DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Mitochondrial DNA Depletion Syndrome 1 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

Mitochondrial DNA Depletion Syndrome 1

0.400

GeneticVariation

CLINVAR

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

Mitochondrial DNA Depletion Syndrome 1

0.400

CausalMutation

CLINVAR

Entrez Id:	9997
Gene Symbol:	SCO2

SCO2

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

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

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

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

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

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

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

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

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

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

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

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

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

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

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

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

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

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

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

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

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

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

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

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:	4566
Gene Symbol:	TRNK

TRNK

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

Mitochondrial DNA Depletion Syndrome 1

0.100

CausalMutation

CLINVAR

Entrez Id:	1890
Gene Symbol:	TYMP

TYMP

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

Mitochondrial DNA Depletion Syndrome 1

0.700

CausalMutation

CLINVAR

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

19748572

2009

Entrez Id:	1890
Gene Symbol:	TYMP

TYMP

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

Mitochondrial DNA Depletion Syndrome 1

0.700

CausalMutation

CLINVAR

Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.

15781193

2005

Entrez Id:	1890
Gene Symbol:	TYMP

TYMP

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

Mitochondrial DNA Depletion Syndrome 1

0.700

CausalMutation

CLINVAR

MNGIE: diarrhea and leukoencephalopathy.

12084896

2002

Entrez Id:	1890
Gene Symbol:	TYMP

TYMP

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

Mitochondrial DNA Depletion Syndrome 1

0.700

CausalMutation

CLINVAR

Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.

16178026

2005

Entrez Id:	1890
Gene Symbol:	TYMP

TYMP

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

Mitochondrial DNA Depletion Syndrome 1

0.700

CausalMutation

CLINVAR

Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

19056268

2009

Entrez Id:	1890
Gene Symbol:	TYMP

TYMP

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

Mitochondrial DNA Depletion Syndrome 1

0.700

CausalMutation

CLINVAR

Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.

12529715

2003

Entrez Id:	1890
Gene Symbol:	TYMP

TYMP

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

Mitochondrial DNA Depletion Syndrome 1

0.700

CausalMutation

CLINVAR

Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.

23341816

2012

Entrez Id:	1890
Gene Symbol:	TYMP

TYMP

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

Mitochondrial DNA Depletion Syndrome 1

0.700

CausalMutation

CLINVAR

Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction.

19344718

2009

Entrez Id:	1890
Gene Symbol:	TYMP

TYMP

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

Mitochondrial DNA Depletion Syndrome 1

0.700

CausalMutation

CLINVAR

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.

21933806

2011

Entrez Id:	1890
Gene Symbol:	TYMP

TYMP

CUI:	C4551995
Disease:	Mitochondrial DNA Depletion Syndrome 1

Mitochondrial DNA Depletion Syndrome 1

0.700

CausalMutation

CLINVAR

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.

14720311

2004