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: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 GeneticVariation disease GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.400 Biomarker disease GENOMICS_ENGLAND Temtamy-like syndrome associated with translocation of 2p24 and 9q32. 14564155 2003
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.400 Biomarker disease GENOMICS_ENGLAND Temtamy-like syndrome associated with translocation of 2p24 and 9q32. 14564155 2003
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.400 CausalMutation disease CLINVAR
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.400 CausalMutation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.320 Biomarker disease BEFREE Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. 28513610 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.320 Biomarker disease 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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.320 Biomarker disease GENOMICS_ENGLAND Temtamy-like syndrome associated with translocation of 2p24 and 9q32. 14564155 2003
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker group GENOMICS_ENGLAND Temtamy-like syndrome associated with translocation of 2p24 and 9q32. 14564155 2003
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.300 Biomarker disease CTD_human Genome-wide interaction study of smoking behavior and non-small cell lung cancer risk in Caucasian population. 29059373 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation 		0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation 		0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0033377
Disease: Ptosis
Ptosis 		0.300 Biomarker disease GENOMICS_ENGLAND Temtamy-like syndrome associated with translocation of 2p24 and 9q32. 14564155 2003
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.300 Biomarker disease GENOMICS_ENGLAND Temtamy-like syndrome associated with translocation of 2p24 and 9q32. 14564155 2003
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		0.300 Biomarker phenotype GENOMICS_ENGLAND Temtamy-like syndrome associated with translocation of 2p24 and 9q32. 14564155 2003
CUI: C0270549
Disease: Generalized Anxiety Disorder
Generalized Anxiety Disorder 		0.200 Biomarker disease MGD
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