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
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201865375
rs201865375
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		C 0.800 CausalMutation CLINVAR
dbSNP: rs375032130
rs375032130
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		C 0.800 CausalMutation CLINVAR
dbSNP: rs587776498
rs587776498
Entrez Id: 1892;100500911
Gene Symbol: ECHS1;MIR3944
ECHS1;MIR3944
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587776498
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
rs786204001
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		T 0.800 CausalMutation CLINVAR
dbSNP: rs864309656
rs864309656
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1318391499
rs1318391499
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs150321966
rs150321966
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs150321966
rs150321966
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554885530
rs1554885530
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		GTT 0.700 CausalMutation CLINVAR
dbSNP: rs1554886769
rs1554886769
Entrez Id: 1892;100500911
Gene Symbol: ECHS1;MIR3944
ECHS1;MIR3944
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		G 0.700 CausalMutation CLINVAR
dbSNP: rs371063211
rs371063211
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation UNIPROT
dbSNP: rs371582393
rs371582393
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs375266808
rs375266808
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation UNIPROT
dbSNP: rs565090080
rs565090080
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587776497
rs587776497
Entrez Id: 1892;100500911
Gene Symbol: ECHS1;MIR3944
ECHS1;MIR3944
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		C 0.700 CausalMutation CLINVAR
dbSNP: rs754609693
rs754609693
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs770931871
rs770931871
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		T 0.700 CausalMutation CLINVAR
dbSNP: rs775650144
rs775650144
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs777218310
rs777218310
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		C 0.700 CausalMutation CLINVAR
dbSNP: rs786204002
rs786204002
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		G 0.700 CausalMutation CLINVAR
dbSNP: rs201865375
rs201865375
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.800 GeneticVariation UNIPROT ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. 25125611 2014
dbSNP: rs375032130
rs375032130
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.800 GeneticVariation UNIPROT ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. 25125611 2014
dbSNP: rs786204001
rs786204001
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.800 GeneticVariation UNIPROT ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. 25125611 2014
dbSNP: rs864309656
rs864309656
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.800 GeneticVariation UNIPROT ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. 25125611 2014