DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy ×

Gene: ACADVL ×

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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:	37
Gene Symbol:	ACADVL

ACADVL

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.010

AlteredExpression

BEFREE

CK-creatine kinase; COX-cytochrome c oxidase; CPT-carnitine palmitoyl transferase; cyt b-cytochrome b; mtDNA-mitochondrial DNA; nDNA-nuclear DNA; PFK-phosphofructokinase; PGAM-phosphoglycerate mutase; PGK-phosphoglycerate kinase; PPL-myophosphorylase; RRF-ragged red fibers; TFP-trifunctional protein deficiency; VLCAD-very long-chain acyl-coenzyme A dehydrogenase.

20425236

2010