DisGeNET - a database of gene-disease associations

ERBB4, erb-b2 receptor tyrosine kinase 4, 2066

N. diseases: 317; N. variants: 75

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:

rs6735626

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C1314691
Disease:

Age at menarche

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs1464443

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.700

GeneticVariation

GWASCAT

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

24529757

2014

dbSNP:

rs1464443

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C3542025
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

GWASCAT

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

24529757

2014

dbSNP:

rs397514262

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C3715155
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 19

0.800

CausalMutation

CLINVAR

dbSNP:

rs397514262

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

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:

rs1464443

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C1842675
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)

0.700

GeneticVariation

GWASCAT

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

24529757

2014

dbSNP:

rs1464443

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C1862941
Disease:

Amyotrophic Lateral Sclerosis, Sporadic

0.700

GeneticVariation

GWASCAT

Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

24529757

2014

dbSNP:

rs4673659

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C0004096
Disease:

Asthma

0.700

GeneticVariation

GWASCAT

Genome-wide interaction studies reveal sex-specific asthma risk alleles.

24824216

2014

dbSNP:

rs4672619

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C0004096
Disease:

Asthma

0.010

GeneticVariation

BEFREE

In conclusion, we have identified a novel SNP, rs4672619, that shows interactive effects with depression on asthma symptom severity in childhood and elderly asthmatics in opposite directions.

29973587

2018

dbSNP:

rs35544454

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C0004238
Disease:

Atrial Fibrillation

0.700

GeneticVariation

GWASCAT

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

30061737

2018

dbSNP:

rs1879532

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C0004352
Disease:

Autistic Disorder

0.700

GeneticVariation

GWASDB

Individual common variants exert weak effects on the risk for autism spectrum disorders.

22843504

2012

dbSNP:

rs707284

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C0005586
Disease:

Bipolar Disorder

0.010

GeneticVariation

BEFREE

Two SNPs (rs707284 and rs839523) showed nominal significance in the BPAD patients but this was eliminated after permutation.

21993442

2012

dbSNP:

rs839523

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C0005586
Disease:

Bipolar Disorder

0.010

GeneticVariation

BEFREE

Two SNPs (rs707284 and rs839523) showed nominal significance in the BPAD patients but this was eliminated after permutation.

21993442

2012

dbSNP:

rs2220024

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs16825008

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs6435622

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

30239722

2019

dbSNP:

rs13393577

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C0678222
Disease:

Breast Carcinoma

0.710

GeneticVariation

GWASCAT

Furthermore, this study provides strong evidence implicating rs13393577 at 2q34 as a new risk variant for breast cancer.

22452962

2012

dbSNP:

rs13393577

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C0678222
Disease:

Breast Carcinoma

0.710

GeneticVariation

BEFREE

Furthermore, this study provides strong evidence implicating rs13393577 at 2q34 as a new risk variant for breast cancer.

22452962

2012

dbSNP:

rs11895168

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C0678222
Disease:

Breast Carcinoma

0.010

GeneticVariation

BEFREE

rs11895168 C allele is strongly and significantly associated with the increased risk of breast cancer and positivity of ER/PR tumor cells.

27262100

2016

dbSNP:

rs13423759

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C0678222
Disease:

Breast Carcinoma

0.010

GeneticVariation

BEFREE

rs13423759 allele C is significantly associated with the enhanced risk of breast cancer, elevated metastasis and HER2 positivity.

30336339

2018

dbSNP:

rs1836724

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C0678222
Disease:

Breast Carcinoma

0.010

GeneticVariation

BEFREE

Bioinformatics analysis identified rs1836724 to be a polymorphism in the seed region of four miRNA binding sites (hsa-miR335-5p, hsa-miR-28-5p, has‑miR‑708‑5p and has‑miR‑665), which may participate in the development of breast cancer.

27035115

2016

dbSNP:

rs1972820

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C0678222
Disease:

Breast Carcinoma

0.010

GeneticVariation

BEFREE

rs1972820 SNP allele is significantly associated with the reduced risk of breast cancer and could be considered as a potential marker for breast cancer predisposition in population of Isfahan.

28508829

2018

dbSNP:

rs7558615

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

CUI:	C0678222
Disease:

Breast Carcinoma

0.010

GeneticVariation

BEFREE

In analysis of selected candidate cancer susceptibility genes, two MSR1 SNPs (rs9325782, GEE p = 0.008 and rs2410373, FBAT p = 0.021) were associated with prostate cancer and three ERBB4 SNPs (rs905883 GEE p = 0.0002, rs7564590 GEE p = 0.003, rs7558615 GEE p = 0.0078) were associated with breast cancer.

17903305

2007