ClinVar Miner

Variants from Neuberg Centre For Genomic Medicine, NCGM

Location: India  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
1233 1851 4660 3 1 7733

Gene and significance breakdown #

Total genes and gene combinations: 2453
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ATP7B 19 19 19 0 0 57
BRCA2 20 5 20 0 0 45
COL7A1 11 17 17 0 0 45
CFTR 17 12 12 0 0 41
DMD 17 13 7 0 0 37
RYR1 6 4 27 0 0 37
NF1 21 12 1 0 0 34
ATM 2 10 22 0 0 33
BRCA1 18 4 11 0 0 33
PKHD1 4 7 22 0 0 33
DYSF 6 16 11 0 0 32
LOC102724058, SCN1A 5 6 21 0 0 32
GALNS 11 7 11 0 0 29
SCN2A 2 4 23 0 0 29
CAPN3 7 11 10 0 0 28
SPG11 8 9 12 0 0 28
PKD1 3 7 17 0 0 27
SCN1A 7 7 13 0 0 27
LAMA2 4 11 11 0 0 26
MECP2 14 2 9 0 0 25
CACNA1A 1 0 23 0 0 24
ATM, C11orf65 4 6 14 0 0 23
TSC2 8 8 6 0 0 22
AGL 5 9 7 0 0 21
ANK1 1 11 8 0 0 20
ARSA 9 5 6 0 0 20
MLH1 11 2 8 0 0 20
MSH2 6 5 9 0 0 20
SETX 0 6 14 0 0 20
SPTB 1 7 12 0 0 20
SYNE1 0 6 14 0 0 20
ABCB11 2 7 10 0 0 19
CREBBP 0 6 13 0 0 19
MSH6 1 0 18 0 0 19
NPC1 3 10 6 0 0 19
CLCN1 6 6 6 0 0 18
COL4A5 4 10 4 0 0 18
DEPDC5 3 2 13 0 0 18
F8 3 8 7 0 0 18
TTN 2 3 12 1 0 18
COL6A2 2 6 9 0 0 17
FANCA 4 6 7 0 0 17
KMT2D 2 3 12 0 0 17
NPHS1 3 5 9 0 0 17
PLA2G6 3 7 8 0 0 17
FBN1 4 8 4 0 0 16
KCNQ2 6 3 7 0 0 16
KCNT1 1 4 11 0 0 16
NEB 1 7 8 0 0 16
COL4A3, MFF-DT 2 1 12 0 0 15
GALC 4 9 2 0 0 15
LRBA 1 6 8 0 0 15
NBEA 0 0 15 0 0 15
PTPN11 14 0 1 0 0 15
BTD 6 5 3 0 0 14
GCDH 7 1 6 0 0 14
GNE 5 3 6 0 0 14
GRIN2B 2 0 12 0 0 14
HBB, LOC106099062, LOC107133510 14 0 0 0 0 14
MFN2 4 3 7 0 0 14
MTHFR 2 4 8 0 0 14
NSD1 2 7 5 0 0 14
PANK2 0 6 8 0 0 14
SETD1A 0 0 14 0 0 14
SMPD1 5 6 3 0 0 14
STXBP1 3 3 8 0 0 14
TCF20 0 4 10 0 0 14
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 6 5 5 1 0 14
APC 3 2 8 0 0 13
ATP6V0A4 1 2 10 0 0 13
DYNC1H1 0 2 11 0 0 13
KIF1A 2 0 11 0 0 13
LDLR 6 4 3 0 0 13
PALB2 1 4 8 0 0 13
PLEC 0 2 11 0 0 13
PYGL 2 5 6 0 0 13
SACS 1 4 8 0 0 13
VWF 2 2 9 0 0 13
ABCB4 2 5 5 0 0 12
BRIP1 1 0 11 0 0 12
CDKL5 2 3 7 0 0 12
CEP290 6 2 4 0 0 12
COL1A2 5 4 3 0 0 12
DNAH5 2 2 8 0 0 12
GAA 8 4 0 0 0 12
GLB1 5 3 5 0 0 12
HYDIN 0 3 9 0 0 12
KMT2E 0 1 11 0 0 12
RHOBTB2 1 0 11 0 0 12
RTEL1, RTEL1-TNFRSF6B 1 1 10 0 0 12
SCN5A 0 0 12 0 0 12
SCN8A 0 1 11 0 0 12
SPTBN2 0 1 11 0 0 12
USH2A 2 5 5 0 0 12
VPS13A 2 8 2 0 0 12
ABCA4 7 3 1 0 0 11
ASH1L 0 0 11 0 0 11
CACNA1G 0 0 11 0 0 11
COL17A1 0 8 3 0 0 11
COL6A3 0 1 10 0 0 11
DOCK8 1 4 6 0 0 11
HECW2 0 0 11 0 0 11
HEXA 4 1 6 0 0 11
IDUA 2 6 3 0 0 11
LAMB3 4 5 3 0 0 11
MYBPC3 1 4 6 0 0 11
SH3TC2 4 5 2 0 0 11
SZT2 0 4 7 0 0 11
TGM1 4 4 3 0 0 11
ZEB2 0 1 10 0 0 11
ADGRV1 1 0 9 0 0 10
AGXT 7 3 0 0 0 10
AHDC1 0 1 9 0 0 10
ALMS1 0 7 3 0 0 10
CHD2 0 2 8 0 0 10
CHEK2 0 0 10 0 0 10
FOXP1 0 2 8 0 0 10
HEXB 3 2 5 0 0 10
HSD17B4 0 4 6 0 0 10
JAG1 1 6 3 0 0 10
LZTR1 2 4 4 0 0 10
MAPK8IP3 0 0 10 0 0 10
MED13L 0 0 10 0 0 10
MYO15A 0 3 7 0 0 10
MYO7A 3 3 4 0 0 10
PAH 6 4 0 0 0 10
PCDH19 2 1 7 0 0 10
POLE 0 1 9 0 0 10
SGSH 2 4 4 0 0 10
SPTBN1 0 0 10 0 0 10
TP53 8 1 1 0 0 10
ABCC2 1 5 3 0 0 9
ABCC8 2 2 5 0 0 9
ABCD1 2 5 2 0 0 9
ASPM 0 7 2 0 0 9
ATP1A3 2 3 4 0 0 9
ATP8B1 2 1 6 0 0 9
CACNA1C 0 0 9 0 0 9
CACNA1E 0 0 9 0 0 9
CENPF 0 7 2 0 0 9
CHD7 3 0 6 0 0 9
CIC 0 0 9 0 0 9
COL12A1 0 0 9 0 0 9
DUOX2 3 2 4 0 0 9
EIF2B5 3 1 5 0 0 9
FAH 3 3 3 0 0 9
FOXG1 1 6 2 0 0 9
G6PD 8 0 1 0 0 9
GNPTAB 5 0 4 0 0 9
GRIN2A 0 0 9 0 0 9
GRIN2D 0 0 9 0 0 9
KANSL1 1 2 6 0 0 9
KCNN2 0 0 9 0 0 9
MFSD8 2 5 2 0 0 9
MYO5B 0 1 8 0 0 9
PIEZO2 1 2 6 0 0 9
PMS2 0 2 7 0 0 9
SCN3A 0 1 8 0 0 9
SLC12A3 3 5 1 0 0 9
SPTA1 1 0 8 0 0 9
SYNE2 0 0 9 0 0 9
TNRC6B 0 1 8 0 0 9
TPP1 3 3 3 0 0 9
TRRAP 0 0 9 0 0 9
USP53 1 4 4 0 0 9
ZNF292 0 0 9 0 0 9
ACE 0 5 3 0 0 8
ADA2 3 2 3 0 0 8
ADGRG1 2 3 3 0 0 8
AGRN 0 0 8 0 0 8
AIRE 1 2 5 0 0 8
ANK3 0 0 8 0 0 8
ARFGEF1 0 1 7 0 0 8
CASK 0 1 7 0 0 8
CBS 1 3 4 0 0 8
COL1A1 2 3 3 0 0 8
COL2A1 2 2 4 0 0 8
COL6A1 2 3 3 0 0 8
DNAH11 0 2 6 0 0 8
DYNC2H1 0 4 4 0 0 8
GALT 5 1 2 0 0 8
HIVEP2 0 0 8 0 0 8
HSPG2 0 1 7 0 0 8
IGHMBP2 1 2 5 0 0 8
ITGA2B 2 2 4 0 0 8
KCNB1 1 0 7 0 0 8
KDM5C 0 2 6 0 0 8
KDM6B 0 0 8 0 0 8
LAMB2 0 5 3 0 0 8
LRP2 0 0 8 0 0 8
MAP1B 0 0 8 0 0 8
MBD5 0 1 7 0 0 8
MOCS1 0 1 7 0 0 8
MYH7 0 3 5 0 0 8
NALCN 1 2 5 0 0 8
NEXMIF 1 0 7 0 0 8
OBSL1 2 1 5 0 0 8
OCRL 3 4 1 0 0 8
P3H1 2 5 1 0 0 8
PCCA 1 2 5 0 0 8
PEX6 0 3 5 0 0 8
PKLR 3 3 2 0 0 8
RAD51D, RAD51L3-RFFL 3 0 5 0 0 8
RNF213 0 0 7 1 0 8
SGCA 2 3 3 0 0 8
SON 0 2 6 0 0 8
TJP2 0 5 3 0 0 8
TYR 4 1 4 0 0 8
BPTF 0 0 7 0 0 7
CD36 0 6 1 0 0 7
CLCN7 0 3 4 0 0 7
CLCNKB, LOC106501713 2 4 2 0 0 7
CTNS 3 2 2 0 0 7
CUX1 0 1 6 0 0 7
DYRK1A 3 1 3 0 0 7
ETHE1 2 1 4 0 0 7
F5 0 2 5 0 0 7
FANCA, ZNF276 3 1 3 0 0 7
FBN2 0 0 7 0 0 7
FLNC 1 0 6 0 0 7
FN1 0 0 7 0 0 7
GJB2 5 2 0 0 0 7
HMBS 2 1 4 0 0 7
HNF1B 2 0 5 0 0 7
IL12RB1 2 1 4 0 0 7
ITGB2 0 6 1 0 0 7
KCNQ1 3 0 4 0 0 7
KMT2C 0 1 6 0 0 7
LAMA3 0 6 1 0 0 7
MACF1 0 0 7 0 0 7
MED12 1 1 5 0 0 7
MPV17 2 4 1 0 0 7
NBAS 0 2 5 0 0 7
NEB, RIF1 1 3 3 0 0 7
OCA2 2 3 2 0 0 7
OTC 0 0 7 0 0 7
PAX2 2 3 2 0 0 7
PCNT 0 3 4 0 0 7
PHKG2 2 1 4 0 0 7
PIEZO1 1 1 5 0 0 7
PLCE1 0 3 4 0 0 7
POLR3A 1 1 5 0 0 7
PRF1 3 1 3 0 0 7
RAD54L 0 1 6 0 0 7
RERE 0 0 7 0 0 7
RPE65 2 2 3 0 0 7
SGCB 1 4 2 0 0 7
SIK1 0 0 7 0 0 7
SLC26A4 3 2 2 0 0 7
SLC2A1 0 5 2 0 0 7
SLC37A4 3 2 2 0 0 7
SYNGAP1 1 1 5 0 0 7
TANC2 0 0 7 0 0 7
TCF3 0 0 7 0 0 7
TERT 1 0 6 0 0 7
TH 0 3 4 0 0 7
TSC1 2 4 1 0 0 7
ACADM 4 0 2 0 0 6
ACAT1 3 1 2 0 0 6
ANKRD11 2 0 4 0 0 6
ARX 0 2 4 0 0 6
ATP7A 0 0 6 0 0 6
BAG3 2 0 4 0 0 6
CDH1 0 0 6 0 0 6
CDK13 0 1 5 0 0 6
CFH 1 1 4 0 0 6
COL4A4 0 3 3 0 0 6
CPLANE1 2 2 2 0 0 6
CUL7 0 3 3 0 0 6
DDX3X 1 4 1 0 0 6
ERCC6 4 1 1 0 0 6
EXT1 3 2 1 0 0 6
F11 1 3 2 0 0 6
FANCI 1 2 3 0 0 6
FGFR3 5 0 1 0 0 6
FLNA 0 1 5 0 0 6
FLNB 0 1 5 0 0 6
GABBR2 0 0 6 0 0 6
GBA1, LOC106627981 4 1 1 0 0 6
GJB1 3 0 3 0 0 6
GLDC 0 3 3 0 0 6
GPI 1 3 2 0 0 6
HBB, LOC107133510, LOC110006319 3 2 1 0 0 6
HDAC4 0 0 6 0 0 6
IBA57 0 1 5 0 0 6
INSL6, JAK2 0 0 6 0 0 6
IRF2BPL 0 1 5 0 0 6
ITGB3 4 1 1 0 0 6
KCNMA1 0 0 6 0 0 6
KIF5A 0 1 5 0 0 6
KMT2B 0 0 6 0 0 6
LMNA 4 1 1 0 0 6
LRRK2 0 0 6 0 0 6
MEFV 0 0 6 0 0 6
MEGF8 0 0 6 0 0 6
MLH3 0 1 5 0 0 6
MMACHC 3 1 2 0 0 6
MME 0 2 4 0 0 6
MMUT 1 2 3 0 0 6
MYH9 1 0 5 0 0 6
NIPBL 0 1 5 0 0 6
NPHS2 2 4 0 0 0 6
PACS2 0 0 6 0 0 6
PCCB 2 0 4 0 0 6
PHEX 0 3 3 0 0 6
PHKA2 0 4 2 0 0 6
POC1A 1 2 3 0 0 6
POLR1C 1 1 4 0 0 6
POMGNT1, TSPAN1 0 1 5 0 0 6
RAB27A 2 1 3 0 0 6
SEC23B 0 2 4 0 0 6
SETBP1 0 1 5 0 0 6
SETD5 0 0 6 0 0 6
SGCG 0 2 4 0 0 6
SLC34A1 0 2 4 0 0 6
SLC7A7 3 1 2 0 0 6
SOS1 4 0 2 0 0 6
SPG7 2 2 2 0 0 6
SPTAN1 0 1 5 0 0 6
SURF1 5 0 1 0 0 6
TK2 1 2 3 0 0 6
TRIO 0 0 6 0 0 6
TRIT1 0 4 2 0 0 6
UNC80 0 1 5 0 0 6
USP9X 0 1 5 0 0 6
WAS 3 2 1 0 0 6
WFS1 1 0 5 0 0 6
WT1 3 1 2 0 0 6
ABCA7 0 0 5 0 0 5
ACAN 0 0 5 0 0 5
ALDH5A1 0 3 2 0 0 5
ALG13 1 0 4 0 0 5
ANK2 0 0 5 0 0 5
AP4B1 0 3 2 0 0 5
AR 1 1 3 0 0 5
ASAH1 3 0 2 0 0 5
ATP13A2 0 1 4 0 0 5
ATP1A2 0 0 5 0 0 5
ATP6V1B1 0 3 2 0 0 5
BARD1 0 1 4 0 0 5
BBS2 1 1 3 0 0 5
BCKDHA 3 2 0 0 0 5
BCKDHB 0 2 3 0 0 5
BIVM-ERCC5, ERCC5 1 2 2 0 0 5
BRCA1, LOC126862571 4 1 0 0 0 5
BTK 1 2 2 0 0 5
C19orf12 0 1 4 0 0 5
CAMK2B 0 1 4 0 0 5
CC2D2A 1 0 4 0 0 5
CCDC88C 0 1 4 0 0 5
CCDST, FLG 2 3 0 0 0 5
CCN6 2 3 0 0 0 5
CDH15 0 0 5 0 0 5
CLCN2 0 1 4 0 0 5
CLN6 1 2 2 0 0 5
CNOT3 0 0 5 0 0 5
COL11A1 0 1 4 0 0 5
COL4A1 2 1 2 0 0 5
CPT1A 0 0 5 0 0 5
CSF1R 0 0 5 0 0 5
CUX2 0 0 5 0 0 5
CYP27A1 5 0 0 0 0 5
CYP27B1 1 4 0 0 0 5
DCHS1 0 0 5 0 0 5
DES 2 1 2 0 0 5
DGKE 0 1 4 0 0 5
DNM1 0 0 5 0 0 5
DNMT3A 1 0 4 0 0 5
DOCK7 0 2 3 0 0 5
DSP 1 0 4 0 0 5
EARS2 2 1 2 0 0 5
EHMT1 0 1 4 0 0 5
EIF2S3 0 0 5 0 0 5
EPCAM 0 2 3 0 0 5
ETFDH 3 0 2 0 0 5
FA2H 0 3 2 0 0 5
FGFR2 5 0 0 0 0 5
FIG4 0 1 4 0 0 5
FREM2 0 2 3 0 0 5
GFAP 2 1 2 0 0 5
GH-LCR, SCN4A 1 0 4 0 0 5
GNPTG 1 1 3 0 0 5
HCN1 0 0 5 0 0 5
HERC2 0 0 5 0 0 5
HGD 2 1 2 0 0 5
IDS 2 0 3 0 0 5
IDS, LOC106050102 1 3 1 0 0 5
IDUA, SLC26A1 1 1 3 0 0 5
INF2 1 1 3 0 0 5
ITPR1 1 0 4 0 0 5
IVD 1 2 2 0 0 5
KAT6A 0 0 5 0 0 5
KAT8 0 0 5 0 0 5
LAMA4 0 0 5 0 0 5
LIPA 2 1 2 0 0 5
LMBRD2 0 0 5 0 0 5
LPL 1 3 1 0 0 5
MED13 0 0 5 0 0 5
MORC2 1 0 4 0 0 5
MPL 1 2 2 0 0 5
MVP-DT, PRRT2 3 0 2 0 0 5
MYH14 0 0 5 0 0 5
MYH6 0 0 5 0 0 5
NDUFS1 0 0 5 0 0 5
NDUFV1 0 3 2 0 0 5
NFKB1 0 1 4 0 0 5
NFKB2 1 0 4 0 0 5
NPHP4 0 2 3 0 0 5
NTRK1 1 3 1 0 0 5
OPA1 2 1 2 0 0 5
OTOG 0 1 4 0 0 5
PCLO 0 0 5 0 0 5
PDHA1 1 1 3 0 0 5
PGAP2 0 2 3 0 0 5
PHKB 1 3 1 0 0 5
PIK3R1 0 0 5 0 0 5
PINK1 0 4 1 0 0 5
PKP2 1 2 2 0 0 5
PLEKHG5 0 1 4 0 0 5
PNPLA1 0 4 1 0 0 5
PRSS1, TRB 3 0 2 0 0 5
PTEN 3 0 2 0 0 5
RAD51C 0 0 5 0 0 5
RAF1 2 0 3 0 0 5
SELENON 2 2 1 0 0 5
SETD1B 0 1 4 0 0 5
SLC4A1 1 0 4 0 0 5
SPAST 2 1 2 0 0 5
STAG2 0 1 4 0 0 5
STAT3 1 3 1 0 0 5
TBC1D24 1 0 4 0 0 5
TCIRG1 1 2 2 0 0 5
TET3 0 0 5 0 0 5
TMEM67 1 1 3 0 0 5
TNNI3 2 2 1 0 0 5
TNR 0 1 4 0 0 5
TOR1A 1 3 1 0 0 5
TRAPPC12 0 2 3 0 0 5
TRPC6 0 2 3 0 0 5
UMOD 0 0 5 0 0 5
UNC13D 1 2 2 0 0 5
VPS13B 1 2 2 0 0 5
VPS13C 0 1 4 0 0 5
WASHC5 0 0 5 0 0 5
AARS1 0 0 4 0 0 4
ABCA12 1 2 1 0 0 4
ABCC6 0 3 1 0 0 4
ABCC9, KCNJ8 1 0 3 0 0 4
ABCD1, PLXNB3 3 1 0 0 0 4
ABCG8 1 2 1 0 0 4
ACOX1 0 0 4 0 0 4
ACP5 0 1 3 0 0 4
ADCY5 0 0 4 0 0 4
AGPAT2 1 3 0 0 0 4
AHI1 0 0 4 0 0 4
AKR1D1 0 3 1 0 0 4
ALDH7A1 1 2 1 0 0 4
ANLN 0 0 4 0 0 4
AP5Z1 0 1 3 0 0 4
APC2 0 0 4 0 0 4
ARFGEF1-DT, CPA6 0 0 4 0 0 4
ASPA, SPATA22 3 1 0 0 0 4
ASS1 2 1 1 0 0 4
ASXL3 0 2 2 0 0 4
BLM 2 1 1 0 0 4
BOLA3 1 0 3 0 0 4
BRAT1 0 1 3 0 0 4
CACNA1D 1 0 3 0 0 4
CACNA1I 0 0 4 0 0 4
CARD11 0 0 4 0 0 4
CASR 0 2 2 0 0 4
CDC42BPB 0 0 4 0 0 4
CHAMP1 0 0 4 0 0 4
CHD5 0 0 4 0 0 4
CHD8 0 0 4 0 0 4
CIT 0 1 3 0 0 4
CLCN4 0 0 4 0 0 4
CLCN5 0 4 0 0 0 4
CLPB 0 0 4 0 0 4
CNGA3 2 2 0 0 0 4
CNOT1 0 0 4 0 0 4
CNTNAP1 0 1 3 0 0 4
COL11A2 0 1 3 0 0 4
COMP 1 2 1 0 0 4
CTC1 0 2 2 0 0 4
CYB5R3 1 1 2 0 0 4
CYP1B1 1 1 2 0 0 4
CYP21A2, LOC106780800 2 1 1 0 0 4
DCX 1 0 3 0 0 4
DEAF1 0 0 4 0 0 4
DHX30 0 0 4 0 0 4
DLL1 1 1 2 0 0 4
DNMT1 0 0 4 0 0 4
DOK7 1 2 1 0 0 4
DTNA 0 0 4 0 0 4
EDAR, RANBP2 2 1 1 0 0 4
EPG5 0 1 3 0 0 4
EVC2 2 2 0 0 0 4
F7 0 1 3 0 0 4
FANCG 0 4 0 0 0 4
FANCL 3 1 0 0 0 4
FBXO11 0 0 4 0 0 4
FKTN 1 1 2 0 0 4
FUS 2 0 2 0 0 4
GATA3 0 1 3 0 0 4
GBE1 0 0 4 0 0 4
GCH1 0 0 4 0 0 4
GDAP1 1 2 1 0 0 4
GJC2 0 2 2 0 0 4
GLI3 0 1 3 0 0 4
GLRA1 1 0 3 0 0 4
GLUD1 2 0 2 0 0 4
GRHPR 2 0 2 0 0 4
GRIA2 0 1 3 0 0 4
GRIN1 1 0 3 0 0 4
GYS2 2 1 1 0 0 4
HCN4 0 0 4 0 0 4
HFE 2 1 1 0 0 4
HPS1 0 0 4 0 0 4
HSALR1, PIEZO1 0 1 3 0 0 4
KCNJ1 2 0 2 0 0 4
KCNJ10 0 1 3 0 0 4
KCNQ5 0 0 4 0 0 4
KDM6A 0 0 4 0 0 4
KIAA0586 0 2 2 0 0 4
KIF5C 1 0 3 0 0 4
KLHL40 0 3 1 0 0 4
KMT2A 0 2 2 0 0 4
KRT14 1 3 1 0 0 4
KRT6A 0 2 2 0 0 4
L1CAM 2 0 2 0 0 4
L2HGDH 1 1 2 0 0 4
LOC129992585, SGCB 2 2 0 0 0 4
LPAR6, RB1 2 2 0 0 0 4
LRSAM1 1 1 2 0 0 4
LYST 0 2 2 0 0 4
MAN2B1 0 1 3 0 0 4
MAPT 0 0 4 0 0 4
MILR1, POLG2 0 1 3 0 0 4
MIPEP 0 1 3 0 0 4
MPDZ 0 2 2 0 0 4
MPZ 0 0 4 0 0 4
MRE11 1 0 3 0 0 4
MSTO1 1 1 2 0 0 4
MYT1L 0 1 3 0 0 4
NAGLU 1 1 2 0 0 4
NEK1 0 2 2 0 0 4
NLRP12 0 0 4 0 0 4
NPHP3, NPHP3-ACAD11 1 1 2 0 0 4
NUP93 0 0 4 0 0 4
OPHN1 0 1 3 0 0 4
PEPD 1 3 0 0 0 4
PHEX, PTCHD1 0 2 2 0 0 4
PIDD1 0 1 3 0 0 4
PIGG 1 1 2 0 0 4
PIK3CD 0 1 3 0 0 4
PLCB1 0 0 4 0 0 4
PLCG2 0 0 4 0 0 4
PLOD1 0 1 3 0 0 4
PMP22 1 1 2 0 0 4
PMPCB 0 1 3 0 0 4
PNKP 0 2 2 0 0 4
PNPO 3 0 1 0 0 4
POGZ 1 0 3 0 0 4
POLG 1 1 2 0 0 4
POLRMT 0 2 2 0 0 4
PSAP 0 2 2 0 0 4
RARS2 0 1 3 0 0 4
RET 1 1 2 0 0 4
RP1 0 1 3 0 0 4
RPS19 1 1 2 0 0 4
SALL1 0 0 4 0 0 4
SAMD9L 0 0 4 0 0 4
SBDS 2 1 1 0 0 4
SCUBE3 0 1 3 0 0 4
SETD2 0 0 4 0 0 4
SLC1A2 0 0 4 0 0 4
SLC22A5 2 1 1 0 0 4
SLC34A3 0 1 3 0 0 4
SMC1A 0 0 4 0 0 4
SNHG14, UBE3A 1 2 1 0 0 4
STAR 2 1 1 0 0 4
STAT1 2 1 1 0 0 4
STK11 0 1 3 0 0 4
STXBP2 1 2 1 0 0 4
TAF1 0 0 4 0 0 4
TANGO2 1 2 1 0 0 4
TBCK 1 2 1 0 0 4
TELO2 0 2 2 0 0 4
TENM4 0 0 4 0 0 4
TOGARAM1 0 2 2 0 0 4
TOP2B 1 0 3 0 0 4
TRIP12 0 0 4 0 0 4
TRPM6 0 1 3 0 0 4
TRPV4 2 0 2 0 0 4
UQCRC1 0 0 4 0 0 4
VPS13D 0 0 4 0 0 4
WDR73 0 1 3 0 0 4
YARS1 0 0 4 0 0 4
ZC4H2 0 0 4 0 0 4
ZFYVE26 1 2 1 0 0 4
ZMYM2 0 1 3 0 0 4
ZNF142 0 1 3 0 0 4
ZNF462 0 1 3 0 0 4
AAAS 2 0 1 0 0 3
ABCD4 0 1 2 0 0 3
ACOX2 0 1 2 0 0 3
ADA 1 1 1 0 0 3
ADAMTS10 0 0 3 0 0 3
ADAMTS13 0 1 2 0 0 3
ADAR 1 0 2 0 0 3
ADCY10 0 0 3 0 0 3
ADNP 0 1 2 0 0 3
ADSL 2 0 1 0 0 3
AFF3 0 0 3 0 0 3
AGTPBP1 0 0 3 0 0 3
ALDH3A2 1 2 0 0 0 3
ALG3 0 2 1 0 0 3
ALPK3 0 3 0 0 0 3
ALS2 0 1 2 0 0 3
ANO5 0 3 0 0 0 3
ANTXR2 1 2 0 0 0 3
APTX 2 1 0 0 0 3
ARHGAP31 0 0 3 0 0 3
ARID1B 0 2 1 0 0 3
ARSB, LOC129994126 1 1 1 0 0 3
ASIC4, SPEG 0 0 3 0 0 3
ATP1A1 0 0 3 0 0 3
ATP6AP1 0 0 3 0 0 3
ATP6V1A 0 0 3 0 0 3
ATP8A2 0 2 1 0 0 3
B3GALNT2 1 1 1 0 0 3
BBS10 1 1 1 0 0 3
BCHE 2 1 0 0 0 3
BCORL1 0 0 3 0 0 3
BICRA 0 0 3 0 0 3
BRAF 2 1 0 0 0 3
BSCL2, HNRNPUL2-BSCL2 0 2 1 0 0 3
C2CD3 0 1 2 0 0 3
C6 1 2 0 0 0 3
CAMTA1 0 0 3 0 0 3
CARMIL2 1 1 1 0 0 3
CASP10 0 0 3 0 0 3
CBL 0 0 3 0 0 3
CD19 0 0 3 0 0 3
CD40LG 1 0 2 0 0 3
CDAN1 1 1 1 0 0 3
CDH23 0 0 3 0 0 3
CEP85L 0 0 3 0 0 3
CFHR5 0 0 3 0 0 3
CFI 0 1 2 0 0 3
CFTR, LOC111674472 2 1 0 0 0 3
CFTR, LOC111674475 1 1 1 0 0 3
CHAT 0 0 3 0 0 3
CHD1 0 0 3 0 0 3
CHD3 0 0 3 0 0 3
CHKB, CHKB-CPT1B 0 1 2 0 0 3
CHRNA1 0 0 3 0 0 3
CHRNB1 0 1 2 0 0 3
CHST3 0 1 2 0 0 3
CHST6 0 1 2 0 0 3
CLDN19 1 1 1 0 0 3
CLN5 0 1 2 0 0 3
CNTNAP2 0 1 2 0 0 3
COASY 1 1 1 0 0 3
COL18A1, SLC19A1 0 1 2 0 0 3
COL3A1 2 0 1 0 0 3
COL5A1 0 1 2 0 0 3
COPA 0 0 3 0 0 3
COQ8A 1 1 1 0 0 3
CR2 0 0 3 0 0 3
CRB1 1 1 1 0 0 3
CTSK 2 0 1 0 0 3
CYP17A1 0 1 2 0 0 3
CYP2U1 0 1 2 0 0 3
CYP4F22 0 0 3 0 0 3
CYP7B1 1 0 2 0 0 3
DCTN1 0 0 3 0 0 3
DDC 1 2 0 0 0 3
DEGS1 1 1 1 0 0 3
DNAJC21 0 3 0 0 0 3
DNM1L 1 0 2 0 0 3
DNM2 1 0 2 0 0 3
DRC1 0 1 2 0 0 3
DYM 0 3 0 0 0 3
EBF3 0 1 2 0 0 3
EBP 0 0 3 0 0 3
ECHS1 1 2 0 0 0 3
EIF2B3 0 2 1 0 0 3
EIF4G1 0 0 3 0 0 3
EMC1 0 1 2 0 0 3
EP300 0 1 2 0 0 3
EPB41 0 1 2 0 0 3
EPM2A 0 0 3 0 0 3
EYA1 0 1 2 0 0 3
FANCM 0 0 3 0 0 3
FERMT1 1 1 1 0 0 3
FGF12 0 1 2 0 0 3
FKBP10 0 3 0 0 0 3
FOLR1 0 0 2 0 1 3
FOXC1 0 1 2 0 0 3
FOXP2 0 1 2 0 0 3
GABRA5 0 0 3 0 0 3
GALNS, LOC126862447 0 2 1 0 0 3
GALNS, LOC130059762, TRAPPC2L 1 1 1 0 0 3
GATAD2B 0 1 2 0 0 3
GBA2 0 0 3 0 0 3
GEMIN5 0 1 2 0 0 3
GHR 1 0 2 0 0 3
GNAS 0 2 1 0 0 3
GPD1 0 1 2 0 0 3
GPIHBP1 1 1 1 0 0 3
GPT2 0 0 3 0 0 3
GREB1L 0 0 3 0 0 3
GRIA4 0 0 3 0 0 3
GRIA4, LOC126861324 0 0 3 0 0 3
GUCY2D 0 2 1 0 0 3
HACE1 1 0 2 0 0 3
HMGCS2 0 0 3 0 0 3
HMMR 0 0 3 0 0 3
HOGA1 1 1 1 0 0 3
HSD17B10 0 0 3 0 0 3
HSD3B2 0 1 2 0 0 3
HSD3B7 0 2 1 0 0 3
HSPD1 0 0 3 0 0 3
IFNGR1 1 1 1 0 0 3
IKBKB 0 0 3 0 0 3
IL10RA 0 1 2 0 0 3
INPP5K 1 0 2 0 0 3
INTS1 0 0 3 0 0 3
IQCB1 0 0 3 0 0 3
IQSEC2 1 1 1 0 0 3
JAK3 0 1 2 0 0 3
KAT6B 0 2 1 0 0 3
KBTBD13 0 0 3 0 0 3
KCNA2 1 0 2 0 0 3
KCNA5 0 0 3 0 0 3
KCNK4, KCNK4-CATSPERZ 0 0 3 0 0 3
KCNT2 1 0 2 0 0 3
KDM3B 0 0 3 0 0 3
KIF22 1 0 2 0 0 3
KRT1 0 2 1 0 0 3
LAMA5 0 0 3 0 0 3
LAMB1 0 1 2 0 0 3
LAMC2 0 2 1 0 0 3
LARGE1 0 1 2 0 0 3
LMNB1 0 0 3 0 0 3
LOC106029312, NCF1 1 1 1 0 0 3
LOC126861242, NDUFV1 2 1 0 0 0 3
LOC126861898, MYH7 0 1 2 0 0 3
LRP5 0 1 2 0 0 3
LTBP2 0 1 2 0 0 3
MAGEL2 1 0 2 0 0 3
MARS1 0 0 3 0 0 3
MAST3 0 0 3 0 0 3
MMP2 1 0 2 0 0 3
MOCOS 0 3 0 0 0 3
MUTYH 2 0 1 0 0 3
MYH2, MYHAS 0 0 3 0 0 3
MYLK2 0 0 3 0 0 3
MYO3A 0 3 0 0 0 3
MYOC 1 0 2 0 0 3
NACC1 0 0 3 0 0 3
NARS1 0 0 3 0 0 3
NAXD 1 1 1 0 0 3
NDUFAF6 1 2 0 0 0 3
NEK8 0 0 3 0 0 3
NFE2L2 0 0 3 0 0 3
NFIX 1 2 0 0 0 3
NLRC4 0 0 3 0 0 3
NOD2 1 0 2 0 0 3
NOTCH2 0 0 3 0 0 3
NOTCH3 2 0 1 0 0 3
NPC2 0 3 0 0 0 3
NPRL2 0 0 3 0 0 3
NR0B1 0 1 2 0 0 3
NRIP1 0 0 3 0 0 3
NSUN2 0 2 1 0 0 3
NUS1 1 0 2 0 0 3
OCLN 0 1 2 0 0 3
OTOF 0 2 1 0 0 3
OTUD5 0 0 3 0 0 3
OTUD6B 1 0 2 0 0 3
OXCT1 0 1 2 0 0 3
PARN 0 0 3 0 0 3
PEX19 0 0 3 0 0 3
PGAP1 1 1 1 0 0 3
PGM3 0 1 2 0 0 3
PHACTR1 0 0 3 0 0 3
PIGT 0 2 1 0 0 3
PIKFYVE 0 1 2 0 0 3
PKD2 2 0 1 0 0 3
PLP1, RAB9B 0 0 3 0 0 3
PNPT1 0 0 3 0 0 3
POLD1 0 0 3 0 0 3
POLR2A 0 0 3 0 0 3
POLR2F, SOX10 1 0 2 0 0 3
POLR3B 0 1 2 0 0 3
POR 0 0 3 0 0 3
PPP2R5D 0 0 3 0 0 3
PROC 0 0 3 0 0 3
PYCR2 0 2 1 0 0 3
RAB3GAP1 0 3 0 0 0 3
RAB3GAP2 0 0 3 0 0 3
RBL2 0 2 1 0 0 3
RECQL4 0 1 2 0 0 3
RGR 0 0 3 0 0 3
RNASEH2B 1 1 1 0 0 3
ROBO3 1 2 0 0 0 3
RORA 0 0 3 0 0 3
RYR2 0 0 3 0 0 3
SATB1 0 0 3 0 0 3
SCN1B 1 0 2 0 0 3
SCN4A 1 0 2 0 0 3
SI 0 2 1 0 0 3
SKIC3 0 3 0 0 0 3
SLC16A2 1 1 1 0 0 3
SLC17A5 1 1 1 0 0 3
SLC25A12 0 0 3 0 0 3
SLC25A22 0 0 3 0 0 3
SLC26A3 0 2 1 0 0 3
SLC2A2 1 1 1 0 0 3
SLC38A8 0 3 0 0 0 3
SLC3A1 0 1 2 0 0 3
SLC4A11 1 1 1 0 0 3
SLC52A2 0 1 2 0 0 3
SLC6A1 0 0 3 0 0 3
SLC7A9 1 0 2 0 0 3
SLCO2A1 0 1 2 0 0 3
SMARCA2 0 0 3 0 0 3
SNX14 0 2 1 0 0 3
SOX6 0 1 2 0 0 3
SPEN 0 0 3 0 0 3
SPINK5 2 0 1 0 0 3
SPTBN4 0 1 2 0 0 3
SRCAP 0 0 3 0 0 3
SRD5A2 0 0 3 0 0 3
STAT5B 0 0 3 0 0 3
STUB1 0 0 3 0 0 3
SUMF1 1 0 2 0 0 3
SUOX 0 0 3 0 0 3
TBCD 1 1 1 0 0 3
TBX6 0 0 3 0 0 3
TBXAS1 1 0 2 0 0 3
TCAP 1 1 1 0 0 3
TGFB2 0 0 3 0 0 3
TGM6 0 0 3 0 0 3
TLR3 0 0 3 0 0 3
TMEM106B 0 0 3 0 0 3
TMEM43 1 0 2 0 0 3
TNC 0 0 3 0 0 3
TNNT2 2 0 1 0 0 3
TONSL 0 1 2 0 0 3
TPM2 1 0 2 0 0 3
TPM3 0 0 3 0 0 3
TRAF7 0 0 3 0 0 3
TRAPPC9 0 0 3 0 0 3
TRPM4 0 0 3 0 0 3
TRPS1 0 1 2 0 0 3
TTC19 0 0 3 0 0 3
TTC8 1 2 0 0 0 3
TWNK 0 3 0 0 0 3
VLDLR 1 0 2 0 0 3
WDR35 0 0 3 0 0 3
WDR62 0 3 0 0 0 3
XDH 1 2 0 0 0 3
XIAP 0 2 1 0 0 3
ZNF423 0 0 3 0 0 3
AARS2 0 1 1 0 0 2
ABCA12, SNHG31 1 0 1 0 0 2
ABCA2 0 0 2 0 0 2
ABCA3 0 2 0 0 0 2
ABCB11, LOC126806400 1 0 1 0 0 2
ABCG5, DYNC2LI1 1 1 0 0 0 2
ABHD14A-ACY1, ACY1 0 0 2 0 0 2
ACADS 1 0 1 0 0 2
ACD 0 1 1 0 0 2
ACO2 1 0 1 0 0 2
ACSM3, THUMPD1 0 0 2 0 0 2
ACTA1 0 0 2 0 0 2
ACTL6B 0 1 1 0 0 2
ADAMTSL4 0 1 1 0 0 2
ADCY10, DCAF6 0 0 2 0 0 2
ADSS1 1 0 1 0 0 2
AFF4 0 0 2 0 0 2
AFG3L2 0 1 1 0 0 2
AIMP1 0 1 1 0 0 2
ALAS2, LOC108663984 0 1 1 0 0 2
ALDOB 1 0 1 0 0 2
ALG1 0 1 1 0 0 2
ALKBH8 0 0 2 0 0 2
ALPL 2 0 0 0 0 2
AMER1 0 0 2 0 0 2
AMPD1 0 0 2 0 0 2
ANK1, LOC126860369 0 1 1 0 0 2
ANKRD26 0 0 2 0 0 2
ANO3 0 0 2 0 0 2
ANTXR1 0 2 0 0 0 2
AOPEP, FANCC 2 0 0 0 0 2
AP1G1 0 0 2 0 0 2
AP1S2 1 1 0 0 0 2
AP4B1, PTPN22 0 0 2 0 0 2
APOB 0 0 2 0 0 2
APOC2, APOC4-APOC2 0 2 0 0 0 2
ARG1, MED23 0 0 2 0 0 2
ARID1A 0 0 2 0 0 2
ARID2 0 0 2 0 0 2
ARPC1B 1 0 1 0 0 2
ARSB 1 0 1 0 0 2
ASCC1 1 1 0 0 0 2
ASL 1 1 0 0 0 2
ASNS, CZ1P-ASNS 0 2 0 0 0 2
ATP11C 0 0 2 0 0 2
ATP6V0A1 0 0 2 0 0 2
ATP6V1B2 0 0 2 0 0 2
ATR 0 0 2 0 0 2
ATRIP, ATRIP-TREX1, TREX1 1 0 1 0 0 2
ATRX 0 0 2 0 0 2
AUTS2 0 1 1 0 0 2
AXDND1, NPHS2 2 0 0 0 0 2
BBS12 0 1 1 0 0 2
BBS9 1 1 0 0 0 2
BCL11A 0 0 2 0 0 2
BCL11B 0 0 2 0 0 2
BICD2 0 0 2 0 0 2
BSND 1 0 1 0 0 2
BUB1 0 1 1 0 0 2
C12orf57 2 0 0 0 0 2
C1S 0 0 2 0 0 2
C3 0 0 2 0 0 2
C5 0 0 2 0 0 2
CA5A 1 0 1 0 0 2
CABP2 1 0 1 0 0 2
CACNA1A, LOC126862865 0 0 2 0 0 2
CACNA1H 0 0 2 0 0 2
CACNA1S 0 1 1 0 0 2
CACNA2D2 0 2 0 0 0 2
CAMK2A 0 0 2 0 0 2
CAMK2G 0 0 2 0 0 2
CAPN1 0 2 0 0 0 2
CASD1, SGCE 0 0 2 0 0 2
CASQ2 1 0 1 0 0 2
CATIP, PNKD 0 0 2 0 0 2
CCBE1 0 0 2 0 0 2
CCDC115 0 0 2 0 0 2
CCDC39 0 1 1 0 0 2
CCDC40 1 1 0 0 0 2
CCNF 0 0 2 0 0 2
CCNO, LOC129993895 2 0 0 0 0 2
CDH11 0 0 2 0 0 2
CDK5RAP2 0 2 0 0 0 2
CELA2A 1 0 1 0 0 2
CENPE 0 0 2 0 0 2
CFAP43 0 1 1 0 0 2
CFAP96, UFSP2 1 0 1 0 0 2
CFD 0 0 2 0 0 2
CHRNB2 0 0 2 0 0 2
CHRNG 1 1 0 0 0 2
CLDN16 0 0 2 0 0 2
CLN3 0 1 1 0 0 2
CLN5, LOC130009913 0 2 0 0 0 2
CLP1 1 0 1 0 0 2
CNKSR2 0 0 2 0 0 2
CNNM2 0 0 2 0 0 2
CNP 0 0 2 0 0 2
COCH 0 1 1 0 0 2
COL10A1, NT5DC1 0 1 1 0 0 2
COL13A1 0 1 1 0 0 2
COL1A1, LOC126862586 1 1 0 0 0 2
COL27A1 0 1 1 0 0 2
COL4A2 0 0 2 0 0 2
COL9A1 0 0 2 0 0 2
COLEC11 0 0 2 0 0 2
COLQ 0 1 1 0 0 2
COQ4 0 1 1 0 0 2
COQ7 0 0 2 0 0 2
CP 0 1 1 0 0 2
CPAP, RNF17 1 1 0 0 0 2
CPLX1 0 0 2 0 0 2
CRAT 0 0 2 0 0 2
CRTAP 0 2 0 0 0 2
CSNK2A1 0 1 1 0 0 2
CSNK2B 0 1 1 0 0 2
CSPP1 0 1 1 0 0 2
CTLA4 0 1 1 0 0 2
CTNNA3 0 0 2 0 0 2
CTRC 1 0 1 0 0 2
CUL4B, LOC113845788 0 0 2 0 0 2
CYBA 1 1 0 0 0 2
CYP11B1, LOC106799833 1 1 0 0 0 2
CYP21A2, LOC106780800, TNXB 2 0 0 0 0 2
DARS2 0 1 1 0 0 2
DCDC2 1 1 0 0 0 2
DCLRE1C 0 1 1 0 0 2
DDX11 0 0 2 0 0 2
DEAF1, LOC126861109 0 1 1 0 0 2
DHH 0 0 2 0 0 2
DHTKD1 0 0 2 0 0 2
DHX16 0 0 2 0 0 2
DKC1 0 0 2 0 0 2
DLAT 0 1 1 0 0 2
DNAH1 0 0 2 0 0 2
DNAH9 0 0 2 0 0 2
DNAH9, LOC101928350 0 1 1 0 0 2
DNM2, LOC130063529 0 0 2 0 0 2
DONSON 0 1 1 0 0 2
DRD4 0 0 2 0 0 2
DSG1, DSG4 0 1 1 0 0 2
DST 0 1 1 0 0 2
DZIP1L 0 0 2 0 0 2
ECEL1 0 1 1 0 0 2
ECM1 1 1 0 0 0 2
EEF2 0 0 2 0 0 2
EFTUD2 1 0 1 0 0 2
EIF2AK3 0 1 1 0 0 2
EIF2B1, LOC126861664 0 1 1 0 0 2
ELANE 0 1 1 0 0 2
ELN 0 1 1 0 0 2
EMD 1 1 0 0 0 2
ENG 1 0 1 0 0 2
ENG, LOC102723566 0 2 0 0 0 2
ERCC3 0 0 2 0 0 2
ERCC4 1 0 1 0 0 2
ESPN 0 1 1 0 0 2
EXOC2 0 0 2 0 0 2
EXOSC3 1 1 0 0 0 2
EYA4 0 1 1 0 0 2
EYS 0 1 1 0 0 2
F9 2 0 0 0 0 2
FA2H, LOC130059394 1 0 1 0 0 2
FBN1, LOC126862124 0 0 2 0 0 2
FBP1 1 1 0 0 0 2
FBXL4 0 0 2 0 0 2
FBXO7 1 0 1 0 0 2
FBXW11 0 0 2 0 0 2
FBXW7 0 0 2 0 0 2
FCSK 0 0 2 0 0 2
FGF13 0 0 2 0 0 2
FGFR1 1 0 1 0 0 2
FGG 0 1 1 0 0 2
FLT4 0 2 0 0 0 2
FOCAD 0 1 1 0 0 2
FOXE3, LINC01389 0 0 2 0 0 2
FRAS1 0 0 2 0 0 2
FUCA1 1 1 0 0 0 2
GABRB1 0 0 2 0 0 2
GABRB2 0 0 2 0 0 2
GABRD 0 0 2 0 0 2
GALK1, ITGB4 0 0 2 0 0 2
GAMT, LOC130062945 0 2 0 0 0 2
GAREM2, HADHA 0 0 2 0 0 2
GATM 0 0 2 0 0 2
GFM1 0 1 1 0 0 2
GFPT1 0 1 1 0 0 2
GGPS1 0 0 2 0 0 2
GHRHR 1 1 0 0 0 2
GIPC3 0 1 1 0 0 2
GJB3 0 0 2 0 0 2
GLA, RPL36A-HNRNPH2 1 0 1 0 0 2
GLB1, LOC129936434, TMPPE 1 1 0 0 0 2
GLI2 0 0 2 0 0 2
GLUD2 0 0 2 0 0 2
GMPPB 1 0 1 0 0 2
GNAO1 0 0 2 0 0 2
GNB1 0 0 2 0 0 2
GP1BA 0 2 0 0 0 2
GPC3 0 0 2 0 0 2
GRHL2 0 0 2 0 0 2
GRIA3 0 0 2 0 0 2
GRIK2 0 0 2 0 0 2
GRK1 0 2 0 0 0 2
GTPBP3 0 2 0 0 0 2
GUCY2C 0 0 2 0 0 2
GUSB 0 1 1 0 0 2
HAX1 0 1 1 0 0 2
HBA-LCR, NPRL3 0 1 1 0 0 2
HBA2, LOC106804612 1 1 0 0 0 2
HCN2 0 0 2 0 0 2
HEPACAM 1 0 1 0 0 2
HGSNAT 1 0 1 0 0 2
HIBCH 0 1 1 0 0 2
HK1 0 1 1 0 0 2
HLCS 0 1 1 0 0 2
HMGCL 1 1 0 0 0 2
HNF1A 1 1 0 0 0 2
HNRNPA2B1 0 0 2 0 0 2
HNRNPH2, RPL36A-HNRNPH2 2 0 0 0 0 2
HNRNPU 0 1 1 0 0 2
HPRT1 0 0 2 0 0 2
HRAS, LRRC56 1 1 0 0 0 2
HSD17B3, SLC35D2-HSD17B3 0 2 0 0 0 2
HUWE1 0 0 2 0 0 2
IFIH1 0 0 2 0 0 2
IFT122 0 0 2 0 0 2
IFT80, TRIM59-IFT80 0 0 2 0 0 2
IGF1R 0 0 2 0 0 2
IL2RG 2 0 0 0 0 2
IL6R 0 0 2 0 0 2
IL6ST 0 0 2 0 0 2
IL7R 0 1 1 0 0 2
INPP5E 0 0 2 0 0 2
INPPL1 0 0 2 0 0 2
IRAK4 0 1 1 0 0 2
IRF2BP2 0 0 2 0 0 2
ISCA2 0 0 2 0 0 2
ITGA8 0 1 1 0 0 2
ITK 0 0 2 0 0 2
JAM3 0 1 1 0 0 2
KATNIP 0 2 0 0 0 2
KCNC1 1 0 1 0 0 2
KCNC2 0 0 2 0 0 2
KCNC3 1 0 1 0 0 2
KCND3 0 0 2 0 0 2
KCNH1 1 0 1 0 0 2
KCNJ11 2 0 0 0 0 2
KCNN2, LOC101927078 0 0 2 0 0 2
KCNQ3 0 0 2 0 0 2
KCNQ4 0 0 2 0 0 2
KCTD7 0 1 1 0 0 2
KDM4B 0 0 2 0 0 2
KDM4B, LOC130063244 0 0 2 0 0 2
KIDINS220 0 1 1 0 0 2
KIF11 0 0 2 0 0 2
KIF14 0 1 1 0 0 2
KIF20A 0 1 1 0 0 2
KIF2A 0 0 2 0 0 2
KISS1R 0 0 2 0 0 2
KLF1, LOC117125591 1 1 0 0 0 2
KLF9-DT, TRPM3 0 0 2 0 0 2
KLHL7 1 1 0 0 0 2
KNL1 0 0 2 0 0 2
LAGE3 0 0 2 0 0 2
LAMA1 0 1 1 0 0 2
LAMC3 0 2 0 0 0 2
LCA5 0 1 1 0 0 2
LDB3 0 0 2 0 0 2
LGI1 0 0 2 0 0 2
LIPT1, MITD1 0 1 1 0 0 2
LNPK 0 1 1 0 0 2
LOC101928008, SBF2 0 1 1 0 0 2
LOC107303340, VHL 2 0 0 0 0 2
LOC107985033, SLFN14 0 0 2 0 0 2
LOC108281177, SOX2, SOX2-OT 0 0 2 0 0 2
LOC113788277, PLPBP 0 0 2 0 0 2
LOC123956210, SLC26A4 0 1 1 0 0 2
LOC126859651, VARS1 0 1 1 0 0 2
LOC126859690, PKHD1 1 0 1 0 0 2
LOC126860802, ZMYND11 0 1 1 0 0 2
LOC126862264, MEFV 1 0 1 0 0 2
LOC126863256, WDR45 0 1 1 0 0 2
LOC129934069, SPR 0 1 1 0 0 2
LOC129994526, SLC12A2 0 0 2 0 0 2
LOC130056973, SPG11 1 0 1 0 0 2
LOXHD1 1 1 0 0 0 2
LPIN2 0 0 2 0 0 2
LRPPRC 0 0 2 0 0 2
LTBP4 0 0 2 0 0 2
MADD 0 0 2 0 0 2
MANBA 0 0 2 0 0 2
MASP2 0 0 2 0 0 2
MAST1 0 0 2 0 0 2
MATN3 1 1 0 0 0 2
MC1R 0 1 1 0 0 2
MC2R 0 2 0 0 0 2
MC4R 0 0 2 0 0 2
MCCC2 0 2 0 0 0 2
MECOM 0 0 2 0 0 2
MED12L 0 0 2 0 0 2
MEF2C 0 0 2 0 0 2
MEGF10 0 0 2 0 0 2
MEN1 1 0 1 0 0 2
MET 0 0 2 0 0 2
MICU1 1 0 1 0 0 2
MKKS 1 1 0 0 0 2
MMADHC 1 0 1 0 0 2
MOCS2 1 1 0 0 0 2
MRAS 1 0 1 0 0 2
MRPS22 0 0 2 0 0 2
MTHFD1 0 0 2 0 0 2
MTMR2 0 1 1 0 0 2
MTTP 0 2 0 0 0 2
MVK 0 0 2 0 0 2
MYBPC1 0 0 2 0 0 2
MYL3 0 0 2 0 0 2
MYO18B 0 2 0 0 0 2
MYO9A 0 0 2 0 0 2
MYOT, PKD2L2-DT 0 0 2 0 0 2
MYPN 0 0 2 0 0 2
NAA15 0 1 1 0 0 2
NARS2 0 0 2 0 0 2
NCF4 0 2 0 0 0 2
NCKAP1L 0 1 1 0 0 2
NDUFV2 1 0 1 0 0 2
NEFL 0 0 2 0 0 2
NEK10 0 0 2 0 0 2
NEUROD2 1 0 1 0 0 2
NHLRC1 0 1 1 0 0 2
NIPAL4 2 0 0 0 0 2
NLRP3 0 0 2 0 0 2
NMNAT1 0 2 0 0 0 2
NPR2 0 0 2 0 0 2
NR2F1 0 0 2 0 0 2
NTHL1 0 0 2 0 0 2
NTNG2 0 0 2 0 0 2
NUBPL 0 1 2 0 0 2
ODAD3 0 2 0 0 0 2
OFD1 0 0 2 0 0 2
OPA3 0 0 2 0 0 2
OTOA 0 1 1 0 0 2
OTULIN 0 0 2 0 0 2
P4HTM 0 1 1 0 0 2
PAK3 0 0 2 0 0 2
PALLD 0 0 2 0 0 2
PARK7 0 0 2 0 0 2
PAX3 1 0 1 0 0 2
PC 0 1 1 0 0 2
PDE10A 0 0 2 0 0 2
PDX1 0 0 2 0 0 2
PEX11B 0 2 0 0 0 2
PEX13 0 0 2 0 0 2
PEX16 0 0 2 0 0 2
PEX26 0 1 1 0 0 2
PEX3 0 1 1 0 0 2
PHF21A 0 0 2 0 0 2
PHIP 0 1 1 0 0 2
PHKA1 0 0 2 0 0 2
PI4KA 0 0 2 0 0 2
PIBF1 0 0 2 0 0 2
PIGA 0 0 2 0 0 2
PIGO 0 1 1 0 0 2
PIK3R2 1 0 1 0 0 2
PKD1L1 0 2 0 0 0 2
PLEKHG2 0 1 1 0 0 2
PLOD2 0 1 1 0 0 2
PMM2 1 0 1 0 0 2
POLA1 0 0 2 0 0 2
POLG, POLGARF 0 0 2 0 0 2
POMT1 0 0 2 0 0 2
POMT2 0 1 1 0 0 2
PORCN 0 1 1 0 0 2
POU3F3 0 0 2 0 0 2
PPIL1 0 0 2 0 0 2
PPP3CA 0 0 2 0 0 2
PPT1 0 2 0 0 0 2
PQBP1 0 0 2 0 0 2
PRDM13 0 0 2 0 0 2
PRKAG2 0 0 2 0 0 2
PRKN 0 0 2 0 0 2
PRKRA 0 0 2 0 0 2
PRR12 0 0 2 0 0 2
PRUNE1 1 0 1 0 0 2
PSEN1 0 1 1 0 0 2
PUF60 0 1 1 0 0 2
PUS7 0 1 1 0 0 2
PYCR1 1 1 0 0 0 2
PYGM 1 1 0 0 0 2
QARS1 1 0 1 0 0 2
RAG1 0 0 2 0 0 2
RALGAPA1 0 0 2 0 0 2
RANBP2 0 1 1 0 0 2
RB1 1 1 0 0 0 2
RBM20 0 0 2 0 0 2
REEP1 1 0 1 0 0 2
RELN 0 0 2 0 0 2
RFC1 0 2 0 0 0 2
RIT1 1 0 1 0 0 2
RMND1 0 1 1 0 0 2
RNASEH1 1 0 1 0 0 2
RNASEH2A 0 1 1 0 0 2
RNASEH2C 1 1 0 0 0 2
RNF13 0 0 2 0 0 2
ROGDI 1 1 0 0 0 2
RPGRIP1 0 2 0 0 0 2
RPGRIP1L 0 2 0 0 0 2
RPS24 0 1 1 0 0 2
RRM2B 0 1 1 0 0 2
RXYLT1 1 0 1 0 0 2
SCAPER 0 0 2 0 0 2
SCARB2 0 1 1 0 0 2
SCNN1G 0 0 2 0 0 2
SCYL1 0 2 0 0 0 2
SDHA 1 1 0 0 0 2
SEC23A 0 0 2 0 0 2
SEPSECS 1 0 1 0 0 2
SH2B3 0 1 1 0 0 2
SHANK3 0 0 2 0 0 2
SIGMAR1 0 0 2 0 0 2
SLC12A1 0 1 1 0 0 2
SLC12A2 0 0 2 0 0 2
SLC1A4 0 1 1 0 0 2
SLC25A1 1 0 1 0 0 2
SLC25A13 2 0 0 0 0 2
SLC26A2 0 1 1 0 0 2
SLC27A4 0 0 2 0 0 2
SLC29A3 1 0 1 0 0 2
SLC30A10 0 1 1 0 0 2
SLC45A1 0 0 2 0 0 2
SLC45A2 0 1 1 0 0 2
SLC52A3 0 0 2 0 0 2
SLC5A2 0 0 2 0 0 2
SLC6A19 0 1 1 0 0 2
SLC6A3 0 0 2 0 0 2
SLC6A9 0 0 2 0 0 2
SLC9A6 0 1 1 0 0 2
SLURP1 1 0 1 0 0 2
SLX4 0 1 1 0 0 2
SMARCA4 0 0 2 0 0 2
SMG9 0 0 2 0 0 2
SMPD4 1 0 1 0 0 2
SNCB 0 0 2 0 0 2
SOD1, SOD1-DT 1 1 0 0 0 2
SOS2 0 0 2 0 0 2
SOX9 1 0 1 0 0 2
SPAG1 0 1 1 0 0 2
SQSTM1 0 1 1 0 0 2
SRD5A3 1 0 1 0 0 2
SRP72 0 0 2 0 0 2
ST3GAL3 0 2 0 0 0 2
STIL 0 0 2 0 0 2
STIM1 0 0 2 0 0 2
SUPT16H 0 0 2 0 0 2
TAF2 0 0 2 0 0 2
TALDO1 0 1 1 0 0 2
TAOK1 0 0 2 0 0 2
TARS2 0 0 2 0 0 2
TBC1D8B 0 0 2 0 0 2
TBK1 0 0 2 0 0 2
TBR1 0 0 2 0 0 2
TCF4 0 1 1 0 0 2
TCN2 0 1 1 0 0 2
TCOF1 0 1 1 0 0 2
TEX14 0 0 2 0 0 2
TEX15 0 1 1 0 0 2
TFE3 0 0 2 0 0 2
TGFB1 1 1 0 0 0 2
TGFB3 0 1 1 0 0 2
TGFBI 2 0 0 0 0 2
TGFBR1 0 0 2 0 0 2
TGFBR2 0 1 1 0 0 2
THAP1 0 1 1 0 0 2
THOC6 2 0 0 0 0 2
TIMMDC1 0 1 1 0 0 2
TMC1 0 0 2 0 0 2
TMEM138 0 0 2 0 0 2
TMEM147 0 0 2 0 0 2
TMEM63A 0 0 2 0 0 2
TMEM94 0 2 0 0 0 2
TMIE 0 2 0 0 0 2
TMPRSS15 0 2 0 0 0 2
TMX2, TMX2-CTNND1 0 1 1 0 0 2
TNFAIP3 0 0 2 0 0 2
TNFRSF13B 0 0 2 0 0 2
TNNT1 0 1 1 0 0 2
TNPO3 0 1 1 0 0 2
TOE1 0 0 2 0 0 2
TRDN 0 1 1 0 0 2
TRMT1 0 1 1 0 0 2
TTC5 0 1 1 0 0 2
TTC7A 0 1 1 0 0 2
TUBA1A 0 1 1 0 0 2
TUBB2A 0 2 0 0 0 2
TUBB3 0 0 2 0 0 2
TUBGCP6 0 0 2 0 0 2
TULP1 0 1 1 0 0 2
UGP2 1 0 1 0 0 2
UROD 0 1 1 0 0 2
VAC14 0 1 1 0 0 2
VARS1 0 0 2 0 0 2
VCAN 0 0 2 0 0 2
VDR 0 0 2 0 0 2
VPS4A 0 0 2 0 0 2
WDR1 0 0 2 0 0 2
WDR11 0 0 2 0 0 2
WDR19 0 2 0 0 0 2
WDR81 0 1 1 0 0 2
WNT5A 0 1 1 0 0 2
WRN 1 0 1 0 0 2
XPC 1 1 0 0 0 2
ZBTB20 1 0 1 0 0 2
ZIC1 0 0 2 0 0 2
ZSWIM6 0 0 2 0 0 2
ABCA7, LOC130062871 0 0 1 0 0 1
ABCC2, LOC126861013 0 1 0 0 0 1
ABHD5 0 1 0 0 0 1
ACAD9 0 1 0 0 0 1
ACADSB 1 0 0 0 0 1
ACADVL 0 1 0 0 0 1
ACBD5 0 1 0 0 0 1
ACSF3 0 0 1 0 0 1
ACTC1, GJD2-DT 0 0 1 0 0 1
ACTG1 0 0 1 0 0 1
ACTN1 0 0 1 0 0 1
ACTN2 0 0 1 0 0 1
ACTN4 0 0 1 0 0 1
ACVR1 1 0 0 0 0 1
ACVRL1 1 0 0 0 0 1
ADA, LOC107303343 1 0 0 0 0 1
ADAMTS19 0 1 0 0 0 1
ADAMTSL2 0 0 1 0 0 1
ADARB1 0 0 1 0 0 1
ADH1C 0 0 1 0 0 1
ADPRS 1 0 0 0 0 1
AFF2 0 0 1 0 0 1
AFG3L2, TUBB6 0 0 1 0 0 1
AGBL1 0 0 1 0 0 1
AGR2 0 0 1 0 0 1
AIMP2 0 1 0 0 0 1
AIMP2, LOC129997917 0 0 1 0 0 1
AK2, LOC129930068 1 0 0 0 0 1
AKAP10 0 0 1 0 0 1
AKR1C2 0 0 1 0 0 1
AKT1 0 0 1 0 0 1
ALAS2 0 0 1 0 0 1
ALDH18A1 0 0 1 0 0 1
ALDH4A1 0 0 1 0 0 1
ALG11 0 0 1 0 0 1
ALG14, LOC129930989 0 0 1 0 0 1
ALG6 0 0 1 0 0 1
ALG8 1 0 0 0 0 1
ALOX12B 0 0 1 0 0 1
ALOXE3 0 0 1 0 0 1
AMD1, CDK19 0 0 1 0 0 1
AMN 0 0 1 0 0 1
AMN, LOC130056553 0 1 0 0 0 1
AMPD2 0 0 1 0 0 1
AMPD2, LOC126805822 0 1 0 0 0 1
AMT 0 1 0 0 0 1
AMT, NICN1 0 1 0 0 0 1
ANK1, LOC126860368 0 0 1 0 0 1
ANKH 1 0 0 0 0 1
ANXA5 0 0 1 0 0 1
AOPEP 0 1 0 0 0 1
AP1B1 0 0 1 0 0 1
AP1S1 0 0 1 0 0 1
AP3B1 0 1 0 0 0 1
AP3B2, CPEB1 0 1 0 0 0 1
AP3D1 0 0 1 0 0 1
AP4B1, DCLRE1B, LOC129931235 0 0 1 0 0 1
AP4M1 0 1 0 0 0 1
AP4S1 0 1 0 0 0 1
APC2, LOC130062956 0 0 1 0 0 1
APP 1 0 0 0 0 1
APRT 0 1 0 0 0 1
AQP2 1 0 0 0 0 1
AQP2, AQP5 0 0 1 0 0 1
ARFGEF1, CSPP1 0 0 1 0 0 1
ARFGEF2 0 1 0 0 0 1
ARHGEF10 0 0 1 0 0 1
ARHGEF18 0 1 0 0 0 1
ARHGEF2 0 0 1 0 0 1
ARHGEF9 0 0 1 0 0 1
ARID1A, LOC126805670 0 0 1 0 0 1
ARID1B, LOC115308161 0 1 0 0 0 1
ARSK 0 0 1 0 0 1
ARSK, LOC126807455 0 0 1 0 0 1
ARSL 0 0 1 0 0 1
ARV1 0 1 0 0 0 1
ASIC4, GMPPA 0 0 1 0 0 1
ASPH 1 0 0 0 0 1
ASXL2 0 1 0 0 0 1
ATF6 0 1 0 0 0 1
ATL1 1 0 0 0 0 1
ATL3, LNCROPM, LOC126861231 0 0 1 0 0 1
ATP1A2, LOC126805890 0 0 1 0 0 1
ATP2C1 0 1 0 0 0 1
ATP6AP2 0 0 1 0 0 1
ATXN7L3, LOC121587595, UBTF 0 0 1 0 0 1
AXIN2 0 0 1 0 0 1
B4GALT1 0 0 1 0 0 1
B9D1 0 0 1 0 0 1
B9D1, LOC130060455 0 0 1 0 0 1
BAAT 0 0 1 0 0 1
BACH2 0 0 1 0 0 1
BAG5 0 0 1 0 0 1
BBS1 0 1 0 0 0 1
BBS1, ZDHHC24 0 0 1 0 0 1
BBS5 0 1 0 0 0 1
BBS7 1 0 0 0 0 1
BBS7, LOC129993036 0 0 1 0 0 1
BCAS3 0 1 0 0 0 1
BCAT2 0 0 1 0 0 1
BCKDK 0 1 0 0 0 1
BCOR 0 0 1 0 0 1
BGN 0 0 1 0 0 1
BLOC1S3, EXOC3L2 0 0 1 0 0 1
BLOC1S6 0 1 0 0 0 1
BMPER 0 0 1 0 0 1
BMPR1A 0 1 0 0 0 1
BNC2 0 0 1 0 0 1
BPGM 0 0 1 0 0 1
BRF1, PACS2 0 0 1 0 0 1
BRPF1 0 0 1 0 0 1
BRWD3 0 0 1 0 0 1
BUB1B 0 0 1 0 0 1
C10orf105, CDH23 0 0 1 0 0 1
C17orf107, CHRNE 0 0 1 0 0 1
C17orf107, CHRNE, MINK1 1 0 0 0 0 1
C1QB 0 0 1 0 0 1
C1QBP 0 0 1 0 0 1
C1QC 0 0 1 0 0 1
C1R 0 1 0 0 0 1
C2CD3, LOC126861262 0 0 1 0 0 1
C7 1 0 0 0 0 1
C8B 0 0 1 0 0 1
CACNA1A, LOC126862864 1 0 0 0 0 1
CACNA1B 0 1 0 0 0 1
CACNA1F 0 1 0 0 0 1
CACNB2 0 0 1 0 0 1
CAD 0 0 1 0 0 1
CAD, LOC126806172 0 0 1 0 0 1
CAMTA1, LOC126805603 0 0 1 0 0 1
CAPN15 0 0 1 0 0 1
CAPN3, LOC126862115 0 0 1 0 0 1
CARD10 0 0 1 0 0 1
CARD14, SGSH 1 0 0 0 0 1
CARS2 0 1 0 0 0 1
CARS2, LOC130010127 0 0 1 0 0 1
CAST, LOC101929710, PCSK1 0 1 0 0 0 1
CAV1 0 0 1 0 0 1
CAVIN1 0 1 0 0 0 1
CC2D1A 0 0 1 0 0 1
CCDC22 0 0 1 0 0 1
CCDC39, TTC14 0 1 0 0 0 1
CCDC47 0 1 0 0 0 1
CCDC65 0 1 0 0 0 1
CCDST, FLG2 0 0 1 0 0 1
CCNH, RASA1 0 0 1 0 0 1
CCT5 0 0 1 0 0 1
CD151 0 0 1 0 0 1
CD247 0 0 1 0 0 1
CD3E 0 0 1 0 0 1
CD46 0 0 1 0 0 1
CD55 1 0 0 0 0 1
CD59 0 0 1 0 0 1
CD96 0 0 1 0 0 1
CDAN1, LOC130056932 0 0 1 0 0 1
CDC40 0 0 1 0 0 1
CDC42, LOC122056785 0 0 1 0 0 1
CDC73 1 0 0 0 0 1
CDK10 0 1 0 0 0 1
CDK13, LOC129998292 0 0 1 0 0 1
CDK19 0 0 1 0 0 1
CDK8 0 0 1 0 0 1
CDON 0 0 1 0 0 1
CDSN, PSORS1C1 0 1 0 0 0 1
CEL 0 0 1 0 0 1
CELF2 0 0 1 0 0 1
CEP128, TSHR 0 1 0 0 0 1
CEP135 1 0 0 0 0 1
CEP152 1 0 0 0 0 1
CEP164 0 1 0 0 0 1
CEP19 0 1 0 0 0 1
CEP250 0 0 1 0 0 1
CEP41 0 1 0 0 0 1
CERS1, GDF1 0 1 0 0 0 1
CERS3 0 0 1 0 0 1
CERT1 0 0 1 0 0 1
CETP 0 0 1 0 0 1
CFAP44, SPICE1-CFAP44 0 1 0 0 0 1
CFB 0 0 1 0 0 1
CFHR1 0 0 1 0 0 1
CHCHD10 0 0 1 0 0 1
CHD4 0 0 1 0 0 1
CHD7, LOC126860403 0 1 0 0 0 1
CHKA 0 0 1 0 0 1
CHRNA2 0 0 1 0 0 1
CHRNA4 0 0 1 0 0 1
CHRND 0 1 0 0 0 1
CHRNE 0 1 0 0 0 1
CIITA 0 0 1 0 0 1
CIZ1, DNM1 1 0 0 0 0 1
CKAP2L 0 0 1 0 0 1
CLCN1, LOC123956257 0 1 0 0 0 1
CLCN3 0 0 1 0 0 1
CLCN5, LOC126863258 0 1 0 0 0 1
CLCN6 0 0 1 0 0 1
CLN8 1 0 0 0 0 1
CLTC 0 0 1 0 0 1
CLTC, LOC125177523 0 0 1 0 0 1
CNGA1, LOC101927157 0 1 0 0 0 1
CNOT2 0 0 1 0 0 1
COA7 0 1 0 0 0 1
COASY, LOC130060908 0 0 1 0 0 1
COG1 0 0 1 0 0 1
COG4 0 1 0 0 0 1
COG5 0 0 1 0 0 1
COG6 0 0 1 0 0 1
COL12A1, LOC126859712 0 0 1 0 0 1
COL5A1, LOC101448202 0 0 1 0 0 1
COL5A2 0 0 1 0 0 1
COL6A3, LOC122889011 1 0 0 0 0 1
COQ2 0 0 1 0 0 1
COQ6, ENTPD5 0 0 1 0 0 1
COQ8B 0 0 1 0 0 1
COQ9 0 0 1 0 0 1
COX11 0 0 1 0 0 1
CPA6 0 0 1 0 0 1
CPAMD8 0 1 0 0 0 1
CPAP 0 0 1 0 0 1
CPS1 0 0 1 0 0 1
CPT1C 0 0 1 0 0 1
CRB2 0 0 1 0 0 1
CREB3L1 0 1 0 0 0 1
CRLF1, LOC112543470 0 1 0 0 0 1
CRPPA 0 0 1 0 0 1
CSF2RA 0 0 1 0 0 1
CSTB, LOC130066788 0 1 0 0 0 1
CTC1, PFAS 0 0 1 0 0 1
CTCF 0 0 1 0 0 1
CTDP1 0 0 1 0 0 1
CTNNB1, LOC126806659 0 0 1 0 0 1
CTNND1, TMX2-CTNND1 0 0 1 0 0 1
CTSC 0 1 0 0 0 1
CUBN 0 1 0 0 0 1
CUL3 0 0 1 0 0 1
CUL4B 0 1 0 0 0 1
CYBB 0 1 0 0 0 1
CYFIP2 0 0 1 0 0 1
CYFIP2, NIPAL4-DT 0 0 1 0 0 1
CYLD, NOD2 0 0 1 0 0 1
CYP11A1 0 0 1 0 0 1
CYP24A1 0 0 1 0 0 1
CYP2R1, PDE3B 0 1 0 0 0 1
CYP2U1, SGMS2 0 0 1 0 0 1
CYP3A4 0 0 1 0 0 1
DACT1 0 0 1 0 0 1
DAG1 0 0 1 0 0 1
DBT 0 0 1 0 0 1
DCDC2, KAAG1 0 0 1 0 0 1
DCPS, GSEC 0 1 0 0 0 1
DDB1 0 0 1 0 0 1
DDB2 0 0 1 0 0 1
DDX17 0 0 1 0 0 1
DDX23 0 0 1 0 0 1
DDX41 0 0 1 0 0 1
DEF6 0 1 0 0 0 1
DGAT1 0 0 1 0 0 1
DGUOK 0 0 1 0 0 1
DHDDS 0 0 1 0 0 1
DHODH 0 0 1 0 0 1
DHPS 0 1 0 0 0 1
DHX37 0 0 1 0 0 1
DIAPH1 0 0 1 0 0 1
DIS3L2 0 0 1 0 0 1
DLD 1 0 0 0 0 1
DLG3 0 0 1 0 0 1
DLL3 1 0 0 0 0 1
DLL3, LOC130064417, PLEKHG2 1 0 0 0 0 1
DMXL2 0 0 1 0 0 1
DNA2 0 1 0 0 0 1
DNAAF19 1 0 0 0 0 1
DNAAF2 0 1 0 0 0 1
DNAAF4, DNAAF4-CCPG1 1 0 0 0 0 1
DNAAF5 0 1 0 0 0 1
DNAH11, LOC126859961 0 1 0 0 0 1
DNASE1 0 0 1 0 0 1
DNM1, LOC113839516 0 0 1 0 0 1
DNM1, LOC130002698 0 1 0 0 0 1
DOCK2 0 1 0 0 0 1
DOCK6 0 0 1 0 0 1
DPH2 0 1 0 0 0 1
DPH5, SLC30A7 0 0 1 0 0 1
DPP6 0 0 1 0 0 1
DPYD 1 0 0 0 0 1
DPYSL5 0 0 1 0 0 1
DRD5, SLC2A9 0 0 1 0 0 1
DSE, TSPYL1 0 0 1 0 0 1
DYNC1H1, LOC126862060 0 0 1 0 0 1
DYRK1B 0 0 1 0 0 1
EDA 0 1 0 0 0 1
EDARADD 1 0 0 0 0 1
EDNRB 0 0 1 0 0 1
EEF1A2 0 1 0 0 0 1
EEF1A2, LOC132090595 0 0 1 0 0 1
EGFR 1 0 0 0 0 1
EGLN1 0 0 1 0 0 1
EIF2AK1 0 0 1 0 0 1
EIF2AK2 0 0 1 0 0 1
EIF2AK4 0 1 0 0 0 1
EIF2B1 0 0 1 0 0 1
ELMOD3 0 0 1 0 0 1
ELOVL4 0 0 1 0 0 1
EMC10 0 1 0 0 0 1
EPAS1 0 0 1 0 0 1
EPAS1, LOC126806210 0 0 1 0 0 1
EPM2A, EPM2A-DT, LOC129997381 0 1 0 0 0 1
EPOR 0 0 1 0 0 1
EPRS1 0 0 1 0 0 1
EPS8L2 0 0 1 0 0 1
ERBB3 0 0 1 0 0 1
ERCC1 0 1 0 0 0 1
ERCC6, LOC126860933 1 0 0 0 0 1
ERCC6L2 0 1 0 0 0 1
ERCC8 0 0 1 0 0 1
ERF 0 1 0 0 0 1
ERGIC1 0 0 1 0 0 1
ESAM 0 1 0 0 0 1
ESCO2 1 0 0 0 0 1
ETV6 0 0 1 0 0 1
EVC 0 1 0 0 0 1
EXOC6B 0 1 0 0 0 1
EXOC7 0 0 1 0 0 1
EXOSC8, LOC130009581 0 0 1 0 0 1
EXT2 1 0 0 0 0 1
EZH2 0 0 1 0 0 1
F10 0 0 1 0 0 1
F12 0 1 0 0 0 1
F13A1 0 0 1 0 0 1
F2 0 0 1 0 0 1
FADD 0 1 0 0 0 1
FAM111B 0 0 1 0 0 1
FAM20A 0 1 0 0 0 1
FANCA, LOC112486223 1 0 0 0 0 1
FANCA, LOC130059837 0 1 0 0 0 1
FANCB 0 1 0 0 0 1
FANCB, GLRA2 0 0 1 0 0 1
FANCC 0 1 0 0 0 1
FANCI, POLG 1 0 0 0 0 1
FANCM, LOC130055524 0 0 1 0 0 1
FASLG 0 0 1 0 0 1
FASTKD2 0 0 1 0 0 1
FAT1 0 0 1 0 0 1
FAT2, SLC36A1 0 0 1 0 0 1
FAT4 0 0 1 0 0 1
FBLN1 0 0 1 0 0 1
FBN2, LOC126807501 0 0 1 0 0 1
FBP2 0 0 1 0 0 1
FBXO28 0 0 1 0 0 1
FBXO38 0 0 1 0 0 1
FDXR 0 0 1 0 0 1
FDXR, LOC112533667 0 1 0 0 0 1
FERMT3 0 1 0 0 0 1
FERRY3 0 1 0 0 0 1
FEZF1 0 0 1 0 0 1
FGA 0 1 0 0 0 1
FGD4 0 0 1 0 0 1
FGF14 0 0 1 0 0 1
FGF3 0 0 1 0 0 1
FHOD3 0 0 1 0 0 1
FIBP 0 0 1 0 0 1
FKRP 0 0 1 0 0 1
FLCN 1 0 0 0 0 1
FLVCR1 0 1 0 0 0 1
FLVCR2 0 0 1 0 0 1
FMN2 0 0 1 0 0 1
FMR1 0 0 1 0 0 1
FN1, LOC126806498 0 0 1 0 0 1
FN1, LOC126806499 0 0 1 0 0 1
FOXC1, LOC129995601 1 0 0 0 0 1
FOXJ1 0 0 1 0 0 1
FOXN1 0 1 0 0 0 1
FOXP3 1 0 0 0 0 1
FOXRED1 0 1 0 0 0 1
FPGT-TNNI3K, LRRC53, TNNI3K 0 1 0 0 0 1
FPGT-TNNI3K, TNNI3K 0 0 1 0 0 1
FRA10AC1 0 1 0 0 0 1
FREM1 0 1 0 0 0 1
FRMD4A, PRPF18 0 0 1 0 0 1
FRMD7 0 0 1 0 0 1
FRMPD4 0 0 1 0 0 1
FSIP2 0 0 1 0 0 1
G6PC1 0 0 1 0 0 1
G6PC3 1 0 0 0 0 1
GABBR1 0 0 1 0 0 1
GABRA2 0 0 1 0 0 1
GAD1 0 0 1 0 0 1
GALNT12 0 0 1 0 0 1
GALNT2 0 0 1 0 0 1
GALNT3 0 1 0 0 0 1
GAN 0 0 1 0 0 1
GAN, LOC130059498 0 0 1 0 0 1
GANAB 0 0 1 0 0 1
GARS1 1 0 0 0 0 1
GATA1 0 1 0 0 0 1
GATA2 0 0 1 0 0 1
GATA6 0 1 0 0 0 1
GBF1 0 0 1 0 0 1
GCDH, LOC117125594 0 0 1 0 0 1
GCK 0 0 1 0 0 1
GCLC 0 0 1 0 0 1
GDF3 0 0 1 0 0 1
GDF5 0 0 1 0 0 1
GFI1B 1 0 0 0 0 1
GFM2 0 1 0 0 0 1
GFRA1 0 0 1 0 0 1
GIMAP1-GIMAP5, GIMAP5 1 0 0 0 0 1
GJA5, LOC122128420 0 0 1 0 0 1
GJA8 1 0 0 0 0 1
GJB6 0 0 1 0 0 1
GLE1 0 1 0 0 0 1
GLE1, LOC101929270 0 0 1 0 0 1
GLI1 0 0 1 0 0 1
GLS, LOC129935269 0 0 1 0 0 1
GNAI1 0 0 1 0 0 1
GNG12, LOC126805752, WLS 0 0 1 0 0 1
GNG12, WLS 0 0 1 0 0 1
GNRHR 1 0 0 0 0 1
GOLGA2 0 1 0 0 0 1
GORAB 0 1 0 0 0 1
GP9 0 1 0 0 0 1
GPAA1 0 0 1 0 0 1
GPC4 0 0 1 0 0 1
GPHN 0 1 0 0 0 1
GPHN, PIGH 1 0 0 0 0 1
GPHN, RDH12 1 0 0 0 0 1
GPR179 0 1 0 0 0 1
GPSM2 0 1 0 0 0 1
GRHL3 0 0 1 0 0 1
GRIA1 0 0 1 0 0 1
GRIN2D, LOC130064855 0 0 1 0 0 1
GRIN2D, LOC130064856 0 0 1 0 0 1
GRM6 0 1 0 0 0 1
GRM6, ZNF454 0 1 0 0 0 1
GRN 0 1 0 0 0 1
GSDME 0 0 1 0 0 1
GSN 0 0 1 0 0 1
GSR, LOC130000170 0 1 0 0 0 1
GUCA1B 0 0 1 0 0 1
GUCY1A1 0 1 0 0 0 1
HADHA 0 0 1 0 0 1
HARS1 0 0 1 0 0 1
HEPHL1 0 1 0 0 0 1
HERC1 0 0 1 0 0 1
HESX1 0 0 1 0 0 1
HFM1 0 1 0 0 0 1
HIKESHI 0 1 0 0 0 1
HINT1 1 0 0 0 0 1
HMOX1 0 0 1 0 0 1
HNF4A 0 0 1 0 0 1
HNRNPDL 0 0 1 0 0 1
HOXA11, LOC107126281 0 0 1 0 0 1
HOXA13, LOC107126288 0 0 1 0 0 1
HPCA 0 0 1 0 0 1
HPDL 0 0 1 0 0 1
HPS3 0 1 0 0 0 1
HPS4 0 0 1 0 0 1
HPS5 0 1 0 0 0 1
HR 0 0 1 0 0 1
HS6ST2 0 0 1 0 0 1
HSCB 0 0 1 0 0 1
HSD11B2 0 0 1 0 0 1
HSPB1 0 0 1 0 0 1
HTRA1 0 0 1 0 0 1
HUWE1, LOC126863263 0 0 1 0 0 1
HYLS1, PUS3 0 0 1 0 0 1
IARS1 0 0 1 0 0 1
ICOS 0 1 0 0 0 1
IFT122, LOC126806810 0 0 1 0 0 1
IFT140 0 0 1 0 0 1
IFT140, LOC105371046 0 1 0 0 0 1
IFT140, LOC126862260 0 0 1 0 0 1
IFT172, LOC126806174 0 0 1 0 0 1
IGF1R, LOC126862245 0 0 1 0 0 1
IGHMBP2, LOC126861245 0 0 1 0 0 1
IGSF1 0 1 0 0 0 1
IKZF1 0 0 1 0 0 1
IL12RB1, LOC130063972 0 0 1 0 0 1
IL17F 0 0 1 0 0 1
IL17RA 0 1 0 0 0 1
IL17RD, LOC129936924 0 0 1 0 0 1
IL21R 0 0 1 0 0 1
IL2RB 0 0 1 0 0 1
IMPDH1 0 1 0 0 0 1
IMPG2 0 1 0 0 0 1
INSR 0 0 1 0 0 1
IRAK1BP1, PHIP 0 0 1 0 0 1
IRF2BP2, LOC129932811 0 0 1 0 0 1
IRF8 0 0 1 0 0 1
IRF9 0 0 1 0 0 1
IRS2 0 0 1 0 0 1
ISCA1, LOC130001967 0 0 1 0 0 1
ITGA3 0 0 1 0 0 1
ITGB4 1 0 0 0 0 1
ITPA 0 1 0 0 0 1
ITPR1, LOC126806590 0 0 1 0 0 1
ITSN1 0 0 1 0 0 1
JAG2 0 0 1 0 0 1
JARID2 0 0 1 0 0 1
JMJD8, STUB1 0 0 1 0 0 1
JPH2 0 0 1 0 0 1
KANK1 0 0 1 0 0 1
KARS1 0 0 1 0 0 1
KARS1, LOC126862402 0 0 1 0 0 1
KAT5 0 0 1 0 0 1
KAT5, RNASEH2C 0 0 1 0 0 1
KATNB1 0 1 0 0 0 1
KCNE2, LOC105372791 0 1 0 0 0 1
KCNH2 0 0 1 0 0 1
KCNJ2 0 0 1 0 0 1
KCNV2 0 1 0 0 0 1
KCTD17 0 0 1 0 0 1
KDM1A 0 0 1 0 0 1
KDM5B 0 1 0 0 0 1
KIF15 0 0 1 0 0 1
KIF1B 0 0 1 0 0 1
KIF1B, LOC126805614 0 0 1 0 0 1
KIF1C 0 0 1 0 0 1
KIF26A 0 0 1 0 0 1
KIF4A 0 0 1 0 0 1
KIF7 0 0 1 0 0 1
KIFBP 0 0 1 0 0 1
KIFBP, LOC130003959 0 1 0 0 0 1
KIT 1 0 0 0 0 1
KLF1, LOC130063673 0 0 1 0 0 1
KMT2A, TTC36 0 0 1 0 0 1
KMT2D, LOC126861520 0 0 1 0 0 1
KMT5B 0 0 1 0 0 1
KRT10 1 0 0 0 0 1
KRT16 0 1 0 0 0 1
KRT5, LOC126861525 0 1 0 0 0 1
KRT9 1 0 0 0 0 1
LACC1 0 1 0 0 0 1
LAGE3, LOC130068876 0 0 1 0 0 1
LALTOP, TPO 1 0 0 0 0 1
LAMA5, LOC130066305 0 0 1 0 0 1
LARS1 0 0 1 0 0 1
LARS2 0 0 1 0 0 1
LCAT 0 1 0 0 0 1
LDHD 0 0 1 0 0 1
LEMD3 0 0 1 0 0 1
LEPR 0 1 0 0 0 1
LGI3 0 1 0 0 0 1
LGI4 0 0 1 0 0 1
LHCGR, STON1-GTF2A1L 0 0 1 0 0 1
LIG1 0 0 1 0 0 1
LIG3 0 0 1 0 0 1
LIG4 0 0 1 0 0 1
LIMS2 0 1 0 0 0 1
LINS1 0 0 1 0 0 1
LIPE, LOC101930071 0 0 1 0 0 1
LIPH 0 1 0 0 0 1
LIPT2 0 0 1 0 0 1
LMBRD1 0 0 1 0 0 1
LMNA, LOC126805877 0 0 1 0 0 1
LMNB2 0 0 1 0 0 1
LMNB2, LOC130063065 0 0 1 0 0 1
LMOD3 0 1 0 0 0 1
LMX1A 0 0 1 0 0 1
LMX1B 0 0 1 0 0 1
LOC100287944, POLR3B 0 0 1 0 0 1
LOC100507346, PTCH1 0 0 1 0 0 1
LOC101927178, PPP2R3C 0 0 1 0 0 1
LOC101928525, MRPS2 0 0 1 0 0 1
LOC105371856, TANC2 0 0 1 0 0 1
LOC106780803, TNXB 0 0 1 0 0 1
LOC107652445, SHOX 0 1 0 0 0 1
LOC110121269, SCN5A 0 0 1 0 0 1
LOC112533672, UNC13D 0 1 0 0 0 1
LOC114803468, MACF1 0 0 1 0 0 1
LOC114827850, MYL2 0 1 0 0 0 1
LOC121740638, TFAP2A 0 0 1 0 0 1
LOC122152296, USH2A 0 0 1 0 0 1
LOC124629354, PRPH, TROAP 0 1 0 0 0 1
LOC126805612, PIK3CD 0 0 1 0 0 1
LOC126805688, YARS1 0 0 1 0 0 1
LOC126806306, NPHP1 1 0 0 0 0 1
LOC126806424, TTN 0 1 0 0 0 1
LOC126859646, VARS2 0 0 1 0 0 1
LOC126860121, TRRAP 0 0 1 0 0 1
LOC126860970, POLR3A 0 1 0 0 0 1
LOC126861318, MMP13 0 0 1 0 0 1
LOC126861878, TTC5 0 1 0 0 0 1
LOC126861887, SUPT16H 0 0 1 0 0 1
LOC126861896, MYH6 0 0 1 0 0 1
LOC126862088, TRPM1 0 0 1 0 0 1
LOC126862130, TRPM7 0 0 1 0 0 1
LOC126862696, PIEZO2 0 1 0 0 0 1
LOC126862902, RYR1 0 0 1 0 0 1
LOC126862987, SEC23B 0 1 0 0 0 1
LOC126863160, NAGA 0 1 0 0 0 1
LOC128772343, SOX6 0 0 1 0 0 1
LOC129390903, RAD51C 0 0 1 0 0 1
LOC129929030, PRKDC 0 0 1 0 0 1
LOC129930616, MYSM1 0 0 1 0 0 1
LOC129931062, RNPC3 0 0 1 0 0 1
LOC129934128, MOGS 0 0 1 0 0 1
LOC129935183, TTN 0 1 0 0 0 1
LOC129935594, PNKD 0 0 1 0 0 1
LOC129936713, UQCRC1 0 0 1 0 0 1
LOC129936730, NDUFAF3 0 1 0 0 0 1
LOC129937586, NPHP3, NPHP3-ACAD11 0 0 1 0 0 1
LOC129996727, SLC17A5 0 0 1 0 0 1
LOC129997052, RSPH4A 0 0 1 0 0 1
LOC129997872, WIPI2 0 0 1 0 0 1
LOC129998833, SLC25A13 0 1 0 0 0 1
LOC130001338, PLEC 1 0 0 0 0 1
LOC130006797, ZPR1 0 0 1 0 0 1
LOC130008987, ORAI1 0 1 0 0 0 1
LOC130059554, MLYCD 0 0 1 0 0 1
LOC130059892, SERPINF1 0 0 1 0 0 1
LOC130060311, TTC19 0 0 1 0 0 1
LOC130060574, NEK8 0 0 1 0 0 1
LOC130062254, MIB1 0 0 1 0 0 1
LOC130062899, STK11 0 0 1 0 0 1
LOC130064279, SDHAF1 0 0 1 0 0 1
LOC130064467, SPTBN4 0 0 1 0 0 1
LOC130065345, PANK2 1 0 0 0 0 1
LOC130065433, NDUFAF5 0 0 1 0 0 1
LOC130066806, TRAPPC10 0 0 1 0 0 1
LOC130067016, LZTR1 1 0 0 0 0 1
LOC130067864, TYMP 0 0 1 0 0 1
LOC130068747, SLC9A6 0 0 1 0 0 1
LOC132090059, PUS1 1 0 0 0 0 1
LOC340512, ZNF462 0 0 1 0 0 1
LOXL3 0 0 1 0 0 1
LRRC41, RAD54L 0 0 1 0 0 1
LRRK1 0 0 1 0 0 1
LSS 0 0 1 0 0 1
LTBP1 0 0 1 0 0 1
LURAP1L, TYRP1 0 0 1 0 0 1
LYRM7 0 1 0 0 0 1
MAF, WWOX 0 0 1 0 0 1
MAFA 0 0 1 0 0 1
MAG 0 1 0 0 0 1
MALT1 0 0 1 0 0 1
MAMLD1 0 0 1 0 0 1
MAN2C1 0 0 1 0 0 1
MAP2 0 0 1 0 0 1
MAP2K1 1 0 0 0 0 1
MAPKAPK3 0 0 1 0 0 1
MAPKBP1 0 0 1 0 0 1
MARS2 0 0 1 0 0 1
MARVELD2 0 1 0 0 0 1
MASP1 0 1 0 0 0 1
MATR3 0 0 1 0 0 1
MBOAT7 0 1 0 0 0 1
MCIDAS 0 0 1 0 0 1
MCM3AP 0 0 1 0 0 1
MCM9 1 0 0 0 0 1
MCOLN1 1 0 0 0 0 1
MED12L, P2RY12 0 0 1 0 0 1
MED17 0 0 1 0 0 1
MED25 0 0 1 0 0 1
MERTK 0 0 1 0 0 1
METTL5 1 0 0 0 0 1
MFSD2A 0 0 1 0 0 1
MHRT, MYH7 0 1 0 0 0 1
MIA3 0 0 1 0 0 1
MID1 0 0 1 0 0 1
MINPP1 1 0 0 0 0 1
MITF 0 0 1 0 0 1
MLC1 0 0 1 0 0 1
MLPH 0 0 1 0 0 1
MMAB 1 0 0 0 0 1
MMAB, MVK 0 0 1 0 0 1
MMP13 0 0 1 0 0 1
MNS1, TEX9 0 0 1 0 0 1
MOGS 0 0 1 0 0 1
MPC1 0 0 1 0 0 1
MPLKIP 0 1 0 0 0 1
MPO 0 0 1 0 0 1
MRPL3 0 0 1 0 0 1
MRPS2 0 0 1 0 0 1
MRTFA 0 0 1 0 0 1
MSH3 0 0 1 0 0 1
MSRB3 1 0 0 0 0 1
MTM1 1 0 0 0 0 1
MTR 0 1 0 0 0 1
MTRR 0 1 0 0 0 1
MTSS2 0 0 1 0 0 1
MTX2 0 1 0 0 0 1
MUC5B 0 0 1 0 0 1
MUSK 0 0 1 0 0 1
MVD 1 0 0 0 0 1
MYCL, TRIT1 0 0 1 0 0 1
MYH11 0 0 1 0 0 1
MYH3 0 0 1 0 0 1
MYO5B, SNHG22 0 0 1 0 0 1
MYO6 0 0 1 0 0 1
MYOD1 0 1 0 0 0 1
MYRF 0 0 1 0 0 1
MYSM1 0 0 1 0 0 1
NAA10 1 0 0 0 0 1
NAGS 0 1 0 0 0 1
NBN 1 0 0 0 0 1
NCAPD2 0 1 0 0 0 1
NCAPD3 0 0 1 0 0 1
NCDN 0 0 1 0 0 1
NCR1, NLRP7 0 0 1 0 0 1
NCSTN 0 1 0 0 0 1
NDP 0 1 0 0 0 1
NDRG1 0 0 1 0 0 1
NDUFA10 0 1 0 0 0 1
NDUFA12 1 0 0 0 0 1
NDUFA9 0 1 0 0 0 1
NDUFAF5 0 0 1 0 0 1
NDUFS3 0 0 1 0 0 1
NDUFS4 0 1 0 0 0 1
NEDD4L 0 0 1 0 0 1
NEK9 0 0 1 0 0 1
NEU1 0 1 0 0 0 1
NEXN 0 0 1 0 0 1
NF2 0 0 1 0 0 1
NFASC 0 0 1 0 0 1
NGLY1 1 0 0 0 0 1
NHS 0 1 0 0 0 1
NIPA1 1 0 0 0 0 1
NKAP 0 0 1 0 0 1
NKX2-5 0 1 0 0 0 1
NLGN4X 0 0 1 0 0 1
NLRP1 0 0 1 0 0 1
NNT 0 0 1 0 0 1
NOBOX 0 0 1 0 0 1
NOS3 0 0 1 0 0 1
NPHP1 1 0 0 0 0 1
NPHP3-ACAD11, UBA5 0 1 0 0 0 1
NR1H4 0 0 1 0 0 1
NR2E3 0 1 0 0 0 1
NR4A2 0 0 1 0 0 1
NR5A1 0 0 1 0 0 1
NRXN1 0 0 1 0 0 1
NSD2 0 0 1 0 0 1
NTRK2 0 0 1 0 0 1
NUAK2 0 0 1 0 0 1
OAS1 0 0 1 0 0 1
OAT 1 0 0 0 0 1
OGDH 0 0 1 0 0 1
OGDHL 0 0 1 0 0 1
OPTN 0 0 1 0 0 1
OSGEP 0 0 1 0 0 1
OSTC 0 0 1 0 0 1
OTOGL 0 1 0 0 0 1
PACRG, PRKN 1 0 0 0 0 1
PACS1 0 0 1 0 0 1
PAFAH1B1 0 1 0 0 0 1
PAK1 0 0 1 0 0 1
PARS2 0 0 1 0 0 1
PAX1 0 0 1 0 0 1
PAX6 1 0 0 0 0 1
PCDH12, RNF14 1 0 0 0 0 1
PCDH15 0 0 1 0 0 1
PCYT1A 0 0 1 0 0 1
PDE1C 0 0 1 0 0 1
PDE2A 0 0 1 0 0 1
PDE4D 0 0 1 0 0 1
PDE8B 0 0 1 0 0 1
PDGFB 0 0 1 0 0 1
PDGFRA 0 0 1 0 0 1
PDGFRB 0 0 1 0 0 1
PDXK 1 0 0 0 0 1
PET100, STXBP2 0 0 1 0 0 1
PEX1 0 1 0 0 0 1
PEX12 0 0 1 0 0 1
PEX5 0 1 0 0 0 1
PEX7 0 1 0 0 0 1
PGK1 0 0 1 0 0 1
PHF6 0 0 1 0 0 1
PHGDH 1 0 0 0 0 1
PIGM 1 0 0 0 0 1
PIGN 0 1 0 0 0 1
PIGQ 0 0 1 0 0 1
PIGV 0 0 1 0 0 1
PIK3CA 0 0 1 0 0 1
PISD 1 0 0 0 0 1
PJVK 0 1 0 0 0 1
PKDCC 0 1 0 0 0 1
PKP1 0 1 0 0 0 1
PLCB4 0 0 1 0 0 1
PLD1 0 0 1 0 0 1
PLD3 0 0 1 0 0 1
PLEKHG3, SPTB 0 0 1 0 0 1
PLEKHM1 0 0 1 0 0 1
PLIN1 0 0 1 0 0 1
PLVAP 0 0 1 0 0 1
PMPCA 0 0 1 0 0 1
PMS1 0 0 1 0 0 1
PNKD 0 0 1 0 0 1
PNPLA6 0 1 0 0 0 1
POLR1A 0 0 1 0 0 1
POMGNT1 0 1 0 0 0 1
POMGNT2 0 0 1 0 0 1
POP1 0 1 0 0 0 1
PPA2 0 1 0 0 0 1
PPARG 0 0 1 0 0 1
PPM1D 0 0 1 0 0 1
PPOX 0 0 1 0 0 1
PPP1R21 0 1 0 0 0 1
PRDM16 0 0 1 0 0 1
PRDM5 0 0 1 0 0 1
PRDX3 0 0 1 0 0 1
PRG4, TPR 0 1 0 0 0 1
PRKACA 0 0 1 0 0 1
PRKAR1B 0 0 1 0 0 1
PRKCG 0 0 1 0 0 1
PRKCSH 0 1 0 0 0 1
PRMT7 0 1 0 0 0 1
PROKR2 0 0 1 0 0 1
PROM1 0 0 1 0 0 1
PROS1 0 0 1 0 0 1
PRPF31 0 1 0 0 0 1
PRPH2 0 0 1 0 0 1
PRPS1 0 1 0 0 0 1
PRX 0 0 1 0 0 1
PSEN2 0 0 1 0 0 1
PSENEN 0 0 1 0 0 1
PSMB8 0 0 1 0 0 1
PSMD12 0 0 1 0 0 1
PTH 0 0 1 0 0 1
PTH1R 0 0 1 0 0 1
PTPN23 0 0 1 0 0 1
PTPRQ 0 0 1 0 0 1
PTS 1 0 0 0 0 1
PUM1 0 0 1 0 0 1
PURA 0 0 1 0 0 1
PYROXD1 0 0 1 0 0 1
QDPR 0 1 0 0 0 1
QRSL1 0 0 1 0 0 1
RAB28 0 1 0 0 0 1
RAC2 0 0 1 0 0 1
RAC3 0 0 1 0 0 1
RAD50 1 0 0 0 0 1
RAD50, TH2LCRR 0 0 1 0 0 1
RAD51 0 0 1 0 0 1
RAG2 0 0 1 0 0 1
RAI1 0 0 1 0 0 1
RAPSN 0 1 0 0 0 1
RARS1 0 1 0 0 0 1
RASGRP1 0 1 0 0 0 1
RASGRP2 1 0 0 0 0 1
RBPJ 0 0 1 0 0 1
RDX 0 1 0 0 0 1
RELN, SLC26A5 0 0 1 0 0 1
REN 0 0 1 0 0 1
REPS2 0 0 1 0 0 1
RFXANK 0 1 0 0 0 1
RHBDF2 0 0 1 0 0 1
RIPK1 0 0 1 0 0 1
RLIM 0 0 1 0 0 1
RNASEL 0 0 1 0 0 1
RNASET2 0 1 0 0 0 1
RNF170 0 0 1 0 0 1
RNF2 0 0 1 0 0 1
RNF216 0 0 1 0 0 1
ROBO4 0 0 1 0 0 1
ROR2 0 1 0 0 0 1
RORB 0 0 1 0 0 1
RORC 0 1 0 0 0 1
RPA1 0 0 1 0 0 1
RPGR 0 0 1 0 0 1
RPL13 0 0 1 0 0 1
RPL3L 0 0 1 0 0 1
RPS6KA3 0 1 0 0 0 1
RPSA 0 0 1 0 0 1
RRAS2 0 0 1 0 0 1
RS1 1 0 0 0 0 1
RSPH3 0 1 0 0 0 1
RSPO1 0 1 0 0 0 1
SAG 1 0 0 0 0 1
SALL4 0 0 1 0 0 1
SAMHD1 0 0 1 0 0 1
SAR1B 0 0 1 0 0 1
SASS6 0 1 0 0 0 1
SATB2 1 0 0 0 0 1
SBF2 0 0 1 0 0 1
SCN10A 0 0 1 0 0 1
SCN1A, SCN9A 0 0 1 0 0 1
SCN9A 0 1 0 0 0 1
SCNN1A 0 0 1 0 0 1
SCYL2 0 1 0 0 0 1
SDCCAG8 0 1 0 0 0 1
SDHB 0 0 1 0 0 1
SDHC 0 0 1 0 0 1
SDR9C7 0 0 1 0 0 1
SEMA6B 0 0 1 0 0 1
SERAC1 0 0 1 0 0 1
SERPINB8 0 1 0 0 0 1
SERPINF1 0 0 1 0 0 1
SERPING1 1 0 0 0 0 1
SERPINH1 0 0 1 0 0 1
SET 0 0 1 0 0 1
SF3B2 0 0 1 0 0 1
SF3B4 0 0 1 0 0 1
SFTPA2 0 0 1 0 0 1
SFTPB 0 1 0 0 0 1
SFTPC 1 0 0 0 0 1
SGO1 1 0 0 0 0 1
SHH 0 0 1 0 0 1
SHMT2 0 0 1 0 0 1
SHOC2 1 0 0 0 0 1
SHROOM4 0 0 1 0 0 1
SIL1 1 0 0 0 0 1
SKI 0 0 1 0 0 1
SLC13A3 0 0 1 0 0 1
SLC18A2 0 0 1 0 0 1
SLC19A2 0 1 0 0 0 1
SLC19A3 1 0 0 0 0 1
SLC20A2 0 0 1 0 0 1
SLC25A19 0 0 1 0 0 1
SLC25A21 0 0 1 0 0 1
SLC25A24 0 0 1 0 0 1
SLC25A38 0 1 0 0 0 1
SLC25A46 0 0 1 0 0 1
SLC26A5 0 0 1 0 0 1
SLC30A9 0 0 1 0 0 1
SLC35C1 0 0 1 0 0 1
SLC35D1 0 0 1 0 0 1
SLC39A7 0 0 1 0 0 1
SLC46A1 0 1 0 0 0 1
SLC52A1 0 0 1 0 0 1
SLC5A1 0 0 1 0 0 1
SLC5A5 0 1 0 0 0 1
SLC6A20 0 0 1 0 0 1
SLC6A5 0 0 1 0 0 1
SLC9A7 0 0 1 0 0 1
SLCO1B1 0 0 1 0 0 1
SLCO1B3, SLCO1B3-SLCO1B7 0 0 1 0 0 1
SLFN14 0 0 1 0 0 1
SMAD6 0 0 1 0 0 1
SMARCC2 0 0 1 0 0 1
SMARCD2 0 1 0 0 0 1
SMARCE1 0 0 1 0 0 1
SMC3 0 0 1 0 0 1
SMCHD1 0 0 1 0 0 1
SMN1 0 0 1 0 0 1
SMPX 0 0 1 0 0 1
SNORD118, TMEM107 0 1 0 0 0 1
SNRNP200 0 0 1 0 0 1
SNX10 0 1 0 0 0 1
SOD1 0 1 0 0 0 1
SOHLH1 0 0 1 0 0 1
SORD 1 0 0 0 0 1
SOX11 0 0 1 0 0 1
SOX3 0 0 1 0 0 1
SOX5 0 0 1 0 0 1
SP110 0 1 0 0 0 1
SPART 0 1 0 0 0 1
SPG21 1 0 0 0 0 1
SPIDR 0 0 1 0 0 1
SPINK1 1 0 0 0 0 1
SPRED1 0 0 1 0 0 1
SRC 0 0 1 0 0 1
SRP54 1 0 0 0 0 1
SRPX2 0 0 1 0 0 1
SSR4 0 0 1 0 0 1
ST3GAL5 0 1 0 0 0 1
STAMBP 0 0 1 0 0 1
STARD9 0 0 1 0 0 1
STAT2 0 0 1 0 0 1
STING1 0 0 1 0 0 1
STT3A 0 0 1 0 0 1
SUFU 0 0 1 0 0 1
SUGCT 0 1 0 0 0 1
SYN1 0 0 1 0 0 1
SYNJ1 0 0 1 0 0 1
SYP 0 0 1 0 0 1
SYT1 0 0 1 0 0 1
TACR3 0 0 1 0 0 1
TAMM41 0 0 1 0 0 1
TAP2 0 0 1 0 0 1
TBC1D2B 0 0 1 0 0 1
TBCEL-TECTA, TECTA 0 0 1 0 0 1
TBX3 0 0 1 0 0 1
TBX4 0 0 1 0 0 1
TCTN3 0 0 1 0 0 1
TECPR2 0 1 0 0 0 1
TF 0 0 1 0 0 1
TFAM 0 1 0 0 0 1
TFG 0 1 0 0 0 1
TFR2 1 0 0 0 0 1
TGDS 0 0 1 0 0 1
THBD 0 0 1 0 0 1
THOC2 0 0 1 0 0 1
THRB 0 0 1 0 0 1
TINF2 0 0 1 0 0 1
TLR8 0 0 1 0 0 1
TM4SF20 0 0 1 0 0 1
TMEM216 0 0 1 0 0 1
TMEM240 0 0 1 0 0 1
TMEM260 0 0 1 0 0 1
TMEM53 0 1 0 0 0 1
TMEM70 1 0 0 0 0 1
TMPRSS3 1 0 0 0 0 1
TMTC3 0 0 1 0 0 1
TNFRSF11A 0 0 1 0 0 1
TNFSF11 0 0 1 0 0 1
TNNC1 0 0 1 0 0 1
TNNI2 1 0 0 0 0 1
TNNT3 0 0 1 0 0 1
TNXB 0 0 1 0 0 1
TOR1AIP1 0 1 0 0 0 1
TP53RK 0 0 1 0 0 1
TPI1 0 0 1 0 0 1
TPK1 0 0 1 0 0 1
TPM1 0 1 0 0 0 1
TPRKB 0 0 1 0 0 1
TPRN 1 0 0 0 0 1
TRAF3IP1 0 1 0 0 0 1
TRAPPC4 0 0 1 0 0 1
TREM2 0 1 0 0 0 1
TRIM2 0 0 1 0 0 1
TRIM37 0 0 1 0 0 1
TRIOBP 0 0 1 0 0 1
TRIP11 0 0 1 0 0 1
TRIP4 0 1 0 0 0 1
TRPC3 0 0 1 0 0 1
TRPM7 0 0 1 0 0 1
TRPV6 1 0 0 0 0 1
TSEN34 0 0 1 0 0 1
TTBK2 0 0 1 0 0 1
TTR 0 1 0 0 0 1
TUBA4A 0 0 1 0 0 1
TUBB4A 0 0 1 0 0 1
TUBG1 0 1 0 0 0 1
TUFM 0 0 1 0 0 1
TULP3 0 1 0 0 0 1
TYK2 0 0 1 0 0 1
TYMP 0 1 0 0 0 1
UBA1 0 0 1 0 0 1
UBA2 0 1 0 0 0 1
UBE3B 0 1 0 0 0 1
UBQLN2 0 0 1 0 0 1
UGDH 0 0 1 0 0 1
UQCRH 0 0 1 0 0 1
UROS 0 0 1 0 0 1
USH1C 0 0 1 0 0 1
VANGL2 0 0 1 0 0 1
VMA21 0 0 1 0 0 1
VPS16 0 0 1 0 0 1
VRK1 1 0 0 0 0 1
VSX2 0 0 1 0 0 1
WARS1 0 0 1 0 0 1
WARS2 0 0 1 0 0 1
WASF1 0 0 1 0 0 1
WBP11 1 0 0 0 0 1
WDFY3 0 0 1 0 0 1
WDPCP 0 1 0 0 0 1
WDR36 0 1 0 0 0 1
WDR4 0 1 0 0 0 1
WDR45 0 0 1 0 0 1
WDR72 0 1 0 0 0 1
WNK1 0 0 1 0 0 1
WNK4 0 0 1 0 0 1
WNT1 1 0 0 0 0 1
XPA 1 0 0 0 0 1
XPNPEP3 0 0 1 0 0 1
XPR1 0 0 1 0 0 1
XRCC4 1 0 0 0 0 1
XYLT1 0 0 1 0 0 1
YARS2 0 0 1 0 0 1
YIF1B 0 0 1 0 0 1
ZAP70 0 0 1 0 0 1
ZBTB18 0 0 1 0 0 1
ZBTB24 0 1 0 0 0 1
ZDHHC9 0 0 1 0 0 1
ZFYVE19 0 1 0 0 0 1
ZIC3 0 0 1 0 0 1
ZMIZ1 0 0 1 0 0 1
ZMPSTE24 1 0 0 0 0 1
ZNF341 0 0 1 0 0 1
ZNF407 0 0 1 0 0 1
ZNF699 0 0 1 0 0 1
ZP3 0 0 1 0 0 1
ZPR1 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 2659
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial cancer of breast 4 6 58 0 0 68
Wilson disease 19 19 19 0 0 57
Cystic fibrosis 20 14 10 0 0 44
Breast-ovarian cancer, familial, susceptibility to, 2 19 5 19 0 0 43
Breast-ovarian cancer, familial, susceptibility to, 1 23 5 14 0 0 42
Recessive dystrophic epidermolysis bullosa 8 16 14 0 0 38
Mucopolysaccharidosis, MPS-IV-A 12 10 13 0 0 35
Polycystic kidney disease 4 5 6 23 0 0 34
Ataxia-telangiectasia syndrome 5 14 14 0 0 33
Duchenne muscular dystrophy 16 13 4 0 0 33
Central core myopathy 5 3 23 0 0 31
Severe myoclonic epilepsy in infancy 8 8 15 0 0 31
Neurofibromatosis, type 1 18 12 0 0 0 30
Autosomal recessive limb-girdle muscular dystrophy type 2B 5 13 11 0 0 29
Polycystic kidney disease, adult type 3 8 18 0 0 29
Hereditary spastic paraplegia 11 9 8 11 0 0 28
Autosomal recessive limb-girdle muscular dystrophy type 2A 7 10 10 0 0 27
Developmental and epileptic encephalopathy, 11 2 4 21 0 0 27
Fanconi anemia complementation group A 8 9 10 0 0 27
Lynch syndrome 1 6 4 14 0 0 24
Hereditary spherocytosis type 1 1 12 10 0 0 23
Glycogen storage disease type III 5 9 7 0 0 21
Hereditary spherocytosis type 2 1 7 13 0 0 21
Metachromatic leukodystrophy 8 6 7 0 0 21
Niemann-Pick disease, type C1 5 10 6 0 0 21
Ullrich congenital muscular dystrophy 1A 3 7 11 0 0 21
Rett syndrome 13 2 5 0 0 20
Developmental and epileptic encephalopathy, 42 2 0 17 0 0 19
Epilepsy, familial focal, with variable foci 1 3 2 14 0 0 19
Generalized epilepsy with febrile seizures plus, type 2 4 2 12 0 0 18
Progressive familial intrahepatic cholestasis type 2 3 6 9 0 0 18
Tuberous sclerosis 2 6 8 4 0 0 18
X-linked Alport syndrome 4 10 4 0 0 18
Congenital myotonia, autosomal recessive form 6 6 5 0 0 17
Finnish congenital nephrotic syndrome 3 5 9 0 0 17
Hereditary factor VIII deficiency disease 3 8 6 0 0 17
Kabuki syndrome 1 2 3 12 0 0 17
Lynch syndrome 5 1 0 16 0 0 17
Developmental and epileptic encephalopathy, 7 6 3 7 0 0 16
Bethlem myopathy 1A 2 3 10 0 0 15
Colorectal cancer, hereditary nonpolyposis, type 2 9 1 5 0 0 15
Combined immunodeficiency due to LRBA deficiency 1 6 8 0 0 15
Galactosylceramide beta-galactosidase deficiency 4 9 2 0 0 15
Glutaric aciduria, type 1 7 1 7 0 0 15
Hereditary pancreatitis 7 0 8 0 0 15
Marfan syndrome 4 7 4 0 0 15
Nemaline myopathy 2 2 7 6 0 0 15
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 0 15 0 0 15
Pigmentary pallidal degeneration 1 6 8 0 0 15
Biotinidase deficiency 6 5 3 0 0 14
Developmental and epileptic encephalopathy, 4 3 3 8 0 0 14
Developmental delay with variable intellectual impairment and behavioral abnormalities 0 4 10 0 0 14
GNE myopathy 5 3 6 0 0 14
Muscular dystrophy, limb-girdle, autosomal recessive 23 3 6 5 0 0 14
Propionic acidemia 3 2 9 0 0 14
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 1 3 10 0 0 14
Sotos syndrome 2 7 5 0 0 14
Adrenoleukodystrophy 5 6 2 0 0 13
Beta-thalassemia HBB/LCRB 13 0 0 0 0 13
Charlevoix-Saguenay spastic ataxia 1 4 8 0 0 13
Developmental and epileptic encephalopathy, 14 1 3 9 0 0 13
Developmental and epileptic encephalopathy, 64 1 0 12 0 0 13
Glycogen storage disease, type VI 2 5 6 0 0 13
Merosin deficient congenital muscular dystrophy 2 5 6 0 0 13
VPS13A-related neurodegenerative disease 2 9 2 0 0 13
Amyotrophic lateral sclerosis type 4 0 0 12 0 0 12
Combined immunodeficiency due to DOCK8 deficiency 2 4 6 0 0 12
Developmental and epileptic encephalopathy, 2 2 3 7 0 0 12
Developmental and epileptic encephalopathy, 27 1 0 11 0 0 12
Familial adenomatous polyposis 1 3 2 7 0 0 12
Glycogen storage disease, type II 8 4 0 0 0 12
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 4 7 0 0 12
Infantile GM1 gangliosidosis 5 4 3 0 0 12
Leukoencephalopathy with vanishing white matter 1 3 3 6 0 0 12
Noonan syndrome 1 11 0 1 0 0 12
O'Donnell-Luria-Rodan syndrome 0 1 11 0 0 12
Primary ciliary dyskinesia 3 2 2 8 0 0 12
Primary ciliary dyskinesia 5 0 3 9 0 0 12
Rubinstein-Taybi syndrome due to CREBBP mutations 0 6 6 0 0 12
Autosomal recessive congenital ichthyosis 1 4 4 3 0 0 11
Autosomal recessive limb-girdle muscular dystrophy type 2E 3 6 2 0 0 11
Charcot-Marie-Tooth disease type 4C 4 5 2 0 0 11
Developmental and epileptic encephalopathy 6B 0 3 8 0 0 11
Developmental and epileptic encephalopathy 94 0 2 9 0 0 11
Developmental and epileptic encephalopathy, 18 0 4 7 0 0 11
Developmental and epileptic encephalopathy, 46 0 0 11 0 0 11
Developmental delay, impaired speech, and behavioral abnormalities 0 0 11 0 0 11
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 6 5 0 0 11
Hypercholesterolemia, familial, 1 5 3 3 0 0 11
Infantile neuroaxonal dystrophy 3 3 5 0 0 11
Intellectual disability, autosomal dominant 52 0 0 11 0 0 11
Mucopolysaccharidosis, MPS-II 3 3 5 0 0 11
Mucopolysaccharidosis, MPS-III-A 3 4 4 0 0 11
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 11 0 0 11
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0 0 11 0 0 11
Tay-Sachs disease 4 1 6 0 0 11
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 1 9 0 0 10
Alagille syndrome due to a JAG1 point mutation 1 6 3 0 0 10
Alstrom syndrome 0 7 3 0 0 10
Autosomal recessive Alport syndrome 2 4 4 0 0 10
Autosomal recessive nonsyndromic hearing loss 3 0 3 7 0 0 10
Bifunctional peroxisomal enzyme deficiency 0 4 6 0 0 10
CHARGE syndrome 3 1 6 0 0 10
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 10 0 0 10
Colorectal cancer, susceptibility to, 12 0 1 9 0 0 10
Developmental and epileptic encephalopathy, 13 0 1 9 0 0 10
Developmental and epileptic encephalopathy, 9 2 1 7 0 0 10
Developmental delay with or without dysmorphic facies and autism 0 0 10 0 0 10
Dubin-Johnson syndrome 1 6 3 0 0 10
Dyskeratosis congenita, autosomal recessive 5 1 0 9 0 0 10
Intellectual disability, autosomal dominant 13 0 2 8 0 0 10
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 2 8 0 0 10
Junctional epidermolysis bullosa gravis of Herlitz 2 8 0 0 0 10
Mowat-Wilson syndrome 0 1 9 0 0 10
Neurodegeneration with brain iron accumulation 2B 3 3 4 0 0 10
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 0 10 0 0 10
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 0 10 0 0 10
Phenylketonuria 6 4 0 0 0 10
Primary hyperoxaluria, type I 7 3 0 0 0 10
Progressive familial intrahepatic cholestasis type 3 2 3 5 0 0 10
Sandhoff disease 3 2 5 0 0 10
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 8 0 1 0 0 9
Autosomal dominant Alport syndrome 1 0 8 0 0 9
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 1 4 4 0 0 9
Congenital multicore myopathy with external ophthalmoplegia 1 1 7 0 0 9
Developmental and epileptic encephalopathy, 31A 1 1 7 0 0 9
Developmental and epileptic encephalopathy, 69 0 0 9 0 0 9
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 1 8 0 0 9
Familial hypokalemia-hypomagnesemia 3 5 1 0 0 9
Global developmental delay with speech and behavioral abnormalities 0 1 8 0 0 9
Glomerulopathy with fibronectin deposits 2 0 0 9 0 0 9
Hypertrophic cardiomyopathy 4 0 4 5 0 0 9
Intellectual developmental disorder, autosomal dominant 64 0 0 9 0 0 9
Intellectual disability, autosomal dominant 45 0 0 9 0 0 9
Junctional epidermolysis bullosa, non-Herlitz type 2 4 3 0 0 9
Koolen-de Vries syndrome 1 2 6 0 0 9
Landau-Kleffner syndrome 0 0 9 0 0 9
Microcephaly 5, primary, autosomal recessive 0 7 2 0 0 9
Neuronal ceroid lipofuscinosis 2 3 3 3 0 0 9
Primary ciliary dyskinesia 7 0 3 6 0 0 9
Severe early-childhood-onset retinal dystrophy 5 3 1 0 0 9
Thyroid dyshormonogenesis 6 3 2 4 0 0 9
Tuberous sclerosis 1 3 4 2 0 0 9
Tyrosinemia type I 3 3 3 0 0 9
3M syndrome 2 2 1 5 0 0 8
Acute intermittent porphyria 3 1 4 0 0 8
Arthrogryposis multiplex congenita 6 0 3 5 0 0 8
Asphyxiating thoracic dystrophy 3 0 4 4 0 0 8
Autosomal recessive limb-girdle muscular dystrophy type 2D 2 3 3 0 0 8
Autosomal recessive nonsyndromic hearing loss 4 3 2 3 0 0 8
Autosomal recessive spinocerebellar ataxia 14 0 1 7 0 0 8
Bartter disease type 3 2 3 3 0 0 8
Bethlem myopathy 2 0 0 8 0 0 8
Bilateral frontoparietal polymicrogyria 2 3 3 0 0 8
Breast-ovarian cancer, familial, susceptibility to, 4 3 0 5 0 0 8
Brugada syndrome 1 0 0 8 0 0 8
Charcot-Marie-Tooth disease type 2A2 2 2 4 0 0 8
Cholestasis, progressive familial intrahepatic, 4 0 5 3 0 0 8
Classic homocystinuria 1 3 4 0 0 8
Coffin-Siris syndrome 1 0 3 5 0 0 8
Congenital contractural arachnodactyly 0 0 8 0 0 8
Congenital myasthenic syndrome 8 0 0 8 0 0 8
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 5 1 2 0 0 8
Deficiency of adenosine deaminase 2 3 2 3 0 0 8
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0 0 8 0 0 8
Developmental and epileptic encephalopathy, 26 1 0 7 0 0 8
Donnai-Barrow syndrome 0 0 8 0 0 8
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 8 0 0 8
FOXG1 disorder 1 6 1 0 0 8
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 0 8 0 0 8
Intellectual disability, autosomal dominant 43 1 0 7 0 0 8
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 8 0 0 8
Lissencephaly 9 with complex brainstem malformation 0 0 8 0 0 8
Maple syrup urine disease 2 3 3 0 0 8
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 2 1 5 0 0 8
Menke-Hennekam syndrome 1 0 0 8 0 0 8
Mitochondrial complex I deficiency, nuclear type 4 2 4 2 0 0 8
Moyamoya disease 2 0 0 7 1 0 8
Nephrotic syndrome, type 2 4 4 0 0 0 8
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 0 8 0 0 8
Niemann-Pick disease, type A 1 5 2 0 0 8
Oculocutaneous albinism type 1A 3 1 4 0 0 8
Osteogenesis imperfecta type 8 2 5 1 0 0 8
Polyglandular autoimmune syndrome, type 1 1 2 5 0 0 8
Pyruvate kinase deficiency of red cells 3 3 2 0 0 8
Renal tubular dysgenesis of genetic origin 0 5 3 0 0 8
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 6 2 0 0 8
Stromme syndrome 0 6 2 0 0 8
Syndromic X-linked intellectual disability Claes-Jensen type 0 2 6 0 0 8
Usher syndrome type 2A 2 3 3 0 0 8
X-linked intellectual disability, Cantagrel type 1 0 7 0 0 8
ZTTK syndrome 0 2 6 0 0 8
Agammaglobulinemia 8, autosomal dominant 0 0 7 0 0 7
Autosomal recessive DOPA responsive dystonia 0 3 4 0 0 7
Autosomal recessive nonsyndromic hearing loss 1A 5 2 0 0 0 7
Combined oxidative phosphorylation deficiency 35 0 4 3 0 0 7
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 1 6 0 0 7
DYRK1A-related intellectual disability syndrome 3 1 3 0 0 7
Developmental and epileptic encephalopathy, 30 0 0 7 0 0 7
Developmental and epileptic encephalopathy, 66 0 0 7 0 0 7
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 1 6 0 0 7
Epidermolysis bullosa, junctional 4, intermediate 0 5 2 0 0 7
Ethylmalonic encephalopathy 2 1 4 0 0 7
Familial Mediterranean fever 1 0 6 0 0 7
Familial hemophagocytic lymphohistiocytosis 2 3 1 3 0 0 7
Febrile seizures, familial, 4 0 0 7 0 0 7
Global developmental delay with or without impaired intellectual development 0 1 6 0 0 7
Glucose-6-phosphate transport defect 3 2 2 0 0 7
Glycine encephalopathy 1 0 4 3 0 0 7
Glycogen storage disease IXc 2 1 4 0 0 7
Hereditary spastic paraplegia 35 1 3 3 0 0 7
Immunodeficiency, common variable, 10 1 0 6 0 0 7
Intellectual disability, autosomal dominant 1 0 1 6 0 0 7
Intellectual disability, autosomal dominant 5 1 1 5 0 0 7
Kleefstra syndrome 2 0 1 6 0 0 7
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 1 1 5 0 0 7
Li-Fraumeni syndrome 1 6 1 0 0 0 7
Microcephalic osteodysplastic primordial dwarfism type II 0 3 4 0 0 7
Mucolipidosis type II 4 0 3 0 0 7
Muir-Torré syndrome 2 2 3 0 0 7
Nephropathic cystinosis 3 2 2 0 0 7
Nephrotic syndrome, type 3 0 3 4 0 0 7
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 0 7 0 0 7
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 7 0 0 7
Neuronal ceroid lipofuscinosis 7 1 4 2 0 0 7
Ornithine carbamoyltransferase deficiency 0 0 7 0 0 7
Parkinson disease, late-onset 1 0 6 0 0 7
Peroxisome biogenesis disorder 4A (Zellweger) 0 5 2 0 0 7
Platelet-type bleeding disorder 10 0 6 1 0 0 7
Progressive familial intrahepatic cholestasis type 1 2 0 5 0 0 7
Renal cysts and diabetes syndrome 2 0 5 0 0 7
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 0 1 6 0 0 7
Tyrosinase-positive oculocutaneous albinism 2 3 2 0 0 7
von Willebrand disease type 2 2 1 4 0 0 7
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 4 1 1 0 0 6
3M syndrome 1 0 3 3 0 0 6
Alzheimer disease 9 0 0 6 0 0 6
Autosomal dominant Parkinson disease 8 0 0 6 0 0 6
Autosomal recessive ataxia, Beauce type 0 4 2 0 0 6
Autosomal recessive congenital ichthyosis 10 1 4 1 0 0 6
Autosomal recessive limb-girdle muscular dystrophy type 2C 0 2 4 0 0 6
Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 6 0 0 6
Brain small vessel disease 1 with or without ocular anomalies 2 1 3 0 0 6
Charcot-Marie-Tooth disease X-linked dominant 1 3 0 3 0 0 6
Charcot-Marie-Tooth disease axonal type 2T 0 2 4 0 0 6
Cobalamin C disease 3 1 2 0 0 6
Cockayne syndrome type 2 5 1 0 0 0 6
Cornelia de Lange syndrome 1 0 1 5 0 0 6
Crigler-Najjar syndrome type 1 4 0 2 0 0 6
Deficiency of acetyl-CoA acetyltransferase 3 1 2 0 0 6
Developmental and epileptic encephalopathy, 1 0 2 4 0 0 6
Developmental and epileptic encephalopathy, 5 0 1 5 0 0 6
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 2 4 0 0 6
Endometrial carcinoma 0 1 5 0 0 6
Familial hemophagocytic lymphohistiocytosis 3 1 3 2 0 0 6
Fanconi anemia complementation group I 2 1 3 0 0 6
Glanzmann thrombasthenia 2 4 1 1 0 0 6
Glycogen storage disease IXa1 0 4 2 0 0 6
Griscelli syndrome type 2 2 1 3 0 0 6
Hemolytic anemia due to glucophosphate isomerase deficiency 1 3 2 0 0 6
Hereditary factor XI deficiency disease 1 3 2 0 0 6
Hereditary spastic paraplegia 30 1 0 5 0 0 6
Hereditary spastic paraplegia 47 0 3 3 0 0 6
Hyperinsulinemic hypoglycemia, familial, 1 2 2 2 0 0 6
Hyperlipoproteinemia, type I 2 3 1 0 0 6
Hypertrophic cardiomyopathy 1 0 2 4 0 0 6
Hypertrophic cardiomyopathy 14 0 0 6 0 0 6
Hypomyelinating leukodystrophy 11 1 1 4 0 0 6
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 1 5 0 0 6
Intellectual disability, X-linked 102 1 4 1 0 0 6
Intellectual disability, autosomal dominant 9 1 0 5 0 0 6
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 0 6 0 0 6
Joubert syndrome 5 3 1 2 0 0 6
KBG syndrome 2 0 4 0 0 6
Leukocyte adhesion deficiency 1 0 5 1 0 0 6
Long QT syndrome 1 3 0 3 0 0 6
Lowe syndrome 2 4 0 0 0 6
Lynch syndrome 4 0 1 5 0 0 6
Lysinuric protein intolerance 3 1 2 0 0 6
MEGF8-related Carpenter syndrome 0 0 6 0 0 6
Menkes kinky-hair syndrome 0 0 6 0 0 6
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 2 3 0 0 6
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 1 4 1 0 0 6
Mitochondrial DNA depletion syndrome, myopathic form 1 2 3 0 0 6
Mitochondrial complex IV deficiency, nuclear type 1 5 0 1 0 0 6
Neurodevelopmental disorder with central hypotonia and dysmorphic facies 0 0 6 0 0 6
Neurodevelopmental disorder with or without seizures and gait abnormalities 0 0 6 0 0 6
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 1 5 0 0 6
Noonan syndrome 10 2 1 3 0 0 6
Noonan syndrome 4 4 0 2 0 0 6
Osteogenesis imperfecta, perinatal lethal 3 2 1 0 0 6
Renal coloboma syndrome 2 2 2 0 0 6
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 1 2 3 0 0 6
Spinocerebellar ataxia type 42 0 0 6 0 0 6
Wiskott-Aldrich syndrome 3 2 1 0 0 6
Alkaptonuria 2 1 2 0 0 5
Amyotrophic lateral sclerosis type 1 1 3 1 0 0 5
Arrhythmogenic right ventricular dysplasia 9 1 2 2 0 0 5
Arthrogryposis multiplex congenita 3, myogenic type 0 1 4 0 0 5
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 0 5 0 0 5
Autosomal recessive early-onset Parkinson disease 23 0 1 4 0 0 5
Autosomal recessive early-onset Parkinson disease 6 0 4 1 0 0 5
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 3 2 0 0 5
Autosomal recessive nonsyndromic hearing loss 18B 0 1 4 0 0 5
Autosomal recessive osteopetrosis 4 0 2 3 0 0 5
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 1 0 4 0 0 5
Bardet-Biedl syndrome 2 1 1 3 0 0 5
Beck-Fahrner syndrome 0 0 5 0 0 5
Breast-ovarian cancer, familial, susceptibility to, 3 0 0 5 0 0 5
Cardiac arrhythmia, ankyrin-B-related 0 0 5 0 0 5
Carnitine palmitoyl transferase 1A deficiency 0 0 5 0 0 5
Cerebroretinal microangiopathy with calcifications and cysts 1 0 2 3 0 0 5
Ceroid lipofuscinosis, neuronal, 6A 1 2 2 0 0 5
Charcot-Marie-Tooth disease axonal type 2S 0 0 5 0 0 5
Charcot-Marie-Tooth disease recessive intermediate C 0 1 4 0 0 5
Cholestasis, progressive familial intrahepatic, 10 0 0 5 0 0 5
Cohen syndrome 1 2 2 0 0 5
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 1 4 0 0 5
Congenital dyserythropoietic anemia, type II 0 2 3 0 0 5
Congenital microvillous atrophy 0 1 4 0 0 5
Congenital myopathy 4A, autosomal dominant 1 1 3 0 0 5
Crigler-Najjar syndrome, type II 2 1 2 0 0 5
Cystinuria 1 1 3 0 0 5
Developmental and epileptic encephalopathy, 23 0 2 3 0 0 5
Developmental and epileptic encephalopathy, 36 1 0 4 0 0 5
Developmental and epileptic encephalopathy, 62 0 1 4 0 0 5
Developmental and epileptic encephalopathy, 67 0 0 5 0 0 5
Developmental delay with autism spectrum disorder and gait instability 0 0 5 0 0 5
Developmental delay with variable neurologic and brain abnormalities 0 0 5 0 0 5
Dilated cardiomyopathy 1JJ 0 0 5 0 0 5
Dilated cardiomyopathy 1S 0 2 3 0 0 5
Dyskeratosis congenita, autosomal dominant 2 1 0 4 0 0 5
Early-onset myopathy with fatal cardiomyopathy 0 0 4 1 0 5
Ellis-van Creveld syndrome 2 3 0 0 0 5
Epidermolysis bullosa pruriginosa 3 0 2 0 0 5
Exostoses, multiple, type 1 3 1 1 0 0 5
FG syndrome 4 0 0 5 0 0 5
Familial idiopathic hypercalciuria 0 0 5 0 0 5
Familial juvenile hyperuricemic nephropathy type 1 0 0 5 0 0 5
Familial temporal lobe epilepsy 5 0 0 5 0 0 5
Focal segmental glomerulosclerosis 2 0 2 3 0 0 5
GNPTG-mucolipidosis 1 1 3 0 0 5
Generalized epilepsy-paroxysmal dyskinesia syndrome 0 0 5 0 0 5
Gilbert syndrome 1 3 0 1 0 5
Glanzmann thrombasthenia 1 3 1 1 0 0 5
Glycogen storage disease IXb 1 3 1 0 0 5
Hereditary insensitivity to pain with anhidrosis 1 3 1 0 0 5
Hereditary spastic paraplegia 4 2 1 2 0 0 5
Hereditary spastic paraplegia 7 2 1 2 0 0 5
Hereditary spastic paraplegia 8 0 0 5 0 0 5
Hurler syndrome 1 2 2 0 0 5
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 1 3 1 0 0 5
Hypertrophic cardiomyopathy 26 1 0 4 0 0 5
Immunodeficiency 14 0 1 4 0 0 5
Immunodeficiency 36 with lymphoproliferation 0 0 5 0 0 5
Immunodeficiency, common variable, 12 0 1 4 0 0 5
Immunoglobulin-mediated membranoproliferative glomerulonephritis 0 1 4 0 0 5
Intellectual developmental disorder 61 0 0 5 0 0 5
Intellectual developmental disorder with seizures and language delay 0 1 4 0 0 5
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 0 0 5 0 0 5
Intellectual disability, autosomal dominant 3 0 0 5 0 0 5
Intellectual disability, autosomal dominant 54 0 1 4 0 0 5
Isovaleryl-CoA dehydrogenase deficiency 1 2 2 0 0 5
Joubert syndrome 17 2 1 2 0 0 5
Kleefstra syndrome 1 0 1 4 0 0 5
Larsen syndrome 0 0 5 0 0 5
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2 1 2 0 0 5
Li-Ghorbani-Weisz-Hubshman syndrome 0 0 5 0 0 5
MEHMO syndrome 0 0 5 0 0 5
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 1 0 4 0 0 5
Maple syrup urine disease type 1A 2 2 1 0 0 5
Medium-chain acyl-coenzyme A dehydrogenase deficiency 3 0 2 0 0 5
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 0 5 0 0 5
Mitochondrial complex I deficiency, nuclear type 5 0 0 5 0 0 5
Miyoshi muscular dystrophy 1 1 3 1 0 0 5
Mucopolysaccharidosis type 6 2 1 2 0 0 5
Multiple acyl-CoA dehydrogenase deficiency 3 0 2 0 0 5
Multiple mitochondrial dysfunctions syndrome 3 0 1 4 0 0 5
Myofibrillar myopathy 6 2 0 3 0 0 5
Nephronophthisis 4 0 2 3 0 0 5
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 0 1 4 0 0 5
Neuronal ceroid lipofuscinosis 5 0 3 2 0 0 5
Niemann-Pick disease, type B 3 1 1 0 0 5
Noonan syndrome 2 2 2 1 0 0 5
Osteogenesis imperfecta type I 2 2 1 0 0 5
Parkinsonism with polyneuropathy 0 0 5 0 0 5
Peutz-Jeghers syndrome 0 1 4 0 0 5
Pierson syndrome 0 4 1 0 0 5
Pontocerebellar hypoplasia type 3 0 0 5 0 0 5
Progressive pseudorheumatoid dysplasia 2 3 0 0 0 5
Pyruvate dehydrogenase E1-alpha deficiency 1 1 3 0 0 5
Renal tubular acidosis with progressive nerve deafness 0 3 2 0 0 5
Retinitis pigmentosa 39 0 2 3 0 0 5
Schwartz-Jampel syndrome type 1 0 0 5 0 0 5
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2 2 1 0 0 5
Short stature-optic atrophy-Pelger-Huët anomaly syndrome 0 1 4 0 0 5
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 0 5 0 0 5
Spinocerebellar ataxia type 5 0 0 5 0 0 5
Succinate-semialdehyde dehydrogenase deficiency 0 3 2 0 0 5
Thrombocythemia 3 0 0 5 0 0 5
Type 2 diabetes mellitus 0 0 5 0 0 5
Usher syndrome type 1 3 1 1 0 0 5
Van Maldergem syndrome 1 0 0 5 0 0 5
Vitamin D-dependent rickets, type 1A 1 4 0 0 0 5
Weiss-Kruszka syndrome 0 1 4 0 0 5
Wiedemann-Steiner syndrome 0 2 3 0 0 5
X-linked agammaglobulinemia 1 2 2 0 0 5
Abortive cerebellar ataxia 1 1 2 0 0 4
Achromatopsia 2 2 2 0 0 0 4
Alexander disease 1 1 2 0 0 4
Anemia, congenital dyserythropoietic, type 1a 1 1 2 0 0 4
Angelman syndrome 1 2 1 0 0 4
Ataxia-pancytopenia syndrome 0 0 4 0 0 4
Ataxia-telangiectasia-like disorder 1 1 0 3 0 0 4
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 2 1 1 0 0 4
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 0 4 0 0 4
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 0 0 4 0 0 4
Autosomal recessive congenital ichthyosis 4A 1 1 2 0 0 4
Autosomal recessive distal spinal muscular atrophy 1 1 2 1 0 0 4
Autosomal recessive hypophosphatemic bone disease 0 1 3 0 0 4
Autosomal recessive nonsyndromic hearing loss 12 0 0 4 0 0 4
Autosomal recessive osteopetrosis 1 1 1 2 0 0 4
Autosomal recessive spastic paraplegia type 78 0 0 4 0 0 4
Bartter disease type 2 2 0 2 0 0 4
Becker muscular dystrophy 1 0 3 0 0 4
Blau syndrome 1 0 3 0 0 4
Bloom syndrome 2 1 1 0 0 4
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 4 0 0 4
Charcot-Marie-Tooth disease axonal type 2P 1 1 2 0 0 4
Charcot-Marie-Tooth disease axonal type 2X 1 1 2 0 0 4
Charcot-Marie-Tooth disease dominant intermediate B 1 0 3 0 0 4
Chilton-Okur-Chung neurodevelopmental syndrome 0 0 4 0 0 4
Cholestanol storage disease 4 0 0 0 0 4
Chédiak-Higashi syndrome 0 2 2 0 0 4
Ciliary dyskinesia, primary, 40 0 1 3 0 0 4
Citrullinemia type I 2 1 1 0 0 4
Clark-Baraitser syndrome 0 0 4 0 0 4
Combined oxidative phosphorylation deficiency 55 0 2 2 0 0 4
Complex cortical dysplasia with other brain malformations 2 1 0 3 0 0 4
Congenital bile acid synthesis defect 2 0 3 1 0 0 4
Congenital factor VII deficiency 0 1 3 0 0 4
Congenital generalized lipodystrophy type 1 1 3 0 0 0 4
Congenital lipoid adrenal hyperplasia due to STAR deficency 2 1 1 0 0 4
Cortical dysplasia, complex, with other brain malformations 10 0 0 4 0 0 4
Cowden syndrome 1 3 0 1 0 0 4
Deficiency of alpha-mannosidase 0 1 3 0 0 4
Deficiency of cytochrome-b5 reductase 1 1 2 0 0 4
Delpire-McNeill syndrome 0 0 4 0 0 4
Desmin-related myofibrillar myopathy 2 1 1 0 0 4
Developmental and epileptic encephalopathy 98 0 0 4 0 0 4
Developmental and epileptic encephalopathy, 12 0 0 4 0 0 4
Developmental and epileptic encephalopathy, 24 0 0 4 0 0 4
Developmental and epileptic encephalopathy, 29 0 0 4 0 0 4
Developmental and epileptic encephalopathy, 41 0 0 4 0 0 4
Diamond-Blackfan anemia 1 1 1 2 0 0 4
Dystonia 28, childhood-onset 0 0 4 0 0 4
EAST syndrome 0 1 3 0 0 4
Ehlers-Danlos syndrome, classic type, 1 0 1 3 0 0 4
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 1 3 0 0 4
Elliptocytosis 2 1 0 3 0 0 4
Epidermolysis bullosa simplex with nail dystrophy 0 1 3 0 0 4
Epilepsy, early-onset, with or without developmental delay 0 0 4 0 0 4
Epilepsy, familial focal, with variable foci 2 0 0 4 0 0 4
Epilepsy, familial focal, with variable foci 4 0 0 4 0 0 4
Episodic ataxia type 2 0 0 4 0 0 4
Familial adenomatous polyposis 2 2 0 2 0 0 4
Familial cold autoinflammatory syndrome 2 0 0 4 0 0 4
Familial hemophagocytic lymphohistiocytosis 5 1 2 1 0 0 4
Fanconi anemia complementation group G 0 4 0 0 0 4
Fanconi anemia complementation group L 3 1 0 0 0 4
Focal segmental glomerulosclerosis 8 0 0 4 0 0 4
Fraser syndrome 2 0 1 3 0 0 4
GM1 gangliosidosis type 2 3 0 1 0 0 4
Galloway-Mowat syndrome 1 0 1 3 0 0 4
Generalized dominant dystrophic epidermolysis bullosa 2 0 2 0 0 4
Glycogen storage disease, type IV 0 0 4 0 0 4
Glycogen storage disorder due to hepatic glycogen synthase deficiency 2 1 1 0 0 4
Hearing loss, autosomal dominant 83 0 0 4 0 0 4
Hemochromatosis type 1 2 1 1 0 0 4
Hemolytic uremic syndrome, atypical, susceptibility to, 1 1 1 2 0 0 4
Hereditary spastic paraplegia 15 1 2 1 0 0 4
Hereditary spastic paraplegia 43 0 1 3 0 0 4
Hereditary spastic paraplegia 48 0 1 3 0 0 4
Hermansky-Pudlak syndrome 1 0 0 4 0 0 4
Hydrocephalus, nonsyndromic, autosomal recessive 2 0 2 2 0 0 4
Hypercalcemia, infantile, 2 0 2 2 0 0 4
Hyperekplexia 1 1 0 3 0 0 4
Hyperinsulinism-hyperammonemia syndrome 2 0 2 0 0 4
Hyperphosphatasia with intellectual disability syndrome 3 0 1 3 0 0 4
Hypoparathyroidism, deafness, renal disease syndrome 0 1 3 0 0 4
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 2 1 0 0 4
Hypotrichosis 8 2 2 0 0 0 4
Ichthyosis vulgaris 1 3 0 0 0 4
Intellectual developmental disorder with autism and macrocephaly 0 0 4 0 0 4
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 0 4 0 0 4
Intellectual developmental disorder, autosomal dominant 65 0 0 4 0 0 4
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 0 1 3 0 0 4
Intellectual disability, X-linked 49 0 0 4 0 0 4
Intellectual disability, X-linked 99, syndromic, female-restricted 0 1 3 0 0 4
Intellectual disability, X-linked, syndromic 33 0 0 4 0 0 4
Intellectual disability, autosomal dominant 39 0 1 3 0 0 4
Intellectual disability, autosomal dominant 40 0 0 4 0 0 4
Intellectual disability, autosomal dominant 46 0 0 4 0 0 4
Intellectual disability, autosomal recessive 53 1 1 2 0 0 4
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 3 0 0 4
Intestinal hypomagnesemia 1 0 1 3 0 0 4
Joubert syndrome 3 0 0 4 0 0 4
Joubert syndrome 37 0 2 2 0 0 4
Kabuki syndrome 2 0 0 4 0 0 4
L-2-hydroxyglutaric aciduria 1 1 2 0 0 4
Left ventricular noncompaction 1 0 0 4 0 0 4
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 0 1 3 0 0 4
Lissencephaly type 1 due to doublecortin gene mutation 1 0 3 0 0 4
Long QT syndrome 8 0 0 4 0 0 4
Meckel syndrome, type 4 2 1 1 0 0 4
Meckel syndrome, type 6 1 0 3 0 0 4
Megaconial type congenital muscular dystrophy 0 2 2 0 0 4
Microcephaly 17, primary, autosomal recessive 0 1 3 0 0 4
Microcephaly, seizures, and developmental delay 0 2 2 0 0 4
Migraine, familial hemiplegic, 1 0 0 4 0 0 4
Mitochondrial complex III deficiency nuclear type 2 0 0 4 0 0 4
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 1 1 2 0 0 4
Mucopolysaccharidosis, MPS-I-H/S 1 3 0 0 0 4
Mucopolysaccharidosis, MPS-III-B 1 1 2 0 0 4
Multiple mitochondrial dysfunctions syndrome 2 1 0 3 0 0 4
Multiple mitochondrial dysfunctions syndrome 6 0 1 3 0 0 4
Muscular dystrophy-dystroglycanopathy type B6 0 1 3 0 0 4
Myoclonus, intractable, neonatal 0 1 3 0 0 4
Myopathy, myofibrillar, 9, with early respiratory failure 2 0 2 0 0 4
Myosin storage myopathy 0 1 3 0 0 4
Nemaline myopathy 8 0 3 1 0 0 4
Nephrotic syndrome, type 12 0 0 4 0 0 4
Nephrotic syndrome, type 4 2 0 2 0 0 4
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 0 1 3 0 0 4
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0 1 3 0 0 4
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 1 3 0 0 4
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 1 3 0 0 4
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 1 0 3 0 0 4
Neurodevelopmental disorder with severe motor impairment and absent language 0 0 4 0 0 4
Neurodevelopmental disorder with speech impairment and with or without seizures 0 0 4 0 0 4
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 0 1 3 0 0 4
Neurofibromatosis-Noonan syndrome 3 0 1 0 0 4
Noonan syndrome 5 1 0 3 0 0 4
Oculocutaneous albinism type 1B 4 0 0 0 0 4
Orofaciodigital syndrome type 14 0 1 3 0 0 4
Pachyonychia congenita 3 0 2 2 0 0 4
Parenti-mignot neurodevelopmental syndrome 0 0 4 0 0 4
Paroxysmal nonkinesigenic dyskinesia 1 0 0 4 0 0 4
Periventricular nodular heterotopia 9 0 0 4 0 0 4
Peroxisome biogenesis disorder 4B 0 1 3 0 0 4
Platelet-type bleeding disorder 16 0 1 3 0 0 4
Pontocerebellar hypoplasia type 6 0 1 3 0 0 4
Premature ovarian failure 15 0 0 4 0 0 4
Primary ciliary dyskinesia 29 3 1 0 0 0 4
Primary hyperoxaluria, type II 2 0 2 0 0 4
Pyridoxal phosphate-responsive seizures 3 0 1 0 0 4
Pyridoxine-dependent epilepsy 1 2 1 0 0 4
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 1 2 1 0 0 4
Renal carnitine transport defect 2 1 1 0 0 4
Renal tubular acidosis, distal, 4, with hemolytic anemia 1 0 3 0 0 4
Renal-hepatic-pancreatic dysplasia 2 0 0 4 0 0 4
Retinitis pigmentosa 1 0 1 3 0 0 4
Retinitis pigmentosa 20 1 1 2 0 0 4
Seizures, benign familial infantile, 2 3 0 1 0 0 4
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 2 2 0 0 4
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 0 1 3 0 0 4
Short-rib thoracic dysplasia 6 with or without polydactyly 0 3 1 0 0 4
Shwachman-Diamond syndrome 1 2 1 1 0 0 4
Sitosterolemia 1 1 2 1 0 0 4
Spondyloenchondrodysplasia with immune dysregulation 0 1 3 0 0 4
Spondyloepimetaphyseal dysplasia, aggrecan type 0 0 4 0 0 4
Spongy degeneration of central nervous system 3 1 0 0 0 4
Stickler syndrome type 1 1 0 3 0 0 4
Syndromic X-linked intellectual disability Najm type 0 1 3 0 0 4
TELO2-related intellectual disability-neurodevelopmental disorder 0 2 2 0 0 4
Telangiectasia, hereditary hemorrhagic, type 1 1 2 1 0 0 4
Tolchin-Le Caignec syndrome 0 1 3 0 0 4
Townes-Brocks syndrome 1 0 0 4 0 0 4
Tremor, hereditary essential, 5 0 0 4 0 0 4
Vici syndrome 0 1 3 0 0 4
Vissers-Bodmer syndrome 0 0 4 0 0 4
X-linked intellectual disability with marfanoid habitus 0 1 3 0 0 4
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 1 3 0 0 4
Xanthinuria type II 1 3 0 0 0 4
Xeroderma pigmentosum, group G 1 2 1 0 0 4
von Willebrand disease type 1 0 0 4 0 0 4
3 beta-Hydroxysteroid dehydrogenase deficiency 0 1 2 0 0 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 0 0 3 0 0 3
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 0 3 0 0 3
3-methylglutaconic aciduria, type VIIA 0 0 3 0 0 3
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 1 2 0 0 3
ALG3-congenital disorder of glycosylation 0 2 1 0 0 3
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 0 2 1 0 0 3
Acyl-CoA oxidase deficiency 0 0 3 0 0 3
Adams-Oliver syndrome 1 0 0 3 0 0 3
Adenylosuccinate lyase deficiency 2 0 1 0 0 3
Aicardi-Goutieres syndrome 2 1 1 1 0 0 3
Aicardi-Goutieres syndrome 6 1 0 2 0 0 3
Alagille syndrome due to a NOTCH2 point mutation 0 0 3 0 0 3
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 3 0 0 3
Allan-Herndon-Dudley syndrome 1 1 1 0 0 3
Alternating hemiplegia of childhood 2 2 0 1 0 0 3
Alzheimer disease type 1 1 0 2 0 0 3
Amyotrophic lateral sclerosis type 6 2 0 1 0 0 3
Arthrogryposis multiplex congenita 5 0 3 0 0 0 3
Arthrogryposis, distal, with impaired proprioception and touch 0 3 0 0 0 3
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 1 0 2 0 0 3
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 2 1 0 0 0 3
Atrial fibrillation, familial, 7 0 0 3 0 0 3
Autism, susceptibility to, X-linked 3 1 0 2 0 0 3
Autoimmune lymphoproliferative syndrome type 2A 0 0 3 0 0 3
Autosomal dominant nocturnal frontal lobe epilepsy 5 0 1 2 0 0 3
Autosomal dominant nonsyndromic hearing loss 56 0 0 3 0 0 3
Autosomal recessive ataxia due to ubiquinone deficiency 1 1 1 0 0 3
Autosomal recessive congenital ichthyosis 5 0 0 3 0 0 3
Autosomal recessive inherited pseudoxanthoma elasticum 0 3 0 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2L 0 3 0 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2M 0 1 2 0 0 3
Autosomal recessive nonsyndromic hearing loss 2 0 2 1 0 0 3
Autosomal recessive nonsyndromic hearing loss 30 0 3 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 9 0 2 1 0 0 3
Autosomal recessive spinocerebellar ataxia 16 0 0 3 0 0 3
Autosomal recessive spinocerebellar ataxia 20 0 2 1 0 0 3
Axenfeld-Rieger syndrome type 3 1 1 1 0 0 3
Bardet-Biedl syndrome 10 1 1 1 0 0 3
Bardet-Biedl syndrome 8 1 2 0 0 0 3
Benign recurrent intrahepatic cholestasis type 2 0 1 2 0 0 3
Bone marrow failure syndrome 3 0 3 0 0 0 3
Breast-ovarian cancer, familial, susceptibility to, 5 0 0 3 0 0 3
Brown-Vialetto-van Laere syndrome 2 0 1 2 0 0 3
Brunet-Wagner neurodevelopmental syndrome 0 2 1 0 0 3
C3 glomerulonephritis 0 0 3 0 0 3
CBL-related disorder 0 0 3 0 0 3
CHEK2-related cancer predisposition 0 0 3 0 0 3
Cardiac, facial, and digital anomalies with developmental delay 0 0 3 0 0 3
Cardiomyopathy, familial hypertrophic 27 0 3 0 0 0 3
Cardiomyopathy, familial restrictive, 1 2 0 1 0 0 3
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 1 0 2 0 0 3
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 0 2 1 0 0 3
Cerebellar atrophy, visual impairment, and psychomotor retardation; 0 1 2 0 0 3
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2 0 1 0 0 3
Cerebral folate transport deficiency 0 0 2 0 1 3
Charcot-Marie-Tooth disease axonal type 2O 0 0 3 0 0 3
Charcot-Marie-Tooth disease dominant intermediate C 0 0 3 0 0 3
Charcot-Marie-Tooth disease type 4B2 0 1 2 0 0 3
Charcot-Marie-Tooth disease type 4J 0 0 3 0 0 3
Charcot-Marie-Tooth disease, type IA 1 0 2 0 0 3
Childhood apraxia of speech 0 1 2 0 0 3
Christianson syndrome 0 1 2 0 0 3
Cobblestone lissencephaly without muscular or ocular involvement 0 1 2 0 0 3
Colorectal cancer, susceptibility to, 10 0 0 3 0 0 3
Combined oxidative phosphorylation defect type 24 0 1 2 0 0 3
Complement component 6 deficiency 1 2 0 0 0 3
Complex cortical dysplasia with other brain malformations 1 0 0 3 0 0 3
Congenital adrenal hypoplasia, X-linked 0 1 2 0 0 3
Congenital afibrinogenemia 0 2 1 0 0 3
Congenital amegakaryocytic thrombocytopenia 1 0 2 1 0 0 3
Congenital anomalies of kidney and urinary tract 3 0 0 3 0 0 3
Congenital bile acid synthesis defect 1 0 2 1 0 0 3
Congenital bile acid synthesis defect 6 0 1 2 0 0 3
Congenital diarrhea 5 with tufting enteropathy 0 2 1 0 0 3
Congenital dyserythropoietic anemia type 4 1 1 1 0 0 3
Congenital hereditary endothelial dystrophy of cornea 1 1 1 0 0 3
Congenital myasthenic syndrome 10 1 1 1 0 0 3
Congenital myasthenic syndrome 4B 1 1 1 0 0 3
Congenital myotonia, autosomal dominant form 0 1 2 0 0 3
Congenital secretory diarrhea, chloride type 0 2 1 0 0 3
Congenital stationary night blindness 1B 0 3 0 0 0 3
Cortical dysplasia-focal epilepsy syndrome 0 1 2 0 0 3
Cranioectodermal dysplasia 1 0 0 3 0 0 3
Cranioectodermal dysplasia 2 0 0 3 0 0 3
Deficiency of aromatic-L-amino-acid decarboxylase 1 2 0 0 0 3
Deficiency of butyryl-CoA dehydrogenase 2 0 1 0 0 3
Deficiency of butyrylcholinesterase 2 1 0 0 0 3
Deficiency of steroid 17-alpha-monooxygenase 0 1 2 0 0 3
Developmental and epileptic encephalopathy 108 0 0 3 0 0 3
Developmental and epileptic encephalopathy 93 0 0 3 0 0 3
Developmental and epileptic encephalopathy 99 0 2 1 0 0 3
Developmental and epileptic encephalopathy, 16 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 3 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 32 1 0 2 0 0 3
Developmental and epileptic encephalopathy, 39 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 47 0 1 2 0 0 3
Developmental and epileptic encephalopathy, 57 1 0 2 0 0 3
Developmental and epileptic encephalopathy, 59 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 70 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 76 1 1 1 0 0 3
Developmental and epileptic encephalopathy, 79 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 85, with or without midline brain defects 0 0 3 0 0 3
Developmental delay with dysmorphic facies and dental anomalies 0 0 3 0 0 3
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 0 3 0 0 3
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 0 3 0 0 3
Diets-Jongmans syndrome 0 0 3 0 0 3
Dilated cardiomyopathy 1D 2 0 1 0 0 3
Dilated cardiomyopathy 1G 0 1 2 0 0 3
Dyggve-Melchior-Clausen syndrome 0 3 0 0 0 3
Dyskinesia with orofacial involvement, autosomal dominant 0 0 3 0 0 3
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 1 1 1 0 0 3
Ehlers-Danlos syndrome, type 4 2 0 1 0 0 3
Elliptocytosis 1 0 1 2 0 0 3
Encephalopathy due to GLUT1 deficiency 0 2 1 0 0 3
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 1 0 2 0 0 3
Epidermolysis bullosa simplex 5C, with pyloric atresia 1 0 2 0 0 3
Epilepsy with myoclonic atonic seizures 0 0 3 0 0 3
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 0 0 3 0 0 3
Factor H deficiency 0 0 3 0 0 3
Familial cold autoinflammatory syndrome 4 0 0 3 0 0 3
Familial infantile myasthenia 0 0 3 0 0 3
Familial partial lipodystrophy, Dunnigan type 2 1 0 0 0 3
Fanconi anemia complementation group C 2 1 0 0 0 3
Fanconi-Bickel syndrome 1 1 1 0 0 3
Farber lipogranulomatosis 2 0 1 0 0 3
Fleck corneal dystrophy 0 1 2 0 0 3
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 3 0 0 0 3
Fraser syndrome 1 0 1 2 0 0 3
Galloway-Mowat syndrome 2, X-linked 0 0 3 0 0 3
Gaucher disease type II 3 0 0 0 0 3
Gaze palsy, familial horizontal, with progressive scoliosis 1 1 2 0 0 0 3
Ghosal hematodiaphyseal dysplasia 1 0 2 0 0 3
Glaucoma 1, open angle, A 1 0 2 0 0 3
Glaucoma 3A 1 1 1 0 0 3
Glucocorticoid deficiency with achalasia 2 0 1 0 0 3
Glutamate pyruvate transaminase 2 deficiency 0 0 3 0 0 3
Growth delay due to insulin-like growth factor I resistance 0 0 3 0 0 3
HSD10 mitochondrial disease 0 0 3 0 0 3
Hereditary spastic paraplegia 46 0 0 3 0 0 3
Hereditary spastic paraplegia 56 0 1 2 0 0 3
Hereditary spherocytosis type 3 0 0 3 0 0 3
Hereditary xanthinuria type 1 1 2 0 0 0 3
Heyn-Sproul-Jackson syndrome 0 0 3 0 0 3
Houge-Janssens syndrome 1 0 0 3 0 0 3
Hyaline fibromatosis syndrome 1 2 0 0 0 3
Hyper-IgM syndrome type 1 1 0 2 0 0 3
Hypercholesterolemia, autosomal dominant, type B 1 0 2 0 0 3
Hyperglycinuria 0 1 2 0 0 3
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 0 1 2 0 0 3
Hypomyelinating leukodystrophy 2 0 2 1 0 0 3
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 0 3 0 0 3
Hypotonia, ataxia, and delayed development syndrome 0 1 2 0 0 3
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 1 1 1 0 0 3
Immunodeficiency 15a 0 0 3 0 0 3
Immunodeficiency 23 0 1 2 0 0 3
Immunodeficiency 47 0 0 3 0 0 3
Immunodeficiency 83, susceptibility to viral infections 0 0 3 0 0 3
Immunodeficiency, common variable, 14 0 0 3 0 0 3
Immunodeficiency, common variable, 3 0 0 3 0 0 3
Immunodeficiency, common variable, 7 0 0 3 0 0 3
Immunodeficiency, developmental delay, and hypohomocysteinemia 0 0 3 0 0 3
Infantile-onset ascending hereditary spastic paralysis 0 1 2 0 0 3
Inflammatory bowel disease 28 0 1 2 0 0 3
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 1 0 2 0 0 3
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 0 3 0 0 3
Intellectual disability, X-linked 1 1 1 1 0 0 3
Intellectual disability, X-linked syndromic, Turner type 0 0 3 0 0 3
Intellectual disability, autosomal dominant 24 0 0 3 0 0 3
Intellectual disability, autosomal dominant 29 0 0 3 0 0 3
Intellectual disability, autosomal dominant 55, with seizures 1 0 2 0 0 3
Intellectual disability, autosomal recessive 13 0 0 3 0 0 3
Intellectual disability, autosomal recessive 42 1 1 1 0 0 3
Intellectual disability, autosomal recessive 5 0 2 1 0 0 3
Intellectual disability-epilepsy-extrapyramidal syndrome 0 1 2 0 0 3
Joubert syndrome 21 0 1 2 0 0 3
Joubert syndrome 23 0 2 1 0 0 3
Junctional epidermolysis bullosa with pyloric atresia 1 0 2 0 0 3
KINSSHIP syndrome 0 0 3 0 0 3
Kindler syndrome 1 1 1 0 0 3
Knobloch syndrome 1 0 1 2 0 0 3
LAMB2-related infantile-onset nephrotic syndrome 0 1 2 0 0 3
LEOPARD syndrome 1 3 0 0 0 0 3
Lafora disease 0 1 2 0 0 3
Leber congenital amaurosis 1 0 2 1 0 0 3
Leber congenital amaurosis 2 1 1 1 0 0 3
Left ventricular noncompaction 10 1 0 2 0 0 3
Lethal Kniest-like syndrome 0 1 2 0 0 3
Leukocyte adhesion deficiency 3 0 3 0 0 0 3
Leukodystrophy, hypomyelinating, 16 0 0 3 0 0 3
Leukodystrophy, hypomyelinating, 18 1 1 1 0 0 3
Leukoencephalopathy, diffuse hereditary, with spheroids 1 0 0 3 0 0 3
Lissencephaly 10 0 0 3 0 0 3
Loeys-Dietz syndrome 4 0 0 3 0 0 3
Long QT syndrome 3 0 0 3 0 0 3
Lucey-Driscoll syndrome 1 1 1 0 0 3
Lymphatic malformation 6 1 2 0 0 0 3
Lysosomal acid lipase deficiency 0 1 2 0 0 3
Macular corneal dystrophy 0 1 2 0 0 3
Meckel syndrome, type 3 1 1 1 0 0 3
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 1 0 2 0 0 3
Methylmalonic acidemia with homocystinuria, type cblJ 0 1 2 0 0 3
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 3 0 0 0 3
Mitochondrial complex I deficiency, nuclear type 17 1 2 0 0 0 3
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 1 2 0 0 0 3
Mucopolysaccharidosis, MPS-I-S 1 2 0 0 0 3
Mullegama-Klein-Martinez syndrome 0 1 2 0 0 3
Multicentric osteolysis, nodulosis, and arthropathy 1 0 2 0 0 3
Multiple congenital anomalies-hypotonia-seizures syndrome 3 0 2 1 0 0 3
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked 0 0 3 0 0 3
Multiple epiphyseal dysplasia type 1 1 2 0 0 0 3
Multiple sulfatase deficiency 1 0 2 0 0 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 1 0 2 0 0 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 1 1 1 0 0 3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 0 0 3 0 0 3
Myoclonic epilepsy of Lafora 1 0 1 2 0 0 3
Myopathy, centronuclear, 5 0 0 3 0 0 3
Myopathy, proximal, and ophthalmoplegia 0 0 3 0 0 3
NAD(P)HX dehydratase deficiency 1 1 1 0 0 3
Nephrolithiasis susceptibility caused by SLC26A1 0 0 3 0 0 3
Nephronophthisis 14 0 0 3 0 0 3
Netherton syndrome 2 0 1 0 0 3
Neurodegeneration with brain iron accumulation 5 0 1 2 0 0 3
Neurodegeneration with brain iron accumulation 6 0 1 2 0 0 3
Neurodegeneration, childhood-onset, with cerebellar atrophy 0 0 3 0 0 3
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 0 0 3 0 0 3
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 0 1 2 0 0 3
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 0 3 0 0 3
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism 0 2 1 0 0 3
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 0 0 3 0 0 3
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 0 0 3 0 0 3
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 0 3 0 0 3
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 0 3 0 0 3
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 1 1 1 0 0 3
Neurodevelopmental disorder with poor language and loss of hand skills 0 0 3 0 0 3
Neurodevelopmental disorder with visual defects and brain anomalies 0 1 2 0 0 3
Neuropathy, hereditary motor and sensory, type 6A 1 0 2 0 0 3
Niemann-Pick disease, type C2 0 3 0 0 0 3
Nizon-Isidor syndrome 0 0 3 0 0 3
Oculocutaneous albinism type 4 0 1 2 0 0 3
Osteogenesis imperfecta type 11 0 3 0 0 0 3
Osteogenesis imperfecta with normal sclerae, dominant form 1 1 1 0 0 3
Osteoporosis with pseudoglioma 0 1 2 0 0 3
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 1 2 0 0 3
Paramyotonia congenita of Von Eulenburg 0 0 3 0 0 3
Parkinson disease 18, autosomal dominant, susceptibility to 0 0 3 0 0 3
Partial androgen insensitivity syndrome 1 1 1 0 0 3
Pelizaeus-Merzbacher disease 0 0 3 0 0 3
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 0 3 0 0 3
Peroxisome biogenesis disorder 12A (Zellweger) 0 0 3 0 0 3
Platelet-type bleeding disorder 20 0 0 3 0 0 3
Polycystic kidney disease 2 2 0 1 0 0 3
Primary ciliary dyskinesia 14 0 2 1 0 0 3
Primary familial polycythemia due to EPO receptor mutation 0 0 3 0 0 3
Primary hyperoxaluria type 3 1 1 1 0 0 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 0 1 2 0 0 3
Progressive familial heart block type IB 0 0 3 0 0 3
Prolidase deficiency 1 2 0 0 0 3
Pseudo-Hurler polydystrophy 2 0 1 0 0 3
Pseudo-TORCH syndrome 1 0 1 2 0 0 3
Pyknodysostosis 2 0 1 0 0 3
Radio-Tartaglia syndrome 0 0 3 0 0 3
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 0 0 3 0 0 3
Renal hypomagnesemia 5 with ocular involvement 1 1 1 0 0 3
Renal-hepatic-pancreatic dysplasia 1 0 1 2 0 0 3
Retinitis pigmentosa 19 3 0 0 0 0 3
Retinitis pigmentosa 44 0 0 3 0 0 3
Rheumatoid arthritis 0 0 3 0 0 3
Saldino-Mainzer syndrome 0 1 2 0 0 3
Schaaf-Yang syndrome 1 0 2 0 0 3
Senior-Loken syndrome 5 0 0 3 0 0 3
Severe combined immunodeficiency due to CARMIL2 deficiency 1 1 1 0 0 3
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 0 0 3 0 0 3
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 0 0 3 0 0 3
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 1 2 0 0 3
Shukla-Vernon syndrome 0 0 3 0 0 3
Sialic acid storage disease, severe infantile type 1 1 1 0 0 3
Sjögren-Larsson syndrome 1 2 0 0 0 3
Snijders Blok-Campeau syndrome 0 0 3 0 0 3
Spastic ataxia 5 0 1 2 0 0 3
Spastic paraplegia, intellectual disability, nystagmus, and obesity 1 1 1 0 0 3
Spastic paraplegia-severe developmental delay-epilepsy syndrome 1 0 2 0 0 3
Spinocerebellar ataxia type 13 1 0 2 0 0 3
Spinocerebellar ataxia type 15/16 0 0 3 0 0 3
Spinocerebellar ataxia type 35 0 0 3 0 0 3
Spinocerebellar ataxia type 40 0 0 3 0 0 3
Sponastrime dysplasia 0 1 2 0 0 3
Spondylocostal dysostosis 5 0 0 3 0 0 3
Spondyloepimetaphyseal dysplasia with multiple dislocations 1 0 2 0 0 3
Spondyloepiphyseal dysplasia with congenital joint dislocations 0 1 2 0 0 3
Stickler syndrome, type I, nonsyndromic ocular 1 1 1 0 0 3
Succinyl-CoA acetoacetate transferase deficiency 0 1 2 0 0 3
Sucrase-isomaltase deficiency 0 2 1 0 0 3
Sulfite oxidase deficiency 0 0 3 0 0 3
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 1 1 1 0 0 3
Thrombophilia due to activated protein C resistance 0 0 3 0 0 3
Thrombophilia due to thrombin defect 1 0 2 0 0 3
Transient infantile hypertriglyceridemia and hepatosteatosis 0 1 2 0 0 3
Trichohepatoenteric syndrome 1 0 3 0 0 0 3
Trichorhinophalangeal dysplasia type I 0 1 2 0 0 3
Upshaw-Schulman syndrome 0 1 2 0 0 3
Usher syndrome type 2C 1 0 2 0 0 3
Vitamin D-dependent rickets type II with alopecia 1 0 2 0 0 3
Warburg micro syndrome 1 0 3 0 0 0 3
Warburg micro syndrome 2 0 0 3 0 0 3
Weill-Marchesani syndrome 1 0 0 3 0 0 3
Wieacker-Wolff syndrome, female-restricted 0 0 3 0 0 3
Wolfram syndrome 1 1 0 2 0 0 3
X-linked intellectual disability Cabezas type 0 1 2 0 0 3
X-linked intellectual disability-psychosis-macroorchidism syndrome 1 0 2 0 0 3
X-linked lymphoproliferative disease due to XIAP deficiency 0 2 1 0 0 3
Yunis-Varon syndrome 0 1 2 0 0 3
beta Thalassemia 1 2 0 0 0 3
von Willebrand disease type 3 0 1 2 0 0 3
3-hydroxyisobutyryl-CoA hydrolase deficiency 0 1 1 0 0 2
3-methylcrotonyl-CoA carboxylase 2 deficiency 0 2 0 0 0 2
3MC syndrome 2 0 0 2 0 0 2
46,XY sex reversal 7 0 0 2 0 0 2
8q24.3 microdeletion syndrome 0 1 1 0 0 2
ALG1-congenital disorder of glycosylation 0 1 1 0 0 2
Abdominal obesity-metabolic syndrome 4 1 0 1 0 0 2
Abetalipoproteinaemia 0 2 0 0 0 2
Achondroplasia 2 0 0 0 0 2
Acrocephalosyndactyly type I 2 0 0 0 0 2
Acroerythrokeratoderma 1 0 1 0 0 2
Acromesomelic dysplasia 1, Maroteaux type 0 0 2 0 0 2
Actin accumulation myopathy 0 0 2 0 0 2
Action myoclonus-renal failure syndrome 0 1 1 0 0 2
Acute myeloid leukemia 1 0 1 0 0 2
Aicardi-Goutieres syndrome 3 1 1 0 0 0 2
Aicardi-Goutieres syndrome 4 0 1 1 0 0 2
Aicardi-Goutieres syndrome 7 0 0 2 0 0 2
Alzheimer disease 3 0 1 1 0 0 2
Amelocerebrohypohidrotic syndrome 1 1 0 0 0 2
Aminoacylase 1 deficiency 0 0 2 0 0 2
Amyotrophic lateral sclerosis-parkinsonism-dementia complex 0 0 2 0 0 2
Androgen resistance syndrome 0 0 2 0 0 2
Anophthalmia/microphthalmia-esophageal atresia syndrome 0 0 2 0 0 2
Anterior segment dysgenesis 6 1 0 1 0 0 2
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 0 0 2 0 0 2
Arginase deficiency 0 0 2 0 0 2
Argininosuccinate lyase deficiency 1 1 0 0 0 2
Arrhythmogenic right ventricular dysplasia 13 0 0 2 0 0 2
Arrhythmogenic right ventricular dysplasia 5 1 0 1 0 0 2
Arrhythmogenic right ventricular dysplasia 8 0 0 2 0 0 2
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 1 1 0 0 2
Atrial conduction disease 0 1 1 0 0 2
Atypical glycine encephalopathy 0 0 2 0 0 2
Auditory neuropathy-optic atrophy syndrome 0 1 1 0 0 2
Autism spectrum disorder due to AUTS2 deficiency 0 1 1 0 0 2
Autoimmune interstitial lung disease-arthritis syndrome 0 0 2 0 0 2
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 0 1 1 0 0 2
Autoimmune lymphoproliferative syndrome type 1 0 0 2 0 0 2
Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive 0 0 2 0 0 2
Autoinflammatory syndrome, familial, Behcet-like 1 0 0 2 0 0 2
Autosomal dominant Robinow syndrome 1 0 1 1 0 0 2
Autosomal dominant aplasia and myelodysplasia 0 0 2 0 0 2
Autosomal dominant centronuclear myopathy 1 0 1 0 0 2
Autosomal dominant cerebellar ataxia, deafness and narcolepsy 0 0 2 0 0 2
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 0 0 2 0 0 2
Autosomal dominant distal renal tubular acidosis 1 0 1 0 0 2
Autosomal dominant hypocalcemia 1 0 1 1 0 0 2
Autosomal dominant limb-girdle muscular dystrophy type 1F 0 1 1 0 0 2
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 1 0 1 0 0 2
Autosomal dominant nocturnal frontal lobe epilepsy 3 0 0 2 0 0 2
Autosomal dominant nonsyndromic hearing loss 11 0 0 2 0 0 2
Autosomal dominant nonsyndromic hearing loss 2A 0 0 2 0 0 2
Autosomal dominant nonsyndromic hearing loss 4A 0 0 2 0 0 2
Autosomal dominant osteopetrosis 2 0 1 1 0 0 2
Autosomal recessive congenital ichthyosis 4B 1 1 0 0 0 2
Autosomal recessive congenital ichthyosis 6 2 0 0 0 0 2
Autosomal recessive distal spinal muscular atrophy 2 0 0 2 0 0 2
Autosomal recessive early-onset Parkinson disease 7 0 0 2 0 0 2
Autosomal recessive juvenile Parkinson disease 2 0 0 2 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2G 1 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2O 0 0 2 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2T 1 0 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 15 0 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 22 0 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 36 0 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 6 0 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 7 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 77 1 1 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 8 1 0 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 93 1 0 1 0 0 2
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 0 0 2 0 0 2
Baller-Gerold syndrome 0 0 2 0 0 2
Bardet-Biedl syndrome 1 0 1 1 0 0 2
Bardet-Biedl syndrome 12 0 1 1 0 0 2
Bardet-Biedl syndrome 6 1 1 0 0 0 2
Bardet-Biedl syndrome 7 1 0 1 0 0 2
Bardet-Biedl syndrome 9 1 1 0 0 0 2
Bartter disease type 4A 1 0 1 0 0 2
Benign familial hematuria 0 0 2 0 0 2
Benign recurrent intrahepatic cholestasis type 1 0 1 1 0 0 2
Bernard-Soulier syndrome, type A2, autosomal dominant 0 2 0 0 0 2
Beta-D-mannosidosis 0 0 2 0 0 2
Bone marrow failure syndrome 4 0 0 2 0 0 2
Bone osteosarcoma 0 0 2 0 0 2
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 0 2 0 0 2
Branchiootorenal syndrome 1 0 0 2 0 0 2
Brown-Vialetto-van Laere syndrome 1 0 0 2 0 0 2
Bruck syndrome 2 0 1 1 0 0 2
C1Q deficiency 0 0 2 0 0 2
CCDC115-CDG 0 0 2 0 0 2
Camptomelic dysplasia 1 0 1 0 0 2
Cardiomyopathy, familial restrictive, 6 0 1 1 0 0 2
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 2 0 0 2
Catecholaminergic polymorphic ventricular tachycardia 2 1 0 1 0 0 2
Catecholaminergic polymorphic ventricular tachycardia 5 0 1 1 0 0 2
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 0 2 0 0 0 2
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 0 1 1 0 0 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0 1 1 0 0 2
Cerebellar atrophy with seizures and variable developmental delay 0 2 0 0 0 2
Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism 0 0 2 0 0 2
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 0 0 2 0 0 2
Cerebral amyloid angiopathy, APP-related 1 0 1 0 0 2
Charcot-Marie-Tooth disease axonal type 2Q 0 0 2 0 0 2
Charcot-Marie-Tooth disease axonal type 2Z 1 0 1 0 0 2
Charcot-Marie-Tooth disease dominant intermediate E 1 0 1 0 0 2
Charcot-Marie-Tooth disease recessive intermediate A 1 0 1 0 0 2
Charcot-Marie-Tooth disease type 1B 0 0 2 0 0 2
Charcot-Marie-Tooth disease type 2A1 0 0 2 0 0 2
Charcot-Marie-Tooth disease type 2I 0 0 2 0 0 2
Charcot-Marie-Tooth disease type 4A 0 2 0 0 0 2
Charcot-Marie-Tooth disease type 4B1 0 1 1 0 0 2
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 0 1 1 0 0 2
Charcot-Marie-tooth disease, axonal, type 2DD 0 0 2 0 0 2
Childhood onset GLUT1 deficiency syndrome 2 0 2 0 0 0 2
Cholestasis-pigmentary retinopathy-cleft palate syndrome 1 0 1 0 0 2
Cholesteryl ester storage disease 2 0 0 0 0 2
Chondrodysplasia punctata 2 X-linked dominant 0 0 2 0 0 2
Ciliary dyskinesia, primary, 37 0 0 2 0 0 2
Ciliary dyskinesia, primary, 44 0 0 2 0 0 2
Classic dopamine transporter deficiency syndrome 0 0 2 0 0 2
Coffin-Siris syndrome 12 0 0 2 0 0 2
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 0 2 0 0 2
Colorectal cancer 0 0 2 0 0 2
Colorectal cancer, susceptibility to, 1 0 0 2 0 0 2
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 0 0 2 0 0 2
Combined oxidative phosphorylation defect type 11 0 1 1 0 0 2
Combined oxidative phosphorylation defect type 13 0 0 2 0 0 2
Combined oxidative phosphorylation defect type 21 0 0 2 0 0 2
Combined oxidative phosphorylation defect type 23 0 2 0 0 0 2
Combined oxidative phosphorylation defect type 27 0 1 1 0 0 2
Combined oxidative phosphorylation deficiency 36 0 0 2 0 0 2
Complement component 5 deficiency 0 0 2 0 0 2
Complex cortical dysplasia with other brain malformations 3 0 0 2 0 0 2
Complex cortical dysplasia with other brain malformations 5 0 2 0 0 0 2
Cone-rod dystrophy 13 0 2 0 0 0 2
Congenital disorder of glycosylation with defective fucosylation 2 0 0 2 0 0 2
Congenital factor V deficiency 0 1 1 0 0 2
Congenital generalized lipodystrophy type 2 0 2 0 0 0 2
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 0 2 0 0 2
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0 2 0 0 0 2
Congenital muscular dystrophy due to LMNA mutation 1 0 1 0 0 2
Congenital myasthenic syndrome 12 0 1 1 0 0 2
Congenital myasthenic syndrome 19 0 1 1 0 0 2
Congenital myasthenic syndrome 1A 1 0 1 0 0 2
Congenital myasthenic syndrome 2A 0 1 1 0 0 2
Congenital myasthenic syndrome 5 0 1 1 0 0 2
Congenital myopathy 22B, severe fetal 0 0 2 0 0 2
Congenital myopathy 23 0 0 2 0 0 2
Congenital primary aphakia 0 0 2 0 0 2
Costello syndrome 1 1 0 0 0 2
Cowden syndrome 7 0 1 1 0 0 2
Craniolenticulosutural dysplasia 0 0 2 0 0 2
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 0 0 2 0 0 2
Deficiency of ferroxidase 0 1 1 0 0 2
Deficiency of guanidinoacetate methyltransferase 0 2 0 0 0 2
Deficiency of hydroxymethylglutaryl-CoA lyase 1 1 0 0 0 2
Deficiency of steroid 11-beta-monooxygenase 1 1 0 0 0 2
Deficiency of transaldolase 0 1 1 0 0 2
Dent disease type 1 0 2 0 0 0 2
Dent disease type 2 1 0 1 0 0 2
Developmental and epileptic encephalopathy 103 0 0 2 0 0 2
Developmental and epileptic encephalopathy 104 0 0 2 0 0 2
Developmental and epileptic encephalopathy 91 0 0 2 0 0 2
Developmental and epileptic encephalopathy 92 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 15 0 2 0 0 0 2
Developmental and epileptic encephalopathy, 33 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 45 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 50 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 54 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 63 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 65 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 72 1 0 1 0 0 2
Developmental and epileptic encephalopathy, 73 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 83 1 0 1 0 0 2
Developmental and epileptic encephalopathy, 87 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 90 0 0 2 0 0 2
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 0 2 0 0 2
Developmental delay, hypotonia, and impaired language 0 0 2 0 0 2
Diabetes insipidus, nephrogenic, autosomal 1 0 1 0 0 2
Diabetes mellitus, permanent neonatal 2 2 0 0 0 0 2
Diabetes mellitus, transient neonatal, 2 0 0 2 0 0 2
Diamond-Blackfan anemia 3 0 1 1 0 0 2
Dias-Logan syndrome 0 0 2 0 0 2
Dilated cardiomyopathy 1DD 0 0 2 0 0 2
Dilated cardiomyopathy 1E 0 0 2 0 0 2
Dilated cardiomyopathy 1O 0 0 2 0 0 2
Dilated cardiomyopathy 2A 1 1 0 0 0 2
Distal arthrogryposis type 5D 0 1 1 0 0 2
Dopa-responsive dystonia due to sepiapterin reductase deficiency 0 1 1 0 0 2
Drash syndrome 1 1 0 0 0 2
Dyskeratosis congenita, X-linked 0 0 2 0 0 2
Dyskeratosis congenita, autosomal dominant 6 0 1 1 0 0 2
Dyskeratosis congenita, autosomal recessive 6 0 0 2 0 0 2
Dystonia 16 0 0 2 0 0 2
Dystonia 24 0 0 2 0 0 2
Dystonia 34, myoclonic 0 0 2 0 0 2
Dystonia 5 0 0 2 0 0 2
Dystonia 9 0 1 1 0 0 2
Early-onset generalized limb-onset dystonia 1 0 1 0 0 2
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 1 0 1 0 0 2
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 1 1 0 0 0 2
Ectopia lentis et pupillae 0 1 1 0 0 2
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 0 2 0 0 2
Ehlers-Danlos syndrome, arthrochalasia type 0 2 0 0 0 2
Ehlers-Danlos syndrome, periodontal type 2 0 0 2 0 0 2
Eichsfeld type congenital muscular dystrophy 1 1 0 0 0 2
Emery-Dreifuss muscular dystrophy 1, X-linked 1 1 0 0 0 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0 0 2 0 0 2
Enterokinase deficiency 0 2 0 0 0 2
Epidermolysis bullosa simplex 1A, generalized severe 0 2 0 0 0 2
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive 1 1 0 0 0 2
Epidermolysis bullosa, junctional 2A, intermediate 0 2 0 0 0 2
Epilepsy, childhood absence, susceptibility to, 6 0 0 2 0 0 2
Epilepsy, early-onset, vitamin B6-dependent 0 0 2 0 0 2
Epilepsy, familial focal, with variable foci 3 0 1 1 0 0 2
Epilepsy, familial temporal lobe, 1 0 0 2 0 0 2
Epilepsy, idiopathic generalized, susceptibility to, 18 0 0 2 0 0 2
Episodic kinesigenic dyskinesia 1 1 0 1 0 0 2
Erythrocytosis, familial, 4 0 0 2 0 0 2
Erythrocytosis, familial, 6 1 0 1 0 0 2
Fabry disease 1 0 1 0 0 2
Familial Mediterranean fever, autosomal dominant 0 0 2 0 0 2
Familial acute necrotizing encephalopathy 0 1 1 0 0 2
Familial adenomatous polyposis 3 0 0 2 0 0 2
Familial apolipoprotein C-II deficiency 0 2 0 0 0 2
Familial medullary thyroid carcinoma 0 0 2 0 0 2
Familial porphyria cutanea tarda 0 1 1 0 0 2
Familial renal glucosuria 0 0 2 0 0 2
Familial temporal lobe epilepsy 7 0 0 2 0 0 2
Fanconi anemia complementation group D1 0 0 2 0 0 2
Fanconi anemia complementation group J 1 0 1 0 0 2
Fanconi anemia complementation group N 0 1 1 0 0 2
Fanconi anemia complementation group P 0 1 1 0 0 2
Fanconi renotubular syndrome 1 0 0 2 0 0 2
Focal dermal hypoplasia 0 1 1 0 0 2
Focal segmental glomerulosclerosis 5 0 1 1 0 0 2
Frontometaphyseal dysplasia 1 0 0 2 0 0 2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 0 0 2 0 0 2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 0 0 2 0 0 2
Fructose-biphosphatase deficiency 1 1 0 0 0 2
Fucosidosis 1 1 0 0 0 2
GAPO syndrome 0 2 0 0 0 2
GM1 gangliosidosis type 3 1 0 1 0 0 2
GTP cyclohydrolase I deficiency with hyperphenylalaninemia 0 0 2 0 0 2
Gaucher disease type I 1 1 0 0 0 2
Generalized epilepsy with febrile seizures plus, type 1 0 0 2 0 0 2
Genitopatellar syndrome 0 1 1 0 0 2
Giant axonal neuropathy 1 0 0 2 0 0 2
Glucocorticoid deficiency 1 0 2 0 0 0 2
Glycogen storage disease IXd 0 0 2 0 0 2
Glycogen storage disease, type V 1 1 0 0 0 2
Goldberg-Shprintzen syndrome 0 1 1 0 0 2
Gordon syndrome 0 0 2 0 0 2
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 1 1 0 0 0 2
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 1 0 1 0 0 2
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 0 2 0 0 0 2
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 0 0 2 0 0 2
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies 0 0 2 0 0 2
H syndrome 1 0 1 0 0 2
Heart and brain malformation syndrome 0 0 2 0 0 2
Hennekam lymphangiectasia-lymphedema syndrome 1 0 0 2 0 0 2
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 0 1 1 0 0 2
Hereditary attention deficit-hyperactivity disorder 0 0 2 0 0 2
Hereditary diffuse gastric adenocarcinoma 0 0 2 0 0 2
Hereditary factor IX deficiency disease 2 0 0 0 0 2
Hereditary fructosuria 1 0 1 0 0 2
Hereditary lymphedema type I 0 2 0 0 0 2
Hereditary sensory and autonomic neuropathy type 6 0 1 1 0 0 2
Hereditary sensory neuropathy-deafness-dementia syndrome 0 0 2 0 0 2
Hereditary spastic paraplegia 10 0 0 2 0 0 2
Hereditary spastic paraplegia 31 1 0 1 0 0 2
Hereditary spastic paraplegia 5A 1 0 1 0 0 2
Heterotaxy, visceral, 8, autosomal 0 2 0 0 0 2
Heterotopia, periventricular, X-linked dominant 0 1 1 0 0 2
Histiocytic medullary reticulosis 0 1 1 0 0 2
Holoprosencephaly 13, X-linked 0 0 2 0 0 2
Holoprosencephaly 9 0 0 2 0 0 2
Hydrocephalus, nonsyndromic, autosomal recessive 1 0 1 1 0 0 2
Hyper-IgE recurrent infection syndrome 5, autosomal recessive 0 0 2 0 0 2
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 1 0 1 0 0 2
Hyperlipoproteinemia, type 1D 0 1 1 0 0 2
Hypermanganesemia with dystonia, polycythemia, and cirrhosis 0 1 1 0 0 2
Hyperphosphatasia with intellectual disability syndrome 2 0 1 1 0 0 2
Hypertrophic cardiomyopathy 6 0 0 2 0 0 2
Hypertrophic cardiomyopathy 8 0 0 2 0 0 2
Hypertrophic cardiomyopathy 9 0 1 1 0 0 2
Hypogonadotropic hypogonadism 14 with or without anosmia 0 0 2 0 0 2
Hypogonadotropic hypogonadism 8 with or without anosmia 0 0 2 0 0 2
Hypokalemic periodic paralysis, type 2 1 0 1 0 0 2
Hypomagnesemia, seizures, and intellectual disability 1 0 0 2 0 0 2
Hypomyelinating leukodystrophy 10 0 1 1 0 0 2
Hypomyelinating leukodystrophy 3 0 1 1 0 0 2
Hypomyelinating leukodystrophy 4 0 0 2 0 0 2
Hypophosphatemic nephrolithiasis/osteoporosis 1 0 0 2 0 0 2
Hypotonia with lactic acidemia and hyperammonemia 0 0 2 0 0 2
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 0 1 1 0 0 2
Hypotrichosis 6 0 1 1 0 0 2
Ichthyosis prematurity syndrome 0 0 2 0 0 2
Idiopathic basal ganglia calcification 1 0 0 2 0 0 2
Imerslund-Grasbeck syndrome type 2 0 1 1 0 0 2
Immunodeficiency 104 0 1 1 0 0 2
Immunodeficiency 11b with atopic dermatitis 0 0 2 0 0 2
Immunodeficiency 67 0 1 1 0 0 2
Immunodeficiency 72 with autoinflammation 0 1 1 0 0 2
Immunodeficiency due to MASP-2 deficiency 0 0 2 0 0 2
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 0 0 2 0 0 2
Infantile convulsions and choreoathetosis 2 0 0 0 0 2
Infantile hypophosphatasia 2 0 0 0 0 2
Infantile liver failure syndrome 2 0 1 1 0 0 2
Infantile onset spinocerebellar ataxia 0 2 0 0 0 2
Intellectual developmental disorder 59 0 0 2 0 0 2
Intellectual developmental disorder and retinitis pigmentosa; IDDRP 0 0 2 0 0 2
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 0 1 1 0 0 2
Intellectual developmental disorder with autism and speech delay 0 0 2 0 0 2
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 0 0 2 0 0 2
Intellectual developmental disorder with cardiac defects and dysmorphic facies 0 2 0 0 0 2
Intellectual developmental disorder with neuropsychiatric features 0 0 2 0 0 2
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 0 0 2 0 0 2
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 0 0 2 0 0 2
Intellectual developmental disorder, autosomal dominant 68 0 0 2 0 0 2
Intellectual developmental disorder, autosomal recessive 68 0 1 1 0 0 2
Intellectual developmental disorder, autosomal recessive 71 0 0 2 0 0 2
Intellectual disability, X-linked 30 0 0 2 0 0 2
Intellectual disability, X-linked 99 0 0 2 0 0 2
Intellectual disability, X-linked, syndromic, Bain type 2 0 0 0 0 2
Intellectual disability, X-linked, syndromic, Houge type 0 0 2 0 0 2
Intellectual disability, autosomal dominant 30 0 1 1 0 0 2
Intellectual disability, autosomal dominant 42 0 0 2 0 0 2
Intellectual disability, autosomal dominant 50 0 1 1 0 0 2
Intellectual disability, autosomal dominant 53 0 0 2 0 0 2
Intellectual disability, autosomal dominant 56 0 0 2 0 0 2
Intellectual disability, autosomal dominant 6 1 0 1 0 0 2
Interstitial lung disease 2 0 0 2 0 0 2
Interstitial lung disease due to ABCA3 deficiency 0 2 0 0 0 2
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 0 0 2 0 0 2
Isolated growth hormone deficiency, type 4 1 1 0 0 0 2
Isolated neonatal sclerosing cholangitis 0 1 1 0 0 2
Joubert syndrome 1 0 0 2 0 0 2
Joubert syndrome 16 0 0 2 0 0 2
Joubert syndrome 26 0 2 0 0 0 2
Joubert syndrome 33 0 0 2 0 0 2
Joubert syndrome 6 0 0 2 0 0 2
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 2 0 0 0 2
Kostmann syndrome 0 1 1 0 0 2
Laron-type isolated somatotropin defect 1 0 1 0 0 2
Laryngo-onycho-cutaneous syndrome 0 1 1 0 0 2
Lazy leukocyte syndrome 0 0 2 0 0 2
Leber congenital amaurosis 5 0 1 1 0 0 2
Lesch-Nyhan syndrome 0 0 2 0 0 2
Lethal congenital contracture syndrome 1 0 1 1 0 0 2
Leukodystrophy and acquired microcephaly with or without dystonia; 0 1 1 0 0 2
Leukodystrophy, hypomyelinating, 17 0 1 1 0 0 2
Leukodystrophy, hypomyelinating, 19, transient infantile 0 0 2 0 0 2
Leukodystrophy, hypomyelinating, 20 0 0 2 0 0 2
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 0 1 1 0 0 2
Leukoencephalopathy with mild cerebellar ataxia and white matter edema 0 1 1 0 0 2
Leukoencephalopathy, progressive, infantile-onset, with or without deafness 0 0 2 0 0 2
Leukoencephalopathy, progressive, with ovarian failure 0 1 1 0 0 2
Lewy body dementia 0 0 2 0 0 2
Liddle syndrome 2 0 0 2 0 0 2
Lipid proteinosis 1 1 0 0 0 2
Lipoyl transferase 1 deficiency 0 1 1 0 0 2
Lissencephaly due to TUBA1A mutation 0 1 1 0 0 2
Liver disease, severe congenital 0 1 1 0 0 2
Loeys-Dietz syndrome 1 0 0 2 0 0 2
Loeys-Dietz syndrome 2 0 1 1 0 0 2
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 0 0 2 0 0 2
Lung cancer 2 0 0 0 0 2
Luscan-Lumish syndrome 0 0 2 0 0 2
MEGF10-related myopathy 0 0 2 0 0 2
METHEMOGLOBINEMIA, BETA TYPE 2 0 0 0 0 2
MOGS-congenital disorder of glycosylation 0 0 2 0 0 2
Macular dystrophy with central cone involvement 1 1 0 0 0 2
Majeed syndrome 0 0 2 0 0 2
Malan overgrowth syndrome 0 2 0 0 0 2
Mandibulofacial dysostosis-microcephaly syndrome 1 0 1 0 0 2
Marden-Walker syndrome 0 0 2 0 0 2
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 0 2 0 0 2
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability 1 0 1 0 0 2
Menke-Hennekam syndrome 2 0 0 2 0 0 2
Metaphyseal chondrodysplasia, Schmid type 0 1 1 0 0 2
Methylcobalamin deficiency type cblG 0 2 0 0 0 2
Methylmalonic aciduria and homocystinuria type cblD 1 0 1 0 0 2
Methylmalonic aciduria, cblB type 1 0 1 0 0 2
Mevalonic aciduria 0 0 2 0 0 2
Microcephaly 13, primary, autosomal recessive 0 0 2 0 0 2
Microcephaly 20, primary, autosomal recessive 0 1 1 0 0 2
Microcephaly 26, primary, autosomal dominant 0 0 2 0 0 2
Microcephaly 27, primary, autosomal dominant 0 0 2 0 0 2
Microcephaly 3, primary, autosomal recessive 0 2 0 0 0 2
Microcephaly 30, primary, autosomal recessive 0 1 1 0 0 2
Microcephaly 4, primary, autosomal recessive 0 0 2 0 0 2
Microcephaly 6, primary, autosomal recessive 0 1 1 0 0 2
Microcephaly 7, primary, autosomal recessive 0 0 2 0 0 2
Microcephaly and chorioretinopathy 1 0 0 2 0 0 2
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 0 2 0 0 2
Microcephaly, short stature, and limb abnormalities 0 1 1 0 0 2
Microcephaly-thin corpus callosum-intellectual disability syndrome 0 0 2 0 0 2
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 0 1 1 0 0 2
Mismatch repair cancer syndrome 4 0 1 1 0 0 2
Mitochondrial DNA depletion syndrome 1 0 1 1 0 0 2
Mitochondrial DNA depletion syndrome 13 0 0 2 0 0 2
Mitochondrial DNA depletion syndrome 8a 0 1 1 0 0 2
Mitochondrial complex I deficiency, nuclear type 1 0 2 0 0 0 2
Mitochondrial complex I deficiency, nuclear type 16 0 0 2 0 0 2
Mitochondrial complex I deficiency, nuclear type 21 0 0 2 0 0 2
Mitochondrial complex I deficiency, nuclear type 31 0 1 1 0 0 2
Mitochondrial complex I deficiency, nuclear type 7 1 0 1 0 0 2
Mucopolysaccharidosis type 7 0 1 1 0 0 2
Mucopolysaccharidosis, MPS-III-C 1 0 1 0 0 2
Mucopolysaccharidosis, type 10 0 0 2 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 0 2 0 0 2
Multiple endocrine neoplasia, type 1 1 0 1 0 0 2
Multiple epiphyseal dysplasia type 5 1 1 0 0 0 2
Multiple mitochondrial dysfunctions syndrome 4 0 0 2 0 0 2
Muscle AMP deaminase deficiency 0 0 2 0 0 2
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome 0 0 2 0 0 2
Muscular dystrophy, limb-girdle, autosomal dominant 4 0 1 1 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 0 1 1 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 0 1 1 0 0 2
Myasthenic syndrome, congenital, 1B, fast-channel 0 0 2 0 0 2
Myasthenic syndrome, congenital, 24, presynaptic 0 0 2 0 0 2
Myoclonic dystonia 11 0 0 2 0 0 2
Myofibrillar myopathy 3 0 0 2 0 0 2
Myopathy, distal, 5 1 0 1 0 0 2
Nemaline myopathy 5 0 1 1 0 0 2
Nemaline myopathy 6 0 0 2 0 0 2
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 0 1 1 0 0 2
Neonatal intrahepatic cholestasis due to citrin deficiency 2 0 0 0 0 2
Neonatal pseudo-hydrocephalic progeroid syndrome 1 1 0 0 0 2
Nephronophthisis 1 2 0 0 0 0 2
Nephronophthisis 13 0 2 0 0 0 2
Nephrotic syndrome, IIa 26 0 0 2 0 0 2
Nephrotic syndrome, type 20 0 0 2 0 0 2
Neurodegeneration with brain iron accumulation 8 0 0 2 0 0 2
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 0 0 2 0 0 2
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia 0 0 2 0 0 2
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 0 0 2 0 0 2
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities 0 0 2 0 0 2
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 0 1 1 0 0 2
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly 0 0 2 0 0 2
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 0 0 2 0 0 2
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 0 0 2 0 0 2
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 0 0 2 0 0 2
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures 0 0 2 0 0 2
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 1 0 1 0 0 2
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 0 1 1 0 0 2
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 1 0 1 0 0 2
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 0 0 2 0 0 2
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 0 2 0 0 2
Neurodevelopmental disorder with speech delay and variable ocular anomalies 0 0 2 0 0 2
Neurodevelopmental, jaw, eye, and digital syndrome 0 0 2 0 0 2
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 1 0 1 0 0 2
Neuromuscular disease and ocular or auditory anomalies with or without seizures 0 0 2 0 0 2
Neuronal ceroid lipofuscinosis 1 0 2 0 0 0 2
Neuronal ceroid lipofuscinosis 3 0 1 1 0 0 2
Neuronopathy, distal hereditary motor, autosomal dominant 8 0 0 2 0 0 2
Neuronopathy, distal hereditary motor, type 7B 0 0 2 0 0 2
Neuroocular syndrome 1 0 0 2 0 0 2
Neuropathy, congenital hypomyelinating, 3 0 1 1 0 0 2
Nicolaides-Baraitser syndrome 0 0 2 0 0 2
Nijmegen breakage syndrome-like disorder 1 0 1 0 0 2
Noonan syndrome 11 1 0 1 0 0 2
Noonan syndrome 7 1 1 0 0 0 2
Noonan syndrome 8 1 0 1 0 0 2
Noonan syndrome 9 0 0 2 0 0 2
Normal pressure hydrocephalus 0 1 1 0 0 2
Occipital pachygyria and polymicrogyria 0 2 0 0 0 2
Oguchi disease-2 0 2 0 0 0 2
Okur-Chung neurodevelopmental syndrome 0 1 1 0 0 2
Opsismodysplasia 0 0 2 0 0 2
Osteogenesis imperfecta type 6 0 0 2 0 0 2
Osteogenesis imperfecta type 7 0 2 0 0 0 2
Osteogenesis imperfecta type III 0 1 1 0 0 2
Osteopathia striata with cranial sclerosis 0 0 2 0 0 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive 0 0 2 0 0 2
PERCHING syndrome 1 1 0 0 0 2
PMM2-congenital disorder of glycosylation 1 0 1 0 0 2
PYCR1-related de Barsy syndrome 1 1 0 0 0 2
Pallister-Hall syndrome 0 1 1 0 0 2
Pancreatic cancer, susceptibility to, 1 0 0 2 0 0 2
Parkinsonian-pyramidal syndrome 1 0 1 0 0 2
Pendred syndrome 1 1 0 0 0 2
Peroxisome biogenesis disorder 11A (Zellweger) 0 0 2 0 0 2
Peroxisome biogenesis disorder 14B 0 2 0 0 0 2
Peroxisome biogenesis disorder 8B 0 0 2 0 0 2
Pettigrew syndrome 1 1 0 0 0 2
Pfeiffer syndrome 2 0 0 0 0 2
Phelan-McDermid syndrome 0 0 2 0 0 2
Pilarowski-Bjornsson syndrome 0 0 2 0 0 2
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 1 0 1 0 0 2
Poirier-Bienvenu neurodevelopmental syndrome 0 1 1 0 0 2
Polycystic kidney disease 5 0 0 2 0 0 2
Polydactyly, postaxial, type A1 0 0 2 0 0 2
Pontocerebellar hypoplasia type 10 1 0 1 0 0 2
Pontocerebellar hypoplasia type 1B 1 1 0 0 0 2
Pontocerebellar hypoplasia type 2D 1 0 1 0 0 2
Pontocerebellar hypoplasia type 7 0 0 2 0 0 2
Pontocerebellar hypoplasia type 9 0 1 1 0 0 2
Pontocerebellar hypoplasia, type 14 0 0 2 0 0 2
Porencephaly-microcephaly-bilateral congenital cataract syndrome 0 1 1 0 0 2
Presynaptic congenital myasthenic syndrome 0 0 2 0 0 2
Primary ciliary dyskinesia 21 0 1 1 0 0 2
Primary ciliary dyskinesia 28 0 1 1 0 0 2
Primary ciliary dyskinesia 30 0 2 0 0 0 2
Primary coenzyme Q10 deficiency 8 0 0 2 0 0 2
Primary hypomagnesemia 0 0 2 0 0 2
Primrose syndrome 1 0 1 0 0 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 0 0 2 0 0 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 1 0 1 0 0 2
Progressive myoclonic epilepsy type 3 0 1 1 0 0 2
Progressive myoclonic epilepsy type 7 1 0 1 0 0 2
Progressive sclerosing poliodystrophy 0 0 2 0 0 2
Proximal myopathy with extrapyramidal signs 1 0 1 0 0 2
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 1 0 1 0 0 2
Pseudohypoparathyroidism type I A 0 1 1 0 0 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 0 0 2 0 0 2
Pyropoikilocytosis, hereditary 0 0 2 0 0 2
Pyruvate carboxylase deficiency 0 1 1 0 0 2
Pyruvate dehydrogenase E2 deficiency 0 1 1 0 0 2
Recurrent Neisseria infections due to factor D deficiency 0 0 2 0 0 2
Renal hypodysplasia/aplasia 1 0 1 1 0 0 2
Renal hypodysplasia/aplasia 3 0 0 2 0 0 2
Renpenning syndrome 0 0 2 0 0 2
Retinitis pigmentosa 25 0 1 1 0 0 2
Retinoblastoma 1 1 0 0 0 2
Rotor syndrome 0 0 2 0 0 2
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 0 1 1 0 0 2
SRD5A3-congenital disorder of glycosylation 1 0 1 0 0 2
Schinzel-Giedion syndrome 0 1 1 0 0 2
Seizures, benign familial infantile, 3 0 0 2 0 0 2
Seizures, benign familial neonatal, 2 0 0 2 0 0 2
Senior-Loken syndrome 1 2 0 0 0 0 2
Short-rib thoracic dysplasia 10 with or without polydactyly 0 0 2 0 0 2
Simpson-Golabi-Behmel syndrome type 1 0 0 2 0 0 2
Sitosterolemia 2 1 1 0 0 0 2
Snijders blok-fisher syndrome 0 0 2 0 0 2
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0 1 1 0 0 2
Spermatogenic failure 23 0 0 2 0 0 2
Spermatogenic failure 25 0 1 1 0 0 2
Sphingolipid activator protein 1 deficiency 0 1 1 0 0 2
Spinal muscular atrophy with congenital bone fractures 2 1 1 0 0 0 2
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 1 0 1 0 0 2
Spinocerebellar ataxia type 19/22 0 0 2 0 0 2
Spinocerebellar ataxia type 29 1 0 1 0 0 2
Spondylocostal dysostosis 1, autosomal recessive 2 0 0 0 0 2
Spondyloepimetaphyseal dysplasia, Missouri type 0 0 2 0 0 2
Spondyloepiphyseal dysplasia, Stanescu type 0 1 1 0 0 2
Steel syndrome 0 1 1 0 0 2
Stickler syndrome type 2 0 0 2 0 0 2
Stickler syndrome, type 4 0 0 2 0 0 2
Striatonigral degeneration, childhood-onset 0 1 1 0 0 2
Structural brain anomalies with impaired intellectual development and craniosynostosis 0 0 2 0 0 2
Syndromic X-linked intellectual disability 94 0 0 2 0 0 2
Syndromic X-linked intellectual disability Lubs type 0 0 2 0 0 2
Systemic lupus erythematosus 0 0 2 0 0 2
T-B+ severe combined immunodeficiency due to JAK3 deficiency 0 0 2 0 0 2
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 2 0 0 0 0 2
Teebi hypertelorism syndrome 2 0 0 2 0 0 2
Temtamy syndrome 2 0 0 0 0 2
Testosterone 17-beta-dehydrogenase deficiency 0 2 0 0 0 2
Thanatophoric dysplasia type 1 2 0 0 0 0 2
Thrombocytopenia 2 0 0 2 0 0 2
Thrombophilia due to protein C deficiency, autosomal dominant 0 0 2 0 0 2
Timothy syndrome 0 0 2 0 0 2
Torsion dystonia 6 0 1 1 0 0 2
Transcobalamin II deficiency 0 1 1 0 0 2
Treacher Collins syndrome 1 0 1 1 0 0 2
Usmani-Riazuddin syndrome, autosomal dominant 0 0 2 0 0 2
Vanishing white matter disease 0 1 1 0 0 2
Waardenburg syndrome type 1 1 0 1 0 0 2
Waardenburg syndrome type 4C 1 0 1 0 0 2
Wagner disease 0 0 2 0 0 2
Warsaw breakage syndrome 0 0 2 0 0 2
Werner syndrome 1 0 1 0 0 2
Wolcott-Rallison dysplasia 0 1 1 0 0 2
X-linked complicated corpus callosum dysgenesis 1 0 1 0 0 2
X-linked congenital hemolytic anemia 0 0 2 0 0 2
X-linked erythropoietic protoporphyria 0 1 1 0 0 2
X-linked hydrocephalus syndrome 1 0 1 0 0 2
X-linked severe combined immunodeficiency 2 0 0 0 0 2
Xeroderma pigmentosum group B 0 0 2 0 0 2
Xeroderma pigmentosum, group C 1 1 0 0 0 2
Zaki syndrome 0 0 2 0 0 2
Zimmermann-Laband syndrome 2 0 0 2 0 0 2
alpha Thalassemia 1 1 0 0 0 2
3-Methylglutaconic aciduria type 3 0 0 1 0 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 0 1 0 0 1
3-methylglutaconic aciduria, type VIIB 0 0 1 0 0 1
3MC syndrome 1 0 1 0 0 0 1
46,XX ovarian dysgenesis-short stature syndrome 1 0 0 0 0 1
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 0 0 1 0 0 1
46,XY sex reversal 11 0 0 1 0 0 1
46,XY sex reversal 3 0 0 1 0 0 1
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 1 0 0 0 0 1
ACCES syndrome 0 1 0 0 0 1
ALG11-congenital disorder of glycosylation 0 0 1 0 0 1
ALG6-congenital disorder of glycosylation 1C 0 0 1 0 0 1
Abdominal obesity-metabolic syndrome 3 0 0 1 0 0 1
Achromatopsia 7 0 1 0 0 0 1
Acne inversa, familial, 1 0 1 0 0 0 1
Acne inversa, familial, 2 0 0 1 0 0 1
Acrodysostosis 2 with or without hormone resistance 0 0 1 0 0 1
Acrofacial dysostosis Cincinnati type 0 0 1 0 0 1
Acute febrile neutrophilic dermatosis 0 0 1 0 0 1
Acyl-CoA dehydrogenase 9 deficiency 0 1 0 0 0 1
Adams-Oliver syndrome 2 0 0 1 0 0 1
Adams-Oliver syndrome 3 0 0 1 0 0 1
Adenine phosphoribosyltransferase deficiency 0 1 0 0 0 1
Adrenocortical carcinoma, hereditary 1 0 0 0 0 1
Adult-onset autosomal dominant demyelinating leukodystrophy 0 0 1 0 0 1
Agammaglobulinemia 9, autosomal recessive 0 0 1 0 0 1
Aicardi-Goutieres syndrome 1 1 0 0 0 0 1
Aicardi-Goutieres syndrome 5 0 0 1 0 0 1
Al Kaissi syndrome 0 1 0 0 0 1
Al-Raqad syndrome 0 1 0 0 0 1
Alacrima, achalasia, and intellectual disability syndrome 0 0 1 0 0 1
Aland island eye disease 0 1 0 0 0 1
Alopecia universalis congenita 0 0 1 0 0 1
Alopecia-intellectual disability syndrome 4 0 0 1 0 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 0 1 0 0 1
Alpha-N-acetylgalactosaminidase deficiency type 1 0 1 0 0 0 1
Alport syndrome 3b, autosomal recessive 0 0 1 0 0 1
Alternating hemiplegia of childhood 1 0 0 1 0 0 1
Amelogenesis imperfecta hypomaturation type 2A3 0 1 0 0 0 1
Amelogenesis imperfecta type 1G 0 1 0 0 0 1
Amyloidosis, hereditary systemic 1 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 12 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 15 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 21 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 22 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 5 0 1 0 0 0 1
Amyotrophic lateral sclerosis, susceptibility to, 24 0 0 1 0 0 1
Anauxetic dysplasia 2 0 1 0 0 0 1
Andersen Tawil syndrome 0 0 1 0 0 1
Anemia, sideroblastic, 5 0 0 1 0 0 1
Anencephaly 2 0 0 1 0 0 1
Aniridia 1 1 0 0 0 0 1
Annular epidermolytic ichthyosis 0 1 0 0 0 1
Anterior segment dysgenesis 3 0 0 1 0 0 1
Anterior segment dysgenesis 8 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 4 0 0 1 0 0 1
Aortic valve disease 2 0 0 1 0 0 1
Aortic valve disease 3 0 0 1 0 0 1
Apparent mineralocorticoid excess 0 0 1 0 0 1
Ariboflavinosis 0 0 1 0 0 1
Arrhinia with choanal atresia and microphthalmia syndrome 0 0 1 0 0 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 1 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 1 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 2 0 0 1 0 0 1
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect 0 0 1 0 0 1
Arthrogryposis multiplex congenita 2, neurogenic type 0 0 1 0 0 1
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 0 1 0 0 0 1
Arthrogryposis, Perthes disease, and upward gaze palsy 0 0 1 0 0 1
Arthrogryposis, distal, IIa 11 0 0 1 0 0 1
Arthrogryposis, distal, type 1A 1 0 0 0 0 1
Arthrogryposis, distal, type 2B2 0 0 1 0 0 1
Arts syndrome 0 1 0 0 0 1
Asphyxiating thoracic dystrophy 2 0 0 1 0 0 1
Atelosteogenesis type II 0 1 0 0 0 1
Atransferrinemia 0 0 1 0 0 1
Atrial septal defect 7 0 1 0 0 0 1
Atrial standstill 1 0 0 1 0 0 1
Atrophia bulborum hereditaria 0 1 0 0 0 1
Attention deficit-hyperactivity disorder, susceptibility to, 7 0 0 1 0 0 1
Atypical hemolytic-uremic syndrome with B factor anomaly 0 0 1 0 0 1
Atypical hemolytic-uremic syndrome with C3 anomaly 0 0 1 0 0 1
Atypical hemolytic-uremic syndrome with I factor anomaly 0 0 1 0 0 1
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 0 0 1 0 0 1
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly 0 0 1 0 0 1
Auriculocondylar syndrome 2 0 0 1 0 0 1
Autism, susceptibility to, X-linked 2 0 0 1 0 0 1
Autoinflammation with arthritis and dyskeratosis 0 0 1 0 0 1
Autosomal dominant Parkinson disease 1 1 0 0 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 0 1 0 0 1
Autosomal dominant limb-girdle muscular dystrophy type 1G 0 0 1 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 0 1 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 4 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 10 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 12 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 13 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 17 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 20 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 28 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 2B 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 3B 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 5 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 6 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 7 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 9 0 0 1 0 0 1
Autosomal dominant optic atrophy classic form 1 0 0 0 0 1
Autosomal dominant osteopetrosis 1 0 1 0 0 0 1
Autosomal dominant sensory ataxia 1 0 0 1 0 0 1
Autosomal dominant slowed nerve conduction velocity 0 0 1 0 0 1
Autosomal dominant striatal neurodegeneration type 1 0 0 1 0 0 1
Autosomal recessive Robinow syndrome 0 1 0 0 0 1
Autosomal recessive axonal neuropathy with neuromyotonia 1 0 0 0 0 1
Autosomal recessive complex spastic paraplegia type 9B 0 0 1 0 0 1
Autosomal recessive congenital ichthyosis 2 0 0 1 0 0 1
Autosomal recessive congenital ichthyosis 3 0 0 1 0 0 1
Autosomal recessive congenital ichthyosis 9 0 0 1 0 0 1
Autosomal recessive keratitis-ichthyosis-deafness syndrome 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2K 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2N 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2P 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2W 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2Y 0 1 0 0 0 1
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency 0 1 0 0 0 1
Autosomal recessive multiple pterygium syndrome 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 18A 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 23 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 24 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 28 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 49 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 59 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 61 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 70 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 74 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 79 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 84B 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 86 0 0 1 0 0 1
Autosomal recessive osteopetrosis 2 0 0 1 0 0 1
Autosomal recessive osteopetrosis 7 0 0 1 0 0 1
Autosomal recessive osteopetrosis 8 0 1 0 0 0 1
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 1 0 0 0 0 1
Autosomal recessive spastic paraplegia type 76 0 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 2 0 0 1 0 0 1
Avellino corneal dystrophy 1 0 0 0 0 1
B4GALT1-congenital disorder of glycosylation 0 0 1 0 0 1
BENTA disease 0 0 1 0 0 1
Bardet-Biedl syndrome 14 0 0 1 0 0 1
Bardet-Biedl syndrome 5 0 1 0 0 0 1
Bartter disease type 1 0 1 0 0 0 1
Basal ganglia calcification, idiopathic, 4 0 0 1 0 0 1
Basal ganglia calcification, idiopathic, 6 0 0 1 0 0 1
Bernard Soulier syndrome 0 1 0 0 0 1
Bilateral parasagittal parieto-occipital polymicrogyria 0 0 1 0 0 1
Bile acid conjugation defect 1 0 0 1 0 0 1
Biotin-responsive basal ganglia disease 1 0 0 0 0 1
Birt-Hogg-Dube syndrome 1 0 0 0 0 1
Blepharocheilodontic syndrome 1 0 0 1 0 0 1
Blepharocheilodontic syndrome 2 0 0 1 0 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 0 1 0 0 0 1
Blepharophimosis-impaired intellectual development syndrome 0 0 1 0 0 1
Bone marrow failure syndrome 5 1 0 0 0 0 1
Borjeson-Forssman-Lehmann syndrome 0 0 1 0 0 1
Braddock-carey syndrome 2 0 0 1 0 0 1
Brain abnormalities, neurodegeneration, and dysosteosclerosis 0 0 1 0 0 1
Brain dopamine-serotonin vesicular transport disease 0 0 1 0 0 1
Brain malformation renal syndrome 0 0 1 0 0 1
Brain small vessel disease 2A, autosomal dominant 0 0 1 0 0 1
Branchiooculofacial syndrome 0 0 1 0 0 1
Brittle cornea syndrome 2 0 0 1 0 0 1
Brugada syndrome 4 0 0 1 0 0 1
Brugada syndrome 8 0 0 1 0 0 1
Brugada syndrome 9 0 0 1 0 0 1
C syndrome 0 0 1 0 0 1
CFHR5 deficiency 0 0 1 0 0 1
COG1 congenital disorder of glycosylation 0 0 1 0 0 1
COG5-congenital disorder of glycosylation 0 0 1 0 0 1
COG6-congenital disorder of glycosylation 0 0 1 0 0 1
Calvarial doughnut lesions-bone fragility syndrome 0 0 1 0 0 1
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 0 1 0 0 0 1
Candidiasis, familial, 6 0 0 1 0 0 1
Capillary malformation-arteriovenous malformation 1 0 0 1 0 0 1
Cardiac valvular defect, developmental 0 0 1 0 0 1
Cardiac valvular dysplasia 2 0 1 0 0 0 1
Cardiac valvular dysplasia, X-linked 0 0 1 0 0 1
Cardiac-urogenital syndrome 0 0 1 0 0 1
Cardioacrofacial dysplasia 1 0 0 1 0 0 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 1 0 0 0 0 1
Cardiofaciocutaneous syndrome 3 1 0 0 0 0 1
Cardiomyopathy, dilated, 2D 0 0 1 0 0 1
Cardiomyopathy, dilated, 2F 0 0 1 0 0 1
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 0 1 0 0 1
Cardiomyopathy, familial hypertrophic, 28 0 0 1 0 0 1
Cataract 1 multiple types 1 0 0 0 0 1
Catel-Manzke syndrome 0 0 1 0 0 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 0 1 0 0 0 1
Cerebellar ataxia-hypogonadism syndrome 0 0 1 0 0 1
Cerebellar atrophy, developmental delay, and seizures 0 0 1 0 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 0 0 1 0 0 1
Cerebral palsy, spastic quadriplegic, 2 0 0 1 0 0 1
Cerebrooculofacioskeletal syndrome 3 0 0 1 0 0 1
Cerebrooculofacioskeletal syndrome 4 0 1 0 0 0 1
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 1 0 0 0 1
Charcot-Marie-Tooth Disease, axonal, type 2GG 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2F 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 1E 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 1F 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 2B1 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 2E 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 2R 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 4D 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 4E 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 4G 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4H 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 4K 1 0 0 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2EE 1 0 0 0 0 1
Charcot-Marie-Tooth disease, demyelinating, IIA 1I 0 1 0 0 0 1
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 0 0 1 0 0 1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 0 0 1 0 0 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0 0 1 0 0 1
Cholestasis, intrahepatic, of pregnancy, 3 0 1 0 0 0 1
Cholestasis, progressive familial intrahepatic, 5 0 0 1 0 0 1
Cholestasis, progressive familial intrahepatic, 9 0 1 0 0 0 1
Chromosome 2q32-q33 deletion syndrome 1 0 0 0 0 1
Chronic atrial and intestinal dysrhythmia 1 0 0 0 0 1
Chudley-McCullough syndrome 0 1 0 0 0 1
Chylomicron retention disease 1 0 0 0 0 1
Ciliary dyskinesia, primary, 42 0 0 1 0 0 1
Ciliary dyskinesia, primary, 43 0 0 1 0 0 1
Cockayne syndrome type 1 0 0 1 0 0 1
Coenzyme Q10 deficiency, primary, 1 0 0 1 0 0 1
Coffin-Siris syndrome 5 0 0 1 0 0 1
Coffin-Siris syndrome 6 0 0 1 0 0 1
Coffin-Siris syndrome 8 0 0 1 0 0 1
Cognitive impairment with or without cerebellar ataxia 0 0 1 0 0 1
Cold-induced sweating syndrome 1 0 1 0 0 0 1
Colorectal cancer, hereditary nonpolyposis, type 7 0 0 1 0 0 1
Combined immunodeficiency due to MALT1 deficiency 0 0 1 0 0 1
Combined immunodeficiency due to ORAI1 deficiency 0 1 0 0 0 1
Combined immunodeficiency due to ZAP70 deficiency 0 0 1 0 0 1
Combined malonic and methylmalonic acidemia 0 0 1 0 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 1 0 0 0 0 1
Combined oxidative phosphorylation defect type 20 0 0 1 0 0 1
Combined oxidative phosphorylation defect type 4 0 0 1 0 0 1
Combined oxidative phosphorylation defect type 9 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 33 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 39 0 1 0 0 0 1
Combined oxidative phosphorylation deficiency 40 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 44 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 56 0 0 1 0 0 1
Complement component 7 deficiency 1 0 0 0 0 1
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome 1 0 0 0 0 1
Complex cortical dysplasia with other brain malformations 4 0 1 0 0 0 1
Conduction disorder of the heart 0 0 1 0 0 1
Cone dystrophy with supernormal rod response 0 1 0 0 0 1
Cone-rod dystrophy 18 0 1 0 0 0 1
Cone-rod dystrophy and hearing loss 2 0 0 1 0 0 1
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 0 0 1 0 0 1
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 0 0 1 0 0 1
Congenital amegakaryocytic thrombocytopenia 1 0 0 0 0 1
Congenital bilateral aplasia of vas deferens from CFTR mutation 1 0 0 0 0 1
Congenital bile acid synthesis defect 3 0 0 1 0 0 1
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 0 0 1 0 0 1
Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 0 1 0 0 1
Congenital defect of folate absorption 0 1 0 0 0 1
Congenital diarrhea 7 with exudative enteropathy 0 0 1 0 0 1
Congenital disorder of deglycosylation 1 1 0 0 0 0 1
Congenital disorder of deglycosylation 2 0 0 1 0 0 1
Congenital disorder of glycosylation, type iit 0 0 1 0 0 1
Congenital generalized lipodystrophy type 4 0 1 0 0 0 1
Congenital glucose-galactose malabsorption 0 0 1 0 0 1
Congenital hyperammonemia, type I 0 0 1 0 0 1
Congenital muscular dystrophy with cataracts and intellectual disability 1 0 0 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 0 1 0 0 1
Congenital myasthenic syndrome 11 0 1 0 0 0 1
Congenital myasthenic syndrome 2C 0 0 1 0 0 1
Congenital myasthenic syndrome 3B 0 1 0 0 0 1
Congenital myasthenic syndrome 4A 1 0 0 0 0 1
Congenital myasthenic syndrome 4C 1 0 0 0 0 1
Congenital myasthenic syndrome 9 0 0 1 0 0 1
Congenital myopathy 18 0 1 0 0 0 1
Congenital myopathy 2b, severe infantile, autosomal recessive 0 0 1 0 0 1
Congenital myopathy 4B, autosomal recessive 0 0 1 0 0 1
Congenital stationary night blindness 1C 0 0 1 0 0 1
Contractures, pterygia, and variable skeletal fusions syndrome 1B 0 0 1 0 0 1
Corneal dystrophy, Fuchs endothelial, 3 0 1 0 0 0 1
Corneal dystrophy, Fuchs endothelial, 8 0 0 1 0 0 1
Corneal dystrophy, posterior polymorphous, 4 0 0 1 0 0 1
Cornelia de Lange syndrome 3 0 0 1 0 0 1
Cortical dysplasia, complex, with other brain malformations 11 0 0 1 0 0 1
Cowden syndrome 6 0 0 1 0 0 1
Coxopodopatellar syndrome 0 0 1 0 0 1
Craniofacial microsomia 1 0 0 1 0 0 1
Craniometaphyseal dysplasia, autosomal dominant 1 0 0 0 0 1
Craniotubular dysplasia, Ikegawa type 0 1 0 0 0 1
Crouzon syndrome 1 0 0 0 0 1
Cryptosporidiosis-chronic cholangitis-liver disease syndrome 0 0 1 0 0 1
Cutaneous mastocytosis 1 0 0 0 0 1
Cutaneous porphyria 0 0 1 0 0 1
Cutis laxa, autosomal dominant 1 0 0 1 0 0 1
Cutis laxa, autosomal recessive, type 2E 0 0 1 0 0 1
Cyclical neutropenia 0 0 1 0 0 1
Cystic leukoencephalopathy without megalencephaly 0 1 0 0 0 1
D,L-2-hydroxyglutaric aciduria 1 0 0 0 0 1
DDX41-related hematologic malignancy predisposition syndrome 0 0 1 0 0 1
DEGCAGS syndrome 0 0 1 0 0 1
DNA ligase IV deficiency 0 0 1 0 0 1
DOCK2 deficiency 0 1 0 0 0 1
DOORS syndrome 1 0 0 0 0 1
Deafness with labyrinthine aplasia, microtia, and microdontia 0 0 1 0 0 1
Deficiency of 2-methylbutyryl-CoA dehydrogenase 1 0 0 0 0 1
Deficiency of bisphosphoglycerate mutase 0 0 1 0 0 1
Deficiency of iodide peroxidase 1 0 0 0 0 1
Deficiency of malonyl-CoA decarboxylase 0 0 1 0 0 1
Dejerine-Sottas disease 0 0 1 0 0 1
Dermatitis, atopic 1 0 0 0 0 1
Dermatofibrosis lenticularis disseminata 0 0 1 0 0 1
Desbuquois dysplasia 2 0 0 1 0 0 1
Developmental and epileptic encephalopathy 100 0 0 1 0 0 1
Developmental and epileptic encephalopathy 106 1 0 0 0 0 1
Developmental and epileptic encephalopathy 89 0 0 1 0 0 1
Developmental and epileptic encephalopathy 97 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 17 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 28 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 35 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 38 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 44 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 48 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 52 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 58 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 75 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 77 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 78 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 8 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 81 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 84 0 0 1 0 0 1
Developmental delay and seizures with or without movement abnormalities 0 0 1 0 0 1
Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 0 1 0 0 0 1
Developmental delay with variable intellectual disability and dysmorphic facies 0 0 1 0 0 1
Diaphanospondylodysostosis 0 0 1 0 0 1
Diaphyseal dysplasia 1 0 0 0 0 1
Diarrhea 10, protein-losing enteropathy type 0 0 1 0 0 1
Diastrophic dysplasia 0 0 1 0 0 1
Diencephalic-mesencephalic junction dysplasia syndrome 1 1 0 0 0 0 1
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 0 1 0 0 1
Dihydropteridine reductase deficiency 0 1 0 0 0 1
Dihydropyrimidine dehydrogenase deficiency 1 0 0 0 0 1
Dilated cardiomyopathy 1CC 0 0 1 0 0 1
Dilated cardiomyopathy 1HH 0 0 1 0 0 1
Dilated cardiomyopathy 1I 0 0 1 0 0 1
Dilated cardiomyopathy 1J 0 0 1 0 0 1
Dilated cardiomyopathy 1KK 0 0 1 0 0 1
Dilated cardiomyopathy 1NN 1 0 0 0 0 1
Dilated cardiomyopathy 1V 0 0 1 0 0 1
Dilated cardiomyopathy 1Y 0 1 0 0 0 1
Dilated cardiomyopathy 1Z 0 0 1 0 0 1
Distal arthrogryposis type 2B1 1 0 0 0 0 1
Distal myopathy with posterior leg and anterior hand involvement 0 0 1 0 0 1
Dominant beta-thalassemia 1 0 0 0 0 1
Duane-radial ray syndrome 0 0 1 0 0 1
Dyskeratosis congenita, autosomal dominant 3 0 0 1 0 0 1
Dystonia 12 0 0 1 0 0 1
Dystonia 30 0 0 1 0 0 1
Dystonia 31 0 1 0 0 0 1
Dystonia 33 0 0 1 0 0 1
Early-onset Parkinson disease 20 0 0 1 0 0 1
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 0 1 0 0 0 1
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 1 0 0 0 0 1
Ectopia lentis 1, isolated, autosomal dominant 0 0 1 0 0 1
Ehlers-Danlos syndrome, arthrochalasia type, 2 1 0 0 0 0 1
Ehlers-Danlos syndrome, cardiac valvular type 0 0 1 0 0 1
Ehlers-Danlos syndrome, classic type, 2 0 0 1 0 0 1
Ehlers-Danlos syndrome, periodontal type 1 0 1 0 0 0 1
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 0 0 1 0 0 1
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 0 0 1 0 0 1
Enhanced S-cone syndrome 0 1 0 0 0 1
Epicanthus 1 0 0 0 0 1
Epidermolysis bullosa simplex 1C, localized 0 1 0 0 0 1
Epidermolysis bullosa simplex 2B, generalized intermediate 0 1 0 0 0 1
Epidermolysis bullosa simplex 5B, with muscular dystrophy 0 1 0 0 0 1
Epidermolysis bullosa simplex 7, with nephropathy and deafness 0 0 1 0 0 1
Epidermolysis bullosa simplex due to plakophilin deficiency 0 1 0 0 0 1
Epidermolysis bullosa simplex, Koebner type 0 0 1 0 0 1
Epidermolysis bullosa, junctional 2B, severe 0 1 0 0 0 1
Epidermolysis bullosa, junctional 3B, severe 0 0 1 0 0 1
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome 0 0 1 0 0 1
Epidermolytic ichthyosis 1 0 0 0 0 1
Epidermolytic palmoplantar keratoderma, 1 1 0 0 0 0 1
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 10 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 11 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 15 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 17 0 0 1 0 0 1
Epilepsy, progressive myoclonic, 11 0 0 1 0 0 1
Epithelial recurrent erosion dystrophy 0 0 1 0 0 1
Erythrocytosis, familial, 3 0 0 1 0 0 1
Exostoses, multiple, type 2 1 0 0 0 0 1
FADD-related immunodeficiency 0 1 0 0 0 1
FG syndrome 1 0 0 1 0 0 1
FG syndrome 2 0 0 1 0 0 1
FRAXE 0 0 1 0 0 1
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 1 0 0 0 0 1
Factor I deficiency 0 0 1 0 0 1
Factor V and factor VIII, combined deficiency of, type 1 0 0 1 0 0 1
Factor XIII, A subunit, deficiency of 0 0 1 0 0 1
Familial adenomatous polyposis 4 0 0 1 0 0 1
Familial amyloid nephropathy with urticaria AND deafness 0 0 1 0 0 1
Familial benign pemphigus 0 1 0 0 0 1
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 0 0 1 0 0 1
Familial hemophagocytic lymphohistiocytosis type 1 1 0 0 0 0 1
Familial hyperaldosteronism type II 0 0 1 0 0 1
Familial hypocalciuric hypercalcemia 1 0 0 1 0 0 1
Familial isolated congenital asplenia 0 0 1 0 0 1
Familial isolated deficiency of vitamin E 0 0 1 0 0 1
Familial juvenile hyperuricemic nephropathy type 2 0 0 1 0 0 1
Familial pulmonary capillary hemangiomatosis 0 1 0 0 0 1
Familial steroid-resistant nephrotic syndrome with sensorineural deafness 0 0 1 0 0 1
Fanconi anemia complementation group B 0 1 0 0 0 1
Fanconi anemia complementation group Q 0 0 1 0 0 1
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 0 0 1 0 0 1
Febrile seizures, familial, 2 0 0 1 0 0 1
Fetal akinesia deformation sequence 3 0 1 0 0 0 1
Fibrochondrogenesis 1 0 0 1 0 0 1
Filippi syndrome 0 0 1 0 0 1
Finnish type amyloidosis 0 0 1 0 0 1
Focal segmental glomerulosclerosis 1 0 0 1 0 0 1
Focal segmental glomerulosclerosis 7 0 1 0 0 0 1
Fontaine progeroid syndrome 0 0 1 0 0 1
Fowler syndrome 0 0 1 0 0 1
Fragile X syndrome 0 0 1 0 0 1
Frontotemporal dementia 0 0 1 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 0 0 1 0 0 1
GM3 synthase deficiency 0 1 0 0 0 1
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 0 1 0 0 0 1
Galloway-Mowat syndrome 3 0 0 1 0 0 1
Galloway-Mowat syndrome 4 0 0 1 0 0 1
Galloway-Mowat syndrome 5 0 0 1 0 0 1
Gamma-glutamylcysteine synthetase deficiency 0 0 1 0 0 1
Gastrointestinal defects and immunodeficiency syndrome 1 0 1 0 0 0 1
Gastrointestinal defects and immunodeficiency syndrome 2 0 0 1 0 0 1
Geleophysic dysplasia 1 0 0 1 0 0 1
Geleophysic dysplasia 2 0 1 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 10 0 0 1 0 0 1
Geroderma osteodysplastica 0 1 0 0 0 1
Gillespie syndrome 0 0 1 0 0 1
Glaucoma 1, open angle, G 0 1 0 0 0 1
Glaucoma 3, primary congenital, D 0 0 1 0 0 1
Global developmental delay, progressive ataxia, and elevated glutamine 0 0 1 0 0 1
Global developmental delay; Seizure 0 0 1 0 0 1
Glomerulotubular Nephropathy 0 0 1 0 0 1
Glucocorticoid deficiency 4 0 0 1 0 0 1
Glutaryl-CoA oxidase deficiency 0 1 0 0 0 1
Glycine encephalopathy 2 0 1 0 0 0 1
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 0 0 1 0 0 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 0 1 0 0 1
Glycosylphosphatidylinositol biosynthesis defect 15 0 0 1 0 0 1
Glycosylphosphatidylinositol biosynthesis defect 17 1 0 0 0 0 1
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 0 0 1 0 0 1
Granulomatous disease, chronic, X-linked 0 1 0 0 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 0 1 0 0 0 1
Grebe syndrome 0 0 1 0 0 1
Griscelli syndrome type 3 0 0 1 0 0 1
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 0 0 1 0 0 1
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 0 1 0 0 1
Haim-Munk syndrome 0 1 0 0 0 1
Hand-foot-genital syndrome 0 0 1 0 0 1
Hartsfield-Bixler-Demyer syndrome 0 0 1 0 0 1
Hb SS disease 1 0 0 0 0 1
Hearing loss, X-linked 4 0 0 1 0 0 1
Hearing loss, autosomal dominant 34, with or without inflammation 0 0 1 0 0 1
Hearing loss, autosomal dominant 73 0 0 1 0 0 1
Hearing loss, autosomal dominant 74 0 0 1 0 0 1
Hearing loss, autosomal dominant 80 0 0 1 0 0 1
Hearing loss, autosomal dominant 81 0 0 1 0 0 1
Hearing loss, autosomal recessive 106 0 0 1 0 0 1
Hearing loss, autosomal recessive 110 0 1 0 0 0 1
Heart defect - tongue hamartoma - polysyndactyly syndrome 0 1 0 0 0 1
Hematuria, benign familial, 1 0 0 1 0 0 1
Heme oxygenase 1 deficiency 0 0 1 0 0 1
Hemochromatosis type 3 1 0 0 0 0 1
Hemolytic anemia due to glutathione reductase deficiency 0 1 0 0 0 1
Hengel-Maroofian-Schols syndrome 0 1 0 0 0 1
Hepatic adenomas, familial 1 0 0 0 0 1
Hepatic veno-occlusive disease-immunodeficiency syndrome 0 1 0 0 0 1
Hepatorenocardiac degenerative fibrosis 0 1 0 0 0 1
Hereditary angioedema type 1 1 0 0 0 0 1
Hereditary angioedema type 3 0 1 0 0 0 1
Hereditary diffuse leukoencephalopathy with spheroids 0 0 1 0 0 1
Hereditary factor X deficiency disease 0 0 1 0 0 1
Hereditary hyperferritinemia with congenital cataracts 0 1 0 0 0 1
Hereditary persistence of fetal hemoglobin 1 0 0 0 0 1
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement 0 0 1 0 0 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia 0 0 1 0 0 1
Hereditary spastic paraplegia 13 0 0 1 0 0 1
Hereditary spastic paraplegia 39 0 1 0 0 0 1
Hereditary spastic paraplegia 3A 1 0 0 0 0 1
Hereditary spastic paraplegia 49 0 1 0 0 0 1
Hereditary spastic paraplegia 50 0 1 0 0 0 1
Hereditary spastic paraplegia 52 0 1 0 0 0 1
Hereditary spastic paraplegia 57 0 1 0 0 0 1
Hereditary spastic paraplegia 6 1 0 0 0 0 1
Hereditary spastic paraplegia 73 0 0 1 0 0 1
Hereditary spastic paraplegia 74 0 0 1 0 0 1
Hereditary spastic paraplegia 75 0 1 0 0 0 1
Hereditary spherocytosis type 4 0 0 1 0 0 1
Hermansky-Pudlak syndrome 10 0 0 1 0 0 1
Hermansky-Pudlak syndrome 2 0 1 0 0 0 1
Hermansky-Pudlak syndrome 3 0 1 0 0 0 1
Hermansky-Pudlak syndrome 4 0 0 1 0 0 1
Hermansky-Pudlak syndrome 5 0 1 0 0 0 1
Hermansky-Pudlak syndrome 9 0 1 0 0 0 1
Heterotaxy, visceral, 9, autosomal, with male infertility 0 0 1 0 0 1
Hip dysplasia, Beukes type 0 0 1 0 0 1
Hirschsprung disease, susceptibility to, 1 0 1 0 0 0 1
Holocarboxylase synthetase deficiency 0 1 0 0 0 1
Holoprosencephaly 11 0 0 1 0 0 1
Holoprosencephaly 3 0 0 1 0 0 1
Holoprosencephaly 7 0 0 1 0 0 1
Hydatidiform mole, recurrent, 1 0 0 1 0 0 1
Hyper-IgE recurrent infection syndrome 3, autosomal recessive 0 0 1 0 0 1
Hyper-IgE recurrent infection syndrome 4A, autosomal dominant 0 0 1 0 0 1
Hyperalphalipoproteinemia 1 0 0 1 0 0 1
Hyperammonemia, type III 0 1 0 0 0 1
Hypercalcemia, infantile, 1 0 0 1 0 0 1
Hypercholesterolemia, familial, 4 0 1 0 0 0 1
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 1 0 0 0 0 1
Hyperekplexia 3 0 0 1 0 0 1
Hyperinsulinism due to INSR deficiency 0 0 1 0 0 1
Hyperparathyroidism 2 with jaw tumors 1 0 0 0 0 1
Hyperparathyroidism, transient neonatal 1 0 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 1 0 0 1 0 0 1
Hypertrichotic osteochondrodysplasia Cantu type 1 0 0 0 0 1
Hypertrophic cardiomyopathy 11 0 0 1 0 0 1
Hypertrophic cardiomyopathy 17 0 0 1 0 0 1
Hypertrophic cardiomyopathy 25 0 0 1 0 0 1
Hypertrophic cardiomyopathy 7 0 1 0 0 0 1
Hypervalinemia and hyperleucine-isoleucinemia 0 0 1 0 0 1
Hypochondroplasia 1 0 0 0 0 1
Hypogonadotropic hypogonadism 11 with or without anosmia 0 0 1 0 0 1
Hypogonadotropic hypogonadism 18 with or without anosmia 0 0 1 0 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 1 0 0 0 0 1
Hypogonadotropic hypogonadism 22 with or without anosmia 0 0 1 0 0 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 0 1 0 0 1
Hypogonadotropic hypogonadism 7 with or without anosmia 1 0 0 0 0 1
Hypohidrotic X-linked ectodermal dysplasia 0 1 0 0 0 1
Hypomagnesemia, seizures, and intellectual disability 2 0 0 1 0 0 1
Hypomyelinating leukodystrophy 13 0 1 0 0 0 1
Hypomyelinating leukodystrophy 6 0 0 1 0 0 1
Hypomyelinating leukodystrophy 9 0 1 0 0 0 1
Hypoparathyroidism, familial isolated 1 0 0 1 0 0 1
Hypophosphatemic rickets, X-linked recessive 0 1 0 0 0 1
Hypospadias 2, X-linked 0 0 1 0 0 1
Hypothyroidism due to TSH receptor mutations 0 1 0 0 0 1
Hypotrichosis 7 0 1 0 0 0 1
Ichthyosis, annular epidermolytic 1 0 0 1 0 0 1
Ichthyosis, annular epidermolytic, 2 0