| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adrenocortical Carcinoma |
Adrenocortical carcinoma |
Pubtator |
33746977, 35529270 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult T-Cell Lymphoma/Leukemia |
T-Cell Lymphoma/Leukemia |
CTD_human_DG |
26437031 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
40183343 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic Lateral Sclerosis |
BEFREE |
24612671, 26728149, 27773581, 28389532, 28389692, 28980860, 29131108, 29203801, 29358076 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Amyotrophic Lateral Sclerosis |
Amyotrophic Lateral Sclerosis |
GENOMICS_ENGLAND_DG |
27773581 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
Pubtator |
29358076, 35355568 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Amyotrophic Lateral Sclerosis |
Amyotrophic Lateral Sclerosis |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Anaplasia |
Anaplasia |
BEFREE |
20604928 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Syndromic microphthalmia |
BEFREE |
24998203 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aphasia |
Aphasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Behcet Syndrome |
Behcet Syndrome |
BEFREE |
25925770, 28850024 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bladder Neoplasm |
Bladder Neoplasm |
BEFREE |
31593555 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases |
Bone disease |
Pubtator |
36451863 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain atrophy |
Brain atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Neoplasms |
Brain Neoplasms |
LHGDN |
15147968 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
11510693, 28351333 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
31263129 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
34273466, 35529270 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
37308993, 38070488, 8631886 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
29774077, 35529270 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
32631107 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of bladder |
Bladder carcinoma |
BEFREE |
31593555 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
10197602, 11714531, 12871776, 12871781, 20716340, 20807810, 25483567, 26774881, 28638733, 28831131, 8631886, 9761751, 9815620 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
33628845 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Small Cell |
Small cell carcinoma |
Pubtator |
12871776 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
10874220, 35529270 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| cervical cancer |
Cervical Cancer |
BEFREE |
29328485 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cervix carcinoma |
Cervix carcinoma |
BEFREE |
29328485 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholangiocarcinoma |
Cholangiocarcinoma |
Pubtator |
39615627 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
33213490, 35279145, 39810713 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
37716979 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
20978319, 21547579 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cranial nerve compression |
Cranial nerve compression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crohn Disease |
Crohn disease |
Pubtator |
36595818 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depression Postpartum |
Major depressive disorder |
Pubtator |
34856750 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 1 |
Diabetes mellitus, type 1 |
Pubtator |
36457997 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal myopathy Nonaka type |
Distal myopathy |
Pubtator |
34291734 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down Syndrome |
BEFREE |
11771750 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down Syndrome |
LHGDN |
11771750 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyscalculia |
Dyscalculia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endocrine System Diseases |
Endocrine system disease |
Pubtator |
31263129, 34273466 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
34347888, 35731272 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
Pubtator |
33232273, 36672827 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
35529270 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
10874220, 34054840 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fabry Disease |
Fabry disease |
BEFREE |
27595546 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver |
Fatty Liver |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontotemporal dementia |
Frontotemporal dementia |
BEFREE |
29131108, 29358076 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Frontotemporal Dementia |
Frontotemporal dementia |
Pubtator |
29358076 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Frontotemporal dementia |
Frontotemporal dementia |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Frontotemporal Lobar Degeneration |
Frontotemporal dementia |
BEFREE |
28980860 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gallbladder Neoplasms |
Gallbladder neoplasm |
Pubtator |
37142981 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastric Adenocarcinoma |
Gastric Cancer |
BEFREE |
21175803 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Neoplasms |
Gastrointestinal neoplasm |
Pubtator |
35794744 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized amyotrophy |
Amyotrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
21586613, 31283707 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
35558067, 36810326 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
21586613, 31283707 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
10441480, 29547514, 34432221, 38070488 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Neoplasms |
Head and neck neoplasm |
Pubtator |
32669614 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
Pubtator |
10441480 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
10441480 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
36810326 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA |
Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia |
ORPHANET_DG |
23455423 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA |
Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 |
Inclusion Body Myopathy With Paget Disease With Or Without Frontotemporal Dementia |
UNIPROT_DG |
23455423 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 |
Inclusion Body Myopathy With Paget Disease With Or Without Frontotemporal Dementia |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia |
Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Neoplasms |
Kidney neoplasm |
Pubtator |
32826868 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Language Disorders |
Language Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipoma |
Lipoma |
Pubtator |
36870688 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
20604928, 22372738, 24572810, 29774077 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Neoplasms |
Liver neoplasm |
Pubtator |
28542905, 29358076 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung diseases |
Lung Diseases |
BEFREE |
18513434 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
10874220, 12871776, 19609729, 20716340, 24246049, 36262980 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung Neoplasms |
BEFREE |
11714531, 24246049 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung Neoplasms |
LHGDN |
17067748, 18461365 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
19414390, 8631886 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus Systemic |
Systemic lupus erythematosus |
Pubtator |
16859514 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic Metastasis |
BEFREE |
31593555 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
11510693, 28351333 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
20604928 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
10197602, 11714531, 12871781, 20716340, 20807810, 25483567, 26774881, 28638733, 28831131, 8631886, 9761751, 9815620 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
21642356, 22622045, 24998203 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
24823909 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
21175803 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of urinary bladder |
Urinary bladder cancer |
BEFREE |
31593555 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
20010808, 20807810, 24823909, 28351333 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of cervix |
Cervical Tumor |
BEFREE |
29328485 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Motor Neuron Disease |
Motor Neuron Disease |
BEFREE |
28343865 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Motor Neuron Disease |
Motor neuron disease |
Pubtator |
36515702 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
Pubtator |
28086949, 33649796, 33794982, 36177774, 36401285, 36451863 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophies, Limb-Girdle |
Limb-Girdle Muscular Dystrophy |
BEFREE |
26744327 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy |
Muscular dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy Duchenne |
Duchenne muscular dystrophy |
Pubtator |
25662218 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy, Oculopharyngeal |
Oculopharyngeal Muscular Dystrophy |
LHGDN |
12945950 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloid Leukemia, Chronic |
Myeloid Leukemia |
BEFREE |
14961028 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial infarction |
Pubtator |
36061306 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
BEFREE |
26744327, 29131108 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myositis |
Myositis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myositis Inclusion Body |
Myositis |
Pubtator |
26785370 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal carcinoma |
Nasopharyngeal Carcinoma |
BEFREE |
31099048 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
17067748, 20978319, 21175803, 21547579, 21586613, 22372738, 24998203, 26774881, 28077929, 28993733, 29328485 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
21321999 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
38331110 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
25375143, 34291734 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
24920338, 27920024, 30660504 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
11714531, 12871776, 17067748, 26774881, 29509247 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NONAKA MYOPATHY |
Inclusion body myopathy |
BEFREE |
26744327 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteitis Deformans |
Paget disease |
BEFREE |
28389692, 29131108 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
34187307, 35343831, 36259156, 36670423 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
21642356, 22622045, 24998203, 28077929 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Ductal Adenocarcinoma |
Pancreatic adenocarcinoma |
BEFREE |
22622045 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pick Disease of the Brain |
Pica |
BEFREE |
29131108, 29358076 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prion Diseases |
Prion disease |
Pubtator |
28542905 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
24823909 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
BEFREE |
17671502 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
24823909, 30307468, 32710725, 33273988, 37208565 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
36808722 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
LHGDN |
12097415 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Small Cell Lung Carcinoma |
Small cell lung carcinoma |
Pubtator |
19414390 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
10874220, 37539565 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steatohepatitis |
Fatty Liver |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
21175803 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
20440860, 26805816, 35529270, 37256823 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thymoma |
Thymoma |
BEFREE |
24998203 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
24013563 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |