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: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE Our results indicate that ERBB4 mutations may play a limited role in melanomas in China; therefore, targeting the ERBB4 mutation in melanoma patients from southern China may not be a promising strategy. 23237222 2013
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE We found ERBB4 mutations in 19% of individuals with melanoma and found mutations in two other kinases (FLT1 and PTK2B) in 10% of individuals with melanomas. 19718025 2009
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE This sequencing technique has successfully been applied within a clinical trial selecting patients with ERBB4-mutant melanoma for lapatinib treatment. 24258993 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE Mutations in melanoma cell lines correlated with their sensitivity to corresponding small molecule inhibitors, confirming, for example, lapatinib sensitivity in ERBB4 mutant lines and identifying a novel activating mutation of BRAF. 24628946 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease CLINVAR Melanoma cells expressing mutant ERBB4 had reduced cell growth after shRNA-mediated knockdown of ERBB4 or treatment with the ERBB inhibitor lapatinib. 19718025 2009
CUI: C3715155
Disease: AMYOTROPHIC LATERAL SCLEROSIS 19
AMYOTROPHIC LATERAL SCLEROSIS 19 		0.700 GeneticVariation disease UNIPROT ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. 24119685 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 GeneticVariation disease BEFREE ErbB4 receptor polymorphism 2368A>C and risk of breast cancer. 30336339 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 GeneticVariation disease 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 GeneticVariation disease BEFREE The Cancer Genome Atlas analysis revealed that somatic EGFR, receptor tyrosine-protein kinase erbB-2 (ERBB2), Erb-B2 receptor tyrosine kinase 3 (ERBB3) and Erb-B2 receptor tyrosine kinase 4 (ERBB4) gene mutations (ERBB family mutations) occur alone or co-occur with somatic mutations in the gene encoding the phosphatidylinositol 3-kinase (PI3K) catalytic subunit (PIK3CA) in 19% of human epidermal growth factor receptor 2 (HER2)-positive breast cancers. 28750640 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 GeneticVariation disease GWASDB A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study. 22452962 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 GeneticVariation disease BEFREE A number of single nucleotide polymorphisms (SNPs) in ERBB4 gene have been linked to increase the risk of breast cancer. 28508829 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 GeneticVariation disease BEFREE SNP rs13393577 at chromosome 2q34, located in the Epidermal Growth Factor Receptor 4 (ERBB4) gene, showed a consistent association with breast cancer risk with combined odds ratios (95% CI) of 1.53 (1.37-1.70) (combined P for trend = 8.8 × 10-14). 22452962 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 GeneticVariation disease BEFREE The present study aimed to predict potential 3'‑UTR variants of ErbB4 that alter the target binding site of microRNAs (miRNAs) and to clarify the association of the potential variant with the risk of developing breast cancer. 27035115 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 GeneticVariation disease BEFREE These data present the germ-line ERBB4 variant -815A>T as a novel prognostic marker in high-risk early breast cancer and indicate the presence of rare but potentially oncogenic somatic ERBB4 mutations in breast cancer. 25036186 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease GWASCAT A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study. 22452962 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease BEFREE A number of single nucleotide polymorphisms (SNPs) in ERBB4 gene have been linked to increase the risk of breast cancer. 28508829 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease BEFREE SNP rs13393577 at chromosome 2q34, located in the Epidermal Growth Factor Receptor 4 (ERBB4) gene, showed a consistent association with breast cancer risk with combined odds ratios (95% CI) of 1.53 (1.37-1.70) (combined P for trend = 8.8 × 10-14). 22452962 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease BEFREE ErbB4 receptor polymorphism 2368A>C and risk of breast cancer. 30336339 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease BEFREE The present study aimed to predict potential 3'‑UTR variants of ErbB4 that alter the target binding site of microRNAs (miRNAs) and to clarify the association of the potential variant with the risk of developing breast cancer. 27035115 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease BEFREE These data present the germ-line ERBB4 variant -815A>T as a novel prognostic marker in high-risk early breast cancer and indicate the presence of rare but potentially oncogenic somatic ERBB4 mutations in breast cancer. 25036186 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease BEFREE We detected the ERBB4 somatic mutations in 3 of 180 gastric carcinomas (1.7%), 3 of 104 colorectal carcinomas (2.9%), 5 of 217 nonsmall cell lung cancers (2.3%) and 1 of 94 breast carcinomas (1.1%). 16187281 2006
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.410 GeneticVariation disease GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.400 GeneticVariation disease BEFREE In this study, we aimed to investigate the association of ERBB4 rs707284 and BACE1 rs490460 with the risk of SZ in an Iranian population. 28384043 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.400 GeneticVariation disease BEFREE The findings support the involvement of the ERBB4 gene in schizophrenia in Han Chinese. 20600594 2010