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:

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:

rs1023075742

NDUFA6 ; SMDT1 ; NDUFA6-DT

0.700

CausalMutation

CLINVAR

dbSNP:

rs111033573

TWNK ; MRPL43

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs111033577

TWNK ; MRPL43

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs1131691575

POLG ; FANCI

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs1131692061

ND4 ; ND5 ; TRNL2

0.700

CausalMutation

CLINVAR

dbSNP:

rs1131692062

ND4 ; ND5 ; TRNL2

0.700

CausalMutation

CLINVAR

dbSNP:

rs1131692063

CYTB ; ND5

0.700

CausalMutation

CLINVAR

dbSNP:

rs1131692064

ATP6 ; ATP8 ; COX2 ; COX3

0.700

CausalMutation

CLINVAR

dbSNP:

rs113994095

POLG ; MIR6766

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs113994096

POLG

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs113994097

POLG

0.720

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs113994097

POLG

0.720

GeneticVariation

BEFREE

Mitochondrial disorder was clinically suspected and a homozygous c.2243G>C mutation (p.Trp748Ser) was discovered in the POLG1 gene.

23248042

2012

dbSNP:

rs113994097

POLG

0.720

GeneticVariation

BEFREE

Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.

17088268

2006

dbSNP:

rs113994099

POLG

0.710

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs113994099

POLG

0.710

GeneticVariation

BEFREE

A POLG Y955C point mutation causes human chronic progressive external ophthalmoplegia (CPEO), a mitochondrial disease with eye muscle weakness and mtDNA defects.

17310215

2007

dbSNP:

rs115079861

RMND1

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

0.700

CausalMutation

CLINVAR

dbSNP:

rs121434453

CYTB ; ND6 ; TRNE

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:

rs121918046

POLG

0.010

GeneticVariation

BEFREE

Subsequent Sanger sequencing of POLG in a further 275 unrelated probands with genetically unconfirmed mitochondrial disease revealed a third unrelated proband with a similar phenotype harboring homozygous c.1879C>T; p.R627W mutations and a fourth patient, with a milder clinical disorder, harboring compound heterozygous POLG c.1879C>T; p.R627W and c.2341G>A; p.A781T mutations.

31425757

2019

dbSNP:

rs121918054

POLG

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs1365700579

YARS2

0.700

CausalMutation

CLINVAR

Decreased male reproductive success in association with mitochondrial dysfunction.

28812649

2017

dbSNP:

rs143319805

OPA1

0.020

GeneticVariation

BEFREE

The paper described a 12yo female with multisystem mitochondrial disorder (MID) due to the compound heterozygous variants c.1963_1964dupAT and p.Ile382Met in OPA1 manifesting phenotypically with congenital nystagmus, developmental delay, visual impairment, gait ataxia, epilepsy, a stroke-like episode (SLE) with encephalopathy and vomiting, and hearing impairment.

31782039

2020

dbSNP:

rs143319805

OPA1

0.020

GeneticVariation

BEFREE

Using a targeted resequencing of 132 genes associated with mitochondrial disorders, in two probands we found compound heterozygous mutations in OPA1: in the first a 5 nucleotide deletion, causing a frameshift and insertion of a premature stop codon (p.Ser64Asnfs*7), and a missense change (p.Ile437Met), which has recently been reported to have clinical impact; in the second, a novel missense change (p.Val988Phe) co-occurred with the p.Ile437Met substitution.

28494813

2017