| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 |
Combined Oxidative Phosphorylation Deficiency |
CLINVAR_DG |
21549344, 22277967, 25058219, 25705216, 27839525, 29440775 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of lung |
Pulmonary hypoplasia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
21549344, 22277967, 24808023, 25058219 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrops Fetalis, Non-Immune |
Hydrops Fetalis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE |
Leukoencephalopathy, With Ovarian Failure |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
21549344, 22277967, 24808023, 25058219 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pericardial effusion |
Pericardial effusion |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pleural effusion disorder |
Pleural effusion |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic Ovary Syndrome |
CTD_human_DG |
21411543 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sclerocystic Ovaries |
Sclerocystic Ovaries |
CTD_human_DG |
21411543 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |