ERBIN, erbb2 interacting protein, 55914

N. diseases: 31; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
0.300 Biomarker disease CTD_human The mutational landscape of adenoid cystic carcinoma. 23685749 2013
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C1285654
Disease: Memory performance
Memory performance
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. 29274321 2018
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 Biomarker disease BEFREE Interestingly, erbb2 interacting protein (ERBB2IP), a known target of miR-23c, was positively regulated by KTN1-AS1 and its restoration reversed KTN1-AS1 knockdown attenuated HCC cell growth. 30551364 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 Biomarker disease BEFREE Notably, ERBB2IP silencing restrained HCC cell proliferation and induced apoptosis. 30103114 2018
CUI: C0018801
Disease: Heart failure
Heart failure
0.020 Biomarker disease BEFREE We have recently demonstrated that Erbin is decreased in human heart failure and plays a role as a negative modulator of pathological cardiac hypertrophy. 26025865 2015
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.020 Biomarker disease BEFREE We have recently demonstrated that Erbin is decreased in human heart failure and plays a role as a negative modulator of pathological cardiac hypertrophy. 26025865 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 AlteredExpression group BEFREE We used a whole-exomic-sequencing-based approach to demonstrate that tumor-infiltrating lymphocytes (TIL) from a patient with metastatic cholangiocarcinoma contained CD4+ T helper 1 (T(H)1) cells recognizing a mutation in erbb2 interacting protein (ERBB2IP) expressed by the cancer. 24812403 2014
CUI: C0018801
Disease: Heart failure
Heart failure
0.020 Biomarker disease BEFREE Erbin(-/-) mice rapidly develop decompensated cardiac hypertrophy, and following severe pressure overload all Erbin(-/-) mice died from heart failure. 24711380 2014
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.020 Biomarker disease BEFREE Erbin(-/-) mice rapidly develop decompensated cardiac hypertrophy, and following severe pressure overload all Erbin(-/-) mice died from heart failure. 24711380 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 AlteredExpression group BEFREE We used a whole-exomic-sequencing-based approach to demonstrate that tumor-infiltrating lymphocytes (TIL) from a patient with metastatic cholangiocarcinoma contained CD4+ T helper 1 (T(H)1) cells recognizing a mutation in erbb2 interacting protein (ERBB2IP) expressed by the cancer. 24812403 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 AlteredExpression group BEFREE From the above results, we conclude that LAP2 is widely overexpressed in diverse digestive tract cancers and LAP2β regulates motility of cancer cells and suggest that LAP2β may have utility for diagnostics and therapeutics in digestive tract cancers. 22745766 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 AlteredExpression group BEFREE From the above results, we conclude that LAP2 is widely overexpressed in diverse digestive tract cancers and LAP2β regulates motility of cancer cells and suggest that LAP2β may have utility for diagnostics and therapeutics in digestive tract cancers. 22745766 2012
CUI: C0206704
Disease: Carcinoma, Large Cell
Carcinoma, Large Cell
0.010 GeneticVariation disease BEFREE Using immunohistochemistry with antibodies for emerin, lamin A/C, lamin B, and LAP2, we examined 105 lung cancer tissues from 33 small cell lung carcinomas (SCLCs) and 72 non-SCLCs (34 adenocarcinomas, 30 squamous cell carcinomas, and 8 large cell carcinomas). 31201505 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.010 Biomarker disease BEFREE Nuclear lamina genetic variants, including a truncated LAP2, in twins and siblings with nonalcoholic fatty liver disease. 28902428 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.010 Biomarker group BEFREE To test this, we analyzed RNA-Seq datasets, finding novel isoforms or isoform tissue-specificity for: Lap2, linked to cardiomyopathy; Nesprin 2, linked to Emery-Dreifuss muscular dystrophy and Lmo7, that regulates the Emery-Dreifuss muscular dystrophy linked emerin gene. 29912636 2018
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin
0.010 GeneticVariation disease BEFREE Besides, we validated four other SNPs associated with SCC in the replication set, including rs9689649 in PARK2 gene (P = 2.7 × 10(-6) in combined set; P = 3.2 × 10(-5) in the discovery; and P = 0.02 in the replication), rs754626 in the SRC gene (P = 1.1 × 10(-6) in combined set; P = 1.4 × 10(-5) in the discovery and P = 0.02 in the replication), rs9643297 in ST3GAL1 gene (P = 8.2 × 10(-6) in combined set; P = 3.3 × 10(-5) in the discovery; and P = 0.04 in the replication), and rs17247181 in ERBB2IP gene (P = 4.2 × 10(-6) in combined set; P = 3.1 × 10(-5) in the discovery; and P = 0.048 in the replication). 26908436 2016
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.010 AlteredExpression disease BEFREE In papillary carcinomas (PCs), the nuclear proteins most frequently expressed at high levels were emerin (82 % positive), lamin A/C (64 %), and LAP2 (82 %). 26254781 2015
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
0.010 GeneticVariation disease BEFREE It was shown recently that, in a patient with metastatic cholangiocarcinoma, CD4 T cells specific for a peptide from a mutated region of ERBB2IP could arrest tumor progression. 25710958 2015
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 GeneticVariation phenotype BEFREE It was shown recently that, in a patient with metastatic cholangiocarcinoma, CD4 T cells specific for a peptide from a mutated region of ERBB2IP could arrest tumor progression. 25710958 2015
CUI: C0206693
Disease: Medullary carcinoma
Medullary carcinoma
0.010 AlteredExpression disease BEFREE In all medullary carcinomas (MCs), intermediate to high levels of expression of lamin A/C and LAP2 were found. 26254781 2015
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.010 AlteredExpression group BEFREE Transcriptional regulation of miR-146b by C/EBPβ LAP2 in esophageal cancer cells. 24589738 2014
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.010 AlteredExpression disease BEFREE Transcriptional regulation of miR-146b by C/EBPβ LAP2 in esophageal cancer cells. 24589738 2014