OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
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 Biomarker disease CTD_human
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		0.700 CausalMutation disease CLINVAR
CUI: C3151440
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		0.600 CausalMutation disease CLINVAR
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.410 Biomarker group GENOMICS_ENGLAND
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.410 Biomarker group HPO
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		0.400 Biomarker disease HPO
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary 		0.400 Biomarker phenotype HPO
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: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 Biomarker disease HPO
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.200 Biomarker disease HPO
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.120 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 Biomarker disease HPO
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.120 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		0.110 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C0002453
Disease: Amenorrhea
Amenorrhea 		0.100 Biomarker phenotype HPO
CUI: C0003126
Disease: Anosmia
Anosmia 		0.100 Biomarker phenotype HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 GeneticVariation disease CLINVAR
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO