ERBB2, erb-b2 receptor tyrosine kinase 2, 2064

N. diseases: 995; N. variants: 85
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933368
rs28933368
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C2750850
Disease:
GLIOMA SUSCEPTIBILITY 1
0.800 GeneticVariation UNIPROT Lung cancer: intragenic ERBB2 kinase mutations in tumours. 15457249 2004
dbSNP: rs28933368
rs28933368
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C2750850
Disease:
GLIOMA SUSCEPTIBILITY 1
A 0.800 CausalMutation CLINVAR
dbSNP: rs1057519816
rs1057519816
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.710 GeneticVariation BEFREE In this study, we reported the first clinical evidence of efficacy generated by afatinib, the irreversible HER family inhibitor, targeting HER2 S310Y single site mutation in lung adenocarcinoma. 29561699 2018
dbSNP: rs1057519816
rs1057519816
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519816
rs1057519816
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913469
rs121913469
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0684249
Disease:
Carcinoma of lung
0.710 GeneticVariation BEFREE Atomistic insights into the lung cancer-associated L755P mutation in HER2 resistance to lapatinib: a molecular dynamics study. 25620423 2015
dbSNP: rs1057519816
rs1057519816
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0027651
Disease:
Neoplasms
0.710 GeneticVariation BEFREE The tumor was found to harbor both EGFR L858R and ERBB2 S310F alterations and also tested positive for a known TP53 germline mutation. 24835218 2014
dbSNP: rs28933369
rs28933369
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0027651
Disease:
Neoplasms
A 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs1058808
rs1058808
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0004096
Disease:
Asthma
0.710 GeneticVariation BEFREE ICSNPathway analysis identified four candidate causal SNPs, four genes, and 21 candidate causal pathways, which in total provided four hypothetical biologic mechanisms: (1) rs7192 (nonsynonymous coding) to HLA-DRA to 21 pathways, such as, the role of eosinophils in the chemokine network of allergy, Th1/Th2 differentiation, and asthma (nominal p ≤ 0.001, FDR p ≤ 0.01); (2) rs20541 (nonsynonymous coding) to IL13 to asthma and cytokines and inflammatory response (nominal p<0.001, FDR p ≤ 0.008); (3) rs1058808 (frameshift coding) to ERBB2 to transmembrane receptor activity (nominal p=0.001, FDR p=0.01); (4) rs17350764 (nonsynonymous coding (deleterious)) to OR52J3 to transmembrane receptor activity (nominal p=0.001, FDR p=0.01). 23200760 2013
dbSNP: rs1057519816
rs1057519816
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0027651
Disease:
Neoplasms
T 0.710 GeneticVariation CLINVAR Functional analysis of receptor tyrosine kinase mutations in lung cancer identifies oncogenic extracellular domain mutations of ERBB2. 22908275 2012
dbSNP: rs1057519816
rs1057519816
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0027651
Disease:
Neoplasms
A 0.710 GeneticVariation CLINVAR Functional analysis of receptor tyrosine kinase mutations in lung cancer identifies oncogenic extracellular domain mutations of ERBB2. 22908275 2012
dbSNP: rs1058808
rs1058808
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0004096
Disease:
Asthma
0.710 GeneticVariation GWASDB Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. 21804549 2011
dbSNP: rs28933369
rs28933369
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0027651
Disease:
Neoplasms
0.710 GeneticVariation BEFREE In both spontaneous and DMBA studies, onset of palpable tumors was delayed in G60S mice compared with mice in control groups. 21151177 2011
dbSNP: rs121913469
rs121913469
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0684249
Disease:
Carcinoma of lung
0.710 GeneticVariation UNIPROT Lung cancer: intragenic ERBB2 kinase mutations in tumours. 15457249 2004
dbSNP: rs1136201
rs1136201
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0017654
Disease:
Glomerular Filtration Rate
A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs1242562412
rs1242562412
Entrez Id: 2064;93210
Gene Symbol: ERBB2;PGAP3
ERBB2;PGAP3
CUI: C0026827
Disease:
Muscle hypotonia
A 0.700 CausalMutation CLINVAR PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation. 28390064 2018
dbSNP: rs1242562412
rs1242562412
Entrez Id: 2064;93210
Gene Symbol: ERBB2;PGAP3
ERBB2;PGAP3
CUI: C0026650
Disease:
Movement Disorders
A 0.700 CausalMutation CLINVAR PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation. 28390064 2018
dbSNP: rs1242562412
rs1242562412
Entrez Id: 2064;93210
Gene Symbol: ERBB2;PGAP3
ERBB2;PGAP3
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation. 28390064 2018
dbSNP: rs146110680
rs146110680
Entrez Id: 2064;93210
Gene Symbol: ERBB2;PGAP3
ERBB2;PGAP3
CUI: C0596887
Disease:
mathematical ability
A 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: rs2952156
rs2952156
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0004096
Disease:
Asthma
A 0.700 GeneticVariation GWASCAT Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks. 29273806 2018
dbSNP: rs4252665
rs4252665
Entrez Id: 2064;84299
Gene Symbol: ERBB2;MIEN1
ERBB2;MIEN1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
A 0.700 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469 2017
dbSNP: rs1057519738
rs1057519738
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519738
rs1057519738
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0281361
Disease:
Adenocarcinoma of pancreas
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519738
rs1057519738
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0009404
Disease:
Colorectal Neoplasms
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519738
rs1057519738
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0235782
Disease:
Gallbladder Carcinoma
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016