Oculodentodigital dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
Oculo-dento-digital syndrome C0812437 GJA1 Causal Pathogenic evidence from ClinVar 1057461, 16378922, 16816024, 21273537, 21670345, 23550541, 24357685, 24508941 ClinVar
PTCH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19032739 -
PTCH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18285427, 23479190 -
SUFU Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19533801, 22829011, 25403219 -
Oculodentodigital dysplasia 2710 GJA1 Causal Pathogenic evidence from ClinVar - ClinVar
Oculodentodigital Dysplasia, Autosomal Recessive C2749477 GJA1 Causal Pathogenic evidence from ClinVar 17901047, 18003637, 18946008, 19338053, 21670345, 23550541, 25388818, 27226478 ClinVar