OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894464
rs104894464 		1.000 0.080 14 56802340 stop gained G/A;C snv
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 4 2005 2013
dbSNP: rs370761964
rs370761964 		1.000 14 56801931 missense variant T/C snv 1.6E-05 2.8E-05
CUI: C3151440
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		0.800 1.000 2 2008 2012
dbSNP: rs786205224
rs786205224 		1.000 0.080 14 56804202 missense variant C/T snv
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 0
dbSNP: rs773157352
rs773157352 		1.000 14 56804235 stop gained G/A;T snv 8.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 3 2008 2013
dbSNP: rs773157352
rs773157352 		1.000 14 56804235 stop gained G/A;T snv 8.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2008 2013
dbSNP: rs773157352
rs773157352 		1.000 14 56804235 stop gained G/A;T snv 8.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2008 2013
dbSNP: rs199761861
rs199761861 		0.925 0.080 14 56802204 missense variant G/C;T snv 2.1E-04; 1.6E-05
CUI: C3151440
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		0.700 1.000 2 2008 2012
dbSNP: rs1555350254
rs1555350254 		1.000 0.080 14 56802333 missense variant G/T snv
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2017 2017
dbSNP: rs61997667
rs61997667 		14 56813328 non coding transcript exon variant C/A;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs104894465
rs104894465 		0.925 0.080 14 56802068 stop gained A/G;T snv 2.0E-05
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1555350156
rs1555350156 		1.000 0.080 14 56801845 frameshift variant GTTG/- delins
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1555350223
rs1555350223 		1.000 0.080 14 56802202 frameshift variant -/G delins
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1555350397
rs1555350397 		0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555350397
rs1555350397 		0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555350397
rs1555350397 		0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C1855285
Disease: Protruding ear
Protruding ear 		0.700 0
dbSNP: rs1555350397
rs1555350397 		0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555350397
rs1555350397 		0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0751466
Disease: Phonophobia
Phonophobia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555350397
rs1555350397 		0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1555350397
rs1555350397 		0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 0
dbSNP: rs1555350397
rs1555350397 		0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.700 0
dbSNP: rs1555350397
rs1555350397 		0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1566622571
rs1566622571 		1.000 0.080 14 56801956 frameshift variant C/- delins
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1566623121
rs1566623121 		1.000 0.080 14 56802199 frameshift variant -/AG delins
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1566623392
rs1566623392 		1.000 0.080 14 56802335 missense variant T/A snv
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1566624472
rs1566624472 		1.000 0.080 14 56804201 frameshift variant GGGCAAGTTGATTTTC/- delins
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0