| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
34990474 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
BEFREE |
30715372 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardiomyopathies |
Cardiomyopathy |
Pubtator |
34740256, 36672924 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardiomyopathy Dilated |
Dilated cardiomyopathy |
Pubtator |
30579426, 35975634, 36672924 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Hypertrophic |
Hypertrophic cardiomyopathy |
Pubtator |
36672924, 39971408 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy, Dilated |
Cardiomyopathy |
BEFREE |
30579426 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Heart Defects |
Congenital heart defects |
BEFREE |
30715372 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epidermolysis Bullosa |
Epidermolysis Bullosa |
BEFREE |
27798626 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epidermolysis Bullosa Simplex |
Epidermolysis Bullosa Simplex |
BEFREE |
28532758, 29574966, 30579426 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epidermolysis Bullosa Simplex |
Epidermolysis bullosa |
Pubtator |
30579426, 34740256, 35975634, 39317060 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epidermolysis Bullosa Simplex Kobner |
Epidermolysis Bullosa |
CLINVAR_DG |
27798626, 27889062 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS |
Epidermolysis Bullosa Simplex, With Scarring And Hair Loss |
ORPHANET_DG |
27798626, 27889062, 28532758, 29574966 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS |
Epidermolysis Bullosa Simplex, With Scarring And Hair Loss |
CLINGEN_DG |
27798626, 27889062 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS |
Epidermolysis Bullosa Simplex, With Scarring And Hair Loss |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS |
Epidermolysis Bullosa Simplex, With Scarring And Hair Loss |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
BEFREE |
30715372 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intermediate epidermolysis bullosa simplex with cardiomyopathy |
Epidermolysis Bullosa Simplex With Cardiomyopathy |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Keratoderma, Palmoplantar, Diffuse |
Palmoplantar keratoderma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
32783661 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Abnormalities |
Skin abnormalities |
Pubtator |
34740256 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |