Orofaciodigital syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Orofaciodigital Syndrome I C1510460 C2CD3 Causal Pathogenic evidence from ClinVar 24997988, 26044959, 27094867 ClinVar
OFD1 Causal Pathogenic evidence from ClinVar 11179005, 11950863, 12595504, 16397067, 18546297, 19800048, 22353940, 23033313, 23036093 ClinVar
Orofaciodigital syndrome type 14 434179 C2CD3 Causal Pathogenic evidence from ClinVar - ClinVar
OROFACIODIGITAL SYNDROME XIV C4014780 C2CD3 Causal Pathogenic evidence from ClinVar 24997988, 26044959, 27094867 ClinVar
Orofaciodigital Syndromes C0029294 C2CD3 Causal Pathogenic evidence from ClinVar 24997988 ClinVar
DDX59 Causal Pathogenic evidence from ClinVar 23972372 ClinVar
OFD1 Causal Pathogenic evidence from ClinVar - ClinVar
TMEM107 Causal Pathogenic evidence from ClinVar 24901346, 26518474 ClinVar
FAM149B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30905400 -
SCLT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24285566 -
Orofaciodigital syndrome type 6 2754 CPLANE1 Causal Pathogenic evidence from ClinVar - ClinVar
OFD1 Causal Pathogenic evidence from ClinVar - ClinVar
TCTN3 Causal Pathogenic evidence from ClinVar - ClinVar
FAM149B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KIAA0753 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KIF7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PDE6D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TMEM216 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
OROFACIODIGITAL SYNDROME VI C2745997 CPLANE1 Causal Pathogenic evidence from ClinVar 22425360, 24091540, 24178751, 25407461, 25846457, 25920555, 26092869, 27081551, 27434533, 28125082, 28289185, 28431631 ClinVar
TCTN3 Causal Pathogenic evidence from ClinVar 22883145 ClinVar
FAM149B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30905400 -
KIAA0753 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26643951 -
KIF7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21633164 -
PDE6D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24166846 -
TMEM216 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20615230 -
Orofaciodigital syndrome 5 C1868118 DDX59 Causal Pathogenic evidence from ClinVar 23972372, 28711741, 29127725, 30914295 ClinVar
Orofaciodigital syndrome type 5 2919 DDX59 Causal Pathogenic evidence from ClinVar - ClinVar
OROFACIODIGITAL SYNDROME XVIII C4693651 IFT57 Causal Pathogenic evidence from ClinVar - ClinVar
Orofaciodigital syndrome type 1 2750 OFD1 Causal Pathogenic evidence from ClinVar - ClinVar
Orofaciodigital syndrome type1 C2931426 OFD1 Causal Pathogenic evidence from ClinVar - ClinVar
Orofaciodigital syndrome 4 C0406727 TCTN3 Causal Pathogenic evidence from ClinVar 22883145, 25118024 ClinVar
Orofaciodigital syndrome type 4 2753 TCTN3 Causal Pathogenic evidence from ClinVar - ClinVar
OROFACIODIGITAL SYNDROME XVI C4539729 TMEM107 Causal Pathogenic evidence from ClinVar 26123494, 26518474, 26595381 ClinVar
OROFACIODIGITAL SYNDROME XVII C4693640 INTU Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
OROFACIODIGITAL SYNDROME XV C4310701 KIAA0753 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26643951, 28220259 -
Oral-facial-digital syndrome, type 2 C2931889 NEK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27530628 -
Orofaciodigital syndrome type 2 2751 NEK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Orofaciodigital syndrome 9 C0796102 TBC1D32 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24285566 -
Orofaciodigital syndrome 3 C0406726 TMEM231 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25869670 -
Orofaciodigital syndrome type 3 2752 TMEM231 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -