DisGeNET - a database of gene-disease associations

SUCLG1, succinate-CoA ligase GDP/ADP-forming subunit alpha, 8802

N. diseases: 47; N. variants: 7

Disease: Methylmalonic aciduria ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C1855119
Disease:	Methylmalonic aciduria

Methylmalonic aciduria

0.110

GeneticVariation

disease

BEFREE

Succinate-CoA ligase deficiency due to SUCLG1 mutations is a rare cause of methylmalonic aciduria.

26028457

2016

CUI:	C1855119
Disease:	Methylmalonic aciduria

Methylmalonic aciduria

0.110

Biomarker

disease

HPO