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 Biomarker disease CTD_human
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.410 Biomarker group GENOMICS_ENGLAND
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.350 Biomarker disease CTD_human
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: C3151440
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		0.600 GeneticVariation disease UNIPROT A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. 18728160 2008
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: 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: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		0.700 GeneticVariation disease UNIPROT A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. 20396904 2010
CUI: C3151440
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		0.600 GeneticVariation disease UNIPROT A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve. 22715480 2012
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		0.700 GeneticVariation disease UNIPROT A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction. 19956411 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: 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: 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: 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 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 GeneticVariation disease UNIPROT 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: 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: 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: 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: 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