HIVEP2, HIVEP zinc finger 2, 3097

N. diseases: 42; N. variants: 18
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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