DisGeNET - a database of gene-disease associations

Mitochondrial Diseases, C0751651

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:

rs1555745989

ATP5F1D

0.710

CausalMutation

CLINVAR

Our data establish c.245C>T (p.Pro82Leu) and c.317T>G (p.Val106Gly) in ATP5F1D as pathogenic variants leading to a Mendelian mitochondrial disease featuring episodic metabolic decompensation.

29478781

2018

dbSNP:

rs1555745989

ATP5F1D

0.710

GeneticVariation

BEFREE

Our data establish c.245C>T (p.Pro82Leu) and c.317T>G (p.Val106Gly) in ATP5F1D as pathogenic variants leading to a Mendelian mitochondrial disease featuring episodic metabolic decompensation.

29478781

2018

dbSNP:

rs867410737

ATP5F1D

0.010

GeneticVariation

BEFREE

Our data establish c.245C>T (p.Pro82Leu) and c.317T>G (p.Val106Gly) in ATP5F1D as pathogenic variants leading to a Mendelian mitochondrial disease featuring episodic metabolic decompensation.

29478781

2018

dbSNP:

rs1131692064

ATP6 ; ATP8 ; COX2 ; COX3

0.700

CausalMutation

CLINVAR

dbSNP:

rs118192098

ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK

0.700

CausalMutation

CLINVAR

dbSNP:

rs1556423547

ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L

0.700

CausalMutation

CLINVAR

dbSNP:

rs199476133

ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L

0.700

CausalMutation

CLINVAR

dbSNP:

rs199476133

ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L

0.700

CausalMutation

CLINVAR

dbSNP:

rs199476138

ATP6 ; COX3 ; ND3 ; ND4 ; ND4L

0.700

CausalMutation

CLINVAR

dbSNP:

rs121908572

BCS1L ; ZNF142

0.010

GeneticVariation

BEFREE

Because of multisystem involvement, mitochondrial disease was suspected and the mutational analysis of the BCS1L gene revealed homozygous P99L mutation.

23892085

2013

dbSNP:

rs28937590

BCS1L ; ZNF142

0.010

GeneticVariation

BEFREE

Our aim was to assess whether 232A-->G or other BCS1L mutations were present in infants (n = 21) of Finnish origin with severe, lethal disease compatible with mitochondrial disorder.

18386115

2008

dbSNP:

rs542343726

BRCA2

0.010

GeneticVariation

BEFREE

The discovery of the c.1054C>T; p.R352W mutation in the FOXRED1 gene is a further contribution towards resolving the complex puzzle of the genetic basis of human mitochondrial disease.

20858599

2010

dbSNP:

rs752169833

CHCHD2

0.010

GeneticVariation

BEFREE

Importantly, a specific mitochondria-targeted peptide, Elamipretide/MTP-131, now tested in phase 3 clinical trials for mitochondrial diseases, was found to enhance CHCHD2 with MICOS and mitochondria oxidative phosphorylation enzymes in isogenic NPCs harboring heterozygous R145Q, suggesting that Elamipretide is able to attenuate CHCHD2 R145Q-induced mitochondria dysfunction.

30496485

2019

dbSNP:

rs755933881

COQ8A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1003624852

CYC1

0.010

GeneticVariation

BEFREE

G167P suggests possible molecular effects of S151P (corresponding in sequence to G167P) identified as a mitochondrial disease-related mutation in human cytochrome b.

26245902

2015

dbSNP:

rs1131692063

CYTB ; ND5

0.700

CausalMutation

CLINVAR

dbSNP:

rs267606897

CYTB ; ND5

0.700

CausalMutation

CLINVAR

dbSNP:

rs207460001

CYTB ; ND6

0.010

GeneticVariation

BEFREE

G167P suggests possible molecular effects of S151P (corresponding in sequence to G167P) identified as a mitochondrial disease-related mutation in human cytochrome b.

26245902

2015

dbSNP:

rs121434453

CYTB ; ND6 ; TRNE

0.700

CausalMutation

CLINVAR

dbSNP:

rs387906421

CYTB ; ND6 ; TRNE

0.700

CausalMutation

CLINVAR

dbSNP:

rs1556424691

CYTB ; ND6 ; TRNT

0.700

CausalMutation

CLINVAR

Mitochondrial disorder associated with newborn cardiopulmonary arrest.

8511015

1993

dbSNP:

rs1556424691

CYTB ; ND6 ; TRNT

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

dbSNP:

rs1556424691

CYTB ; ND6 ; TRNT

0.700

CausalMutation

CLINVAR

New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.

22638997

2012

dbSNP:

rs1556424691

CYTB ; ND6 ; TRNT

0.700

CausalMutation

CLINVAR

CO₂-sensitive tRNA modification associated with human mitochondrial disease.

29760464

2018

dbSNP:

rs387907087

FOXRED1

0.010

GeneticVariation

BEFREE

The discovery of the c.1054C>T; p.R352W mutation in the FOXRED1 gene is a further contribution towards resolving the complex puzzle of the genetic basis of human mitochondrial disease.

20858599

2010