PRKD1, protein kinase D1, 5587

N. diseases: 171; N. variants: 19
Disease: Ciliopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.030 Biomarker disease BEFREE Primary cilia have been considered central to PKD pathogenesis due to protein localization and common cystic phenotypes in syndromic ciliopathies, but their relevance is questioned in the simple PKDs. 31427367 2019
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.030 Biomarker disease BEFREE Based on the hypothesis that PKD is one of several diseases characterized as ciliopathies, this abnormal variability in the length of the primary cilia may have functional implications. 18997107 2009
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.030 AlteredExpression disease BEFREE NPH and associated disorders are considered as ciliopathies, as all NPHP gene products are expressed in the primary cilia, similarly to the polycystic kidney disease (PKD) proteins. 18607645 2009