HOMER2, homer scaffold protein 2, 9455

N. diseases: 29; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225240
Disease: DEAFNESS, AUTOSOMAL DOMINANT 68
DEAFNESS, AUTOSOMAL DOMINANT 68 		0.700 GeneticVariation disease UNIPROT HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. 25816005 2015
CUI: C4225240
Disease: DEAFNESS, AUTOSOMAL DOMINANT 68
DEAFNESS, AUTOSOMAL DOMINANT 68 		0.700 Biomarker disease GENOMICS_ENGLAND HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. 25816005 2015
CUI: C4225240
Disease: DEAFNESS, AUTOSOMAL DOMINANT 68
DEAFNESS, AUTOSOMAL DOMINANT 68 		0.700 Biomarker disease CTD_human
CUI: C4225240
Disease: DEAFNESS, AUTOSOMAL DOMINANT 68
DEAFNESS, AUTOSOMAL DOMINANT 68 		0.700 CausalMutation disease CLINVAR
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease BEFREE This study supports a role for HOMER2 gene in schizophrenia susceptibility. 19914345 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease PSYGENET This study supports a role for HOMER2 gene in schizophrenia susceptibility. 19914345 2010
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence 		0.310 GeneticVariation disease BEFREE The results of this study suggest that a polymorphism in the Homer1 gene, rs6871510, is a potential risk factor for the development of cocaine dependence in an African American population, whereas polymorphisms in the Homer2 gene are not. 16314758 2005
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence 		0.310 Biomarker disease CTD_human Homer2 gene deletion in mice produces a phenotype similar to chronic cocaine treated rats. 15545022 2004
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN Whole exome sequencing identified a second pathogenic variant in HOMER2 for autosomal dominant non-syndromic deafness. 30047143 2018
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. 25816005 2015
CUI: C0009171
Disease: Cocaine Abuse
Cocaine Abuse 		0.300 Biomarker disease CTD_human Homer2 gene deletion in mice produces a phenotype similar to chronic cocaine treated rats. 15545022 2004
CUI: C0236736
Disease: Cocaine-Related Disorders
Cocaine-Related Disorders 		0.300 Biomarker group CTD_human Homer2 gene deletion in mice produces a phenotype similar to chronic cocaine treated rats. 15545022 2004
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 GeneticVariation disease BEFREE Our research provides a validating second family for variants in HOMER2 causing non-syndromic sensorineural hearing loss. 30047143 2018
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 Biomarker disease HPO
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		0.020 AlteredExpression disease BEFREE We have previously shown that HOMER2 (Homer scaffolding protein 2), a protein coding gene, was highly expressed in low grade (LG) endometrioid adenocarcinoma (EAC) of the uterus. 29891190 2018
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		0.020 Biomarker disease BEFREE We found that four genes were differentially expressed when MT-ECs were compared to pure low-grade EAC: CDKN2A (P = 0.006), H19 (P = 0.010), HOMER2 (P = 0.009) and TNNT1 (P = 0.006). 26132201 2015
CUI: C0003467
Disease: Anxiety
Anxiety 		0.010 Biomarker disease BEFREE Nevertheless, the present results provide novel cause-effect evidence supporting a role for CEA Homer2 in the regulation of both basal anxiety and the time-dependent intensification of negative affective states in individuals with a history of binge-drinking during adolescence. 29109058 2018
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 Biomarker group BEFREE Nevertheless, the present results provide novel cause-effect evidence supporting a role for CEA Homer2 in the regulation of both basal anxiety and the time-dependent intensification of negative affective states in individuals with a history of binge-drinking during adolescence. 29109058 2018
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 AlteredExpression disease BEFREE This is the first study of HOMER2 protein expression in EC. 29891190 2018
CUI: C0206687
Disease: Carcinoma, Endometrioid
Carcinoma, Endometrioid 		0.010 AlteredExpression disease BEFREE We have previously shown that HOMER2 (Homer scaffolding protein 2), a protein coding gene, was highly expressed in low grade (LG) endometrioid adenocarcinoma (EAC) of the uterus. 29891190 2018
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 AlteredExpression disease BEFREE This is the first study of HOMER2 protein expression in EC. 29891190 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 AlteredExpression phenotype BEFREE Statistical analysis was performed to evaluate associations between HOMER2 protein expression and pathological parameters (histological type, grade, stage, lymphovascular invasion, myometrial depth of invasion) and patient outcome [progression-free survival (PFS) and cancer-specific survival (CSS)]. 29891190 2018
CUI: C1336905
Disease: Endometrial Endometrioid Adenocarcinoma
Endometrial Endometrioid Adenocarcinoma 		0.010 AlteredExpression disease BEFREE Overexpression of HOMER2 predicts better outcome in low-grade endometrioid endometrial adenocarcinoma. 29891190 2018