| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenoma |
Adenoma |
BEFREE |
21826244 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
32901138 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Diseases |
Cerebellar diseases |
Pubtator |
31794024 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
21826244, 23625650 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
21826244 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
31794024, 39787667 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
32901138 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial Dysmorphism with Multiple Malformations |
Facial dysmorphism syndrome |
Pubtator |
39787667 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glucose-6-phosphate transport defect |
Glucose-6-Phosphate Transport Defect |
CLINVAR_DG |
10026167, 10323254, 10923042, 10940311, 12444104, 15953877, 18835800, 22899091, 24646511, 26913919, 28224773, 9758626 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glycogen Storage Disease |
Glycogen Storage Disease |
CLINVAR_DG |
10323254, 10923042, 9758626 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| GLYCOGEN STORAGE DISEASE Ic |
Glycogen Storage Disease |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
31794024 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
31794024 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
31794024, 39787667 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
32901138, 39787667 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
23625650 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
31794024 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-specific syndromic intellectual disability |
Syndromic Mental Retardation |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Parkinson Disease |
Parkinson disease |
BEFREE |
20035503 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
Pubtator |
20035503 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychomotor Disorders |
Psychiatric disorders |
Pubtator |
32901138 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
GENOMICS_ENGLAND_DG |
31794024 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
31794024, 39787667 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic tetraparesis |
Spastic tetraparesis |
GENOMICS_ENGLAND_DG |
31794024 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Visual Cortex Disorder |
Visual cortex disease |
GENOMICS_ENGLAND_DG |
31794024 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |