| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Amaurosis congenita of Leber, type 1 |
Leber congenital amaurosis |
BEFREE |
28453600 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY |
Bietti Crystalline Dystrophy |
BEFREE |
15042513, 15860296, 15937078, 16088246, 16179904, 16186368, 17013694, 17249554, 17962476, 18398705, 19508456, 19797200, 21385027, 21565171, 21850171, 22605929, 22693542, 22772592, 23221965, 23242590, 23538635, 23793346, 24739949, 25593508, 26521715, 26971461, 27028354, 27658286, 28051075, 28453600, 28763560, 29691984, 30400328, 31557820, 31638456 View all (20 more) |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY |
Bietti Crystalline Dystrophy |
CLINVAR_DG |
15042513, 15860296, 15937078, 17962476, 19508456, 21565171, 22693542, 22772592, 23661369, 23793346, 24739949, 25356976, 25593508, 25611614, 25629076, 26085992, 26865810, 26971461, 28051075 View all (4 more) |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY |
Bietti Crystalline Dystrophy |
ORPHANET_DG |
15042513, 21565171 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY |
Bietti Crystalline Dystrophy |
UNIPROT_DG |
15042513, 22772592 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY |
Bietti Crystalline Dystrophy |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY |
Bietti Crystalline Dystrophy |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Bietti Crystalline Dystrophy |
Bietti crystalline corneoretinal dystrophy |
Pubtator |
15042513, 15937078, 16179904, 19508456, 21385027, 21850171, 22605929, 22693542, 22772592, 23221965, 24480711, 24739949, 25593508, 27028354, 27658286, 28051075, 28763560, 29691984, 30429639, 31741654, 32799831, 33857831, 34068831, 34880593, 35680963, 35791149, 35814500, 36320086, 36729610, 36795063, 38616116, 40296824 View all (17 more) |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bietti crystalline dystrophy |
Bietti Crystalline Dystrophy |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Butterfly-shaped pigmentary macular dystrophy |
Macular dystrophy, patterned |
BEFREE |
28453600 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
30280198 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Infarction |
Ischemic stroke |
Pubtator |
36437455 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chorioretinal atrophy |
Chorioretinal atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choroidal Neovascularization |
Choroidal neovascularization |
Pubtator |
21850171, 24739949, 27028354, 32799831 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
21734808 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Disease |
Coronary artery disease |
Pubtator |
38066650 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deep Vein Thrombosis |
Thrombosis |
BEFREE |
18349091, 19583818 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes mellitus |
Pubtator |
38066650 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
30956117 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
30956117 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Disorder of eye |
Disorder Of Eye |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hodgkin Disease |
Hodgkin Disease |
BEFREE |
31724191 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperlipidemias |
Hyperlipidemia |
Pubtator |
23221965 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertension |
Hypertension |
Pubtator |
38066650 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
BEFREE |
31724191 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, Follicular, Grade 1 |
Lymphoma |
BEFREE |
31724191 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
29300693 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Marginal corneal dystrophy |
Marginal corneal dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Complex II Deficiency |
Mitochondrial complex deficiency |
Pubtator |
31308404 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucosa-Associated Lymphoid Tissue Lymphoma |
Mucosa-associated lymphoma |
BEFREE |
31724191 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy Facioscapulohumeral |
Facioscapulohumeral muscular dystrophy |
Pubtator |
19888305 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
15897573, 30280198 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
36795063 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paraganglioma |
Paraganglioma |
Pubtator |
27659016 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Detachment |
Retinal detachment |
Pubtator |
34068831 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Diseases |
Retinal detachment |
Pubtator |
21385027, 29691984, 35621151, 35680963 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
BEFREE |
22693542, 27658286, 28763560 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Retinitis Pigmentosa |
Retinitis pigmentosa |
Pubtator |
22693542, 27658286, 28763560, 31960602, 33946315, 35814500, 40296824 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
CLINVAR_DG |
24480711 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
31292709 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinal Muscular Atrophy |
Spinal Muscular Atrophy |
BEFREE |
9153454 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Testicular Hydrocele |
Testicular Hydrocele |
BEFREE |
30604623 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thrombophilia hereditary |
Thrombophilia |
Pubtator |
24397802 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Venous Thromboembolism |
Venous thromboembolism |
Pubtator |
19278955, 36437455 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Venous Thrombosis |
Venous thrombosis |
Pubtator |
18349091, 30168256 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vision Disorders |
Visual disorder |
Pubtator |
15937078, 29691984, 34880593, 35621151, 35814500 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |