PRKD1, protein kinase D1, 5587

N. diseases: 171; N. variants: 19
Disease: Congenital cystic kidney disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		0.020 Biomarker disease BEFREE Here, we describe two pedigrees without a history of cystic kidney disease that each contain two patients with onset of massive PKD in utero. 20558538 2010
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		0.020 Biomarker disease BEFREE These variants are unlikely to account for PKD in these patients, yet the screening of other affected populations may provide information about the involvement of PKDR1 as a modifier gene in cystic kidney disease. 18434273 2008