DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: 2,4-Dienoyl-CoA Reductase Deficiency ×

Gene: DECR1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1666
Gene Symbol:	DECR1

DECR1

CUI:	C1857252
Disease:	2,4-Dienoyl-CoA Reductase Deficiency

2,4-Dienoyl-CoA Reductase Deficiency

0.500

Biomarker

CTD_human

Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships.

25526675

2015

Entrez Id:	1666
Gene Symbol:	DECR1

DECR1

CUI:	C1857252
Disease:	2,4-Dienoyl-CoA Reductase Deficiency

2,4-Dienoyl-CoA Reductase Deficiency

0.500

Biomarker

GENOMICS_ENGLAND

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.

24847004

2014