ClinVar Miner

Variants from Juno Genomics, Hangzhou Juno Genomics, Inc

Location: China  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
2046 1715 1042 1 0 4804

Gene and significance breakdown #

Total genes and gene combinations: 1451
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
PKD1 218 39 94 0 351
NF1 107 45 13 0 165
TTN 15 68 3 0 86
LDLR 29 26 3 0 58
PAH 45 7 3 0 55
FBN1 21 20 9 0 50
BRCA2 30 12 0 0 42
ATP7B 20 8 6 0 34
PKD2 23 4 6 0 33
TSC2 22 7 2 0 31
MYBPC3 9 14 5 0 28
CCDST, FLG 7 19 1 0 27
DMD 21 3 3 0 27
PTPN11 22 5 0 0 27
RYR1 6 13 7 0 26
COL2A1 11 8 5 0 24
ABCA4 13 7 3 0 23
BRCA1 17 6 0 0 23
MYO15A 6 9 8 0 23
CFTR 7 6 9 0 22
COL1A1 13 8 1 0 22
DUOX2 15 7 0 0 22
PKHD1 13 3 6 0 22
SCN5A 5 13 4 0 22
SLC12A3 18 2 2 0 22
SLC26A4 16 4 2 0 22
TYR 17 3 1 0 21
MYO7A 8 5 7 0 20
DYNC2H1 8 5 6 0 19
PALB2 11 8 0 0 19
OCA2 11 2 5 0 18
COL4A4 3 9 5 0 17
GJB2 13 3 1 0 17
USH2A 15 1 1 0 17
CC2D2A 9 2 4 0 15
FLNC 0 11 4 0 15
COL4A5 4 5 5 0 14
LZTR1 5 6 3 0 14
APOB 4 9 0 0 13
CHD7 6 2 5 0 13
FGFR3 10 1 2 0 13
KCNQ1 4 9 0 0 13
PMS2 4 8 1 0 13
SCN1A 3 4 6 0 13
DNAH1 4 5 3 0 12
F8 2 5 5 0 12
MYH7 4 7 1 0 12
BMPR2 6 2 3 0 11
BRIP1 4 7 0 0 11
COL1A2 4 7 0 0 11
COL7A1 4 4 3 0 11
CYP21A2, LOC106780800 7 3 1 0 11
MSH6 5 6 0 0 11
NSD1 6 5 0 0 11
PKP2 6 4 1 0 11
WFS1 2 3 6 0 11
ABCC2 5 3 2 0 10
ALPL 5 5 0 0 10
APC 5 5 0 0 10
ASPM 7 2 1 0 10
CEP290 8 2 0 0 10
EXT2 8 2 0 0 10
FOXL2 6 3 1 0 10
KMT2D 5 4 1 0 10
L1CAM 6 1 3 0 10
MMUT 8 1 1 0 10
TUBB8 0 3 7 0 10
COL3A1 2 7 0 0 9
DSP 3 6 0 0 9
FLNA 4 4 1 0 9
GBA1, LOC106627981 5 3 1 0 9
GH-LCR, SCN4A 1 4 4 0 9
KMT2A 5 3 1 0 9
PTEN 6 3 0 0 9
SPTB 4 4 1 0 9
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 1 7 0 9
ADNP 2 4 2 0 8
ANK1 7 1 0 0 8
ATM, C11orf65 1 6 1 0 8
DEPDC5 3 2 3 0 8
F11 4 2 2 0 8
FGFR2 8 0 0 0 8
G6PD 5 3 0 0 8
HBB, LOC106099062, LOC107133510 8 0 0 0 8
KCNH2 1 5 2 0 8
KCNQ2 2 5 1 0 8
LAMA2 4 1 3 0 8
MECP2 7 1 0 0 8
NF2 5 2 1 0 8
PROS1 1 4 3 0 8
SCN2A 3 2 3 0 8
STK11 5 2 1 0 8
TBCEL-TECTA, TECTA 0 2 6 0 8
TSC1 8 0 0 0 8
ADGRV1 0 4 3 0 7
ANKRD11 5 2 0 0 7
ARSL 2 1 4 0 7
CHD2 2 5 0 0 7
DDX3X 0 4 3 0 7
DNAH5 3 1 3 0 7
ETFDH 6 1 0 0 7
EYS 5 0 2 0 7
GCK 4 3 0 0 7
JAG1 5 0 2 0 7
LMNA 3 4 0 0 7
LOC102724058, SCN1A 0 6 1 0 7
LOC126861898, MYH7 1 6 0 0 7
MAT1A 1 3 3 0 7
MVP-DT, PRRT2 3 2 2 0 7
NIPBL 6 0 1 0 7
PTS 5 1 1 0 7
SDHB 5 2 0 0 7
SLC22A5 2 3 2 0 7
SLC4A1 2 3 2 0 7
TCOF1 7 0 0 0 7
ARID1A 1 3 2 0 6
ATM 2 4 0 0 6
ATP1A3 2 3 1 0 6
BEST1 1 3 2 0 6
COL4A3, MFF-DT 1 1 4 0 6
CREBBP 2 3 1 0 6
CYP4V2 4 0 2 0 6
EXT1 5 1 0 0 6
EYA1 2 2 2 0 6
FBN2 0 5 1 0 6
FGG 4 1 1 0 6
GAA 4 2 0 0 6
HRAS, LRRC56 5 1 0 0 6
IVD 2 3 1 0 6
KDM6A 5 0 1 0 6
MITF 2 0 4 0 6
NOTCH3 3 2 1 0 6
NPHP3, NPHP3-ACAD11 3 3 0 0 6
OTOF 2 3 1 0 6
PATL2 1 1 4 0 6
PAX6 3 2 1 0 6
PLA2G6 5 1 0 0 6
POGZ 4 2 0 0 6
PTCH1 3 2 1 0 6
RAI1 3 2 1 0 6
SERPINC1 2 1 3 0 6
SRD5A2 5 1 0 0 6
SYNGAP1 5 1 0 0 6
TCF4 3 2 1 0 6
TGFBR1 3 2 1 0 6
TPM1 0 2 4 0 6
TRIO 1 4 1 0 6
VPS13B 4 1 1 0 6
VWF 3 3 0 0 6
ZP1 4 0 2 0 6
ACADM 0 3 2 0 5
ACADSB 2 2 1 0 5
ALOX12B 2 1 2 0 5
ALPK3 2 2 1 0 5
ARX 4 1 0 0 5
ASH1L 1 1 3 0 5
BARD1 3 2 0 0 5
BRCA1, LOC126862571 4 1 0 0 5
CACNA1A 4 0 1 0 5
CACNA1C 0 3 2 0 5
CD36 3 2 0 0 5
CHD8 1 4 0 0 5
CLCN1 2 2 1 0 5
COL10A1, NT5DC1 0 3 2 0 5
COL4A1 1 1 3 0 5
COL5A1 3 0 2 0 5
CYP17A1 1 3 1 0 5
CYP27A1 3 2 0 0 5
DDX11 2 2 1 0 5
DSG2 0 5 0 0 5
DYSF 4 0 1 0 5
EPHB4 1 3 1 0 5
EVC2 2 3 0 0 5
F7 1 4 0 0 5
FLNB 2 1 2 0 5
GCDH 5 0 0 0 5
GJB1 2 3 0 0 5
GLI2 1 4 0 0 5
GLI3 3 1 1 0 5
GNE 1 3 1 0 5
HMGCS2 0 5 0 0 5
KAT6B 1 3 1 0 5
LOC129930446, MMACHC 3 1 1 0 5
LOXHD1 0 4 1 0 5
LRP5 2 0 3 0 5
MYO6 0 1 4 0 5
NEB 4 0 1 0 5
NEB, RIF1 5 0 0 0 5
NR5A1 0 0 5 0 5
PHEX 3 2 0 0 5
PRKCSH 0 3 2 0 5
PROC 1 4 0 0 5
RB1 4 1 0 0 5
RUNX2 2 3 0 0 5
RYR2 0 3 2 0 5
SLC45A2 2 3 0 0 5
SRCAP 3 1 1 0 5
SYNE1 2 3 0 0 5
TCF12 1 4 0 0 5
TCF20 3 0 2 0 5
TMC1 0 1 4 0 5
TTR 2 3 0 0 5
ABCD1, PLXNB3 1 2 1 0 4
ACADS 3 1 0 0 4
ACADVL 3 1 0 0 4
ACTA2 3 1 0 0 4
ACVRL1 2 1 1 0 4
ARID1B 2 2 0 0 4
ASS1 1 1 2 0 4
AUTS2 2 2 0 0 4
BCHE 1 3 0 0 4
BSCL2, HNRNPUL2-BSCL2 3 1 0 0 4
BTK 2 1 1 0 4
CAPN3 3 1 0 0 4
CBS 3 0 1 0 4
CDH23 1 2 1 0 4
CDKL5 1 1 2 0 4
CERKL 2 2 0 0 4
CFAP251 3 0 1 0 4
CHD3 0 2 2 0 4
CHEK2 3 1 0 0 4
COL9A3 1 0 3 0 4
COMP 1 1 2 0 4
CPT1A 0 2 2 0 4
CTCF 0 2 2 0 4
DCX 1 2 1 0 4
DDX41 2 2 0 0 4
DGUOK 2 2 0 0 4
DNMT3A 2 2 0 0 4
DOCK6 0 3 1 0 4
DYRK1A 1 3 0 0 4
EDA 2 2 0 0 4
FANCA 1 1 2 0 4
FSHR 1 1 2 0 4
GJA8 0 3 1 0 4
GLMN 1 3 0 0 4
GPR179 0 3 1 0 4
GRIN2B 1 1 2 0 4
GUCY2D 2 0 2 0 4
HIVEP2 2 1 1 0 4
HNF1A 3 1 0 0 4
HNF1B 2 1 1 0 4
HOGA1 2 2 0 0 4
IRF6 1 1 2 0 4
KAT6A 2 2 0 0 4
KDM5C 0 2 2 0 4
KIF11 2 1 1 0 4
LPL 1 3 0 0 4
LRP2 1 2 1 0 4
MFN2 3 0 1 0 4
MLH1 3 1 0 0 4
MMACHC 4 0 0 0 4
MME 1 2 1 0 4
MSH2 3 1 0 0 4
MTHFR 1 2 1 0 4
MYH3 2 0 2 0 4
MYO18B 0 1 3 0 4
NAA15 1 2 1 0 4
NFIX 1 3 0 0 4
NOTCH1 0 1 3 0 4
NPHS1 2 1 1 0 4
NRXN1 1 0 3 0 4
OFD1 1 2 1 0 4
OTC 2 2 0 0 4
PAX3 0 3 1 0 4
PKLR 1 1 2 0 4
PMM2 2 0 2 0 4
POLG 0 2 2 0 4
RECQL4 3 0 1 0 4
RERE 0 3 1 0 4
RET 4 0 0 0 4
RPGR 1 2 1 0 4
RPS6KA3 2 1 1 0 4
SBDS 3 0 1 0 4
SDHA 1 3 0 0 4
SLC25A13 4 0 0 0 4
SLC6A8 3 0 1 0 4
SLCO2A1 3 1 0 0 4
SOX5 1 3 0 0 4
SPAST 2 2 0 0 4
SPG11 3 0 1 0 4
TAOK1 0 3 1 0 4
TMEM260 1 2 1 0 4
TMPRSS3 3 1 0 0 4
TNNT2 0 3 1 0 4
TRIT1 0 1 3 0 4
TULP1 2 2 0 0 4
USP9Y 0 0 4 0 4
ZP2 0 1 3 0 4
ABCA12 2 0 1 0 3
ABCC6 1 1 1 0 3
ABCC8 1 1 1 0 3
ABCG5, DYNC2LI1 2 1 0 0 3
ABHD14A-ACY1, ACY1 0 0 3 0 3
ACAD9 2 0 1 0 3
ACAN 0 2 1 0 3
ACSF3 0 3 0 0 3
ACSL4 1 0 2 0 3
ACTA1 1 2 0 0 3
ACTB 1 0 2 0 3
ACTC1, GJD2-DT 1 2 0 0 3
ALDH7A1 1 2 0 0 3
ALMS1 0 3 0 0 3
ANOS1 2 1 0 0 3
ATP6V0A4 2 1 0 0 3
ATRX 1 1 1 0 3
AVPR2 3 0 0 0 3
BBS2 2 1 0 0 3
BBS7 3 0 0 0 3
BCKDHA 2 1 0 0 3
BCL11A 0 3 0 0 3
BLTP1 0 1 2 0 3
BRAF 3 0 0 0 3
CACNA1D 0 2 1 0 3
CACNA1G 0 2 1 0 3
CACNA1H 0 0 3 0 3
CASK 0 3 0 0 3
CDH1 1 2 0 0 3
CEP135 0 2 1 0 3
CLCNKB, LOC106501713 1 2 0 0 3
CLTC 2 0 1 0 3
CNGA3 1 2 0 0 3
COL11A1 0 0 3 0 3
CPS1 0 2 1 0 3
CRB1 2 1 0 0 3
CSNK2B 1 1 1 0 3
CSPP1 2 1 0 0 3
CTNND1, TMX2-CTNND1 1 2 0 0 3
CUL3 2 1 0 0 3
CUX1 1 1 1 0 3
CYP21A2, LOC106780800, LOC110631417 0 3 0 0 3
CYP2U1 1 1 1 0 3
DDC 2 0 1 0 3
DNAH10 0 0 3 0 3
DNAH11 1 1 1 0 3
DNHD1 0 1 2 0 3
DPYS 1 2 0 0 3
DUOXA2 2 1 0 0 3
DYNC1H1 2 1 0 0 3
EDEM3 1 0 2 0 3
EFTUD2 1 2 0 0 3
FGA 2 1 0 0 3
FGFR1 1 2 0 0 3
FKBP10 2 1 0 0 3
FLCN 3 0 0 0 3
FOXP1 0 2 1 0 3
G6PC1 2 1 0 0 3
GABRG2 2 0 1 0 3
GALNS 1 2 0 0 3
GDF5 0 2 1 0 3
GHR 0 0 3 0 3
GLA, RPL36A-HNRNPH2 2 1 0 0 3
GLB1 2 1 0 0 3
GPNMB 2 1 0 0 3
GRIA3 0 1 2 0 3
GRIN2A 1 1 1 0 3
HDAC8 0 1 2 0 3
HERC2 0 2 1 0 3
HFE 2 1 0 0 3
HGD 1 1 1 0 3
HNRNPK 1 2 0 0 3
HPS3 2 0 1 0 3
HSD17B4 0 1 2 0 3
HYDIN 0 1 2 0 3
IBA57 1 1 1 0 3
IFT80, TRIM59-IFT80 0 0 3 0 3
INSR 0 3 0 0 3
ITGA2B 2 0 1 0 3
ITGA7 1 1 1 0 3
KANSL1 2 0 1 0 3
KCNB1 1 2 0 0 3
KCNQ4 1 2 0 0 3
KMT2B 1 2 0 0 3
KMT2C 0 1 2 0 3
KRT9 2 0 1 0 3
LOC126806423, TTN 0 3 0 0 3
LOC126806425, TTN 0 3 0 0 3
LRBA 1 0 2 0 3
MAGEL2 2 1 0 0 3
MEN1 1 2 0 0 3
MERTK 2 0 1 0 3
MOS 0 1 2 0 3
MPDZ 3 0 0 0 3
MPZ 2 1 0 0 3
MSTO1 0 2 1 0 3
MYT1L 2 1 0 0 3
NADSYN1 0 1 2 0 3
NAGLU 2 1 0 0 3
NALCN 0 1 2 0 3
NBEAL2 0 0 3 0 3
NEK1 0 3 0 0 3
NEK8 1 0 2 0 3
NFIA 0 3 0 0 3
NHS 1 2 0 0 3
NOG 0 2 1 0 3
NPC1 2 1 0 0 3
NR0B1 1 0 2 0 3
OBSL1 0 1 2 0 3
OFD1, TRAPPC2 1 1 1 0 3
OTOGL 2 1 0 0 3
PARS2 0 1 2 0 3
PAX2 1 1 1 0 3
PCDH15 0 1 2 0 3
PCSK9 1 1 1 0 3
PEX26 0 3 0 0 3
PIK3C2G, PLCZ1 0 2 1 0 3
PNPLA1 0 2 1 0 3
POLR3B 1 0 2 0 3
PRPF31 2 0 1 0 3
PYGM 0 2 1 0 3
RAD51C 2 1 0 0 3
RAD51D, RAD51L3-RFFL 3 0 0 0 3
RAF1 1 1 1 0 3
RIT1 2 1 0 0 3
RP1 0 3 0 0 3
SATB2 3 0 0 0 3
SCN1A, SCN9A 0 1 2 0 3
SCN4A 1 1 1 0 3
SCN8A 2 0 1 0 3
SEC63 0 3 0 0 3
SETBP1 2 0 1 0 3
SETD5 2 1 0 0 3
SHANK3 2 1 0 0 3
SKIC3 3 0 0 0 3
SLC16A2 0 2 1 0 3
SLC26A2 3 0 0 0 3
SLC6A1 1 2 0 0 3
SMARCC2 0 2 1 0 3
SNHG14, UBE3A 0 2 1 0 3
SNRNP200 0 0 3 0 3
SPINK5 3 0 0 0 3
STRC 2 1 0 0 3
STS 1 2 0 0 3
STXBP1 3 0 0 0 3
TBC1D24 2 0 1 0 3
TCIRG1 2 1 0 0 3
TGFBI 2 0 1 0 3
TGFBR2 1 0 2 0 3
TNNI3 2 1 0 0 3
TNRC6B 1 0 2 0 3
TP53 2 1 0 0 3
TRIP12 2 1 0 0 3
TTC21B 2 1 0 0 3
TUBA1A 0 3 0 0 3
UMOD 0 0 3 0 3
VHL 2 1 0 0 3
WAS 3 0 0 0 3
WDR35 2 1 0 0 3
WDR45 1 1 1 0 3
AARS2 1 1 0 0 2
ABCB4 0 1 1 0 2
ABCD1 0 2 0 0 2
ACAT1 2 0 0 0 2
ACTG1 0 1 1 0 2
ADAMTS18 2 0 0 0 2
AGK 2 0 0 0 2
AGL 1 0 1 0 2
AGO1 0 1 1 0 2
AHDC1 1 0 1 0 2
AHI1 0 2 0 0 2
ALDH3A2 2 0 0 0 2
ALG6 0 2 0 0 2
ALKBH8 0 0 2 0 2
AMPD2 0 1 1 0 2
ANO5 1 1 0 0 2
ANXA11 0 0 2 0 2
AP4S1 2 0 0 0 2
AR, LOC109504725 1 0 1 0 2
ARG1, MED23 0 0 2 0 2
ARMC9 1 1 0 0 2
ARR3 0 0 2 0 2
ASAH1 0 2 0 0 2
ASCC1 0 0 2 0 2
ASXL1 0 2 0 0 2
ASXL3 0 2 0 0 2
ATP1A2 0 2 0 0 2
ATP2A1 1 1 0 0 2
ATP7A 1 0 1 0 2
ATR 0 2 0 0 2
ATRIP, ATRIP-TREX1, TREX1 1 1 0 0 2
B3GALNT2 2 0 0 0 2
BAP1 0 1 1 0 2
BBS4 0 2 0 0 2
BCKDHB 2 0 0 0 2
BCS1L 2 0 0 0 2
BLK 0 0 2 0 2
BLM 2 0 0 0 2
BLOC1S1-RDH5, CD63, RDH5 2 0 0 0 2
BNC1 0 0 2 0 2
BRAT1 1 1 0 0 2
CACNA1S 0 2 0 0 2
CAD 1 1 0 0 2
CAMTA1 0 1 1 0 2
CASR 0 1 1 0 2
CCDC40 0 2 0 0 2
CDAN1 0 1 1 0 2
CDKL5, RS1 2 0 0 0 2
CDKN1C 0 2 0 0 2
CFTR, LOC111674472 2 0 0 0 2
CFTR, LOC111674475 1 0 1 0 2
CHRNG 2 0 0 0 2
CIC 0 1 1 0 2
CNKSR2 0 2 0 0 2
CNOT1 2 0 0 0 2
CNOT3 0 2 0 0 2
COG5 0 0 2 0 2
COL18A1, SLC19A1 1 1 0 0 2
COL1A1, LOC126862586 1 1 0 0 2
COL27A1 0 0 2 0 2
COL6A1 2 0 0 0 2
COL6A2 0 2 0 0 2
COQ8A 0 2 0 0 2
COQ8B 0 1 1 0 2
COQ9 1 0 1 0 2
CPLANE1 1 0 1 0 2
CPT2 2 0 0 0 2
CRAT 0 0 2 0 2
CRYBB2 0 2 0 0 2
CSF1R 1 1 0 0 2
CSNK2A1 1 1 0 0 2
CUL7 0 2 0 0 2
CWC27 0 2 0 0 2
CYP1B1 0 1 1 0 2
CYP7B1 1 1 0 0 2
D2HGDH 0 1 1 0 2
DEAF1 0 0 2 0 2
DES 1 1 0 0 2
DLD 0 1 1 0 2
DLG4, LOC126862479 2 0 0 0 2
DLL1 1 0 1 0 2
DLX5 0 1 1 0 2
DNAAF11 0 2 0 0 2
DNAH9 2 0 0 0 2
DNAI1 0 2 0 0 2
DST 0 0 2 0 2
DYNC2I1 0 2 0 0 2
EBF3 0 1 1 0 2
EIF2B3 0 1 1 0 2
EMC1 0 2 0 0 2
ENG 0 1 1 0 2
EPCAM 0 1 1 0 2
ERBB3 0 0 2 0 2
ERCC2 2 0 0 0 2
ERCC6 0 1 1 0 2
ESR2 0 0 2 0 2
EVC 0 2 0 0 2
F12 1 1 0 0 2
F5 2 0 0 0 2
F9 1 1 0 0 2
FANCD2, LOC107303338 1 1 0 0 2
FBN1, LOC126862124 0 2 0 0 2
FDXR 0 1 1 0 2
FERMT1 2 0 0 0 2
FGB 0 1 1 0 2
FH 1 1 0 0 2
FKTN 1 0 1 0 2
FLT4 0 1 1 0 2
FOXC1 0 1 1 0 2
FREM1 0 1 1 0 2
FSIP2 1 0 1 0 2
GALC 1 0 1 0 2
GALT 0 2 0 0 2
GATA3 2 0 0 0 2
GATA6 1 1 0 0 2
GATAD1, PEX1 1 1 0 0 2
GBE1 1 1 0 0 2
GDF9 0 0 2 0 2
GEMIN5 0 0 2 0 2
GFAP 1 0 1 0 2
GGCX 1 1 0 0 2
GLDN 1 1 0 0 2
GNAS 2 0 0 0 2
GNPTAB 0 2 0 0 2
GREB1L 0 1 1 0 2
GRIN1 0 1 1 0 2
GSDME 1 0 1 0 2
HACE1 0 1 1 0 2
HAMP 0 0 2 0 2
HBA1, HBA2, LOC106804612 1 1 0 0 2
HBA2, LOC106804612 1 0 1 0 2
HEXA 0 1 1 0 2
HGSNAT 1 0 1 0 2
HLCS 1 0 1 0 2
HMBS 0 1 1 0 2
HNF4A 2 0 0 0 2
HOXA13, LOC107126288 1 0 1 0 2
HPGD 2 0 0 0 2
HPS1 1 1 0 0 2
HPS6 0 2 0 0 2
IDUA 0 1 1 0 2
IGF1R 0 1 1 0 2
IL36RN 2 0 0 0 2
IQSEC2 0 0 2 0 2
IRAK4 1 1 0 0 2
ITGA3 0 2 0 0 2
KCND3 0 0 2 0 2
KCNJ1 0 2 0 0 2
KCNMA1 0 1 1 0 2
KCNQ1, KCNQ1OT1 1 1 0 0 2
KDM6B, LOC121587574 2 0 0 0 2
KIT 0 1 1 0 2
KMT2E 1 1 0 0 2
KMT5B 0 2 0 0 2
KRAS 2 0 0 0 2
LAMA3 0 2 0 0 2
LAMB2 1 1 0 0 2
LGI1 0 1 1 0 2
LIG4 2 0 0 0 2
LIPC 0 0 2 0 2
LIPH 2 0 0 0 2
LMX1B 1 0 1 0 2
LOC110121269, SCN5A 0 1 1 0 2
LOC122152296, USH2A 1 1 0 0 2
LOC123956210, SLC26A4 2 0 0 0 2
LOC126806421, TTN 0 2 0 0 2
LOC126806426, TTN 0 2 0 0 2
LOC129992813, PKD2 2 0 0 0 2
MADD 0 1 1 0 2
MAP3K7 0 0 2 0 2
MAPT 1 0 1 0 2
MCCC1 1 1 0 0 2
MED12 1 0 1 0 2
MED13 0 1 1 0 2
MEF2C 0 0 2 0 2
MEI1 0 0 2 0 2
MFSD8 2 0 0 0 2
MIR6511B1, PKD1 0 2 0 0 2
MLC1 0 1 1 0 2
MORC2 0 0 2 0 2
MPL 2 0 0 0 2
MPZL2 2 0 0 0 2
MTM1 1 1 0 0 2
MTOR 1 0 1 0 2
MUTYH 1 1 0 0 2
MYH11 0 1 1 0 2
MYH14 0 0 2 0 2
MYO19, PIGW 0 0 2 0 2
MYO3A 0 2 0 0 2
MYOCD 0 1 1 0 2
MYRF 1 0 1 0 2
NAA10 0 0 2 0 2
NBEA 1 1 0 0 2
NBN 0 2 0 0 2
NCR1, NLRP7 1 1 0 0 2
NDP 0 2 0 0 2
NDUFAF6 2 0 0 0 2
NEFL 2 0 0 0 2
NGLY1 1 0 1 0 2
NPHP1 1 1 0 0 2
NPHS2 0 2 0 0 2
NRAS 2 0 0 0 2
ODAD1 1 1 0 0 2
ODAD3 0 2 0 0 2
OSMR 0 1 1 0 2
P3H1 1 1 0 0 2
PADI6 0 1 1 0 2
PANK2 0 1 1 0 2
PCARE 0 2 0 0 2
PCCA 2 0 0 0 2
PDE4D 0 0 2 0 2
PEX10 1 1 0 0 2
PEX6 1 1 0 0 2
PEX7 0 1 1 0 2
PFKM 0 0 2 0 2
PHEX, PTCHD1 2 0 0 0 2
PHKA2 0 2 0 0 2
PHKB 1 0 1 0 2
PIK3CA 1 1 0 0 2
PLP1, RAB9B 0 2 0 0 2
PMFBP1 1 0 1 0 2
PNPLA2 1 1 0 0 2
POMGNT1, TSPAN1 0 2 0 0 2
POMT1 1 0 1 0 2
POMT2 0 2 0 0 2
POU1F1 1 1 0 0 2
POU4F3, RBM27-POU4F3 0 1 1 0 2
PPP1R12A 1 1 0 0 2
PPT1 0 0 2 0 2
PRNP 1 1 0 0 2
PROKR2 0 0 2 0 2
PROM1 2 0 0 0 2
PRPH2 1 1 0 0 2
PRR12 0 2 0 0 2
PRUNE1 2 0 0 0 2
PTPRQ 1 1 0 0 2
PURA 1 0 1 0 2
RAB39B 0 0 2 0 2
RAD50 0 2 0 0 2
RAPSN 0 0 2 0 2
RBM20 0 2 0 0 2
REEP6 0 0 2 0 2
RELN 0 0 2 0 2
ROR2 1 1 0 0 2
RP1L1 0 0 2 0 2
RPE65 1 0 1 0 2
RPGRIP1L 2 0 0 0 2
RPL13 0 1 1 0 2
RTTN 0 2 0 0 2
SALL1 1 0 1 0 2
SBF1 0 2 0 0 2
SCAF4 0 1 1 0 2
SCN1B 0 0 2 0 2
SCN3A 0 1 1 0 2
SCNN1A 1 1 0 0 2
SDHC 2 0 0 0 2
SEC23B 1 1 0 0 2
SERPINB7 2 0 0 0 2
SERPINF1 1 0 1 0 2
SERPING1 0 2 0 0 2
SETD1B 0 1 1 0 2
SGSH 0 2 0 0 2
SH3TC2 0 2 0 0 2
SHANK2 0 2 0 0 2
SI 0 2 0 0 2
SIPA1L3 0 0 2 0 2
SIX1 0 1 1 0 2
SLC25A46 0 2 0 0 2
SLC34A1 1 1 0 0 2
SLC38A8 1 0 1 0 2
SLC6A9 0 0 2 0 2
SMAD4 1 1 0 0 2
SMARCB1 0 1 1 0 2
SMG8 0 2 0 0 2
SOHLH1 0 0 2 0 2
SOS1 1 1 0 0 2
SOX11 0 2 0 0 2
SOX6 0 2 0 0 2
SPINK1 0 2 0 0 2
SPRED1 1 1 0 0 2
SPTA1 1 1 0 0 2
SRRM2 1 1 0 0 2
STAR 2 0 0 0 2
SUN5 1 1 0 0 2
SURF1 2 0 0 0 2
SZT2 0 0 2 0 2
TBL1XR1 0 2 0 0 2
TBR1 1 1 0 0 2
TBX5 1 0 1 0 2
TCTN2 2 0 0 0 2
TG 2 0 0 0 2
TH 1 1 0 0 2
THRB 1 0 1 0 2
TJP2 0 1 1 0 2
TLK2 1 1 0 0 2
TMEM126B 0 2 0 0 2
TONSL 0 2 0 0 2
TP63 1 1 0 0 2
TRIOBP 1 1 0 0 2
TRIP13 0 1 1 0 2
TRRAP 0 1 1 0 2
TSFM 0 0 2 0 2
TSHR 2 0 0 0 2
TSPAN12 1 0 1 0 2
TUBB3 0 1 1 0 2
VDR 2 0 0 0 2
VPS33B 0 1 1 0 2
WAC 1 1 0 0 2
WDR19 0 1 1 0 2
WT1 2 0 0 0 2
ZBTB20 0 2 0 0 2
ZC4H2 1 1 0 0 2
ZEB2 1 1 0 0 2
ZMPSTE24 1 1 0 0 2
ZMYM2 1 0 1 0 2
ZNF462 1 1 0 0 2
ABCA12, SNHG31 0 0 1 0 1
ABCA3 1 0 0 0 1
ABCB11 0 1 0 0 1
ACAD8 1 0 0 0 1
ACTG1, LOC130061940 0 1 0 0 1
ACTG2 1 0 0 0 1
ACTL6B 0 1 0 0 1
ACTL7A 0 1 0 0 1
ACTN1 0 0 1 0 1
ADA 1 0 0 0 1
ADAM10 0 0 1 0 1
ADAM22 0 0 1 0 1
ADAM9 0 1 0 0 1
ADAR 1 0 0 0 1
ADAR, LOC126805874 0 0 1 0 1
ADGRG2 0 0 1 0 1
ADSL 0 1 0 0 1
AEBP1 0 1 0 0 1
AFF4 0 1 0 0 1
AFG2A 0 1 0 0 1
AFG3L2 1 0 0 0 1
AGRN 0 0 1 0 1
AICDA 0 1 0 0 1
AIP 0 1 0 0 1
AK2 0 1 0 0 1
AK7 0 0 1 0 1
ALAS2 0 0 1 0 1
ALAS2, LOC108663984 0 0 1 0 1
ALDOB 1 0 0 0 1
ALG1 0 1 0 0 1
ALOX12B, LOC130060196 0 0 1 0 1
AMH 0 1 0 0 1
ANK2 0 1 0 0 1
ANKRD17 0 1 0 0 1
ANO10 0 1 0 0 1
ANO3 0 0 1 0 1
AOPEP 1 0 0 0 1
AP2M1 0 1 0 0 1
AP5Z1 0 1 0 0 1
APC2 0 1 0 0 1
APP 0 1 0 0 1
AQP2, AQP5 1 0 0 0 1
ARFGEF1 0 0 1 0 1
ARHGEF9 0 1 0 0 1
ARV1 0 1 0 0 1
ARX, LOC109610631 1 0 0 0 1
ASNS, CZ1P-ASNS 0 1 0 0 1
ASPA, SPATA22 1 0 0 0 1
ASPH 1 0 0 0 1
ASTN2, TRIM32 0 0 1 0 1
ATIC 0 1 0 0 1
ATL1 0 0 1 0 1
ATP2A2 0 1 0 0 1
ATP2B1 0 0 1 0 1
ATP2B2 0 1 0 0 1
ATP2C1 0 1 0 0 1
ATP6AP2 0 0 1 0 1
ATP6V1B2 0 0 1 0 1
ATP8B1 0 0 1 0 1
AUH 0 1 0 0 1
B3GALT6 0 1 0 0 1
B3GLCT 0 1 0 0 1
B4GALNT1 1 0 0 0 1
B9D1 0 1 0 0 1
BBS1 0 1 0 0 1
BBS10 0 0 1 0 1
BBS9 0 0 1 0 1
BCL11B 0 1 0 0 1
BCL2L2-PABPN1, PABPN1 0 0 1 0 1
BCOR 0 1 0 0 1
BEST1, FTH1 1 0 0 0 1
BICD2 0 0 1 0 1
BICRA 0 0 1 0 1
BIVM-ERCC5, ERCC5 0 1 0 0 1
BLK, LOC126860303 0 0 1 0 1
BLOC1S1-RDH5, RDH5 1 0 0 0 1
BMPR1A 0 1 0 0 1
BPTF 0 1 0 0 1
BTD 1 0 0 0 1
C10orf105, CDH23 0 0 1 0 1
C17orf107, CHRNE 0 1 0 0 1
C6 1 0 0 0 1
C9 1 0 0 0 1
CACNA1A, LOC126862864 1 0 0 0 1
CACNA1F 0 1 0 0 1
CACNA1I 0 0 1 0 1
CACNB2 0 0 1 0 1
CALR 1 0 0 0 1
CAMK2B 1 0 0 0 1
CARD9 0 1 0 0 1
CASD1, SGCE 0 1 0 0 1
CASQ2 0 0 1 0 1
CBL 0 1 0 0 1
CCBE1 0 1 0 0 1
CCDC39 0 1 0 0 1
CCN6 0 1 0 0 1
CCNH, RASA1 1 0 0 0 1
CD40LG 0 0 1 0 1
CDC42 0 1 0 0 1
CDC73 0 1 0 0 1
CDK13 0 1 0 0 1
CDK13, LOC129998292 0 1 0 0 1
CDKN1B 0 1 0 0 1
CEL 0 0 1 0 1
CENPF 0 1 0 0 1
CEP120 0 1 0 0 1
CEP152 0 0 1 0 1
CEP290, RLIG1 1 0 0 0 1
CEP85L, PLN 0 1 0 0 1
CFAP410 0 1 0 0 1
CFAP43 0 1 0 0 1
CFTR, LOC111674463 0 1 0 0 1
CFTR, LOC111674477 0 0 1 0 1
CHCHD10 1 0 0 0 1
CHD5 0 1 0 0 1
CHD7, LOC126860403 0 1 0 0 1
CHM 1 0 0 0 1
CHMP1A 0 1 0 0 1
CHN1 0 0 1 0 1
CHRNA4 0 0 1 0 1
CHRNB2 0 0 1 0 1
CHRND 0 1 0 0 1
CHRNG, TIGD1 0 1 0 0 1
CHST6 0 1 0 0 1
CLASP1, RNU4ATAC 1 0 0 0 1
CLCN2 0 0 1 0 1
CLDN16 0 1 0 0 1
CLMP 0 1 0 0 1
CLN8 0 1 0 0 1
CLRN1 0 0 1 0 1
CLRN2 0 0 1 0 1
CLTC, LOC126862609 0 1 0 0 1
CNGA1, LOC101927157 1 0 0 0 1
CNNM2 0 0 1 0 1
CNPY3, CNPY3-GNMT 0 1 0 0 1
COG8 0 1 0 0 1
COL11A1, LOC126805814 0 0 1 0 1
COL11A2 0 0 1 0 1
COL5A2 0 1 0 0 1
COLQ 0 1 0 0 1
COQ4 1 0 0 0 1
COX20, LOC129932912 1 0 0 0 1
CPAMD8 0 1 0 0 1
CPSF1 0 0 1 0 1
CREB3L1 1 0 0 0 1
CRPPA 0 0 1 0 1
CRTAP 1 0 0 0 1
CRYAA 1 0 0 0 1
CRYBA1 1 0 0 0 1
CRYBA4 0 0 1 0 1
CRYGD, LOC100507443 0 1 0 0 1
CSRP3 0 0 1 0 1
CTNNB1 1 0 0 0 1
CTNNB1, LOC126806658 0 1 0 0 1
CTNS 1 0 0 0 1
CTSA 1 0 0 0 1
CTSD 1 0 0 0 1
CUL4B 1 0 0 0 1
CUX2 1 0 0 0 1
CYBA 0 1 0 0 1
CYBB 0 1 0 0 1
CYP11B1, LOC106799833 0 1 0 0 1
CYP21A2, LOC106780800, TNXB 1 0 0 0 1
CYP27B1 0 1 0 0 1
CYP2U1, LOC129992929 0 1 0 0 1
DAP3, YY1AP1 0 1 0 0 1
DCDC2 1 0 0 0 1
DGKE 1 0 0 0 1
DHCR7 1 0 0 0 1
DHDDS 1 0 0 0 1
DHX30 0 0 1 0 1
DHX37 0 0 1 0 1
DIAPH1 0 0 1 0 1
DICER1 1 0 0 0 1
DLG3 1 0 0 0 1
DLG4 0 1 0 0 1
DLX5, LOC126860116 0 0 1 0 1
DNAAF3 0 0 1 0 1
DNAH17 0 1 0 0 1
DNAH2 0 0 1 0 1
DNAJC5 0 0 1 0 1
DNM1 0 0 1 0 1
DNM1L 0 1 0 0 1
DOCK7 0 1 0 0 1
DONSON 0 1 0 0 1
DOP1A, PGM3 0 0 1 0 1
DPAGT1 0 1 0 0 1
DPF2 0 0 1 0 1
DPH1 0 0 1 0 1
DPYD 0 1 0 0 1
DPYSL5 0 0 1 0 1
DSC2 0 1 0 0 1
DSG1, DSG4 1 0 0 0 1
EBP 1 0 0 0 1
EDAR, RANBP2 0 1 0 0 1
EFNB1 1 0 0 0 1
EHMT1 0 0 1 0 1
EIF2B1 0 1 0 0 1
EIF2B2 1 0 0 0 1
ELAC2 0 1 0 0 1
ELANE 0 1 0 0 1
ELN 0 1 0 0 1
ENG, LOC102723566 0 1 0 0 1
EP300 1 0 0 0 1
EPHA2 1 0 0 0 1
ERCC6, LOC126860933 0 0 1 0 1
ERF 1 0 0 0 1
EVC2, LOC126806961 1 0 0 0 1
EZH2 1 0 0 0 1
F13B 0 1 0 0 1
FAHD1, MEIOB 0 1 0 0 1
FAN1 0 1 0 0 1
FANCB, GLRA2 0 0 1 0 1
FANCG 1 0 0 0 1
FANCL 0 1 0 0 1
FARSB 0 1 0 0 1
FASTKD2, LOC126806484 1 0 0 0 1
FBLN1 0 0 1 0 1
FBP1 1 0 0 0 1
FBXO11 0 0 1 0 1
FBXO11, MSH6 0 1 0 0 1
FBXO7 0 1 0 0 1
FBXW11 0 1 0 0 1
FERRY3 1 0 0 0 1
FGD1 0 1 0 0 1
FGF17 0 0 1 0 1
FHOD3 0 0 1 0 1
FIG4 0 1 0 0 1
FIGLA 0 0 1 0 1
FKBP14 0 0 1 0 1
FKRP 1 0 0 0 1
FLAD1 1 0 0 0 1
FMO3, LOC126805916 1 0 0 0 1
FOXC2 0 1 0 0 1
FOXF1 0 1 0 0 1
FOXG1 1 0 0 0 1
FRAS1, LOC126807089 0 1 0 0 1
FREM2 0 1 0 0 1
FZD4, PRSS23 0 1 0 0 1
G6PD, IKBKG 1 0 0 0 1
GABRA1 1 0 0 0 1
GABRA5 0 0 1 0 1
GALE 0 1 0 0 1
GAMT 1 0 0 0 1
GANAB 0 0 1 0 1
GATAD2B 0 1 0 0 1
GBA1 0 0 1 0 1
GCDH, LOC126862860, SYCE2 1 0 0 0 1
GCH1, LOC130055692 0 1 0 0 1
GDAP1 0 1 0 0 1
GDI1 0 0 1 0 1
GH-LCR, GH1 0 0 1 0 1
GIPC3 0 1 0 0 1
GJA1 0 0 1 0 1
GJA3 0 0 1 0 1
GJB3 0 0 1 0 1
GJB6 0 0 1 0 1
GMNN 0 0 1 0 1
GNAO1 1 0 0 0 1
GNAT2 0 1 0 0 1
GNRHR 0 1 0 0 1
GPC3 1 0 0 0 1
GPHN, RDH12 1 0 0 0 1
GPHN, RDH12, ZFYVE26 0 1 0 0 1
GPI 0 1 0 0 1
GRIA1 0 1 0 0 1
GRIA4 0 0 1 0 1
GUSB 0 0 1 0 1
GYS2 0 1 0 0 1
H1-4 0 0 1 0 1
HBA-LCR, NPRL3 0 1 0 0 1
HBB, LOC107133510, LOC110006319 1 0 0 0 1
HCN1 0 1 0 0 1
HEXB 0 1 0 0 1
HJV 1 0 0 0 1
HK1 0 0 1 0 1
HKDC1, LOC101928994 0 1 0 0 1
HMCN1 0 0 1 0 1
HMOX1 0 1 0 0 1
HNRNPDL 0 0 1 0 1
HOXD13 1 0 0 0 1
HPRT1 0 0 1 0 1
HPS4 0 1 0 0 1
HPS5 0 1 0 0 1
HSD17B10 0 1 0 0 1
HSD3B7 1 0 0 0 1
HSPB1 0 0 1 0 1
HSPG2 0 1 0 0 1
HUWE1 0 0 1 0 1
IDS 1 0 0 0 1
IDS, LOC106050102 0 1 0 0 1
IDUA, SLC26A1 0 0 1 0 1
IFITM5, PGGHG 1 0 0 0 1
IFT122 0 1 0 0 1
IHH 0 0 1 0 1
IKBKG 1 0 0 0 1
IL1RAPL1 0 0 1 0 1
IL2RG 1 0 0 0 1
IMPDH1 0 0 1 0 1
INF2 1 0 0 0 1
INS, INS-IGF2 1 0 0 0 1
INSL6, JAK2 1 0 0 0 1
INVS 0 1 0 0 1
IQCN 0 0 1 0 1
IRAK1BP1, PHIP 0 1 0 0 1
ITGA8 0 1 0 0 1
ITGB3 1 0 0 0 1
ITPA 1 0 0 0 1
ITPR1 0 0 1 0 1
KAT8 0 1 0 0 1
KCNA1 0 1 0 0 1
KCNC1 0 0 1 0 1
KCNJ2 1 0 0 0 1
KCNJ5 0 0 1 0 1
KCNN2 0 0 1 0 1
KCNQ3 0 0 1 0 1
KCNQ5 1 0 0 0 1
KCNQ5, KCNQ5-DT, LOC129996711 0 0 1 0 1
KCNT1 1 0 0 0 1
KDM3B 0 0 1 0 1
KDM4B 0 1 0 0 1
KDM6B 1 0 0 0 1
KDSR 0 1 0 0 1
KIDINS220 0 0 1 0 1
KIF21A 1 0 0 0 1
KIF5A 0 0 1 0 1
KIFBP 0 1 0 0 1
KIRREL2, NPHS1 1 0 0 0 1
KISS1 0 1 0 0 1
KLHL15 0 0 1 0 1
KLKB1 1 0 0 0 1
KPNA3 0 0 1 0 1
KRT14 0 1 0 0 1
KRT17 1 0 0 0 1
KRT5, LOC126861525 0 0 1 0 1
LALTOP, LOC126806104, TPO 0 1 0 0 1
LAMA1, LOC126862685 0 1 0 0 1
LAMP2 1 0 0 0 1
LARS2 0 1 0 0 1
LBR 1 0 0 0 1
LDB3 0 0 1 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 0 1
LMAN1 1 0 0 0 1
LMBR1, ZRS 0 1 0 0 1
LMF1 0 1 0 0 1
LOC107303340, VHL 1 0 0 0 1
LOC107372315, OSGEP 1 0 0 0 1
LOC107648851, TAP2 0 1 0 0 1
LOC110011216, PHOX2B 1 0 0 0 1
LOC111811965, MIR4733HG, NF1 0 0 1 0 1
LOC112840921, OTOF 1 0 0 0 1
LOC114803470, SCN8A 0 1 0 0 1
LOC126806373, NEB 0 0 1 0 1
LOC126806424, TTN 0 1 0 0 1
LOC126806427, TTN 0 1 0 0 1
LOC126859646, VARS2 0 1 0 0 1
LOC126859651, VARS1 0 1 0 0 1
LOC126860395, PLAG1 0 1 0 0 1
LOC126860794, NOTCH1 0 0 1 0 1
LOC126861318, MMP13 1 0 0 0 1
LOC126861615, PAH 1 0 0 0 1
LOC126862500, MYH2, MYHAS 0 1 0 0 1
LOC126863137, MYH9 0 0 1 0 1
LOC129933155, NBAS 0 1 0 0 1
LOC129934333, TMEM127 1 0 0 0 1
LOC129998295, MPLKIP 0 1 0 0 1
LOC129998833, SLC25A13 0 0 1 0 1
LOC130002133, PTCH1 0 1 0 0 1
LOC130006029, LTBP3 0 1 0 0 1
LOC130006765, PTS 0 0 1 0 1
LOC130006841, MPZL2 0 1 0 0 1
LOC130055718, TMEM260 0 1 0 0 1
LOC130056973, SPG11 0 0 1 0 1
LOC130064709, OPA3 0 0 1 0 1
LOC130065345, PANK2 0 1 0 0 1
LOC130065433, NDUFAF5 0 1 0 0 1
LOC130068032, RPS6KA3 0 0 1 0 1
LRP6 0 0 1 0 1
LRPPRC 0 1 0 0 1
LRRC37A2, NSF 1 0 0 0 1
LURAP1L, TYRP1 0 1 0 0 1
MACF1 0 0 1 0 1
MAFA 0 0 1 0 1
MAGED2 0 0 1 0 1
MAK 0 1 0 0 1
MAMLD1 0 0 1 0 1
MAN1B1 0 1 0 0 1
MAN2B1 0 1 0 0 1
MANBA 0 1 0 0 1
MAP2K2 1 0 0 0 1
MAPK8IP3 0 0 1 0 1
MAPKBP1 0 0 1 0 1
MAST3 1 0 0 0 1
MBD5 0 1 0 0 1
MCCC2 1 0 0 0 1
MCM9 1 0 0 0 1
MCPH1 0 1 0 0 1
MDFIC 0 0 1 0 1
MED23 0 1 0 0 1
MED25 0 0 1 0 1
MEFV 1 0 0 0 1
MEGF8 0 1 0 0 1
MICU1 0 1 0 0 1
MID1 1 0 0 0 1
MIR1225, PKD1 0 1 0 0 1
MIR3661, PPP2CA 0 1 0 0 1
MMAA 1 0 0 0 1
MMAB 0 1 0 0 1
MMP2 0 1 0 0 1
MPDU1 0 1 0 0 1
MRAS 0 0 1 0 1
MRE11 0 0 1 0 1
MSH3 0 1 0 0 1
MSL3 0 1 0 0 1
MTO1 0 1 0 0 1
MVD 1 0 0 0 1
MVK 1 0 0 0 1
MYCN 1 0 0 0 1
MYH6 0 0 1 0 1
MYH9 1 0 0 0 1
MYL2 0 0 1 0 1
MYL3 0 1 0 0 1
MYL4 0 0 1 0 1
MYO5B, SNHG22 0 1 0 0 1
NANOS1 0 0 1 0 1
NCF2 0 1 0 0 1
NDUFAF5 0 1 0 0 1
NDUFB11 0 1 0 0 1
NDUFS1 1 0 0 0 1
NEK9 1 0 0 0 1
NEMF 0 0 1 0 1
NEXMIF 0 1 0 0 1
NFIB 0 1 0 0 1
NKAP 0 1 0 0 1
NKIRAS1, RPL15 0 0 1 0 1
NKX6-2 0 1 0 0 1
NLGN3 0 0 1 0 1
NLGN4X 0 0 1 0 1
NLRP12 0 0 1 0 1
NODAL 0 1 0 0 1
NOTCH2 0 0 1 0 1
NOVA2 0 0 1 0 1
NPHP3-ACAD11, UBA5 0 0 1 0 1
NPR2 0 0 1 0 1
NPRL2 0 0 1 0 1
NR2E3 0 0 1 0 1
NR2F1 0 1 0 0 1
NSD2 1 0 0 0 1
NSUN2 0 1 0 0 1
NTRK1 0 1 0 0 1
NUP188 0 1 0 0 1
NUS1 0 1 0 0 1
NYX 0 0 1 0 1
OCRL 0 1 0 0 1
OGT 0 0 1 0 1
OPA1 0 1 0 0 1
OPA3 0 0 1 0 1
OPN1LW 0 0 1 0 1
ORC6 0 1 0 0 1
OSGEP 0 1 0 0 1
OTOA 0 0 1 0 1
OTOG 0 1 0 0 1
OTX2 0 1 0 0 1
P3H2 0 1 0 0 1
PACS2 1 0 0 0 1
PAFAH1B1 0 1 0 0 1
PAK1 0 1 0 0 1
PANX1 0 0 1 0 1
PBX1 0 1 0 0 1
PCCB 0 1 0 0 1
PCDH12, RNF14 0 1 0 0 1
PCDH19 1 0 0 0 1
PCGF2 1 0 0 0 1
PDE6B 0 1 0 0 1
PDHA1 1 0 0 0 1
PDHX 0 1 0 0 1
PDX1 0 0 1 0 1
PDZD7 0 1 0 0 1
PEX2 0 1 0 0 1
PGK1 0 0 1 0 1
PGM1 1 0 0 0 1
PGM3 0 0 1 0 1
PHF21A 0 1 0 0 1
PHF8 0 1 0 0 1
PHGDH 0 1 0 0 1
PHIP 0 1 0 0 1
PI4KA, SERPIND1 0 0 1 0 1
PIEZO2 0 1 0 0 1
PIGN 0 1 0 0 1
PIK3CD 0 0 1 0 1
PIK3R1 1 0 0 0 1
PITPNM3 0 0 1 0 1
PITRM1 1 0 0 0 1
PITX2 0 1 0 0 1
PKD1L1 0 1 0 0 1
PLCB4 0 1 0 0 1
PLEKHG2 1 0 0 0 1
PLG 0 1 0 0 1
PLS1 0 0 1 0 1
PMVK 0 0 1 0 1
PNPLA6 0 1 0 0 1
POLA1 0 0 1 0 1
POLE 0 1 0 0 1
POLR1B 0 0 1 0 1
POLR1C 0 1 0 0 1
POLR2F, SOX10 0 0 1 0 1
POLR3A 0 1 0 0 1
PORCN 1 0 0 0 1
POU3F3 0 0 1 0 1
PPM1D 1 0 0 0 1
PPP2R1A 0 1 0 0 1
PPP2R5D 0 1 0 0 1
PQBP1 1 0 0 0 1
PREPL 0 1 0 0 1
PRF1 0 1 0 0 1
PRKACB 0 0 1 0 1
PRKAG2 0 0 1 0 1
PRODH 0 1 0 0 1
PROP1 0 1 0 0 1
PRPF8 1 0 0 0 1
PRPH, TROAP 0 0 1 0 1
PSEN1 0 0 1 0 1
PSTPIP1 1 0 0 0 1
PTCHD1 0 0 1 0 1
PTHLH 0 1 0 0 1
PTPN23 0 1 0 0 1
PUF60 0 1 0 0 1
PYGL 0 1 0 0 1
RAD21 1 0 0 0 1
RARS2 0 1 0 0 1
RBM10 0 1 0 0 1
REEP1 1 0 0 0 1
RELN, SLC26A5 0 0 1 0 1
RFT1 0 1 0 0 1
RGS9 0 1 0 0 1
RIMS2 0 1 0 0 1
RLBP1 1 0 0 0 1
ROBO4 0 0 1 0 1
RPGRIP1 0 1 0 0 1
RPL10 0 0 1 0 1
RPS19 1 0 0 0 1
RSPH4A 0 1 0 0 1
RSPH9 0 1 0 0 1
RXYLT1 0 1 0 0 1
SAG 0 1 0 0 1
SALL4 0 1 0 0 1
SAMD9 0 0 1 0 1
SAMD9L 0 1 0 0 1
SCN11A 1 0 0 0 1
SDHD 0 1 0 0 1
SDR9C7 0 0 1 0 1
SEC61A1 0 0 1 0 1
SEMA3A 0 0 1 0 1
SEPTIN12 0 0 1 0 1
SERPINA1 1 0 0 0 1
SF3B2 1 0 0 0 1
SF3B4 1 0 0 0 1
SFTPA2 0 1 0 0 1
SFXN4 0 1 0 0 1
SGCG 0 1 0 0 1
SHH 0 1 0 0 1
SHOX 0 0 1 0 1
SIN3A 0 1 0 0 1
SIX3 0 1 0 0 1
SKIC2 1 0 0 0 1
SLC12A2 0 0 1 0 1
SLC12A6 0 0 1 0 1
SLC22A12 0 1 0 0 1
SLC24A1 0 1 0 0 1
SLC25A15 0 1 0 0 1
SLC25A4 0 0 1 0 1
SLC26A3 1 0 0 0 1
SLC26A8 0 0 1 0 1
SLC29A3 0 1 0 0 1
SLC2A1 1 0 0 0 1
SLC34A2 1 0 0 0 1
SLC37A4 0 0 1 0 1
SLC39A5 0 1 0 0 1
SLC3A1 1 0 0 0 1
SLC40A1 0 1 0 0 1
SLC4A11 0 0 1 0 1
SLC7A7 1 0 0 0 1
SLC7A9 0 1 0 0 1
SLC9A6 1 0 0 0 1
SLCO1B1 1 0 0 0 1
SMAD3 0 1 0 0 1
SMAD9 0 1 0 0 1
SMARCA2 0 1 0 0 1
SMARCAL1 1 0 0 0 1
SMC1A 0 1 0 0 1
SMPD1 0 1 0 0 1
SNORD118, TMEM107 0 1 0 0 1
SORD 1 0 0 0 1
SOX2, SOX2-OT 0 1 0 0 1
SOX9 0 1 0 0 1
SPATA16 0 0 1 0 1
SPEF2 1 0 0 0 1
SPEN 0 1 0 0 1
SPTBN2 0 1 0 0 1
SPTBN4 0 1 0 0 1
SQSTM1 0 1 0 0 1
SSR4 1 0 0 0 1
STAG1 1 0 0 0 1
STAT3 1 0 0 0 1
STT3A 0 0 1 0 1
STUB1 1 0 0 0 1
SYT1 0 1 0 0 1
TAF1 0 0 1 0 1
TAF4 0 1 0 0 1
TBCD 0 1 0 0 1
TBCE 0 1 0 0 1
TBX3 0 1 0 0 1
TCAP 1 0 0 0 1
TCN2 0 1 0 0 1
TDRD7 0 0 1 0 1
TEX14 0 0 1 0 1
TFR2 0 1 0 0 1
TGM6 0 0 1 0 1
TLE6 0 1 0 0 1
TMEM127 0 1 0 0 1
TMEM216 0 1 0 0 1
TMEM67 1 0 0 0 1
TMLHE 0 0 1 0 1
TNC 0 0 1 0 1
TNNI2 1 0 0 0 1
TNNT3 1 0 0 0 1
TNXB 0 1 0 0 1
TOP3A 0 1 0 0 1
TPM3 0 1 0 0 1
TPO 0 1 0 0 1
TPP1 1 0 0 0 1
TPRN 1 0 0 0 1
TRAPPC11 1 0 0 0 1
TRIP11 1 0 0 0 1
TRMU 1 0 0 0 1
TRNT1 0 0 1 0 1
TRPM1 1 0 0 0 1
TRPM3 1 0 0 0 1
TRPM4 0 0 1 0 1
TRPM6 1 0 0 0 1
TRPS1 0 0 1 0 1
TRPV4 0 0 1 0 1
TSEN2 0 1 0 0 1
TTBK2 0 0 1 0 1
TTC29 0 1 0 0 1
TTPA 0 1 0 0 1
TUBB 0 1 0 0 1
TUBB1 0 1 0 0 1
TUBB4B 1 0 0 0 1
TUBG1 0 0 1 0 1
TUBGCP6 0 1 0 0 1
TUSC3 0 1 0 0 1
TWNK 0 1 0 0 1
UBE3B 0 1 0 0 1
UBR1 0 1 0 0 1
USH1G 0 1 0 0 1
USP53 1 0 0 0 1
USP7 0 0 1 0 1
USP9X 0 1 0 0 1
VANGL1 0 0 1 0 1
VARS1 0 1 0 0 1
VCL 0 0 1 0 1
VPS13C 0 1 0 0 1
VPS16 0 1 0 0 1
VRK1 1 0 0 0 1
VWA1 1 0 0 0 1
WBP11 0 0 1 0 1
WDFY3 0 1 0 0 1
WDPCP 0 1 0 0 1
WDR72 0 1 0 0 1
WEE2 1 0 0 0 1
WHRN 1 0 0 0 1
WNT10A 1 0 0 0 1
WNT10B 0 1 0 0 1
XRCC4 0 1 0 0 1
YARS1 0 1 0 0 1
YY1 0 0 1 0 1
ZEB1 0 0 1 0 1
ZFP36L2 0 1 0 0 1
ZMIZ1 0 1 0 0 1
ZMYND10 1 0 0 0 1
ZNF142 0 1 0 0 1
ZNF148 0 0 1 0 1
ZNF292 0 1 0 0 1
ZNF644 0 0 0 1 1
ZSWIM6 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 1679
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
Polycystic kidney disease, adult type 218 42 94 0 354
Neurofibromatosis, type 1 79 29 7 0 115
Hypercholesterolemia, familial, 1 29 25 3 0 57
Phenylketonuria 46 8 3 0 57
Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 28 16 7 0 51
Dilated cardiomyopathy 1G 10 38 1 0 49
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 5 41 0 0 46
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Familial prostate cancer 24 11 0 0 35
Polycystic kidney disease 2 25 4 6 0 35
Marfan syndrome 17 16 1 0 34
Wilson disease 20 8 6 0 34
Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 18 4 2 0 24
Dermatitis, atopic, 2; Ichthyosis vulgaris 7 16 1 0 24
Autosomal recessive nonsyndromic hearing loss 3 6 9 8 0 23
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 17 2 3 0 22
Familial hypokalemia-hypomagnesemia 18 2 2 0 22
Polycystic kidney disease 4 13 3 6 0 22
Thyroid dyshormonogenesis 6 15 7 0 0 22
Hypertrophic cardiomyopathy 4 8 10 2 0 20
Asphyxiating thoracic dystrophy 3 8 5 6 0 19
Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 10 6 2 0 18
Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B 15 2 0 0 17
Tuberous sclerosis 2 10 6 1 0 17
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 3 5 8 0 16
Usher syndrome type 2A; Retinitis pigmentosa 39 13 2 1 0 16
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 8 6 1 0 15
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 4 4 7 0 15
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 2 7 6 0 15
Autosomal recessive nonsyndromic hearing loss 1A 12 1 1 0 14
Breast-ovarian cancer, familial, susceptibility to, 1 11 3 0 0 14
Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 10 4 0 0 14
Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 12 1 1 0 14
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 9 5 0 0 14
X-linked Alport syndrome 4 5 5 0 14
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Stickler syndrome, type I, nonsyndromic ocular; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloepimetaphyseal dysplasia, Strudwick type 5 4 4 0 13
Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 5 2 6 0 13
Autosomal recessive Alport syndrome; Hematuria, benign familial, 1 1 7 5 0 13
Familial cancer of breast; Ataxia-telangiectasia syndrome 3 9 1 0 13
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 2 6 4 0 12
Familial cancer of breast 6 6 0 0 12
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 8 1 3 0 12
Noonan syndrome 1 10 2 0 0 12
Arrhythmogenic right ventricular dysplasia 9 6 4 1 0 11
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 0 4 7 0 11
Hypertrophic cardiomyopathy 1 2 8 1 0 11
Sotos syndrome 6 5 0 0 11
Tyrosinase-positive oculocutaneous albinism 8 0 3 0 11
Dubin-Johnson syndrome 5 3 2 0 10
Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 7 3 0 0 10
MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome 6 1 3 0 10
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 8 1 1 0 10
Microcephaly 5, primary, autosomal recessive 7 2 1 0 10
Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 8 2 0 0 10
Oocyte maturation defect 2 0 3 7 0 10
Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 3 4 3 0 10
Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 5 4 0 0 9
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II; Gilbert syndrome 1 1 7 0 9
Cobalamin C disease 7 1 1 0 9
Lynch syndrome 4 3 5 1 0 9
Malignant hyperthermia, susceptibility to, 1 4 5 0 0 9
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 0 7 2 0 9
Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 5 1 3 0 9
Wiedemann-Steiner syndrome 5 3 1 0 9
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 5 1 2 0 8
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2 4 2 0 8
Atrial fibrillation, familial, 3; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2 4 4 0 0 8
Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 1 3 4 0 8
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 5 2 1 0 8
Epilepsy, familial focal, with variable foci 1 3 2 3 0 8
Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to factor 8 defect 1 5 2 0 8
Hereditary factor XI deficiency disease 4 2 2 0 8
Hereditary spherocytosis type 1 7 1 0 0 8
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 1 4 3 0 8
Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 4 3 1 0 8
Nemaline myopathy 2 6 0 2 0 8
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 2 5 1 0 8
Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due to protein S deficiency, autosomal recessive 1 4 3 0 8
Autosomal recessive nonsyndromic hearing loss 9 3 3 1 0 7
Cornelia de Lange syndrome 1 6 0 1 0 7
Developmental and epileptic encephalopathy 94 2 5 0 0 7
Exostoses, multiple, type 2 5 2 0 0 7
Familial X-linked hypophosphatemic vitamin D refractory rickets 5 2 0 0 7
Hepatic methionine adenosyltransferase deficiency 1 3 3 0 7
Hypercholesterolemia, autosomal dominant, type B 2 5 0 0 7
Intellectual disability, X-linked 102 0 4 3 0 7
KBG syndrome 5 2 0 0 7
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 5 2 0 0 7
Lewy body dementia; Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease perinatal lethal; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Parkinson disease, late-onset 4 2 1 0 7
Long QT syndrome 1 1 6 0 0 7
Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD deficiency 4 3 0 0 7
Multiple acyl-CoA dehydrogenase deficiency 6 1 0 0 7
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type; Osteoporosis; Ehlers-Danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 3 4 0 0 7
Primary ciliary dyskinesia 3 3 1 3 0 7
Renal carnitine transport defect 2 3 2 0 7
Retinitis pigmentosa 25 5 0 2 0 7
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis 3 2 2 0 7
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 3 1 3 0 7
Treacher Collins syndrome 1 7 0 0 0 7
Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 3 2 2 0 7
X-linked chondrodysplasia punctata 1 2 1 4 0 7
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 5 1 0 0 6
Adrenoleukodystrophy 1 4 1 0 6
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 1 5 0 0 6
Autosomal recessive congenital ichthyosis 2 2 1 3 0 6
Bietti crystalline corneoretinal dystrophy 4 0 2 0 6
Blepharophimosis, ptosis, and epicanthus inversus syndrome; Premature ovarian failure 3 2 3 1 0 6
Breast-ovarian cancer, familial, susceptibility to, 5 3 3 0 0 6
CHARGE syndrome 5 1 0 0 6
Cohen syndrome 4 1 1 0 6
Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach 4 2 0 0 6
Ehlers-Danlos syndrome, type 4 0 6 0 0 6
Ellis-van Creveld syndrome 3 3 0 0 6
Endometrial carcinoma; Lynch syndrome 5; Mismatch repair cancer syndrome 3 3 3 0 0 6
Female infertility due to zona pellucida defect 4 0 2 0 6
Glutaric aciduria, type 1 6 0 0 0 6
Glycogen storage disease, type II 4 2 0 0 6
Hereditary antithrombin deficiency 2 1 3 0 6
Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2 4 0 0 6
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 3 3 0 0 6
Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2B; Autosomal recessive Parkinson disease 14 5 1 0 0 6
Intellectual disability, autosomal dominant 14 1 3 2 0 6
Intellectual disability, autosomal dominant 5 5 1 0 0 6
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 4 2 0 0 6
Isovaleryl-CoA dehydrogenase deficiency 2 3 1 0 6
Kabuki syndrome 2 5 0 1 0 6
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 4 1 1 0 6
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 1 4 1 0 6
Neurofibromatosis, type 2 3 2 1 0 6
Oocyte maturation defect 4 1 1 4 0 6
Peutz-Jeghers syndrome 3 2 1 0 6
Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa 2 3 1 0 6
Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 3 3 0 0 6
Smith-Magenis syndrome 3 2 1 0 6
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 5 0 0 5
Amyloidosis, hereditary systemic 1 2 3 0 0 5
Aortic valve disease 1; Adams-Oliver syndrome 5 0 1 4 0 5
Autosomal dominant nonsyndromic hearing loss 22; Autosomal recessive nonsyndromic hearing loss 37 0 1 4 0 5
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 2 3 0 0 5
Autosomal recessive bestrophinopathy; Vitelliform macular dystrophy 2; Autosomal dominant vitreoretinochoroidopathy; Retinitis pigmentosa 50 1 2 2 0 5
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 1 2 2 0 5
Autosomal recessive nonsyndromic hearing loss 77 0 4 1 0 5
Autosomal recessive nonsyndromic hearing loss 7; Autosomal dominant nonsyndromic hearing loss 36 0 1 4 0 5
Basal cell nevus syndrome 1 2 3 0 0 5
Beta-thalassemia HBB/LCRB 5 0 0 0 5
Breast-ovarian cancer, familial, susceptibility to, 2 4 1 0 0 5
Brugada syndrome 1; Long QT syndrome 3; Dilated cardiomyopathy 1E 1 4 0 0 5
CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 1 1 3 0 5
Cardiomyopathy, familial hypertrophic 27 2 2 1 0 5
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99 2 2 1 0 5
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2 2 2 1 0 5
Charcot-Marie-Tooth disease X-linked dominant 1 2 3 0 0 5
Cholestanol storage disease 3 2 0 0 5
Congenital afibrinogenemia; Familial dysfibrinogenemia 2 1 2 0 5
Cowden syndrome 1 5 0 0 0 5
Deficiency of 2-methylbutyryl-CoA dehydrogenase 2 2 1 0 5
Deficiency of steroid 17-alpha-monooxygenase 1 3 1 0 5
Developmental delay with variable intellectual impairment and behavioral abnormalities 3 0 2 0 5
Elliptocytosis 3; Hereditary spherocytosis type 2 1 3 1 0 5
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 4 0 1 0 5
Familial cancer of breast; Fanconi anemia complementation group J 1 4 0 0 5
Finnish congenital nephrotic syndrome 3 1 1 0 5
Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 1 4 0 0 5
Hypertrophic cardiomyopathy 3; Dilated cardiomyopathy 1Y 0 2 3 0 5
Intellectual developmental disorder with autism and macrocephaly 1 4 0 0 5
Intellectual disability, autosomal dominant 52 1 1 3 0 5
LEOPARD syndrome 1 4 1 0 0 5
Long QT syndrome 2 1 4 0 0 5
Lymphatic malformation 7; Capillary malformation-arteriovenous malformation 2 1 3 1 0 5
Lynch syndrome 5 2 3 0 0 5
Medium-chain acyl-coenzyme A dehydrogenase deficiency 0 3 2 0 5
Metaphyseal chondrodysplasia, Schmid type 0 3 2 0 5
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 4 0 1 0 5
Neonatal intrahepatic cholestasis due to citrin deficiency; Citrullinemia, type II, adult-onset 4 0 1 0 5
Noonan syndrome 2; LZTR1-related schwannomatosis; Noonan syndrome 10 0 2 3 0 5
Polycystic liver disease 1 0 3 2 0 5
Severe early-childhood-onset retinal dystrophy 3 1 1 0 5
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3 4 1 0 0 5
Structural heart defects and renal anomalies syndrome 1 3 1 0 5
Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia due to protein C deficiency, autosomal dominant 1 4 0 0 5
Tuberous sclerosis 1 5 0 0 0 5
Usher syndrome type 2C; Febrile seizures, familial, 4 0 3 2 0 5
Warsaw breakage syndrome 2 2 1 0 5
Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome; Heyn-Sproul-Jackson syndrome 2 2 0 0 4
Adams-Oliver syndrome 2 0 3 1 0 4
Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Spondylocarpotarsal synostosis syndrome; Larsen syndrome 2 0 2 0 4
Autism spectrum disorder due to AUTS2 deficiency 2 2 0 0 4
Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 1 0 3 0 4
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2 2 0 0 4
Autosomal dominant nonsyndromic hearing loss 12; Autosomal recessive nonsyndromic hearing loss 21 0 1 3 0 4
Autosomal recessive congenital ichthyosis 4A; Autosomal recessive congenital ichthyosis 4B 2 0 2 0 4
Autosomal recessive nonsyndromic hearing loss 8 3 1 0 0 4
Blepharophimosis, ptosis, and epicanthus inversus syndrome 4 0 0 0 4
CTCF-related neurodevelopmental disorder 0 2 2 0 4
Carnitine palmitoyl transferase 1A deficiency 0 2 2 0 4
Cataract 1 multiple types 0 3 1 0 4
Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0 2 2 0 4
Chondrosarcoma; Exostoses, multiple, type 1 3 1 0 0 4
Citrullinemia type I 1 1 2 0 4
Classic homocystinuria 3 0 1 0 4
Cleidocranial dysostosis; Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2 2 0 0 4
Coffin-Siris syndrome 1 2 2 0 0 4
Combined oxidative phosphorylation deficiency 35 0 1 3 0 4
Congenital bilateral aplasia of vas deferens from CFTR mutation 0 1 3 0 4
Congenital contractural arachnodactyly 0 4 0 0 4
Congenital multicore myopathy with external ophthalmoplegia 1 3 0 0 4
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2 1 1 0 4
Congenital stationary night blindness 1E 0 3 1 0 4
Creatine transporter deficiency 3 0 1 0 4
Crouzon syndrome 4 0 0 0 4
DDX41-related hematologic malignancy predisposition syndrome 2 2 0 0 4
DYRK1A-related intellectual disability syndrome 1 3 0 0 4
Deficiency of butyryl-CoA dehydrogenase 3 1 0 0 4
Deficiency of butyrylcholinesterase 1 3 0 0 4
Developmental and epileptic encephalopathy, 2 1 1 2 0 4
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 3 1 0 4
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; Malaria, susceptibility to; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB 4 0 0 0 4
Donnai-Barrow syndrome 1 2 1 0 4
Familial adenomatous polyposis 1 1 3 0 0 4
Familial dysfibrinogenemia 2 2 0 0 4
Fanconi anemia complementation group A 1 1 2 0 4
Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3; Contractures, pterygia, and variable skeletal fusions syndrome 1B 2 0 2 0 4
GNE myopathy 0 3 1 0 4
Glomuvenous malformation 1 3 0 0 4
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 3 0 1 0 4
Hereditary factor VIII deficiency disease 1 0 3 0 4
Hereditary spastic paraplegia 4 2 2 0 0 4
Hereditary spastic paraplegia 56 1 2 1 0 4
Hereditary spherocytosis type 2 3 1 0 0 4
Hypertrophic cardiomyopathy 26 0 3 1 0 4
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 3 1 0 0 4
Intellectual disability, autosomal dominant 43 2 1 1 0 4
Intellectual disability, autosomal dominant 50 1 2 1 0 4
Intellectual disability, autosomal dominant 56 2 1 1 0 4
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 1 1 2 0 4
Joubert syndrome 5 4 0 0 0 4
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 1 3 0 4
Lamb-Shaffer syndrome 1 3 0 0 4
Lissencephaly type 1 due to doublecortin gene mutation 1 2 1 0 4
Loeys-Dietz syndrome 1 2 1 1 0 4
Lynch syndrome 4; Mismatch repair cancer syndrome 4 1 3 0 0 4
Macrocephaly-autism syndrome; Familial meningioma; Glioma susceptibility 2; Familial prostate cancer; Cowden syndrome 1 1 3 0 0 4
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 2 1 1 0 4
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 3 1 0 4
Noonan syndrome 2 1 3 0 0 4
Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2 1 1 0 4
Oculocutaneous albinism type 4 2 2 0 0 4
Oocyte maturation defect 6 0 1 3 0 4
Ornithine carbamoyltransferase deficiency 2 2 0 0 4
Orofacial cleft 6, susceptibility to; Van der Woude syndrome 1; Autosomal dominant popliteal pterygium syndrome 1 1 2 0 4
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Osteogenesis imperfecta type I 3 1 0 0 4
PMM2-congenital disorder of glycosylation 2 0 2 0 4
Pheochromocytoma/paraganglioma syndrome 5 1 3 0 0 4
Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome 1 0 3 0 4
Platelet-type bleeding disorder 10; Coronary heart disease, susceptibility to, 7; Malaria, susceptibility to 3 1 0 0 4
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal 1 2 1 0 4
Primary hyperoxaluria type 3 2 2 0 0 4
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 0 2 2 0 4
Recessive dystrophic epidermolysis bullosa 1 1 2 0 4
Retinitis pigmentosa 14; Leber congenital amaurosis 15 2 2 0 0 4
Retinitis pigmentosa 26 2 2 0 0 4
Rothmund-Thomson syndrome type 2 3 0 1 0 4
Snijders Blok-Campeau syndrome 0 2 2 0 4
Spermatogenic failure 33 3 0 1 0 4
Spermatogenic failure, Y-linked, 2 0 0 4 0 4
Stickler syndrome type 1 3 1 0 0 4
Syndromic X-linked intellectual disability Claes-Jensen type 0 2 2 0 4
Telangiectasia, hereditary hemorrhagic, type 2 2 1 1 0 4
Usher syndrome type 1 3 1 0 0 4
Very long chain acyl-CoA dehydrogenase deficiency 3 1 0 0 4
3M syndrome 2 0 1 2 0 3
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia, Schmidt type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Stickler syndrome, type I, nonsyndromic ocular; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloepimetaphyseal dysplasia, Strudwick type 0 3 0 0 3
Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 3 0 0 0 3
Achondroplasia 3 0 0 0 3
Achromatopsia 2 1 2 0 0 3
Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 1 1 1 0 3
Acromesomelic dysplasia 2C, Hunter-Thompson type; Type A2 brachydactyly; Brachydactyly type C; Grebe syndrome; Multiple synostoses syndrome 2; Acromesomelic dysplasia 2B; Brachydactyly type A1C; Symphalangism, proximal, 1B; Osteoarthritis susceptibility 5 0 2 1 0 3
Acyl-CoA dehydrogenase 9 deficiency 2 0 1 0 3
Alagille syndrome due to a JAG1 point mutation 2 0 1 0 3
Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH 2 0 1 0 3
Alkaptonuria 1 1 1 0 3
Alkuraya-Kucinskas syndrome 0 1 2 0 3
Allan-Herndon-Dudley syndrome 0 2 1 0 3
Alstrom syndrome 0 3 0 0 3
Alveolar rhabdomyosarcoma; Waardenburg syndrome type 1; Craniofacial-deafness-hand syndrome; Waardenburg syndrome type 3 0 2 1 0 3
Aminoacylase 1 deficiency 0 0 3 0 3
Amyloidosis, primary localized cutaneous, 3 2 1 0 0 3
Angelman syndrome 0 2 1 0 3
Aniridia 1 2 1 0 0 3
Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; Coloboma, ocular, autosomal dominant 1 1 1 0 3
Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 0 3 0 0 3
Asphyxiating thoracic dystrophy 2 0 0 3 0 3
Au-Kline syndrome 1 2 0 0 3
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0 1 2 0 3
Autosomal dominant nonsyndromic hearing loss 12 0 1 2 0 3
Autosomal dominant nonsyndromic hearing loss 2A 1 2 0 0 3
Autosomal dominant nonsyndromic hearing loss 6 1 0 2 0 3
Autosomal recessive congenital ichthyosis 10 0 2 1 0 3
Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome 2 1 0 0 3
Autosomal recessive nonsyndromic hearing loss 16 2 1 0 0 3
Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A 1 2 0 0 3
Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 0 1 2 0 3
Autosomal recessive nonsyndromic hearing loss 84B 2 1 0 0 3
Autosomal recessive osteopetrosis 1 2 1 0 0 3
Bardet-Biedl syndrome 7 3 0 0 0 3
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 0 1 2 0 3
Blepharocheilodontic syndrome 2 1 2 0 0 3
Brain malformations with or without urinary tract defects 0 3 0 0 3
Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 1 1 1 0 3
Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 2 1 0 0 3
Breast-ovarian cancer, familial, susceptibility to, 4 3 0 0 0 3
Brugada syndrome 1 1 2 0 0 3
CHEK2-related cancer predisposition; Bone osteosarcoma; Familial prostate cancer 2 1 0 0 3
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1 3 0 0 0 3
Charcot-Marie-Tooth disease axonal type 2T; Spinocerebellar ataxia 43 0 2 1 0 3
Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i 1 0 2 0 3
Chromosome 2q32-q33 deletion syndrome 3 0 0 0 3
Clark-Baraitser syndrome 2 1 0 0 3
Coffin-Lowry syndrome 2 1 0 0 3
Coffin-Siris syndrome 8 0 2 1 0 3
Combined immunodeficiency due to LRBA deficiency 1 0 2 0 3
Combined malonic and methylmalonic acidemia 0 3 0 0 3
Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 1 0 2 0 3
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 1 2 0 3
Congenital disorder of glycosylation, type 2v 1 0 2 0 3
Congenital factor VII deficiency 1 2 0 0 3
Congenital hyperammonemia, type I 0 2 1 0 3
Congenital muscular dystrophy due to integrin alpha-7 deficiency 1 1 1 0 3
Cornelia de Lange syndrome 5 0 1 2 0 3
Costello syndrome 3 0 0 0 3
Deficiency of aromatic-L-amino-acid decarboxylase 2 0 1 0 3
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, ARX-related; Corpus callosum agenesis-abnormal genitalia syndrome; X-linked lissencephaly with abnormal genitalia; Partington syndrome 3 0 0 0 3
Developmental and epileptic encephalopathy, 26 1 2 0 0 3
Developmental and epileptic encephalopathy, 4 3 0 0 0 3
Developmental and epileptic encephalopathy, 75 0 1 2 0 3
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 1 1 1 0 3
Dias-Logan syndrome 0 3 0 0 3
Dihydropyrimidinase deficiency 1 2 0 0 3
Duchenne muscular dystrophy 2 1 0 0 3
Dystonia 28, childhood-onset; Intellectual developmental disorder, autosomal dominant 68 1 2 0 0 3
Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 1 0 2 0 3
Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 2 1 0 0 3
Epidermolytic palmoplantar keratoderma, 1 2 0 1 0 3
Epilepsy with myoclonic atonic seizures 1 2 0 0 3
Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 0 0 3 0 3
Exostoses, multiple, type 2; Seizures-scoliosis-macrocephaly syndrome 3 0 0 0 3
Exudative vitreoretinopathy 4 2 0 1 0 3
Fabry disease 2 1 0 0 3
Familial juvenile hyperuricemic nephropathy type 1 0 0 3 0 3
Generalized epilepsy with febrile seizures plus, type 2 0 2 1 0 3
Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 0 2 1 0 3
Global developmental delay with or without impaired intellectual development 1 1 1 0 3
Global developmental delay with speech and behavioral abnormalities 1 0 2 0 3
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2 1 0 0 3
Glycogen storage disease, type V 0 2 1 0 3
Gray platelet syndrome 0 0 3 0 3
Hearing loss, autosomal recessive 111 2 1 0 0 3
Hematuria, benign familial, 1 2 1 0 0 3
Hemochromatosis type 1 2 1 0 0 3
Hereditary spastic paraplegia 11 3 0 0 0 3
Hereditary spherocytosis type 4 0 2 1 0 3
Hermansky-Pudlak syndrome 3 2 0 1 0 3
Heterotopia, periventricular, X-linked dominant 1 2 0 0 3
Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Neural tube defects, folate-sensitive; Schizophrenia; Thrombophilia due to thrombin defect 0 2 1 0 3
Hydrocephalus, nonsyndromic, autosomal recessive 2 3 0 0 0 3
Hypercholesterolemia, autosomal dominant, 3 1 1 1 0 3
Hyperlipidemia, familial combined, LPL related; Hyperlipoproteinemia, type I 1 2 0 0 3
Hypogonadotropic hypogonadism 1 with or without anosmia 2 1 0 0 3
Hypohidrotic X-linked ectodermal dysplasia 2 1 0 0 3
Ichthyosis vulgaris 0 3 0 0 3
Intellectual developmental disorder 62 2 1 0 0 3
Intellectual disability, X-linked 63 1 0 2 0 3
Intellectual disability, autosomal dominant 39 2 1 0 0 3
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2 1 0 0 3
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 2 1 0 3
Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37 0 0 3 0 3
Joubert syndrome 21 2 1 0 0 3
Kleefstra syndrome 2 0 1 2 0 3
Koolen-de Vries syndrome 2 0 1 0 3
LZTR1-related schwannomatosis 2 1 0 0 3
Landau-Kleffner syndrome 1 1 1 0 3
Large congenital melanocytic nevus; Linear nevus sebaceous syndrome; Malignant tumor of urinary bladder; Costello syndrome; Epidermal nevus; Thyroid cancer, nonmedullary, 2 2 1 0 0 3
Laron-type isolated somatotropin defect; Short stature due to partial GHR deficiency; Hypercholesterolemia, familial, 1 0 0 3 0 3
Lissencephaly due to TUBA1A mutation 0 3 0 0 3
Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 3 0 0 0 3
Malan overgrowth syndrome 1 2 0 0 3
Mandibulofacial dysostosis-microcephaly syndrome 1 2 0 0 3
Maple syrup urine disease type 1A 2 1 0 0 3
Maturity-onset diabetes of the young type 11 0 0 3 0 3
Maturity-onset diabetes of the young type 3 2 1 0 0 3
Microcephaly 8, primary, autosomal recessive 0 2 1 0 3
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4; Portal hypertension, noncirrhotic, 1 1 2 0 0 3
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 0 2 1 0 3
Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 0 1 2 0 3
Mucopolysaccharidosis, MPS-III-B 2 1 0 0 3
Mucopolysaccharidosis, MPS-IV-A 1 2 0 0 3
Multiple endocrine neoplasia, type 1 1 2 0 0 3
Nance-Horan syndrome; Cataract 40 1 2 0 0 3
Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 3 0 0 0 3
Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 1 0 2 0 3
Netherton syndrome 3 0 0 0 3
Neurodegeneration with brain iron accumulation 5 1 1 1 0 3
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 3 0 0 0 3
Niemann-Pick disease, type C1 2 1 0 0 3
Noonan syndrome 8 2 1 0 0 3
Oocyte/zygote/embryo maturation arrest 20 0 1 2 0 3
Osteogenesis imperfecta type 11 2 1 0 0 3
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III 1 2 0 0 3
Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 0 3 0 0 3
Pheochromocytoma 2 1 0 0 3
Pheochromocytoma/paraganglioma syndrome 4 2 1 0 0 3
Pigmentary pallidal degeneration 0 2 1 0 3
Pigmentary retinal dystrophy 3 0 0 0 3
Pitt-Hopkins syndrome 2 1 0 0 3
Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 1 1 1 0 3
Poirier-Bienvenu neurodevelopmental syndrome 1 1 1 0 3
Polycystic liver disease 2 0 3 0 0 3
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 0 0 3 0 3
Primary ciliary dyskinesia 5 0 1 2 0 3
Primary ciliary dyskinesia 7 1 1 1 0 3
Propionic acidemia 2 1 0 0 3
Pyridoxine-dependent epilepsy 1 2 0 0 3
Renal cysts and diabetes syndrome 2 0 1 0 3
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 2 1 0 0 3
Retinitis pigmentosa 1 0 3 0 0 3
Retinitis pigmentosa 11 2 0 1 0 3
Retinitis pigmentosa 33 0 0 3 0 3
Retinitis pigmentosa 38 2 0 1 0 3
Retinoblastoma 2 1 0 0 3
Rett syndrome 3 0 0 0 3
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome; DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65 2 0 1 0 3
Rubinstein-Taybi syndrome due to CREBBP mutations 2 1 0 0 3
Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 0 2 1 0 3
Schaaf-Yang syndrome 2 1 0 0 3
Schinzel-Giedion syndrome; Intellectual disability, autosomal dominant 29 2 0 1 0 3
Short QT syndrome type 1; Long QT syndrome 2 0 1 2 0 3
Shwachman-Diamond syndrome 1; Aplastic anemia 2 0 1 0 3
Sinoatrial node dysfunction and deafness; Aldosterone-producing adenoma with seizures and neurological abnormalities 0 2 1 0 3
Sitosterolemia 2 2 1 0 0 3
Spermatogenic failure 17 0 2 1 0 3
Spermatogenic failure 56 0 0 3 0 3
Spermatogenic failure 65 0 1 2 0 3
Spinocerebellar ataxia type 42; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 2 1 0 3
Spondyloepiphyseal dysplasia tarda, X-linked 1 1 1 0 3
Syndromic X-linked intellectual disability 94 0 1 2 0 3
TCF12-related craniosynostosis; Hypogonadotropic hypogonadism 26 with or without anosmia 0 3 0 0 3
Telangiectasia, hereditary hemorrhagic, type 1 0 2 1 0 3
Thyroglobulin synthesis defect 2 1 0 0 3
Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8; Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 0 0 3 0 3
Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 2 1 0 3
Trichohepatoenteric syndrome 1 3 0 0 0 3
Type 2 diabetes mellitus; Hyperinsulinemic hypoglycemia, familial, 3; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 1 2 0 0 3
Usher syndrome type 2A 3 0 0 0 3
Vertebral, cardiac, renal, and limb defects syndrome 3 0 1 2 0 3
Waardenburg syndrome type 2A 2 0 1 0 3
X-linked agammaglobulinemia; X-linked agammaglobulinemia with growth hormone deficiency 1 1 1 0 3
X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Macular degeneration, X-linked atrophic 1 1 1 0 3
X-linked ichthyosis with steryl-sulfatase deficiency 1 2 0 0 3
X-linked lissencephaly with abnormal genitalia 2 1 0 0 3
X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 3 0 0 0 3
von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand disease type 2 1 2 0 0 3
3-Methylglutaconic aciduria type 3; Optic atrophy 3 0 0 2 0 2
3-methylcrotonyl-CoA carboxylase 1 deficiency 1 1 0 0 2
3M syndrome 1 0 2 0 0 2
46,XY sex reversal 3; Premature ovarian failure 7; Spermatogenic failure 8; 46,XX sex reversal 4 0 0 2 0 2
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 1 0 1 0 2
ALG6-congenital disorder of glycosylation 1C 0 2 0 0 2
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Colorectal cancer; Germ cell tumor of testis; Lacrimoauriculodentodigital syndrome 2 1 0 1 0 2
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer; LADD syndrome 1 2 0 0 0 2
Acrodermatitis continua suppurativa of Hallopeau 2 0 0 0 2
Acrodysostosis 2 with or without hormone resistance 0 0 2 0 2
Acute intermittent porphyria 0 1 1 0 2
Aicardi-Goutieres syndrome 1 1 1 0 0 2
Alexander disease 1 0 1 0 2
Alzahrani-Kuwahara syndrome 0 2 0 0 2
Amyloidosis, primary localized cutaneous, 1 0 1 1 0 2
Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 0 0 2 0 2
Androgen resistance syndrome; Kennedy disease; Partial androgen insensitivity syndrome; Hypospadias 1, X-linked; Familial prostate cancer 1 0 1 0 2
Anemia, congenital dyserythropoietic, type 1a 0 1 1 0 2
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2 0 0 0 2
Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5 1 1 0 0 2
Arginase deficiency 0 0 2 0 2
Arthrogryposis, renal dysfunction, and cholestasis 1 0 1 1 0 2
Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 0 1 1 0 2
Atypical glycine encephalopathy 0 0 2 0 2
Autism, susceptibility to, 17 0 2 0 0 2
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 1 1 0 0 2
Autosomal dominant nonsyndromic hearing loss 15 0 1 1 0 2
Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 0 1 1 0 2
Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 0 2 0 2
Autosomal dominant nonsyndromic hearing loss 5 1 0 1 0 2
Autosomal recessive DOPA responsive dystonia 1 1 0 0 2
Autosomal recessive ataxia due to ubiquinone deficiency 0 2 0 0 2
Autosomal recessive bestrophinopathy 1 1 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2A 2 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 1 1 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 1 0 1 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Retinitis pigmentosa 76 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 28 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 0 1 1 0 2
Autosomal recessive nonsyndromic hearing loss 30 0 2 0 0 2
Axenfeld-Rieger syndrome type 3; Anterior segment dysgenesis 3 0 1 1 0 2
BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--FROESE; BLOOD GROUP--WRIGHT ANTIGEN; Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; Cryohydrocytosis; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia; Malaria, susceptibility to 1 0 1 0 2
Baraitser-Winter syndrome 1 1 0 1 0 2
Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2 0 0 0 2
Bardet-Biedl syndrome 4 0 2 0 0 2
Bartter disease type 2 0 2 0 0 2
Bartter disease type 3; Bartter disease type 4B 1 1 0 0 2
Basal cell carcinoma, susceptibility to, 1; Holoprosencephaly 7; Basal cell nevus syndrome 1 1 0 1 0 2
Becker muscular dystrophy 2 0 0 0 2
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A 2 0 0 0 2
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 1 0 0 2
Bloom syndrome 2 0 0 0 2
Bohring-Opitz syndrome 0 2 0 0 2
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts 0 0 2 0 2
Bone osteosarcoma; Malignant tumor of urinary bladder; Small cell lung carcinoma; Retinoblastoma 2 0 0 0 2
Brachydactyly type B1 1 1 0 0 2
Brachydactyly type B2; Symphalangism-brachydactyly syndrome; Tarsal-carpal coalition syndrome; Stapes ankylosis with broad thumbs and toes; Proximal symphalangism 1A 0 1 1 0 2
Brody myopathy 1 1 0 0 2
COG5-congenital disorder of glycosylation 0 0 2 0 2
Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer 2 0 0 0 2
Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 2 0 0 0 2
Cataract 3 multiple types 0 2 0 0 2
Cataract 45 0 0 2 0 2
Central core myopathy 1 1 0 0 2
Cerebellar atrophy, visual impairment, and psychomotor retardation; 0 2 0 0 2
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 1 1 0 2
Charcot-Marie-Tooth disease axonal type 2Z; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 0 2 0 2
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D 2 0 0 0 2
Charcot-Marie-Tooth disease type 4B3 0 2 0 0 2
Charcot-Marie-Tooth disease type 4C 0 2 0 0 2
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 1 0 1 0 2
Ciliary dyskinesia, primary, 40 2 0 0 0 2
Cockayne syndrome type 2 0 1 1 0 2
Coffin-Lowry syndrome; Intellectual disability, X-linked 19 0 0 2 0 2
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 0 1 1 0 2
Colorectal cancer, hereditary nonpolyposis, type 2 1 1 0 0 2
Combined oxidative phosphorylation defect type 8; Leukoencephalopathy, progressive, with ovarian failure 1 1 0 0 2
Congenital afibrinogenemia 2 0 0 0 2
Congenital amegakaryocytic thrombocytopenia 1 2 0 0 0 2
Congenital contractural arachnodactyly; Macular degeneration, early-onset 0 1 1 0 2
Congenital disorder of deglycosylation 1 1 0 1 0 2
Congenital dyserythropoietic anemia, type II 1 1 0 0 2
Congenital factor V deficiency 2 0 0 0 2
Congenital generalized lipodystrophy type 2; Severe neurodegenerative syndrome with lipodystrophy 1 1 0 0 2
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 2 0 0 2
Congenital lipoid adrenal hyperplasia due to STAR deficency 2 0 0 0 2
Congenital myasthenic syndrome 11; Fetal akinesia deformation sequence 2 0 0 2 0 2
Congenital myopathy 22A, classic 0 2 0 0 2
Corneal dystrophy, lattice type 3A; Thiel-Behnke corneal dystrophy; Reis-Bucklers' corneal dystrophy; Avellino corneal dystrophy; Epithelial basement membrane dystrophy; Lattice corneal dystrophy Type I; Groenouw corneal dystrophy type I 1 0 1 0 2
Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 1 1 0 0 2
Cystinuria 1 1 0 0 2
D-2-hydroxyglutaric aciduria 1 0 1 1 0 2
DNA ligase IV deficiency 2 0 0 0 2
DeSanto-Shinawi syndrome due to WAC point mutation 1 1 0 0 2
Deeah syndrome; Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 0 1 1 0 2
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 0 2 0 0 2
Deficiency of acetyl-CoA acetyltransferase 2 0 0 0 2
Deficiency of iodide peroxidase 0 2 0 0 2
Developmental and epileptic encephalopathy, 18 0 0 2 0 2
Developmental and epileptic encephalopathy, 50 1 1 0 0 2
Developmental delay with or without dysmorphic facies and autism 0 1 1 0 2
Dilated cardiomyopathy 1A 1 1 0 0 2
Dilated cardiomyopathy 1DD 0 2 0 0 2
Dilated cardiomyopathy 1I; Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal syndrome, Kaeser type 1 1 0 0 2
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Restrictive dermopathy 2 1 1 0 0 2
Ectopia lentis 1, isolated, autosomal dominant 1 1 0 0 2
Ehlers-Danlos syndrome, classic type, 1 2 0 0 0 2
Elliptocytosis 2; Pyropoikilocytosis, hereditary; Hereditary spherocytosis type 3 1 1 0 0 2
Ellis-van Creveld syndrome; Curry-Hall syndrome 0 2 0 0 2
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 1 0 1 0 2
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome 0 2 0 0 2
Epilepsy, familial temporal lobe, 1 0 1 1 0 2
Epiphyseal dysplasia, multiple, 3 1 0 1 0 2
Epiphyseal dysplasia, multiple, 3; Intervertebral disc disorder; Stickler syndrome, type 6 0 0 2 0 2
Exostoses, multiple, type 1 2 0 0 0 2
Exudative vitreoretinopathy 2, X-linked; Atrophia bulborum hereditaria 0 2 0 0 2
Exudative vitreoretinopathy 5 1 0 1 0 2
Factor XII deficiency disease 1 1 0 0 2
Familial adenomatous polyposis 2; Gastric cancer 1 1 0 0 2
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2 2 0 0 0 2
Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3 0 2 0 0 2
Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 0 1 1 0 2
Familial meningioma; Neurofibromatosis, type 2 2 0 0 0 2
Familial spontaneous pneumothorax; Nonpapillary renal cell carcinoma; Colorectal cancer; Birt-Hogg-Dube syndrome 1 2 0 0 0 2
Fanconi anemia complementation group D2 1 1 0 0 2
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 0 0 2 0 2
Febrile seizures, familial, 8; Developmental and epileptic encephalopathy, 74 1 0 1 0 2
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement; Complex cortical dysplasia with other brain malformations 1 0 1 1 0 2
Fliedner-Zweier syndrome 0 1 1 0 2
Floating-Harbor syndrome 2 0 0 0 2
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 1 0 1 0 2
Frontometaphyseal dysplasia 1 0 1 1 0 2
Fumarase deficiency; Hereditary leiomyomatosis and renal cell cancer 1 1 0 0 2
GM1 gangliosidosis type 2 1 1 0 0 2
Galactosylceramide beta-galactosidase deficiency 1 0 1 0 2
Galloway-Mowat syndrome 3 1 1 0 0 2
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Pheochromocytoma/paraganglioma syndrome 3 2 0 0 0 2
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Pheochromocytoma/paraganglioma syndrome 4; Mitochondrial complex 2 deficiency, nuclear type 4 1 1 0 0 2
Gaucher disease type I 1 0 1 0 2
Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Developmental and epileptic encephalopathy, 52 0 0 2 0 2
Genitourinary and/or brain malformation syndrome 1 1 0 0 2
Glaucoma 3A; Anterior segment dysgenesis 6 0 1 1 0 2
Glycogen storage disease IXa1 0 2 0 0 2
Glycogen storage disease IXb 1 0 1 0 2
Glycogen storage disease type III 1 0 1 0 2
Glycogen storage disease, type VII 0 0 2 0 2
Growth delay due to insulin-like growth factor I resistance 0 1 1 0 2
Guttmacher syndrome; Hand-foot-genital syndrome 1 0 1 0 2
Heinz body anemia; alpha Thalassemia; Hemoglobin H disease; Erythrocytosis, familial, 7 1 0 1 0 2
Hemochromatosis type 2B 0 0 2 0 2
Hereditary angioedema type 1 0 2 0 0 2
Hereditary diffuse gastric adenocarcinoma 0 2 0 0 2
Hereditary pancreatitis; Tropical pancreatitis 0 2 0 0 2
Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 0 0 2 0 2
Hereditary spastic paraplegia 52 2 0 0 0 2
Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 0 1 1 0 2
Hermansky-Pudlak syndrome 1 1 1 0 0 2
Hermansky-Pudlak syndrome 6 0 2 0 0 2
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2 0 0 0 2
Holocarboxylase synthetase deficiency 1 0 1 0 2
Holoprosencephaly 12 with or without pancreatic agenesis; Vissers-Bodmer syndrome 2 0 0 0 2
Holt-Oram syndrome 1 0 1 0 2
Hydatidiform mole, recurrent, 1 1 1 0 0 2
Hydatidiform mole, recurrent, 3 0 0 2 0 2
Hypercalcemia, infantile, 2 1 1 0 0 2
Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic, 4 0 1 1 0 2
Hyperinsulinemic hypoglycemia, familial, 1 1 1 0 0 2
Hyperphosphatasia with intellectual disability syndrome 5 0 0 2 0 2
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S 0 2 0 0 2
Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 0 1 1 0 2
Hypertrophic cardiomyopathy 7 1 1 0 0 2
Hypochondroplasia 1 1 0 0 2
Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 0 2 0 0 2
Hypogonadotropic hypogonadism 3 with or without anosmia 0 0 2 0 2
Hypogonadotropic hypogonadism 5 with or without anosmia 0 0 2 0 2
Hypokalemic periodic paralysis, type 2 0 1 1 0 2
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1 0 1 0 2
Hypoparathyroidism, deafness, renal disease syndrome 2 0 0 0 2
Hypothyroidism due to TSH receptor mutations 2 0 0 0 2
Hypotonia, ataxia, and delayed development syndrome 0 1 1 0 2
Hypotrichosis 7 2 0 0 0 2
Immunodeficiency 23 0 0 2 0 2
Immunodeficiency 67 1 1 0 0 2
Inherited Creutzfeldt-Jakob disease 1 1 0 0 2
Intellectual developmental disorder 61 0 1 1 0 2
Intellectual developmental disorder with autism and speech delay 1 1 0 0 2
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 1 0 2
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 2 0 0 2
Intellectual developmental disorder with seizures and language delay 0 1 1 0 2
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 0 2 0 0 2
Intellectual developmental disorder, autosomal dominant 72 1 1 0 0 2
Intellectual developmental disorder, autosomal recessive 71 0 0 2 0 2
Intellectual disability, X-linked 1 0 0 2 0 2
Intellectual disability, X-linked, syndromic, Houge type 0 2 0 0 2
Intellectual disability, autosomal dominant 15 0 1 1 0 2
Intellectual disability, autosomal dominant 24 0 0 2 0 2
Intellectual disability, autosomal dominant 45 0 1 1 0 2
Intellectual disability, autosomal dominant 46 1 0 1 0 2
Intellectual disability, autosomal dominant 51 0 2 0 0 2
Intellectual disability, autosomal dominant 57 1 1 0 0 2
Iodotyrosyl coupling defect 2 0 0 0 2
Joubert syndrome 24 2 0 0 0 2
Joubert syndrome 3 0 2 0 0 2
Joubert syndrome 30 1 1 0 0 2
Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2 0 0 0 2
Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 1 1 0 0 2
Juvenile retinoschisis 2 0 0 0 2
Kabuki syndrome 1 1 1 0 0 2
Kartagener syndrome 0 2 0 0 2
Kindler syndrome 2 0 0 0 2
Knobloch syndrome 1 1 1 0 0 2
LEOPARD syndrome 2; Noonan syndrome 5; Dilated cardiomyopathy 1NN 1 0 1 0 2
Laryngo-onycho-cutaneous syndrome; Epidermolysis bullosa, junctional 2A, intermediate; Epidermolysis bullosa, junctional 2B, severe 0 2 0 0 2
Leber congenital amaurosis 13 1 1 0 0 2
Leber congenital amaurosis 2; Retinitis pigmentosa 20; Retinitis pigmentosa 87 with choroidal involvement 1 0 1 0 2
Leber congenital amaurosis 8 2 0 0 0 2
Legius syndrome 1 1 0 0 2
Lethal congenital contracture syndrome 11 1 1 0 0 2
Leukoencephalopathy with vanishing white matter 3 0 1 1 0 2
Leukoencephalopathy, diffuse hereditary, with spheroids 1 1 1 0 0 2
Li-Fraumeni syndrome 1 1 1 0 0 2
Loeys-Dietz syndrome 1; Multiple self-healing squamous epithelioma 1 1 0 0 2
Loeys-Dietz syndrome 2 1 0 1 0 2
Lynch syndrome 1 2 0 0 0 2
Lynch syndrome 1; Muir-Torré syndrome; Mismatch repair cancer syndrome 2 1 1 0 0 2
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 1 0 1 0 2
Mandibuloacral dysplasia with type B lipodystrophy; Restrictive dermopathy 1 1 1 0 0 2
Maple syrup urine disease type 1B 2 0 0 0 2
McCune-Albright syndrome; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types; ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism type I A 2 0 0 0 2
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2 1 1 0 0 2
Megabladder, congenital 0 1 1 0 2
Megalencephalic leukoencephalopathy with subcortical cysts 1 0 1 1 0 2
Melanoma, uveal, susceptibility to, 2; BAP1-related tumor predisposition syndrome; Kury-Isidor syndrome 0 1 1 0 2
Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 1 0 1 0 2
Merosin deficient congenital muscular dystrophy 0 0 2 0 2
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 0 2 0 0 2
Microcephalic primordial dwarfism due to RTTN deficiency 0 2 0 0 2
Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 0 2 0 0 2
Microcornea-myopic chorioretinal atrophy 2 0 0 0 2
Microphthalmia, syndromic 1; Ogden syndrome 0 0 2 0 2
Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 2 0 0 0 2
Mitochondrial complex I deficiency, nuclear type 16 0 2 0 0 2
Mitochondrial complex I deficiency, nuclear type 17 2 0 0 0 2
Mitochondrial complex I deficiency, nuclear type 29 0 2 0 0 2
Mosaic variegated aneuploidy syndrome 3; Oocyte maturation defect 9 0 1 1 0 2
Mowat-Wilson syndrome 1 1 0 0 2
Mucolipidosis type II; Pseudo-Hurler polydystrophy 0 2 0 0 2
Mucopolysaccharidosis, MPS-II 1 1 0 0 2
Mucopolysaccharidosis, MPS-III-A 0 2 0 0 2
Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 1 0 1 0 2
Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Carpal tunnel syndrome 2 0 1 1 0 2
Multiple mitochondrial dysfunctions syndrome 3 0 1 1 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 0 2 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2 0 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 1 0 1 0 2
Myocardial infarction, susceptibility to; Congenital factor VII deficiency 0 2 0 0 2
Myopia 26, X-linked, female-limited 0 0 2 0 2
Myosclerosis; Bethlem myopathy 1B; Ullrich congenital muscular dystrophy 1B 0 2 0 0 2
Neonatal-onset encephalopathy with rigidity and seizures; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 1 1 0 0 2
Nephronophthisis 12 2 0 0 0 2
Nephrotic syndrome, type 2 0 2 0 0 2
Nephrotic syndrome, type 9 0 1 1 0 2
Neurodegeneration with brain iron accumulation 8 0 0 2 0 2
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 0 0 2 0 2
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 0 0 2 0 2
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 0 1 1 0 2
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 2 0 0 0 2
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 2 0 0 2
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 1 0 1 0 2
Neurodevelopmental disorder with or without early-onset generalized epilepsy 1 1 0 0 2
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive; Developmental and epileptic encephalopathy 101 0 1 1 0 2
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 1 0 1 0 2
Neuronal ceroid lipofuscinosis 1 0 0 2 0 2
Neuronal ceroid lipofuscinosis 7; Macular dystrophy with central cone involvement 2 0 0 0 2
Neuroocular syndrome 1 0 2 0 0 2
Neuropathy, hereditary motor and sensory, type 6B; Pontocerebellar hypoplasia, type 1E 0 2 0 0 2
Neutral lipid storage myopathy 1 1 0 0 2
Nijmegen breakage syndrome-like disorder 0 2 0 0 2
Noonan syndrome 6 2 0 0 0 2
Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 0 0 2 0 2
O'Donnell-Luria-Rodan syndrome 1 1 0 0 2
Okur-Chung neurodevelopmental syndrome 1 1 0 0 2
Oocyte/zygote/embryo maturation arrest 16 0 1 1 0 2
Orofaciodigital syndrome I 1 1 0 0 2
Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 0 1 1 0 2
Orofaciodigital syndrome type 6; Joubert syndrome 17 1 0 1 0 2
Osteogenesis imperfecta type 6 1 0 1 0 2
Osteogenesis imperfecta type 8 1 1 0 0 2
Ovarian dysgenesis 1 1 0 1 0 2
Ovarian dysgenesis 8 0 0 2 0 2
Ovarian hyperstimulation syndrome; Dizygotic twins; Ovarian dysgenesis 1 0 1 1 0 2
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 2 0 0 2
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 0 1 0 2
Palmoplantar keratoderma, Nagashima type 2 0 0 0 2
Permanent neonatal diabetes mellitus 1 2 0 0 0 2
Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 1 1 0 0 2
Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 1 1 0 0 2
Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B 1 1 0 0 2
Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Familial pancreatic carcinoma; Germ cell tumor of testis 2 0 0 0 2
Phelan-McDermid syndrome 2 0 0 0 2
Pierpont syndrome; Intellectual disability, autosomal dominant 41 0 2 0 0 2
Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 1 1 0 0 2
Pituitary hormone deficiency, combined, 1 1 1 0 0 2
Platelet-type bleeding disorder 16; Glanzmann thrombasthenia 1 2 0 0 0 2
Premature ovarian failure 14 0 0 2 0 2
Premature ovarian failure 16 0 0 2 0 2
Primary ciliary dyskinesia 15 0 2 0 0 2
Primary ciliary dyskinesia 19 0 2 0 0 2
Primary ciliary dyskinesia 20 1 1 0 0 2
Primary ciliary dyskinesia 30 0 2 0 0 2
Primrose syndrome 0 2 0 0 2
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 1 0 1 0 2
Pseudohypoaldosteronism type 2E; Neurodevelopmental disorder with or without autism or seizures 1 1 0 0 2
Pseudohypoaldosteronism, type IB1, autosomal recessive 1 1 0 0 2
Pulmonary hypertension, primary, 1 1 1 0 0 2
Pyruvate dehydrogenase E3 deficiency 0 1 1 0 2
Pyruvate kinase deficiency of red cells 1 0 1 0 2
Pyruvate kinase hyperactivity; Pyruvate kinase deficiency of red cells 0 1 1 0 2
Renal coloboma syndrome 1 0 1 0 2
Retinitis pigmentosa 54 0 2 0 0 2
Retinitis pigmentosa 77 0 0 2 0 2
Retinitis pigmentosa 7; Pigmentary retinal dystrophy; Patterned macular dystrophy 1; Choroidal dystrophy, central areolar 2; Vitelliform macular dystrophy 3 1 1 0 0 2
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Developmental delay with autism spectrum disorder and gait instability 0 1 1 0 2
Selective pituitary resistance to thyroid hormone; Thyroid hormone resistance, generalized, autosomal dominant; Thyroid hormone resistance, generalized, autosomal recessive 1 0 1 0 2
Sengers syndrome 2 0 0 0 2
Severe X-linked myotubular myopathy 1 1 0 0 2
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 2 0 0 2
Short-rib thoracic dysplasia 6 with or without polydactyly; Amyotrophic lateral sclerosis, susceptibility to, 24 0 2 0 0 2
Short-rib thoracic dysplasia 8 with or without polydactyly 0 2 0 0 2
Sjögren-Larsson syndrome 2 0 0 0 2
Spastic paraplegia-severe developmental delay-epilepsy syndrome 0 1 1 0 2
Spermatogenic failure 16 1 1 0 0 2
Spermatogenic failure 18 1 1 0 0 2
Spermatogenic failure 31 1 0 1 0 2
Spermatogenic failure 34 1 0 1 0 2
Spermatogenic failure 8 0 0 2 0 2
Spinal muscular atrophy with congenital bone fractures 2 0 0 2 0 2
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 0 2 0 0 2
Split hand-foot malformation 1 with sensorineural hearing loss; Split hand-foot malformation 1 0 1 1 0 2
Sponastrime dysplasia 0 2 0 0 2
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type 0 1 1 0 2
Spondyloepiphyseal dysplasia, Kimberley type; Spondyloepimetaphyseal dysplasia, aggrecan type; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0 2 0 0 2
Steel syndrome 0 0 2 0 2
Sucrase-isomaltase deficiency 0 2 0 0 2
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 1 0 1 0 2
Syndromic X-linked intellectual disability Najm type; FG syndrome 4 0 2 0 0 2
TCF12-related craniosynostosis 1 1 0 0 2
Tay-Sachs disease 0 1 1 0 2
Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2 2 0 0 0 2
Tolchin-Le Caignec syndrome 0 2 0 0 2
Townes-Brocks syndrome 1 1 0 1 0 2
Type 2 diabetes mellitus 1 0 1 0 2
Usher syndrome type 2C 0 1 1 0 2
Visceral neuropathy, familial, 1, autosomal recessive 0 0 2 0 2
Vitamin D-dependent rickets type II with alopecia 2 0 0 0 2
Vitamin K-dependent clotting factors, combined deficiency of, type 1 1 1 0 0 2
Von Hippel-Lindau syndrome 1 1 0 0 2
Weiss-Kruszka syndrome 1 1 0 0 2
Wieacker-Wolff syndrome; Wieacker-Wolff syndrome, female-restricted 1 1 0 0 2
X-linked erythropoietic protoporphyria; X-linked sideroblastic anemia 1 0 0 2 0 2
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type 1 0 1 0 2
alpha Thalassemia 1 1 0 0 2
von Willebrand disease type 2 1 1 0 0 2
3-methylcrotonyl-CoA carboxylase 2 deficiency 1 0 0 0 1
3-methylglutaconic aciduria type 1 0 1 0 0 1
46,XX ovarian dysgenesis-short stature syndrome 1 0 0 0 1
46,XY sex reversal 11 0 0 1 0 1
8q24.3 microdeletion syndrome 0 1 0 0 1
ADULT syndrome; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3; Limb-mammary syndrome; Rapp-Hodgkin syndrome; Split hand-foot malformation 4; Orofacial cleft 8; Premature ovarian failure 21 0 1 0 0 1
AICA-ribosiduria 0 1 0 0 1
ALG1-congenital disorder of glycosylation 0 1 0 0 1
Aarskog syndrome 0 1 0 0 1
Acheiropodia; Laurin-Sandrow syndrome; Polydactyly of a triphalangeal thumb; Syndactyly type 4; Tibia, hypoplasia or aplasia of, with polydactyly; Triphalangeal thumb-polysyndactyly syndrome 0 1 0 0 1
Achondrogenesis type II 0 0 1 0 1
Achondrogenesis, type IA; Odontochondrodysplasia 1 1 0 0 0 1
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Colorectal cancer; Germ cell tumor of testis; LADD syndrome 1 0 0 1 0 1
Achromatopsia 4 0 1 0 0 1
Acrocapitofemoral dysplasia; Brachydactyly type A1 0 0 1 0 1
Acrocephalosyndactyly type I 1 0 0 0 1
Acrokeratosis verruciformis of Hopf; Keratosis follicularis 0 1 0 0 1
Acromelic frontonasal dysostosis; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 0 1 0 1
Acromesomelic dysplasia 1, Maroteaux type 0 0 1 0 1
Actin accumulation myopathy; Congenital myopathy 4A, autosomal dominant; Progressive scapulohumeroperoneal distal myopathy 0 1 0 0 1
Actin accumulation myopathy; Progressive scapulohumeroperoneal distal myopathy; Congenital myopathy 2b, severe infantile, autosomal recessive; Congenital myopathy 2c, severe infantile, autosomal dominant 1 0 0 0 1
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 1 0 0 0 1
Adenylosuccinate lyase deficiency 0 1 0 0 1
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Familial pancreatic carcinoma; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5 1 0 0 0 1
Adult polyglucosan body disease; Glycogen storage disease, type IV 1 0 0 0 1
Age related macular degeneration 1 0 0 1 0 1
Agenesis of the corpus callosum with peripheral neuropathy; Charcot-Marie-Tooth disease, axonal, IIa 2II 0 0 1 0 1
Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon 1 0 0 0 1
Aland island eye disease; X-linked cone-rod dystrophy 3; Congenital stationary night blindness 2A 0 1 0 0 1
Alpha-1-antitrypsin deficiency 1 0 0 0 1
Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies; Developmental and epileptic encephalopathy 98 0 1 0 0 1
Alternating hemiplegia of childhood 2 0 1 0 0 1
Alveolar capillary dysplasia with pulmonary venous misalignment 0 1 0 0 1
Alzheimer disease 3; Frontotemporal dementia; Pick disease; Dilated cardiomyopathy 1U; Acne inversa, familial, 3 0 0 1 0 1
Amelogenesis imperfecta hypomaturation type 2A3 0 1 0 0 1
Amyotrophic lateral sclerosis type 1 0 0 1 0 1
Amyotrophic lateral sclerosis type 11; Bilateral parasagittal parieto-occipital polymicrogyria; Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome 0 1 0 0 1
Amyotrophic lateral sclerosis type 23 0 0 1 0 1
Amyotrophic lateral sclerosis, susceptibility to, 24 0 1 0 0 1
Andersen Tawil syndrome; Short QT syndrome type 3; Atrial fibrillation, familial, 9 1 0 0 0 1
Aneurysm-osteoarthritis syndrome 0 1 0 0 1
Anophthalmia/microphthalmia-esophageal atresia syndrome 0 1 0 0 1
Anterior segment dysgenesis 8 0 1 0 0 1
Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 0 1 0 0 1
Aortic aneurysm, familial thoracic 6 1 0 0 0 1
Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction syndrome 1 0 0 0 1
Aortic valve disease 3 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia 10 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 11 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 8 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 8; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 1 0 0 0 1
Arthrogryposis, distal, type 2B2 1 0 0 0 1
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Gordon syndrome; Marden-Walker syndrome; Arthrogryposis, distal, with impaired proprioception and touch 0 1 0 0 1
Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 0 1 0 0 1
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 1 0 0 1
Ataxia-hypogonadism-choroidal dystrophy syndrome; Laurence-Moon syndrome; Hereditary spastic paraplegia 39; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 0 1 0 0 1
Ataxia-telangiectasia-like disorder 1 0 0 1 0 1
Atrial fibrillation, familial, 18 0 0 1 0 1
Auditory neuropathy-optic atrophy syndrome 0 0 1 0 1
Auriculocondylar syndrome 2; Auriculocondylar syndrome 2B 0 1 0 0 1
Autism, susceptibility to, X-linked 1 0 0 1 0 1
Autism, susceptibility to, X-linked 2 0 0 1 0 1
Autism, susceptibility to, X-linked 4 0 0 1 0 1
Autosomal dominant Alport syndrome 0 1 0 0 1
Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Hematuria, benign familial, 1 0 0 1 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures; Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 0 0 1 0 1
Autosomal dominant deafness - onychodystrophy syndrome; Zimmermann-Laband syndrome 2 0 0 1 0 1
Autosomal dominant distal renal tubular acidosis 0 1 0 0 1
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 0 1 0 1
Autosomal dominant isolated somatotropin deficiency 0 0 1 0 1
Autosomal dominant limb-girdle muscular dystrophy type 1G 0 0 1 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 1; Tobacco addiction, susceptibility to 0 0 1 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 3 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 11 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 56 0 0 1 0 1
Autosomal dominant optic atrophy classic form 0 1 0 0 1
Autosomal dominant palmoplantar keratoderma and congenital alopecia; Craniometaphyseal dysplasia, autosomal recessive; Oculodentodigital dysplasia, autosomal recessive; Syndactyly type 3; Oculodentodigital dysplasia; Erythrokeratodermia variabilis et progressiva 3 0 0 1 0 1
Autosomal recessive Alport syndrome 0 1 0 0 1
Autosomal recessive early-onset Parkinson disease 23 0 1 0 0 1
Autosomal recessive inherited pseudoxanthoma elasticum 1 0 0 0 1
Autosomal recessive inherited pseudoxanthoma elasticum; Arterial calcification, generalized, of infancy, 2 0 0 1 0 1
Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2C 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2G 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2U 0 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type R18 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 15 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 18B 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 2B; Erythrokeratodermia variabilis et progressiva 1 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromic hearing loss 3B; Hidrotic ectodermal dysplasia syndrome 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 21 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 22 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 31; Usher syndrome type 2D 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 79 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 84A 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 84A; Hearing loss, autosomal dominant 73 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 10 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 16 1 0 0 0 1
Axenfeld-Rieger syndrome type 1 0 1 0 0 1
Baraitser-winter syndrome 2 0 1 0 0 1
Bardet-Biedl syndrome 1 0 1 0 0 1
Bardet-Biedl syndrome 10 0 0 1 0 1
Bardet-Biedl syndrome 2 0 1 0 0 1
Bardet-Biedl syndrome 9 0 0 1 0 1
Bartter disease type 3 0 1 0 0 1
Bartter disease type 5 0 0 1 0 1
Basal cell carcinoma, susceptibility to, 1; Capillary malformation-arteriovenous malformation 1 1 0 0 0 1
Basilicata-Akhtar syndrome 0 1 0 0 1
Becker nevus syndrome; Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome; Congenital smooth muscle hamartoma, with or without hemihypertrophy; ACTB-associated syndromic thrombocytopenia 0 0 1 0 1
Beckwith-Wiedemann syndrome 0 1 0 0 1
Beckwith-Wiedemann syndrome; IMAGe syndrome 0 1 0 0 1
Benign recurrent intrahepatic cholestasis type 1 0 0 1 0 1
Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis type 2 0 1 0 0 1
Beta-D-mannosidosis 0 1 0 0 1
Biotinidase deficiency 1 0 0 0 1
Birt-Hogg-Dube syndrome 1 1 0 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 1 0 0 1
Bothnia retinal dystrophy; Newfoundland cone-rod dystrophy; Pigmentary retinal dystrophy 1 0 0 0 1
Brachydactyly type E2 0 1 0 0 1
Brachyolmia-amelogenesis imperfecta syndrome 0 1 0 0 1
Brachyrachia (short spine dysplasia); Familial digital arthropathy-brachydactyly; Metatropic dysplasia; Parastremmatic dwarfism; Spondylometaphyseal dysplasia, Kozlowski type; Spondyloepimetaphyseal dysplasia, Maroteaux type; Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Sodium serum level quantitative trait locus 1; Charcot-Marie-Tooth disease axonal type 2C; Avascular necrosis of femoral head, primary, 2 0 0 1 0 1
Brain small vessel disease 1 with or without ocular anomalies 1 0 0 0 1
Branchiootic syndrome 1 1 0 0 0 1
Branchiootic syndrome 1; Branchiootorenal syndrome 1 0 0 1 0 1
Branchiootic syndrome 3 0 0 1 0 1
Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 0 1 0 0 1
Branchiootorenal syndrome 1 0 1 0 0 1
Brugada syndrome 1; Dilated cardiomyopathy 1E 0 1 0 0 1
Brugada syndrome 1; Long QT syndrome 3; Progressive familial heart block, type 1A; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10 0 1 0 0 1
Brugada syndrome 4 0 0 1 0 1
CBL-related disorder 0 1 0 0 1
CHD7-related CHARGE syndrome 0 1 0 0 1
CLOVES syndrome 1 0 0 0 1
COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 1 0 0 0 1
COG8-congenital disorder of glycosylation 0 1 0 0 1
Camptomelic dysplasia 0 1 0 0 1
Capillary infantile hemangioma; Hereditary lymphedema type I; Congenital heart defects, multiple types, 7 0 1 0 0 1
Cardiac arrhythmia, ankyrin-B-related 0 1 0 0 1
Cardiac-urogenital syndrome 1 0 0 0 1
Cardioacrofacial dysplasia 2 0 0 1 0 1
Cardiofaciocutaneous syndrome 1 1 0 0 0 1
Cardiofaciocutaneous syndrome 2 1 0 0 0 1
Cardiofaciocutaneous syndrome 4 1 0 0 0 1
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 1 0 0 1
Cardiospondylocarpofacial syndrome 0 0 1 0 1
Cardiospondylocarpofacial syndrome; Frontometaphyseal dysplasia 2 0 0 1 0 1
Carney-Stratakis syndrome; Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 1; Mitochondrial complex 2 deficiency, nuclear type 3 0 1 0 0 1
Cataract 10 multiple types 1 0 0 0 1
Cataract 14 multiple types 0 0 1 0 1
Cataract 23 0 0 1 0 1
Cataract 36 0 0 1 0 1
Cataract 4 multiple types 0 1 0 0 1
Cataract 6 multiple types 1 0 0 0 1
Cataract 9 multiple types 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 1 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 2 0 0 1 0 1
Cerebellar atrophy, developmental delay, and seizures 0 1 0 0 1
Cerebral amyloid angiopathy, APP-related; Alzheimer disease type 1 0 1 0 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 0 0 0 1
Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive 1 0 0 0 1
Ceroid lipofuscinosis, neuronal, 4 (Kufs type) 0 0 1 0 1
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2F; Neuronopathy, distal hereditary motor, type 2B 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease recessive intermediate A 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2T 1 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate E 1 0 0 0 1
Charcot-Marie-Tooth disease type 1F; Charcot-Marie-Tooth disease type 2E; Charcot-Marie-Tooth disease, dominant intermediate G 1 0 0 0 1
Charcot-Marie-Tooth disease type 2A2 1 0 0 0 1
Charcot-Marie-Tooth disease type 2A2; Multiple symmetric lipomatosis; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A 1 0 0 0 1
Charcot-Marie-Tooth disease type 2B1 0 1 0 0 1
Charcot-Marie-Tooth disease type 2E 1 0 0 0 1
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Dejerine-Sottas disease; Neuropathy, congenital hypomyelinating, 2 0 1 0 0 1
Charcot-Marie-Tooth disease, demyelinating, IIA 1I 0 0 1 0 1
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 1 0 0 0 1
Chondrodysplasia punctata 2 X-linked dominant; MEND syndrome 1 0 0 0 1
Chopra-Amiel-Gordon syndrome 0 1 0 0 1
Choroideremia 1 0 0 0 1
Christianson syndrome 1 0 0 0 1
Chronic obstructive pulmonary disease; Heme oxygenase 1 deficiency 0 1 0 0 1
Chuvash polycythemia 1 0 0 0 1
Chuvash polycythemia; Pheochromocytoma; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcinoma 1 0 0 0 1
Cleidocranial dysostosis 0 1 0 0 1
Coffin-Siris syndrome 12 0 0 1 0 1
Coffin-Siris syndrome 7 0 0 1 0 1
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 1 0 0 1
Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 0 1 0 0 1
Combined deficiency of sialidase AND beta galactosidase 1 0 0 0 1
Combined immunodeficiency, X-linked; X-linked severe combined immunodeficiency 1 0 0 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 0 0 1 0 1
Combined oxidative phosphorylation defect type 20 0 1 0 0 1
Combined oxidative phosphorylation deficiency 44 1 0 0 0 1
Complement component 6 deficiency 1 0 0 0 1
Complement component 9 deficiency 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 4 0 0 1 0 1
Cone monochromatism 0 0 1 0 1
Cone-rod dystrophy 12 1 0 0 0 1
Cone-rod dystrophy 13; Leber congenital amaurosis 6 0 1 0 0 1
Cone-rod dystrophy 5 0 0 1 0 1
Cone-rod dystrophy 9 0 1 0 0 1
Cone-rod synaptic disorder syndrome, congenital nonprogressive 0 1 0 0 1
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0 1 0 0 1
Congenital bile acid synthesis defect 1 1 0 0 0 1
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 0 0 1 0 1
Congenital diarrhea 5 with tufting enteropathy 0 1 0 0 1
Congenital diarrhea 5 with tufting enteropathy; Lynch syndrome 8 0 0 1 0 1
Congenital disorder of glycosylation, type Iw, autosomal dominant 0 0 1 0 1
Congenital fibrosis of extraocular muscles type 1 1 0 0 0 1
Congenital generalized lipodystrophy type 2 1 0 0 0 1
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 1 0 0 1
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0 1 0 0 1
Congenital microvillous atrophy; Cholestasis, progressive familial intrahepatic, 10 0 1 0 0 1
Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 0 1 0 0 1
Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 0 1 0 0 1
Congenital myasthenic syndrome 5 0 1 0 0 1
Congenital myasthenic syndrome 8 0 0 1 0 1
Congenital myopathy 2c, severe infantile, autosomal dominant 0 1 0 0 1
Congenital myopathy 4A, autosomal dominant 0 1 0 0 1
Congenital myotonia, autosomal recessive form 0 1 0 0 1
Congenital secretory diarrhea, chloride type 1 0 0 0 1
Congenital short bowel syndrome, autosomal recessive 0 1 0 0 1
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 0 0 1 0 1
Congenital stationary night blindness 1A 0 0 1 0 1
Congenital stationary night blindness 1C 1 0 0 0 1
Congenital stationary night blindness 1D 0 1 0 0 1
Congenital stationary night blindness autosomal dominant 2; Retinitis pigmentosa 40 0 1 0 0 1
Conotruncal heart malformations; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Tetralogy of Fallot; Atrioventricular septal defect 5; Atrial septal defect 9 0 1 0 0 1
Corneal dystrophy-perceptive deafness syndrome; Congenital hereditary endothelial dystrophy of cornea; Corneal dystrophy, Fuchs endothelial, 4 0 0 1 0 1
Cornelia de Lange syndrome 4 1 0 0 0 1
Coronary artery disease, autosomal dominant 2; Tooth agenesis, selective, 7 0 0 1 0 1
Cranioectodermal dysplasia 1 0 1 0 0 1
Cranioectodermal dysplasia 2 1 0 0 0 1
Craniofacial microsomia 1 1 0 0 0 1
Craniofrontonasal syndrome 1 0 0 0 1
Crouzon syndrome-acanthosis nigricans syndrome 1 0 0 0 1
Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 0 1 0 0 1
Cystic fibrosis 1 0 0 0 1
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer 0 0 1 0 1
DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 0 1 0 0 1
Dalmatian hypouricemia 0 1 0 0 1
Danon disease 1 0 0 0 1
Deficiency of alpha-mannosidase 0 1 0 0 1
Deficiency of guanidinoacetate methyltransferase 1 0 0 0 1
Deficiency of isobutyryl-CoA dehydrogenase 1 0 0 0 1
Deficiency of steroid 11-beta-monooxygenase 0 1 0 0 1
Developmental and epileptic encephalopathy 108 1 0 0 0 1
Developmental and epileptic encephalopathy 96 1 0 0 0 1
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 1 0 0 0 1
Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 1 0 0 0 1
Developmental and epileptic encephalopathy, 17; Neurodevelopmental disorder with involuntary movements 1 0 0 0 1
Developmental and epileptic encephalopathy, 23 0 1 0 0 1
Developmental and epileptic encephalopathy, 24; Generalized epilepsy with febrile seizures plus, type 10 0 1 0 0 1
Developmental and epileptic encephalopathy, 31A 0 0 1 0 1
Developmental and epileptic encephalopathy, 38 0 1 0 0 1
Developmental and epileptic encephalopathy, 42 1 0 0 0 1
Developmental and epileptic encephalopathy, 44; Spinocerebellar ataxia, autosomal recessive 24 0 0 1 0 1
Developmental and epileptic encephalopathy, 60 0 1 0 0 1
Developmental and epileptic encephalopathy, 61 0 0 1 0 1
Developmental and epileptic encephalopathy, 62; Epilepsy, familial focal, with variable foci 4 0 0 1 0 1
Developmental and epileptic encephalopathy, 66 1 0 0 0 1
Developmental and epileptic encephalopathy, 67 1 0 0 0 1
Developmental and epileptic encephalopathy, 74 1 0 0 0 1
Developmental and epileptic encephalopathy, 76 0 1 0 0 1
Developmental and epileptic encephalopathy, 79 0 0 1 0 1
Developmental and epileptic encephalopathy, 8 0 1 0 0 1
Developmental and epileptic encephalopathy, 9 1 0 0 0 1
Developmental delay and seizures with or without movement abnormalities 1 0 0 0 1
Developmental delay with autism spectrum disorder and gait instability 0 1 0 0 1
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 0 0 1 0 1
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 0 1 0 1
Diabetes insipidus, nephrogenic, X-linked 1 0 0 0 1
Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome of inappropriate antidiuresis 1 0 0 0 1
Diabetes insipidus, nephrogenic, autosomal 1 0 0 0 1
Diabetes mellitus, permanent neonatal 4 1 0 0 0 1
Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 0 0 1 0 1
Diamond-Blackfan anemia 1 1 0 0 0 1
Diamond-Blackfan anemia 12 0 0 1 0 1
Diencephalic-mesencephalic junction dysplasia syndrome 1 0 1 0 0 1
Diets-Jongmans syndrome 0 0 1 0 1
Dihydropyrimidine dehydrogenase deficiency 0 1 0 0 1
Dilated cardiomyopathy 1BB 0 1 0 0 1
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 0 0 1 0 1
Dilated cardiomyopathy 1P 0 1 0 0 1
Dilated cardiomyopathy 1R 0 1 0 0 1
Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15 0 0 1 0 1
Dilated cardiomyopathy 2A; Cardiomyopathy, familial restrictive, 1; Dilated cardiomyopathy 1FF; Hypertrophic cardiomyopathy 7 1 0 0 0 1
Distal arthrogryposis type 2B1 1 0 0 0 1
Distichiasis-lymphedema syndrome 0 1 0 0 1
Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1 1 0 0 0 1
Duane retraction syndrome 2 0 0 1 0 1
Duane-radial ray syndrome; Oculootoradial syndrome 0 1 0 0 1
Dystonia 24 0 0 1 0 1
Dystonia 30 0 1 0 0 1
Dystonia 31 1 0 0 0 1
Dystonia 5; GTP cyclohydrolase I deficiency with hyperphenylalaninemia 0 1 0 0 1
Early-onset myopathy with fatal cardiomyopathy 0 1 0 0 1
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 1 0 0 1
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 0 1 0 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 1 0 0 1
Ehlers-Danlos syndrome, arthrochalasia type, 2 0 1 0 0 1
Ehlers-Danlos syndrome, classic type, 2 0 1 0 0 1
Ehlers-Danlos syndrome, classic-like, 2 0 1 0 0 1
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 0 0 1 0 1
Ehlers-Danlos syndrome, spondylodysplastic type, 2 0 1 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 1 0 0 0 1
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 1 0 0 1
Enhanced S-cone syndrome; Retinitis pigmentosa 37 0 0 1 0 1
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive 0 1 0 0 1
Epidermolysis bullosa simplex with migratory circinate erythema; Epidermolysis bullosa simplex with mottled pigmentation; Dowling-Degos disease 1; Epidermolysis bullosa simplex 2A, generalized severe; Epidermolysis bullosa simplex 2B, generalized intermediate; Epidermolysis bullosa simplex 2C, localized; Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive 0 0 1 0 1
Epilepsy, familial focal, with variable foci 2 0 0 1 0 1
Epilepsy, familial focal, with variable foci 3 0 1 0 0 1
Epilepsy, familial focal, with variable foci 4 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 0 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 13; Developmental and epileptic encephalopathy, 19 1 0 0 0 1
Episodic ataxia type 1 0 1 0 0 1
Epsilon-trimethyllysine hydroxylase deficiency 0 0 1 0 1
Erythrokeratodermia variabilis et progressiva 4 0 1 0 0 1
Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 1 0 0 0 1
Exudative vitreoretinopathy 1 0 1 0 0 1
FOXG1 disorder 1 0 0 0 1
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 1 0 0 0 1
Factor V and factor VIII, combined deficiency of, type 1 1 0 0 0 1
Factor XIII, b subunit, deficiency of 0 1 0 0 1
Familial Mediterranean fever 1 0 0 0 1
Familial adenomatous polyposis 4 0 1 0 0 1
Familial benign pemphigus 0 1 0 0 1
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Familial prostate cancer; Ovarian cancer 1 0 0 0 1
Familial cancer of breast; CHEK2-related cancer predisposition; Bone osteosarcoma; Familial prostate cancer 1 0 0 0 1
Familial cancer of breast; Hemifacial myohyperplasia; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; CLAPO syndrome; CLOVES syndrome; Ovarian cancer; Cerebral cavernous malformation 4; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer 0 1 0 0 1
Familial cancer of breast; Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 1 0 0 0 1
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Familial pancreatic carcinoma; Gastric cancer; Lung cancer 1 0 0 0 1
Familial cold autoinflammatory syndrome 2 0 0 1 0 1
Familial episodic pain syndrome with predominantly lower limb involvement 1 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 2 0 1 0 0 1
Familial isolated deficiency of vitamin E 0 1 0 0 1
Familial temporal lobe epilepsy 7 0 0 1 0 1
Fanconi anemia complementation group G 1 0 0 0 1
Fanconi anemia complementation group L 0 1 0 0 1
Feingold syndrome type 1; Megalencephaly-polydactyly syndrome 1 0 0 0 1
Fibromatosis, gingival, 1; Noonan syndrome 4 1 0 0 0 1
Focal dermal hypoplasia 1 0 0 0 1
Fraser syndrome 1 0 1 0 0 1
Frasier syndrome 1 0 0 0 1
Frontotemporal dementia 0 0 1 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 1 0 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 0 1 0 0 1
Frontotemporal dementia; Parkinson disease, late-onset; Progressive supranuclear palsy-parkinsonism syndrome; Pick disease; Supranuclear palsy, progressive, 1 1 0 0 0 1
Fructose-biphosphatase deficiency 1 0 0 0 1
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 1 0 0 0 1
GNE myopathy; Sialuria 1 0 0 0 1
Gabriele de Vries syndrome 0 0 1 0 1
Gastrointestinal stromal tumor; Piebaldism; Acute myeloid leukemia; Cutaneous mastocytosis; Germ cell tumor of testis 0 0 1 0 1
Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease perinatal lethal; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 0 1 0 0 1
Generalized dominant dystrophic epidermolysis bullosa 1 0 0 0 1
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 0 1 0 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 0 1 0 1
Glycogen storage disease, type IV 0 1 0 0 1
Glycogen storage disease, type VI 0 1 0 0 1
Glycogen storage disorder due to hepatic glycogen synthase deficiency 0 1 0 0 1
Goldberg-Shprintzen syndrome 0 1 0 0 1
Grange syndrome 0 1 0 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 0 1 0 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 0 1 0 0 1
Greig cephalopolysyndactyly syndrome 0 1 0 0 1
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 0 1 0 0 1
H syndrome 0 1 0 0 1
HSD10 mitochondrial disease 0 1 0 0 1
Hajdu-Cheney syndrome 0 0 1 0 1
Hao-Fountain syndrome due to USP7 mutation 0 0 1 0 1
Hearing loss, autosomal dominant 76 0 0 1 0 1
Hearing loss, autosomal dominant 82 0 1 0 0 1
Hearing loss, autosomal recessive 117 0 0 1 0 1
Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 0 1 0 0 1
Hemochromatosis type 2A 1 0 0 0 1
Hemochromatosis type 3 0 1 0 0 1
Hemochromatosis type 4 0 1 0 0 1
Hemolytic anemia due to glucophosphate isomerase deficiency 0 1 0 0 1
Hennekam lymphangiectasia-lymphedema syndrome 1 0 1 0 0 1
Heparin cofactor II deficiency 0 0 1 0 1
Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 1 0 0 0 1
Hereditary factor IX deficiency disease 0 1 0 0 1
Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect; Warfarin sensitivity, X-linked 1 0 0 0 1
Hereditary fructosuria 1 0 0 0 1
Hereditary insensitivity to pain with anhidrosis 0 1 0 0 1
Hereditary lymphedema type I 0 0 1 0 1
Hereditary spastic paraplegia 10; Myoclonus, intractable, neonatal; Amyotrophic lateral sclerosis, susceptibility to, 25 0 0 1 0 1
Hereditary spastic paraplegia 17; Neuronopathy, distal hereditary motor, type 5C 1 0 0 0 1
Hereditary spastic paraplegia 26 1 0 0 0 1
Hereditary spastic paraplegia 31 1 0 0 0 1
Hereditary spastic paraplegia 3A; Neuropathy, hereditary sensory, type 1D 0 0 1 0 1
Hereditary spastic paraplegia 48 0 1 0 0 1
Hereditary spastic paraplegia 5A 1 0 0 0 1
Hereditary spastic paraplegia 5A; Congenital bile acid synthesis defect 3 0 1 0 0 1
Hermansky-Pudlak syndrome 4 0 1 0 0 1
Hermansky-Pudlak syndrome 5 0 1 0 0 1
Heterotaxy, visceral, 5, autosomal 0 1 0 0 1
Heterotaxy, visceral, 8, autosomal 0 1 0 0 1
Holoprosencephaly 2 0 1 0 0 1
Holoprosencephaly 3 0 1 0 0 1
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 0 0 0 1
Houge-Janssens syndrome 1 0 1 0 0 1
Houge-Janssens syndrome 2 0 1 0 0 1
Houge-Janssens syndrome 3 0 1 0 0 1
Hutchinson-Gilford syndrome 0 1 0 0 1
Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3-related early-onset multisystem autoimmune disease 1 0 0 0 1
Hyper-IgM syndrome type 1 0 0 1 0 1
Hyper-IgM syndrome type 2 0 1 0 0 1
Hypercholesterolemia, familial, 4; Hypercholesterolemia, familial, 1 0 1 0 0 1
Hyperinsulinemic hypoglycemia, familial, 3 0 1 0 0 1
Hyperlipoproteinemia, type I 0 1 0 0 1
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 0 1 0 0 1
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 0 1 0 0 1
Hypertrophic cardiomyopathy 10 0 0 1 0 1
Hypertrophic cardiomyopathy 11 1 0 0 0 1
Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 0 1 0 0 1
Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M 0 0 1 0 1
Hypertrophic cardiomyopathy 2 0 1 0 0 1
Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D 0 1 0 0 1
Hypertrophic cardiomyopathy 3 0 0 1 0 1
Hypertrophic cardiomyopathy 8 0 1 0 0 1
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 1 0 0 0 1
Hyperuricemic nephropathy, familial juvenile type 4 0 0 1 0 1
Hypogonadotropic hypogonadism 13 with or without anosmia 0 1 0 0 1
Hypogonadotropic hypogonadism 16 with or without anosmia 0 0 1 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 1 0 0 0 1
Hypogonadotropic hypogonadism 20 with or without anosmia 0 0 1 0 1
Hypogonadotropic hypogonadism 7 with or without anosmia 0 1 0 0 1
Hypohidrotic X-linked ectodermal dysplasia; Tooth agenesis, selective, X-linked, 1 0 1 0 0 1
Hypokalemic periodic paralysis, type 1 0 1 0 0 1
Hypoparathyroidism-retardation-dysmorphism syndrome; Autosomal recessive Kenny-Caffey syndrome; Encephalopathy, progressive, with amyotrophy and optic atrophy 0 1 0 0 1
Hypospadias 2, X-linked 0 0 1 0 1
Hypotrichosis 6 1 0 0 0 1
Ichthyosis, congenital, autosomal recessive 13 0 0 1 0 1
Immunodeficiency 14 0 0 1 0 1
Immunodeficiency 49; Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 0 1 0 0 1
Immunoglobulin-mediated membranoproliferative glomerulonephritis 1 0 0 0 1
Inclusion body myopathy and brain white matter abnormalities 0 0 1 0 1
Incontinentia pigmenti syndrome 1 0 0 0 1
Infantile hypophosphatasia 0 1 0 0 1
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0 1 0 0 1
Infantile nephronophthisis 0 1 0 0 1
Infantile onset spinocerebellar ataxia; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3; Perrault syndrome 5 0 1 0 0 1
Inherited prekallikrein deficiency 1 0 0 0 1
Inosine triphosphatase deficiency; Developmental and epileptic encephalopathy, 35 1 0 0 0 1
Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinism due to INSR deficiency 0 1 0 0 1
Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinism due to INSR deficiency; Leprechaunism syndrome; Rabson-Mendenhall syndrome 0 1 0 0 1
Intellectual developmental disorder 60 with seizures 0 1 0 0 1
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 0 1 0 0 1
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 0 1 0 0 1
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy 0 0 1 0 1
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 0 1 0 0 1
Intellectual developmental disorder, X-linked, syndromic, Pilorge type 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 64 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 65 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 66 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 67; Intellectual developmental disorder, autosomal recessive 76 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 73 0 1 0 0 1
Intellectual developmental disorder, autosomal recessive 74; Cortical dysplasia, complex, with other brain malformations 10 0 1 0 0 1
Intellectual disability, X-linked 103 0 0 1 0 1
Intellectual disability, X-linked 106 0 0 1 0 1
Intellectual disability, X-linked 21 0 0 1 0 1
Intellectual disability, X-linked 41 0 0 1 0 1
Intellectual disability, X-linked 72 0 0 1 0 1
Intellectual disability, X-linked 72; Early-onset parkinsonism-intellectual disability syndrome 0 0 1 0 1
Intellectual disability, X-linked 90 1 0 0 0 1
Intellectual disability, X-linked 99 0 1 0 0 1
Intellectual disability, X-linked syndromic, Turner type 0 0 1 0 1
Intellectual disability, X-linked, syndromic, 35 0 0 1 0 1
Intellectual disability, autosomal dominant 1 0 1 0 0 1
Intellectual disability, autosomal dominant 13 1 0 0 0 1
Intellectual disability, autosomal dominant 47 1 0 0 0 1
Intellectual disability, autosomal dominant 54 1 0 0 0 1
Intellectual disability, autosomal dominant 55, with seizures 0 1 0 0 1
Intellectual disability, autosomal recessive 18 0 1 0 0 1
Intellectual disability, autosomal recessive 5 0 1 0 0 1
Intellectual disability, autosomal recessive 66 1 0 0 0 1
Intellectual disability, autosomal recessive 7 0 1 0 0 1
Interstitial lung disease 2 0 1 0 0 1
Interstitial lung disease due to ABCA3 deficiency 1 0 0 0 1
Intestinal hypomagnesemia 1 1 0 0 0 1
Islet cell adenomatosis 0 0 1 0 1
Isolated congenital digital clubbing; Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 1 0 0 0 1
Isolated cryptophthalmia; Fraser syndrome 2 0 1 0 0 1
Isolated focal cortical dysplasia type II; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 0 0 0 1
Johanson-Blizzard syndrome 0 1 0 0 1
Joubert syndrome 27 0 1 0 0 1
Joubert syndrome 2; Meckel syndrome, type 2 0 1 0 0 1
Karyomegalic interstitial nephritis 0 1 0 0 1
Kilquist syndrome; Hearing loss, autosomal dominant 78; Delpire-McNeill syndrome 0 0 1 0 1
Kleefstra syndrome 1 0 0 1 0 1
Kniest dysplasia 1 0 0 0 1
LZTR1-related schwannomatosis; Noonan syndrome 10 1 0 0 0 1
Lambdoidal craniosynostosis; Chitayat syndrome 1 0 0 0 1
Larsen syndrome 0 1 0 0 1
Lattice corneal dystrophy Type I 1 0 0 0 1
Leber congenital amaurosis 1 1 0 0 0 1
Leber congenital amaurosis with early-onset deafness 1 0 0 0 1
Leprechaunism syndrome 0 1 0 0 1
Leri-Weill dyschondrosteosis; SHOX-related short stature; Langer mesomelic dysplasia syndrome 0 0 1 0 1
Lethal Kniest-like syndrome; Schwartz-Jampel syndrome type 1 0 1 0 0 1
Lethal congenital glycogen storage disease of heart; Hypertrophic cardiomyopathy 6; Wolff-Parkinson-White pattern 0 0 1 0 1
Lethal multiple pterygium syndrome; Congenital myasthenic syndrome 3A; Congenital myasthenic syndrome 3B; Congenital myasthenic syndrome 3C 0 1 0 0 1
Leukodystrophy and acquired microcephaly with or without dystonia; 1 0 0 0 1
Leukoencephalopathy with vanishing white matter 1 0 1 0 0 1
Leukoencephalopathy with vanishing white matter 2 1 0 0 0 1
Li-Ghorbani-Weisz-Hubshman syndrome 0 1 0 0 1
Liang-Wang syndrome 0 0 1 0 1
Linear skin defects with multiple congenital anomalies 3; Mitochondrial complex I deficiency, nuclear type 30 0 1 0 0 1
Lipase deficiency, combined 0 1 0 0 1
Lissencephaly 9 with complex brainstem malformation 0 0 1 0 1
Lissencephaly due to LIS1 mutation 0 1 0 0 1
Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Colorectal cancer, hereditary nonpolyposis, type 6 0 0 1 0 1
Long QT syndrome 13; Familial hyperaldosteronism type III 0 0 1 0 1
Long QT syndrome 3 1 0 0 0 1
Low phospholipid associated cholelithiasis 0 0 1 0 1
Lowe syndrome 0 1 0 0 1
Lymphatic malformation 12 0 0 1 0 1
Lysinuric protein intolerance 1 0 0 0 1
MEGF8-related Carpenter syndrome 0 1 0 0 1
MHC class I deficiency 2 0 1 0 0 1
MPDU1-congenital disorder of glycosylation 0 1 0 0 1
Macrocephaly, acquired, with impaired intellectual development 0 1 0 0 1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 0 1 0 1
Macrothrombocytopenia, isolated, 1, autosomal dominant 0 1 0 0 1
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 1 0 0 1
Macular corneal dystrophy 0 1 0 0 1
Malignant hyperthermia, susceptibility to, 5 0 1 0 0 1
Marshall-Smith syndrome; Malan overgrowth syndrome 0 1 0 0 1
Maturity-onset diabetes of the young type 1 1 0 0 0 1
Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 1 0 0 0 1
Maturity-onset diabetes of the young type 2 1 0 0 0 1
Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1; Type 2 diabetes mellitus 0 0 1 0 1
Maturity-onset diabetes of the young type 8 0 0 1 0 1
Meckel syndrome 13; Orofaciodigital syndrome 16 0 1 0 0 1
Meckel syndrome, type 6; Joubert syndrome 9 0 0 1 0 1
Medulloblastoma; Pilomatrixoma; Ovarian cancer; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Colorectal cancer; Exudative vitreoretinopathy 7 0 1 0 0 1
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 0 0 1 0 1
Meier-Gorlin syndrome 3 0 1 0 0 1
Meier-Gorlin syndrome 6 0 0 1 0 1
Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II 0 1 0 0 1
Metaphyseal chondrodysplasia, Spahr type; Spondyloepimetaphyseal dysplasia, Missouri type 1 0 0 0 1
Methylmalonic aciduria, cblA type 1 0 0 0 1
Methylmalonic aciduria, cblB type 0 1 0 0 1
Mevalonic aciduria; Hyperimmunoglobulin D with periodic fever 1 0 0 0 1
Microcephaly 1, primary, autosomal recessive 0 1 0 0 1
Microcephaly 18, primary, autosomal dominant 0 1 0 0 1
Microcephaly and chorioretinopathy 1 0 1 0 0 1
Microcephaly, growth restriction, and increased sister chromatid exchange 2; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 0 1 0 0 1
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0 1 0 0 1
Microcephaly-micromelia syndrome; Microcephaly, short stature, and limb abnormalities 0 1 0 0 1
Migraine, familial hemiplegic, 2 0 1 0 0 1
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant 0 0 1 0 1
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 1 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 5 1 0 0 0 1
Mitochondrial complex IV deficiency, nuclear type 1 1 0 0 0 1
Mitochondrial complex IV deficiency, nuclear type 11 1 0 0 0 1
Mitochondrial complex IV deficiency, nuclear type 1; Charcot-Marie-Tooth disease type 4K 1 0 0 0 1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 0 1 0 0 1
Miyoshi muscular dystrophy 3 1 0 0 0 1
Monosomy 7 myelodysplasia and leukemia syndrome 1; Ataxia-pancytopenia syndrome 0 1 0 0 1
Mucopolysaccharidosis type 7 0 0 1 0 1
Multicentric osteolysis, nodulosis, and arthropathy 0 1 0 0 1
Multiple benign circumferential skin creases on limbs 1; Complex cortical dysplasia with other brain malformations 6 0 1 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 1 0 0 1
Multiple endocrine neoplasia type 2B 1 0 0 0 1
Multiple endocrine neoplasia type 2B; Pheochromocytoma; Multiple endocrine neoplasia type 2A 1 0 0 0 1
Multiple endocrine neoplasia type 4 0 1 0 0 1
Multiple mitochondrial dysfunctions syndrome 3; Hereditary spastic paraplegia 74 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 1 0 0 0 1
Myasthenic syndrome, congenital, 22 0 1 0 0 1
Myhre syndrome 1 0 0 0 1
Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Familial pancreatic carcinoma; Juvenile polyposis syndrome 0 1 0 0 1
Myocardial infarction, susceptibility to; Glanzmann thrombasthenia 2; Bleeding disorder, platelet-type, 24 1 0 0 0 1
Myoclonic dystonia 11 0 1 0 0 1
Myofibrillar myopathy 4 0 0 1 0 1
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement 0 0 1 0 1
Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26 0 1 0 0 1
Myopathy with abnormal lipid metabolism 1 0 0 0 1
Myopathy, myofibrillar, 9, with early respiratory failure 0 0 1 0 1
Myopathy, proximal, and ophthalmoplegia 0 1 0 0 1
Myopia 21, autosomal dominant 0 0 0 1 1
Myopia 24, autosomal dominant 0 1 0 0 1
Myopia 27 0 0 1 0 1
Myopia, high, with cataract and vitreoretinal degeneration 0 1 0 0 1
NEK9-related lethal skeletal dysplasia 1 0 0 0 1
Nager syndrome 1 0 0 0 1
Nail-patella syndrome 1 0 0 0 1
Nail-patella syndrome; Nail-patella-like renal disease 0 0 1 0 1
Nanophthalmos 1; Encephalitis/encephalopathy, mild, with reversible myelin vacuolization; Cardiac-urogenital syndrome 0 0 1 0 1
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Spastic ataxia 10, autosomal recessive 1 0 0 0 1
Neonatal pseudo-hydrocephalic progeroid syndrome; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 0 1 0 0 1
Nephrogenic syndrome of inappropriate antidiuresis 1 0 0 0 1
Nephronophthisis 20 0 0 1 0 1
Neural tube defects, susceptibility to 0 0 1 0 1
Neuroblastoma, susceptibility to, 2; Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 1 0 0 0 1
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0 1 0 0 1
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 0 1 0 0 1
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0 1 0 0 1
Neurodevelopmental disorder with or without autism or seizures 1 0 0 0 1
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 0 0 1 0 1
Neurodevelopmental disorder with or without seizures and gait abnormalities 0 0 1 0 1
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 0 1 0 1
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0 0 1 0 1
Neurodevelopmental disorder with severe motor impairment and absent language 0 0 1 0 1
Neurodevelopmental disorder with speech impairment and with or without seizures 0 0 1 0 1
Neurodevelopmental disorder with visual defects and brain anomalies 0 0 1 0 1
Neurodevelopmental, jaw, eye, and digital syndrome 0 1 0 0 1
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 0 1 0 0 1
Neuronal ceroid lipofuscinosis 10 1 0 0 0 1
Neuronal ceroid lipofuscinosis 2 1 0 0 0 1
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant; Neuronal ceroid lipofuscinosis 8 0 1 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 7 1 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 8 1 0 0 0 1
Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome 0 1 0 0 1
Niemann-Pick disease, type B; Niemann-Pick disease, type A 0 1 0 0 1
Noonan syndrome 10 1 0 0 0 1
Noonan syndrome 11 0 0 1 0 1
Noonan syndrome 4 0 1 0 0 1
Noonan syndrome 5 0 1 0 0 1
Normophosphatemic familial tumoral calcinosis; MIRAGE syndrome; Monosomy 7 myelodysplasia and leukemia syndrome 2 0 0 1 0 1
Occult macular dystrophy 0 0 1 0 1
Occult macular dystrophy; Retinitis pigmentosa 88 0 0 1 0 1
Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 1 0 0 0 1
Oculocerebrofacial syndrome, Kaufman type 0 1 0 0 1
Oculocutaneous albinism type 3; MELANESIAN BLOND HAIR 0 1 0 0 1
Oculofaciocardiodental syndrome 0 1 0 0 1
Oculopharyngeal muscular dystrophy 1 0 0 1 0 1
Oculotrichoanal syndrome; BNAR syndrome 0 1 0 0 1
Oculotrichoanal syndrome; BNAR syndrome; Trigonocephaly 2 0 0 1 0 1
Odonto-onycho-dermal dysplasia; Schöpf-Schulz-Passarge syndrome; Tooth agenesis, selective, 4 1 0 0 0 1
Oocyte maturation defect 13 0 1 0 0 1
Oocyte maturation defect 5 1 0 0 0 1
Oocyte maturation defect 7 0 0 1 0 1
Optic atrophy 12 1 0 0 0 1
Osteodysplastic primordial dwarfism, type 1; Lowry-Wood syndrome; Roifman syndrome 1 0 0 0 1
Osteogenesis imperfecta type 16 1 0 0 0 1
Osteogenesis imperfecta type 5 1 0 0 0 1
Osteogenesis imperfecta type 7 1 0 0 0 1
Osteogenesis imperfecta type I 1 0 0 0 1
Osteogenesis imperfecta type III 0 1 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 0 1 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 1 0 0 0 1
Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III 0 1 0 0 1
Ovarian dysgenesis 5 0 0 1 0 1
Ovarian dysgenesis 5; Spermatogenic failure 32 0 0 1 0 1
PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome type 4C 0 0 1 0 1
PGM1-congenital disorder of glycosylation 1 0 0 0 1
PHGDH deficiency 0 1 0 0 1
PULMONARY ALVEOLAR MICROLITHIASIS 1 0 0 0 1
Pachyonychia congenita 2; Steatocystoma multiplex 1 0 0 0 1
Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 1 0 0 0 1
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1 0 0 0 1
Parenti-mignot neurodevelopmental syndrome 0 1 0 0 1
Parkinsonian-pyramidal syndrome 0 1 0 0 1
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome 0 0 1 0 1
Pelger-Huët anomaly; Greenberg dysplasia; Reynolds syndrome; Regressive spondylometaphyseal dysplasia 1 0 0 0 1
Pelizaeus-Merzbacher disease 0 1 0 0 1
Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2 0 1 0 0 1
Peroxisome biogenesis disorder 5A (Zellweger); Peroxisome biogenesis disorder 5B 0 1 0 0 1
Perrault syndrome 4; Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome 0 1 0 0 1
Persistent Mullerian duct syndrome 0 1 0 0 1
Peters plus syndrome 0 1 0 0 1
Pfeiffer syndrome 1 0 0 0 1
Phelan-McDermid syndrome; Schizophrenia 15 0 1 0 0 1
Pheochromocytoma/paraganglioma syndrome 4; Pheochromocytoma 1 0 0 0 1
Phosphate transport defect; Glucose-6-phosphate transport defect 0 0 1 0 1
Piebaldism 0 1 0 0 1
Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 0 1 0 0 1
Pili torti-deafness syndrome 1 0 0 0 1
Pili torti-deafness syndrome; GRACILE syndrome; Mitochondrial complex III deficiency nuclear type 1 1 0 0 0 1
Pituitary hormone deficiency, combined, 2 0 1 0 0 1
Plasminogen deficiency, type I 0 1 0 0 1
Platelet-type bleeding disorder 10 0 1 0 0 1
Platelet-type bleeding disorder 15 0 0 1 0 1
Platelet-type bleeding disorder 16; Fetomaternal alloimmune thrombocytopenia 2 0 0 1 0 1
Polycystic kidney disease 3 with or without polycystic liver disease 0 0 1 0 1
Polyposis syndrome, hereditary mixed, 2; Juvenile polyposis syndrome 0 1 0 0 1
Pontocerebellar hypoplasia type 1A; Neuronopathy, distal hereditary motor, autosomal recessive 10 1 0 0 0 1
Pontocerebellar hypoplasia type 2B 0 1 0 0 1
Pontocerebellar hypoplasia type 6 0 1 0 0 1
Pontocerebellar hypoplasia type 8 0 1 0 0 1
Porokeratosis 1, Mibelli type 0 0 1 0 1
Porokeratosis 7, multiple types 1 0 0 0 1
Posterior polymorphous corneal dystrophy 3; Corneal dystrophy, Fuchs endothelial, 6 0 0 1 0 1
Potassium-aggravated myotonia 1 0 0 0 1
Predisposition to invasive fungal disease due to CARD9 deficiency 0 1 0 0 1
Preimplantation embryonic lethality 1 0 1 0 0 1
Premature ovarian failure 6 0 0 1 0 1
Premature ovarian failure 7 0 0 1 0 1
Primary ciliary dyskinesia 11 0 1 0 0 1
Primary ciliary dyskinesia 12 0 1 0 0 1
Primary ciliary dyskinesia 14 0 1 0 0 1
Primary ciliary dyskinesia 2 0 0 1 0 1
Primary ciliary dyskinesia 22 1 0 0 0 1
Primary erythromelalgia 0 0 1 0 1
Primary erythromelalgia; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 0 1 0 1
Primary familial polycythemia due to EPO receptor mutation; Acquired polycythemia vera; Budd-Chiari syndrome; Primary myelofibrosis; Acute myeloid leukemia; Thrombocythemia 3 1 0 0 0 1
Primary hypomagnesemia 0 1 0 0 1
Progressive familial heart block type IB 0 0 1 0 1
Progressive familial heart block, type 1A 0 0 1 0 1
Progressive familial intrahepatic cholestasis type 3; Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3 0 1 0 0 1
Progressive myoclonic epilepsy type 7 0 0 1 0 1
Progressive pseudorheumatoid dysplasia 0 1 0 0 1
Proline dehydrogenase deficiency; Schizophrenia 4 0 1 0 0 1
Prolonged electroretinal response suppression 1 0 1 0 0 1
Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17 0 1 0 0 1
Proximal myopathy with extrapyramidal signs 0 1 0 0 1
Pulmonary hypertension, primary, 2 0 1 0 0 1
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 1 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 1
Pyruvate dehydrogenase E3-binding protein deficiency 0 1 0 0 1
RFT1-congenital disorder of glycosylation 0 1 0 0 1
Radial aplasia-thrombocytopenia syndrome 1 0 0 0 1
Radio-Tartaglia syndrome 0 1 0 0 1
Rafiq syndrome 0 1 0 0 1
Rahman syndrome 0 0 1 0 1
Rajab interstitial lung disease with brain calcifications 1 0 1 0 0 1
Rauch-Steindl syndrome 1 0 0 0 1
Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 0 1 0 0 1
Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma 0 1 0 0 1
Renal hypodysplasia/aplasia 1 0 1 0 0 1
Renal hypodysplasia/aplasia 3 0 1 0 0 1
Renal hypodysplasia/aplasia 3; Hearing loss, autosomal dominant 80 0 0 1 0 1
Renal hypomagnesemia 6; Hypomagnesemia, seizures, and intellectual disability 1 0 0 1 0 1
Renal tubular acidosis, distal, 4, with hemolytic anemia 1 0 0 0 1
Renpenning syndrome 1 0 0 0 1
Reticular dysgenesis 0 1 0 0 1
Reticulate acropigmentation of Kitamura 0 0 1 0 1
Retinal dystrophy with or without macular staphyloma 0 1 0 0 1
Retinitis pigmentosa 10; Leber congenital amaurosis 11 0 0 1 0 1
Retinitis pigmentosa 13 1 0 0 0 1
Retinitis pigmentosa 3 0 1 0 0 1
Retinitis pigmentosa 47; Oguchi disease-1; Retinitis pigmentosa 96 0 1 0 0 1
Retinitis pigmentosa 49 1 0 0 0 1
Retinitis pigmentosa 61; Usher syndrome type 3A 0 0 1 0 1
Retinitis pigmentosa 62 0 1 0 0 1
Retinitis pigmentosa 92 0 1 0 0 1
Rhizomelic chondrodysplasia punctata type 1 0 0 1 0 1
Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B 0 1 0 0 1
Ritscher-Schinzel syndrome 4 0 0 1 0 1
Rotor syndrome 1 0 0 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 0 0 0 1
SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 with lymphoproliferation 1 0 0 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 0 1 0 0 1
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 0 1 0 0 1
SSR4-congenital disorder of glycosylation 1 0 0 0 1
Sandestig-stefanova syndrome 0 1 0 0 1
Sandhoff disease 0 1 0 0 1
Sarcotubular myopathy; Bardet-Biedl syndrome 11 0 0 1 0 1
Schimke immuno-osseous dysplasia 1 0 0 0 1
Seckel syndrome 1 0 1 0 0 1
Seckel syndrome 1; Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 0 1 0 0 1
Seckel syndrome 5; Microcephaly 9, primary, autosomal recessive 0 0 1 0 1
Seizures, benign familial infantile, 3 0 1 0 0 1
Seizures, benign familial infantile, 5 1 0 0 0 1
Seizures, benign familial neonatal, 2 0 0 1 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 1 0 0 0 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 1 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 0 1
Severe myoclonic epilepsy in infancy 0 1 0 0 1
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 1 0 0 0 1
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0 0 1 0 1
Short stature, microcephaly, and endocrine dysfunction 0 1 0 0 1
Short stature-optic atrophy-Pelger-Huët anomaly syndrome; Infantile liver failure syndrome 2 0 1 0 0 1
Short-rib thoracic dysplasia 13 with or without polydactyly; Joubert syndrome 31 0 1 0 0 1
Shwachman-Diamond syndrome 1 1 0 0 0 1
Silver-russell syndrome 4 0 1 0 0 1
Simpson-Golabi-Behmel syndrome type 1 1 0 0 0 1
Smith-Lemli-Opitz syndrome 1 0 0 0 1
Snijders blok-fisher syndrome 0 0 1 0 1
Somatotroph adenoma 0 1 0 0 1
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 0 1 0 0 1
Spastic paraplegia 88, autosomal dominant 0 0 1 0 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity; Ventriculomegaly and arthrogryposis 0 0 1 0 1
Spermatogenic failure 10 0 0 1 0 1
Spermatogenic failure 12 0 0 1 0 1
Spermatogenic failure 19 0 1 0 0 1
Spermatogenic failure 22; Premature ovarian failure 23 0 1 0 0 1
Spermatogenic failure 23 0 0 1 0 1
Spermatogenic failure 27 0 0 1 0 1
Spermatogenic failure 3 0 0 1 0 1
Spermatogenic failure 39 0 1 0 0 1
Spermatogenic failure 42 0 1 0 0 1
Spermatogenic failure 43 1 0 0 0 1
Spermatogenic failure 45 0 0 1 0 1
Spermatogenic failure 6 0 0 1 0 1
Spermatogenic failure 78 0 0 1 0 1
Spermatogenic failure 86 0 1 0 0 1
Spinal muscular atrophy, infantile, James type 0 0 1 0 1
Spinocerebellar ataxia type 11 0 0 1 0 1
Spinocerebellar ataxia type 19/22 0 0 1 0 1
Spinocerebellar ataxia type 19/22; Brugada syndrome 9 0 0 1 0 1
Spinocerebellar ataxia type 29; Spinocerebellar ataxia type 15/16; Gillespie syndrome 0 0 1 0 1
Spinocerebellar ataxia type 35 0 0 1 0 1
Spinocerebellar ataxia type 5 0 1 0 0 1
Spinocerebellar ataxia, autosomal recessive 30 1 0 0 0 1
Split hand-foot malformation 1 0 0 1 0 1
Split hand-foot malformation 4 1 0 0 0 1
Split hand-foot malformation 6 0 1 0 0 1
Spondyloperipheral dysplasia 1 0 0 0 1
Spongy degeneration of central nervous system 1 0 0 0 1
Stargardt disease 4; Retinitis pigmentosa 41; Cone-rod dystrophy 12; Retinal macular dystrophy type 2 1 0 0 0 1
Stickler syndrome type 1; Stickler syndrome, type I, nonsyndromic ocular 1 0 0 0 1
Stickler syndrome type 2 0 0 1 0 1
Stromme syndrome 0 1 0 0 1
Supravalvar aortic stenosis 0 1 0 0 1
Syndromic X-linked intellectual disability Hedera type; X-linked parkinsonism-spasticity syndrome; Congenital disorder of glycosylation, type IIr 0 0 1 0 1
Syndromic X-linked intellectual disability Najm type 0 1 0 0 1
Syndromic X-linked intellectual disability Siderius type 0 1 0 0 1
Syndromic microphthalmia type 5; Pituitary hormone deficiency, combined, 6 0 1 0 0 1
Synpolydactyly type 1 1 0 0 0 1
Synpolydactyly type 2 0 0 1 0 1
TARP syndrome 0 1 0 0 1
Tarsal-carpal coalition syndrome 0 1 0 0 1
Thanatophoric dysplasia type 1 1 0 0 0 1
Thanatophoric dysplasia, type 2 1 0 0 0 1
Thrombocythemia 1; Primary myelofibrosis 1 0 0 0 1
Timothy syndrome 0 0 1 0 1
Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8 0 1 0 0 1
Transcobalamin II deficiency 0 1 0 0 1
Treacher Collins syndrome 3; Hypomyelinating leukodystrophy 11 0 1 0 0 1
Treacher Collins syndrome 4 0 0 1 0 1
Trichohepatoenteric syndrome 2 1 0 0 0 1
Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I 0 0 1 0 1
Trichothiodystrophy 1, photosensitive 1 0 0 0 1
Trichothiodystrophy 4, nonphotosensitive 0 1 0 0 1
Trimethylaminuria 1 0 0 0 1
Turnpenny-fry syndrome 1 0 0 0 1
Type 2 diabetes mellitus; High density lipoprotein cholesterol level quantitative trait locus 12; Hyperlipidemia due to hepatic triglyceride lipase deficiency 0 0 1 0 1
UDPglucose-4-epimerase deficiency; Thrombocytopenia 13, syndromic 0 1 0 0 1
Ulnar-mammary syndrome 0 1 0 0 1
Usher syndrome type 1G 0 1 0 0 1
Usher syndrome type 2C; Usher syndrome type 2A; Hearing loss, autosomal recessive 57 0 1 0 0 1
Vas deferens, congenital bilateral aplasia of, X-linked 0 0 1 0 1
Vertebral, cardiac, tracheoesophageal, renal, and limb defects 0 0 1 0 1
Visceral myopathy 1; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 1 0 0 0 1
Vitamin D-dependent rickets, type 1A 0 1 0 0 1
Waardenburg syndrome type 1 0 1 0 0 1
Weaver syndrome 1 0 0 0 1
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency; Granulomatous disease, chronic, X-linked 0 1 0 0 1
X-linked Opitz G/BBB syndrome 1 0 0 0 1
X-linked agammaglobulinemia 1 0 0 0 1
X-linked dystonia-parkinsonism; Intellectual disability, X-linked, syndromic 33 0 0 1 0 1
X-linked intellectual disability Cabezas type 1 0 0 0 1
X-linked intellectual disability, Cantagrel type 0 1 0 0 1
X-linked intellectual disability, van Esch type 0 0 1 0 1
Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3 0 1 0 0 1
von Willebrand disease type 1 1 0 0 0 1

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