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: rs200649783
rs200649783
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		A 0.800 GeneticVariation CLINVAR Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 28400947 2017
dbSNP: rs200649783
rs200649783
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.800 GeneticVariation UNIPROT Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 28400947 2017
dbSNP: rs200649783
rs200649783
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		A 0.800 GeneticVariation CLINVAR The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. 27158779 2016
dbSNP: rs200649783
rs200649783
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.800 GeneticVariation UNIPROT The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. 27158779 2016
dbSNP: rs200649783
rs200649783
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.800 GeneticVariation UNIPROT Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. 21473986 2011