| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome |
3-Methylglutaconic Aciduria With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome |
BEFREE |
23296368 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Angle Closure Glaucoma |
Angle Closure Glaucoma |
BEFREE |
18055808 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anterior subcapsular cataract |
Subcapsular cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia |
Ataxia |
Pubtator |
31928268 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal dominant optic atrophy and cataract |
Optic Atrophy And Cataract |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Basal Ganglia Diseases |
Basal ganglia disease |
Pubtator |
20350831 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
35176941 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
30991875 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy, Dilated |
Cardiomyopathy |
BEFREE |
18222992 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
LHGDN |
15342707 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
BEFREE |
18496845, 21036400, 24136862, 25159689 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
Pubtator |
18496845, 21036400, 31928268 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract, congenital, cerulean type 1 |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar atrophy |
Cerebellar atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choreoathetosis |
Choreoathetosis |
BEFREE |
26190011 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choreoathetosis |
Choreoathetosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Color Blindness, Blue |
Color blindness |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Color Blindness, Red-Green |
Color blindness |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Costeff optic atrophy syndrome |
Costeff optic atrophy syndrome |
Pubtator |
11668429, 20350831, 31928268 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Disorder of eye |
Disorder Of Eye |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyslexia |
Dyslexia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exfoliation Syndrome |
Exfoliation Syndrome |
BEFREE |
18246027 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
15902555 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
BEFREE |
26187298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
23700088 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
26190011 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophies, Hereditary |
Hereditary optic atrophy |
BEFREE |
25205859 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
BEFREE |
11668429, 12126933, 18985435, 20372962, 24136862, 26190011 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Optic Atrophy |
Optic Atrophy |
LHGDN |
11668429 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Optic Atrophy |
Optic atrophy |
Pubtator |
11668429, 20350831, 20372962, 21036400, 31928268 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Optic Atrophy 1 |
Optic Atrophy |
LHGDN |
15342707 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Atrophy 1 |
Optic Atrophy |
BEFREE |
18496845, 19319978, 21036400, 21349918, 24136862, 25159689 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Atrophy 1 |
Optic Atrophy |
GENOMICS_ENGLAND_DG |
26190011 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT |
Optic Atrophy And Cataract |
CLINVAR_DG |
11668429, 15342707, 24136862, 25159689, 25201222, 26190011 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT |
Optic Atrophy And Cataract |
ORPHANET_DG |
15342707 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT |
Optic Atrophy And Cataract |
UNIPROT_DG |
15342707 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT |
Optic Atrophy And Cataract |
BEFREE |
18985435 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT |
Optic Atrophy And Cataract |
GENOMICS_ENGLAND_DG |
25657044, 27604308 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT |
Optic Atrophy And Cataract |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Atrophy Autosomal Dominant |
Optic atrophy |
Pubtator |
16648378, 18496845, 19319978, 21036400, 35273349 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy Hereditary Leber |
Leber hereditary optic neuropathy |
Pubtator |
19319978, 21036400, 28081242 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
BEFREE |
21036400, 21349918, 22776096, 24051421 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy, Hereditary, Leber |
Hereditary Leber Optic Atrophy |
BEFREE |
18496845, 19319978, 28081242 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Neuropathy |
Optic Neuropathy |
BEFREE |
24051421, 28081242 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
35507809 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paresis |
Paresis |
Pubtator |
31928268 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Peripheral nervous system disease |
Pubtator |
21036400 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posterior subcapsular cataract |
Capsular cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary angle-closure glaucoma |
Angle closure glaucoma |
BEFREE |
18055808 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Deprivation |
Sleep deprivation |
Pubtator |
20372962 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Deprivation |
Sleep deprivation |
Pubtator |
20372962 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
30991875 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vision Disorders |
Visual disorder |
Pubtator |
31928268 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |