Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.440 GeneticVariation BEFREE Mutations in SPARTAN are associated with early onset hepatocellular carcinoma and progeroid features. 28053116

2017

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.440 GeneticVariation BEFREE Germline mutations in SPRTN cause Ruijs-Aalfs syndrome (RJALS), a disorder characterized by genome instability, progeria and early onset hepatocellular carcinoma. 28199696

2017

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.440 GeneticVariation BEFREE Cells derived from patients with SPRTN mutations elicit genomic instability and people afflicted with this syndrome developed hepatocellular carcinoma. 27852435

2016

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.440 GeneticVariation BEFREE Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. 25261934

2014