DisGeNET - a database of gene-disease associations

ERBB4, erb-b2 receptor tyrosine kinase 4, 2066

N. diseases: 317; N. variants: 75

Disease: AMYOTROPHIC LATERAL SCLEROSIS 19 ×

Variant: rs397514263 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs397514263

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C3715155
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 19

0.800

GeneticVariation

UNIPROT

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.

24119685

2013

dbSNP:

rs397514263

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C3715155
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 19

0.800

CausalMutation

CLINVAR