ERBB3, erb-b2 receptor tyrosine kinase 3, 2065

N. diseases: 318; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2292239
rs2292239
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.830 GeneticVariation BEFREE Here, we analysed the effect of T1D-associated major HLA class II haplotypes and seven single nucleotide polymorphisms in six non-HLA genes [INS (rs689), PTPN22 (rs2476601), IL2RA (rs12722495 and rs2104286), PTPN2 (rs45450798), CTLA4 (rs3087243) and ERBB3 (rs2292239)] on peripheral blood Treg frequencies. 31808541 2019
dbSNP: rs2292239
rs2292239
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.830 GeneticVariation BEFREE The rs2292239 polymorphism in ERBB3 gene is associated with risk for type 1 diabetes mellitus in a Brazilian population. 29109006 2018
dbSNP: rs2292239
rs2292239
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.830 GeneticVariation BEFREE Furthermore, we examined the expression of ERBB3 in human islets, the effect of ERBB3 knockdown on apoptosis in insulin-producing INS-1E cells and the genetic and regulatory architecture of the ERBB3 locus to provide insights to how rs2292239 may confer disease susceptibility. rs2292239 strongly correlated with residual β-cell function and metabolic control in children with T1D. 26450151 2016
dbSNP: rs2292239
rs2292239
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		T 0.830 GeneticVariation GWASCAT Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393 2011
dbSNP: rs2292239
rs2292239
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.830 GeneticVariation GWASCAT Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
dbSNP: rs2292239
rs2292239
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.830 GeneticVariation GWASDB Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
dbSNP: rs2292239
rs2292239
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		A 0.830 GeneticVariation GWASCAT Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 18978792 2008
dbSNP: rs2292239
rs2292239
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		A 0.830 GeneticVariation GWASDB Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 18978792 2008
dbSNP: rs2292239
rs2292239
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		A 0.830 GeneticVariation GWASCAT Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. 17554260 2007
dbSNP: rs2292239
rs2292239
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		A 0.830 GeneticVariation GWASDB Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. 17554260 2007
dbSNP: rs11171739
rs11171739
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.810 GeneticVariation BEFREE The locus 12q13 (lead SNP rs11171739), previously identified as a type 1 diabetes locus, was associated with a pattern including two cis eQTLs, RPS26 and SUOX, and 5 trans eQTLs, one of which (MADCAM1) is a potential candidate for mediating T1D susceptibility. 22144904 2011
dbSNP: rs11171739
rs11171739
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		C 0.810 GeneticVariation GWASDB Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 17554300 2007
dbSNP: rs11171739
rs11171739
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		C 0.810 GeneticVariation GWASCAT Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 17554300 2007
dbSNP: rs755855285
rs755855285
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C4746575
Disease:
ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia. 27416908 2016
dbSNP: rs755855285
rs755855285
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C4746575
Disease:
ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs10783779
rs10783779
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C1305855
Disease:
Body mass index 		T 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: rs11171739
rs11171739
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C1527304
Disease:
Allergic Reaction 		0.700 GeneticVariation GWASCAT A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases. 29785011 2018
dbSNP: rs11171739
rs11171739
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0596887
Disease:
mathematical ability 		C 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs11171739
rs11171739
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0004096
Disease:
Asthma 		0.700 GeneticVariation GWASCAT A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases. 29785011 2018
dbSNP: rs2271194
rs2271194
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0032460
Disease:
Polycystic Ovary Syndrome 		A 0.700 GeneticVariation GWASCAT Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria. 30566500 2018
dbSNP: rs1057519891
rs1057519891
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0280630
Disease:
Uterine Carcinosarcoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519891
rs1057519891
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0279680
Disease:
Transitional cell carcinoma of bladder 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519891
rs1057519891
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0279680
Disease:
Transitional cell carcinoma of bladder 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519891
rs1057519891
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C0280630
Disease:
Uterine Carcinosarcoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519891
rs1057519891
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
CUI: C1458155
Disease:
Mammary Neoplasms 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016