| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acquired Kyphoscoliosis |
Acquired Kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
10427123, 11339893, 9479495 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
10854146, 12749760 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cirrhosis |
Cirrhosis |
BEFREE |
28819319, 31742822 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
10536173, 18543267 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal Neoplasms |
LHGDN |
17106246 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complete atrioventricular block |
Complete Atrioventricular Block |
BEFREE |
28819319 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital dislocation of radial head |
Dislocated radial head |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital kyphoscoliosis |
Congenital kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Arteriosclerosis |
Coronary Arteriosclerosis |
BEFREE |
23922147 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
BEFREE |
23922147 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
23922147 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
BEFREE |
31467315 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
Pubtator |
31467315 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eosinophilia |
Eosinophilia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epiphyseal dysplasia |
Epiphyseal dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrosis, Liver |
Liver Fibrosis |
BEFREE |
28819319 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
12749760 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
28148688 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Carcinoma |
Head And Neck Carcinoma |
BEFREE |
10854146 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Multiple Exostoses |
Multiple congenital exostosis |
BEFREE |
10878610, 9473480 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperemia |
Hyperemia |
BEFREE |
23922147 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune System Diseases |
Immune system disease |
Pubtator |
35818069 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES |
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES |
UNIPROT_DG |
28132690, 28148688 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES |
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES |
GENOMICS_ENGLAND_DG |
28132690 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES |
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES |
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
GWASCAT_DG |
27903959 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Cirrhosis |
Liver Cirrhosis |
BEFREE |
28819319, 31742822 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
Pubtator |
28331220 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphopenia |
Lymphopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Head and Neck Neoplasm |
Head and neck cancer |
BEFREE |
10854146 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of brain |
Brain Neoplasms |
BEFREE |
12749760 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
10427123, 11339893, 9479495 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
10854146 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MPS III C |
Mucopolysaccharidosis |
BEFREE |
26347037 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucopolysaccharidoses |
Mucopolysaccharidosis |
Pubtator |
19690583 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucopolysaccharidosis III |
Mucopolysaccharidosis |
Pubtator |
19690583, 26347037 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucopolysaccharidosis Type IIIA |
Mucopolysaccharidosis |
BEFREE |
19690583 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
Pubtator |
37522196 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
10536173, 11461012, 18543267, 26997434, 9473480 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental disorder |
Pubtator |
28132690 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
11236925 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrodysplasias |
Osteochondrodysplasia |
BEFREE |
28132690, 28148688 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopetrosis |
Osteopetrosis |
BEFREE |
9473480 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
35818069 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pyle metaphyseal dysplasia |
Pyle Metaphyseal Dysplasia |
BEFREE |
28331220 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pyle metaphyseal dysplasia |
Pyle Metaphyseal Dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhizomelia |
Rhizomelia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
BEFREE |
26997434 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Septicemia |
Septicemia |
BEFREE |
31416437 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe Combined Immunodeficiency |
Severe combined immunodeficiency disease |
BEFREE |
28132690 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe Combined Immunodeficiency |
Severe combined immunodeficiency |
Pubtator |
28132690 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia |
Skeletal Dysplasia |
BEFREE |
28132690, 28148688 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia |
Skeletal Dysplasia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spinal Cord Compression |
Spinal cord compression |
Pubtator |
28331220 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
36181793 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uveitis |
Uveitis |
BEFREE |
31647700 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |