WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371669862
rs371669862
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		T 0.700 GeneticVariation CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549 2018
dbSNP: rs371669862
rs371669862
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		T 0.700 GeneticVariation CLINVAR Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 28332779 2017
dbSNP: rs371669862
rs371669862
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		T 0.700 GeneticVariation CLINVAR Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. 25914204 2015
dbSNP: rs371669862
rs371669862
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		T 0.700 GeneticVariation CLINVAR Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. 25908617 2015
dbSNP: rs371669862
rs371669862
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		T 0.700 GeneticVariation CLINVAR Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). 22486404 2013
dbSNP: rs371669862
rs371669862
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		T 0.700 GeneticVariation CLINVAR Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. 21473986 2011