DisGeNET - a database of gene-disease associations

Mitochondrial DNA Depletion Syndrome 1, C4551995

Variant: rs1064792863 ×

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:

rs1064792863

rs1064792863

TYMP

C

0.700

CausalMutation

CLINVAR

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

2004