DisGeNET - a database of gene-disease associations

IBA57, iron-sulfur cluster assembly factor IBA57, 200205

N. diseases: 63; N. variants: 13

Disease: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE ×

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:	C4225322
Disease:	SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE

SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE

0.700

Biomarker

disease

GENOMICS_ENGLAND

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.

30258207

2018

CUI:	C4225322
Disease:	SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE

SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE

0.700

Biomarker

disease

GENOMICS_ENGLAND

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.

30258207

2018

CUI:	C4225322
Disease:	SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE

SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE

0.700

GermlineCausalMutation

disease

ORPHANET

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.

25609768

2015

CUI:	C4225322
Disease:	SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE

SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE

0.700

Biomarker

disease

GENOMICS_ENGLAND

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.

25609768

2015

CUI:	C4225322
Disease:	SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE

SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE

0.700

Biomarker

disease

CTD_human

CUI:	C4225322
Disease:	SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE

SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE

0.700

CausalMutation

disease

CLINVAR