WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
Disease: Cranioectodermal dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199952377
rs199952377
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4551571
Disease:
Cranioectodermal dysplasia 		C 0.700 GeneticVariation CLINVAR Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 28332779 2017
dbSNP: rs199952377
rs199952377
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4551571
Disease:
Cranioectodermal dysplasia 		C 0.700 GeneticVariation CLINVAR Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. 25914204 2015
dbSNP: rs199952377
rs199952377
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4551571
Disease:
Cranioectodermal dysplasia 		C 0.700 GeneticVariation CLINVAR Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). 22486404 2013
dbSNP: rs199952377
rs199952377
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4551571
Disease:
Cranioectodermal dysplasia 		C 0.700 CausalMutation CLINVAR