| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute Erythroblastic Leukemia |
Erythroblastic Leukemia |
BEFREE |
28199114 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute lymphocytic leukemia |
Lymphocytic Leukemia |
BEFREE |
14618619 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute monocytic leukemia |
Monocytic Leukemia |
BEFREE |
19288261 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenoma |
Adenoma |
BEFREE |
29539651, 29776746, 30308546 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenocortical Carcinoma |
Adrenocortical carcinoma |
Pubtator |
25691058 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Acute Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
14618619 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anaplasia |
Anaplasia |
BEFREE |
30198788 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
BEFREE |
16197474, 17996583, 19862939 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Fibrillation |
Atrial fibrillation |
Pubtator |
35003319 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Auditory neuropathy |
Auditory neuropathy |
Pubtator |
28965846 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| AUDITORY NEUROPATHY AND OPTIC ATROPHY |
Auditory Neuropathy-Optic Atrophy Syndrome |
UNIPROT_DG |
28965846 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUDITORY NEUROPATHY AND OPTIC ATROPHY |
Auditory Neuropathy-Optic Atrophy Syndrome |
GENOMICS_ENGLAND_DG |
28965846 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUDITORY NEUROPATHY AND OPTIC ATROPHY |
Auditory Neuropathy-Optic Atrophy Syndrome |
ORPHANET_DG |
28965846 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUDITORY NEUROPATHY AND OPTIC ATROPHY |
Auditory Neuropathy-Optic Atrophy Syndrome |
CLINVAR_DG |
28965846 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Auditory neuropathy-optic atrophy syndrome |
Auditory Neuropathy-Optic Atrophy Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Breast adenocarcinoma |
Breast Adenocarcinoma |
BEFREE |
28782465, 30245967 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
14692651, 15183541, 17036319, 17725099, 20387147, 22051041, 23941826, 24866720, 25481438, 25818003, 26842910, 27581212, 27758045, 28329693, 28478351, 28688213, 29257222, 29416762, 29606866, 29773888, 30140154, 30532538, 30537505, 30648523, 30844143, 31444414, 31660085, 8787680 View all (13 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
1309222 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
26814892, 36225932 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular Diseases |
BEFREE |
21289629 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Acute Lymphoblastic Leukemia |
Lymphoblastic Leukemia |
BEFREE |
14618619 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood asthma |
Asthma |
BEFREE |
19862939 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
30532537 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic Neoplasms |
BEFREE |
14559799 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
29340817 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
11590433 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
BEFREE |
30844728 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cushing Syndrome |
Cushing`s Syndrome |
BEFREE |
29440375, 29574994 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
BEFREE |
29304089 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
30429496 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma, Open-Angle |
Glaucoma |
BEFREE |
30198788 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
8787680 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
8787680 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
2294193 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss Sensorineural |
Hearing loss |
Pubtator |
33938912 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart failure |
Heart Failure |
BEFREE |
30844728 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Diseases |
Hematologic disease |
Pubtator |
37676284 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Breast and Ovarian Cancer Syndrome |
Hereditary breast and ovarian cancer syndrome |
Pubtator |
26492917 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary hemochromatosis |
Hereditary Hemochromatosis |
BEFREE |
27105509 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary motor and sensory neuropathy with optic atrophy (disorder) |
Hereditary Motor And Sensory Neuropathy With Optic Atrophy |
BEFREE |
30250212 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Sensory and Autonomic Neuropathies |
Hereditary sensory and autonomic neuropathy |
Pubtator |
28965846 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
11775127 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intestinal Diseases |
Intestinal Diseases |
BEFREE |
18511740 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Iron Overload |
Iron overload |
Pubtator |
22101253, 28965846 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Iron Overload |
Iron Overload |
BEFREE |
28965846 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Irritable Bowel Syndrome |
Irritable Bowel Syndrome |
BEFREE |
18511740 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
11172691, 15878840, 28927751 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
19288261, 28042875 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukopenia |
Leukopenia |
BEFREE |
29071720 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipoid congenital adrenal hyperplasia |
Congenital lipoid adrenal hyperplasia |
Pubtator |
1661294 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
15962362, 30850969 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Low Tension Glaucoma |
Low Tension Glaucoma |
BEFREE |
20705341 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
21489244 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
14692651, 15183541, 17036319, 17725099, 20387147, 22051041, 23941826, 24866720, 25481438, 25818003, 26842910, 27581212, 27758045, 28329693, 28478351, 28688213, 29257222, 29416762, 29606866, 29773888, 30140154, 30532538, 30537505, 30648523, 30844143, 31444414, 31660085, 8787680 View all (13 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
31173853 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
16406853, 20444629, 23852809, 28815573, 29795767, 30054832 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
30532537 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
27769887 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Milroy Disease |
Milroy Disease |
BEFREE |
28199114 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
28965846 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| MOHR-TRANEBJAERG SYNDROME |
MOHR-TRANEBJAERG SYNDROME |
BEFREE |
31411235 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple Sclerosis |
BEFREE |
30701416 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple sclerosis |
Pubtator |
38178798 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloid Leukemia |
Myeloid Leukemia |
BEFREE |
28529625 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
BEFREE |
29020356 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
16528528, 19067123, 27250110, 27943612, 28115844, 28199114, 28243082, 29179722, 29519418, 29618203, 29694920, 29719378, 29958912, 30251407, 30349304, 31095914, 31132609, 31141733, 31332290, 31408695, 31465208, 31495855 View all (7 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
28886198 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
28886198 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuropathy |
Neuropathy |
BEFREE |
28965846 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
10954027, 11808891 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ocular Hypertension |
Ocular Hypertension |
BEFREE |
30198788 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic atrophy |
Pubtator |
28965846, 33938912 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Atrophy |
Optic Atrophy |
BEFREE |
29040572 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Parkinson Disease |
Parkinson disease |
BEFREE |
31429849 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pediatric Obesity |
Childhood obesity |
BEFREE |
11808891 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic ovary syndrome |
Pubtator |
37445796 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Presenile dementia |
Senile Dementia |
BEFREE |
29304089 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis pigmentosa |
Pubtator |
22436252 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rod-Cone Dystrophy |
Rod-cone dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rotator cuff syndrome |
Rotator cuff syndrome |
BEFREE |
28483431 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schwartz-Jampel Syndrome |
Schwartz-Jampel Syndrome |
BEFREE |
21342226 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Secondary malignant neoplasm of colon and/or rectum |
Colorectal Neoplasms |
BEFREE |
16528528 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Small cell carcinoma of lung |
Lung carcinoma |
BEFREE |
1310401, 15816546 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stevens-Johnson Syndrome |
Stevens-Johnson Syndrome |
BEFREE |
21342226 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum |
Stevens-Johnson Syndrome |
BEFREE |
28483310 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
28498440, 31173853 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Toxic Epidermal Necrolysis |
Stevens-Johnson Syndrome |
BEFREE |
21342226 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |