| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute Coronary Syndrome |
Coronary Syndrome |
CTD_human_DG |
21751358 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Dissection |
Aortic dissection |
Pubtator |
32766314 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arrhythmogenic Right Ventricular Dysplasia |
Arrhythmogenic right ventricular cardiomyopathy |
Pubtator |
31843279, 33947203 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
23075332, 27816808 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Rheumatoid |
Rheumatoid arthritis |
Pubtator |
35027076 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
Pubtator |
18509200 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
23075332, 27816808 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Benign Prostatic Hyperplasia |
Benign Prostatic Hyperplasia |
BEFREE |
21294127 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bladder Neoplasm |
Bladder Neoplasm |
BEFREE |
28552713 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Coagulation Disorders |
Blood coagulation disorder |
Pubtator |
21829388 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Platelet Disorders |
Platelet disorder |
Pubtator |
23382103 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
28266545 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
32511274, 9434630 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brugada Syndrome |
Brugada syndrome |
Pubtator |
28373245 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brugada Syndrome (disorder) |
Brugada Syndrome |
BEFREE |
28218286, 28373245 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cap Myopathy |
Cap myopathy |
Pubtator |
27509989 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
21076462, 30022044 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
25033086 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of bladder |
Bladder carcinoma |
BEFREE |
28552713 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
25249619 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
21076462, 24698962, 39626326 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
BEFREE |
16236538, 16712796, 20502710, 26487440, 28218286, 28373245, 30844403, 31483833 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardiomyopathies |
Cardiomyopathy |
Pubtator |
20502710, 26487440, 28373245, 32516855, 33440717, 37477868 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardiomyopathies |
Cardiomyopathy |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardiomyopathies |
Cardiomyopathy |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardiomyopathy Dilated |
Dilated cardiomyopathy |
Pubtator |
22613835, 26458567, 27503891, 31983221, 32516855, 35567849, 37548861 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Hypertrophic |
Hypertrophic cardiomyopathy |
Pubtator |
27503891, 28797094, 33947203, 35567849, 36166435 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy, Dilated |
Cardiomyopathy |
BEFREE |
11815424, 12590266, 16236538, 16712796, 23159629, 26168869 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardiomyopathy, Dilated |
Cardiomyopathy |
CLINVAR_DG |
16949038, 17785437 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardiomyopathy, Dilated |
Cardiomyopathy |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardiomyopathy, Dilated, 1w |
Cardiomyopathy |
UNIPROT_DG |
11815424, 16236538 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardiomyopathy, Dilated, 1w |
Cardiomyopathy |
GENOMICS_ENGLAND_DG |
20186049, 27532257, 28369730 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardiomyopathy, Dilated, 1w |
Cardiomyopathy |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 |
Cardiomyopathy |
UNIPROT_DG |
16712796 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 |
Cardiomyopathy |
GENOMICS_ENGLAND_DG |
20186049, 27532257, 28369730 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 |
Cardiomyopathy |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 |
Cardiomyopathy |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardiomyopathy, Familial Idiopathic |
Cardiomyopathy |
BEFREE |
11815424, 16236538, 16712796, 26458567 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular Diseases |
BEFREE |
19952892, 26487440, 26728462 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular disease |
Pubtator |
26487440 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chagas Disease |
Chagas disease |
Pubtator |
22543060 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholangiocarcinoma |
Cholangiocarcinoma |
Pubtator |
26056085 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colitis Ulcerative |
Ulcerative colitis |
Pubtator |
29027377 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Collecting Duct Carcinoma of the Kidney |
Renal Carcinoma |
BEFREE |
30656488 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
23627409 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
24723436 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
17192196, 24189147 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital contractural arachnodactyly |
Congenital Contractural Arachnodactyly |
BEFREE |
28286026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
21076462, 24698962, 31563285 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crohn Disease |
Crohn disease |
Pubtator |
36444838 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial dilated cardiomyopathy |
Cardiomyopathy |
ORPHANET_DG |
11815424 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial isolated dilated cardiomyopathy |
Dilated Cardiomyopathy |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gastrointestinal Diseases |
Gastrointestinal disease |
Pubtator |
36951252 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
17949236 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
31497348 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
31497348 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
11746774 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Diseases |
Heart disease |
Pubtator |
22543060 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Diseases |
Heart Diseases |
BEFREE |
26168869 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Failure |
Heart failure |
Pubtator |
27503891, 37548861 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hirschsprung Disease |
Hirschsprung disease |
Pubtator |
28342760 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Huntington Disease |
Huntington Disease |
BEFREE |
30768638 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Huntington Disease |
Huntington disease |
Pubtator |
30768638 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertension |
Hypertension |
Pubtator |
26487440 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
26487440, 30502091 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
BEFREE |
16236538, 16712796, 17097056, 30844403 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
LHGDN |
16712796 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
CLINGEN_DG |
16949038, 17097056, 27503891 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Hypertrophic obstructive cardiomyopathy |
Hypertrophic cardiomyopathy |
BEFREE |
16712796 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
23185433 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
38190128 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory Bowel Disease |
BEFREE |
31152332 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Irritable Bowel Syndrome |
Irritable Bowel Syndrome |
BEFREE |
28451914, 30106160, 31152332, 31356481 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoderma, Palmoplantar |
Palmoplantar keratoderma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Left ventricular noncompaction |
Left ventricular noncompaction |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipoatrophy |
Lipoatrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipodystrophy |
Lipodystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
25033086 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Diseases |
Lung disease |
Pubtator |
36951252 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus Systemic |
Systemic lupus erythematosus |
Pubtator |
36309313 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
28266545 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
25249619 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
29913236, 31255446 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
21294127, 25934801, 29137275 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
30989694 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of urinary bladder |
Urinary bladder cancer |
BEFREE |
28552713, 30878701 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
26728462, 29854771, 30947597 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
23627409 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Marfan Syndrome |
Marfan syndrome |
Pubtator |
19720936 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Membranous glomerulonephritis |
Membranous Glomerulonephritis |
BEFREE |
29241625 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MiT family translocation renal cell carcinoma |
Renal Carcinoma |
BEFREE |
30656488 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple Sclerosis |
BEFREE |
12744773 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy, Duchenne |
Duchenne Muscular Dystrophy |
BEFREE |
8263549 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelodysplastic Syndromes |
Myelodysplastic syndrome |
Pubtator |
25969835 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial infarction |
Pubtator |
32736138 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
17709988, 18571811, 21076462, 21294127, 22495828, 30989694, 8639463 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neural Tube Defects |
Neural Tube Defect |
BEFREE |
15345369 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neural Tube Defects |
Neural tube defect |
Pubtator |
33491343 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroendocrine Tumors |
Neuroendocrine Tumors |
BEFREE |
17709988 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroendocrine Tumors |
Neuroendocrine Tumors |
LHGDN |
17709988 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy |
Hypertrophic Cardiomyopathy |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
30947597 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
CTD_human_DG |
18924182 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteoporosis, Age-Related |
Osteoporosis |
CTD_human_DG |
18924182 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis, Senile |
Osteoporosis |
CTD_human_DG |
18924182 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
30367951 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
29913236, 31255446, 31724100 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
17233815 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Post-Traumatic Osteoporosis |
Osteoporosis |
CTD_human_DG |
18924182 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
21294127, 25934801, 29137275 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
18353764, 22531786, 27509989 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
25667921 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Fibrosis |
Pulmonary fibrosis |
Pubtator |
18676875 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Quebec platelet disorder |
Quebec Platelet Disorder |
BEFREE |
19029443 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
21076462, 24698962, 31563285 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdoid Tumor |
Rhabdoid Tumor |
BEFREE |
30656488 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scleroderma Systemic |
Systemic sclerosis |
Pubtator |
36951252 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Apnea Syndromes |
Sleep Apnea |
BEFREE |
28218286 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
30988666 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
30989694 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
32951272, 33535187 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Diseases |
Thyroid disease |
Pubtator |
36951252 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulcerative Colitis |
Ulcerative colitis |
BEFREE |
29027377 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
36357874 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Neoplasms |
Uterine neoplasm |
Pubtator |
23454583 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular hypertrophy |
Ventricular hypertrophy |
BEFREE |
16712796 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |