| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute lymphocytic leukemia |
Lymphocytic Leukemia |
BEFREE |
28225754 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute Promyelocytic Leukemia |
Promyelocytic Leukemia |
BEFREE |
12032336, 9256429, 9765306, 9989813 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
29764865 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia Sickle Cell |
Sickle cell anemia |
Pubtator |
30082871 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ankylosing spondylitis |
Ankylosing Spondylitis |
BEFREE |
9619899 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
BEFREE |
12645858 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
Pubtator |
37802634 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
Pubtator |
21143702 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia Telangiectasia |
Ataxia Telangiectasia |
BEFREE |
23652012 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia Telangiectasia |
Ataxia telangiectasia |
Pubtator |
23652012 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| B-Cell Lymphomas |
B-Cell Lymphoma |
BEFREE |
20385356, 27856253 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Benign adult familial myoclonic epilepsy |
Benign Myoclonic Epilepsy |
BEFREE |
30559482 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bicuspid Aortic Valve Disease |
Bicuspid aortic valve |
Pubtator |
36071494 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bipolar Disorder |
Bipolar Disorder |
BEFREE |
15635693 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Neoplasms |
Bone neoplasm |
Pubtator |
35181586 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
10589759, 10690532, 16886664, 19904269, 20003447, 20392877, 23015261, 23117886, 24971610, 25363551, 29023534, 29420220 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
19183483, 19904269, 20003447, 20392877, 23015261, 24971610, 29023534, 35618935 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
16434963, 30680848 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Intraductal Noninfiltrating |
Intraductal noninfiltrating carcinoma |
Pubtator |
22887771 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Ovarian Epithelial |
Epithelial ovarian carcinoma |
Pubtator |
37131060 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
Pubtator |
32196466 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carney Complex |
Carney Complex |
BEFREE |
28225754 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central hypothyroidism |
Central hypothyroidism |
BEFREE |
29794369 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Combined immunodeficiency |
Severe combined immunodeficiency disease |
GENOMICS_ENGLAND_DG |
3464003 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
BEFREE |
24667120 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
15334463 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 1 |
Diabetes mellitus, type 1 |
Pubtator |
24204704 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
1982251 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
21109196 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diffuse Large B-Cell Lymphoma |
Diffuse Lymphoma |
BEFREE |
17545502 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| DiGeorge Syndrome |
Digeorge syndrome |
Pubtator |
31830774 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Hyperplasia |
Endometrial Hyperplasia |
BEFREE |
14601091 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
34763648 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial Primary Pulmonary Hypertension |
Pulmonary hypertension |
Pubtator |
36899621 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibroid Tumor |
Leiomyoma |
BEFREE |
19416222 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized Thyroid Hormone Resistance |
Thyroid Hormone Resistance |
BEFREE |
11061510 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Giant Cell Tumor of Bone |
Giant cell tumor of bone |
Pubtator |
35181586 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
24244722 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
32945237 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
24244722 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
20957337, 21143702 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glomerulonephritis IGA |
Iga nephropathy |
Pubtator |
19470682 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Diseases |
Heart disease |
Pubtator |
35748249 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hodgkin Disease |
Hodgkin Disease |
BEFREE |
15930272, 2323775 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypereosinophilia |
Hypereosinophilia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
BEFREE |
10803578 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| IGA Glomerulonephritis |
Glomerulonephritis |
BEFREE |
19470682 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immunologic Deficiency Syndromes |
Immunologic Deficiency Syndromes |
BEFREE |
21083371 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
10544023 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
15729358 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Promyelocytic Acute |
Promyelocytic leukemia |
Pubtator |
9256429, 9765306 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, T-Cell |
T-cell leukemia |
BEFREE |
22553924 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
30680848 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, Non-Hodgkin |
Non-Hodgkin lymphoma |
BEFREE |
15930272 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, Non-Hodgkin, Familial |
Lymphoma |
BEFREE |
15930272 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
10589759, 10690532, 16886664, 19904269, 20003447, 20392877, 23015261, 23117886, 24971610, 25363551, 29023534, 29420220 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
16886664, 20466759, 20568894, 21178266, 21720703, 22695118 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
20187983 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
16886664, 29674510, 29764865 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
10589759, 11916237, 19904269, 20392877 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
LHGDN |
14715875, 15802375, 17902051 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma Cutaneous Malignant |
Melanoma |
Pubtator |
25953768 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental disorders |
Mental Disorders |
BEFREE |
27468165 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Diseases |
Metabolic Diseases |
BEFREE |
21109196 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
BEFREE |
19417136 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Multiple Myeloma |
Multiple myeloma |
Pubtator |
34864816 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Muscular Atrophy Spinal |
Spinal muscular atrophy |
Pubtator |
25821969 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial Infarction |
GWASDB_DG |
21211798 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myotonic Dystrophy |
Myotonic dystrophy |
Pubtator |
34371182 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Narcolepsy |
Narcolepsy |
BEFREE |
22177342 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
10589759, 12682631, 15300237, 16886664, 21901538, 22695118, 28225754, 8631023 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
10094499 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
10094499, 21212796 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Noninfiltrating Intraductal Carcinoma |
Ductal carcinoma |
BEFREE |
10690532 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
23221346, 33198820 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity, Morbid |
Obesity |
BEFREE |
23221346 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oestrogen receptor positive breast cancer |
Oestrogen Receptor Positive Breast Cancer |
BEFREE |
19904269 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis |
Osteoarthritis |
Pubtator |
15334463 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteoarthritis Knee |
Osteoarthritis |
Pubtator |
16453284 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
31973910, 37131060, 37512088 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Kidney Autosomal Dominant |
Polycystic kidney disease |
Pubtator |
29687770 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Kidney, Autosomal Dominant |
Polycystic kidney disease |
BEFREE |
29687770 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic ovary syndrome |
Pubtator |
31089932 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE |
Bartsocas-Papas syndrome |
BEFREE |
31410520 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma |
Lymphoblastic Leukemia |
BEFREE |
10361104 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Premature aging syndrome |
Premature aging |
BEFREE |
21109196 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
16886664, 20466759, 20568894, 21178266, 21720703, 22695118 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
LHGDN |
15300237 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
15300237, 21178266, 35286517 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Arterial Hypertension |
Pulmonary arterial hypertension |
Pubtator |
35960497 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rett Syndrome |
Rett Syndrome |
BEFREE |
12967552 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rett Syndrome |
Rett syndrome |
Pubtator |
28348241 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdomyosarcoma |
Rhabdomyosarcoma |
BEFREE |
15935573 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
9259417, 9336413 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seckel syndrome 1 |
Seckel syndrome |
Pubtator |
40114033 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sezary Syndrome |
Sezary Syndrome |
BEFREE |
21410672 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinal Muscular Atrophy |
Spinal Muscular Atrophy |
BEFREE |
25821969 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
27349552, 29470550 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of the head and neck |
Carcinoma Of The Head And Neck |
BEFREE |
29470550 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
20187983 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach Neoplasms |
BEFREE |
20187983 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
32373223, 35039565 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| T-Cell Prolymphocytic Leukemia |
T-Cell Prolymphocytic Leukemia |
BEFREE |
26493028 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY |
T-Cell Receptor Alpha/Beta Deficiency |
ORPHANET_DG |
21206088 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY |
T-Cell Receptor Alpha/Beta Deficiency |
GENOMICS_ENGLAND_DG |
3464003 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY |
T-Cell Receptor Alpha/Beta Deficiency |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY |
T-Cell Receptor Alpha/Beta Deficiency |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| TCR-alpha-beta-positive T-cell deficiency |
T-Cell Receptor Alpha/Beta Deficiency |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
32940102 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Fibroids |
Uterine Fibroids |
BEFREE |
19416222 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |