Orofaciodigital syndrome

Disease Term Disease ID Gene Symbol Classification References Source
ORO-FACIAL DIGITAL SYNDROME TYPE 14 C4706604 C2CD3 Causal Pathogenic evidence from ClinVar - ClinVar
OROFACIODIGITAL SYNDROME TYPE 14 C2CD3 Causal Pathogenic evidence from ClinVar 19004860, 24997988, 25053433, 26092869, 26477546, 27094867, 30097616 ClinVar
OROFACIODIGITAL SYNDROME XIV C2CD3 Causal Pathogenic evidence from ClinVar - ClinVar
OROFACIODIGITAL SYNDROMES C0029294, MESH:D009958, C0029294 C2CD3 Causal Pathogenic evidence from ClinVar 24997988 ClinVar
OFD1 Causal Pathogenic evidence from ClinVar - ClinVar
TMEM107 Causal Pathogenic evidence from ClinVar - ClinVar
WDPCP Causal Pathogenic evidence from ClinVar - ClinVar
CFAP184 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 - -
RAB18 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
OROFACIODIGITAL SYNDROME 6 MESH:C536531 CPLANE1 Causal Pathogenic evidence from ClinVar - ClinVar
OROFACIODIGITAL SYNDROME TYPE 6 CPLANE1 Causal Pathogenic evidence from ClinVar 24178751, 25407461 ClinVar
OFD1 Causal Pathogenic evidence from ClinVar 20301500 ClinVar
TCTN3 Causal Pathogenic evidence from ClinVar 20301500, 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 20301500, 21633164 -
PDE6D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24166846 -
OROFACIODIGITAL SYNDROME VI , C2745997 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 - -
OROFACIODIGITAL SYNDROME 5 C1868118, MESH:C557819 DDX59 Causal Pathogenic evidence from ClinVar - ClinVar
OROFACIODIGITAL SYNDROME TYPE 5 2919 DDX59 Causal Pathogenic evidence from ClinVar 23972372 ClinVar
OROFACIODIGITAL SYNDROME V DDX59 Causal Pathogenic evidence from ClinVar 202638, 23972372, 282862, 28289185, 28454995, 28711741, 29127725, 5620213 ClinVar
OROFACIODIGITAL SYNDROME 18 MONDO:0054770 IFT57 Causal Pathogenic evidence from ClinVar 26655555, 27060890, 28289185 ClinVar
OROFACIODIGITAL SYNDROME TYPE 18 508501 IFT57 Causal Pathogenic evidence from ClinVar 27060890 ClinVar
OROFACIODIGITAL SYNDROME XVIII 617927 IFT57 Causal Pathogenic evidence from ClinVar - ClinVar
OROFACIODIGITAL SYNDROME 3 C0406726 OFD1 Causal Pathogenic evidence from ClinVar - ClinVar
CELSR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IFT140 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
OROFACIODIGITAL SYNDROME I OFD1 Causal Pathogenic evidence from ClinVar 9198060, 11950863, 11179005, 15221448, 9482645 ClinVar
OROFACIODIGITAL SYNDROME TYPE 1 2750, MESH:C537134 OFD1 Causal Pathogenic evidence from ClinVar 20301367 ClinVar
OROFACIAL-DIGITAL SYNDROME IV TCTN3 Causal Pathogenic evidence from ClinVar - ClinVar
OROFACIODIGITAL SYNDROME 4 C0406727, MESH:C537133 TCTN3 Causal Pathogenic evidence from ClinVar - ClinVar
OROFACIODIGITAL SYNDROME IV TCTN3 Causal Pathogenic evidence from ClinVar 22883145 ClinVar
OROFACIODIGITAL SYNDROME TYPE 4 2753 TCTN3 Causal Pathogenic evidence from ClinVar 22883145 ClinVar
OROFACIODIGITAL SYNDROME 16 MONDO:0033045 TMEM107 Causal Pathogenic evidence from ClinVar 249013446, 26518474, 28289185 ClinVar
OROFACIODIGITAL SYNDROME XVI TMEM107 Causal Pathogenic evidence from ClinVar - ClinVar
OROFACIODIGITAL SYNDROME 17 MONDO:0033375 INTU Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
OROFACIODIGITAL SYNDROME XVII INTU Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
OROFACIODIGITAL SYNDROME XV KIAA0753 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
OROFACIODIGITAL SYNDROME II 252100 NEK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
OROFACIODIGITAL SYNDROME TYPE 2 2751 NEK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27530628 -
OROFACIODIGITAL SYNDROME TYPE II MONDO:0009642 NEK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27530628 -
OROFACIODIGITAL SYNDROME 20 MONDO:0958230 RAB34 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 37384395, 37619988 -