Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999

Entrez Id: 9997
Gene Symbol: SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. 10852545

2000

Entrez Id: 9997
Gene Symbol: SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100 CausalMutation CLINVAR Phenotypic variability in a Spanish family with MNGIE. 12177387

2002

Entrez Id: 9997
Gene Symbol: SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100 CausalMutation CLINVAR Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients. 12529715

2003

Entrez Id: 9997
Gene Symbol: SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. 14720311

2004

Entrez Id: 9997
Gene Symbol: SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. 15781193

2005

Entrez Id: 9997
Gene Symbol: SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100 CausalMutation CLINVAR Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE. 16198108

2005

Entrez Id: 9997
Gene Symbol: SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100 CausalMutation CLINVAR Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. 17437622

2007

Entrez Id: 9997
Gene Symbol: SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100 GeneticVariation CLINVAR Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 19056268

2009

Entrez Id: 9997
Gene Symbol: SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100 CausalMutation CLINVAR Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 19056268

2009

Entrez Id: 9997
Gene Symbol: SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100 CausalMutation CLINVAR Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). 19748572

2009

Entrez Id: 9997
Gene Symbol: SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011