OTX1, orthodenticle homeobox 1, 5013

N. diseases: 35; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Prostate specific antigen measurement
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer. 28139693 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.010 GeneticVariation disease BEFREE Similarly, in OTX1, rs2018650 and rs13000344 were associated with autism in ASD-CARC cohorts (P(FDR)=8.65 × 10(-7) and 6.07 × 10(5), respectively), AGRE cohort (P(FDR)=0.0034 and 0.015, respectively) and the combined families (P(FDR)=2.34 × 10(-9) and 0.00017, respectively); associations were marginal or insignificant in the New York and SIRFA cohorts. 21750575 2011
CUI: C0476254
Disease: Dyslexia
Dyslexia
0.010 GeneticVariation disease BEFREE Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1. 11901358 2002
CUI: C0871215
Disease: Reading Disabilities
Reading Disabilities
0.010 GeneticVariation disease BEFREE Our data therefore suggest that linkage with reading disability at 2p12-16 is not caused by coding variants of SEMA4F or OTX1. 11901358 2002
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.010 GeneticVariation disease BEFREE Similarly, in OTX1, rs2018650 and rs13000344 were associated with autism in ASD-CARC cohorts (P(FDR)=8.65 × 10(-7) and 6.07 × 10(5), respectively), AGRE cohort (P(FDR)=0.0034 and 0.015, respectively) and the combined families (P(FDR)=2.34 × 10(-9) and 0.00017, respectively); associations were marginal or insignificant in the New York and SIRFA cohorts. 21750575 2011
Bladder Exstrophy and Epispadias Complex
0.010 GeneticVariation disease BEFREE Subject-1 with BEEC had the smallest deletion (66 kb), which deleted only one copy of OTX1. 25203062 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE We have demonstrated that the differential gene expression for both OTX1 and OTX2 genes might be a useful molecular marker to distinguish the different types of sinonasal tumors. 30882801 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 Biomarker disease BEFREE The lncRNA FEZF1-AS1 promotes the progression of colorectal cancer through regulating OTX1 and targeting miR-30a-5p. 31270006 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 Biomarker disease BEFREE Together, our results indicate that OTX1 is involved in human colon carcinogenesis and may serve as a potential therapeutic target for human colorectal cancer. 24388989 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.020 Biomarker disease BEFREE As a strategy to define the embryonic origin and neurochemical phenotype of cells in this disease, we probed specimens (n = 10) resected during epilepsy surgery with a panel of 13 antibodies recognizing proteins associated with (i) specific progenitor cell types including brain lipid binding protein (BLBP), collapsin response mediator protein 4 (CRMP4), Dlx1, Dlx2, GFAPdelta, MASH1, Otx1, Pax6, vimentin and phosphorylated vimentin and (ii) excitatory or inhibitory neurochemical phenotypes such as the vesicular glutamate transporters-1 and 2 (VGLUT-1, VGLUT-2), or the vesicular GABA transporter (VGAT). 17711980 2007
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.020 Biomarker disease BEFREE Otx1 null mice exhibit spontaneous epileptic seizures and multiple abnormalities affecting primarily the dorsal telencephalic cortex and components of the acoustic and visual sense organs. 10068635 1999
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.020 Biomarker disease BEFREE OTX1 and OTX2 Genes in Medulloblastoma. 30797919 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 Biomarker phenotype BEFREE In conclusion, our data indicated that OTX1 functions as a key regulator in tumor growth and metastasis of GC cells. 30066897 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 Biomarker phenotype BEFREE Dowregulation of OTX1 attenuates gastric cancer cell proliferation, migration and invasion. 30066897 2018
Malignant neoplasm of colon and/or rectum
0.020 Biomarker disease BEFREE The lncRNA FEZF1-AS1 promotes the progression of colorectal cancer through regulating OTX1 and targeting miR-30a-5p. 31270006 2020
Malignant neoplasm of colon and/or rectum
0.020 Biomarker disease BEFREE Together, our results indicate that OTX1 is involved in human colon carcinogenesis and may serve as a potential therapeutic target for human colorectal cancer. 24388989 2014
Malignant neoplasm of urinary bladder
0.010 Biomarker disease BEFREE FGFR3, TERT and OTX1 as a Urinary Biomarker Combination for Surveillance of Patients with Bladder Cancer in a Large Prospective Multicenter Study. 28049011 2017
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.010 Biomarker disease BEFREE FGFR3, TERT and OTX1 as a Urinary Biomarker Combination for Surveillance of Patients with Bladder Cancer in a Large Prospective Multicenter Study. 28049011 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE The current results enabled the authors to identify novel potential therapeutic targets and biomarkers in E-ACC and M-ACC individually, with the implication that EN1, DLX6, and OTX1 (orthodenticle homeobox 1) are potential drivers of these cancers.Cancer 2016;122:1513-22.© 2016 American Cancer Society. 26953815 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 Biomarker group BEFREE OTX1 and OTX2 as possible molecular markers of sinonasal carcinomas and olfactory neuroblastomas. 28348423 2017
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.010 Biomarker disease BEFREE Using sodium-bisulfite-based approaches, 12 CpG islands (associated with the BARHL2, EVX2, IRX2, MEIS1, MSX1, NR2E1, OC2, OSR1, OTX1, PAX6, TFAP2A, and ZNF577 genes) were confirmed to be methylated in 85% to 100% of the squamous cell carcinomas and 11 CpG islands (associated with the CHAD, DLX4, GRIK2, KCNG3, NR2E1, OSR1, OTX1, OTX2, PROX1, RUNX1, and VAX1 genes) were methylated in >80% of the adenocarcinomas. 22143938 2012
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 Biomarker disease BEFREE In addition, the inhibition of OTX1 led to increased GC cell apoptosis by upregulating cleaved PARP, cleaved caspase‑3 and Bax. 30066897 2018
CUI: C0036572
Disease: Seizures
Seizures
0.010 Biomarker phenotype BEFREE Otx1-null mice have seizures, prepubescent transient growth retardation and gonadal defects. 25203062 2014
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.010 Biomarker disease BEFREE OTX1 and OTX2 Genes in Medulloblastoma. 30797919 2019
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
0.010 Biomarker disease BEFREE OTX1 and OTX2 Genes in Medulloblastoma. 30797919 2019