ZNF462, zinc finger protein 462, 58499

N. diseases: 34; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.010 GeneticVariation disease BEFREE Using facial analysis technology, a computer algorithm applying deep learning was able to accurately differentiate individuals with ZNF462 loss of function variants from individuals with Noonan syndrome and healthy controls. 31361404 2019
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 GeneticVariation disease BEFREE Herein, we present 14 new individuals with loss of function variants to the previous studies to delineate the syndrome of loss of function in ZNF462. 31361404 2019
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.010 GeneticVariation group BEFREE ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder. 29427787 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 GeneticVariation disease BEFREE ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder. 29427787 2018
CUI: C0003467
Disease: Anxiety
Anxiety 		0.010 Biomarker disease BEFREE In conclusion, Zfp462 deficiency causes anxiety-like behaviors with excessive self-grooming in mice. 27621227 2017
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 Biomarker group BEFREE In conclusion, Zfp462 deficiency causes anxiety-like behaviors with excessive self-grooming in mice. 27621227 2017
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.010 Biomarker group BEFREE Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. 28513610 2017
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		0.010 Biomarker disease BEFREE Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. 28513610 2017
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.010 Biomarker disease BEFREE Homozygosity mapping excluded three genes, VAX1, ASXL2, and ZNF462, which have previously been implicated in ACC with optic coloboma. 17632789 2007
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.020 Biomarker disease BEFREE Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. 28513610 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.020 Biomarker phenotype BEFREE By using a piggyBac transposon-generated Zfp462 knockout (KO) mouse model, we found that Zfp462 KO mice exhibited prenatal lethality with normal neural tube patterning, whereas heterozygous (Het) Zfp462 KO (Zfp462<sup>+/-</sup> ) mice showed developmental delay with low body weight and brain weight. 27621227 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.020 Biomarker phenotype BEFREE Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. 28513610 2017
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.020 Biomarker disease BEFREE Homozygosity mapping excluded three genes, VAX1, ASXL2, and ZNF462, which have previously been implicated in ACC with optic coloboma. 17632789 2007
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.100 GeneticVariation phenotype GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 GeneticVariation disease GWASCAT Genetic prediction of male pattern baldness. 28196072 2017
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. 28448500 2017
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Many sequence variants affecting diversity of adult human height. 18391951 2008
CUI: C0489786
Disease: Height
Height 		0.100 GeneticVariation phenotype GWASDB Many sequence variants affecting diversity of adult human height. 18391951 2008
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		0.100 CausalMutation phenotype CLINVAR
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		0.100 CausalMutation disease CLINVAR