DisGeNET - a database of gene-disease associations

ECHS1, enoyl-CoA hydratase, short chain 1, 1892

N. diseases: 93; N. variants: 26

Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs375032130

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.800

CausalMutation

CLINVAR

dbSNP:

rs587776498

Entrez Id:	1892;100500911
Gene Symbol:	ECHS1;MIR3944

ECHS1;MIR3944

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.800

CausalMutation

CLINVAR

dbSNP:

rs587776498

Entrez Id:	1892;100500911
Gene Symbol:	ECHS1;MIR3944

ECHS1;MIR3944

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.800

GeneticVariation

UNIPROT

dbSNP:

rs786204001

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.800

CausalMutation

CLINVAR

dbSNP:

rs864309656

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.800

CausalMutation

CLINVAR

dbSNP:

rs1085307550

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

26741492

2016

dbSNP:

rs1085307550

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

27221955

2016

dbSNP:

rs1426014295

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

26741492

2016

dbSNP:

rs1426014295

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

27221955

2016

dbSNP:

rs758723288

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

CLINVAR

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

26938784

2016

dbSNP:

rs761989177

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

27221955

2016

dbSNP:

rs761989177

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

26741492

2016

dbSNP:

rs769429279

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

26741492

2016

dbSNP:

rs769429279

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

27221955

2016

dbSNP:

rs1085307550

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.

25393721

2015

dbSNP:

rs1085307550

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.

26251176

2015

dbSNP:

rs1085307550

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

26000322

2015

dbSNP:

rs1426014295

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.

26251176

2015

dbSNP:

rs1426014295

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

26000322

2015

dbSNP:

rs1426014295

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.

25393721

2015

dbSNP:

rs761989177

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

26000322

2015

dbSNP:

rs761989177

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.

26251176

2015

dbSNP:

rs761989177

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.

25393721

2015

dbSNP:

rs769429279

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

26000322

2015

dbSNP:

rs769429279

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C4225391
Disease:

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

0.700

GeneticVariation

UNIPROT

ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.

25393721

2015