OTX2, orthodenticle homeobox 2, 5015

N. diseases: 26; N. variants: 22
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.350 Biomarker disease CTD_human
CUI: C0265242
Disease: Otocephaly
Otocephaly 		0.330 GermlineModifyingMutation disease ORPHANET Consistent with this notion, trans suppression of otx2 and other developmentally related genes recapitulate aspects of the otocephaly phenotype in zebrafish. 22577225 2012
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.320 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.320 Biomarker group GENOMICS_ENGLAND
CUI: C1876185
Disease: Dysgnathia complex
Dysgnathia complex 		0.310 GermlineModifyingMutation disease ORPHANET OTX2 mutations contribute to the otocephaly-dysgnathia complex. 22577225 2012
CUI: C0205833
Disease: Medullomyoblastoma
Medullomyoblastoma 		0.310 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.310 Biomarker disease PSYGENET Based on this positive case-control association finding, we conclude that variations in OTX2 might confer risk for the development of bipolar disorder. 17541950 2007
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.300 GermlineCausalMutation disease ORPHANET New insights into septo-optic dysplasia. 24802313 2014
CUI: C1855052
Disease: MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 1 		0.300 GermlineCausalMutation disease ORPHANET Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328 2014
CUI: C4511237
Disease: Butterfly-shaped pigmentary macular dystrophy
Butterfly-shaped pigmentary macular dystrophy 		0.300 GermlineCausalMutation disease ORPHANET OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. 25293953 2014
CUI: C4551977
Disease: Microphthalmos, Autosomal Recessive
Microphthalmos, Autosomal Recessive 		0.300 GermlineCausalMutation disease ORPHANET Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328 2014
CUI: C0015923
Disease: Fetal Alcohol Syndrome
Fetal Alcohol Syndrome 		0.300 Biomarker disease PSYGENET Of these, four (Pten, Nmnat1, Slitrk2 and Otx2) were viewed as being crucial in the context of FASDs given their roles in the brain. 23580197 2013
CUI: C2985290
Disease: Fetal Alcohol Spectrum Disorders
Fetal Alcohol Spectrum Disorders 		0.300 Biomarker group PSYGENET Of these, four (Pten, Nmnat1, Slitrk2 and Otx2) were viewed as being crucial in the context of FASDs given their roles in the brain. 23580197 2013
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.300 GermlineCausalMutation disease ORPHANET Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. 21396578 2011
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.300 Biomarker phenotype CTD_human The transcription factor orthodenticle homeobox 2 influences axonal projections and vulnerability of midbrain dopaminergic neurons. 20573704 2010
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma 		0.300 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C1275668
Disease: Melanotic medulloblastoma
Melanotic medulloblastoma 		0.300 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.300 GermlineCausalMutation disease ORPHANET A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. 18728160 2008
CUI: C0022360
Disease: Jaw Abnormalities
Jaw Abnormalities 		0.300 Biomarker group CTD_human Genetic modifiers of otocephalic phenotypes in Otx2 heterozygous mutant mice. 12183386 2002
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.300 Biomarker disease GENOMICS_ENGLAND The human homeodomain protein OTX2 binds to the human tenascin-C promoter and trans-represses its activity in transfected cells. 9174161 1997