PRKD1, protein kinase D1, 5587

N. diseases: 171; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases
0.030 Biomarker group 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: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases
0.030 Biomarker group 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
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases
0.030 Biomarker group BEFREE The polymorphisms found in the htG737 gene will permit its future evaluation as a candidate gene for other recessive cystic renal diseases and as a modifier gene in human PKD. 8597639 1995