Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 Biomarker disease CTD_human
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.400 Biomarker disease CTD_human
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.400 CausalMutation disease CLINVAR
Entrez Id: 4566
Gene Symbol: TRNK
TRNK 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 CausalMutation disease CLINVAR A second MNGIE patient without typical mitochondrial skeletal muscle involvement. 20232099 2010
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 Biomarker disease GENOMICS_ENGLAND An atlas of genetic influences on human blood metabolites. 24816252 2014
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 CausalMutation disease CLINVAR Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome. 20151198 2010
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 CausalMutation disease CLINVAR Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 19056268 2009
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 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 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 Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 19056268 2009
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 CausalMutation disease CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806 2011
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.100 CausalMutation disease CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806 2011
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 CausalMutation disease CLINVAR Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation. 15742109 2005
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 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 Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. 17437622 2007
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 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 Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). 19748572 2009
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 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 Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients. 12529715 2003
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 CausalMutation disease CLINVAR Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction. 19344718 2009
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 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