DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Mitochondrial Diseases ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1023075742

NDUFA6 ; SMDT1 ; NDUFA6-DT

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

dbSNP:

rs111033573

TWNK ; MRPL43

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs111033577

TWNK ; MRPL43

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs1131691575

POLG ; FANCI

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs1131692061

ND4 ; ND5 ; TRNL2

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

dbSNP:

rs1131692062

ND4 ; ND5 ; TRNL2

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

dbSNP:

rs1131692063

CYTB ; ND5

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

dbSNP:

rs1131692064

ATP6 ; ATP8 ; COX2 ; COX3

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

dbSNP:

rs113994095

POLG ; MIR6766

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs113994096

POLG

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs115079861

RMND1

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

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

27412952

2016

dbSNP:

rs118192098

ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

dbSNP:

rs121434453

CYTB ; ND6 ; TRNE

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

dbSNP:

rs121918054

POLG

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs1365700579

YARS2

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs144972972

RMND1

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

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

27412952

2016

dbSNP:

rs1553877864

OPA1

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs1554042187

GFM2

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.

29075935

2017

dbSNP:

rs1554887028

TWNK ; MRPL43

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs1554887097

TWNK ; MRPL43

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs1554887213

TWNK

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs1554887222

TWNK

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs1556423547

ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

dbSNP:

rs1556424691

CYTB ; ND6 ; TRNT

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

CO₂-sensitive tRNA modification associated with human mitochondrial disease.

29760464

2018

dbSNP:

rs1556424691

CYTB ; ND6 ; TRNT

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.

30236074

2018