WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
Disease: CRANIOECTODERMAL DYSPLASIA 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607174
rs267607174
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		0.800 GeneticVariation UNIPROT Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. 20817137 2010
dbSNP: rs267607175
rs267607175
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		0.800 GeneticVariation UNIPROT Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. 20817137 2010
dbSNP: rs267607174
rs267607174
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs267607175
rs267607175
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs371669862
rs371669862
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		T 0.700 GeneticVariation CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549 2018
dbSNP: rs199952377
rs199952377
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		C 0.700 CausalMutation 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 Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 28332779 2017
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: rs199952377
rs199952377
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		C 0.700 CausalMutation CLINVAR Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. 25914204 2015
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
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: rs199952377
rs199952377
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		C 0.700 CausalMutation CLINVAR Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). 22486404 2013
dbSNP: rs371669862
rs371669862
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		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: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		T 0.700 GeneticVariation CLINVAR Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. 21473986 2011
dbSNP: rs1327489348
rs1327489348
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs1553313859
rs1553313859
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553317813
rs1553317813
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs199840434
rs199840434
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs200140363
rs200140363
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs397515334
rs397515334
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		A 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: rs397515534
rs397515534
Entrez Id: 57539;101928222
Gene Symbol: WDR35;LOC101928222
WDR35;LOC101928222
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs541910371
rs541910371
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		C 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