| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
18491353 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyloidosis |
Amyloidosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyloidosis Primary Cutaneous |
Amyloidosis |
Pubtator |
18179886, 19690585, 25054142, 35714449 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyloidosis, Primary Cutaneous |
Amyloidosis |
BEFREE |
18179886, 19690585, 22062952, 25054142, 26356818, 30734345 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyloidosis, Primary Cutaneous |
Amyloidosis |
GENOMICS_ENGLAND_DG |
18179886 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 |
Amyloidosis |
GENOMICS_ENGLAND_DG |
18179886 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 |
Amyloidosis |
UNIPROT_DG |
18179886, 19690585 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 |
Amyloidosis |
ORPHANET_DG |
20507362 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 |
Amyloidosis |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Ankylosing spondylitis |
Ankylosing Spondylitis |
GWASCAT_DG |
26974007 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Syndromic microphthalmia |
BEFREE |
28053127 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
28258089 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis |
Arthritis |
Pubtator |
24219225 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Rheumatoid |
Rheumatoid arthritis |
Pubtator |
24219225 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
Pubtator |
26956917 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
28258089 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
30134804 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bladder Neoplasm |
Bladder Neoplasm |
BEFREE |
30755233 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Neoplasms |
Brain Neoplasms |
BEFREE |
27110918 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
22267707 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
30755233 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
20187983 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
21508378 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
17028186, 30945699 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of bladder |
Bladder carcinoma |
BEFREE |
30755233 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
32615164 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
23765377, 28025425, 35289095 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular Diseases |
BEFREE |
28258089 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholangitis, Sclerosing |
Cholangitis |
GWASCAT_DG |
26974007 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis Ulcerative |
Ulcerative colitis |
Pubtator |
36232773 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
19662090, 21508378 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
21508378, 27943272 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
19662090, 30755233, 36232773 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Disease |
Coronary artery disease |
Pubtator |
36060667 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crohn Disease |
Crohn Disease |
GWASCAT_DG |
26192919, 26974007, 28067908 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crohn Disease |
Crohn disease |
Pubtator |
33624092 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cutis Laxa |
Cutis Laxa |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatologic disorders |
Dermatologic Disorders |
BEFREE |
29858547 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
39342401 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ectodermal Dysplasia Anhidrotic with Immunodeficiency Osteopetrosis and Lymphedema |
Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema |
Pubtator |
27023521 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Enterocolitis |
Enterocolitis |
Pubtator |
33917126 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial Amyloid Polyneuropathy, Type V |
Amyloid Polyneuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial lichen amyloidosis |
Lichen amyloidosis |
BEFREE |
19690585 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial lichen amyloidosis |
Lichen amyloidosis |
ORPHANET_DG |
20507362 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial lichen amyloidosis |
Lichen amyloidosis |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial medullary thyroid carcinoma |
Medullary thyroid carcinoma |
BEFREE |
26356818 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial medullary thyroid carcinoma |
Thyroid cancer |
Pubtator |
26356818 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial primary localized cutaneous amyloidosis |
Localized Cutaneous Amyloidosis |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
17028186, 30382873, 35429411, 36193073 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
25748242, 27110918, 30693511 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
25748242 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
25748242, 27110918, 30693511 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
27023521, 35144680 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
30693511 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hirschsprung Disease |
Hirschsprung disease |
Pubtator |
33917126 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory Bowel Disease |
GWASCAT_DG |
26192919, 28067908 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory bowel disease |
Pubtator |
33930428 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure, Acute |
Kidney Failure |
BEFREE |
30684280 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
GWASCAT_DG |
30945673, 30945699 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus Systemic |
Systemic lupus erythematosus |
Pubtator |
24219225 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus, Systemic |
Lupus Erythematosus |
BEFREE |
24219225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
Pubtator |
21088137 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant mesothelioma |
Malignant Mesothelioma |
CTD_human_DG |
25756049 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
22267707, 24659184 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
30778797 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of urinary bladder |
Urinary bladder cancer |
BEFREE |
30755233 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
24659184, 30693511 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
19662090, 21508378 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
12706106 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
17028186 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanosis |
Melanosis |
BEFREE |
19594765 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma |
Mesothelioma |
Pubtator |
27605433 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metastatic melanoma |
Metastatic Melanoma |
BEFREE |
16909117 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Endocrine Neoplasia Type 2a |
Multiple Endocrine Neoplasia |
BEFREE |
29420094 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
Pubtator |
34422217 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
17516585, 27110918 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
CTD_human_DG |
15496427 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
33591944 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatitis |
Pancreatitis |
Pubtator |
36671463 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
30755233 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
30431059 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pruritus |
Pruritus |
Pubtator |
18179886, 22041865, 25054142 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pruritus |
Pruritus |
Pubtator |
27001482 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psoriasis |
Psoriasis |
GWASCAT_DG |
26974007 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
24219225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scleroderma Diffuse |
Scleroderma |
Pubtator |
29858547 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sjogren's Syndrome |
Sjogren syndrome |
Pubtator |
24219225 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Diseases |
Skin disease |
Pubtator |
29858547 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
21394648, 29205362, 29473175 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
12706106, 21394648 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
30778797 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
20187983, 33851342 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Systemic Scleroderma |
Scleroderma |
BEFREE |
29858547 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
30755233 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulcerative Colitis |
Ulcerative colitis |
GWASCAT_DG |
26192919, 26974007 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
30755233 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
18559093 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular Diseases |
Vascular disease |
Pubtator |
32736577 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |