PRKD1, protein kinase D1, 5587

N. diseases: 171; N. variants: 19
Disease: Contiguous gene syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		0.010 GeneticVariation disease BEFREE Our results confirm that patients with both TSC and PKD have a genetically contiguous gene syndrome with hemizygous deletion of the TSC2 and PKD1 genes. 17185137 2007