GLIS2, GLIS family zinc finger 2, 84662

N. diseases: 67; N. variants: 2
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 		0.010 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