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: rs200140363
rs200140363
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C0432235
Disease:
CRANIOECTODERMAL DYSPLASIA 1 		0.010 GeneticVariation BEFREE We describe a patient severely affected with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia (CED) ciliopathy, who unusually carries several homozygosity tracts involving homozygous missense mutations in SPAG17 (exon 8; c.1069G > C; p.Asp357His) and WDR35 (exon 13; c.1415G > A; p.Arg472Gln) as revealed by homozygosity mapping and next generation sequencing. 29174089 2018
dbSNP: rs200140363
rs200140363
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4551571
Disease:
Cranioectodermal dysplasia 		0.010 GeneticVariation BEFREE We describe a patient severely affected with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia (CED) ciliopathy, who unusually carries several homozygosity tracts involving homozygous missense mutations in SPAG17 (exon 8; c.1069G > C; p.Asp357His) and WDR35 (exon 13; c.1415G > A; p.Arg472Gln) as revealed by homozygosity mapping and next generation sequencing. 29174089 2018
dbSNP: rs113386058
rs113386058
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: 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: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		T 0.700 GeneticVariation CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549 2018
dbSNP: rs1050086118
rs1050086118
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		A 0.700 CausalMutation CLINVAR Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 28400947 2017
dbSNP: rs1558342399
rs1558342399
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		T 0.700 GeneticVariation CLINVAR Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 28400947 2017
dbSNP: rs199952377
rs199952377
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4551571
Disease:
Cranioectodermal dysplasia 		C 0.700 GeneticVariation CLINVAR Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 28332779 2017
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: 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 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: 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: 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: 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