DisGeNET - a database of gene-disease associations

Mitochondrial Diseases, C0751651

Variant: rs886037771 ×

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:

rs886037771

rs886037771

RMND1

A

0.700

CausalMutation

CLINVAR

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

2016