Cranioectodermal dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
Cranioectodermal dysplasia 1515, C4551571 IFT122 Causal Pathogenic evidence from ClinVar - ClinVar
IFT43 Causal Pathogenic evidence from ClinVar - ClinVar
WDR19 Causal Pathogenic evidence from ClinVar - ClinVar
WDR35 Causal Pathogenic evidence from ClinVar 22486404, 25914204, 28332779 ClinVar
IFT140 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IFT52 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CRANIOECTODERMAL DYSPLASIA 1 C0432235 IFT122 Causal Pathogenic evidence from ClinVar 19000668, 20493458, 21438135, 22791528, 23826986, 24689072, 26792575, 29220510 ClinVar
IFT43 Causal Pathogenic evidence from ClinVar 22791528, 26892345, 29896747 ClinVar
WDR19 Causal Pathogenic evidence from ClinVar 22791528 ClinVar
WDR35 Causal Pathogenic evidence from ClinVar 21438135, 22791528 ClinVar
IFT52 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26880018, 27466190 -
CRANIOECTODERMAL DYSPLASIA 3 C3279807 IFT43 Causal Pathogenic evidence from ClinVar 21378380, 22791528, 26892345, 29896747 ClinVar
CRANIOECTODERMAL DYSPLASIA 2 C3150874 SPAG17 Causal Pathogenic evidence from ClinVar - ClinVar
WDR35 Causal Pathogenic evidence from ClinVar 20817137, 21473986, 22486404, 24123776, 25908617, 25914204, 28332779, 28870638, 29068549 ClinVar
CRANIOECTODERMAL DYSPLASIA 4 C3280616 WDR19 Causal Pathogenic evidence from ClinVar 19430947, 22019273, 24504730 ClinVar