OAT, ornithine aminotransferase, 4942

N. diseases: 92; N. variants: 71
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		1.000 GeneticVariation disease CLINVAR
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		1.000 Biomarker disease CTD_human
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 Biomarker phenotype HPO
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 Biomarker phenotype CTD_human
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 GeneticVariation phenotype CLINVAR
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.330 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.330 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.330 Biomarker group GENOMICS_ENGLAND
CUI: C0456909
Disease: Blindness
Blindness 		0.160 Biomarker phenotype HPO
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		0.110 Biomarker disease HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.100 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 GeneticVariation disease CLINVAR
CUI: C0030193
Disease: Pain
Pain 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		0.100 Biomarker phenotype HPO
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		0.100 Biomarker disease HPO
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		0.100 Biomarker disease HPO
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.100 Biomarker disease HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		0.100 Biomarker phenotype HPO