OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Disease: Microphthalmia, Syndromic 5 ×
Source: ALL
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 GeneticVariation disease UNIPROT 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 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 GeneticVariation disease UNIPROT OTX2 mutations contribute to the otocephaly-dysgnathia complex. 22577225 2012
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: 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 GeneticVariation disease UNIPROT A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction. 19956411 2009
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: 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 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 CausalMutation disease CLINVAR