DisGeNET - a database of gene-disease associations

Mitochondrial DNA Depletion Syndrome 1, C4551995

Variant: rs121913036 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913036

TYMP ; SCO2

0.700

CausalMutation

CLINVAR

MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation.

23430799

2013

dbSNP:

rs121913036

TYMP ; SCO2

0.700

CausalMutation

CLINVAR

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

23341816

2012

dbSNP:

rs121913036

TYMP ; SCO2

0.700

CausalMutation

CLINVAR

Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome.

20151198

2010

dbSNP:

rs121913036

TYMP ; SCO2

0.700

CausalMutation

CLINVAR

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

19344718

2009

dbSNP:

rs121913036

TYMP ; SCO2

0.700

CausalMutation

CLINVAR

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.

9924029

1999