DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 ×

Variant: rs201431517 ×

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:

rs201431517

MTFMT

CUI:	C3554182
Disease:	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

0.800

CausalMutation

CLINVAR

Molecular diagnostic experience of whole-exome sequencing in adult patients.

26633545

2016

dbSNP:

rs201431517

MTFMT

CUI:	C3554182
Disease:	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

0.800

CausalMutation

CLINVAR

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

24461907

2014

dbSNP:

rs201431517

MTFMT

CUI:	C3554182
Disease:	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

0.800

CausalMutation

CLINVAR

Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase.

25288793

2014

dbSNP:

rs201431517

MTFMT

CUI:	C3554182
Disease:	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

0.800

CausalMutation

CLINVAR

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.

23499752

2013

dbSNP:

rs201431517

MTFMT

CUI:	C3554182
Disease:	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

0.800

CausalMutation

CLINVAR

A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.

24123792

2013

dbSNP:

rs201431517

MTFMT

CUI:	C3554182
Disease:	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

0.800

CausalMutation

CLINVAR

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

22499348

2012

dbSNP:

rs201431517

MTFMT

CUI:	C3554182
Disease:	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

0.800

CausalMutation

CLINVAR

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.

21907147

2011