WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886044119
rs886044119
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C0036996
Disease:
Short Rib-Polydactyly Syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs886044119
rs886044119
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4694035
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY 		T 0.700 CausalMutation CLINVAR
dbSNP: rs776631281
rs776631281
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C0265275
Disease:
Jeune thoracic dystrophy 		C 0.700 CausalMutation CLINVAR
dbSNP: rs767751856
rs767751856
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs767751856
rs767751856
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs765513105
rs765513105
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs765513105
rs765513105
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		T 0.700 CausalMutation CLINVAR Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature. 28870638 2017
dbSNP: rs746128772
rs746128772
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: rs746128772
rs746128772
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		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: rs541910371
rs541910371
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs431905505
rs431905505
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.800 GeneticVariation UNIPROT
dbSNP: rs431905505
rs431905505
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		G 0.800 CausalMutation CLINVAR
dbSNP: rs397515536
rs397515536
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4551571
Disease:
Cranioectodermal dysplasia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397515535
rs397515535
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4551571
Disease:
Cranioectodermal dysplasia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs397515534
rs397515534
Entrez Id: 57539;101928222
Gene Symbol: WDR35;LOC101928222
WDR35;LOC101928222
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs397515534
rs397515534
Entrez Id: 57539;101928222
Gene Symbol: WDR35;LOC101928222
WDR35;LOC101928222
CUI: C4551571
Disease:
Cranioectodermal dysplasia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs397515533
rs397515533
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		G 0.700 CausalMutation CLINVAR
dbSNP: rs397515533
rs397515533
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4551571
Disease:
Cranioectodermal dysplasia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs397515334
rs397515334
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs397515334
rs397515334
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4551571
Disease:
Cranioectodermal dysplasia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387907085
rs387907085
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs3731663
rs3731663
Entrez Id: 57539;101928222
Gene Symbol: WDR35;LOC101928222
WDR35;LOC101928222
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936. 31320639 2019
dbSNP: rs371669862
rs371669862
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		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: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		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: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		T 0.700 GeneticVariation CLINVAR Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. 25914204 2015