ERBB4, erb-b2 receptor tyrosine kinase 4, 2066

N. diseases: 317; N. variants: 75
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514262
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
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: rs397514262
rs397514262
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C3715155
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 19
T 0.800 CausalMutation CLINVAR
dbSNP: rs397514263
rs397514263
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C3715155
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 19
A 0.800 CausalMutation CLINVAR
dbSNP: rs1351592
rs1351592
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.710 GeneticVariation BEFREE Genotyping analysis showed the allele frequency of rs1351592 in gene ERBB4 was significantly different (P = 1.05E-03) between PCOS cases and control group, and remained significant even after BMI adjustment (P<sub>adjusted</sub> = 2.09E-04). 28195137 2017
dbSNP: rs1351592
rs1351592
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
G 0.710 GeneticVariation GWASCAT Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. 26416764 2015
dbSNP: rs13393577
rs13393577
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C0678222
Disease:
Breast Carcinoma
T 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
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: rs13393577
rs13393577
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C0006142
Disease:
Malignant neoplasm of breast
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: rs13393577
rs13393577
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C0006142
Disease:
Malignant neoplasm of breast
T 0.710 GeneticVariation GWASDB Furthermore, this study provides strong evidence implicating rs13393577 at 2q34 as a new risk variant for breast cancer. 22452962 2012
dbSNP: rs115683961
rs115683961
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C0523677
Disease:
Glycine measurement
A 0.700 GeneticVariation GWASCAT Assessing the causal association of glycine with risk of cardio-metabolic diseases. 30837465 2019
dbSNP: rs12373751
rs12373751
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
T 0.700 GeneticVariation GWASCAT GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network. 31311600 2019
dbSNP: rs13428799
rs13428799
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C0428419
Disease:
Triiodothyronine measurement
G 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis identifies novel loci associated with free triiodothyronine and thyroid-stimulating hormone. 30843173 2019
dbSNP: rs1394780
rs1394780
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C0202231
Disease:
Thyroxine measurement
G 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis identifies novel loci associated with free triiodothyronine and thyroid-stimulating hormone. 30843173 2019
dbSNP: rs16825008
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: rs1949651
rs1949651
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C0202239
Disease:
Uric acid measurement (procedure)
T 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
dbSNP: rs2220024
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: rs3791699
rs3791699
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C0017654
Disease:
Glomerular Filtration Rate
A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs4132462
rs4132462
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C0021704
Disease:
Intelligence
T 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
dbSNP: rs6435622
rs6435622
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C1305855
Disease:
Body mass index
C 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: rs6735626
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: rs9288447
rs9288447
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C0202239
Disease:
Uric acid measurement (procedure)
T 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
dbSNP: rs11693031
rs11693031
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C0525045
Disease:
Mood Disorders
G 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
dbSNP: rs11693031
rs11693031
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C1269683
Disease:
Major Depressive Disorder
G 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
dbSNP: rs12694277
rs12694277
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C0871470
Disease:
Systolic Pressure
T 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018