OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894464
rs104894464
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C1864690
Disease:
Microphthalmia, Syndromic 5 		0.800 GeneticVariation UNIPROT Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. 24167467 2013
dbSNP: rs104894464
rs104894464
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C1864690
Disease:
Microphthalmia, Syndromic 5 		0.800 GeneticVariation UNIPROT OTX2 mutations contribute to the otocephaly-dysgnathia complex. 22577225 2012
dbSNP: rs370761964
rs370761964
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C3151440
Disease:
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		0.800 GeneticVariation UNIPROT A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve. 22715480 2012
dbSNP: rs104894464
rs104894464
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C1864690
Disease:
Microphthalmia, Syndromic 5 		0.800 GeneticVariation UNIPROT A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. 20396904 2010
dbSNP: rs370761964
rs370761964
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C3151440
Disease:
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		0.800 GeneticVariation UNIPROT A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. 18728160 2008
dbSNP: rs104894464
rs104894464
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C1864690
Disease:
Microphthalmia, Syndromic 5 		0.800 GeneticVariation UNIPROT Heterozygous mutations of OTX2 cause severe ocular malformations. 15846561 2005
dbSNP: rs104894464
rs104894464
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C1864690
Disease:
Microphthalmia, Syndromic 5 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894464
rs104894464
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C1864690
Disease:
Microphthalmia, Syndromic 5 		C 0.800 CausalMutation CLINVAR
dbSNP: rs370761964
rs370761964
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C3151440
Disease:
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		C 0.800 CausalMutation CLINVAR
dbSNP: rs786205224
rs786205224
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C1864690
Disease:
Microphthalmia, Syndromic 5 		0.800 GeneticVariation UNIPROT
dbSNP: rs786205224
rs786205224
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C1864690
Disease:
Microphthalmia, Syndromic 5 		T 0.800 CausalMutation CLINVAR
dbSNP: rs61997667
rs61997667
Entrez Id: 5015;100309464
Gene Symbol: OTX2;OTX2-AS1
OTX2;OTX2-AS1
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs1555350254
rs1555350254
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C0003119
Disease:
Anophthalmos 		T 0.700 CausalMutation CLINVAR Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. 29178648 2017
dbSNP: rs773157352
rs773157352
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. 24167467 2013
dbSNP: rs773157352
rs773157352
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. 24167467 2013
dbSNP: rs773157352
rs773157352
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. 24167467 2013
dbSNP: rs199761861
rs199761861
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C3151440
Disease:
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		0.700 GeneticVariation UNIPROT A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve. 22715480 2012
dbSNP: rs773157352
rs773157352
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR OTX2 mutations contribute to the otocephaly-dysgnathia complex. 22577225 2012
dbSNP: rs773157352
rs773157352
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR OTX2 mutations contribute to the otocephaly-dysgnathia complex. 22577225 2012
dbSNP: rs773157352
rs773157352
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR OTX2 mutations contribute to the otocephaly-dysgnathia complex. 22577225 2012
dbSNP: rs199761861
rs199761861
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C3151440
Disease:
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		0.700 GeneticVariation UNIPROT A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. 18728160 2008
dbSNP: rs773157352
rs773157352
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. 18728160 2008
dbSNP: rs773157352
rs773157352
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. 18728160 2008
dbSNP: rs773157352
rs773157352
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. 18728160 2008
dbSNP: rs104894465
rs104894465
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C1864690
Disease:
Microphthalmia, Syndromic 5 		T 0.700 CausalMutation CLINVAR