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: C0036572
Disease: Seizures
Seizures 		0.400 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: C0036572
Disease: Seizures
Seizures 		0.400 GeneticVariation phenotype CLINVAR
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.320 GeneticVariation group BEFREE We sought to delineate the clinical, molecular, and neuroimaging spectrum of a novel neurodevelopmental disorder caused by variants in the zinc finger protein 292 gene (ZNF292). 31723249 2020
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.320 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.320 GeneticVariation group BEFREE Twenty five of these were identified in 923 established NDD genes (based on SysID database, status November 2016) (ACTB, AHDC1, ANKRD11, ATP6V1B2, ATRX, CASK, CHD8, GNAS, IFIH1, KCNQ2, KMT2A, KRAS, MAOA, MED12, MED13L, RIT1, SETD5, SIN3A, TCF4, TRAPPC11, TUBA1A, WAC, ZBTB18, ZMYND11), two in 543 (SysID) candidate genes (ZNF292, BPTF), and additionally a de novo loss-of-function variant in LRRC7, not previously implicated in NDDs. 29158550 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 GeneticVariation group BEFREE De novo and dominantly inherited variants in ZNF292 are associated with a range of neurodevelopmental features including ID and ASD. 31723249 2020
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 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: 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: 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: C0025958
Disease: Microcephaly
Microcephaly 		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: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets. 29662167 2018
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		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: 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: C0262361
Disease: Growth abnormality
Growth abnormality 		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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.300 Biomarker disease CTD_human Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets. 29662167 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.300 Biomarker disease CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
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: 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: 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: 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: 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: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019