DisGeNET - a database of gene-disease associations

OGDH, oxoglutarate dehydrogenase, 4967

N. diseases: 55; N. variants: 2

Disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY ×

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:	C2752074
Disease:	ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY

ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY

0.600

Biomarker

disease

GENOMICS_ENGLAND

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

27604308

2016

CUI:	C2752074
Disease:	ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY

ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY

0.600

GeneticVariation

disease

ORPHANET

CUI:	C2752074
Disease:	ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY

ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY

0.600

Biomarker

disease

CTD_human

CUI:	C2752074
Disease:	ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY

ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY

0.600

Biomarker

disease

GENOMICS_ENGLAND