Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.100 CausalMutation disease CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806 2011
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.100 GeneticVariation disease CLINVAR Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 19056268 2009
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.100 CausalMutation disease CLINVAR Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). 19748572 2009
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.100 CausalMutation disease CLINVAR Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 19056268 2009
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.100 CausalMutation disease 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
0.100 CausalMutation disease CLINVAR Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. 15781193 2005
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.100 CausalMutation disease 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
0.100 CausalMutation disease CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. 14720311 2004
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.100 CausalMutation disease CLINVAR Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients. 12529715 2003
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.100 CausalMutation disease CLINVAR Phenotypic variability in a Spanish family with MNGIE. 12177387 2002
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.100 CausalMutation disease CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. 10852545 2000
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.100 CausalMutation disease CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029 1999