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: rs200649783
rs200649783
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.800 GeneticVariation UNIPROT Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. 21473986 2011
dbSNP: rs200649783
rs200649783
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.800 GeneticVariation UNIPROT The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. 27158779 2016
dbSNP: rs200649783
rs200649783
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.800 GeneticVariation UNIPROT Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 28400947 2017
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: 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: 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: 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: 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: 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: rs200649783
rs200649783
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		A 0.800 GeneticVariation CLINVAR The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. 27158779 2016
dbSNP: rs200649783
rs200649783
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3279792
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		A 0.800 GeneticVariation CLINVAR Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 28400947 2017
dbSNP: rs1050086118
rs1050086118
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C0036996
Disease:
Short Rib-Polydactyly Syndrome 		A 0.700 GeneticVariation CLINVAR
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: 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: rs199840434
rs199840434
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs199840434
rs199840434
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: rs200649783
rs200649783
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C0265275
Disease:
Jeune thoracic dystrophy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs200649783
rs200649783
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4747658
Disease:
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC 		A 0.700 CausalMutation CLINVAR
dbSNP: rs200649783
rs200649783
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C0036996
Disease:
Short Rib-Polydactyly Syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200649783
rs200649783
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C4694035
Disease:
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY 		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: rs397515334
rs397515334
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease:
CRANIOECTODERMAL DYSPLASIA 2 		A 0.700 CausalMutation CLINVAR