ClinVar Miner

Variants from Genomic Research Center, Shahid Beheshti University of Medical Sciences

Location: Iran  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 not provided total
546 304 1271 86 54 28 2280

Gene and significance breakdown #

Total genes and gene combinations: 1283
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRCA1 11 0 0 3 7 7 26
BRCA2 14 0 5 1 3 3 25
ITGB2 10 2 0 0 6 7 25
TTN 5 2 15 0 0 0 22
RYR1 3 1 15 1 0 0 20
SYNE1 6 1 12 0 0 0 19
CFTR 11 1 1 0 0 0 13
EDAR, RANBP2 1 1 4 1 3 1 11
LAMA2 4 0 6 0 0 0 10
CACNA1G 0 0 6 1 1 0 8
COL6A3 2 2 4 0 0 0 8
MECP2 3 1 1 2 1 0 8
PIEZO2 1 0 6 1 0 0 8
PLA2G6 2 4 2 0 0 0 8
POLG 3 2 3 0 0 0 8
CACNA1A 1 0 6 0 0 0 7
CC2D2A 4 1 2 0 0 0 7
COL6A2 1 2 3 1 0 0 7
GLDC 4 0 3 0 0 0 7
LMNA 2 2 2 0 1 0 7
MYH7 2 2 2 1 0 0 7
SYNE2 0 0 7 0 0 0 7
ADGRV1 0 0 6 0 1 0 6
AGL 3 1 1 1 0 0 6
ASPM 1 1 2 2 0 0 6
CHEK2 0 1 4 1 0 0 6
HERC2 1 1 4 0 0 0 6
IFIH1 1 1 4 0 0 0 6
KMT2A 3 2 1 0 0 0 6
MYH14 0 0 4 1 0 1 6
NAGLU 4 1 1 0 0 0 6
NALCN 3 0 3 0 0 0 6
NEB 1 0 5 0 0 0 6
SGSH 5 1 0 0 0 0 6
VPS13B 4 1 1 0 0 0 6
AR 0 1 4 0 0 0 5
ATP7B 2 0 3 0 0 0 5
CCDC88C 0 0 5 0 0 0 5
CDH23 1 2 2 0 0 0 5
CHKB, CHKB-CPT1B 1 0 2 2 0 0 5
CLN6 3 1 1 0 0 0 5
COL12A1 0 1 4 0 0 0 5
COL6A1 1 0 3 0 1 0 5
DMD 2 0 1 0 2 0 5
ERCC2 1 1 3 0 0 0 5
FLNA 0 0 5 0 0 0 5
FLNC 0 0 5 0 0 0 5
GALC 3 1 0 0 1 0 5
GLB1 4 1 0 0 0 0 5
GUCY2D 3 0 2 0 0 0 5
HBB, LOC106099062, LOC107133510 5 0 0 0 0 0 5
HEXA 2 2 1 0 0 0 5
KIF1A 0 2 3 0 0 0 5
KMT2D 1 0 3 0 1 0 5
LRP5 0 5 0 0 0 0 5
MMACHC 4 0 1 0 0 0 5
MMUT 2 2 1 0 0 0 5
PAH 2 3 0 0 0 0 5
PCDH15 1 2 2 0 0 0 5
PYGM 1 1 3 0 0 0 5
ABCC8 1 1 2 0 0 0 4
ACADS 1 2 0 0 1 0 4
ADCY5 0 0 4 0 0 0 4
ALOX12B 1 2 1 0 0 0 4
ARL13B 0 0 4 0 0 0 4
ARSA 1 2 2 0 0 0 4
ATP7A 0 2 2 0 0 0 4
ATRIP, ATRIP-TREX1, TREX1 1 1 2 0 0 0 4
BBS9 3 0 1 0 0 0 4
BRCA1, LOC126862571 2 0 0 0 1 1 4
CBS 2 2 0 0 0 0 4
CCDST, FLG 1 1 2 0 0 0 4
CEP290 2 0 2 0 0 0 4
COL7A1 2 2 0 0 0 0 4
CYP2U1 2 0 2 0 0 0 4
DHTKD1 1 1 2 0 0 0 4
DST 0 1 3 0 0 0 4
DYSF 1 1 2 0 0 0 4
ERCC6 3 0 1 0 0 0 4
FAT4 0 0 4 0 0 0 4
FIG4 1 0 3 0 0 0 4
GAA 3 1 0 0 0 0 4
GALNS 2 2 0 0 0 0 4
GBA1, LOC106627981 3 1 0 0 0 0 4
GCDH 1 2 1 0 0 0 4
HSPG2 0 0 4 0 0 0 4
IDUA 3 1 0 0 0 0 4
KANSL1 0 0 4 0 0 0 4
LAMB1 0 0 3 1 0 0 4
MED12 0 0 4 0 0 0 4
MED13L 0 0 3 1 0 0 4
MMAA 1 1 2 0 0 0 4
MPDZ 0 0 4 0 0 0 4
MTHFR 1 3 0 0 0 0 4
MYH3 0 0 4 0 0 0 4
MYO18B 0 1 2 1 0 0 4
NF1 4 0 0 0 0 0 4
NSD1 0 0 3 1 0 0 4
PHGDH 1 2 1 0 0 0 4
PHKA2 0 1 3 0 0 0 4
PIGN 0 1 3 0 0 0 4
PLOD1 1 0 3 0 0 0 4
PPT1 1 1 2 0 0 0 4
PRX 2 0 2 0 0 0 4
SAMD9 2 1 1 0 0 0 4
SCN1A, SCN9A 0 0 3 1 0 0 4
SHROOM4 0 0 4 0 0 0 4
SLC22A5 3 1 0 0 0 0 4
SURF1 2 1 1 0 0 0 4
TRIOBP 0 0 3 0 0 1 4
VARS2 0 0 4 0 0 0 4
ABCA3 1 0 2 0 0 0 3
ABCA4 2 1 0 0 0 0 3
ABCC6 0 0 3 0 0 0 3
ACAD9 1 0 2 0 0 0 3
AHDC1 1 0 2 0 0 0 3
ALG13 0 0 3 0 0 0 3
ALMS1 0 0 2 0 1 0 3
ANKLE2 0 0 3 0 0 0 3
ANO5 1 0 2 0 0 0 3
ASNS, CZ1P-ASNS 0 2 1 0 0 0 3
ASPA, SPATA22 3 0 0 0 0 0 3
ASXL1 0 0 3 0 0 0 3
ATAD3A 0 0 3 0 0 0 3
ATL1 0 2 1 0 0 0 3
BBS7 1 2 0 0 0 0 3
BCKDHA 2 1 0 0 0 0 3
BCOR 0 2 1 0 0 0 3
BICD2 0 0 3 0 0 0 3
CACNA1S 0 0 3 0 0 0 3
CC2D1A 0 0 3 0 0 0 3
CC2D2A, FBXL5 1 1 1 0 0 0 3
CDKL5 2 0 0 1 0 0 3
CEP152 0 1 2 0 0 0 3
CERS1, GDF1 2 0 1 0 0 0 3
CLCN1 0 0 3 0 0 0 3
CLN5 1 0 2 0 0 0 3
COL18A1 1 1 1 0 0 0 3
COL9A3 0 0 3 0 0 0 3
COQ4 0 1 2 0 0 0 3
CPT2 1 0 2 0 0 0 3
CREBBP 1 0 2 0 0 0 3
DDHD2 2 0 1 0 0 0 3
DHCR7 2 1 0 0 0 0 3
DONSON 1 0 2 0 0 0 3
FOXRED1 0 1 2 0 0 0 3
G6PC1 2 1 0 0 0 0 3
GBA2 0 0 3 0 0 0 3
GLYCTK 0 1 2 0 0 0 3
HACE1 1 1 1 0 0 0 3
HGSNAT 2 0 1 0 0 0 3
ITPR1 0 1 1 0 1 0 3
IVD 0 3 0 0 0 0 3
JAG1 2 0 0 1 0 0 3
KAT6A 0 0 2 1 0 0 3
KCNT1 0 0 3 0 0 0 3
LAMA1 0 0 3 0 0 0 3
LIX1L, LOC126805851, RBM8A 1 1 0 0 1 0 3
LOC109611589, RUNX2 1 0 3 0 0 0 3
MCCC1 0 0 3 0 0 0 3
MFN2 0 2 1 0 0 0 3
MLC1 0 0 3 0 0 0 3
MOCS1 1 1 1 0 0 0 3
MUTYH 2 1 0 0 0 0 3
MYO15A 0 1 1 0 1 0 3
NEB, RIF1 2 1 0 0 0 0 3
NEDD4L 1 0 2 0 0 0 3
NIPBL 1 1 0 1 0 0 3
NUBPL 0 0 2 1 0 0 3
OTOA 0 0 3 0 0 0 3
OTOF 0 0 3 0 0 0 3
PCCB 1 0 2 0 0 0 3
PEX12 1 1 1 0 0 0 3
PIGO 1 0 2 0 0 0 3
PLEC 0 0 3 0 0 0 3
POGZ 1 0 2 0 0 0 3
POLG, POLGARF 0 0 2 0 1 0 3
PRODH 1 0 1 0 1 0 3
SACS 3 0 0 0 0 0 3
SBF1 0 1 2 0 0 0 3
SCN2A 0 0 1 2 0 0 3
SDHA 0 1 2 0 0 0 3
SETBP1 0 0 3 0 0 0 3
SETX 0 0 3 0 0 0 3
SLC16A2 1 0 2 0 0 0 3
SLC26A4 1 2 1 0 0 0 3
SLC5A2 0 0 3 0 0 0 3
SLC6A19 0 0 3 0 0 0 3
SMPD1 0 1 2 0 0 0 3
SPG11 3 0 0 0 0 0 3
SPR 2 0 1 0 0 0 3
SUMF1 1 2 0 0 0 0 3
SYNJ1 1 0 2 0 0 0 3
TBCD 0 0 3 0 0 0 3
TBCK 0 2 1 0 0 0 3
TCIRG1 1 0 2 0 0 0 3
TMEM67 2 0 1 0 0 0 3
TNXB 0 0 3 0 0 0 3
TSC2 0 0 3 0 0 0 3
UNC80 0 1 2 0 0 0 3
USH1C 0 2 1 0 0 0 3
USH2A 1 1 1 0 0 0 3
WFS1 1 1 1 0 0 0 3
WNK1 1 0 2 0 0 0 3
ZSWIM6 0 0 3 0 0 0 3
​intergenic 0 0 0 0 1 1 2
A2ML1 0 0 2 0 0 0 2
AAAS 1 1 0 0 0 0 2
ABCA1 0 0 2 0 0 0 2
ABCB11 0 0 2 0 0 0 2
ABCB4 1 0 1 0 0 0 2
ABCD1, PLXNB3 1 0 1 0 0 0 2
ABCD4 0 0 1 1 0 0 2
ABHD14A-ACY1, ACY1 1 1 0 0 0 0 2
ACADM 1 1 0 0 0 0 2
AFG2A 0 0 2 0 0 0 2
AFG3L2 1 0 1 0 0 0 2
AGA 0 0 2 0 0 0 2
AGXT 0 0 2 0 0 0 2
AHNAK 0 0 2 0 0 0 2
AKR1D1 2 0 0 0 0 0 2
ALDH3A2 0 1 1 0 0 0 2
ALDH5A1 2 0 0 0 0 0 2
ALG12 0 0 2 0 0 0 2
ALG2 0 1 1 0 0 0 2
ALG3 1 0 1 0 0 0 2
ANK3 0 0 2 0 0 0 2
ANKRD11 0 0 1 1 0 0 2
AP4E1 0 1 1 0 0 0 2
AP4M1 1 1 0 0 0 0 2
ARID1B 0 0 2 0 0 0 2
ASAH1 0 1 1 0 0 0 2
ASH1L 0 0 2 0 0 0 2
ASXL3 0 0 2 0 0 0 2
ATIC 0 0 2 0 0 0 2
ATM 2 0 0 0 0 0 2
ATP6V0A4 1 0 1 0 0 0 2
ATP8A2 0 0 2 0 0 0 2
ATP8B1 0 0 2 0 0 0 2
ATRX 0 0 2 0 0 0 2
BIVM-ERCC5, ERCC5 1 1 0 0 0 0 2
BRAT1 0 1 1 0 0 0 2
BRIP1 0 0 2 0 0 0 2
C19orf12 0 1 1 0 0 0 2
CACNA1B 0 0 2 0 0 0 2
CACNA1D 0 0 2 0 0 0 2
CANT1 0 1 1 0 0 0 2
CASK 1 0 1 0 0 0 2
CASP10 0 0 2 0 0 0 2
CD59 0 0 2 0 0 0 2
CFTR, LOC111674472 1 1 0 0 0 0 2
CHD7 0 0 2 0 0 0 2
CHRNB2 0 0 2 0 0 0 2
CHRND 0 0 2 0 0 0 2
CHST3 1 0 1 0 0 0 2
CIC 0 0 2 0 0 0 2
CLCNKA 0 0 2 0 0 0 2
CLCNKB, LOC106501713 2 0 0 0 0 0 2
CLIC5 0 0 1 1 0 0 2
CLN3 0 0 2 0 0 0 2
COA8 0 1 1 0 0 0 2
COG6 0 0 2 0 0 0 2
COL11A2 0 1 1 0 0 0 2
COL1A2 0 1 1 0 0 0 2
COL2A1 0 1 1 0 0 0 2
COLQ 1 0 1 0 0 0 2
CPS1 1 1 0 0 0 0 2
CRPPA 1 1 0 0 0 0 2
CUBN 2 0 0 0 0 0 2
CYP4F2 0 0 2 0 0 0 2
DBT 2 0 0 0 0 0 2
DCHS1 0 1 1 0 0 0 2
DDR2 0 0 2 0 0 0 2
DDX11 2 0 0 0 0 0 2
DDX3X 0 1 1 0 0 0 2
DHX30 0 0 2 0 0 0 2
DIAPH1 1 0 1 0 0 0 2
DIAPH3 0 0 1 1 0 0 2
DIPK1A, RPL5 0 0 2 0 0 0 2
DM1, DMPK, LOC107075317, LOC129929041 0 0 1 1 0 0 2
DMPK 0 0 2 0 0 0 2
DNM1L 0 0 2 0 0 0 2
DPP6 0 0 2 0 0 0 2
EGR2 0 0 2 0 0 0 2
EIF2B1 0 0 2 0 0 0 2
EP300 0 0 2 0 0 0 2
EPHA2 0 0 2 0 0 0 2
ERBB3 0 0 2 0 0 0 2
EXOSC3 1 1 0 0 0 0 2
EXT2 0 0 2 0 0 0 2
FAH 2 0 0 0 0 0 2
FBN1 0 0 2 0 0 0 2
FBN2 0 0 2 0 0 0 2
FBP1 1 0 1 0 0 0 2
FBXO38 0 0 2 0 0 0 2
FGD4 0 0 2 0 0 0 2
FGFR1 1 0 1 0 0 0 2
FLNB 0 1 1 0 0 0 2
FRMD1 0 0 2 0 0 0 2
GAREM2, HADHA 1 0 1 0 0 0 2
GJB1 0 1 1 0 0 0 2
GJB2 2 0 0 0 0 0 2
GNAO1 0 2 0 0 0 0 2
GNPTAB 1 1 0 0 0 0 2
GPD1 0 0 2 0 0 0 2
GPSM2 1 0 1 0 0 0 2
GRIN1 0 2 0 0 0 0 2
HADHB 0 1 1 0 0 0 2
HBB, LOC106099062, LOC107133510, LOC110006319 2 0 0 0 0 0 2
HCN1 0 0 2 0 0 0 2
HECW2 0 0 2 0 0 0 2
HGD 2 0 0 0 0 0 2
HK1 0 1 1 0 0 0 2
HNRNPU 1 0 1 0 0 0 2
HSALR1, PIEZO1 0 0 2 0 0 0 2
IBA57 0 1 1 0 0 0 2
IDS, LOC106050102 1 0 0 1 0 0 2
IQSEC2 1 0 1 0 0 0 2
ITGA7 1 0 1 0 0 0 2
JAK3 0 0 2 0 0 0 2
KBTBD13 0 0 2 0 0 0 2
KCNJ10 0 0 2 0 0 0 2
KCNJ11 2 0 0 0 0 0 2
KCNQ2 0 2 0 0 0 0 2
KDM5C 0 0 1 1 0 0 2
KIAA0586 1 0 1 0 0 0 2
KIF5C 0 0 2 0 0 0 2
KIF7 1 0 1 0 0 0 2
LAMA3 0 0 2 0 0 0 2
LDB3, LOC110121486 0 0 2 0 0 0 2
LOC102724058, SCN1A 0 1 1 0 0 0 2
LOC130005389 0 0 0 0 0 2 2
LOC130005389, NUCB2 0 0 1 0 0 1 2
LOXHD1 1 0 1 0 0 0 2
LPL 0 1 1 0 0 0 2
LRIG2 0 0 2 0 0 0 2
LRP2 0 0 2 0 0 0 2
LTBP3 0 0 2 0 0 0 2
MAPT 0 0 2 0 0 0 2
MCCC2 0 2 0 0 0 0 2
MCM6 0 0 2 0 0 0 2
MEFV 1 0 0 1 0 0 2
MERTK 1 0 1 0 0 0 2
MIPEP 0 0 2 0 0 0 2
MLH1 0 1 1 0 0 0 2
MOCS2 1 0 1 0 0 0 2
MPLKIP 1 0 1 0 0 0 2
MRPL44 1 0 1 0 0 0 2
MTO1 1 0 1 0 0 0 2
MTRR 1 0 1 0 0 0 2
MYH8, MYHAS 0 0 2 0 0 0 2
MYO19, PIGW 0 0 2 0 0 0 2
MYO3A 0 0 2 0 0 0 2
MYO7A 0 1 1 0 0 0 2
NARS2 1 0 1 0 0 0 2
NDUFS2 0 1 1 0 0 0 2
NDUFS8 0 0 2 0 0 0 2
NDUFV1 0 0 2 0 0 0 2
NEK1 0 0 2 0 0 0 2
NF2 0 0 2 0 0 0 2
NOD2 1 0 1 0 0 0 2
NPC1 2 0 0 0 0 0 2
NPC2 2 0 0 0 0 0 2
NPHP4 0 0 2 0 0 0 2
NRL, PCK2 1 0 0 1 0 0 2
OPHN1 0 0 2 0 0 0 2
OPLAH 0 0 2 0 0 0 2
OTC 0 1 1 0 0 0 2
P3H1 1 0 1 0 0 0 2
PANK2 1 0 1 0 0 0 2
PC 0 0 2 0 0 0 2
PCNT 0 1 1 0 0 0 2
PEX1 1 0 1 0 0 0 2
PGAP1 1 0 1 0 0 0 2
PHKA1 0 0 2 0 0 0 2
PHKB 0 0 2 0 0 0 2
PIGT 0 0 2 0 0 0 2
PKLR 1 1 0 0 0 0 2
PLCB1 0 0 1 1 0 0 2
PMS1 0 0 0 2 0 0 2
PNKP 0 0 1 1 0 0 2
POC1A 1 0 1 0 0 0 2
POLA1 0 0 2 0 0 0 2
POLR1C 0 1 1 0 0 0 2
POLR3A 1 0 1 0 0 0 2
POMGNT1, TSPAN1 0 0 2 0 0 0 2
PPP2R5D 1 0 1 0 0 0 2
PREPL 0 0 1 1 0 0 2
PRF1 0 2 0 0 0 0 2
PRMT7 0 0 2 0 0 0 2
PTEN 1 0 1 0 0 0 2
PTH1R 0 0 2 0 0 0 2
PTPN11 1 1 0 0 0 0 2
PYGL 1 0 1 0 0 0 2
RAD50 0 0 1 0 1 0 2
REPS1 0 0 0 2 0 0 2
RERE 0 0 2 0 0 0 2
RNASEH2A 0 0 2 0 0 0 2
ROM1 0 0 2 0 0 0 2
RPGRIP1 2 0 0 0 0 0 2
RTEL1, RTEL1-TNFRSF6B 0 0 2 0 0 0 2
SCN1A 1 1 0 0 0 0 2
SCN8A 0 1 1 0 0 0 2
SCNN1A 0 0 2 0 0 0 2
SDCCAG8 1 0 1 0 0 0 2
SGCG 1 0 1 0 0 0 2
SLC1A4 1 0 1 0 0 0 2
SLC25A13 0 0 2 0 0 0 2
SLC2A2 2 0 0 0 0 0 2
SLC35A2 0 0 2 0 0 0 2
SLC7A7 1 1 0 0 0 0 2
SMAD4 2 0 0 0 0 0 2
SMARCA2 0 0 2 0 0 0 2
SMC1A 0 0 2 0 0 0 2
SNX14 1 0 1 0 0 0 2
SPTBN2 0 0 1 1 0 0 2
SRD5A2 2 0 0 0 0 0 2
SRPX2 1 0 0 1 0 0 2
STAC3 1 0 1 0 0 0 2
STRC 1 0 0 0 0 1 2
STXBP5L 0 0 2 0 0 0 2
SUCLA2 2 0 0 0 0 0 2
SUFU 0 0 2 0 0 0 2
SUGCT 0 0 2 0 0 0 2
SYNGAP1 0 0 2 0 0 0 2
TCF4 0 1 1 0 0 0 2
TECPR2 1 0 1 0 0 0 2
TGM1 0 0 2 0 0 0 2
TMEM231 0 1 1 0 0 0 2
TNPO3 0 0 2 0 0 0 2
TOP2A 0 0 2 0 0 0 2
TP53 0 2 0 0 0 0 2
TPP1 1 1 0 0 0 0 2
TRAPPC11 0 0 2 0 0 0 2
TRAPPC9 0 0 2 0 0 0 2
TRMU 0 0 2 0 0 0 2
TRPS1 0 1 1 0 0 0 2
TUBGCP6 0 0 1 1 0 0 2
TYR 0 1 1 0 0 0 2
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 0 1 0 0 0 2
UNC13D 1 0 1 0 0 0 2
UPB1 1 0 1 0 0 0 2
UROD 1 1 0 0 0 0 2
VDR 0 1 1 0 0 0 2
VPS13A 1 0 1 0 0 0 2
WASHC5 0 1 1 0 0 0 2
WDR45 1 1 0 0 0 0 2
WDR81 0 0 2 0 0 0 2
ZNF335 0 0 2 0 0 0 2
ZNF592 0 0 2 0 0 0 2
AARS1 0 0 1 0 0 0 1
AASS 0 0 1 0 0 0 1
ABCC3 0 0 1 0 0 0 1
ABCG2 0 0 1 0 0 0 1
ABHD5 0 0 1 0 0 0 1
ACADSB 0 0 1 0 0 0 1
ACADVL 0 0 1 0 0 0 1
ACAT1 1 0 0 0 0 0 1
ACAT2 0 0 1 0 0 0 1
ACE 0 0 1 0 0 0 1
ACER3 1 0 0 0 0 0 1
ACO2 0 0 1 0 0 0 1
ACO2, POLR3H 0 0 1 0 0 0 1
ACSF3, LOC125177393 0 0 1 0 0 0 1
ACVR1 1 0 0 0 0 0 1
ADA 0 0 1 0 0 0 1
ADA2 0 1 0 0 0 0 1
ADAM9 1 0 0 0 0 0 1
ADAMTSL2 1 0 0 0 0 0 1
ADAMTSL4 0 0 1 0 0 0 1
ADGRG1 0 0 1 0 0 0 1
ADK 0 0 1 0 0 0 1
ADPRS 1 0 0 0 0 0 1
ADSL 0 0 1 0 0 0 1
ADSS1, LOC130056631 0 0 1 0 0 0 1
AFF4 0 0 1 0 0 0 1
AGK 0 0 1 0 0 0 1
AGRN 0 0 1 0 0 0 1
AHI1 1 0 0 0 0 0 1
AIMP1 1 0 0 0 0 0 1
AIPL1 0 1 0 0 0 0 1
ALAS2 0 0 1 0 0 0 1
ALDH18A1 0 1 0 0 0 0 1
ALDH2 0 0 1 0 0 0 1
ALDH4A1 0 0 1 0 0 0 1
ALDH6A1, BBOF1 1 0 0 0 0 0 1
ALDOB 0 1 0 0 0 0 1
ALG1 0 1 0 0 0 0 1
ALG8 1 0 0 0 0 0 1
ALG9 1 0 0 0 0 0 1
ALOX15 0 0 1 0 0 0 1
ALOX15B 0 0 1 0 0 0 1
ALOXE3 0 1 0 0 0 0 1
ALS2 0 0 1 0 0 0 1
ALX4 0 0 1 0 0 0 1
AMPD2 0 0 1 0 0 0 1
ANAPC15, LRTOMT, TOMT 0 0 1 0 0 0 1
ANKK1 0 0 1 0 0 0 1
ANXA1 0 0 1 0 0 0 1
APC 0 0 1 0 0 0 1
APOC2, APOC4-APOC2 1 0 0 0 0 0 1
APP 0 1 0 0 0 0 1
APTX 1 0 0 0 0 0 1
AR, LOC109504725 0 0 0 1 0 0 1
ARAP3 0 0 1 0 0 0 1
ARCN1 0 0 1 0 0 0 1
ARFGEF1, CSPP1 0 0 0 1 0 0 1
ARFGEF2 0 0 1 0 0 0 1
ARG1, MED23 1 0 0 0 0 0 1
ARHGAP31 0 0 0 1 0 0 1
ARHGDIA 0 0 1 0 0 0 1
ARHGEF10 0 0 1 0 0 0 1
ARID2 0 0 0 0 1 0 1
ARMC9 0 0 1 0 0 0 1
ARSB 0 1 0 0 0 0 1
ARSL 0 1 0 0 0 0 1
ARX 0 0 1 0 0 0 1
ASCC1 0 0 0 1 0 0 1
ASCC3 0 0 0 1 0 0 1
ASIC4, SPEG 0 0 1 0 0 0 1
ASL 1 0 0 0 0 0 1
ASS1 0 1 0 0 0 0 1
ASTN2, TRIM32 0 0 0 1 0 0 1
ASXL2 0 0 1 0 0 0 1
ATM, C11orf65 0 0 1 0 0 0 1
ATOH7, LOC132089834 1 0 0 0 0 0 1
ATP13A2 0 0 1 0 0 0 1
ATP2B3 0 0 1 0 0 0 1
ATP6AP2 0 0 1 0 0 0 1
ATP6V1A 0 0 1 0 0 0 1
ATP6V1B1 0 0 1 0 0 0 1
ATR 0 0 1 0 0 0 1
ATXN2, LOC130008791 0 0 1 0 0 0 1
ATXN7 0 0 1 0 0 0 1
ATXN7, LOC108660406, LOC129936979 0 0 1 0 0 0 1
ATXN7L3, UBTF 1 0 0 0 0 0 1
AUTS2 0 0 0 0 1 0 1
B3GALNT2 0 0 0 1 0 0 1
B4GALT7 1 0 0 0 0 0 1
BARD1 0 0 0 1 0 0 1
BBIP1 0 0 1 0 0 0 1
BBS10 1 0 0 0 0 0 1
BBS12 0 0 1 0 0 0 1
BBS4 0 0 1 0 0 0 1
BCL11A 0 1 0 0 0 0 1
BCL11B 0 0 1 0 0 0 1
BCR 0 0 1 0 0 0 1
BCS1L 0 0 0 1 0 0 1
BDNF 0 0 1 0 0 0 1
BLM 0 0 1 0 0 0 1
BLTP1 0 0 1 0 0 0 1
BMP4 0 0 1 0 0 0 1
BMPER 0 0 1 0 0 0 1
BMPR1A 0 0 0 0 1 0 1
BMPR1B 0 0 1 0 0 0 1
BPTF 0 0 1 0 0 0 1
BRAF 0 1 0 0 0 0 1
BTD 1 0 0 0 0 0 1
C10orf105, CDH23 1 0 0 0 0 0 1
C17orf107, CHRNE 0 0 1 0 0 0 1
C17orf107, CHRNE, MINK1 1 0 0 0 0 0 1
C1QTNF5, MFRP 1 0 0 0 0 0 1
C2 0 1 0 0 0 0 1
C2CD3 0 0 1 0 0 0 1
C6orf47 0 1 0 0 0 0 1
C8B 0 0 1 0 0 0 1
CA2, CA3 1 0 0 0 0 0 1
CACNA1A, LOC126862864 0 1 0 0 0 0 1
CACNA1C 0 0 1 0 0 0 1
CACNA1F 0 0 1 0 0 0 1
CAMTA1 0 0 1 0 0 0 1
CAPN3, LOC126862115 0 0 1 0 0 0 1
CARS2 0 0 1 0 0 0 1
CASQ1 0 0 0 1 0 0 1
CAV3, OXTR 0 0 1 0 0 0 1
CCDC22 0 0 1 0 0 0 1
CCDC78 0 0 1 0 0 0 1
CCN6 1 0 0 0 0 0 1
CCNF, TBC1D24 0 0 1 0 0 0 1
CCT5 0 0 1 0 0 0 1
CD19 0 0 1 0 0 0 1
CD36 0 1 0 0 0 0 1
CD79A 0 0 1 0 0 0 1
CD99 0 0 1 0 0 0 1
CDH1 0 0 1 0 0 0 1
CDH11 0 1 0 0 0 0 1
CDH3 0 0 1 0 0 0 1
CDK11A 0 0 1 0 0 0 1
CDK5RAP2 0 1 0 0 0 0 1
CDSN, PSORS1C1 0 0 1 0 0 0 1
CDT1 0 0 1 0 0 0 1
CEL 0 0 1 0 0 0 1
CEP164 0 1 0 0 0 0 1
CEP290, RLIG1 0 0 1 0 0 0 1
CEP41 0 0 0 1 0 0 1
CEP57 0 1 0 0 0 0 1
CERT1 0 0 1 0 0 0 1
CERT1, POLK 1 0 0 0 0 0 1
CFHR3 0 0 0 1 0 0 1
CFHR5 1 0 0 0 0 0 1
CHAT 0 1 0 0 0 0 1
CHD2 0 0 1 0 0 0 1
CHMP1A 0 1 0 0 0 0 1
CHMP2B 0 0 1 0 0 0 1
CHRD 0 0 1 0 0 0 1
CHRNA1 0 0 1 0 0 0 1
CHRNA4 0 0 1 0 0 0 1
CHRNB1 0 0 1 0 0 0 1
CHRNE, LOC130060040 0 0 1 0 0 0 1
CHSY1, LOC130058068 0 0 1 0 0 0 1
CLCF1, LOC100130987 0 0 1 0 0 0 1
CLCN2 0 0 1 0 0 0 1
CLCNKA, LOC106501712 0 0 1 0 0 0 1
CLDN14 0 1 0 0 0 0 1
CLMP 1 0 0 0 0 0 1
CLN8 0 0 1 0 0 0 1
CLPB 0 0 1 0 0 0 1
CMYA5 0 0 1 0 0 0 1
CNGB3 1 0 0 0 0 0 1
CNKSR2 1 0 0 0 0 0 1
CNOT1 0 0 0 0 1 0 1
CNPY3, CNPY3-GNMT 0 0 1 0 0 0 1
CNTN2 0 0 1 0 0 0 1
CNTNAP2 1 0 0 0 0 0 1
COCH 0 1 0 0 0 0 1
COG4 1 0 0 0 0 0 1
COG5 1 0 0 0 0 0 1
COG5, DUS4L, DUS4L-BCAP29 0 1 0 0 0 0 1
COL10A1, NT5DC1 0 0 1 0 0 0 1
COL11A1 0 0 1 0 0 0 1
COL13A1 0 0 1 0 0 0 1
COL17A1 1 0 0 0 0 0 1
COL18A1, SLC19A1 0 0 1 0 0 0 1
COL1A1 1 0 0 0 0 0 1
COL4A1 0 1 0 0 0 0 1
COL4A2 0 0 1 0 0 0 1
COL4A5 0 0 1 0 0 0 1
COLEC11 0 0 1 0 0 0 1
COQ6, ENTPD5 0 0 1 0 0 0 1
COQ7 0 0 1 0 0 0 1
COQ7, COQ7-DT, LOC130058587 0 0 1 0 0 0 1
COQ8A 1 0 0 0 0 0 1
COX15 0 0 1 0 0 0 1
COX7B 0 0 1 0 0 0 1
CP, HPS3 0 1 0 0 0 0 1
CPAP, RNF17 0 1 0 0 0 0 1
CPLANE1 0 1 0 0 0 0 1
CPT1C 0 0 0 1 0 0 1
CPTP 0 0 1 0 0 0 1
CR2 1 0 0 0 0 0 1
CRADD 0 1 0 0 0 0 1
CRB1 0 1 0 0 0 0 1
CRYAB, HSPB2, HSPB2-C11orf52 0 0 1 0 0 0 1
CSRNP1 0 0 0 1 0 0 1
CTC1 1 0 0 0 0 0 1
CTF1, LOC130058878 0 0 1 0 0 0 1
CTH 0 0 1 0 0 0 1
CTNNB1 1 0 0 0 0 0 1
CTSC 0 1 0 0 0 0 1
CTSK 0 0 1 0 0 0 1
CTTN 0 0 1 0 0 0 1
CUL7 0 0 1 0 0 0 1
CXXC1 0 0 1 0 0 0 1
CYP11B1, LOC106799833 1 0 0 0 0 0 1
CYP1B1 0 1 0 0 0 0 1
CYP21A2, LOC106780800 1 0 0 0 0 0 1
CYP27A1 1 0 0 0 0 0 1
CYP27B1 0 1 0 0 0 0 1
CYP7B1 0 0 1 0 0 0 1
DARS1 0 1 0 0 0 0 1
DARS2 1 0 0 0 0 0 1
DBNL, PGAM2 0 1 0 0 0 0 1
DCDC2 0 0 1 0 0 0 1
DCLRE1C 0 0 1 0 0 0 1
DCTN1 0 0 1 0 0 0 1
DCX 0 1 0 0 0 0 1
DDOST 0 1 0 0 0 0 1
DECR1 0 0 1 0 0 0 1
DEPDC5 1 0 0 0 0 0 1
DES 0 1 0 0 0 0 1
DGCR6 0 0 1 0 0 0 1
DGUOK 0 0 1 0 0 0 1
DHFR, MSH3 0 0 1 0 0 0 1
DHTKD1, LOC130003343 0 0 1 0 0 0 1
DHX37 0 0 1 0 0 0 1
DIP2B 0 0 1 0 0 0 1
DIS3 0 0 1 0 0 0 1
DM1, DMPK, LOC107075317, LOC129929042 0 0 1 0 0 0 1
DMGDH 0 0 1 0 0 0 1
DMP1, DSPP 0 0 0 0 1 0 1
DMXL2 0 1 0 0 0 0 1
DNA2 0 1 0 0 0 0 1
DNAAF19 1 0 0 0 0 0 1
DNAAF4, DNAAF4-CCPG1 1 0 0 0 0 0 1
DNAH5 1 0 0 0 0 0 1
DNAJC19 0 0 1 0 0 0 1
DNAJC21 1 0 0 0 0 0 1
DNASE1L1, LOC130068869, TAFAZZIN 0 0 1 0 0 0 1
DNMT1 0 0 1 0 0 0 1
DOCK3 0 0 1 0 0 0 1
DOCK6 1 0 0 0 0 0 1
DOK7 0 0 1 0 0 0 1
DPAGT1, LOC126861360 0 0 1 0 0 0 1
DSTYK 0 0 0 1 0 0 1
DUOX2 1 0 0 0 0 0 1
EARS2 0 0 1 0 0 0 1
ECM1 1 0 0 0 0 0 1
EDA 1 0 0 0 0 0 1
EFEMP2 1 0 0 0 0 0 1
EFNB1 0 0 1 0 0 0 1
EHHADH 0 0 1 0 0 0 1
EIF2B2 1 0 0 0 0 0 1
EIF2B3 0 0 1 0 0 0 1
ELP1 0 0 1 0 0 0 1
EMC1 0 1 0 0 0 0 1
ENPP2 0 0 1 0 0 0 1
ENTPD1 0 0 1 0 0 0 1
EPCAM 0 0 0 0 1 0 1
EPG5 0 0 1 0 0 0 1
ERCC1 0 0 1 0 0 0 1
ERCC3 1 0 0 0 0 0 1
ERCC6, LOC126860933 0 0 1 0 0 0 1
ERMAP 0 0 0 1 0 0 1
ERMARD 0 0 1 0 0 0 1
ERN2 0 0 1 0 0 0 1
ESCO2 0 1 0 0 0 0 1
ETFB 0 0 1 0 0 0 1
ETFDH 0 0 1 0 0 0 1
ETHE1 0 0 1 0 0 0 1
EVC 1 0 0 0 0 0 1
EVC2 0 0 1 0 0 0 1
EXOSC8 0 0 1 0 0 0 1
EXT2, LOC126861201 1 0 0 0 0 0 1
F2 1 0 0 0 0 0 1
F2RL2, IQGAP2 0 0 1 0 0 0 1
F7 0 1 0 0 0 0 1
F8 0 1 0 0 0 0 1
FA2H 1 0 0 0 0 0 1
FA2H, LOC130059394 0 0 1 0 0 0 1
FAAH2 1 0 0 0 0 0 1
FAM20A, PRKAR1A 0 1 0 0 0 0 1
FANCA 0 0 1 0 0 0 1
FANCA, ZNF276 0 1 0 0 0 0 1
FANCC 1 0 0 0 0 0 1
FANCG 0 0 1 0 0 0 1
FARSB 1 0 0 0 0 0 1
FAS 0 0 1 0 0 0 1
FASLG 0 0 0 1 0 0 1
FBLN5 1 0 0 0 0 0 1
FBXL4 1 0 0 0 0 0 1
FGG 0 0 1 0 0 0 1
FHL1 0 0 1 0 0 0 1
FKBP10 1 0 0 0 0 0 1
FKBP6 0 0 1 0 0 0 1
FKRP 0 0 1 0 0 0 1
FKTN 1 0 0 0 0 0 1
FLVCR1 0 0 1 0 0 0 1
FMN2 0 0 1 0 0 0 1
FMNL2 0 0 1 0 0 0 1
FOXG1 0 1 0 0 0 0 1
FOXL2 1 0 0 0 0 0 1
FOXP1 0 0 1 0 0 0 1
FPGT-TNNI3K, TNNI3K 0 0 0 1 0 0 1
FREM1 0 0 1 0 0 0 1
FREM2 0 0 1 0 0 0 1
FRMPD4 0 0 1 0 0 0 1
FRZB 0 0 1 0 0 0 1
FSCN2 0 0 1 0 0 0 1
FTL 0 0 1 0 0 0 1
FTO 0 0 1 0 0 0 1
FUCA1 0 0 1 0 0 0 1
G6PC2 0 0 1 0 0 0 1
G6PD 1 0 0 0 0 0 1
GABRB1 0 0 1 0 0 0 1
GABRB2 0 0 0 0 1 0 1
GABRB3 0 0 1 0 0 0 1
GAD1 0 0 0 1 0 0 1
GALT 0 1 0 0 0 0 1
GAMT 1 0 0 0 0 0 1
GAN 0 0 1 0 0 0 1
GATA4 1 0 0 0 0 0 1
GATAD1, PEX1 0 0 1 0 0 0 1
GATM 0 0 1 0 0 0 1
GBA1 0 0 1 0 0 0 1
GBE1 1 0 0 0 0 0 1
GCH1 0 1 0 0 0 0 1
GDAP1 1 0 0 0 0 0 1
GEMIN4 0 0 1 0 0 0 1
GFAP 0 0 1 0 0 0 1
GFM1 0 1 0 0 0 0 1
GH-LCR, SCN4A 0 0 1 0 0 0 1
GJB4 0 1 0 0 0 0 1
GJC2 0 0 1 0 0 0 1
GLA, RPL36A-HNRNPH2 0 0 1 0 0 0 1
GLI3 0 0 0 0 1 0 1
GLRA1 1 0 0 0 0 0 1
GLUD1 0 0 1 0 0 0 1
GLUL 0 0 1 0 0 0 1
GMPPB 0 1 0 0 0 0 1
GNAI3 0 0 1 0 0 0 1
GNAT1 0 0 1 0 0 0 1
GNAT2 1 0 0 0 0 0 1
GNB1 0 0 1 0 0 0 1
GNPAT 0 0 1 0 0 0 1
GNPTG 1 0 0 0 0 0 1
GNRHR 1 0 0 0 0 0 1
GOLGA4 0 0 0 0 0 1 1
GORAB 0 0 1 0 0 0 1
GPC3 1 0 0 0 0 0 1
GRIA3 0 0 1 0 0 0 1
GRIN2A 0 0 1 0 0 0 1
GRIN2D 0 0 1 0 0 0 1
GRK1 0 0 1 0 0 0 1
GRN 0 0 1 0 0 0 1
GTF2H5 0 1 0 0 0 0 1
GUSB 0 0 1 0 0 0 1
GYG1 0 0 1 0 0 0 1
GYS1 0 1 0 0 0 0 1
H2BW2 0 0 0 1 0 0 1
HBA1, HBA2, LOC106804612 1 0 0 0 0 0 1
HBA1, LOC106804613 1 0 0 0 0 0 1
HBS1L 0 0 1 0 0 0 1
HCCS 0 0 1 0 0 0 1
HEMK1 0 0 1 0 0 0 1
HEPACAM 0 0 1 0 0 0 1
HEXB 0 0 1 0 0 0 1
HIBCH 0 1 0 0 0 0 1
HMBS 0 1 0 0 0 0 1
HMGCL 1 0 0 0 0 0 1
HMGCS2 1 0 0 0 0 0 1
HNF1A 0 1 0 0 0 0 1
HNRNPDL 0 0 1 0 0 0 1
HPD, TIALD 1 0 0 0 0 0 1
HPRT1 1 0 0 0 0 0 1
HRAS, LRRC56 0 0 1 0 0 0 1
HSD17B10 0 0 1 0 0 0 1
HSD17B4 0 0 1 0 0 0 1
HSD17B4, LOC129994460 1 0 0 0 0 0 1
HSF4 0 0 1 0 0 0 1
HSPB1 0 0 1 0 0 0 1
HSPB3 0 0 1 0 0 0 1
HSPB8 0 1 0 0 0 0 1
HSPD1 0 0 1 0 0 0 1
HSPG2, LOC126805655 0 0 1 0 0 0 1
HTT 0 0 1 0 0 0 1
HUWE1 0 0 1 0 0 0 1
IARS1 0 0 1 0 0 0 1
IARS2 0 0 1 0 0 0 1
IDS 1 0 0 0 0 0 1
IFT172 1 0 0 0 0 0 1
IFT57 0 0 1 0 0 0 1
IGF1R 0 0 1 0 0 0 1
IGF2R, LOC129997612 0 1 0 0 0 0 1
IGHMBP2 0 0 1 0 0 0 1
IGLL1 0 0 1 0 0 0 1
IGSF3 1 0 0 0 0 0 1
IKBKB 0 0 0 1 0 0 1
IL11RA 0 0 1 0 0 0 1
INPP5E 0 0 1 0 0 0 1
INVS 0 0 1 0 0 0 1
IRF2 0 0 1 0 0 0 1
IRF4 0 0 1 0 0 0 1
ISCA2 0 0 1 0 0 0 1
ISG15 0 0 1 0 0 0 1
ITGA2B 0 0 1 0 0 0 1
ITGA7, LOC126861535 0 1 0 0 0 0 1
ITGA8 0 0 0 1 0 0 1
ITGB5 0 0 1 0 0 0 1
ITPA 0 1 0 0 0 0 1
ITSN2 0 0 1 0 0 0 1
JPH3 0 0 1 0 0 0 1
KAT6B 0 0 1 0 0 0 1
KCNC3, LOC111811967 1 0 0 0 0 0 1
KCND3 0 1 0 0 0 0 1
KCNH1 0 0 1 0 0 0 1
KCNJ2 1 0 0 0 0 0 1
KCNK9 0 0 1 0 0 0 1
KCNQ3 0 0 0 1 0 0 1
KCNQ5 0 0 1 0 0 0 1
KCTD3 0 0 1 0 0 0 1
KCTD7 0 0 1 0 0 0 1
KIDINS220 0 0 1 0 0 0 1
KIF5A 0 0 1 0 0 0 1
KIFBP 1 0 0 0 0 0 1
KLHL3 0 0 1 0 0 0 1
KLHL40 0 0 1 0 0 0 1
KMT2B 0 0 1 0 0 0 1
KMT2C 0 0 1 0 0 0 1
KPTN 0 0 1 0 0 0 1
KRT14 0 0 1 0 0 0 1
KRT16 0 0 1 0 0 0 1
KRT85 0 0 1 0 0 0 1
KRT9 1 0 0 0 0 0 1
L1CAM 1 0 0 0 0 0 1
LAMA2, LOC123864065 0 0 1 0 0 0 1
LAMA4 0 0 1 0 0 0 1
LAMB2 0 0 1 0 0 0 1
LAMB3 1 0 0 0 0 0 1
LAMC3 0 0 1 0 0 0 1
LAMP3 0 0 1 0 0 0 1
LARP7, MIR302CHG 0 0 1 0 0 0 1
LBR 0 1 0 0 0 0 1
LHFPL5 0 0 1 0 0 0 1
LIG1 0 0 1 0 0 0 1
LIG4 1 0 0 0 0 0 1
LIMS2 0 0 1 0 0 0 1
LINC00630, RAB40AL 0 0 1 0 0 0 1
LINS1 0 0 1 0 0 0 1
LMF1 1 0 0 0 0 0 1
LMNA, LOC129931597 0 1 0 0 0 0 1
LMNB1 0 0 1 0 0 0 1
LOC100287944, POLR3B 0 0 1 0 0 0 1
LOC105369149, SBF2 0 0 1 0 0 0 1
LOC105376032, PAX5 0 0 1 0 0 0 1
LOC108663996, TBP 0 0 1 0 0 0 1
LOC108903148, OPTN 0 0 1 0 0 0 1
LOC112449713, PHKB 0 0 1 0 0 0 1
LOC113174982, TDP2 1 0 0 0 0 0 1
LOC124418421, STIM1 0 0 1 0 0 0 1
LOC126806432, TTN 0 0 1 0 0 0 1
LOC126807526, MATR3 0 0 1 0 0 0 1
LOC126859837, SYNE1 0 0 1 0 0 0 1
LOC126861615, PAH 1 0 0 0 0 0 1
LOC126861898, MYH7 0 1 0 0 0 0 1
LOC126862264, MEFV 0 1 0 0 0 0 1
LOC126862902, RYR1 0 1 0 0 0 0 1
LOC126863160, NAGA 0 0 1 0 0 0 1
LOC129935366, MARS2 0 0 1 0 0 0 1
LOC130001342, PLEC 0 0 1 0 0 0 1
LOC130002813, LOC130002814, PRDM12 1 0 0 0 0 0 1
LOC130005043, NLRP6 0 0 1 0 0 0 1
LOC130068040, SMS 0 0 1 0 0 0 1
LOC130068854, MECP2 0 0 1 0 0 0 1
LORICRIN 0 0 1 0 0 0 1
LPCAT1 0 0 1 0 0 0 1
LPIN1 0 0 1 0 0 0 1
LPIN2 1 0 0 0 0 0 1
LRP4 0 0 1 0 0 0 1
LRRC14B 0 0 1 0 0 0 1
LRRK1 1 0 0 0 0 0 1
LYRM7 0 1 0 0 0 0 1
LZTFL1 0 0 1 0 0 0 1
MAG 0 0 1 0 0 0 1
MAGEL2 0 0 1 0 0 0 1
MAN2B1 0 0 1 0 0 0 1
MANBA 0 0 1 0 0 0 1
MARS2 0 0 1 0 0 0 1
MARVELD2 0 1 0 0 0 0 1
MASTL 0 0 1 0 0 0 1
MATN3 0 0 1 0 0 0 1
MBOAT7 0 0 1 0 0 0 1
MBTPS2 0 0 1 0 0 0 1
MC1R 0 0 1 0 0 0 1
MCM2 0 0 1 0 0 0 1
MCPH1 0 0 1 0 0 0 1
MED17 0 0 1 0 0 0 1
MED23 1 0 0 0 0 0 1
MEGF10 0 0 1 0 0 0 1
MESP2 0 1 0 0 0 0 1
MFF 0 0 1 0 0 0 1
MFSD8 0 0 1 0 0 0 1
MGP 0 0 0 1 0 0 1
MHRT, MYH7 1 0 0 0 0 0 1
MID1 0 0 1 0 0 0 1
MID2 0 0 1 0 0 0 1
MILR1, POLG2 0 0 0 1 0 0 1
MITF 0 0 1 0 0 0 1
MKKS 1 0 0 0 0 0 1
MKS1 1 0 0 0 0 0 1
MLPH 0 0 1 0 0 0 1
MLYCD 0 0 1 0 0 0 1
MMAB 1 0 0 0 0 0 1
MMADHC 0 0 1 0 0 0 1
MMP13 0 0 1 0 0 0 1
MMP2 1 0 0 0 0 0 1
MOK 0 0 1 0 0 0 1
MPZ 0 0 1 0 0 0 1
MROH7-TTC4, TTC4 0 0 1 0 0 0 1
MRPS22 0 0 1 0 0 0 1
MSH2 0 0 1 0 0 0 1
MST1 0 0 1 0 0 0 1
MT-CO3 1 0 0 0 0 0 1
MT-ND4 0 0 0 0 1 0 1
MT-ND5 0 0 0 0 1 0 1
MTAP 0 0 1 0 0 0 1
MTHFD1 0 0 1 0 0 0 1
MTM1 0 0 1 0 0 0 1
MTMR14 0 0 0 1 0 0 1
MTOR 0 0 1 0 0 0 1
MVD 0 0 1 0 0 0 1
MVK 1 0 0 0 0 0 1
MYH2, MYHAS 0 0 1 0 0 0 1
MYH9 0 0 1 0 0 0 1
MYPN 0 0 1 0 0 0 1
MYT1L 0 0 1 0 0 0 1
NAGA 0 0 1 0 0 0 1
NAXE 0 0 1 0 0 0 1
NBAS 0 0 1 0 0 0 1
NCOR2 0 0 1 0 0 0 1
NDE1 0 0 1 0 0 0 1
NDN 0 0 1 0 0 0 1
NDP 0 1 0 0 0 0 1
NDUFAF1 0 0 1 0 0 0 1
NDUFAF6 0 1 0 0 0 0 1
NDUFB11 0 0 1 0 0 0 1
NDUFS3 0 0 1 0 0 0 1
NDUFS4 0 1 0 0 0 0 1
NEK8 0 0 1 0 0 0 1
NHLRC1 1 0 0 0 0 0 1
NKX6-2 1 0 0 0 0 0 1
NLRP1 0 0 1 0 0 0 1
NLRP3 0 0 0 1 0 0 1
NOTCH2 0 0 1 0 0 0 1
NOTCH3 1 0 0 0 0 0 1
NPHS1 0 1 0 0 0 0 1
NPHS2 0 0 1 0 0 0 1
NPR2, SPAG8 0 0 1 0 0 0 1
NPRL2 0 0 1 0 0 0 1
NR0B1 1 0 0 0 0 0 1
NR1H2 0 0 1 0 0 0 1
NRXN3 0 0 1 0 0 0 1
NTNG1 0 0 1 0 0 0 1
OBSCN 0 0 1 0 0 0 1
OCLN 1 0 0 0 0 0 1
OCRL 0 0 1 0 0 0 1
OGT 0 0 1 0 0 0 1
OPA3 0 0 1 0 0 0 1
ORC1 0 0 1 0 0 0 1
ORC6 1 0 0 0 0 0 1
P2RX5, P2RX5-TAX1BP3 0 0 1 0 0 0 1
PAK3 0 0 1 0 0 0 1
PARN 1 0 0 0 0 0 1
PCDH12, RNF14 0 0 1 0 0 0 1
PDE11A 1 0 0 0 0 0 1
PDE4D 0 0 1 0 0 0 1
PDHA1 1 0 0 0 0 0 1
PDHB 0 0 1 0 0 0 1
PDSS2 0 0 1 0 0 0 1
PDX1 0 0 0 0 1 0 1
PEPD 0 0 1 0 0 0 1
PEX13 0 0 1 0 0 0 1
PEX26 1 0 0 0 0 0 1
PGAP3 1 0 0 0 0 0 1
PHEX 1 0 0 0 0 0 1
PHF8 0 0 1 0 0 0 1
PHIP 1 0 0 0 0 0 1
PHTF1 0 0 1 0 0 0 1
PHYH 0 0 0 0 1 0 1
PIBF1 0 0 1 0 0 0 1
PIEZO1 0 0 1 0 0 0 1
PIGL 0 0 1 0 0 0 1
PIGQ 0 0 1 0 0 0 1
PIK3CA 0 1 0 0 0 0 1
PIK3R1 0 0 1 0 0 0 1
PKHD1 0 0 1 0 0 0 1
PLA2G7 0 0 1 0 0 0 1
PLD2 0 0 1 0 0 0 1
PLEKHG2 0 0 1 0 0 0 1
PLIN1 0 0 1 0 0 0 1
PLOD3 0 0 1 0 0 0 1
PMS2 0 0 0 0 1 0 1
PNCK 0 0 0 1 0 0 1
PNKD 0 0 1 0 0 0 1
PNP 0 0 1 0 0 0 1
PNPLA1 0 0 1 0 0 0 1
PNPLA2 0 0 0 1 0 0 1
PNPLA8 0 0 1 0 0 0 1
POLE 0 0 1 0 0 0 1
POLK 0 0 1 0 0 0 1
POLR3B 1 0 0 0 0 0 1
POMGNT2 0 0 1 0 0 0 1
POMT2 0 0 1 0 0 0 1
PPOX 1 0 0 0 0 0 1
PPP1R15B 0 0 1 0 0 0 1
PPP1R3B 0 0 1 0 0 0 1
PPP2R2B 0 0 1 0 0 0 1
PQBP1 1 0 0 0 0 0 1
PRDM16 0 0 0 1 0 0 1
PREPL, SLC3A1 0 0 1 0 0 0 1
PRKAG2 0 0 1 0 0 0 1
PRKDC 0 0 1 0 0 0 1
PRKN 0 1 0 0 0 0 1
PROK2 1 0 0 0 0 0 1
PROKR2 0 0 1 0 0 0 1
PROM1 1 0 0 0 0 0 1
PRPH2 0 0 1 0 0 0 1
PRRX1 0 0 1 0 0 0 1
PRSS12 0 0 1 0 0 0 1
PRUNE1 1 0 0 0 0 0 1
PSAP 1 0 0 0 0 0 1
PTCH1 1 0 0 0 0 0 1
PTPRF 0 0 1 0 0 0 1
PTPRQ 0 0 1 0 0 0 1
PUS1 0 1 0 0 0 0 1
PYCR1 0 0 1 0 0 0 1
PYROXD1 0 0 1 0 0 0 1
QARS1 0 1 0 0 0 0 1
RAB18 0 1 0 0 0 0 1
RAB3GAP1 1 0 0 0 0 0 1
RAB3GAP2 0 1 0 0 0 0 1
RAC2 0 0 1 0 0 0 1
RAD50, TH2-LCR, TH2LCRR 0 0 1 0 0 0 1
RAG2 0 0 1 0 0 0 1
RAI1 0 0 1 0 0 0 1
RANBP2 0 1 0 0 0 0 1
RAPSN 0 1 0 0 0 0 1
RARB 0 1 0 0 0 0 1
RARS1 1 0 0 0 0 0 1
RARS2 0 0 1 0 0 0 1
RBMX 0 0 1 0 0 0 1
RECQL4 0 0 1 0 0 0 1
RERG 0 0 1 0 0 0 1
RETREG1 1 0 0 0 0 0 1
RFT1 0 0 1 0 0 0 1
RGS9BP 0 0 1 0 0 0 1
RHBDD3 0 0 1 0 0 0 1
RIMS1 0 0 1 0 0 0 1
RLN3 0 0 1 0 0 0 1
RNF170 0 1 1 0 0 0 1
RNF216 1 0 0 0 0 0 1
ROGDI 0 0 1 0 0 0 1
RORA 0 0 1 0 0 0 1
RP1L1 0 0 1 0 0 0 1
RPE65 0 1 0 0 0 0 1
RPGRIP1L 1 0 0 0 0 0 1
RPL11 1 0 0 0 0 0 1
RPS6KA3 0 1 0 0 0 0 1
RPS7 0 0 1 0 0 0 1
RSPH1 1 0 0 0 0 0 1
RTN2 0 0 1 0 0 0 1
RUBCN 0 0 1 0 0 0 1
RUNX2 0 0 1 0 0 0 1
RUNX2, SUPT3H 1 0 0 0 0 0 1
SALL1 0 0 1 0 0 0 1
SARS1 0 0 1 0 0 0 1
SBF2 0 0 1 0 0 0 1
SC5D 1 0 0 0 0 0 1
SCN11A 0 0 1 0 0 0 1
SCN4A 0 0 1 0 0 0 1
SCN5A 1 0 0 1 0 0 1
SCN9A 0 1 0 0 0 0 1
SCYL1 0 1 0 0 0 0 1
SDHB 0 0 1 0 0 0 1
SDHD 0 0 1 0 0 0 1
SEMA3E 0 0 0 1 0 0 1
SEMA4D 0 0 1 0 0 0 1
SENP6 0 0 1 0 0 0 1
SEPSECS 0 0 1 0 0 0 1
SETD2 0 0 1 0 0 0 1
SETD6 0 0 1 0 0 0 1
SFTPB 1 0 0 0 0 0 1
SFXN4 1 0 0 0 0 0 1
SGCA 1 0 0 0 0 0 1
SH3TC2 0 0 1 0 0 0 1
SHH 0 0 1 0 0 0 1
SI 0 0 1 0 0 0 1
SIGMAR1 0 0 1 0 0 0 1
SLC11A1 0 0 1 0 0 0 1
SLC11A2 0 0 1 0 0 0 1
SLC12A1 0 0 1 0 0 0 1
SLC12A3 0 0 1 0 0 0 1
SLC12A5 0 0 1 0 0 0 1
SLC12A6 0 0 1 0 0 0 1
SLC17A9 0 0 1 0 0 0 1
SLC19A3 1 0 0 0 0 0 1
SLC25A20 0 0 1 0 0 0 1
SLC25A46 0 0 1 0 0 0 1
SLC26A2 1 0 0 0 0 0 1
SLC29A3 1 0 0 0 0 0 1
SLC2A9 0 0 1 0 0 0 1
SLC34A2 0 0 1 0 0 0 1
SLC34A3 0 0 1 0 0 0 1
SLC35C1 0 0 1 0 0 0 1
SLC37A4 0 1 0 0 0 0 1
SLC38A6 0 0 1 0 0 0 1
SLC3A1 1 0 0 0 0 0 1
SLC4A11 0 1 0 0 0 0 1
SLC52A2 0 0 1 0 0 0 1
SLC52A3 0 0 1 0 0 0 1
SLC5A1 0 0 1 0 0 0 1
SLC6A13 0 0 1 0 0 0 1
SLC6A3 0 0 1 0 0 0 1
SLC7A14 0 0 1 0 0 0 1
SLC7A9 0 0 1 0 0 0 1
SLC9A1 0 0 1 0 0 0 1
SMARCA4 0 0 1 0 0 0 1
SMC4, TRIM59-IFT80 0 0 1 0 0 0 1
SNORD118, TMEM107 0 0 1 0 0 0 1
SON 0 0 1 0 0 0 1
SOS1 1 0 0 0 0 0 1
SOX17 0 0 0 1 0 0 1
SOX3 0 0 1 0 0 0 1
SOX5 0 0 1 0 0 0 1
SPART 1 0 0 0 0 0 1
SPAST 0 0 1 0 0 0 1
SPG7 1 0 0 0 0 0 1
SPINK5 0 0 1 0 0 0 1
SPTAN1 0 0 1 0 0 0 1
SPTLC2 0 0 1 0 0 0 1
SQSTM1 0 0 1 0 0 0 1
ST3GAL3 0 0 1 0 0 0 1
ST3GAL5 0 0 1 0 0 0 1
STIM1 0 0 0 1 0 0 1
STRA6 1 0 0 0 0 0 1
STS 0 0 1 0 0 0 1
STT3B 0 0 1 0 0 0 1
STX3 0 0 1 0 0 0 1
STXBP1 0 0 1 0 0 0 1
STXBP2 0 0 1 0 0 0 1
STYXL1 0 0 1 0 0 0 1
SULT1A1 0 0 1 0 0 0 1
SUOX 0 1 0 0 0 0 1
SZT2 0 0 1 0 0 0 1
TBC1D24 1 0 0 0 0 0 1
TBCE 0 1 0 0 0 0 1
TBK1 0 0 1 0 0 0 1
TBXAS1 0 0 1 0 0 0 1
TCAP 0 1 0 0 0 0 1
TCF20 0 0 1 0 0 0 1
TCOF1 0 0 1 0 0 0 1
TDRD12 0 0 1 0 0 0 1
TELO2 0 0 1 0 0 0 1
TFRC 1 0 0 0 0 0 1
TGFB1 0 0 1 0 0 0 1
TGFBR2 0 0 0 0 1 0 1
TGM6 0 0 1 0 0 0 1
THBS1 0 0 1 0 0 0 1
TIMM50 0 0 1 0 0 0 1
TKT 0 1 0 0 0 0 1
TMC1 1 0 0 0 0 0 1
TMEM126B 1 0 0 0 0 0 1
TMEM237 0 0 1 0 0 0 1
TMEM240 0 0 0 0 1 0 1
TMEM94 1 0 0 0 0 0 1
TPI1 0 0 1 0 0 0 1
TPM2 0 0 1 0 0 0 1
TPM3 1 0 0 0 0 0 1
TRAIP 0 0 1 0 0 0 1
TRDN 1 0 0 0 0 0 1
TRIM37 0 0 1 0 0 0 1
TRIO 0 0 1 0 0 0 1
TRIP4 1 0 0 0 0 0 1
TRPM4 0 0 1 0 0 0 1
TRPM6 0 0 1 0 0 0 1
TRPV1 0 0 1 0 0 0 1
TSC1 0 0 0 0 1 0 1
TSEN2 1 0 0 0 0 0 1
TSPYL2 0 0 1 0 0 0 1
TTBK2 0 0 1 0 0 0 1
TTC8 1 0 0 0 0 0 1
TTPA 0 0 1 0 0 0 1
TTR 0 0 1 0 0 0 1
TUBB2B 0 0 1 0 0 0 1
TWNK 0 1 0 0 0 0 1
UBA1 0 0 1 0 0 0 1
UBQLN2 0 0 0 1 0 0 1
UBR1 0 0 1 0 0 0 1
UMPS 0 1 0 0 0 0 1
UROC1 0 0 1 0 0 0 1
USP50, USP8 1 0 0 0 0 0 1
USP9X 0 0 1 0 0 0 1
VLDLR 0 0 1 0 0 0 1
VPS13D 0 0 1 0 0 0 1
VPS33B 1 0 0 0 0 0 1
VRK1 0 0 1 0 0 0 1
VSX2 1 0 0 0 0 0 1
WAC 0 1 0 0 0 0 1
WDR35 0 0 1 0 0 0 1
WHRN 0 0 1 0 0 0 1
WNT4 0 0 1 0 0 0 1
WRAP53 1 0 0 0 0 0 1
XIRP1 0 0 0 0 0 1 1
XPR1 0 0 1 0 0 0 1
XRCC1 0 0 1 0 0 0 1
XYLT2 0 0 1 0 0 0 1
ZBTB20 1 0 0 0 0 0 1
ZBTB42 0 0 1 0 0 0 1
ZC3H14 0 0 0 1 0 0 1
ZC4H2 0 1 0 0 0 0 1
ZFYVE26 0 0 1 0 0 0 1
ZKSCAN7, ZNF660, ZNF660-ZNF197 0 0 1 0 0 0 1
ZNF408 0 0 1 0 0 0 1
ZNF711 0 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 1278
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 62 30 86 8 9 7 202
not specified 3 2 139 13 5 0 162
Familial cancer of breast 3 1 5 1 5 11 26
Leukocyte adhesion deficiency 1 10 2 0 0 6 7 25
Breast-ovarian cancer, familial, susceptibility to, 2 12 0 4 1 3 0 20
Breast-ovarian cancer, familial, susceptibility to, 1 12 0 0 3 3 0 18
Developmental and epileptic encephalopathy, 1 0 2 12 1 0 0 15
Autosomal recessive ataxia, Beauce type 3 1 10 0 0 0 14
Bethlem myopathy 1A 1 4 6 0 1 0 12
Cystic fibrosis 8 2 1 0 0 0 11
Leigh syndrome 0 4 6 0 0 0 10
Merosin deficient congenital muscular dystrophy 3 0 7 0 0 0 10
Autosomal recessive limb-girdle muscular dystrophy type 2J 1 0 7 0 0 0 8
Infantile neuroaxonal dystrophy 2 4 2 0 0 0 8
Mitochondrial complex I deficiency 0 1 6 1 0 0 8
Nemaline myopathy 2 3 1 4 0 0 0 8
Rett syndrome 3 1 1 2 1 0 8
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 7 0 0 0 7
Hereditary breast ovarian cancer syndrome 3 0 2 2 0 0 7
MYH7-related disorder 3 3 1 0 0 0 7
Ullrich congenital muscular dystrophy 1A 2 0 5 0 0 0 7
Developmental delay with autism spectrum disorder and gait instability 1 1 4 0 0 0 6
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 3 0 3 0 0 0 6
Glycogen storage disease type III 3 1 1 1 0 0 6
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2 1 3 0 0 0 6
Hereditary spastic paraplegia 5A 0 1 5 0 0 0 6
Hereditary spastic paraplegia 8 0 1 5 0 0 0 6
Microcephaly 5, primary, autosomal recessive 1 1 2 2 0 0 6
Mucopolysaccharidosis, MPS-III-A 5 1 0 0 0 0 6
Mucopolysaccharidosis, MPS-III-B 4 1 1 0 0 0 6
Phenylketonuria 3 3 0 0 0 0 6
Spinocerebellar ataxia type 42 0 0 5 1 0 0 6
TTN-related disorder 1 0 5 0 0 0 6
Wiedemann-Steiner syndrome 3 2 1 0 0 0 6
Aicardi-Goutieres syndrome 7 1 1 3 0 0 0 5
Androgen resistance syndrome 0 1 4 0 0 0 5
Central core myopathy 1 0 4 0 0 0 5
Ceroid lipofuscinosis, neuronal, 6A 3 1 1 0 0 0 5
Cobalamin C disease 4 0 1 0 0 0 5
Cohen syndrome 3 1 1 0 0 0 5
Distal myopathy with posterior leg and anterior hand involvement 0 0 5 0 0 0 5
Glycine encephalopathy 3 0 2 0 0 0 5
Glycogen storage disease, type V 1 1 3 0 0 0 5
Hereditary cancer-predisposing syndrome 0 0 2 1 2 0 5
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 3 0 2 0 0 0 5
Kabuki syndrome 1 1 0 3 0 1 0 5
Maple syrup urine disease 4 1 0 0 0 0 5
Megaconial type congenital muscular dystrophy 1 0 2 2 0 0 5
Schwartz-Jampel syndrome 0 0 5 0 0 0 5
Tay-Sachs disease 2 2 1 0 0 0 5
Wilson disease 2 0 3 0 0 0 5
beta Thalassemia 5 0 0 0 0 0 5
2-aminoadipic 2-oxoadipic aciduria 1 0 3 0 0 0 4
Arthrogryposis, distal, type 1A 0 0 4 0 0 0 4
Autosomal recessive nonsyndromic hearing loss 28 0 0 3 0 0 1 4
COACH syndrome 1 2 1 1 0 0 0 4
Classic homocystinuria 2 2 0 0 0 0 4
Cleidocranial dysostosis 0 0 4 0 0 0 4
Cone-rod dystrophy 6 3 0 1 0 0 0 4
Congenital multicore myopathy with external ophthalmoplegia 0 0 4 0 0 0 4
Congenital muscular dystrophy due to integrin alpha-7 deficiency 2 1 1 0 0 0 4
Congenital myopathy with fiber type disproportion 0 1 3 0 0 0 4
Early-onset myopathy with fatal cardiomyopathy 1 1 2 0 0 0 4
Familial colorectal cancer 1 1 1 0 1 0 4
Febrile seizures, familial, 1 0 0 4 0 0 0 4
Galactosylceramide beta-galactosidase deficiency 3 1 0 0 0 0 4
Gaucher disease type I 2 1 1 0 0 0 4
Glutaric aciduria, type 1 1 2 1 0 0 0 4
Glycogen storage disease IXa1 0 1 3 0 0 0 4
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 3 0 0 0 0 4
Intellectual disability, autosomal dominant 9 0 1 3 0 0 0 4
Joubert syndrome 0 1 2 1 0 0 4
Joubert syndrome 8 0 0 4 0 0 0 4
Joubert syndrome 9 1 1 2 0 0 0 4
Knobloch syndrome 1 1 2 0 0 0 4
Koolen-de Vries syndrome 0 0 4 0 0 0 4
Malignant hyperthermia, susceptibility to, 1 0 0 4 0 0 0 4
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 2 1 0 0 0 4
Methylmalonic aciduria, cblA type 1 1 2 0 0 0 4
Mitochondrial trifunctional protein deficiency 1 1 2 0 0 0 4
Mucopolysaccharidosis, MPS-IV-A 2 2 0 0 0 0 4
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 1 3 0 0 0 4
Neurofibromatosis, type 1 4 0 0 0 0 0 4
Neuropathy, hereditary sensory and autonomic, type 2A 0 1 3 0 0 0 4
RYR1-related disorder 1 0 3 0 0 0 4
Renal carnitine transport defect 3 1 0 0 0 0 4
Rubinstein-Taybi syndrome due to CREBBP mutations 1 0 3 0 0 0 4
Singleton-Merten syndrome 1 0 1 3 0 0 0 4
Steinert myotonic dystrophy syndrome 0 0 3 1 0 0 4
Type 2 diabetes mellitus 1 1 1 0 1 0 4
Usher syndrome type 1D 1 2 1 0 0 0 4
X-linked intellectual disability, Stocco dos Santos type 0 0 4 0 0 0 4
3-methylcrotonyl-CoA carboxylase 1 deficiency 0 0 3 0 0 0 3
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 1 0 2 0 0 0 3
Aicardi-Goutieres syndrome 1 1 1 1 0 0 0 3
Alagille syndrome due to a JAG1 point mutation 2 0 0 1 0 0 3
Allan-Herndon-Dudley syndrome 1 0 2 0 0 0 3
Alstrom syndrome 0 0 2 0 1 0 3
Arthrogryposis, distal, with impaired proprioception and touch 1 0 2 0 0 0 3
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 0 3 0 0 0 3
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 0 3 0 0 0 3
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 0 2 1 0 0 3
Autosomal dominant nonsyndromic hearing loss 4A 0 0 2 0 0 1 3
Autosomal recessive inherited pseudoxanthoma elasticum 0 0 3 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 9 0 0 3 0 0 0 3
Autosomal recessive osteopetrosis 1 1 0 2 0 0 0 3
Bardet-Biedl syndrome 14 1 0 2 0 0 0 3
Bardet-Biedl syndrome 7 1 2 0 0 0 0 3
Bardet-Biedl syndrome 9 3 0 0 0 0 0 3
Bartter disease type 3 2 0 1 0 0 0 3
Bartter disease type 4B 0 0 3 0 0 0 3
Blepharophimosis - intellectual disability syndrome, MKB type 0 0 3 0 0 0 3
CHARGE syndrome 0 0 2 1 0 0 3
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 2 1 0 0 3
Cerebrooculofacioskeletal syndrome 1 1 0 2 0 0 0 3
Charcot-Marie-Tooth disease type 4B3 0 1 2 0 0 0 3
Charcot-Marie-Tooth disease type 4F 1 0 2 0 0 0 3
Charlevoix-Saguenay spastic ataxia 3 0 0 0 0 0 3
Choroidal dystrophy, central areolar, 1 2 0 1 0 0 0 3
Cockayne syndrome type 2 2 0 1 0 0 0 3
Combined oxidative phosphorylation defect type 20 0 0 3 0 0 0 3
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0 2 1 0 0 0 3
Congenital muscular dystrophy due to LMNA mutation 0 1 2 0 0 0 3
Congenital myotonia, autosomal dominant form 0 0 3 0 0 0 3
Cornelia de Lange syndrome 1 1 1 0 1 0 0 3
D-Glyceric aciduria 0 1 2 0 0 0 3
Deficiency of butyryl-CoA dehydrogenase 1 2 0 0 0 0 3
Dejerine-Sottas disease 0 0 3 0 0 0 3
Developmental and epileptic encephalopathy, 2 2 0 0 1 0 0 3
Dilated cardiomyopathy 1G 2 0 1 0 0 0 3
Distal arthrogryposis type 2B1 0 0 3 0 0 0 3
Duchenne muscular dystrophy 2 0 0 0 1 0 3
Dystonia 27 1 0 2 0 0 0 3
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 0 3 0 0 0 3
Ehlers-Danlos syndrome, kyphoscoliotic type 1 1 0 2 0 0 0 3
Epiphyseal dysplasia, multiple, 3 0 0 3 0 0 0 3
FLNA-related disorder 0 0 3 0 0 0 3
Generalized epilepsy with febrile seizures plus, type 7 0 0 2 1 0 0 3
Glycogen storage disease IXb 0 0 3 0 0 0 3
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2 1 0 0 0 0 3
Glycogen storage disease, type II 2 1 0 0 0 0 3
Harel-Yoon syndrome 0 0 3 0 0 0 3
Hereditary spastic paraplegia 11 3 0 0 0 0 0 3
Hereditary spastic paraplegia 54 2 0 1 0 0 0 3
Hereditary spastic paraplegia 56 2 0 1 0 0 0 3
Hurler syndrome 2 1 0 0 0 0 3
Hydrocephalus, nonsyndromic, autosomal recessive 2 0 0 3 0 0 0 3
Hypokalemic periodic paralysis, type 1 0 0 3 0 0 0 3
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 2 1 0 0 0 3
Ichthyosis vulgaris 0 1 2 0 0 0 3
Intellectual disability, autosomal recessive 3 0 0 3 0 0 0 3
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 2 0 0 0 3
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 1 2 0 0 0 3
LAMA2-related muscular dystrophy 0 0 3 0 0 0 3
Leber congenital amaurosis 1 2 0 1 0 0 0 3
Lymphatic malformation 6 0 0 3 0 0 0 3
Marden-Walker syndrome 1 0 2 0 0 0 3
Menkes kinky-hair syndrome 0 2 1 0 0 0 3
Metachromatic leukodystrophy 1 2 0 0 0 0 3
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 1 0 2 0 0 0 3
Microcephaly 16, primary, autosomal recessive 0 0 3 0 0 0 3
Microcephaly 9, primary, autosomal recessive 0 1 2 0 0 0 3
Mitochondrial DNA depletion syndrome 1 1 1 1 0 0 0 3
Mitochondrial complex IV deficiency, nuclear type 1 1 1 1 0 0 0 3
Mucopolysaccharidosis, MPS-II 2 0 0 1 0 0 3
Mucopolysaccharidosis, MPS-III-C 2 0 1 0 0 0 3
Muscular dystrophy 0 2 1 0 0 0 3
Myelodysplastic syndrome 0 0 3 0 0 0 3
Myofibrillar myopathy 5 0 0 3 0 0 0 3
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 0 1 2 0 0 0 3
Neu-Laxova syndrome 1 1 1 1 0 0 0 3
Neuronal ceroid lipofuscinosis 1 1 0 2 0 0 0 3
Neuronal ceroid lipofuscinosis 5 1 0 2 0 0 0 3
Osteoporosis with pseudoglioma 0 3 0 0 0 0 3
PHGDH deficiency 0 2 1 0 0 0 3
POLG-related disorder 0 1 1 0 1 0 3
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 0 3 0 0 0 3
Periventricular nodular heterotopia 7 1 0 2 0 0 0 3
Peroxisome biogenesis disorder 1B 1 0 2 0 0 0 3
Peroxisome biogenesis disorder 3A (Zellweger) 1 1 1 0 0 0 3
Propionic acidemia 1 0 2 0 0 0 3
Severe myoclonic epilepsy in infancy 0 1 2 0 0 0 3
Smith-Lemli-Opitz syndrome 2 1 0 0 0 0 3
Sotos syndrome 0 0 2 1 0 0 3
Spastic paraplegia-severe developmental delay-epilepsy syndrome 1 1 1 0 0 0 3
Spinocerebellar ataxia type 6 0 1 2 0 0 0 3
Spongy degeneration of central nervous system 3 0 0 0 0 0 3
Ullrich congenital muscular dystrophy 0 0 3 0 0 0 3
Vanishing white matter disease 1 0 2 0 0 0 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2 0 0 0 0 0 2
5-Oxoprolinase deficiency 0 0 2 0 0 0 2
ABCA4-related disorder 1 1 0 0 0 0 2
AICA-ribosiduria 0 0 2 0 0 0 2
ALG2-congenital disorder of glycosylation 0 1 1 0 0 0 2
ALG3-congenital disorder of glycosylation 1 0 1 0 0 0 2
Acyl-CoA dehydrogenase 9 deficiency 1 0 1 0 0 0 2
Aicardi-Goutieres syndrome 4 0 0 2 0 0 0 2
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 2 0 0 0 2
Amyotrophic lateral sclerosis 0 0 1 1 0 0 2
Amyotrophic lateral sclerosis type 4 0 0 2 0 0 0 2
Aspartylglucosaminuria 0 0 2 0 0 0 2
Asphyxiating thoracic dystrophy 1 0 0 2 0 0 0 2
Ataxia-telangiectasia syndrome 2 0 0 0 0 0 2
Autoimmune lymphoproliferative syndrome type 1 0 0 1 1 0 0 2
Autosomal dominant auditory neuropathy 1 0 0 1 1 0 0 2
Autosomal dominant centronuclear myopathy 0 0 1 1 0 0 2
Autosomal dominant nocturnal frontal lobe epilepsy 3 0 0 2 0 0 0 2
Autosomal recessive congenital ichthyosis 1 0 0 2 0 0 0 2
Autosomal recessive congenital ichthyosis 2 1 1 0 0 0 0 2
Autosomal recessive distal renal tubular acidosis 1 0 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2C 1 0 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type R18 0 0 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 103 0 0 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 1A 2 0 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 22 0 0 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 23 0 1 1 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 3 0 1 1 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 77 1 0 1 0 0 0 2
Autosomal recessive spinocerebellar ataxia 20 1 0 1 0 0 0 2
Bethlem myopathy 2 0 0 2 0 0 0 2
Bilateral parasagittal parieto-occipital polymicrogyria 1 0 1 0 0 0 2
Bohring-Opitz syndrome 0 0 2 0 0 0 2
Bronchiectasis with or without elevated sweat chloride 2 0 0 2 0 0 0 2
COG5-congenital disorder of glycosylation 1 1 0 0 0 0 2
COG6-congenital disorder of glycosylation 0 0 2 0 0 0 2
Carnitine palmitoyltransferase II deficiency 1 0 1 0 0 0 2
Cataract 6 multiple types 0 0 2 0 0 0 2
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 1 0 0 0 2
Charcot-Marie-Tooth disease type 1D 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease type 2A2 0 1 1 0 0 0 2
Charcot-Marie-Tooth disease type 4B2 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease type 4H 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease type 4J 1 0 1 0 0 0 2
Chudley-McCullough syndrome 1 0 1 0 0 0 2
Citrullinemia type II 0 0 2 0 0 0 2
Coffin-Siris syndrome 0 0 2 0 0 0 2
Complex cortical dysplasia with other brain malformations 2 0 0 2 0 0 0 2
Congenital bile acid synthesis defect 2 2 0 0 0 0 0 2
Congenital contractural arachnodactyly 0 0 2 0 0 0 2
Congenital muscular dystrophy due to partial LAMA2 deficiency 0 0 2 0 0 0 2
Congenital myasthenic syndrome 4B 1 0 1 0 0 0 2
Congenital myasthenic syndrome 4C 0 0 2 0 0 0 2
Congenital myasthenic syndrome 5 1 0 1 0 0 0 2
Congenital myotonia, autosomal recessive form 0 0 2 0 0 0 2
Crigler-Najjar syndrome 1 0 1 0 0 0 2
Cystinuria 1 0 1 0 0 0 2
Deficiency of beta-ureidopropionase 1 0 1 0 0 0 2
Desbuquois dysplasia 1 0 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 14 0 0 2 0 0 0 2
Developmental and epileptic encephalopathy, 36 0 0 2 0 0 0 2
Developmental and epileptic encephalopathy, 42 0 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 53 0 0 2 0 0 0 2
Developmental and epileptic encephalopathy, 54 1 0 1 0 0 0 2
Developmental and epileptic encephalopathy, 7 0 2 0 0 0 0 2
Diamond-Blackfan anemia 6 0 0 2 0 0 0 2
Dilated cardiomyopathy 1A 0 2 0 0 0 0 2
Donnai-Barrow syndrome 0 0 2 0 0 0 2
Dopa-responsive dystonia due to sepiapterin reductase deficiency 2 0 0 0 0 0 2
Dyskinesia with orofacial involvement, autosomal dominant 0 0 2 0 0 0 2
Dystonia 23 0 0 2 0 0 0 2
ERCC2-related disorder 1 0 1 0 0 0 2
Early-onset Parkinson disease 20 0 0 2 0 0 0 2
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 0 2 0 0 0 2
Epidermolysis bullosa dystrophica 2 0 0 0 0 0 2
Episodic ataxia type 2 0 1 1 0 0 0 2
FG syndrome 2 0 0 2 0 0 0 2
Familial Mediterranean fever 1 0 0 1 0 0 2
Familial hemophagocytic lymphohistiocytosis 2 0 2 0 0 0 0 2
Familial hemophagocytic lymphohistiocytosis 3 1 0 1 0 0 0 2
Familial hyperinsulinism 0 1 1 0 0 0 2
Familial renal glucosuria 0 0 2 0 0 0 2
Fanconi anemia complementation group A 0 1 1 0 0 0 2
Fanconi-Bickel syndrome 2 0 0 0 0 0 2
Frontometaphyseal dysplasia 1 0 0 2 0 0 0 2
Frontotemporal dementia 0 0 2 0 0 0 2
Fructose-biphosphatase deficiency 1 0 1 0 0 0 2
Fucosidosis 0 1 1 0 0 0 2
GM3 synthase deficiency 0 0 2 0 0 0 2
Galloway-Mowat syndrome 1 0 0 2 0 0 0 2
Generalized epilepsy with febrile seizures plus, type 2 1 0 1 0 0 0 2
Glucocorticoid deficiency with achalasia 1 1 0 0 0 0 2
Glutaryl-CoA oxidase deficiency 0 0 2 0 0 0 2
Glycogen storage disease IXd 0 0 2 0 0 0 2
Glycogen storage disease, type VI 1 0 1 0 0 0 2
Gnathodiaphyseal dysplasia 1 0 1 0 0 0 2
Heimler syndrome 1 1 0 1 0 0 0 2
Hennekam lymphangiectasia-lymphedema syndrome 1 0 0 2 0 0 0 2
Hereditary spastic paraplegia 35 1 0 1 0 0 0 2
Hereditary spastic paraplegia 3A 0 1 1 0 0 0 2
Hereditary spastic paraplegia 50 1 1 0 0 0 0 2
Histiocytic medullary reticulosis 0 0 2 0 0 0 2
Houge-Janssens syndrome 1 1 0 1 0 0 0 2
Hydrocephalus 0 0 2 0 0 0 2
Hydrocephalus, nonsyndromic, autosomal recessive 1 0 0 2 0 0 0 2
Hyperinsulinemic hypoglycemia, familial, 1 1 0 1 0 0 0 2
Hypomyelinating leukodystrophy 11 0 1 1 0 0 0 2
Infantile GM1 gangliosidosis 1 1 0 0 0 0 2
Infantile cerebellar-retinal degeneration 0 0 2 0 0 0 2
Intellectual disability, FRA12A type 0 0 2 0 0 0 2
Intellectual disability, X-linked 1 1 0 1 0 0 0 2
Intellectual disability, X-linked 102 0 1 1 0 0 0 2
Intellectual disability, autosomal dominant 29 0 0 2 0 0 0 2
Intellectual disability, autosomal dominant 34 1 0 1 0 0 0 2
Intellectual disability, autosomal dominant 45 0 0 2 0 0 0 2
Intellectual disability, autosomal dominant 5 0 0 2 0 0 0 2
Intellectual disability, autosomal dominant 52 0 0 2 0 0 0 2
Intellectual disability, autosomal recessive 42 1 0 1 0 0 0 2
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 2 0 0 0 2
Interstitial lung disease due to ABCA3 deficiency 1 0 1 0 0 0 2
Isolated focal cortical dysplasia type II 0 0 2 0 0 0 2
Isovaleryl-CoA dehydrogenase deficiency 0 2 0 0 0 0 2
Joubert syndrome 23 1 0 1 0 0 0 2
Joubert syndrome 32 0 0 2 0 0 0 2
Joubert syndrome 5 1 0 1 0 0 0 2
Junctional epidermolysis bullosa gravis of Herlitz 1 0 1 0 0 0 2
Junctional epidermolysis bullosa, non-Herlitz type 1 0 1 0 0 0 2
KBG syndrome 0 0 1 1 0 0 2
Klippel-Feil syndrome 0 1 0 1 0 0 2
Landau-Kleffner syndrome 0 0 2 0 0 0 2
Larsen syndrome 0 1 1 0 0 0 2
Leber congenital amaurosis 6 2 0 0 0 0 0 2
Leber optic atrophy 1 1 0 0 0 0 2
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 0 0 2 0 0 0 2
Linear skin defects with multiple congenital anomalies 1 0 0 2 0 0 0 2
Low phospholipid associated cholelithiasis 1 0 1 0 0 0 2
Lysinuric protein intolerance 1 1 0 0 0 0 2
MIRAGE syndrome 0 1 1 0 0 0 2
Malignant tumor of breast 0 1 1 0 0 0 2
Mandibuloacral dysplasia with type A lipodystrophy 1 0 0 0 1 0 2
Meckel syndrome, type 1 1 0 1 0 0 0 2
Meckel syndrome, type 6 0 1 1 0 0 0 2
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 1 0 0 0 0 2
Megalencephalic leukoencephalopathy with subcortical cysts 0 0 2 0 0 0 2
Methylcobalamin deficiency type cblE 1 0 1 0 0 0 2
Methylmalonic acidemia with homocystinuria, type cblJ 0 0 1 1 0 0 2
Microcephalic osteodysplastic primordial dwarfism type II 0 1 1 0 0 0 2
Microcephalic primordial dwarfism due to ZNF335 deficiency 0 0 2 0 0 0 2
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0 0 2 0 0 0 2
Microcephaly-micromelia syndrome 0 0 2 0 0 0 2
Mitochondrial DNA depletion syndrome 4b 0 0 2 0 0 0 2
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2 0 0 0 0 0 2
Mitochondrial complex I deficiency, nuclear type 21 0 0 2 0 0 0 2
Mitochondrial complex II deficiency, nuclear type 1 0 1 1 0 0 0 2
Mitochondrial disease 0 0 0 0 2 0 2
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 1 0 1 0 0 0 2
Mucolipidosis type II 1 1 0 0 0 0 2
Mucopolysaccharidosis, MPS-IV-B 2 0 0 0 0 0 2
Multiple sulfatase deficiency 0 2 0 0 0 0 2
Myasthenic syndrome, congenital, 22 0 0 1 1 0 0 2
Myhre syndrome 2 0 0 0 0 0 2
Myopathy, RYR1-associated 0 0 2 0 0 0 2
Nemaline myopathy 6 0 0 2 0 0 0 2
Neoplasm of stomach 0 0 2 0 0 0 2
Neurodegeneration with brain iron accumulation 4 0 1 1 0 0 0 2
Neurodegeneration with brain iron accumulation 5 1 1 0 0 0 0 2
Neurodegeneration with brain iron accumulation 7 0 0 0 2 0 0 2
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 2 0 0 0 2
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 0 2 0 0 0 2
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 2 0 0 0 2
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 2 0 0 0 0 2
Neurodevelopmental disorder with severe motor impairment and absent language 0 0 2 0 0 0 2
Neuronal ceroid lipofuscinosis 2 1 1 0 0 0 0 2
Neuronopathy, distal hereditary motor, type 2D 0 0 2 0 0 0 2
Neutral 1 amino acid transport defect 0 0 2 0 0 0 2
Nicolaides-Baraitser syndrome 0 0 2 0 0 0 2
Niemann-Pick disease, type A 0 0 2 0 0 0 2
Niemann-Pick disease, type C1 2 0 0 0 0 0 2
Niemann-Pick disease, type C2 2 0 0 0 0 0 2
Nonpersistence of intestinal lactase 0 0 2 0 0 0 2
Noonan syndrome 1 1 0 0 0 0 2
Ornithine carbamoyltransferase deficiency 0 1 1 0 0 0 2
Osteogenesis imperfecta type 8 1 0 1 0 0 0 2
Peroxisome biogenesis disorder 1A (Zellweger) 1 0 1 0 0 0 2
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial 1 0 0 1 0 0 2
Pick disease 0 0 2 0 0 0 2
Pigmentary pallidal degeneration 1 0 1 0 0 0 2
Pontocerebellar hypoplasia type 1A 0 1 1 0 0 0 2
Pontocerebellar hypoplasia type 1B 1 1 0 0 0 0 2
Primary CD59 deficiency 0 0 2 0 0 0 2
Primary coenzyme Q10 deficiency 8 0 0 2 0 0 0 2
Primary erythromelalgia 0 0 2 0 0 0 2
Primary hyperoxaluria, type I 0 0 2 0 0 0 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 0 0 2 0 0 0 2
Progressive familial intrahepatic cholestasis type 2 0 0 2 0 0 0 2
Progressive familial intrahepatic cholestasis type 3 1 0 1 0 0 0 2
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 1 0 1 0 0 0 2
Progressive myoclonic epilepsy type 3 0 0 2 0 0 0 2
Progressive sclerosing poliodystrophy 1 0 1 0 0 0 2
Progressive supranuclear ophthalmoplegia 0 0 2 0 0 0 2
Pseudohypoaldosteronism, type IB1, autosomal recessive 0 0 2 0 0 0 2
Pyruvate carboxylase deficiency 0 0 2 0 0 0 2
Pyruvate kinase deficiency of red cells 1 1 0 0 0 0 2
Retinitis pigmentosa 0 1 1 0 0 0 2
Retinitis pigmentosa 38 1 0 1 0 0 0 2
Retinitis pigmentosa 73 1 0 1 0 0 0 2
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 1 0 0 1 0 0 2
Seizures-scoliosis-macrocephaly syndrome 0 0 2 0 0 0 2
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 0 0 2 0 0 0 2
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 0 2 0 0 0 2
Severe neonatal-onset encephalopathy with microcephaly 0 0 2 0 0 0 2
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 0 2 0 0 0 2
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 1 0 1 0 0 0 2
Sinoatrial node dysfunction and deafness 0 0 2 0 0 0 2
Sjögren-Larsson syndrome 0 1 1 0 0 0 2
Spastic ataxia 3 0 0 2 0 0 0 2
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 1 0 1 0 0 0 2
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 0 2 0 0 0 2
Spinocerebellar ataxia 7 0 0 2 0 0 0 2
Spinocerebellar ataxia type 28 1 0 1 0 0 0 2
Spinocerebellar ataxia type 5 0 0 1 1 0 0 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 0 2 0 0 0 2
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 0 0 2 0 0 0 2
Spondyloepiphyseal dysplasia with congenital joint dislocations 1 0 1 0 0 0 2
Succinate-semialdehyde dehydrogenase deficiency 2 0 0 0 0 0 2
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 0 1 1 0 0 0 2
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 1 0 1 0 0 0 2
Surfactant metabolism dysfunction, pulmonary, 1 1 0 1 0 0 0 2
Syndromic X-linked intellectual disability Claes-Jensen type 0 0 1 1 0 0 2
Thiel-Behnke corneal dystrophy 0 0 2 0 0 0 2
Transient infantile hypertriglyceridemia and hepatosteatosis 0 0 2 0 0 0 2
Tuberous sclerosis 2 0 0 2 0 0 0 2
Tyrosinemia type I 2 0 0 0 0 0 2
Ullrich congenital muscular dystrophy 2 0 1 1 0 0 0 2
Urofacial syndrome 2 0 0 2 0 0 0 2
Usher syndrome type 1 0 2 0 0 0 0 2
Usher syndrome type 1C 0 1 1 0 0 0 2
Usher syndrome type 2A 0 1 1 0 0 0 2
Usher syndrome type 2C 0 0 1 0 1 0 2
VPS13A-related neurodegenerative disease 1 0 1 0 0 0 2
Van Maldergem syndrome 2 0 0 2 0 0 0 2
Warsaw breakage syndrome 2 0 0 0 0 0 2
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 0 2 0 0 0 2
X-linked myopathy with postural muscle atrophy 0 0 2 0 0 0 2
X-linked reticulate pigmentary disorder 0 0 2 0 0 0 2
Yunis-Varon syndrome 1 0 1 0 0 0 2
alpha Thalassemia 2 0 0 0 0 0 2
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 1 0 0 0 0 0 1
3-Methylglutaconic aciduria 0 0 1 0 0 0 1
3-Methylglutaconic aciduria type 2 0 0 1 0 0 0 1
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 1 0 0 0 0 0 1
3-methylcrotonyl-CoA carboxylase 2 deficiency 0 1 0 0 0 0 1
3-methylglutaconic aciduria type 9 0 0 1 0 0 0 1
3-methylglutaconic aciduria, type VIIB 0 0 1 0 0 0 1
3M syndrome 1 0 0 1 0 0 0 1
3MC syndrome 2 0 0 1 0 0 0 1
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 0 1 0 0 0 0 1
AGK-related disorder 0 0 1 0 0 0 1
ALG1-congenital disorder of glycosylation 0 1 0 0 0 0 1
ALG12-congenital disorder of glycosylation 0 0 1 0 0 0 1
ARMC9-related Joubert syndrome 0 0 1 0 0 0 1
ATR-X-related syndrome 0 0 1 0 0 0 1
Abnormality of the eye 1 0 0 0 0 0 1
Acetyl-CoA acetyltransferase-2 deficiency 0 0 1 0 0 0 1
Achromatopsia 4 1 0 0 0 0 0 1
Acrocallosal syndrome 1 0 0 0 0 0 1
Acrodysostosis 2 with or without hormone resistance 0 0 1 0 0 0 1
Acromelic frontonasal dysostosis 0 0 1 0 0 0 1
Acromesomelic dysplasia 1, Maroteaux type 0 0 1 0 0 0 1
Acromicric dysplasia 0 0 1 0 0 0 1
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 0 1 0 0 0 0 1
Acute intermittent porphyria 0 1 0 0 0 0 1
Acute lymphoid leukemia 0 0 1 0 0 0 1
Adams-Oliver syndrome 1 0 0 0 1 0 0 1
Adams-Oliver syndrome 2 1 0 0 0 0 0 1
Adenosine kinase deficiency 0 0 1 0 0 0 1
Adenylosuccinate lyase deficiency 0 0 1 0 0 0 1
Adrenoleukodystrophy 0 0 1 0 0 0 1
Adult-onset autosomal dominant demyelinating leukodystrophy 0 0 1 0 0 0 1
Age related macular degeneration 1 0 0 0 1 0 0 1
Agenesis of the corpus callosum with peripheral neuropathy 0 0 1 0 0 0 1
Agnathia-otocephaly complex 0 0 1 0 0 0 1
Alagille syndrome, ATP8B1 related 0 0 1 0 0 0 1
Aland island eye disease 0 0 1 0 0 0 1
Alcohol sensitivity, acute 0 0 1 0 0 0 1
Alexander disease 0 0 1 0 0 0 1
Alkaline ceramidase 3 deficiency 1 0 0 0 0 0 1
Alkaptonuria 1 0 0 0 0 0 1
Alkuraya-Kucinskas syndrome 0 0 1 0 0 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 0 1 0 0 0 1
Alpha-N-acetylgalactosaminidase deficiency type 1 0 0 1 0 0 0 1
Amelocerebrohypohidrotic syndrome 0 0 1 0 0 0 1
Amelogenesis imperfecta type 1G 0 1 0 0 0 0 1
Aminoacylase 1 deficiency 0 1 0 0 0 0 1
Amyloidosis, hereditary systemic 1 0 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 11 0 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 21 0 0 1 0 0 0 1
Andersen Tawil syndrome 1 0 0 0 0 0 1
Androgen insensitivity, partial, with breast cancer 0 0 1 0 0 0 1
Anti-SEMA4D Monoclonal Antibody VX15/2503 0 0 1 0 0 0 1
Arginase deficiency 1 0 0 0 0 0 1
Arginine:glycine amidinotransferase deficiency 0 0 1 0 0 0 1
Argininosuccinate lyase deficiency 1 0 0 0 0 0 1
Arthrogryposis, renal dysfunction, and cholestasis 1 1 0 0 0 0 0 1
Ataxia - oculomotor apraxia type 4 0 0 1 0 0 0 1
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 1 0 0 0 0 0 1
Atelosteogenesis type II 1 0 0 0 0 0 1
Atrial fibrillation, familial, 10 1 0 0 0 0 0 1
Auriculocondylar syndrome 1 0 0 1 0 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 0 0 0 0 1 0 1
Autosomal dominant cerebellar ataxia, deafness and narcolepsy 0 0 1 0 0 0 1
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 1 0 0 0 0 1
Autosomal dominant limb-girdle muscular dystrophy type 1G 0 0 1 0 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 0 1 0 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 5 0 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 1 0 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 11 0 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 17 0 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 36 1 0 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 6 0 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 65 1 0 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 70 0 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 9 0 1 0 0 0 0 1
Autosomal dominant sensory ataxia 1 0 0 1 0 0 0 1
Autosomal dominant slowed nerve conduction velocity 0 0 1 0 0 0 1
Autosomal recessive agammaglobulinemia 1 0 0 1 0 0 0 1
Autosomal recessive ataxia due to ubiquinone deficiency 1 0 0 0 0 0 1
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 0 0 1 0 0 0 1
Autosomal recessive congenital ichthyosis 10 0 0 1 0 0 0 1
Autosomal recessive hypophosphatemic bone disease 0 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 1 0 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2D 1 0 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2I 0 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2L 0 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2N 0 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2O 0 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2U 0 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2W 0 0 1 0 0 0 1
Autosomal recessive myogenic arthrogryposis multiplex congenita 0 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 16 0 0 0 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 18A 0 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 29 0 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 30 0 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 31 0 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 4 1 0 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 49 0 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 53 0 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 63 0 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 67 0 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 86 1 0 0 0 0 0 1
Autosomal recessive sideroblastic anemia 0 0 1 0 0 0 1
Autosomal recessive spastic paraplegia type 78 0 0 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 15 0 0 1 0 0 0 1
Avascular necrosis of femoral head, primary, 1 0 1 0 0 0 0 1
BCS1L-related disorder 0 0 0 1 0 0 1
BMP4-Related Syndromic Microphthalmia 0 0 1 0 0 0 1
Bailey-Bloch congenital myopathy 0 0 1 0 0 0 1
Bardet-Biedl syndrome 1 0 0 0 0 0 1
Bardet-Biedl syndrome 10 1 0 0 0 0 0 1
Bardet-Biedl syndrome 11 0 0 0 1 0 0 1
Bardet-Biedl syndrome 12 0 0 1 0 0 0 1
Bardet-Biedl syndrome 16 0 0 1 0 0 0 1
Bardet-Biedl syndrome 17 0 0 1 0 0 0 1
Bardet-Biedl syndrome 18 0 0 1 0 0 0 1
Bardet-Biedl syndrome 4 0 0 1 0 0 0 1
Bardet-Biedl syndrome 6 1 0 0 0 0 0 1
Bardet-Biedl syndrome 8 1 0 0 0 0 0 1
Bartter disease type 1 0 0 1 0 0 0 1
Basal ganglia calcification, idiopathic, 6 0 0 1 0 0 0 1
Becker muscular dystrophy 0 0 1 0 0 0 1
Benign recurrent intrahepatic cholestasis type 1 0 0 1 0 0 0 1
Benign recurrent intrahepatic cholestasis type 2 0 0 1 0 0 0 1
Beta-D-mannosidosis 0 0 1 0 0 0 1
Bifunctional peroxisomal enzyme deficiency 0 0 1 0 0 0 1
Bilateral frontoparietal polymicrogyria 0 0 1 0 0 0 1
Biotin-responsive basal ganglia disease 1 0 0 0 0 0 1
Biotinidase deficiency 1 0 0 0 0 0 1
Birk-Barel syndrome 0 0 1 0 0 0 1
Blau syndrome 1 0 0 0 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome 1 0 0 0 0 0 1
Bloom syndrome 0 0 1 0 0 0 1
Bone fragility with contractures, arterial rupture, and deafness 0 0 1 0 0 0 1
Bone marrow failure syndrome 3 1 0 0 0 0 0 1
Boomerang dysplasia 0 0 1 0 0 0 1
Bradyopsia 0 0 1 0 0 0 1
Brain small vessel disease 2A, autosomal dominant 0 0 1 0 0 0 1
Breast neoplasm 0 1 0 0 0 0 1
Brown-Vialetto-van Laere syndrome 1 0 0 1 0 0 0 1
Brown-Vialetto-van Laere syndrome 2 0 0 1 0 0 0 1
Brugada syndrome 1 1 0 0 0 0 0 1
Brugada syndrome 9 0 1 0 0 0 0 1
CAPN3-related disorder 0 0 1 0 0 0 1
CD99 Positive Neoplastic Cells Present 0 0 1 0 0 0 1
CEP290-related disorder 0 0 1 0 0 0 1
CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED 0 0 1 0 0 0 1
CFHR5 deficiency 1 0 0 0 0 0 1
CHEK2-related cancer predisposition 0 0 1 0 0 0 1
CHIME syndrome 0 0 1 0 0 0 1
CHKB-Related Congenital Muscular Dystrophy (CHKB-CMD) 0 0 1 0 0 0 1
CHRNA1-Related Congenital Myasthenic Syndrome 0 0 1 0 0 0 1
COG4-congenital disorder of glycosylation 1 0 0 0 0 0 1
Carcinoma of colon 0 1 0 0 0 0 1
Cardiac valvular dysplasia, X-linked 0 0 1 0 0 0 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 0 0 1 0 0 0 1
Cardiomyopathy 0 0 0 1 0 0 1
Carney complex - trismus - pseudocamptodactyly syndrome 0 0 1 0 0 0 1
Carnitine acylcarnitine translocase deficiency 0 0 1 0 0 0 1
Carpal tunnel syndrome 0 0 1 0 0 0 1
Cataract 5 multiple types 0 0 1 0 0 0 1
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 0 0 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 5 1 0 0 0 0 0 1
Cenani-Lenz syndactyly syndrome 0 0 1 0 0 0 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 0 0 1 0 0 0 1
Cerebellar ataxia-hypogonadism syndrome 1 0 0 0 0 0 1
Cerebellar atrophy, visual impairment, and psychomotor retardation; 0 1 0 0 0 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 1 0 0 0 1
Cerebral amyloid angiopathy, APP-related 0 1 0 0 0 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 0 0 0 0 0 1
Cerebrooculofacioskeletal syndrome 3 0 1 0 0 0 0 1
Cerebrooculofacioskeletal syndrome 4 0 0 1 0 0 0 1
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2F 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2K 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2Q 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2V 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease recessive intermediate A 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease type 2B1 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease type 4A 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease type 4E 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4G 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4K 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 0 1 0 0 0 0 1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 1 0 0 0 0 0 1
Cholestanol storage disease 1 0 0 0 0 0 1
Cholestasis, intrahepatic, of pregnancy, 1 0 0 1 0 0 0 1
Cholestasis, intrahepatic, of pregnancy, 3 0 0 1 0 0 0 1
Citrullinemia type I 0 1 0 0 0 0 1
Classic dopamine transporter deficiency syndrome 0 0 1 0 0 0 1
Cobblestone lissencephaly without muscular or ocular involvement 0 0 1 0 0 0 1
Coenzyme Q10 deficiency, primary, 3 0 0 1 0 0 0 1
Coffin-Lowry syndrome 0 1 0 0 0 0 1
Coffin-Siris syndrome 6 0 0 0 0 1 0 1
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 0 1 0 0 0 1
Cold-induced sweating syndrome 2 0 0 1 0 0 0 1
Collagen 6-related myopathy 0 0 1 0 0 0 1
Colorectal cancer, hereditary nonpolyposis, type 2 0 1 0 0 0 0 1
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 0 0 1 0 0 0 1
Combined immunodeficiency due to STIM1 deficiency 0 0 0 1 0 0 1
Combined malonic and methylmalonic acidemia 0 0 1 0 0 0 1
Combined oxidative phosphorylation defect type 27 0 0 1 0 0 0 1
Complement component 2 deficiency 0 1 0 0 0 0 1
Complex cortical dysplasia with other brain malformations 1 0 0 1 0 0 0 1
Cone-rod dystrophy 13 1 0 0 0 0 0 1
Cone-rod dystrophy 2 0 1 0 0 0 0 1
Cone-rod dystrophy 3 1 0 0 0 0 0 1
Cone-rod dystrophy 7 0 0 1 0 0 0 1
Cone-rod dystrophy 9 1 0 0 0 0 0 1
Congenital Muscular Dystrophy, LAMA2-related 1 0 0 0 0 0 1
Congenital adrenal hypoplasia, X-linked 1 0 0 0 0 0 1
Congenital brain dysgenesis due to glutamine synthetase deficiency 0 0 1 0 0 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 0 1 0 0 0 1
Congenital disorder of glycosylation type Ir 0 1 0 0 0 0 1
Congenital glucose-galactose malabsorption 0 0 1 0 0 0 1
Congenital hyperammonemia, type I 1 0 0 0 0 0 1
Congenital insensitivity to pain-hypohidrosis syndrome 1 0 0 0 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 0 1 0 0 0 1
Congenital myasthenic syndrome 0 0 1 0 0 0 1
Congenital myasthenic syndrome 10 0 0 1 0 0 0 1
Congenital myasthenic syndrome 11 0 1 0 0 0 0 1
Congenital myasthenic syndrome 13 0 0 1 0 0 0 1
Congenital myasthenic syndrome 14 0 0 1 0 0 0 1
Congenital myasthenic syndrome 17 0 0 1 0 0 0 1
Congenital myasthenic syndrome 19 0 0 1 0 0 0 1
Congenital myasthenic syndrome 3A 0 0 1 0 0 0 1
Congenital myasthenic syndrome 3B 0 0 1 0 0 0 1
Congenital myasthenic syndrome 3C 0 0 1 0 0 0 1
Congenital myasthenic syndrome 4A 0 0 1 0 0 0 1
Congenital myasthenic syndrome 8 0 0 1 0 0 0 1
Congenital myopathy 23 0 0 1 0 0 0 1
Congenital myopathy 4B, autosomal recessive 1 0 0 0 0 0 1
Congenital myopathy with internal nuclei and atypical cores 0 0 1 0 0 0 1
Congenital prothrombin deficiency 1 0 0 0 0 0 1
Congenital stationary night blindness 1G 0 0 1 0 0 0 1
Congenital stationary night blindness 2A 0 0 1 0 0 0 1
Congenital stationary night blindness autosomal dominant 3 0 0 1 0 0 0 1
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 0 0 1 0 0 0 1
Corneal dystrophy, Fuchs endothelial, 3 0 0 1 0 0 0 1
Corneal dystrophy-perceptive deafness syndrome 0 1 0 0 0 0 1
Cortical dysplasia-focal epilepsy syndrome 1 0 0 0 0 0 1
Costello syndrome 0 0 1 0 0 0 1
Craniofrontonasal syndrome 0 0 1 0 0 0 1
Craniosynostosis and dental anomalies 0 0 1 0 0 0 1
Curry-Hall syndrome 0 0 1 0 0 0 1
Cutis laxa, autosomal recessive, type 1B 1 0 0 0 0 0 1
Cystathioninuria 0 0 1 0 0 0 1
DEND syndrome 1 0 0 0 0 0 1
DPAGT1-congenital disorder of glycosylation 0 0 1 0 0 0 1
DYSF-related disorder 0 0 1 0 0 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 0 1 0 0 0 0 1
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 0 0 0 0 1 0 1
Deficiency of 2-methylbutyryl-CoA dehydrogenase 0 0 1 0 0 0 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 0 1 0 0 0 0 1
Deficiency of acetyl-CoA acetyltransferase 1 0 0 0 0 0 1
Deficiency of adenosine deaminase 2 0 1 0 0 0 0 1
Deficiency of alpha-mannosidase 0 0 1 0 0 0 1
Deficiency of guanidinoacetate methyltransferase 1 0 0 0 0 0 1
Deficiency of hydroxymethylglutaryl-CoA lyase 1 0 0 0 0 0 1
Deficiency of malonyl-CoA decarboxylase 0 0 1 0 0 0 1
Deficiency of steroid 11-beta-monooxygenase 1 0 0 0 0 0 1
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0 0 1 0 0 0 1
Dermatitis, atopic, 2 1 0 0 0 0 0 1
Desmin-related myofibrillar myopathy 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy 92 0 0 0 0 1 0 1
Developmental and epileptic encephalopathy 93 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy 94 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 11 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 12 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 13 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 18 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 24 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 35 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 4 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 45 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 46 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 5 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 60 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 81 0 1 0 0 0 0 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 0 0 1 0 0 0 1
Dextro-looped transposition of the great arteries 0 0 1 0 0 0 1
Diamond-Blackfan anemia 7 1 0 0 0 0 0 1
Diamond-Blackfan anemia 8 0 0 1 0 0 0 1
Diaphanospondylodysostosis 0 0 1 0 0 0 1
Diaphyseal dysplasia 0 0 1 0 0 0 1
Diaphyseal medullary stenosis-bone malignancy syndrome 0 0 1 0 0 0 1
Diencephalic-mesencephalic junction dysplasia syndrome 1 0 0 1 0 0 0 1
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 1 0 0 0 0 1
Dilated cardiomyopathy 1E 1 0 0 0 0 0 1
Dilated cardiomyopathy 1JJ 0 0 1 0 0 0 1
Dilated cardiomyopathy 1KK 0 0 1 0 0 0 1
Dilated cardiomyopathy 1S 0 0 1 0 0 0 1
Dimethylglycine dehydrogenase deficiency 0 0 1 0 0 0 1
Dysequilibrium syndrome 0 0 1 0 0 0 1
Dyskeratosis congenita, autosomal recessive 3 1 0 0 0 0 0 1
Dyskeratosis congenita, autosomal recessive 5 0 0 1 0 0 0 1
Dystonia 28, childhood-onset 0 0 1 0 0 0 1
EEM syndrome 0 0 1 0 0 0 1
ERCC6-related disorder 0 0 1 0 0 0 1
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 0 1 0 0 0 0 1
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 1 0 0 0 0 0 1
Ectodermal dysplasia 4, hair/nail type 0 0 1 0 0 0 1
Ectopia lentis 1, isolated, autosomal dominant 0 0 1 0 0 0 1
Ectopia lentis 2, isolated, autosomal recessive 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, arthrochalasia type, 2 0 1 0 0 0 0 1
Ellis-van Creveld syndrome 0 0 1 0 0 0 1
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 0 0 1 0 0 0 1
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 0 0 1 0 0 0 1
Encephalopathy, progressive, with amyotrophy and optic atrophy 0 1 0 0 0 0 1
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive 0 0 1 0 0 0 1
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 0 0 1 0 0 0 1
Epidermolysis bullosa simplex with nail dystrophy 0 0 1 0 0 0 1
Epidermolysis bullosa simplex, Ogna type 0 0 1 0 0 0 1
Epilepsy, childhood absence, susceptibility to, 1 0 0 1 0 0 0 1
Epilepsy, familial adult myoclonic, 5 0 0 1 0 0 0 1
Epilepsy, familial focal, with variable foci 1 1 0 0 0 0 0 1
Epilepsy, familial focal, with variable foci 2 0 0 1 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 14 0 0 1 0 0 0 1
Epiphyseal dysplasia, multiple, 7 0 1 0 0 0 0 1
Erythrokeratodermia variabilis et progressiva 1 0 1 0 0 0 0 1
Ethylmalonic encephalopathy 0 0 1 0 0 0 1
Exostoses, multiple, type 2 0 0 1 0 0 0 1
Exudative vitreoretinopathy 2, X-linked 0 1 0 0 0 0 1
Exudative vitreoretinopathy 4 0 1 0 0 0 0 1
FASLG-Related Autoimmune Lymphoproliferative Syndrome 0 0 0 1 0 0 1
FG syndrome 1 0 0 1 0 0 0 1
FIG4-related disorder 0 0 1 0 0 0 1
FOXG1 disorder 0 1 0 0 0 0 1
Fabry disease 0 0 1 0 0 0 1
Factor VII deficiency 0 1 0 0 0 0 1
Familial Mediterranean fever, autosomal dominant 0 1 0 0 0 0 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 1 0 0 0 0 0 1
Familial acute necrotizing encephalopathy 0 1 0 0 0 0 1
Familial adenomatous polyposis 2 1 0 0 0 0 0 1
Familial apolipoprotein C-II deficiency 1 0 0 0 0 0 1
Familial cold autoinflammatory syndrome 1 0 0 0 1 0 0 1
Familial dysautonomia 0 0 1 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 5 0 0 1 0 0 0 1
Familial hypercholesterolemia 0 0 1 0 0 0 1
Familial hypokalemia-hypomagnesemia 0 0 1 0 0 0 1
Familial infantile myasthenia 0 1 0 0 0 0 1
Familial isolated deficiency of vitamin E 0 0 1 0 0 0 1
Familial meningioma 0 0 1 0 0 0 1
Familial porphyria cutanea tarda 1 0 0 0 0 0 1
Familial steroid-resistant nephrotic syndrome with sensorineural deafness 0 0 1 0 0 0 1
Fanconi anemia complementation group C 1 0 0 0 0 0 1
Fanconi anemia complementation group G 0 0 1 0 0 0 1
Fanconi renotubular syndrome 1 0 0 1 0 0 0 1
Farber lipogranulomatosis 0 0 1 0 0 0 1
Fasting plasma glucose level quantitative trait locus 1 0 0 1 0 0 0 1
Fetal akinesia deformation sequence 1 0 1 0 0 0 0 1
Fetal hemoglobin quantitative trait locus 5 0 1 0 0 0 0 1
Fibrochondrogenesis 1 0 0 1 0 0 0 1
Finnish congenital nephrotic syndrome 0 0 1 0 0 0 1
Fraser syndrome 1 0 0 1 0 0 0 1
Fraser syndrome 2 0 0 1 0 0 0 1
Frontonasal dysplasia with alopecia and genital anomaly 0 0 1 0 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 0 0 1 0 0 0 1
GLB1-related disorder 1 0 0 0 0 0 1
GNPTG-mucolipidosis 1 0 0 0 0 0 1
Gastrointestinal stromal tumor 0 0 1 0 0 0 1
Gaucher disease perinatal lethal 1 0 0 0 0 0 1
Geleophysic dysplasia 1 1 0 0 0 0 0 1
Geleophysic dysplasia 2 0 0 1 0 0 0 1
Geleophysic dysplasia 3 0 0 1 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 1 0 1 0 0 0 0 1
Generalized juvenile polyposis/juvenile polyposis coli 1 0 0 0 0 0 1
Geroderma osteodysplastica 0 0 1 0 0 0 1
Ghosal hematodiaphyseal dysplasia 0 0 1 0 0 0 1
Giant axonal neuropathy 1 0 0 1 0 0 0 1
Gillessen-Kaesbach-Nishimura syndrome 1 0 0 0 0 0 1
Glucose-6-phosphate transport defect 0 1 0 0 0 0 1
Glycogen storage disease XV 0 0 1 0 0 0 1
Glycogen storage disease due to muscle and heart glycogen synthase deficiency 0 1 0 0 0 0 1
Glycogen storage disease type X 0 1 0 0 0 0 1
Glycogen storage disease, type IV 1 0 0 0 0 0 1
Goldberg-Shprintzen syndrome 1 0 0 0 0 0 1
Gonadotropin deficiency 1 0 0 0 0 0 1
Gordon syndrome 0 0 1 0 0 0 1
Gorlin syndrome 1 0 0 0 0 0 1
Griscelli syndrome type 3 0 0 1 0 0 0 1
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 1 0 0 0 0 0 1
Growth delay due to insulin-like growth factor I resistance 0 0 1 0 0 0 1
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 0 1 0 0 0 1
H syndrome 1 0 0 0 0 0 1
HSD10 mitochondrial disease 0 0 1 0 0 0 1
Hajdu-Cheney syndrome 0 0 1 0 0 0 1
Hb SS disease 1 0 0 0 0 0 1
Hearing loss, autosomal dominant 34, with or without inflammation 0 0 0 1 0 0 1
Hearing loss, autosomal dominant 73 0 0 1 0 0 0 1
Hepatocellular carcinoma 0 1 0 0 0 0 1
Hereditary cancer 1 0 0 0 0 0 1
Hereditary cerebral hemorrhage with amyloidosis 0 1 0 0 0 0 1
Hereditary fructosuria 0 1 0 0 0 0 1
Hereditary sensory and autonomic neuropathy type 6 0 0 1 0 0 0 1
Hereditary sensory and autonomic neuropathy type 7 0 0 1 0 0 0 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia 0 0 1 0 0 0 1
Hereditary sensory neuropathy-deafness-dementia syndrome 0 0 1 0 0 0 1
Hereditary spastic paraplegia 10 0 0 1 0 0 0 1
Hereditary spastic paraplegia 12 0 0 1 0 0 0 1
Hereditary spastic paraplegia 15 0 0 1 0 0 0 1
Hereditary spastic paraplegia 4 0 0 1 0 0 0 1
Hereditary spastic paraplegia 46 0 0 1 0 0 0 1
Hereditary spastic paraplegia 49 1 0 0 0 0 0 1
Hereditary spastic paraplegia 64 0 0 1 0 0 0 1
Hereditary spastic paraplegia 7 1 0 0 0 0 0 1
Hereditary spastic paraplegia 73 0 0 0 1 0 0 1
Hereditary spastic paraplegia 75 0 0 1 0 0 0 1
Hermansky-Pudlak syndrome 3 0 1 0 0 0 0 1
Heterotopia, periventricular, X-linked dominant 0 0 1 0 0 0 1
Holoprosencephaly 3 0 0 1 0 0 0 1
Huntington disease-like 2 0 0 1 0 0 0 1
Hydrolethalus syndrome 2 0 0 1 0 0 0 1
Hypercholesterolemia, familial, 1 0 0 1 0 0 0 1
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 0 0 1 0 0 0 1
Hyperekplexia 1 1 0 0 0 0 0 1
Hyperhomocysteinemia 1 0 0 0 0 0 1
Hyperinsulinism-hyperammonemia syndrome 0 0 1 0 0 0 1
Hyperlipidemia, familial combined, LPL related 0 0 1 0 0 0 1
Hyperlipoproteinemia, type I 0 1 0 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 4 1 0 0 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 5 0 0 1 0 0 0 1
Hyperphosphatasia-intellectual disability syndrome 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 1 0 0 0 1 0 0 1
Hypertrophic cardiomyopathy 6 0 0 1 0 0 0 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 0 1 0 0 0 1
Hypogonadotropic hypogonadism 4 with or without anosmia 1 0 0 0 0 0 1
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 0 0 1 0 0 0 1
Hypohidrotic X-linked ectodermal dysplasia 1 0 0 0 0 0 1
Hypomyelinating leukodystrophy 9 1 0 0 0 0 0 1
Hypomyelination with brain stem and spinal cord involvement and leg spasticity 0 1 0 0 0 0 1
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 0 0 1 0 0 0 1
Hypospadias 1, X-linked 0 0 1 0 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 0 1 0 0 0 1
Hypouricemia, renal, 2 0 0 1 0 0 0 1
IFAP syndrome 1, with or without BRESHECK syndrome 0 0 1 0 0 0 1
Imerslund-Grasbeck syndrome 1 0 0 0 0 0 1
Immunodeficiency, common variable, 3 0 0 1 0 0 0 1
Immunodeficiency, common variable, 7 1 0 0 0 0 0 1
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 0 0 1 0 0 0 1
Infantile nephronophthisis 0 0 1 0 0 0 1
Infantile onset spinocerebellar ataxia 0 1 0 0 0 0 1
Infantile-onset X-linked spinal muscular atrophy 0 0 1 0 0 0 1
Intellectual developmental disorder with cardiac defects and dysmorphic facies 1 0 0 0 0 0 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 0 1 0 0 0 1
Intellectual disability, X-linked 101 0 0 1 0 0 0 1
Intellectual disability, X-linked 104 0 0 1 0 0 0 1
Intellectual disability, X-linked 106 0 0 1 0 0 0 1
Intellectual disability, X-linked 19 0 1 0 0 0 0 1
Intellectual disability, X-linked 30 0 0 1 0 0 0 1
Intellectual disability, X-linked 97 0 0 1 0 0 0 1
Intellectual disability, X-linked 99, syndromic, female-restricted 0 0 1 0 0 0 1
Intellectual disability, X-linked syndromic, Turner type 0 0 1 0 0 0 1
Intellectual disability, X-linked, syndromic, Houge type 1 0 0 0 0 0 1
Intellectual disability, X-linked, with panhypopituitarism 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 33 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 39 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 42 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 46 0 0 1 0 0 0 1
Intellectual disability, autosomal recessive 1 0 0 1 0 0 0 1
Intellectual disability, autosomal recessive 13 0 0 1 0 0 0 1
Intellectual disability, autosomal recessive 18 1 0 0 0 0 0 1
Intellectual disability, autosomal recessive 27 0 0 1 0 0 0 1
Intellectual disability, autosomal recessive 47 0 0 1 0 0 0 1
Intellectual disability, autosomal recessive 56 0 0 0 1 0 0 1
Intellectual disability, autosomal recessive 57 0 0 1 0 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 0 1 0 0 0 1
Intestinal hypomagnesemia 1 0 0 1 0 0 0 1
Intestinal pseudo-obstruction 1 0 0 0 0 0 1
Isolated microphthalmia 2 1 0 0 0 0 0 1
Isolated microphthalmia 5 1 0 0 0 0 0 1
Johanson-Blizzard syndrome 0 0 1 0 0 0 1
Joubert syndrome 14 0 0 1 0 0 0 1
Joubert syndrome 21 0 0 0 1 0 0 1
Joubert syndrome 3 1 0 0 0 0 0 1
Joubert syndrome 6 1 0 0 0 0 0 1
Joubert syndrome 7 1 0 0 0 0 0 1
Juvenile myelomonocytic leukemia 0 0 1 0 0 0 1
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 1 0 0 0 0 0 1
KCNJ10-related disorder 0 0 1 0 0 0 1
Keutel syndrome 0 0 0 1 0 0 1
Kleefstra syndrome 2 0 0 1 0 0 0 1
LIG4-related disorder 1 0 0 0 0 0 1
Lamb-Shaffer syndrome 0 0 1 0 0 0 1
Lathosterolosis 1 0 0 0 0 0 1
Leber congenital amaurosis 2 0 1 0 0 0 0 1
Leber congenital amaurosis 4 0 1 0 0 0 0 1
Leber congenital amaurosis 8 0 1 0 0 0 0 1
Left ventricular noncompaction 1 0 0 1 0 0 0 1
Lesch-Nyhan syndrome 1 0 0 0 0 0 1
Lethal Kniest-like syndrome 0 0 1 0 0 0 1
Lethal congenital contracture syndrome 1 0 0 1 0 0 0 1
Lethal congenital contracture syndrome 2 0 0 1 0 0 0 1
Lethal multiple pterygium syndrome 0 0 1 0 0 0 1
Lethal polymalformative syndrome, Boissel type 0 0 1 0 0 0 1
Leukocyte adhesion deficiency type II 0 0 1 0 0 0 1
Leukodystrophy and acquired microcephaly with or without dystonia; 0 0 1 0 0 0 1
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 0 0 1 0 0 0 1
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 1 0 0 0 0 0 1
Leukoencephalopathy with vanishing white matter 1 0 0 1 0 0 0 1
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 0 0 1 0 0 0 1
Lichtenstein-Knorr syndrome 0 0 1 0 0 0 1
Linear skin defects with multiple congenital anomalies 2 0 0 1 0 0 0 1
Lipid proteinosis 1 0 0 0 0 0 1
Long QT syndrome 3 1 0 0 0 0 0 1
Loricrin keratoderma 0 0 1 0 0 0 1
Lowe syndrome 0 0 1 0 0 0 1
Lower limb muscle weakness 1 0 0 0 0 0 1
Luscan-Lumish syndrome 0 0 1 0 0 0 1
Lymphangiomyomatosis 0 0 1 0 0 0 1
Lynch syndrome 1 0 0 1 0 0 0 1
MEGF10-related myopathy 0 0 1 0 0 0 1
METHYLMALONIC ACIDURIA, mut(0) TYPE 1 0 0 0 0 0 1
MVK-related disorder 1 0 0 0 0 0 1
MYH3-related disorder 0 0 1 0 0 0 1
MYH7-related skeletal myopathy 0 1 0 0 0 0 1
MYO7A-related disorder 0 0 1 0 0 0 1
Macrocephaly-autism syndrome 0 0 1 0 0 0 1
Macrocephaly-developmental delay syndrome 0 0 1 0 0 0 1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 0 1 0 0 0 1
Macular degeneration, age-related, 3 1 0 0 0 0 0 1
Macular degeneration, early-onset 0 0 1 0 0 0 1
Majeed syndrome 1 0 0 0 0 0 1
Malaria, susceptibility to 0 1 0 0 0 0 1
Marfan syndrome 0 0 1 0 0 0 1
Martsolf syndrome 0 1 0 0 0 0 1
Matthew-Wood syndrome 1 0 0 0 0 0 1
Maturity-onset diabetes of the young 0 0 0 0 1 0 1
Maturity-onset diabetes of the young type 8 0 0 1 0 0 0 1
Mayer-Rokitansky-Kuster-Hauser syndrome 0 0 1 0 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 1 0 0 1 0 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 2A 0 0 1 0 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability 0 0 1 0 0 0 1
Meier-Gorlin syndrome 1 0 0 1 0 0 0 1
Meier-Gorlin syndrome 3 1 0 0 0 0 0 1
Meier-Gorlin syndrome 4 0 0 1 0 0 0 1
Melanoma, cutaneous malignant, susceptibility to, 5 0 0 1 0 0 0 1
Melnick-Needles syndrome 0 0 1 0 0 0 1
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency 0 0 1 0 0 0 1
Metaphyseal chondrodysplasia, Schmid type 0 0 1 0 0 0 1
Metaphyseal chondrodysplasia, Spahr type 0 0 1 0 0 0 1
Methylmalonate semialdehyde dehydrogenase deficiency 1 0 0 0 0 0 1
Methylmalonic aciduria and homocystinuria type cblD 0 0 1 0 0 0 1
Methylmalonic aciduria, cblB type 1 0 0 0 0 0 1
Microcephalic primordial dwarfism, Alazami type 0 0 1 0 0 0 1
Microcephaly 1, primary, autosomal recessive 0 0 1 0 0 0 1
Microcephaly 3, primary, autosomal recessive 0 1 0 0 0 0 1
Microcephaly 6, primary, autosomal recessive 0 1 0 0 0 0 1
Microcephaly and chorioretinopathy 1 0 0 1 0 0 0 1
Microcephaly, short stature, and impaired glucose metabolism 2 0 0 1 0 0 0 1
Microcephaly, short stature, and limb abnormalities 1 0 0 0 0 0 1
Microcytic anemia with liver iron overload 0 0 1 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 0 1 0 0 0 1
Microphthalmia, isolated, with coloboma 3 1 0 0 0 0 0 1
Microphthalmia, isolated, with coloboma 5 0 0 1 0 0 0 1
Microphthalmia, syndromic 1 0 1 0 0 0 0 1
Microphthalmia, syndromic 12 0 1 0 0 0 0 1
Migraine 0 1 0 0 0 0 1
Migraine, familial hemiplegic, 1 0 1 0 0 0 0 1
Mitochondrial DNA deletion syndrome with progressive myopathy 0 1 0 0 0 0 1
Mitochondrial DNA depletion syndrome 13 1 0 0 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 19 0 1 0 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 29 1 0 0 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 4 0 0 1 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 6 0 0 1 0 0 0 1
Mitochondrial complex III deficiency nuclear type 8 0 1 0 0 0 0 1
Mitochondrial myopathy-lactic acidosis-deafness syndrome 0 0 1 0 0 0 1
Miyoshi muscular dystrophy 3 0 0 1 0 0 0 1
Mosaic variegated aneuploidy syndrome 2 0 1 0 0 0 0 1
Mucopolysaccharidosis type 6 0 1 0 0 0 0 1
Mucopolysaccharidosis type 7 0 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-III-D 0 0 1 0 0 0 1
Mulibrey nanism syndrome 0 0 1 0 0 0 1
Mullerian aplasia and hyperandrogenism 0 0 1 0 0 0 1
Multicentric osteolysis nodulosis arthropathy spectrum 1 0 0 0 0 0 1
Multiminicore myopathy 0 0 1 0 0 0 1
Multiple acyl-CoA dehydrogenase deficiency 0 0 1 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 3 0 0 1 0 0 0 1
Multiple epiphyseal dysplasia, Al-Gazali type 1 0 0 0 0 0 1
Multiple mitochondrial dysfunctions syndrome 3 0 1 0 0 0 0 1
Multiple system atrophy 0 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 1 0 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 0 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 0 0 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 0 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 0 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 0 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy type B5 0 0 1 0 0 0 1
Mycobacterium tuberculosis, susceptibility to 0 0 1 0 0 0 1
Myofibrillar myopathy 4 0 0 1 0 0 0 1
Myofibrillar myopathy 8 0 0 1 0 0 0 1
Myopathy due to calsequestrin and SERCA1 protein overload 0 0 0 1 0 0 1
Myopathy, centronuclear, 5 0 0 1 0 0 0 1
Myopathy, distal, 5 0 0 1 0 0 0 1
Myopathy, lactic acidosis, and sideroblastic anemia 1 0 1 0 0 0 0 1
Myopathy, proximal, and ophthalmoplegia 0 0 1 0 0 0 1
Myosin storage myopathy 0 1 0 0 0 0 1
Myotonic dystrophy 0 0 1 0 0 0 1
Nemaline myopathy 8 0 0 1 0 0 0 1
Neonatal intrahepatic cholestasis due to citrin deficiency 0 0 1 0 0 0 1
Neonatal pseudo-hydrocephalic progeroid syndrome 1 0 0 0 0 0 1
Neonatal-onset encephalopathy with rigidity and seizures 0 0 1 0 0 0 1
Nephronophthisis 15 0 1 0 0 0 0 1
Nephronophthisis 19 0 0 1 0 0 0 1
Nephrotic syndrome, type 2 0 0 1 0 0 0 1
Netherton syndrome 0 0 1 0 0 0 1
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency 0 1 0 0 0 0 1
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 1 0 0 0 0 0 1
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 1 0 0 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 0 1 0 0 0 1
Neurodevelopmental disorder with involuntary movements 0 1 0 0 0 0 1
Neurodevelopmental disorder with microcephaly, ataxia, and seizures 0 0 1 0 0 0 1
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 0 0 1 0 0 0 1
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 1 0 0 0 0 0 1
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 0 0 0 1 0 0 1
Neurodevelopmental disorder with visual defects and brain anomalies 0 1 0 0 0 0 1
Neurofibromatosis, type 2 0 0 1 0 0 0 1
Neuronal ceroid lipofuscinosis 11 0 0 1 0 0 0 1
Neuronal ceroid lipofuscinosis 7 0 0 1 0 0 0 1
Neuronal ceroid lipofuscinosis 8 0 0 1 0 0 0 1
Neuronopathy, distal hereditary motor, type 2C 0 0 1 0 0 0 1
Neuronopathy, distal hereditary motor, type 7B 0 0 1 0 0 0 1
Neuropathy, congenital hypomyelinating, 2 0 0 1 0 0 0 1
Neuropathy, hereditary motor and sensory, type 6B 0 0 1 0 0 0 1
Neuropathy, hereditary sensory and autonomic, type 1C 0 0 1 0 0 0 1
Neuropathy, hereditary sensory and autonomic, type 2B 1 0 0 0 0 0 1
Neuropathy, hereditary sensory, type 1D 0 1 0 0 0 0 1
Neutrophil immunodeficiency syndrome 0 0 1 0 0 0 1
Noonan syndrome 4 1 0 0 0 0 0 1
Noonan syndrome 7 0 1 0 0 0 0 1
Normophosphatemic familial tumoral calcinosis 0 0 1 0 0 0 1
Occipital pachygyria and polymicrogyria 0 0 1 0 0 0 1
Occult macular dystrophy 0 0 1 0 0 0 1
Oculocutaneous albinism type 1B 0 1 0 0 0 0 1
Oculofaciocardiodental syndrome 0 1 0 0 0 0 1
Oguchi disease 0 0 1 0 0 0 1
Orofaciodigital syndrome 18 0 0 1 0 0 0 1
Orofaciodigital syndrome type 14 0 0 1 0 0 0 1
Oroticaciduria 0 1 0 0 0 0 1
Osteoarthritis 0 0 1 0 0 0 1
Osteogenesis imperfecta 0 1 0 0 0 0 1
Osteogenesis imperfecta type 11 1 0 0 0 0 0 1
Osteogenesis imperfecta type I 1 0 0 0 0 0 1
Osteogenesis imperfecta type III 0 1 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 0 1 0 0 0 0 1
Osteopetrosis with renal tubular acidosis 1 0 0 0 0 0 1
Osteosclerotic metaphyseal dysplasia 1 0 0 0 0 0 1
Otitis media, susceptibility to 0 0 1 0 0 0 1
Ovarian neoplasm 0 1 0 0 0 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 1 0 0 0 0 0 1
PIK3CA related overgrowth syndrome 0 1 0 0 0 0 1
PLIN1-related familial partial lipodystrophy 0 0 1 0 0 0 1
POLE Exonuclease Domain Mutation 0 0 1 0 0 0 1
POMGNT1-related disorder 0 0 1 0 0 0 1
PRPH2-related disorder 0 0 1 0 0 0 1
PSEUDOARYLSULFATASE A DEFICIENCY 0 0 1 0 0 0 1
Pachyonychia congenita 1 0 0 1 0 0 0 1
Palmoplantar keratoderma, epidermolytic 0 0 1 0 0 0 1
Parkinson disease, late-onset 0 0 1 0 0 0 1
Paroxysmal nocturnal hemoglobinuria 1 0 0 1 0 0 0 1
Paroxysmal nonkinesigenic dyskinesia 1 0 0 1 0 0 0 1
Pearson syndrome 0 0 1 0 0 0 1
Pendred syndrome 0 1 0 0 0 0 1
Periodontitis, aggressive 0 1 0 0 0 0 1
Periventricular heterotopia with microcephaly, autosomal recessive 0 0 1 0 0 0 1
Periventricular nodular heterotopia 6 0 0 1 0 0 0 1
Perlman syndrome 0 0 1 0 0 0 1
Peroxisome biogenesis disorder 0 0 1 0 0 0 1
Peroxisome biogenesis disorder 11A (Zellweger) 0 0 1 0 0 0 1
Peroxisome biogenesis disorder 7A (Zellweger) 1 0 0 0 0 0 1
Peroxisome biogenesis disorder 7B 1 0 0 0 0 0 1
Perry syndrome 0 0 1 0 0 0 1
Persistent hyperplastic primary vitreous, autosomal recessive 1 0 0 0 0 0 1
Phytanic acid storage disease 0 0 0 0 1 0 1
Pigmented nodular adrenocortical disease, primary, 2 1 0 0 0 0 0 1
Pitt-Hopkins syndrome 0 0 1 0 0 0 1
Platelet-activating factor acetylhydrolase deficiency 0 0 1 0 0 0 1
Polyglucosan body myopathy type 2 0 0 1 0 0 0 1
Pontocerebellar hypoplasia type 2B 1 0 0 0 0 0 1
Pontocerebellar hypoplasia type 2D 0 0 1 0 0 0 1
Pontocerebellar hypoplasia type 6 0 0 1 0 0 0 1
Pontocerebellar hypoplasia type 9 0 0 1 0 0 0 1
Pontocerebellar hypoplasia, type 1C 0 0 1 0 0 0 1
Porokeratosis 7, multiple types 0 0 1 0 0 0 1
Porokeratosis 8, disseminated superficial actinic type 0 0 1 0 0 0 1
Postaxial polydactyly 0 0 0 0 1 0 1
Posterior column ataxia-retinitis pigmentosa syndrome 0 0 1 0 0 0 1
Prader-Willi syndrome 0 0 1 0 0 0 1
Primary ciliary dyskinesia 17 1 0 0 0 0 0 1
Primary ciliary dyskinesia 24 1 0 0 0 0 0 1
Primary failure of tooth eruption 0 0 1 0 0 0 1
Primary familial hypertrophic cardiomyopathy 0 1 0 0 0 0 1
Primrose syndrome 1 0 0 0 0 0 1
Progeroid and marfanoid aspect-lipodystrophy syndrome 0 0 1 0 0 0 1
Progressive encephalopathy with leukodystrophy due to DECR deficiency 0 0 1 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 0 0 0 1 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 1 0 0 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 0 0 1 0 0 0 1
Progressive familial heart block type IB 0 0 1 0 0 0 1
Progressive familial intrahepatic cholestasis type 1 0 0 1 0 0 0 1
Progressive myoclonic epilepsy type 8 0 0 1 0 0 0 1
Progressive myositis ossificans 1 0 0 0 0 0 1
Progressive pseudorheumatoid dysplasia 1 0 0 0 0 0 1
Prolidase deficiency 0 0 1 0 0 0 1
Proline dehydrogenase deficiency 0 0 1 0 0 0 1
Pseudo-Hurler polydystrophy 1 0 0 0 0 0 1
Pseudo-TORCH syndrome 1 1 0 0 0 0 0 1
Pseudohypoaldosteronism type 2C 0 0 1 0 0 0 1
Pseudohypoaldosteronism type 2D 0 0 1 0 0 0 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 0 0 1 0 0 0 1
Pulmonary hypertension, primary, 3 0 0 1 0 0 0 1
Purine-nucleoside phosphorylase deficiency 0 0 1 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 0 0 1
Pyruvate dehydrogenase E1-beta deficiency 0 0 1 0 0 0 1
RFT1-congenital disorder of glycosylation 0 0 1 0 0 0 1
Radial aplasia-thrombocytopenia syndrome 1 0 0 0 0 0 1
Rajab interstitial lung disease with brain calcifications 1 1 0 0 0 0 0 1
Recessive dystrophic epidermolysis bullosa 0 1 0 0 0 0 1
Reduced muscle fiber perlecan 0 0 1 0 0 0 1
Renal hypodysplasia/aplasia 1 0 0 0 1 0 0 1
Renal tubular acidosis with progressive nerve deafness 0 0 1 0 0 0 1
Renal tubular dysgenesis 0 0 1 0 0 0 1
Renal-hepatic-pancreatic dysplasia 2 0 0 1 0 0 0 1
Retinitis pigmentosa 30 0 0 1 0 0 0 1
Retinitis pigmentosa 41 1 0 0 0 0 0 1
Retinitis pigmentosa 68 0 0 1 0 0 0 1
Retinitis pigmentosa 7 0 0 1 0 0 0 1
Reynolds syndrome 0 1 0 0 0 0 1
Rhizomelic chondrodysplasia punctata type 2 0 0 1 0 0 0 1
Ritscher-Schinzel syndrome 2 0 0 1 0 0 0 1
Roberts-SC phocomelia syndrome 0 1 0 0 0 0 1
Rubinstein-Taybi syndrome 0 0 1 0 0 0 1
SERKAL syndrome 0 0 1 0 0 0 1
SHORT syndrome 0 0 1 0 0 0 1
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 0 0 1 0 0 0 1
SLC35A2-congenital disorder of glycosylation 0 0 1 0 0 0 1
SMARCB1-related schwannomatosis 0 0 1 0 0 0 1
STT3B-congenital disorder of glycosylation 0 0 1 0 0 0 1
Sandhoff disease 0 0 1 0 0 0 1
Schaaf-Yang syndrome 0 0 1 0 0 0 1
Schinzel-Giedion syndrome 0 0 1 0 0 0 1
Schizencephaly 0 0 1 0 0 0 1
Schizophrenia 4 0 0 1 0 0 0 1
Seckel syndrome 0 0 1 0 0 0 1
Seckel syndrome 9 0 0 1 0 0 0 1
Seizures, benign familial neonatal, 2 0 0 0 1 0 0 1
Severe combined immunodeficiency due to DNA-PKcs deficiency 0 0 1 0 0 0 1
Severe combined immunodeficiency due to IKK2 deficiency 0 0 0 1 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 0 0 0 1
Shashi-Pena syndrome 0 0 1 0 0 0 1
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 0 0 1 0 0 0 1
Short stature-optic atrophy-Pelger-Huët anomaly syndrome 0 0 1 0 0 0 1
Simpson-Golabi-Behmel syndrome type 1 1 0 0 0 0 0 1
Smith-Magenis syndrome 0 0 1 0 0 0 1
Solitary median maxillary central incisor syndrome 0 0 1 0 0 0 1
Spastic ataxia 5 0 0 1 0 0 0 1
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 1 0 0 0 0 0 1
Spastic paraplegia 30A, autosomal dominant 0 1 0 0 0 0 1
Spastic paraplegia 85, autosomal recessive 0 1 0 0 0 0 1
Spastic paraplegia 86, autosomal recessive 0 1 0 0 0 0 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 0 1 0 0 0 1
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 0 1 0 0 0 0 1
Spinocerebellar ataxia type 11 0 0 1 0 0 0 1
Spinocerebellar ataxia type 12 0 0 1 0 0 0 1
Spinocerebellar ataxia type 13 1 0 0 0 0 0 1
Spinocerebellar ataxia type 15/16 0 0 0 0 1 0 1
Spinocerebellar ataxia type 17 0 0 1 0 0 0 1
Spinocerebellar ataxia type 21 0 0 0 0 1 0 1
Spinocerebellar ataxia type 35 0 0 1 0 0 0 1
Spinocerebellar ataxia type 40 0 0 1 0 0 0 1
Spinocerebellar ataxia, autosomal recessive 26 0 0 1 0 0 0 1
Spondyloepiphyseal dysplasia congenita 0 0 1 0 0 0 1
Sporadic porphyria cutanea tarda 0 1 0 0 0 0 1
Stiff skin syndrome 0 0 1 0 0 0 1
Stuttering, familial persistent, 1 0 1 0 0 0 0 1
Stuve-Wiedemann syndrome 0 0 1 0 0 0 1
Sucrase-isomaltase deficiency 0 0 1 0 0 0 1
Sulfite oxidase deficiency 0 1 0 0 0 0 1
Syndromic X-linked intellectual disability 94 0 0 1 0 0 0 1
Syndromic X-linked intellectual disability Hedera type 0 0 1 0 0 0 1
Syndromic X-linked intellectual disability Najm type 1 0 0 0 0 0 1
Syndromic X-linked intellectual disability Shashi type 0 0 1 0 0 0 1
Syndromic X-linked intellectual disability Siderius type 0 0 1 0 0 0 1
Syndromic X-linked intellectual disability Snyder type 0 0 1 0 0 0 1
TELO2-related intellectual disability-neurodevelopmental disorder 0 0 1 0 0 0 1
TFRC-related combined immunodeficiency 1 0 0 0 0 0 1
TREX1-related disorder 0 0 1 0 0 0 1
Tangier disease 0 0 1 0 0 0 1
Temple-Baraitser syndrome 0 0 1 0 0 0 1
Temtamy preaxial brachydactyly syndrome 0 0 1 0 0 0 1
Terminal osseous dysplasia-pigmentary defects syndrome 0 0 1 0 0 0 1
Tetralogy of Fallot 1 0 0 0 0 0 1
Thrombocytopenia 2 0 0 1 0 0 0 1
Thyroid dyshormonogenesis 6 1 0 0 0 0 0 1
Timothy syndrome 0 0 1 0 0 0 1
Townes-Brocks syndrome 1 0 0 1 0 0 0 1
Transketolase deficiency 0 1 0 0 0 0 1
Treacher Collins syndrome 1 0 0 1 0 0 0 1
Treacher Collins syndrome 3 0 1 0 0 0 0 1
Trichorhinophalangeal dysplasia type I 0 1 0 0 0 0 1
Trichothiodystrophy 0 1 0 0 0 0 1
Trichothiodystrophy 1, photosensitive 0 0 1 0 0 0 1
Trichothiodystrophy 2, photosensitive 1 0 0 0 0 0 1
Trichothiodystrophy 3, photosensitive 0 1 0 0 0 0 1
Trichothiodystrophy 4, nonphotosensitive 0 0 1 0 0 0 1
Triglyceride storage disease with ichthyosis 0 0 1 0 0 0 1
Trigonocephaly 2 0 0 1 0 0 0 1
Triosephosphate isomerase deficiency 0 0 1 0 0 0 1
Troyer syndrome 1 0 0 0 0 0 1
Tuberous sclerosis 1 0 0 0 0 1 0 1
Tyrosinemia type III 1 0 0 0 0 0 1
USH2A-related disorder 1 0 0 0 0 0 1
Urocanate hydratase deficiency 0 0 1 0 0 0 1
Usher syndrome type 1F 0 1 0 0 0 0 1
Van Maldergem syndrome 1 0 0 1 0 0 0 1
Variegate porphyria 1 0 0 0 0 0 1
Ventricular fibrillation, paroxysmal familial, type 1 0 0 1 0 0 0 1
Vesicoureteral reflux 0 0 0 1 0 0 1
Vici syndrome 0 0 1 0 0 0 1
Vitamin D-dependent rickets type II with alopecia 0 0 1 0 0 0 1
Vitamin D-dependent rickets, type 1 0 1 0 0 0 0 1
WDR35-related disorder 0 0 1 0 0 0 1
WFS1-Related Spectrum Disorders 0 1 0 0 0 0 1
Waardenburg syndrome type 2A 0 0 1 0 0 0 1
Warburg micro syndrome 1 1 0 0 0 0 0 1
Wieacker-Wolff syndrome 0 1 0 0 0 0 1
X-linked Alport syndrome 0 0 1 0 0 0 1
X-linked Opitz G/BBB syndrome 0 0 1 0 0 0 1
X-linked chondrodysplasia punctata 1 0 1 0 0 0 0 1
X-linked complicated corpus callosum dysgenesis 1 0 0 0 0 0 1
X-linked cone-rod dystrophy 3 0 0 1 0 0 0 1
X-linked hydrocephalus syndrome 1 0 0 0 0 0 1
X-linked ichthyosis with steryl-sulfatase deficiency 0 0 1 0 0 0 1
X-linked intellectual disability-psychosis-macroorchidism syndrome 0 0 0 1 0 0 1
X-linked progressive cerebellar ataxia 0 0 1 0 0 0 1
Xeroderma pigmentosum, group D 0 0 1 0 0 0 1
Xeroderma pigmentosum-Cockayne syndrome complex 1 0 0 0 0 0 1
ZTTK syndrome 0 0 1 0 0 0 1
Zimmermann-Laband syndrome 1 0 0 1 0 0 0 1
autosomal recessive PIEZO2 associated disease 0 0 1 0 0 0 1

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