WDR19, WD repeat domain 19, 57728

N. diseases: 143; N. variants: 31
Disease: SENIOR-LOKEN SYNDROME 8 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.600 CausalMutation disease CLINVAR Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports. 28621010 2017
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.600 CausalMutation disease CLINVAR Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. 27596865 2016
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.600 CausalMutation disease CLINVAR Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. 25726036 2015
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.600 CausalMutation disease CLINVAR WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. 23683095 2013
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.600 GeneticVariation disease UNIPROT Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.600 GeneticVariation disease CLINVAR WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. 23683095 2013
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.600 CausalMutation disease CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.600 GeneticVariation disease CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.600 GeneticVariation disease UNIPROT WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. 23683095 2013
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.600 GeneticVariation disease CLINVAR Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 22019273 2011
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.600 Biomarker disease GENOMICS_ENGLAND