DisGeNET - a database of gene-disease associations

RMND1, required for meiotic nuclear division 1 homolog, 55005

N. diseases: 59; N. variants: 15

Disease: Mitochondrial Diseases ×

Source: ALL

Results per page

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.110

Biomarker

group

BEFREE

Characterization of the renal phenotype in RMND1-related mitochondrial disease.

31568715

2019

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.110

CausalMutation

group

CLINVAR

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

27412952

2016