| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute lymphocytic leukemia |
Lymphocytic Leukemia |
BEFREE |
26944210 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of pancreas |
Pancreatic adenocarcinoma |
BEFREE |
20299817 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Acute Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
26944210 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agammaglobulinemia |
Agammaglobulinemia |
Pubtator |
35524383 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED |
alpha-Thalassemia Mental Retardation Syndrome, X-Linked |
BEFREE |
26422833 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| AMYOTROPHIC LATERAL SCLEROSIS 1 |
Lateral Sclerosis |
BEFREE |
12153481 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune disease |
Pubtator |
35524383 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Azoospermia |
Azoospermia |
BEFREE |
18177647 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bladder Neoplasm |
Bladder Neoplasm |
BEFREE |
20119625, 28139689 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Platelet Disorders |
Platelet disorder |
Pubtator |
37207862 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
29721043 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
12810637 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
26617690 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Merkel Cell |
Merkel cell carcinoma |
Pubtator |
38170500 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of bladder |
Bladder carcinoma |
BEFREE |
20119625, 28139689 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
12384799, 17229588 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Castleman Disease |
Castleman disease |
Pubtator |
35524383 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| cervical cancer |
Cervical Cancer |
BEFREE |
25168470 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervix carcinoma |
Cervix carcinoma |
BEFREE |
25168470 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Acute Lymphoblastic Leukemia |
Lymphoblastic Leukemia |
BEFREE |
26944210 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choriocarcinoma |
Choriocarcinoma |
BEFREE |
30400387 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Obstructive Airway Disease |
Chronic Obstructive Pulmonary Disease |
BEFREE |
30754998 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
28094304 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic neoplasm |
Pubtator |
28094304 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
19302291, 31289894, 31516596 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
33484626 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Combined immunodeficiency |
Severe combined immunodeficiency disease |
GENOMICS_ENGLAND_DG |
21983175 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Disorders of Glycosylation |
Congenital disorder of glycosylation |
BEFREE |
21614585, 23622397, 31036665 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorders of Glycosylation |
Congenital disorder of glycosylation |
Pubtator |
31036665, 37207862 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorders of Glycosylation |
Congenital disorder of glycosylation |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
9119739 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crohn Disease |
Crohn Disease |
BEFREE |
22783049 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
31086953 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
31086953 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysgammaglobulinemia |
Dysgammaglobulinemia |
BEFREE |
25504528 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
BEFREE |
25376458 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Extrahepatic Cholangiocarcinoma |
Cholangiocarcinoma |
BEFREE |
20720444 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fragile X Syndrome |
Fragile X Syndrome |
BEFREE |
30954995 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gingival Diseases |
Gingival diseases |
Pubtator |
31743516 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
BEFREE |
12027563 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
23538445, 30385739 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
23538445, 30385739 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
31038761 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic Neoplasms |
BEFREE |
16304383, 21960246, 24487414, 29067538 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatitis B |
Hepatitis b |
Pubtator |
20705311 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Huntington Disease |
Huntington Disease |
BEFREE |
15967379 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic Pulmonary Fibrosis |
Pulmonary Fibrosis |
BEFREE |
23492187 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune System Diseases |
Immune system disease |
Pubtator |
31337704 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immunologic Deficiency Syndromes |
Immunologic Deficiency Syndromes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory Bowel Disease |
BEFREE |
22783049 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
LHGDN |
18455129 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
23871722, 31036665 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
24130152, 26422833 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
19298593, 24487414 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
15380346, 27869161 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
24175757, 28036295 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Cirrhosis |
Liver Cirrhosis |
BEFREE |
29538440 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Diseases, Obstructive |
Lung Diseases |
BEFREE |
30754998 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphohistiocytosis Hemophagocytic |
Hemophagocytic lymphohistiocytosis |
Pubtator |
32542393 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphohistiocytosis, Hemophagocytic |
Lymphohistiocytosis |
BEFREE |
28353193 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
BEFREE |
23846901, 24487414, 24550228, 25504528, 29248801, 31402499 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
Pubtator |
23846901, 38170500 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoproliferative Disorders |
Lymphoproliferative syndrome |
Pubtator |
35524383 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoproliferative Syndrome, X-Linked, 2 |
Lymphoproliferative Disorder |
BEFREE |
29743550 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
29721043 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
12384799, 17229588 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
20720442, 20720444, 20720447, 22213040 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
20698994, 25071009, 28981528 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of urinary bladder |
Urinary bladder cancer |
BEFREE |
20119625, 28139689 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
15068902, 15611788, 17573556, 18068526, 18336193, 18931663, 18931692, 19298593, 20299817, 22342104, 24704827, 27424523, 28215531, 28771230, 29371939, 29569123, 30385275, 31176273, 31645676 View all (4 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of cervix |
Cervical Tumor |
BEFREE |
25168470 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Medulloblastoma |
Medulloblastoma |
Pubtator |
21681603 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
14735472, 17168540, 20576118, 22853455 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED 95 |
Mental retardation |
GENOMICS_ENGLAND_DG |
18455129 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucocutaneous Lymph Node Syndrome |
Kawasaki disease |
Pubtator |
35524383 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
BEFREE |
1906605, 26036313 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYELODYSPLASTIC SYNDROME |
Myelodysplastic Syndrome |
BEFREE |
15380346 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelofibrosis |
Myelofibrosis |
BEFREE |
29749399 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloid Leukemia, Chronic |
Myeloid Leukemia |
BEFREE |
28881589 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal carcinoma |
Nasopharyngeal Carcinoma |
BEFREE |
18953427, 20576118 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
12591734, 16327988, 18336193, 20299817, 20698994, 21118954, 24175757, 27129149, 28665401, 29465464, 31173249, 31337704, 31714901, 31815737, 7597142, 9256286 View all (1 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
26575016 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
27129149 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| PACHYONYCHIA CONGENITA 3 |
Pachyonychia Congenita |
BEFREE |
30400387 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
20720442, 20720444, 20720447, 22213040 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma, familial |
Pancreatic carcinoma |
BEFREE |
18497537 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary Myelofibrosis |
Myelofibrosis |
BEFREE |
29749399 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progressive hearing loss stapes fixation |
Hearing loss with stapes fixation |
Pubtator |
32542393 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
20698994, 25071009, 28981528 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
9119739 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Tract Infections |
Respiratory system infectious disease |
Pubtator |
35524383 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdomyosarcoma |
Rhabdomyosarcoma |
BEFREE |
24704827 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma Kaposi |
Sarcoma |
Pubtator |
35524383 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Small Cell Lung Carcinoma |
Small cell lung carcinoma |
Pubtator |
14560006 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinal Muscular Atrophy |
Spinal Muscular Atrophy |
BEFREE |
8552191 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
16080516 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Diseases |
Thyroid Diseases |
BEFREE |
28589091 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Nodule |
Thyroid Nodule |
BEFREE |
29546655, 29569123 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulcerative Colitis |
Ulcerative colitis |
BEFREE |
22783049 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uveal melanoma |
Uveal Melanoma |
BEFREE |
18853322 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vasculitis |
Vasculitis |
Pubtator |
35524383 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |