| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
26687188 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Syndromic microphthalmia |
BEFREE |
31695197 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
26079624 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal recessive isolated optic atrophy |
Optic Atrophy |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Brain atrophy |
Brain atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrovascular accident |
Stroke |
BEFREE |
31439414 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic neoplasm |
Pubtator |
28356157 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
28356157 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
BEFREE |
29490017 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
24556692 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
25092567 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalitis |
Encephalitis |
BEFREE |
31439414 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
19602686 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart failure |
Heart Failure |
BEFREE |
29490017 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hidradenitis Suppurativa |
Hidradenitis suppurativa |
BEFREE |
31688984 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperopia |
Hyperopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukoencephalopathy |
Leukoencephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukopenia |
Leukopenia |
BEFREE |
26932183 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrotia |
Macrotia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
26392082 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Microphthalmos |
Microphthalmos |
BEFREE |
30389680 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
24176854, 27495975 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Multiple Sclerosis |
Multiple Sclerosis |
BEFREE |
30897575 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
29904904, 30859632 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
30859632 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
30859632 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
30859632 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
10843804, 30859632 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutropenia |
Neutropenia |
BEFREE |
26932183 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-alcoholic Fatty Liver Disease |
Non-Alcoholic Fatty Liver Disease |
BEFREE |
29785003 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
BEFREE |
27495975 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic atrophy |
Pubtator |
27495975 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy 1 |
Optic Atrophy |
BEFREE |
28174208, 30544562, 31125351 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| OPTIC ATROPHY 11 |
Optic Atrophy |
GENOMICS_ENGLAND_DG |
27495975, 30544562 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| OPTIC ATROPHY 11 |
Optic Atrophy |
UNIPROT_DG |
27495975 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| OPTIC ATROPHY 11 |
Optic Atrophy |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
36423401 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Ductal Adenocarcinoma |
Pancreatic adenocarcinoma |
BEFREE |
31695197 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
24556692 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
GENOMICS_ENGLAND_DG |
30544562 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Deprivation |
Sleep deprivation |
Pubtator |
24176854 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Deprivation |
Sleep deprivation |
Pubtator |
27495975 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Deprivation |
Sleep deprivation |
Pubtator |
30859632 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia, Hereditary |
Spastic paraplegia |
BEFREE |
10843804 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |