Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C4015461
Disease: RUIJS-AALFS SYNDROME
RUIJS-AALFS SYNDROME
0.730 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: C4015461
Disease: RUIJS-AALFS SYNDROME
RUIJS-AALFS SYNDROME
0.730 Biomarker BEFREE Defective SPRTN-dependent clearance of DPCs is the molecular mechanism underlying RJALS, and DPCs are contributing to accelerated aging and cancer. 27871366

2016

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C4015461
Disease: RUIJS-AALFS SYNDROME
RUIJS-AALFS SYNDROME
0.730 Biomarker BEFREE Collectively, SPRTN is a mammalian protease required for resolving DNA-protein crosslinks in vivo whose function is compromised in Ruijs-Aalfs syndrome patients. 27852435

2016

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

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome
0.310 GeneticVariation BEFREE A new study identifies rare mutations in SPRTN that cause a novel progeroid syndrome. 25352099

2014

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.040 Biomarker BEFREE Lasmiditan demonstrated superiority to placebo in the acute treatment of migraine in adults with moderate/severe migraine disability in two similarly designed Phase 3 trials, SAMURAI and SPARTAN. 31744319

2020

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.040 Biomarker BEFREE SAMURAI and SPARTAN were double-blind, placebo-controlled Phase 3 studies in which individuals with migraine were randomized to oral lasmiditan 50 mg (SPARTAN only), 100 mg, 200 mg, or placebo. 31409292

2019

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.040 Biomarker BEFREE Individuals with migraine were randomized to receive oral lasmiditan 50 mg (SPARTAN only), 100 mg, 200 mg, or placebo within 4 hours of onset of a migraine attack. 31152441

2019

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.040 Biomarker BEFREE Patients were randomized to treat a migraine attack with oral lasmiditan 50 mg (SPARTAN only), 100 mg, 200 mg, or placebo. 31340760

2019

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome
0.030 Biomarker BEFREE Cells deficient in SPRTN protease exhibit DPC-induced replication stress and genome instability, manifesting as premature ageing and liver cancer. 31316063

2019

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome
0.030 GeneticVariation BEFREE Mutations in SPRTN cause premature ageing and liver cancer in humans and mice; thus, defective DPC repair has great clinical ramifications. 30170832

2018

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome
0.030 Biomarker BEFREE The results point to an unexpected function of SPRTN and bring insight to the mechanisms that link premature aging and cancer. 25352099

2014

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 Biomarker BEFREE The SPARTAN trial showed that metastasis-free survival (MFS) for patients treated with apalutamide plus ADT is 40.5 months compared to 16.2 months for patients who received standard ADT plus placebo, a 72% reduction in the risk of distant metastasis or death in apalutamide plus ADT compared to ADT plus placebo. 30115959

2019

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.020 Biomarker BEFREE Cells deficient in SPRTN protease exhibit DPC-induced replication stress and genome instability, manifesting as premature ageing and liver cancer. 31316063

2019

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
Liver and Intrahepatic Biliary Tract Carcinoma
0.020 Biomarker BEFREE Cells deficient in SPRTN protease exhibit DPC-induced replication stress and genome instability, manifesting as premature ageing and liver cancer. 31316063

2019

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
0.020 Biomarker BEFREE Cells deficient in SPRTN protease exhibit DPC-induced replication stress and genome instability, manifesting as premature ageing and liver cancer. 31316063

2019

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
0.020 Biomarker BEFREE The SPARTAN trial evaluated 1207 patients with nonmetastatic castration-resistant prostate cancer who were randomized 2:1 to apalutamide or placebo in combination with androgen deprivation therapy. 31359832

2019

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 GeneticVariation BEFREE In the SPARTAN trial, addition of apalutamide to androgen deprivation therapy, as compared with placebo plus androgen deprivation therapy, significantly improved metastasis-free survival in men with non-metastatic castration-resistant prostate cancer who were at high risk for development of metastases. 30213449

2018

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.020 GeneticVariation BEFREE Mutations in SPRTN cause premature ageing and liver cancer in humans and mice; thus, defective DPC repair has great clinical ramifications. 30170832

2018

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
Liver and Intrahepatic Biliary Tract Carcinoma
0.020 GeneticVariation BEFREE Mutations in SPRTN cause premature ageing and liver cancer in humans and mice; thus, defective DPC repair has great clinical ramifications. 30170832

2018

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
0.020 GeneticVariation BEFREE Mutations in SPRTN cause premature ageing and liver cancer in humans and mice; thus, defective DPC repair has great clinical ramifications. 30170832

2018

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
0.020 Biomarker BEFREE This has recently changed after reporting of results from the SPARTAN and PROSPER trials, which were conducted in nonmetastatic CRPC (nmCRPC) patients. 30536163

2018