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: rs79436363
rs79436363
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280598
Disease:
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		A 0.700 CausalMutation CLINVAR Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports. 28621010 2017
dbSNP: rs79436363
rs79436363
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280598
Disease:
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		A 0.700 CausalMutation CLINVAR Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. 27596865 2016
dbSNP: rs79436363
rs79436363
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280598
Disease:
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		A 0.700 CausalMutation CLINVAR Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. 25726036 2015
dbSNP: rs79436363
rs79436363
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280598
Disease:
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		A 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013