DisGeNET - a database of gene-disease associations

ETFDH, electron transfer flavoprotein dehydrogenase, 2110

N. diseases: 59; N. variants: 32

Disease: GLUTARIC ACIDEMIA IIC ×

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C3278156
Disease:	GLUTARIC ACIDEMIA IIC

GLUTARIC ACIDEMIA IIC

0.400

Biomarker

disease

GENOMICS_ENGLAND

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

27604308

2016

CUI:	C3278156
Disease:	GLUTARIC ACIDEMIA IIC

GLUTARIC ACIDEMIA IIC

0.400

Biomarker

disease

GENOMICS_ENGLAND

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.

25655951

2015

CUI:	C3278156
Disease:	GLUTARIC ACIDEMIA IIC

GLUTARIC ACIDEMIA IIC

0.400

Biomarker

disease

GENOMICS_ENGLAND

An atlas of genetic influences on human blood metabolites.

24816252

2014

CUI:	C3278156
Disease:	GLUTARIC ACIDEMIA IIC

GLUTARIC ACIDEMIA IIC

0.400

CausalMutation

disease

CLINVAR