| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute Promyelocytic Leukemia |
Promyelocytic Leukemia |
BEFREE |
10373566, 15470359, 17823119, 20861261, 22584572, 23770046, 8806687, 9389704 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
30393970, 31489957 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
18675254, 27084229 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic Lateral Sclerosis |
BEFREE |
17823119, 24971881, 28342750 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
Pubtator |
24971881 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anaplasia |
Anaplasia |
BEFREE |
30703554 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Syndromic microphthalmia |
BEFREE |
24654937 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
29969578 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Rheumatoid |
Rheumatoid arthritis |
Pubtator |
17360386, 19565496 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
29969578 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Septal Defects |
Atrial Septal Defect |
BEFREE |
21563299 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Neoplasms |
Brain Neoplasms |
BEFREE |
23078246 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Neoplasms |
Brain neoplasms |
Pubtator |
23078246 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
18179684, 22798505, 25530065 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
17079232 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bronchopulmonary Dysplasia |
Bronchopulmonary Dysplasia |
BEFREE |
29115559 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Embryonal |
Embryonal carcinoma |
Pubtator |
10187798 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
37730133 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
29713182, 30393970 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
27741516 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
30393970, 31489957 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholestasis |
Cholestasis |
BEFREE |
23546875 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Lip |
Cleft lip |
Pubtator |
19137569 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cleft Lip with or without Cleft Palate |
Cleft Lip With Or Without Cleft Palate |
BEFREE |
18983974, 20738159, 21044801, 22492558 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Lip with or without Cleft Palate |
Cleft Lip With Or Without Cleft Palate |
GENOMICS_ENGLAND_DG |
22492558 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Palate |
Cleft palate |
Pubtator |
31262291 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cognition Disorders |
Cognitive disorder |
BEFREE |
29217476 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
23640307 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
37191369 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital heart disease |
Congenital Heart Disease |
BEFREE |
22155005 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
BEFREE |
21900893, 30355233 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
27741516 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
22155005 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dentatorubral-Pallidoluysian Atrophy |
Dentatorubral Pallidoluysian Atrophy |
BEFREE |
12488827 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatomyositis |
Dermatomyositis |
Pubtator |
32033996 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes mellitus |
Pubtator |
34663464 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
15220215 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Retinopathy |
Diabetic Retinopathy |
BEFREE |
29138839 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphism |
Dysmorphism |
BEFREE |
28197921 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Carcinoma |
Endometrial carcinoma |
BEFREE |
26222483, 27230680 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
26222483, 27230680, 34918563 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial Alzheimer Disease (FAD) |
Alzheimer disease |
BEFREE |
18675254 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial partial lipodystrophy |
Partial Lipodystrophy |
BEFREE |
23243001 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontotemporal dementia |
Frontotemporal dementia |
BEFREE |
16401619 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
23078246, 24953629 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
23078246, 32592588 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
23078246, 24953629 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
LHGDN |
15882793 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
32592588, 38167292 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart failure |
Heart Failure |
BEFREE |
21900893, 30355233 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Huntington Disease |
Huntington Disease |
BEFREE |
17823119 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypodontia |
Hypodontia |
ORPHANET_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypodontia |
Hypodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of the maxilla |
Hypoplasia of the maxilla |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic Inflammatory Myopathies |
Inflammatory Myopathy |
BEFREE |
29845587 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic pulmonary arterial hypertension |
Pulmonary arterial hypertension |
BEFREE |
30703554 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
29217476 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Breast Carcinoma |
Breast Cancer |
BEFREE |
26403314 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intraepithelial Neoplasia |
Intraepithelial Neoplasia |
BEFREE |
23350884 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kaposi Sarcoma |
Kaposi Sarcoma |
BEFREE |
28615201 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
LHGDN |
15923626 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Promyelocytic Acute |
Promyelocytic leukemia |
Pubtator |
10187798, 14527952, 16253240, 23770046, 9389704 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
25448401, 9389704 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
20502916, 30277836, 31546024 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver neoplasms |
Liver neoplasms |
BEFREE |
20502916 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Diseases Interstitial |
Lung disease |
Pubtator |
32033996 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
BEFREE |
30659232 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
18179684, 22798505, 25530065 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of endometrium |
Endometrial Cancer |
BEFREE |
26222483, 27230680 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
29393359 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
29713182, 30393970 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
25027693 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
28222440 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
29393359, 30333879, 30393970, 31578236 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
23640307 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
23020131 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma |
Mesothelioma |
Pubtator |
26254420 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma Malignant |
Mesothelioma |
Pubtator |
26254420 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microdontia (disorder) |
Microdontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
Pubtator |
25485683 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloproliferative disease |
Myeloproliferative disorder |
BEFREE |
17027752 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial Infarction |
BEFREE |
29524504 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myopathy |
Myopathy |
BEFREE |
29868881 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
19859084, 20300531, 22713753, 23640307, 29020972, 7949134 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
11020216 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
LHGDN |
16464864 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
29969578 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuronal intranuclear inclusion disease |
Neuronal Intranuclear Inclusion Disease |
BEFREE |
14637113, 31304825 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
19859084, 30043429, 30393970, 31489957 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oligodontia |
Oligodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oligodontia |
Oligodontia |
ORPHANET_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Orofacial Cleft 1 |
Orofacial cleft |
Pubtator |
19937600, 27527345 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| OROFACIAL CLEFT 10 |
Orofacial Cleft |
GENOMICS_ENGLAND_DG |
22492558 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| OROFACIAL CLEFT 10 |
Orofacial Cleft |
CTD_human_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| OROFACIAL CLEFT 5 |
Orofacial Cleft |
GENOMICS_ENGLAND_DG |
16990542 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
10187798, 34232706 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
LHGDN |
17976381 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
30226577 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
16443219 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary hyperoxaluria, type I |
Hyperoxaluria |
BEFREE |
15470359 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
25027693 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
LHGDN |
17932034 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
26202067 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary arterial hypertension |
Pulmonary arterial hypertension |
BEFREE |
30703554 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
10728754, 17360386, 19565496, 23417988, 30562482, 30681271 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
LHGDN |
17360386 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
Pubtator |
26254420 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
BEFREE |
12950712 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Apnea Obstructive |
Sleep apnea |
Pubtator |
26636516 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Apnea, Obstructive |
Sleep Apnea |
BEFREE |
26636516 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinocerebellar Ataxia Type 7 |
Spinocerebellar Ataxia |
BEFREE |
19843541 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
LHGDN |
17671677 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
23350884 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
26152289, 38186303 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of lung |
Lung carcinoma |
BEFREE |
31489957 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of mouth |
Oral cavity carcinoma |
BEFREE |
26400283 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
28222440 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
28222440, 29060933 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Systemic Scleroderma |
Scleroderma |
BEFREE |
22904261 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
36227136 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
BEFREE |
21563299 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vitiligo |
Vitiligo |
BEFREE |
30066925 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) |
Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS |
BEFREE |
30066925 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Waldenstrom Macroglobulinemia |
Waldenstrom macroglobulinemia |
Pubtator |
25485683 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Werner Syndrome |
Werner Syndrome |
BEFREE |
10806190 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |