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 CausalMutation disease CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029 1999
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 CausalMutation disease CLINVAR MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation. 14757860 2004
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 CausalMutation disease CLINVAR Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE. 15505189 2004
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 CausalMutation disease CLINVAR MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation. 23430799 2013
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.700 CausalMutation disease CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene. 18280229 2008
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 A second MNGIE patient without typical mitochondrial skeletal muscle involvement. 20232099 2010
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
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: 5428
Gene Symbol: POLG
POLG 		0.400 CausalMutation disease CLINVAR
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 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 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 Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029 1999
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.100 CausalMutation disease CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806 2011
Entrez Id: 4566
Gene Symbol: TRNK
TRNK 		0.100 CausalMutation disease CLINVAR
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: an autosomal recessive disorder due to thymidine phosphorylase mutations. 10852545 2000
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 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. 14720311 2004
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 Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients. 12529715 2003