| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acne |
Acne |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia |
Anemia |
BEFREE |
19717560 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
GWASDB_DG |
23517042 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoinflammatory disorder |
Autoinflammatory Disease |
GENOMICS_ENGLAND_DG |
27860302 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Avellino corneal dystrophy |
Avellino Corneal Dystrophy |
GENOMICS_ENGLAND_DG |
15994876, 23087183 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital dyserythropoietic anemia |
Congenital dyserythropoietic anemia |
BEFREE |
15994876 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital dyserythropoietic anemia |
Congenital dyserythropoietic anemia |
GENOMICS_ENGLAND_DG |
15994876, 23087183 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplastic anemia |
Congenital Hypoplastic Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital ichthyosis |
Congenital Ichthyosis |
BEFREE |
25300978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crohn Disease |
Crohn Disease |
BEFREE |
20032092 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
19369868 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
19369868 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
17804763 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial generalized lipodystrophy |
Lipodystrophy |
BEFREE |
25300978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Autoinflammatory Diseases |
Autoinflammatory Disease |
GENOMICS_ENGLAND_DG |
17330256 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyoses |
Ichthyosis |
BEFREE |
25300978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory dermatosis |
Dermatitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intestinal Diseases |
Intestinal Diseases |
BEFREE |
25300978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Iron-Refractory Iron Deficiency Anemia |
Anemia |
GENOMICS_ENGLAND_DG |
15994876, 23087183 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Iron-Refractory Iron Deficiency Anemia |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoconus |
Keratoconus |
Pubtator |
37965330 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukopenia |
Leukopenia |
BEFREE |
31727123 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipodystrophy |
Lipodystrophy |
BEFREE |
15862761 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
34789197 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Majeed syndrome |
Majeed Syndrome |
BEFREE |
15994876, 17330256, 19717560, 20032092, 25300978, 28031477, 31727123 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Majeed syndrome |
Majeed Syndrome |
GENOMICS_ENGLAND_DG |
15994876, 17330256, 23087183, 27860302, 29912021 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Majeed syndrome |
Majeed Syndrome |
UNIPROT_DG |
15994876 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Majeed syndrome |
Majeed syndrome |
Pubtator |
17330256, 23087183, 31727123, 33314777 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Majeed syndrome |
Majeed Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Majeed syndrome |
Majeed Syndrome |
ORPHANET_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Majeed syndrome |
Majeed Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Majeed syndrome |
Majeed Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Malabsorption Syndrome |
Malabsorption Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
23792589 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Diseases |
Metabolic Diseases |
BEFREE |
22334674, 23603613 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcytic hypochromic anemia (disorder) |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
BEFREE |
25300978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
BEFREE |
15862761 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
23792589 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutropenia |
Neutropenia |
BEFREE |
31727123 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutropenia |
Neutropenia |
Pubtator |
31727123 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
17804763, 19136718, 22334674 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
37047702 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteomyelitis |
Osteomyelitis |
Pubtator |
33314777 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteomyelitis |
Osteomyelitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosclerosis |
Osteosclerosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
23792589 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
33596934 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal glomerular disease |
Renal Glomerular Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
28371410 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe myopia |
Myopia |
BEFREE |
15862761 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synovitis |
Synovitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome |
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome |
BEFREE |
20032092 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichohepatoenteric Syndrome |
Trichohepatoenteric Syndrome |
BEFREE |
15994876 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triglyceride storage disease with ichthyosis |
Triglyceride Storage Disease With Ichthyosis |
BEFREE |
25300978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
34789197 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |