ABCA4 | 0 |
ABCC9 | 0 |
ACAN | 0 |
ACTA2 | 0 |
ACTC1 | 0 |
ACTG1 | 0 |
ACTN2 | 0 |
ACVR2B | 0 |
ADAM9 | 0 |
AHI1 | 0 |
AIPL1 | 0 |
ALS2 | 0 |
ANG | 0 |
ANK2 | 0 |
APOE | 0 |
APP | 0 |
ARL13B | 0 |
ARL6 | 0 |
ARVCF | 0 |
ATP6V0A2 | 0 |
ATP7A | 0 |
ATXN1 | 0 |
ATXN2 | 0 |
ATXN3 | 0 |
ATXN7 | 0 |
ATXN8 | 0 |
Achromatopsia | 0 |
Alzheimer disease, familial | 0 |
Amyotrophic lateral sclerosis | 0 |
Anophthalmia - Microphthalmia, isolated | 0 |
Arrhythmogenic right ventricular dysplasia | 0 |
Atrial fibrillation, familial | 0 |
Autosomal dominant Charcot-Marie-Tooth disease, type 2 | 0 |
Autosomal dominant cerebellar ataxia | 0 |
BAZ1B | 0 |
BBS1 | 0 |
BBS10 | 0 |
BBS12 | 0 |
BBS2 | 0 |
BBS4 | 0 |
BBS5 | 0 |
BBS7 | 0 |
BBS9 | 0 |
BCKDHA | 0 |
BCKDHB | 0 |
BCL7B | 0 |
BCR | 0 |
BCS1L | 0 |
BFSP1 | 0 |
BFSP2 | 0 |
BSND | 0 |
Bardet-Biedl syndrome | 0 |
Bartter syndrome | 0 |
C14orf104 | 0 |
C1QTNF5 | 0 |
C20orf7 | 0 |
C8orf38 | 0 |
CA4 | 0 |
CABP4 | 0 |
CACNA1A | 0 |
CACNA1C | 0 |
CACNA1F | 0 |
CACNA2D4 | 0 |
CAV3 | 0 |
CBFB | 0 |
CC2D2A | 0 |
CCDC50 | 0 |
CDH23 | 0 |
CEP290 | 0 |
CERKL | 0 |
CFC1 | 0 |
CFC1B | 0 |
CHMP2B | 0 |
CHMP4B | 0 |
CHST3 | 0 |
CLCNKA | 0 |
CLCNKB | 0 |
CLDN14 | 0 |
CLIP2 | 0 |
CLRN1 | 0 |
CNGA1 | 0 |
CNGA3 | 0 |
CNGB1 | 0 |
CNGB3 | 0 |
COCH | 0 |
COL11A1 | 0 |
COL11A2 | 0 |
COL17A1 | 0 |
COL2A1 | 0 |
COL7A1 | 0 |
COL9A1 | 0 |
COL9A2 | 0 |
COL9A3 | 0 |
COMP | 0 |
COX10 | 0 |
COX15 | 0 |
CRB1 | 0 |
CRX | 0 |
CRYAA | 0 |
CRYAB | 0 |
CRYBA1 | 0 |
CRYBA4 | 0 |
CRYBB1 | 0 |
CRYBB2 | 0 |
CRYBB3 | 0 |
CRYGC | 0 |
CRYGD | 0 |
CRYM | 0 |
CSRP3 | 0 |
Cardiomyopathy, familial dilated | 0 |
Cardiomyopathy, hypertrophic, primary or idiopathic | 0 |
Cataract, cerulean | 0 |
Cataract, posterior polar | 0 |
Cataract, pulverulent | 0 |
Cataract, zonular | 0 |
Charcot-Marie-Tooth disease, type 1 | 0 |
Coenzyme Q cytochrome c reductase deficiency | 0 |
Colon cancer, familial nonpolyposis | 0 |
Cone rod dystrophy | 0 |
Conotruncal heart malformations | 0 |
Cutis laxa | 0 |
DBT | 0 |
DDR2 | 0 |
DES | 0 |
DFNA5 | 0 |
DFNB31 | 0 |
DFNB59 | 0 |
DIAPH1 | 0 |
DLAT | 0 |
DLD | 0 |
DMD | 0 |
DNAH11 | 0 |
DNAH5 | 0 |
DNAI1 | 0 |
DNAI2 | 0 |
DNAJC30 | 0 |
DSC2 | 0 |
DSG2 | 0 |
DSP | 0 |
Deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA | 0 |
Deafness, autosomal recessive, nonsyndromic, sensorineural, type DFNB | 0 |
Dejerine-Sottas syndrome | 0 |
EFEMP2 | 0 |
EGR2 | 0 |
EIF4H | 0 |
ELN | 0 |
EMD | 0 |
EPHA2 | 0 |
ESPN | 0 |
ESRRB | 0 |
ETV6 | 0 |
EYA4 | 0 |
Emery-Dreifuss muscular dystrophy | 0 |
Epidermolysis bullosa, epidermolytic | 0 |
Epidermolysis bullosa, generalized atrophic benign | 0 |
Epidermolysis bullosa, junctional | 0 |
Epidermolysis bullosa, junctional, non-Herlitz type | 0 |
Epiphyseal dysplasia multiple | 0 |
FBLN5 | 0 |
FBN1 | 0 |
FGF14 | 0 |
FHL2 | 0 |
FIG4 | 0 |
FKBP6 | 0 |
FKRP | 0 |
FKTN | 0 |
FLT3 | 0 |
FSCN2 | 0 |
FUS | 0 |
Fatal infantile cytochrome C oxidase deficiency | 0 |
Frontotemporal dementia | 0 |
GARS | 0 |
GATA4 | 0 |
GDAP1 | 0 |
GDF1 | 0 |
GJA1 | 0 |
GJA3 | 0 |
GJA8 | 0 |
GJB2 | 0 |
GJB3 | 0 |
GJB6 | 0 |
GLIS2 | 0 |
GNAT1 | 0 |
GNAT2 | 0 |
GPR98 | 0 |
GRHL2 | 0 |
GRM6 | 0 |
GRN | 0 |
GTF2I | 0 |
GTF2IRD1 | 0 |
GTPBP3 | 0 |
GUCA1A | 0 |
GUCA1B | 0 |
GUCY2D | 0 |
HGF | 0 |
HMCN1 | 0 |
HSF4 | 0 |
HSPB1 | 0 |
HSPB8 | 0 |
HTRA1 | 0 |
Heterotaxia | 0 |
IDH3B | 0 |
IFRD1 | 0 |
IMPDH1 | 0 |
INPP5E | 0 |
INVS | 0 |
IQCB1 | 0 |
ITGA6 | 0 |
ITGB4 | 0 |
Interauricular communication | 0 |
JAG1 | 0 |
JUP | 0 |
Joubert syndrome | 0 |
KCNA5 | 0 |
KCNE1 | 0 |
KCNE2 | 0 |
KCNH2 | 0 |
KCNJ1 | 0 |
KCNJ10 | 0 |
KCNJ2 | 0 |
KCNQ1 | 0 |
KCNQ4 | 0 |
KCNV2 | 0 |
KIF1B | 0 |
KLHL7 | 0 |
KRT14 | 0 |
KRT5 | 0 |
LAMA3 | 0 |
LAMB3 | 0 |
LAMC2 | 0 |
LARGE | 0 |
LAT2 | 0 |
LCA5 | 0 |
LDB3 | 0 |
LEFTY2 | 0 |
LHFPL5 | 0 |
LIM2 | 0 |
LIMK1 | 0 |
LITAF | 0 |
LMNA | 0 |
LOX | 0 |
LRAT | 0 |
LRPPRC | 0 |
LRTOMT | 0 |
Leber amaurosis, congenital | 0 |
Leber hereditary optic neuropathy | 0 |
Leigh syndrome | 0 |
Leucinosis | 0 |
Leukemia, myeloid, acute | 0 |
Long QT syndrome, familial | 0 |
MAF | 0 |
MAPK1 | 0 |
MAPT | 0 |
MARVELD2 | 0 |
MATN3 | 0 |
MED13L | 0 |
MELAS syndrome | 0 |
MERTK | 0 |
MFN2 | 0 |
MFRP | 0 |
MIP | 0 |
MKKS | 0 |
MKS1 | 0 |
MLH1 | 0 |
MLH3 | 0 |
MLXIPL | 0 |
MMP13 | 0 |
MPZ | 0 |
MSH2 | 0 |
MSH6 | 0 |
MT-ATP6 | 0 |
MT-ATP8 | 0 |
MT-CO1 | 0 |
MT-CO3 | 0 |
MT-CYB | 0 |
MT-ND1 | 0 |
MT-ND2 | 0 |
MT-ND3 | 0 |
MT-ND4 | 0 |
MT-ND4L | 0 |
MT-ND5 | 0 |
MT-ND6 | 0 |
MYBPC3 | 0 |
MYH11 | 0 |
MYH14 | 0 |
MYH6 | 0 |
MYH7 | 0 |
MYH9 | 0 |
MYL2 | 0 |
MYL3 | 0 |
MYLK2 | 0 |
MYO15A | 0 |
MYO1A | 0 |
MYO3A | 0 |
MYO6 | 0 |
MYO7A | 0 |
Macular degeneration, age-related | 0 |
Meckel syndrome | 0 |
Medullary cystic kidney disease, autosomal recessive | 0 |
Monosomy 22q11 | 0 |
NADH-CoQ reductase deficiency | 0 |
NDUFA1 | 0 |
NDUFA11 | 0 |
NDUFAF2 | 0 |
NDUFAF3 | 0 |
NDUFAF4 | 0 |
NDUFS1 | 0 |
NDUFS2 | 0 |
NDUFS3 | 0 |
NDUFS4 | 0 |
NDUFS6 | 0 |
NDUFS7 | 0 |
NDUFS8 | 0 |
NDUFV1 | 0 |
NDUFV2 | 0 |
NEFH | 0 |
NEFL | 0 |
NEK8 | 0 |
NKX2-5 | 0 |
NPHP1 | 0 |
NPHP3 | 0 |
NPHP4 | 0 |
NPPA | 0 |
NR1H3 | 0 |
NR2E3 | 0 |
NRL | 0 |
NUP155 | 0 |
NYX | 0 |
Night blindness, stationary, congenital | 0 |
Non-syndromic congenital cataract | 0 |
Nonsyndromic genetic deafness | 0 |
OFD1 | 0 |
OLR1 | 0 |
OTOA | 0 |
OTOF | 0 |
OTX2 | 0 |
PAPSS2 | 0 |
PC | 0 |
PCDH15 | 0 |
PDE6A | 0 |
PDE6B | 0 |
PDE6C | 0 |
PDE6H | 0 |
PDGFRL | 0 |
PDHA1 | 0 |
PDHB | 0 |
PDHX | 0 |
PIK3CA | 0 |
PITX3 | 0 |
PKP2 | 0 |
PLEC1 | 0 |
PLEKHG5 | 0 |
PLN | 0 |
PMP22 | 0 |
PMS1 | 0 |
PMS2 | 0 |
POMGNT1 | 0 |
POMT1 | 0 |
POMT2 | 0 |
POU3F4 | 0 |
POU4F3 | 0 |
PPP2R2B | 0 |
PRCD | 0 |
PRKAG2 | 0 |
PRKCG | 0 |
PROM1 | 0 |
PRPF3 | 0 |
PRPF31 | 0 |
PRPF8 | 0 |
PRPH | 0 |
PRPH2 | 0 |
PRX | 0 |
PSEN1 | 0 |
PSEN2 | 0 |
Primary ciliary dyskinesia | 0 |
Progressive cone dystrophy | 0 |
Pyruvate dehydrogenase deficiency | 0 |
RAB7A | 0 |
RAX | 0 |
RAX2 | 0 |
RD3 | 0 |
RDH12 | 0 |
RDX | 0 |
RFC2 | 0 |
RGR | 0 |
RHO | 0 |
RIMS1 | 0 |
RLBP1 | 0 |
ROM1 | 0 |
RP1 | 0 |
RP2 | 0 |
RP9 | 0 |
RPE65 | 0 |
RPGR | 0 |
RPGRIP1 | 0 |
RPGRIP1L | 0 |
RSPH4A | 0 |
RSPH9 | 0 |
RYR2 | 0 |
Retinitis pigmentosa | 0 |
SCN4B | 0 |
SCN5A | 0 |
SCO1 | 0 |
SCO2 | 0 |
SDHA | 0 |
SEMA4A | 0 |
SETX | 0 |
SGCD | 0 |
SLC12A1 | 0 |
SLC17A8 | 0 |
SLC26A2 | 0 |
SLC26A4 | 0 |
SLC26A5 | 0 |
SOD1 | 0 |
SPATA7 | 0 |
SPTBN2 | 0 |
STRC | 0 |
SURF1 | 0 |
SYNE1 | 0 |
SYNE2 | 0 |
Senior-Loken syndrome | 0 |
Situs ambiguus | 0 |
Spondyloepimetaphyseal dysplasia | 0 |
Spondyloepiphyseal dysplasia | 0 |
Stickler syndrome | 0 |
TACO1 | 0 |
TARDBP | 0 |
TAZ | 0 |
TBL2 | 0 |
TBP | 0 |
TBX1 | 0 |
TCAP | 0 |
TECTA | 0 |
TFB1M | 0 |
TGFB3 | 0 |
TGFBR1 | 0 |
TGFBR2 | 0 |
TMC1 | 0 |
TMEM43 | 0 |
TMEM67 | 0 |
TMIE | 0 |
TMPO | 0 |
TMPRSS3 | 0 |
TNNC1 | 0 |
TNNI3 | 0 |
TNNT2 | 0 |
TOPORS | 0 |
TPM1 | 0 |
TRAPPC2 | 0 |
TRIM32 | 0 |
TRIOBP | 0 |
TRMU | 0 |
TTC8 | 0 |
TTN | 0 |
TULP1 | 0 |
TXNDC3 | 0 |
Tetralogy of Fallot | 0 |
Thoracic aortic aneurysm, familial form | 0 |
Transposition of the great arteries | 0 |
Transposition of the great arteries, right | 0 |
UFD1L | 0 |
UQCRB | 0 |
UQCRQ | 0 |
USH1C | 0 |
USH1G | 0 |
USH2A | 0 |
Usher syndrome | 0 |
VAPB | 0 |
VCL | 0 |
VSX2 | 0 |
WBSCR16 | 0 |
WBSCR22 | 0 |
WBSCR27 | 0 |
WFS1 | 0 |
WISP3 | 0 |
Walker-Warburg syndrome | 0 |
Williams syndrome | 0 |
ZFPM2 | 0 |
ZIC3 | 0 |
DIRC1 | 1 |
DIRC2 | 1 |
EGLN1 | 1 |
EPAS1 | 1 |
EPOR | 1 |
FHIT | 1 |
HIF1A | 1 |
HSPBAP1 | 1 |
OGG1 | 1 |
Primary familial polycythemia | 1 |
RNF139 | 1 |
Renal cell carcinoma, familial | 1 |
VHL | 1 |
Adrenoleukodystrophy, neonatal | 2 |
HSD17B4 | 2 |
PEX1 | 2 |
PEX10 | 2 |
PEX12 | 2 |
PEX13 | 2 |
PEX14 | 2 |
PEX16 | 2 |
PEX19 | 2 |
PEX26 | 2 |
PEX3 | 2 |
PEX5 | 2 |
PEX6 | 2 |
PXMP3 | 2 |
Refsum disease, infantile form | 2 |
Zellweger syndrome | 2 |
ACSL4 | 3 |
AGTR2 | 3 |
ARHGEF6 | 3 |
ARX | 3 |
Atypical Rett syndrome | 3 |
BRWD3 | 3 |
CC2D1A | 3 |
CDH15 | 3 |
CDKL5 | 3 |
CRBN | 3 |
DLG3 | 3 |
FG syndrome | 3 |
FLNA | 3 |
FOXG1 | 3 |
FTSJ1 | 3 |
GDI1 | 3 |
IL1RAPL1 | 3 |
KIRREL3 | 3 |
MECP2 | 3 |
MED12 | 3 |
NTNG1 | 3 |
PAK3 | 3 |
PRSS12 | 3 |
RPS6KA3 | 3 |
Rare intellectual deficit without developmental anomaly | 3 |
SYNGAP1 | 3 |
TSPAN7 | 3 |
TUSC3 | 3 |
UPF3B | 3 |
ZNF41 | 3 |
ZNF674 | 3 |
ZNF81 | 3 |
ACE | 4 |
AGT | 4 |
AGTR1 | 4 |
REN | 4 |
Renal tubular dysgenesis | 4 |
ACTA1 | 5 |
CFL2 | 5 |
MYH3 | 5 |
Mild nemaline myopathy | 5 |
NEB | 5 |
Nemaline myopathy | 5 |
Sheldon-Hall syndrome | 5 |
TNNI2 | 5 |
TNNT1 | 5 |
TNNT3 | 5 |
TPM2 | 5 |
TPM3 | 5 |
Beckwith-Wiedemann syndrome | 6 |
CDKN1C | 6 |
COPG2 | 6 |
CPA4 | 6 |
GRB10 | 6 |
IGF2 | 6 |
MEST | 6 |
NSD1 | 6 |
SLC22A18 | 6 |
Silver-Russell syndrome | 6 |
ANK1 | 7 |
EPB42 | 7 |
SLC4A1 | 7 |
SPTA1 | 7 |
SPTB | 7 |
Spherocytosis hereditary | 7 |
BMP4 | 8 |
Cleft lip with or without cleft palate | 8 |
FBXW4 | 8 |
IRF6 | 8 |
PVRL1 | 8 |
SHFM1 | 8 |
SUMO1 | 8 |
Split hand - split foot | 8 |
TGFA | 8 |
TP63 | 8 |
WNT10B | 8 |
HLA-DRB1 | 9 |
LOC100294161 | 9 |
LOC100294189 | 9 |
LOC100294468 | 9 |
Sarcoidosis | 9 |
CLINT1 | 10 |
DISC1 | 10 |
FXYD6 | 10 |
PRODH | 10 |
RGS4 | 10 |
Schizophrenia | 10 |
C10orf2 | 11 |
DGUOK | 11 |
MPV17 | 11 |
Mitochondrial DNA depletion syndrome | 11 |
POLG | 11 |
POLG2 | 11 |
Progressive external ophthalmoplegia | 11 |
SLC25A4 | 11 |
TK2 | 11 |
TYMP | 11 |
ASPM | 12 |
BARD1 | 12 |
BRCA1 | 12 |
BRCA2 | 12 |
BRIP1 | 12 |
Breast cancer, familial | 12 |
CDK5RAP2 | 12 |
CENPJ | 12 |
CHEK2 | 12 |
CYP11A1 | 12 |
CYP11B1 | 12 |
CYP17A1 | 12 |
CYP21A2 | 12 |
Congenital adrenal hyperplasia | 12 |
ELAC2 | 12 |
EPHB2 | 12 |
FANCA | 12 |
FANCB | 12 |
FANCC | 12 |
FANCD2 | 12 |
FANCE | 12 |
FANCF | 12 |
FANCG | 12 |
FANCI | 12 |
FANCL | 12 |
FANCM | 12 |
Fanconi anemia | 12 |
HLF | 12 |
HNF1B | 12 |
HSD17B3 | 12 |
HSD3B2 | 12 |
ING1 | 12 |
ING3 | 12 |
LMO1 | 12 |
LYL1 | 12 |
Leukemia, lymphoblastic, acute | 12 |
MCPH1 | 12 |
MLL | 12 |
MXI1 | 12 |
Microcephaly, isolated congenital | 12 |
PALB2 | 12 |
PBX1 | 12 |
PDGFRA | 12 |
PTEN | 12 |
Prostate cancer, familial | 12 |
RAD51 | 12 |
RNASEL | 12 |
SRD5A2 | 12 |
STIL | 12 |
Squamous cell carcinoma of head and neck | 12 |
TAL1 | 12 |
TAL2 | 12 |
TCF3 | 12 |
TLX1 | 12 |
TNFRSF10B | 12 |
BMP15 | 13 |
DIAPH2 | 13 |
FMR1 | 13 |
FOXL2 | 13 |
FSHR | 13 |
NOBOX | 13 |
POF1B | 13 |
Premature ovarian failure | 13 |
MAGEL2 | 14 |
NDN | 14 |
OCA2 | 14 |
Oculocutaneous albinism | 14 |
Prader-Willi syndrome | 14 |
SLC45A2 | 14 |
SNRPN | 14 |
TYR | 14 |
TYRP1 | 14 |
CSF2RA | 15 |
CSF2RB | 15 |
Pulmonary alveolar proteinosis | 15 |
SFTPB | 15 |
SFTPC | 15 |
NR3C2 | 16 |
Pseudohypoaldosteronism, type 1 | 16 |
SCNN1A | 16 |
SCNN1B | 16 |
SCNN1G | 16 |
COFS syndrome | 17 |
DDB2 | 17 |
ERCC1 | 17 |
ERCC2 | 17 |
ERCC3 | 17 |
ERCC4 | 17 |
ERCC5 | 17 |
ERCC6 | 17 |
POLH | 17 |
XPA | 17 |
XPC | 17 |
Xeroderma pigmentosum | 17 |
ALK | 18 |
ASCL1 | 18 |
BDNF | 18 |
CCDC6 | 18 |
ECE1 | 18 |
EDN3 | 18 |
EDNRB | 18 |
ERC1 | 18 |
GDNF | 18 |
GOLGA5 | 18 |
Hirschsprung disease | 18 |
L1CAM | 18 |
MYCN | 18 |
NCOA4 | 18 |
NME1 | 18 |
NRTN | 18 |
Neuroblastoma | 18 |
Ondine syndrome | 18 |
PCM1 | 18 |
PHOX2B | 18 |
RET | 18 |
TFG | 18 |
TPR | 18 |
TRIM24 | 18 |
TRIM27 | 18 |
TRIM33 | 18 |
Thyroid carcinoma, papillary or follicular | 18 |
SS18 | 19 |
SSX1 | 19 |
SSX2 | 19 |
SSX2B | 19 |
SSX2IP | 19 |
Synovialosarcoma | 19 |
Encephalopathy due to sulfite oxidase deficiency | 20 |
GLRA1 | 20 |
GLRB | 20 |
GPHN | 20 |
Hyperekplexia, hereditary | 20 |
MOCOS | 20 |
MOCS1 | 20 |
MOCS2 | 20 |
SLC6A5 | 20 |
SUOX | 20 |
XDH | 20 |
Xanthinuria | 20 |
CYP27B1 | 21 |
CYP2R1 | 21 |
Calcinosis, tumoral | 21 |
DMP1 | 21 |
FGF23 | 21 |
GALNT3 | 21 |
KL | 21 |
PHEX | 21 |
SAMD9 | 21 |
SLC34A3 | 21 |
VDR | 21 |
Vitamin D resistant rickets | 21 |
Leukemia, promyelocytic, acute | 22 |
NPM1 | 22 |
PML | 22 |
RARA | 22 |
ZBTB16 | 22 |
CLN3 | 23 |
CLN5 | 23 |
CLN6 | 23 |
CLN8 | 23 |
CTSD | 23 |
Late infantile neuronal ceroid lipofuscinosis | 23 |
MFSD8 | 23 |
Neuronal ceroid lipofuscinosis | 23 |
PPT1 | 23 |
TPP1 | 23 |
CHD7 | 24 |
FGF8 | 24 |
FGFR1 | 24 |
GNRH1 | 24 |
GNRHR | 24 |
KAL1 | 24 |
KISS1R | 24 |
Kallmann syndrome | 24 |
NELF | 24 |
Normosmic congenital hypogonadotropic hypogonadism | 24 |
PROK2 | 24 |
PROKR2 | 24 |
TAC3 | 24 |
TACR3 | 24 |
ABCC8 | 25 |
CEL | 25 |
Diabetes mellitus, neonatal | 25 |
Diabetes mellitus, neonatal, permanent | 25 |
GCK | 25 |
HADH | 25 |
HNF1A | 25 |
HNF4A | 25 |
INS | 25 |
INSR | 25 |
KCNJ11 | 25 |
KLF11 | 25 |
MODY syndrome | 25 |
NEUROD1 | 25 |
PAX4 | 25 |
PDX1 | 25 |
PTF1A | 25 |
Persistent hyperinsulinemic hypoglycemia of infancy | 25 |
SLC16A1 | 25 |
ZFP57 | 25 |
CHAT | 26 |
CHRNA1 | 26 |
CHRNB1 | 26 |
CHRND | 26 |
CHRNE | 26 |
CHRNG | 26 |
COLQ | 26 |
Congenital myasthenic syndromes | 26 |
DOK7 | 26 |
LAMB2 | 26 |
MUSK | 26 |
Multiple pterygium syndrome, lethal form | 26 |
Postsynaptic congenital myasthenic syndromes | 26 |
RAPSN | 26 |
SCN4A | 26 |
GNS | 27 |
HGSNAT | 27 |
Mucopolysaccharidosis type 3 | 27 |
NAGLU | 27 |
SGSH | 27 |
KRT81 | 28 |
KRT83 | 28 |
KRT86 | 28 |
LOC100293351 | 28 |
Monilethrix | 28 |
BCL10 | 29 |
BIRC3 | 29 |
FOXP1 | 29 |
MALT lymphoma | 29 |
MALT1 | 29 |
APOA5 | 30 |
APOC2 | 30 |
GPIHBP1 | 30 |
LIPI | 30 |
LPL | 30 |
Major hypertriglyceridemia | 30 |
IFNGR1 | 31 |
IFNGR2 | 31 |
IL12B | 31 |
IL12RB1 | 31 |
Mendelian susceptibility to atypical mycobacteria | 31 |
STAT1 | 31 |
APC | 32 |
CTNNB1 | 32 |
Medulloblastoma | 32 |
PTCH2 | 32 |
SUFU | 32 |
BRAF | 33 |
CDKN2A | 33 |
Cardiofaciocutaneous syndrome | 33 |
DMBT1 | 33 |
EGFR | 33 |
GLI1 | 33 |
GLTSCR1 | 33 |
GLTSCR2 | 33 |
Glioblastoma | 33 |
KRAS | 33 |
LRRN2 | 33 |
MANF | 33 |
MAP2K1 | 33 |
MAP2K2 | 33 |
Noonan syndrome | 33 |
PTPN11 | 33 |
Pancreatic carcinoma, familial | 33 |
RAF1 | 33 |
SMAD4 | 33 |
SOS1 | 33 |
TP53 | 33 |
YEATS4 | 33 |
MTHFD1 | 34 |
MTHFR | 34 |
MTR | 34 |
Neural tube defect | 34 |
T | 34 |
VANGL1 | 34 |
HESX1 | 35 |
LHX3 | 35 |
Nonacquired combined pituitary hormone deficiency | 35 |
POU1F1 | 35 |
PROP1 | 35 |
GJC2 | 36 |
HSPD1 | 36 |
PLP1 | 36 |
Pelizaeus-Merzbacher disease | 36 |
SLC16A2 | 36 |
ATP13A2 | 37 |
GIGYF2 | 37 |
HTRA2 | 37 |
LRRK2 | 37 |
NR4A2 | 37 |
PACRG | 37 |
PARK2 | 37 |
PARK7 | 37 |
PINK1 | 37 |
Parkinson disease, genetic type | 37 |
SNCA | 37 |
UCHL1 | 37 |
CYP1B1 | 38 |
FOXC1 | 38 |
Glaucoma, congenital | 38 |
Glaucoma, hereditary | 38 |
HDAC9 | 38 |
LTBP2 | 38 |
MYOC | 38 |
OPTN | 38 |
PAX6 | 38 |
PITX2 | 38 |
Peters anomaly | 38 |
TGFB2 | 38 |
WDR36 | 38 |
Pontocerebellar hypoplasia | 39 |
RARS2 | 39 |
TSEN2 | 39 |
TSEN34 | 39 |
TSEN54 | 39 |
GPR56 | 40 |
NHEJ1 | 40 |
Polymicrogyria | 40 |
SRPX2 | 40 |
TUBB2B | 40 |
ALAS2 | 41 |
FECH | 41 |
HAMP | 41 |
HFE | 41 |
HFE2 | 41 |
Hemochromatosis | 41 |
Porphyria | 41 |
TFR2 | 41 |
UROD | 41 |
UROS | 41 |
DCLRE1C | 42 |
LIG4 | 42 |
Omenn syndrome | 42 |
RAG1 | 42 |
RAG2 | 42 |
KRT16 | 43 |
KRT17 | 43 |
KRT6A | 43 |
KRT6B | 43 |
Pachyonychia congenita | 43 |
COL1A1 | 44 |
COL1A2 | 44 |
COL3A1 | 44 |
COL5A1 | 44 |
COL5A2 | 44 |
CRTAP | 44 |
Classic Ehlers-Danlos syndrome | 44 |
LEPRE1 | 44 |
Osteogenesis imperfecta | 44 |
TNXB | 44 |
DKC1 | 45 |
Dyskeratosis congenita | 45 |
IFNG | 45 |
Idiopathic aplastic anemia | 45 |
NHP2 | 45 |
NOP10 | 45 |
PRF1 | 45 |
SBDS | 45 |
TERT | 45 |
TINF2 | 45 |
Crohn disease | 46 |
IL10 | 46 |
IL23R | 46 |
NOD2 | 46 |
SLC22A4 | 46 |
Crigler-Najjar syndrome | 47 |
Gilbert syndrome | 47 |
Hyperbilirubinemia transient familial neonatal | 47 |
UGT1A1 | 47 |
UGT1A10 | 47 |
UGT1A3 | 47 |
UGT1A4 | 47 |
UGT1A5 | 47 |
UGT1A6 | 47 |
UGT1A7 | 47 |
UGT1A8 | 47 |
UGT1A9 | 47 |
GABRD | 48 |
GABRG2 | 48 |
Generalized epilepsy with febrile seizures-plus context | 48 |
SCN1A | 48 |
SCN1B | 48 |
SCN2A | 48 |
ERG | 49 |
ETV1 | 49 |
EWSR1 | 49 |
Ewing sarcoma | 49 |
FLI1 | 49 |
NR4A3 | 49 |
ABCA12 | 50 |
ABHD5 | 50 |
ALOX12B | 50 |
ALOXE3 | 50 |
CYP4F22 | 50 |
Erythroderma, congenital ichthyosiform, nonbullous | 50 |
Ichthyosis, lamellar | 50 |
KRT1 | 50 |
KRT10 | 50 |
TGM1 | 50 |
FOXH1 | 51 |
GLI2 | 51 |
Holoprosencephaly | 51 |
PTCH1 | 51 |
SHH | 51 |
SIX3 | 51 |
TDGF1 | 51 |
TGIF1 | 51 |
ZIC2 | 51 |
ABCG5 | 52 |
ABCG8 | 52 |
APOB | 52 |
Hypercholesterolemia, familial | 52 |
LDLR | 52 |
LDLRAP1 | 52 |
PCSK9 | 52 |
SREBF2 | 52 |
Hereditary pheochromocytoma-paraganglioma syndrome | 53 |
SDHAF2 | 53 |
SDHB | 53 |
SDHC | 53 |
SDHD | 53 |
BLOC1S3 | 54 |
DTNBP1 | 54 |
HPS1 | 54 |
HPS3 | 54 |
HPS4 | 54 |
HPS5 | 54 |
HPS6 | 54 |
Hermansky-Pudlak syndrome | 54 |
CYBA | 55 |
CYBB | 55 |
Granulomatous disease, chronic | 55 |
NCF1 | 55 |
NCF2 | 55 |
NCF4 | 55 |
CFTR | 56 |
CTRC | 56 |
Hereditary chronic pancreatitis | 56 |
PRSS1 | 56 |
PRSS2 | 56 |
REG1A | 56 |
SPINK1 | 56 |
ETFA | 57 |
ETFB | 57 |
ETFDH | 57 |
GCDH | 57 |
Glutaryl-CoA dehydrogenase deficiency | 57 |
DHH | 58 |
DMRT1 | 58 |
DMRT2 | 58 |
Gonadal dysgenesis, XY female type | 58 |
NR0B1 | 58 |
NR5A1 | 58 |
SRY | 58 |
ABCD1 | 59 |
AMN | 59 |
CUBN | 59 |
DHFR | 59 |
Graesbeck-Imerslund disease | 59 |
Atypical hemolytic uremic syndrome | 60 |
C2 | 60 |
C3 | 60 |
C4A | 60 |
C4B | 60 |
C5 | 60 |
C6 | 60 |
C7 | 60 |
C8A | 60 |
C8B | 60 |
C8G | 60 |
C9 | 60 |
CD46 | 60 |
CFH | 60 |
CFI | 60 |
Immunodeficiency with a complement cascade protein anomaly | 60 |
SERPING1 | 60 |
CACNB4 | 61 |
EFHC1 | 61 |
GABRA1 | 61 |
JRK | 61 |
Juvenile myoclonic epilepsy | 61 |
KCNQ3 | 61 |
CIITA | 62 |
Immunodeficiency by defective expression of HLA class 2 | 62 |
RFX5 | 62 |
RFXANK | 62 |
RFXAP | 62 |
TAP2 | 62 |
Iminoglycinuria | 63 |
SLC36A2 | 63 |
SLC6A18 | 63 |
SLC6A19 | 63 |
SLC6A20 | 63 |
DUOX2 | 64 |
DUOXA2 | 64 |
Hypothyroidism, congenital | 64 |
IYD | 64 |
NKX2-1 | 64 |
PAX8 | 64 |
SLC5A5 | 64 |
TPO | 64 |
TRH | 64 |
TSHB | 64 |
TSHR | 64 |
AICDA | 65 |
CD40 | 65 |
Hyper-IgM syndrome | 65 |
IKBKG | 65 |
UNG | 65 |
AXIN2 | 66 |
EDA | 66 |
Hypodontia | 66 |
MSX1 | 66 |
PAX9 | 66 |
WNT10A | 66 |
AUTS2 | 67 |
Autism | 67 |
EN2 | 67 |
GABRB3 | 67 |
MET | 67 |
NLGN3 | 67 |
NLGN4X | 67 |
NRXN1 | 67 |
RPL10 | 67 |
Autosomal dominant centronuclear myopathy | 68 |
BIN1 | 68 |
Centronuclear myopathy | 68 |
DNM2 | 68 |
MAMLD1 | 68 |
MTM1 | 68 |
MTMR14 | 68 |
MYF6 | 68 |
RYR1 | 68 |
Autoimmune lymphoproliferative syndrome | 69 |
CASP10 | 69 |
CASP8 | 69 |
FAS | 69 |
FASLG | 69 |
Autosomal recessive spondylocostal dysostosis | 70 |
DLL3 | 70 |
HES7 | 70 |
LFNG | 70 |
MESP2 | 70 |
Autosomal recessive malignant osteopetrosis | 71 |
CLCN7 | 71 |
OSTM1 | 71 |
TCIRG1 | 71 |
TNFRSF11A | 71 |
TNFSF11 | 71 |
AKR1D1 | 72 |
AMACR | 72 |
Bile acid synthesis defect with cholestasis and malabsorption | 72 |
CYP7B1 | 72 |
HSD3B7 | 72 |
Blackfan-Diamond disease | 73 |
RPL11 | 73 |
RPL35A | 73 |
RPL5 | 73 |
RPS17 | 73 |
RPS19 | 73 |
RPS24 | 73 |
RPS7 | 73 |
CACH syndrome | 74 |
Congenital or early infantile CACH syndrome | 74 |
Cree leukoencephalopathy | 74 |
EIF2B1 | 74 |
EIF2B2 | 74 |
EIF2B3 | 74 |
EIF2B4 | 74 |
EIF2B5 | 74 |
Juvenile or adult CACH syndrome | 74 |
Late infantile CACH syndrome | 74 |
Ovarioleukodystrophy | 74 |
BMPR1B | 75 |
Brachydactyly | 75 |
GDF5 | 75 |
HOXD13 | 75 |
IHH | 75 |
ROR2 | 75 |
Chromosome Y deletion | 76 |
DAZ1 | 76 |
DAZ2 | 76 |
DAZ3 | 76 |
DAZ4 | 76 |
DDX3Y | 76 |
RBMY1A1 | 76 |
USP9Y | 76 |
CHST6 | 77 |
COL8A2 | 77 |
Corneal dystrophy | 77 |
DCN | 77 |
KRT12 | 77 |
KRT3 | 77 |
PIKFYVE | 77 |
SLC4A11 | 77 |
TACSTD2 | 77 |
TGFBI | 77 |
VSX1 | 77 |
ZEB1 | 77 |
APOA1 | 78 |
APOA2 | 78 |
Amyloid nephropathy, familial | 78 |
Amyloidosis | 78 |
CST3 | 78 |
FGA | 78 |
GSN | 78 |
IGHG1 | 78 |
LYZ | 78 |
TTR | 78 |
AMELX | 79 |
Amelogenesis imperfecta | 79 |
DLX3 | 79 |
ENAM | 79 |
FAM83H | 79 |
KLK4 | 79 |
MMP20 | 79 |
Aicardi-Goutieres syndrome | 80 |
RNASEH2A | 80 |
RNASEH2B | 80 |
RNASEH2C | 80 |
SAMHD1 | 80 |
TREX1 | 80 |