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: 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: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		C 0.700 CausalMutation CLINVAR Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. 25914204 2015
dbSNP: rs199952377
rs199952377
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		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: 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: 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: rs199952377
rs199952377
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		C 0.700 CausalMutation CLINVAR Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). 22486404 2013
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: 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: 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: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		T 0.700 GeneticVariation CLINVAR Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). 22486404 2013
dbSNP: rs1381817
rs1381817
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C0200635
Disease:
Lymphocyte Count measurement 		0.700 GeneticVariation GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
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: 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
dbSNP: rs1050086118
rs1050086118
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C0036996
Disease:
Short Rib-Polydactyly Syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1327489348
rs1327489348
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		TC 0.700 CausalMutation CLINVAR
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: rs1553316926
rs1553316926
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C0265275
Disease:
Jeune thoracic dystrophy 		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: rs1553317813
rs1553317813
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1553324519
rs1553324519
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		T 0.700 CausalMutation CLINVAR