Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5587
Gene Symbol: PRKD1
PRKD1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.030 GeneticVariation 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
Entrez Id: 5587
Gene Symbol: PRKD1
PRKD1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.030 Biomarker 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
Entrez Id: 5587
Gene Symbol: PRKD1
PRKD1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.030 Biomarker BEFREE Two unrelated families in which TSC and PKD co-segregate were investigate. 9306341

1997