| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Agenesis of pulmonary artery |
Agenesis of pulmonary artery |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases |
Bone Disease |
BEFREE |
17277775 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases |
Bone disease |
Pubtator |
17277775 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Neoplasms |
Brain Neoplasms |
BEFREE |
30042341 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
16948818, 20025484, 20402676 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
20661084, 23315881 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cole Carpenter syndrome |
Cole Carpenter Syndrome |
BEFREE |
25604815 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
16948818, 23303631 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Connective Tissue Diseases |
Connective Tissue Disease |
LHGDN |
17055431 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
BEFREE |
29356567 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
BEFREE |
26404725, 29356567, 29529559, 30596467 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exophthalmos |
Proptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Stromal Tumors |
Gastrointestinal stromal tumor |
BEFREE |
19269008 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydronephrosis |
Hydronephrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
28453560 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lobstein Disease |
Lobstein Disease |
CTD_human_DG |
18566967 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
20661084 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, Non-Hodgkin |
Non-Hodgkin lymphoma |
BEFREE |
17071630 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Major Depressive Disorder |
Mental Depression |
BEFREE |
29317602 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Major Depressive Disorder |
Mental Depression |
GWASCAT_DG |
29317602 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
20661084, 23315881 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
31611962 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
16687442, 16938569, 18058802, 19058873 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Depression |
Mental Depression |
BEFREE |
26404725, 29356567, 29529559, 30596467 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micromelia |
Micromelia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucopolysaccharidosis IV |
Mucopolysaccharidosis |
BEFREE |
19862557, 19895918 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
BEFREE |
18381704 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple Sclerosis |
BEFREE |
19359048 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
19826114 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteogenesis Imperfecta |
Osteogenesis Imperfecta |
BEFREE |
17055431, 17192541, 17925189, 18566967, 19088120, 19533842, 19550437, 19781681, 19862557, 19907330, 20089953, 20485499, 20839288, 21282188, 21567925, 21667357, 21829228, 21955071, 21964860, 24835313, 26634552, 29036614 View all (7 more) |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Osteogenesis Imperfecta |
Osteogenesis imperfecta |
Pubtator |
17277775, 18566967, 20089953, 20188343, 20839288, 21282188, 21829228, 21955071, 21964860, 25742658, 26634552, 27335225, 28802583, 30993352, 39245686 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Osteogenesis Imperfecta |
Osteogenesis Imperfecta |
LHGDN |
18566967, 18996919 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Osteogenesis Imperfecta |
Osteogenesis Imperfecta |
CTD_human_DG |
18566967 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Osteogenesis imperfecta type 2 |
Osteogenesis Imperfecta |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteogenesis imperfecta type 2A |
Osteogenesis imperfecta |
Pubtator |
18996919 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteogenesis imperfecta type 3 |
Osteogenesis Imperfecta |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteogenesis imperfecta type 4 |
Osteogenesis Imperfecta |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteogenesis imperfecta type III (disorder) |
Osteogenesis Imperfecta |
ORPHANET_DG |
21438135 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteogenesis imperfecta type IV (disorder) |
Osteogenesis Imperfecta |
ORPHANET_DG |
21438135 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteogenesis Imperfecta Type IX |
Osteogenesis imperfecta |
Pubtator |
28802583 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteogenesis Imperfecta Type VII |
Osteogenesis Imperfecta |
UNIPROT_DG |
17055431, 18566967, 19550437, 21955071 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteogenesis Imperfecta Type VII |
Osteogenesis Imperfecta |
CLINVAR_DG |
17055431, 18996919, 19550437 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteogenesis Imperfecta Type VII |
Osteogenesis Imperfecta |
BEFREE |
19895918, 21955071 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteogenesis Imperfecta Type VII |
Osteogenesis imperfecta |
Pubtator |
21955071, 28802583, 37146916 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteogenesis Imperfecta Type VII |
Osteogenesis Imperfecta |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteogenesis Imperfecta Type VII |
Osteogenesis Imperfecta |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteogenesis imperfecta, dominant perinatal lethal |
Osteogenesis Imperfecta |
BEFREE |
19550437 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteogenesis imperfecta, dominant perinatal lethal |
Osteogenesis Imperfecta |
ORPHANET_DG |
21438135 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteopenia |
Osteopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
BEFREE |
17192541, 19727905 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
Pubtator |
17192541, 19727905 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Periodontal Diseases |
Periodontal Diseases |
BEFREE |
26782454 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Presenile dementia |
Senile Dementia |
BEFREE |
29356567 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhizomelia |
Rhizomelia |
BEFREE |
20089953 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhizomelia |
Rhizomelia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT |
Scapuloperoneal Myopathy, X-Linked |
BEFREE |
23271051 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of the head and neck |
Carcinoma Of The Head And Neck |
BEFREE |
23271051 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
31611962 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |