Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.600 GeneticVariation CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549

2018
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.600 CausalMutation CLINVAR Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature. 28870638

2017
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.600 CausalMutation CLINVAR Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 28332779

2017
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.600 GeneticVariation CLINVAR Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 28332779

2017
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.600 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
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.600 GeneticVariation CLINVAR Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. 25914204

2015
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.600 CausalMutation CLINVAR Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. 25914204

2015
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.600 GeneticVariation CLINVAR Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). 22486404

2013
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.600 CausalMutation CLINVAR Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). 22486404

2013
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.600 GeneticVariation CLINVAR Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. 21473986

2011