| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
29695863 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Branchio-Oto-Renal Syndrome |
Branchiootorenal Syndrome |
BEFREE |
20956555 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
20103625 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
29763465, 36473847 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
36280829 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
38214606 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
34795663 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
BEFREE |
23798481, 23995275 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
Pubtator |
23798481, 36672924 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Dilated |
Dilated cardiomyopathy |
Pubtator |
36672924, 38329383 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy, Dilated |
Cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
33413275 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
33413275 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
31545242 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
36941538 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
30874541 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatitis |
Dermatitis |
BEFREE |
30254289 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diffuse Large B-Cell Lymphoma |
Diffuse Lymphoma |
BEFREE |
27006117 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal myopathy Nonaka type |
Distal myopathy |
Pubtator |
29260357 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endocrine System Diseases |
Endocrine system disease |
Pubtator |
36280829 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glycogen Storage Disease Type IV |
Glycogen Storage Disease |
BEFREE |
23104095, 25599590, 26008899 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glycogen Storage Disease Type IV |
Glycogen storage disease |
Pubtator |
23104095, 26008899 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glycogen Storage Disease Type IV |
Glycogen Storage Disease |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Heart Diseases |
Heart disease |
Pubtator |
29260357 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
36473847 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune System Diseases |
Immune System Diseases |
BEFREE |
23995275 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune System Diseases |
Immune system disease |
Pubtator |
29260357 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
GWASCAT_DG |
27903959 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
20103625, 29763465 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
26085217, 31545242 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
BEFREE |
23798481, 23995275, 25599590, 26085217, 29260357 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
23912458, 29763465, 31545242 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
35017290 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY |
Polyglucosan Body Myopathy With Or Without Immunodeficiency |
GENOMICS_ENGLAND_DG |
23104095, 23798481, 23889995, 25041762, 29260357 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY |
Polyglucosan Body Myopathy With Or Without Immunodeficiency |
UNIPROT_DG |
23104095, 23798481 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY |
Polyglucosan Body Myopathy With Or Without Immunodeficiency |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polyglucosan body myopathy type 1 |
Polyglucosan body myopathy |
ORPHANET_DG |
23674175, 23798481 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Polyglucosan body myopathy type 1 |
Polyglucosan body myopathy |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
30874541 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
36280829 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |