ZNF292, zinc finger protein 292, 23036

N. diseases: 53; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		0.300 Biomarker phenotype GENOMICS_ENGLAND The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports. 29904178 2018
CUI: C4022810
Disease: Abnormality of nervous system morphology
Abnormality of nervous system morphology 		0.300 Biomarker disease GENOMICS_ENGLAND The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports. 29904178 2018
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.300 Biomarker phenotype GENOMICS_ENGLAND The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports. 29904178 2018
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.300 Biomarker disease GENOMICS_ENGLAND The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports. 29904178 2018
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.010 AlteredExpression disease BEFREE Therefore, normal and AE fibroblasts were grown in normal medium containing physiological levels of Zn (16 micromol/L) for approximately 24 h. The medium was replaced by normal medium (16 micromol/L Zn), Zn-depleted medium (1.5 micromol/L Zn), or Zn-supplemented medium (200 micromol/L Zn) for another 24 h. Regardless of the Zn concentration of the growth medium, the AE fibroblasts contained significantly less Zn than normal fibroblasts grown in comparable medium. 9498326 1998
CUI: C1865598
Disease: Alveolar ridge overgrowth
Alveolar ridge overgrowth 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASCAT Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. 21116278 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASDB Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. 21116278 2011
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.300 Biomarker disease GENOMICS_ENGLAND The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports. 29904178 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.020 GeneticVariation disease BEFREE We identify novel DN LGD recurrences (GIGYF2, MYT1L, CUL3, DOCK8 and ZNF292) and DN mutations in previous ASD candidates (ARHGAP32, NCOR1, PHIP, STXBP1, CDKL5 and SHANK1). 27824329 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.020 GeneticVariation disease BEFREE De novo and dominantly inherited variants in ZNF292 are associated with a range of neurodevelopmental features including ID and ASD. 31723249 2020
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker disease GENOMICS_ENGLAND We further discuss the role of ten genes known or assumed to be related to developmental delay and/or autism (BAI3, RIMS1, KCNQ5, HTR1B, PHIP, SYNCRIP, HTR1E, ZNF292, AKIRIN2 and EPHA7). 29904178 2018
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		0.010 GeneticVariation group BEFREE Deletion of Zfp292 or Bptf also abrogated the maintenance of ILC3s, leading to susceptibility to bacterial infection. 28319097 2017
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 GeneticVariation phenotype BEFREE Our data show that ZNF292 gene harbors not only frameshift mutations but also mutational ITH, which together may be features of GC and CRC with MSI-H. Based on this, the ZNF292 frameshift mutations may possibly contribute to tumorigenesis by altering its TSG functions in GC and CRC. 27150435 2016
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.300 Biomarker group GENOMICS_ENGLAND The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports. 29904178 2018
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.100 GeneticVariation disease CLINVAR
CUI: C4021555
Disease: Clinodactyly of the 3rd toe
Clinodactyly of the 3rd toe 		0.100 GeneticVariation phenotype CLINVAR
CUI: C4020740
Disease: Clinodactyly of the 4th toe
Clinodactyly of the 4th toe 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.310 GeneticVariation disease BEFREE Our data show that ZNF292 gene harbors not only frameshift mutations but also mutational ITH, which together may be features of GC and CRC with MSI-H. Based on this, the ZNF292 frameshift mutations may possibly contribute to tumorigenesis by altering its TSG functions in GC and CRC. 27150435 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.310 Biomarker disease CTD_human We also identified six genes driving malignant tumor progression and a new human CRC tumor-suppressor gene, ZNF292, that might also function in other types of cancer. 25559195 2015
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.300 Biomarker group CTD_human Transposon mutagenesis identifies genes and evolutionary forces driving gastrointestinal tract tumor progression. 25559195 2015
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 GeneticVariation disease CLINVAR
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.100 GeneticVariation disease CLINVAR