WDR19, WD repeat domain 19, 57728

N. diseases: 143; N. variants: 31
Disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs780847651
rs780847651
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280598
Disease:
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		C 0.700 GeneticVariation CLINVAR WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. 23683095 2013
dbSNP: rs780847651
rs780847651
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280598
Disease:
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		C 0.700 GeneticVariation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013
dbSNP: rs780847651
rs780847651
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280598
Disease:
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		C 0.700 GeneticVariation CLINVAR Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 22019273 2011