HIVEP2, HIVEP zinc finger 2, 3097

N. diseases: 42; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		0.600 Biomarker disease GENOMICS_ENGLAND Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		0.600 Biomarker disease CTD_human
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		0.600 CausalMutation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker group BEFREE HIVEP2-related ID needs to be considered in the differential diagnosis of patients with Angelman-like phenotypes and hyperphagia, and whole-exome sequencing should be considered in the genetic diagnostic armamentarium for patients with ID of inconclusive etiology. 31207095 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker group BEFREE Among them, mice lacking Schnurri-2 (Shn2 or HIVEP2) have been proposed as a model of schizophrenia and intellectual disability. 30285890 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker group BEFREE Previously, we proposed mice lacking Schnurri-2 (Shn2; also called major histocompatibility complex [MHC]-binding protein 2 [MBP-2], or human immunodeficiency virus type I enhancer binding protein 2 [HIVEP2]) as a schizophrenia and intellectual disability model with mild chronic inflammation. 29233179 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 GeneticVariation group BEFREE Loss-of-function variants in HIVEP2 are a cause of intellectual disability. 26153216 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 GeneticVariation group BEFREE Our findings provide further evidence that pathogenic variants in HIVEP2 lead to intellectual disabilities and developmental delay. 27003583 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker group GENOMICS_ENGLAND Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker group HPO
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.300 Biomarker disease CTD_human Cardioplegia prevents ischemia-induced transcriptional alterations of cytoprotective genes in rat hearts: a DNA microarray study. 16214533 2005
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.230 Biomarker disease BEFREE Shn2 knockout mice exhibit behavioral abnormalities resembling symptoms of schizophrenia and HIVEP2-related intellectual disability as well as marked functional alterations in the soma and output synapse of the dentate granule cells (GCs). 30285890 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.230 Biomarker disease BEFREE Previously, we proposed mice lacking Schnurri-2 (Shn2; also called major histocompatibility complex [MHC]-binding protein 2 [MBP-2], or human immunodeficiency virus type I enhancer binding protein 2 [HIVEP2]) as a schizophrenia and intellectual disability model with mild chronic inflammation. 29233179 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.230 Biomarker disease MGD Previously, we proposed mice lacking Schnurri-2 (Shn2; also called major histocompatibility complex [MHC]-binding protein 2 [MBP-2], or human immunodeficiency virus type I enhancer binding protein 2 [HIVEP2]) as a schizophrenia and intellectual disability model with mild chronic inflammation. 29233179 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.230 Biomarker disease MGD Circadian Gene Circuitry Predicts Hyperactive Behavior in a Mood Disorder Mouse Model. 27028761 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.230 AlteredExpression disease BEFREE Schizophrenia subjects had markedly higher mRNA levels for interleukin 6 (IL-6) (+379%) and interferon-β (+29%), which induce IFITM expression; lower mRNA levels for Schnurri-2 (-10%), a transcriptional inhibitor that lowers IFITM expression; and higher mRNA levels for nuclear factor-κB (+86%), a critical transcription factor that mediates cytokine regulation of immune-related gene expression. 26133963 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.230 Biomarker disease MGD Deficiency of schnurri-2, an MHC enhancer binding protein, induces mild chronic inflammation in the brain and confers molecular, neuronal, and behavioral phenotypes related to schizophrenia. 23389689 2013
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 Biomarker disease MGD
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.110 Biomarker phenotype BEFREE In addition, HIVEP2-knockout mice exhibit several working memory deficits, increased anxiety, and hyperactivity. 26153216 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE Our findings provide further evidence that pathogenic variants in HIVEP2 lead to intellectual disabilities and developmental delay. 27003583 2016
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.110 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019