| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Angelman Syndrome |
Angelman Syndrome |
BEFREE |
29388081 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arachnodactyly |
Arachnodactyly |
Pubtator |
37755482 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arachnodactyly |
Arachnodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
22415012 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
22415012 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachycephaly |
Brachycephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Microtia |
Congenital microtia |
Pubtator |
33811463 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostoses |
Craniosynostosis |
Pubtator |
37755482 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
BEFREE |
22019272, 27589347 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Craniosynostosis |
Craniosynostosis |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Crohn Disease |
Crohn Disease |
BEFREE |
23977348 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crohn Disease |
Crohn disease |
Pubtator |
23977348 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
30030988 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
30030988 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalocele |
Encephalocele |
Pubtator |
37755482 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
37755482 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss Conductive |
Conductive hearing loss |
Pubtator |
37755482 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
Pubtator |
37755482 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
25256811, 27410456 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
37755482 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Learning Disabilities |
Learning disorders |
Pubtator |
37755482 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lethal occipital encephalocele-skeletal dysplasia syndrome |
Lethal Occipital Encephalocele-Skeletal Dysplasia Syndrome |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Mouth Diseases |
Mouth Diseases |
CTD_human_DG |
17682004 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mouth Neoplasms |
Mouth neoplasm |
Pubtator |
25114974 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucopolysaccharidosis III |
Mucopolysaccharidosis |
Pubtator |
29606097 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloid Leukemia, Chronic |
Myeloid Leukemia |
BEFREE |
26474455 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neural Tube Defects |
Neural Tube Defect |
BEFREE |
29297599 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neural Tube Defects |
Neural tube defect |
Pubtator |
29297599 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
20658618 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
CTD_human_DG |
20882379 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Occipital Encephalocele |
Occipital Encephalocele |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oligodactyly |
Oligodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis |
Osteoarthritis |
Pubtator |
36769350 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrodysplasias |
Osteochondrodysplasia |
BEFREE |
29606097 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Diseases |
Ovarian diseases |
Pubtator |
32789750 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES |
RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES |
ORPHANET_DG |
22019272 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES |
RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES |
UNIPROT_DG |
22019272 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES |
RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES |
GENOMICS_ENGLAND_DG |
27410456 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES |
RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ramer Ladda syndrome |
Ramer Ladda Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Refractory anemias |
Anemia |
BEFREE |
29650589 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
29650589 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
BEFREE |
19703508 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
GWASCAT_DG |
25056061, 26198764 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Skeletal dysplasia |
Skeletal Dysplasia |
BEFREE |
29606097 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
21641851 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
29379198 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
CTD_human_DG |
29379198 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulcerative Colitis |
Ulcerative colitis |
BEFREE |
23977348, 31249444 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
38216619 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |