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
rs1327489348
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
TC
0.700
CausalMutation
CLINVAR
rs1553313859
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
A
0.700
CausalMutation
CLINVAR
rs1553317813
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
G
0.700
GeneticVariation
CLINVAR
rs199840434
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
A
0.700
CausalMutation
CLINVAR
rs199952377
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
C
0.700
CausalMutation
CLINVAR
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).
22486404
2013
rs199952377
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
C
0.700
CausalMutation
CLINVAR
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
28332779
2017
rs199952377
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
C
0.700
CausalMutation
CLINVAR
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.
25914204
2015
rs200140363
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
T
0.700
GeneticVariation
CLINVAR
rs371669862
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
T
0.700
GeneticVariation
CLINVAR
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
28332779
2017
rs371669862
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
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
rs371669862
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
T
0.700
GeneticVariation
CLINVAR
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.
25914204
2015
rs371669862
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
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
rs371669862
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
T
0.700
GeneticVariation
CLINVAR
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
29068549
2018
rs371669862
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
T
0.700
GeneticVariation
CLINVAR
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).
22486404
2013
rs397515334
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
A
0.700
CausalMutation
CLINVAR
rs397515533
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
G
0.700
CausalMutation
CLINVAR
rs397515534
WDR35;LOC101928222
CRANIOECTODERMAL DYSPLASIA 2
C
0.700
CausalMutation
CLINVAR
rs541910371
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
C
0.700
CausalMutation
CLINVAR
rs746128772
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
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
rs765513105
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
CRANIOECTODERMAL DYSPLASIA 2
T
0.700
GeneticVariation
CLINVAR
rs765513105
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
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