| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Abetalipoproteinemia |
Abetalipoproteinemia |
BEFREE |
3727925 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia |
Anemia |
BEFREE |
30101387 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Angina Stable |
Angina pectoris |
Pubtator |
36830671 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bipolar Disorder |
Bipolar Disorder |
GWASCAT_DG |
24280982 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bipolar Disorder |
Bipolar disorder |
Pubtator |
24280982, 28195573 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Blood Coagulation Disorders Inherited |
Blood coagulation disorder |
Pubtator |
31034465 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood group deletion syndrome |
McLeod neuroacanthocytosis syndrome |
BEFREE |
24635891 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
29017056 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
27779101, 37063922 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular disease |
Pubtator |
37798313 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
Pubtator |
31034465 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ciliary Motility Disorders |
Ciliary dyskinesia |
Pubtator |
31034465 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| COENZYME Q10 DEFICIENCY |
Coenzyme Q10 Deficiency |
BEFREE |
4525474 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Arteriosclerosis |
Coronary Arteriosclerosis |
BEFREE |
30946353 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
BEFREE |
30946353 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
Pubtator |
36830671 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
30946353 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
27193597 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
21127054 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal Muscular Dystrophies |
Distal Muscular Dystrophy |
BEFREE |
2082493 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal Myopathies |
Distal myopathy |
Pubtator |
37510237 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
BEFREE |
31034465 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Flexion contracture - elbow |
Elbow flexion contracture |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Stromal Tumors |
Gastrointestinal stromal tumor |
BEFREE |
26950487 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Stromal Tumors |
Gastrointestinal stromal tumor |
Pubtator |
26950487 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
Pubtator |
31034465 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
31034465 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Failure |
Heart failure |
Pubtator |
37798313 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypercalcemia |
Hypercalcemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperphosphatemia (disorder) |
Hyperphosphatemia |
BEFREE |
30101387 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophy |
Hypertrophy |
Pubtator |
37510237 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypodontia |
Hypodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
33626210 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Isaacs syndrome |
Isaacs Syndrome |
BEFREE |
28660750 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kaposi Sarcoma |
Kaposi Sarcoma |
BEFREE |
29950425 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukopenia |
Leukopenia |
BEFREE |
31071486 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
27270320 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus Systemic |
Systemic lupus erythematosus |
Pubtator |
27353506 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus, Systemic |
Lupus Erythematosus |
BEFREE |
27353506 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma Follicular |
Lymphoma |
Pubtator |
26997445 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macroglossia |
Macroglossia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
29017056 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
27270320 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental disorders |
Mental Disorders |
GWASDB_DG |
24280982 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mixed Connective Tissue Disease |
Mixed connective tissue disease |
Pubtator |
27353506 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy |
Muscular dystrophy |
BEFREE |
710453 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy, Duchenne |
Duchenne Muscular Dystrophy |
BEFREE |
474067, 7416442 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloid Leukemia |
Myeloid Leukemia |
LHGDN |
15183893 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial infarction |
Pubtator |
30946353 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
BEFREE |
2082493, 4708457, 987723 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
29017056 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oculocerebrodental syndrome |
Oculocerebrodental Syndrome |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Oligodontia |
Oligodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
30468462 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Protein-Losing Enteropathies |
Protein-losing enteropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychotic Disorders |
Psychosis |
GWASDB_DG |
24280982 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoglycanopathies |
Sarcoglycanopathies |
Pubtator |
15626830 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
GWASCAT_DG |
21926974, 24280982 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
GWASDB_DG |
21926974 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
Pubtator |
24280982, 28195573 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
BEFREE |
28195573 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thoracic hypoplasia |
Thoracic hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |