PRKD1, protein kinase D1, 5587

N. diseases: 171; N. variants: 19
Disease: Tuberous Sclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.030 GeneticVariation disease BEFREE Although extremely rare, TSC and autosomal dominant polycystic kidney disease (ADPKD) can co-exist in the same patient as a result of concurrent deletion of both polycystic kidney disease (PKD) 1 and TSC2 genes present on the chromosome 16p13.3. 25519866 2014
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.030 Biomarker 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
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.030 Biomarker disease BEFREE Two unrelated families in which TSC and PKD co-segregate were investigate. 9306341 1997