| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| 46,XX gonadal dysgenesis |
46, XX gonadal dysgenesis |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arachnoid Cysts |
Arachnoid cyst |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gonadal Dysgenesis, 46,XX |
Gonadal Dysgenesis |
ORPHANET_DG |
30830215 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INFANTILE CEREBELLAR-RETINAL DEGENERATION |
Cerebellar-Retinal Degeneration |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
CLINVAR_DG |
22405087, 25351951, 26992325, 28545339 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| OPTIC ATROPHY 9 |
Optic Atrophy |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian Failure, Premature |
Ovarian Failure |
BEFREE |
30830215 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Premature Menopause |
Premature Menopause |
BEFREE |
30830215 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pure Gonadal Dysgenesis, 46, XX |
46,XX gonadal dysgenesis |
ORPHANET_DG |
30830215 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural hearing loss, bilateral |
Sensorineural hearing loss |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |