| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute Confusional Senile Dementia |
Senile Dementia |
CTD_human_DG |
28714976 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute lymphocytic leukemia |
Lymphocytic Leukemia |
BEFREE |
27758892 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenomatous Polyposis Coli |
Multiple polyposis syndrome |
BEFREE |
18784435 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Diffuse Large B-Cell Lymphoma |
B-cell Lymphoma |
BEFREE |
25012946 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agammaglobulinemia |
Agammaglobulinemia |
Pubtator |
32671674 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Age related macular degeneration |
Age-related macular degeneration |
BEFREE |
31560769 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Allergic rhinitis (disorder) |
Allergic rhinitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
28714976, 30258121, 30326945, 31131421, 32166339, 32894242, 33092647, 33239300, 34099642, 34615897, 35895133, 36530083, 36933698, 40528303 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
33092647 |
Inhibit |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Alzheimer Disease, Early Onset |
Alzheimer disease |
CTD_human_DG |
28714976 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease, Late Onset |
Alzheimer disease |
CTD_human_DG |
28714976 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease, Late Onset |
Alzheimer disease |
BEFREE |
30711010 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer`s Disease |
Alzheimer disease |
CTD_human_DG |
28714976 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer`s Disease, Focal Onset |
Alzheimer disease |
CTD_human_DG |
28714976 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
Pubtator |
31131421 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anovulation |
Anovulation |
Pubtator |
40287692 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Aneurysm Abdominal |
Aortic aneurysm |
Pubtator |
25993291 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Psoriatic |
Psoriatic arthritis |
Pubtator |
36113963 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
Pubtator |
32186396 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorder |
Autism |
Pubtator |
35773312 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
22236196, 31633221 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune disease |
Pubtator |
22236196, 36933698 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
GENOMICS_ENGLAND_DG |
22236196, 23000145, 29538758 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
ORPHANET_DG |
23000145 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
UNIPROT_DG |
23000145 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
BEFREE |
30619256 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Autoinflammatory disorder |
Autoinflammatory Disease |
GENOMICS_ENGLAND_DG |
29538758 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Platelet Disorders |
Platelet disorder |
Pubtator |
20525309, 29436605, 31163690, 31889510 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
24080446, 26275715 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
24080446 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bronchiolitis |
Bronchiolitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Burkitt Lymphoma |
Burkitt lymphoma |
Pubtator |
28465297 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Burkitt Lymphoma |
Burkitt`s Lymphoma |
BEFREE |
29371955 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Basal Cell |
Basal cell carcinoma |
Pubtator |
36253891 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
35276058, 36530957 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cherubism |
Cherubism |
BEFREE |
24916406 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Infantile Neurological, Cutaneous, and Articular Syndrome |
Neurological, Cutaneous And Articular Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
17804547, 24489640, 24869598, 25972157, 26182309, 27542411, 27903679, 28049639, 28212557, 29381098, 29484684, 31014395, 31180577, 31243043 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Lymphocytic Leukemia |
Lymphocytic Leukemia |
CLINVAR_DG |
24869598 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Lymphocytic Leukemia |
Lymphocytic Leukemia |
CTD_human_DG |
27542411 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Lymphocytic Leukemia |
Lymphocytic Leukemia |
CGI_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
32166339, 36530083, 36933698 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Common Variable Immunodeficiency |
Common variable immunodeficiency |
Pubtator |
31853824, 32047491, 33859323 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
GWASCAT_DG |
29212778 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Crohn Disease |
Crohn Disease |
BEFREE |
29538758 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryopyrin-Associated Periodic Syndromes |
Cryopyrin-Associated Periodic Syndromes |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cutis Laxa |
Cutis Laxa |
BEFREE |
30619256 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cutis Laxa |
Cutis laxa |
Pubtator |
30619256 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
Pubtator |
31131421 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatomyositis, Childhood Type |
Dermatomyositis |
BEFREE |
30429375 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 1 |
Diabetes mellitus, type 1 |
Pubtator |
22344559 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diffuse Large B-Cell Lymphoma |
Diffuse Lymphoma |
BEFREE |
25012946, 29496671 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyslipidemias |
Dyslipidemias |
BEFREE |
29733744 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial Alzheimer Disease (FAD) |
Alzheimer disease |
CTD_human_DG |
28714976 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial Cold Autoinflammatory Syndrome 1 |
Cold Autoinflammatory Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 |
Cold Autoinflammatory Syndrome |
ORPHANET_DG |
22236196, 23000145 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 |
Cold Autoinflammatory Syndrome |
GENOMICS_ENGLAND_DG |
23000145, 29538758 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Familial cold urticaria |
Cold urticaria |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontotemporal Dementia |
Frontotemporal dementia |
Pubtator |
31131421 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Stromal Tumors |
Gastrointestinal stromal tumor |
Pubtator |
37616163 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Genetic Predisposition to Disease |
Genetic predisposition to disease |
Pubtator |
30508305 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Graves Ophthalmopathy |
Graves ophthalmopathy |
Pubtator |
37989267 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hashimoto Disease |
Hashimoto Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemolytic Uremic Syndrome |
Hemolytic uremic syndrome |
Pubtator |
36033826 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hodgkin Disease |
Hodgkin disease |
Pubtator |
12881301, 28791394 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune System Diseases |
Immune System Diseases |
BEFREE |
30711010 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory Bowel Disease |
CTD_human_DG |
28067908 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Inflammatory Bowel Diseases |
Inflammatory Bowel Disease |
GWASCAT_DG |
28067908 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Inflammatory Bowel Diseases |
Inflammatory bowel disease |
Pubtator |
36113963 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kidney Neoplasm |
Kidney Neoplasm |
BEFREE |
23155228 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Laryngeal Neoplasms |
Laryngeal neoplasm |
Pubtator |
36033826 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
27758892 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
GWASCAT_DG |
27903959 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lewy Body Disease |
Lewy Body Disease |
BEFREE |
30326945 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lewy Body Disease |
Lewy body disease |
Pubtator |
30326945, 31131421, 33092647 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
31310377 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
37031207 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus Systemic |
Systemic lupus erythematosus |
Pubtator |
36180106 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
LHGDN |
15744341 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma Follicular |
Lymphoma |
Pubtator |
36994552 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macular Degeneration |
Macular degeneration |
Pubtator |
31560769, 32631374 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
24080446, 26275715 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
29972810 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muckle-Wells Syndrome |
Muckle-Wells Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple System Atrophy |
Multiple system atrophy |
Pubtator |
30326945 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelodysplastic Syndromes |
Myelodysplastic syndrome |
Pubtator |
30787430 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myoclonic dystonia |
Myoclonic dystonia |
Pubtator |
35773312 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
31549850 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastoma |
Nephroblastoma |
BEFREE |
18784435 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrotic Syndrome |
Nephrotic syndrome |
Pubtator |
25349203 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
30326945, 31131421, 38061598 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
30326945, 31131421 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
30658193 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopenia |
Osteopenia |
BEFREE |
21749368, 28272351 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis, Postmenopausal |
Osteoporosis |
BEFREE |
21749368 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
26096802 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
35120576 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| PLCG2-associated antibody deficiency and immune dysregulation |
Antibody Deficiency And Immune Dysregulation |
ORPHANET_DG |
22236196, 23000145 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| PLCG2-associated antibody deficiency and immune dysregulation |
Antibody Deficiency And Immune Dysregulation |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| PLCG2-associated antibody deficiency and immune dysregulation |
Antibody Deficiency And Immune Dysregulation |
BEFREE |
25760457, 31633221 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic ovary syndrome |
Pubtator |
33224973, 37226082, 40287692 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Presenile dementia |
Senile Dementia |
CTD_human_DG |
28714976 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progressive supranuclear palsy |
Progressive Supranuclear Palsy |
BEFREE |
30326945 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
28210261 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
Pubtator |
33725976 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Small Cell Lung Carcinoma |
Small cell lung carcinoma |
Pubtator |
34653364 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spondylitis Ankylosing |
Ankylosing spondylitis |
Pubtator |
38223749 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steroid-sensitive nephrotic syndrome |
Steroid-Sensitive Nephrotic Syndrome |
BEFREE |
25349203, 30568185 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach Neoplasms |
LHGDN |
14606067 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
14606067 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Supranuclear Palsy Progressive |
Progressive supranuclear palsy |
Pubtator |
30326945, 33092647 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroiditis Autoimmune |
Thyroiditis |
Pubtator |
22236196 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulcerative Colitis |
Ulcerative colitis |
GWASCAT_DG |
28067908 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Urticaria |
Urticaria |
Pubtator |
23000145 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urticaria |
Urticaria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Venous Thromboembolism |
Venous thromboembolism |
Pubtator |
31420334, 37537391 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Vitiligo |
Vitiligo |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Waldenstrom Macroglobulinemia |
Waldenstrom`s Macroglobulinemia |
BEFREE |
29496671 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Waldenstrom Macroglobulinemia |
Waldenstrom macroglobulinemia |
Pubtator |
30402490 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |