rs199952377, WDR35

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cranioectodermal dysplasia
CUI: C4551571
Disease: Cranioectodermal dysplasia
0.700 GeneticVariation CLINVAR Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 28332779 2017
CRANIOECTODERMAL DYSPLASIA 2
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
0.700 CausalMutation CLINVAR Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 28332779 2017
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
0.700 CausalMutation CLINVAR Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 28332779 2017
Cranioectodermal dysplasia
CUI: C4551571
Disease: Cranioectodermal dysplasia
0.700 GeneticVariation CLINVAR Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. 25914204 2015
CRANIOECTODERMAL DYSPLASIA 2
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
0.700 CausalMutation CLINVAR Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. 25914204 2015
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
0.700 CausalMutation CLINVAR Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. 25914204 2015
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
0.700 CausalMutation CLINVAR Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). 22486404 2013
CRANIOECTODERMAL DYSPLASIA 2
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
0.700 CausalMutation CLINVAR Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). 22486404 2013
Cranioectodermal dysplasia
CUI: C4551571
Disease: Cranioectodermal dysplasia
0.700 GeneticVariation CLINVAR Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). 22486404 2013
Cranioectodermal dysplasia
CUI: C4551571
Disease: Cranioectodermal dysplasia
0.700 CausalMutation CLINVAR
Jeune thoracic dystrophy
CUI: C0265275
Disease: Jeune thoracic dystrophy
0.700 CausalMutation CLINVAR