WDR19, WD repeat domain 19, 57728

N. diseases: 143; N. variants: 31
Disease: Ciliopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.550 GeneticVariation disease BEFREE Mutations in the genes encoding the six subunits of the IFT-A complex (IFT43, IFT121, IFT122, IFT139, IFT140, and IFT144) are known to cause skeletal ciliopathies, including cranioectodermal dysplasia (CED). 29220510 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.550 Biomarker disease BEFREE WDR19 has been reported as a causative gene of nephronophthisis-related ciliopathies. 28621010 2017
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.550 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: C4277690
Disease: Ciliopathies
Ciliopathies 		0.550 GeneticVariation disease BEFREE We hypothesized that more severe WDR19 mutations may lead to severe ciliopathies and found seven WDR19 mutations in five SLS families. 23683095 2013
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.550 GeneticVariation disease BEFREE Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 22019273 2011
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.550 Biomarker disease GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.550 Biomarker disease MGD