rs200649783
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
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
rs200649783
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
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
rs200649783
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
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
rs200649783
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
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
rs200649783
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
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
rs267607174
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
0.800
GeneticVariation
UNIPROT
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
20817137
2010
rs267607174
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
C
0.800
CausalMutation
CLINVAR
rs267607175
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
0.800
GeneticVariation
UNIPROT
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
20817137
2010
rs267607175
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
T
0.800
CausalMutation
CLINVAR
rs431905505
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
0.800
GeneticVariation
UNIPROT
rs431905505
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
G
0.800
CausalMutation
CLINVAR
rs200140363
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
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
rs200140363
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
Congenital anomaly of brain
T
0.710
GeneticVariation
CLINVAR
rs1050086118
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
Short Rib-Polydactyly Syndrome
A
0.700
GeneticVariation
CLINVAR
rs1050086118
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
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
rs113386058
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
Waist-Hip Ratio
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs1327489348
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
TC
0.700
CausalMutation
CLINVAR
rs1327489348
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
TC
0.700
CausalMutation
CLINVAR
rs1381817
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
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
rs1553313859
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
A
0.700
CausalMutation
CLINVAR
rs1553316926
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
Jeune thoracic dystrophy
A
0.700
CausalMutation
CLINVAR
rs1553317813
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
G
0.700
GeneticVariation
CLINVAR
rs1553317813
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
G
0.700
GeneticVariation
CLINVAR
rs1553324519
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
T
0.700
CausalMutation
CLINVAR
rs1558342399
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
Short Rib-Polydactyly Syndrome
T
0.700
GeneticVariation
CLINVAR