ERBB4, erb-b2 receptor tyrosine kinase 4, 2066

N. diseases: 317; N. variants: 75
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.120 GeneticVariation disease GWASCAT Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria. 30566500 2018
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.120 GeneticVariation disease GWASCAT Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. 26416764 2015
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
0.120 GeneticVariation group GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.110 GeneticVariation disease BEFREE We identified two nodes (depression and rs4672619 mapping to ERBB4 (Erb-B2 receptor tyrosine kinase 4)) that were within the Markov neighborhood of the symptom node in the network and then evaluated the interactive effects of depressive status and rs4672619 genotypes on asthma symptom severity. 29973587 2018
Amyotrophic Lateral Sclerosis, Sporadic
0.110 GeneticVariation disease GWASCAT Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. 24529757 2014
CUI: C0004096
Disease: Asthma
Asthma
0.100 GeneticVariation disease GWASCAT Genome-wide interaction studies reveal sex-specific asthma risk alleles. 24824216 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.100 GeneticVariation disease GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504 2012
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Most receptor tyrosine kinases-such as EGFR-act as oncogenes, but publicly available data from the Cancer Cell Line Encyclopedia (CCLE) indicates copy number loss in the ERBB4 RTK gene across dozens of GBM cell lines, suggesting a potential tumor suppressor role. 29342193 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Our study demonstrated that in addition to EGFR and ERBB2, somatic mutation of the kinase domain of ERBB4 occurs in the common human cancers, and suggested that alterations of ERBB4-mediated signaling pathway by ERBB4 mutations may contribute to the development of human cancers. 16187281 2006
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Genetic polymorphisms in ERBB4 are thought to be associated with cancer susceptibility. 27609473 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE The ErbB4 CYT2 variant protects EGFR from ligand-induced degradation to enhance cancer cell motility. 25140053 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group 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
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE In addition, two novel ERBB4 JM isoforms, which we have termed JMc and JMd, were isolated from 10% and 36% of tumors, respectively. 11391800 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE The availability of higher resolution copy number data from clinical GBM patients in The Cancer Genome Atlas (TCGA) revealed that a region in Intron 1 of the ERBB4 gene was deleted in 69.1% of tumor samples harboring ERBB4 copy number loss; however, it was also found to be deleted in the matched normal tissue samples from these GBM patients (n = 81). 29342193 2018
CUI: C0202231
Disease: Thyroxine measurement
Thyroxine measurement
0.100 GeneticVariation phenotype GWASCAT Genome-wide meta-analysis identifies novel loci associated with free triiodothyronine and thyroid-stimulating hormone. 30843173 2019
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.100 GeneticVariation phenotype GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.100 GeneticVariation disease GWASCAT GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network. 31311600 2019
CUI: C0428419
Disease: Triiodothyronine measurement
Triiodothyronine measurement
0.100 GeneticVariation phenotype GWASCAT Genome-wide meta-analysis identifies novel loci associated with free triiodothyronine and thyroid-stimulating hormone. 30843173 2019
CUI: C0523677
Disease: Glycine measurement
Glycine measurement
0.100 GeneticVariation phenotype GWASCAT Assessing the causal association of glycine with risk of cardio-metabolic diseases. 30837465 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation phenotype BEFREE However, accumulating data provide evidence for the significance of HER3 and HER4 alterations in breast carcinogenesis. 19481955 2010