DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 ×

Gene: KIF5A ×

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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:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C4693609
Disease:	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25

AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25

0.600

GeneticVariation

UNIPROT

Hot-spot KIF5A mutations cause familial ALS.

29342275

2018

Entrez Id:	3798
Gene Symbol:	KIF5A