DisGeNET - a database of gene-disease associations

IBA57, iron-sulfur cluster assembly factor IBA57, 200205

N. diseases: 63; N. variants: 13

Disease: Encephalopathies ×

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:	C0085584
Disease:	Encephalopathies

Encephalopathies

0.110

GeneticVariation

group

BEFREE

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.

2013

CUI:	C0085584
Disease:	Encephalopathies

Encephalopathies

0.110

Biomarker

group

HPO