| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenocarcinoma |
Adenocarcinoma |
LHGDN |
17668204 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia Aplastic |
Aplastic anemia |
Pubtator |
22401598 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anorexia |
Anorexia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Antibody Deficiency Syndrome |
Antibody Deficiency Syndrome |
CTD_human_DG |
8490660 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Valve Insufficiency |
Aortic Valve Insufficiency |
BEFREE |
28654700 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
1671848, 22723555, 23751612 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bare Lymphocyte Syndrome |
Bare Lymphocyte Syndrome |
CTD_human_DG |
15546002 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Neoplasms |
Bone neoplasm |
Pubtator |
33095470 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Injuries |
Brain injuries |
Pubtator |
24610929 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
33968066, 34867821 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bruton type agammaglobulinemia |
Bruton type agammaglobulinemia |
Pubtator |
30564228 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Basal Cell |
Basal cell carcinoma |
Pubtator |
21980389, 22664550 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
34218795 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Basal Cell |
Carcinoma |
BEFREE |
21980389 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
9616229 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Celiac Disease |
Celiac disease |
BEFREE |
12851869 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
34975867 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
27745778, 29030662 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
27745778, 29030662 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 1 |
Diabetes mellitus, type 1 |
Pubtator |
1671006 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
1671006, 30274071 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Disorder of Sex Development 46 XY |
46, xy disorder of sex development |
Pubtator |
11877434 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalitis |
Encephalitis |
Pubtator |
24330827 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
34124265 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eosinophilia |
Eosinophilia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal carcinoma |
Esophageal Carcinoma |
BEFREE |
29805749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophagus Neoplasm |
BEFREE |
29805749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exfoliative dermatitis |
Exfoliative Dermatitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Stromal Sarcoma |
Gastrointestinal stromal tumor |
CTD_human_DG |
27793025 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Stromal Tumors |
Gastrointestinal stromal tumor |
CTD_human_DG |
27793025 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GATA2 Deficiency |
Gata2 deficiency |
Pubtator |
11971211 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Graft-vs-Host Disease |
Graft-Vs-Host Disease |
BEFREE |
11313428, 29507075 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Neoplasms |
Head and neck neoplasm |
Pubtator |
35090306 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| IMMUNODEFICIENCY 18 |
Immunodeficiency |
CLINVAR_DG |
15546002, 8490660 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| IMMUNODEFICIENCY 18 |
Immunodeficiency |
GENOMICS_ENGLAND_DG |
7937778 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| IMMUNODEFICIENCY 18 |
Immunodeficiency |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| IMMUNODEFICIENCY 18, SCID VARIANT |
IMMUNODEFICIENCY, SCID VARIANT |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT |
IMMUNODEFICIENCY, SCID VARIANT |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Immunodeficiency due to Defect in CD3-Epsilon |
Immunodeficiency |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immunologic Deficiency Syndromes |
Immunologic Deficiency Syndromes |
BEFREE |
21203507 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immunologic Deficiency Syndromes |
Immunologic Deficiency Syndromes |
CTD_human_DG |
8490660 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immunologic Deficiency Syndromes |
Immunologic Deficiency Syndromes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
17668204 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus, Systemic |
Lupus Erythematosus |
BEFREE |
28400152 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
Pubtator |
12890821 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
Pubtator |
18815285, 21274672 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
BEFREE |
26230248 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, Extranodal NK-T-Cell |
Lymphoma |
BEFREE |
29761078 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
30924846 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of esophagus |
Esophagus Neoplasm |
BEFREE |
29805749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
9616229 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
23041545 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
Pubtator |
10848781 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal Carcinoma |
Nasopharyngeal carcinoma |
Pubtator |
37274867 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
30038626, 31615814, 8050820 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Omenn Syndrome |
Omenn Syndrome |
CTD_human_DG |
15546002 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Omenn Syndrome |
Omenn Syndrome |
BEFREE |
22723555 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis |
Osteoarthritis |
Pubtator |
14715568 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Otitis Media |
Otitis media |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Carcinoma |
Ovarian Carcinoma |
BEFREE |
9616229 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
34633990, 37841886, 9616229 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paraparesis Tropical Spastic |
Tropical spastic paraparesis |
Pubtator |
26358743 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paroxysmal nonkinesigenic dyskinesia |
Paroxysmal nonkinesigenic dyskinesia |
Pubtator |
21264308 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma |
Lymphoblastic Leukemia |
BEFREE |
3100631 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
23041545 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
36655999 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Recurrent otitis media |
Otitis media |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
LHGDN |
16308105 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdomyosarcoma |
Rhabdomyosarcoma |
Pubtator |
33095470 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
CTD_human_DG |
12833524 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma |
Sarcoma |
BEFREE |
31842801 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe Combined Immunodeficiency |
Severe combined immunodeficiency disease |
CLINGEN_DG |
1370449, 15546002, 1828760, 24515816, 7937778, 8490660 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Severe Combined Immunodeficiency |
Severe combined immunodeficiency disease |
CTD_human_DG |
15546002 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Severe Combined Immunodeficiency |
Severe combined immunodeficiency |
Pubtator |
15546002, 30564228, 32265901, 33040328, 35303369 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Severe Combined Immunodeficiency |
Severe combined immunodeficiency disease |
BEFREE |
16264327, 22723555 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Severe Combined Immunodeficiency |
Severe combined immunodeficiency disease |
GENOMICS_ENGLAND_DG |
7937778 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
29805749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
21264308 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
33134377, 34091115 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta |
Severe combined immunodeficiency disease |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| T-Cell Lymphoma |
T-Cell Lymphoma |
BEFREE |
12851869 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroiditis Autoimmune |
Thyroiditis |
Pubtator |
37501789 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
33204728 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
33901225, 35090306 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uveal melanoma |
Uveal melanoma |
Pubtator |
19369244 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |