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: 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: 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: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		0.400 GermlineCausalMutation disease ORPHANET New insights into septo-optic dysplasia. 24802313 2014
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.300 GermlineCausalMutation disease ORPHANET New insights into septo-optic dysplasia. 24802313 2014
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		0.700 Biomarker disease GENOMICS_ENGLAND Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. 18781617 2008
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: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		0.700 GeneticVariation disease UNIPROT Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. 24167467 2013
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		0.700 Biomarker disease GENOMICS_ENGLAND OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. 18628516 2008
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		0.700 GeneticVariation disease UNIPROT OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. 25293953 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: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		0.700 GeneticVariation disease UNIPROT OTX2 mutations contribute to the otocephaly-dysgnathia complex. 22577225 2012
CUI: C3151440
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		0.600 Biomarker disease GENOMICS_ENGLAND Recent advances in central congenital hypothyroidism. 26416826 2015
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary 		0.400 Biomarker phenotype GENOMICS_ENGLAND Recent advances in central congenital hypothyroidism. 26416826 2015
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		0.400 GermlineCausalMutation disease ORPHANET Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. 21396578 2011
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: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		0.700 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
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
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