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: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		0.700 GermlineCausalMutation disease ORPHANET Heterozygous mutations of OTX2 cause severe ocular malformations. 15846561 2005
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		0.700 GermlineCausalMutation disease ORPHANET A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. 20396904 2010
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		0.400 GermlineCausalMutation disease ORPHANET New insights into septo-optic dysplasia. 24802313 2014
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: 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: 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: 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: 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: C1876185
Disease: Dysgnathia complex
Dysgnathia complex 		0.310 GermlineModifyingMutation disease ORPHANET OTX2 mutations contribute to the otocephaly-dysgnathia complex. 22577225 2012
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: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		0.700 Biomarker disease CTD_human
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		0.700 Biomarker disease GENOMICS_ENGLAND Heterozygous mutations of OTX2 cause severe ocular malformations. 15846561 2005
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		0.700 Biomarker disease GENOMICS_ENGLAND Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype. 19965921 2010
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: 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: 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: C3151440
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		0.600 Biomarker disease GENOMICS_ENGLAND Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype. 19965921 2010
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.410 Biomarker group GENOMICS_ENGLAND
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.400 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		0.400 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary 		0.400 Biomarker phenotype GENOMICS_ENGLAND Recent advances in central congenital hypothyroidism. 26416826 2015