WDR19, WD repeat domain 19, 57728

N. diseases: 143; N. variants: 31
Disease: Caroli Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162510
Disease: Caroli Disease
Caroli Disease 		0.120 GeneticVariation disease CLINVAR
CUI: C0162510
Disease: Caroli Disease
Caroli Disease 		0.120 GeneticVariation disease BEFREE Caroli disease is a major extra-renal phenotype associated with mutations in WDR19 in the Korean population. 25726036 2015
CUI: C0162510
Disease: Caroli Disease
Caroli Disease 		0.120 GeneticVariation disease BEFREE In addition, we present the first case of Caroli disease due to mutations in WDR19/NPHP13 and the second case ever with a recessive mutation in GLIS2/NPHP7. 23559409 2013