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: C4021790
Disease:
Abnormality of the skeletal system 		T 0.700 GeneticVariation 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: rs200140363
rs200140363
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C0266449
Disease:
Congenital anomaly of brain 		0.710 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: C0266449
Disease:
Congenital anomaly of brain 		T 0.710 GeneticVariation CLINVAR
dbSNP: rs199952377
rs199952377
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4551571
Disease:
Cranioectodermal dysplasia 		C 0.700 CausalMutation CLINVAR
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: 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: C4551571
Disease:
Cranioectodermal dysplasia 		C 0.700 GeneticVariation CLINVAR Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). 22486404 2013
dbSNP: rs267607174
rs267607174
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4551571
Disease:
Cranioectodermal dysplasia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs267607175
rs267607175
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4551571
Disease:
Cranioectodermal dysplasia 		T 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: rs397515533
rs397515533
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4551571
Disease:
Cranioectodermal dysplasia 		G 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: rs397515535
rs397515535
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4551571
Disease:
Cranioectodermal dysplasia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs397515536
rs397515536
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4551571
Disease:
Cranioectodermal dysplasia 		T 0.700 CausalMutation CLINVAR
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: 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: 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: 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 		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 		T 0.800 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: 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