| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Cardiovascular Abnormalities |
Cardiovascular Abnormalities |
GENOMICS_ENGLAND_DG |
31327508 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
BEFREE |
31327508 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Kidney Diseases |
Kidney Disease |
BEFREE |
20383146 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Kidney Diseases |
Kidney Disease |
GWASDB_DG |
20383146, 22479191 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital ocular coloboma (disorder) |
Congenital ocular coloboma |
GENOMICS_ENGLAND_DG |
31327508 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital ocular coloboma (disorder) |
Congenital ocular coloboma |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphism |
Dysmorphism |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
31327508 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy |
Epilepsy |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Global developmental delay |
Developmental Delay |
GENOMICS_ENGLAND_DG |
31327508 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
31327508 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Irido-corneo-trabecular dysgenesis (disorder) |
Anterior segment dysgenesis |
GENOMICS_ENGLAND_DG |
31327508 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure, Chronic |
Kidney Failure |
GWASCAT_DG |
20383146 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcornea |
Microcornea |
GENOMICS_ENGLAND_DG |
31327508 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
31327508 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
38304253 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urogenital Abnormalities |
Urogenital Abnormalities |
GENOMICS_ENGLAND_DG |
31327508 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |