×
Entrez Id:
9997
Gene Symbol:
SCO2
SCO2
MYOPIA 6 (disorder)
0.700
CausalMutation
CLINVAR
×
Entrez Id:
9997
Gene Symbol:
SCO2
SCO2
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.700
CausalMutation
CLINVAR
×
Entrez Id:
9997
Gene Symbol:
SCO2
SCO2
Seizures
0.100
CausalMutation
CLINVAR
×
Entrez Id:
9997
Gene Symbol:
SCO2
SCO2
Severe global developmental delay
0.100
CausalMutation
CLINVAR
×
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
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
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
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
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
21933806
2011
×
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
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
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
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
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
Cardiomyopathy, Dilated
0.100
GeneticVariation
CLINVAR
A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy.
20159436
2010
×
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