WDR19, WD repeat domain 19, 57728

N. diseases: 143; N. variants: 31
Disease: Nephronophthisis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 GeneticVariation disease BEFREE Our patients suggest that WDR19 mutations can cause dysplastic kidney in addition to nephronophthisis pathologically. 28621010 2017
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 GeneticVariation disease BEFREE Mutations in WDR19 encoding the intraflagellar transport component IFT144 have recently been described in single families with the clinically overlapping skeletal ciliopathies Jeune and Sensenbrenner syndromes, combined or isolated nephronophthisis (NPHP) and retinitis pigmentosa (RP) (Senior-Loken syndrome). 24504730 2014
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 GeneticVariation disease BEFREE Independently, we also identified compound heterozygous WDR19 mutations by exome sequencing in a Moroccan family with isolated nephronophthisis. 22019273 2011
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 Biomarker disease GENOMICS_ENGLAND
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 CausalMutation disease CLINVAR
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 Biomarker disease HPO