| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Angle Closure Glaucoma |
Angle Closure Glaucoma |
BEFREE |
31377279 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Antithrombin III Deficiency |
Antithrombin Deficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital contracture |
Congenital contracture |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu |
Congenital disorder of glycosylation |
GENOMICS_ENGLAND_DG |
19901254, 23109149, 26453362 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu |
Congenital disorder of glycosylation |
UNIPROT_DG |
23109149 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu |
Congenital disorder of glycosylation |
ORPHANET_DG |
23109149 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu |
Congenital disorder of glycosylation |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu |
Congenital disorder of glycosylation |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorders of Glycosylation |
Congenital disorder of glycosylation |
BEFREE |
23109149 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Disorders of Glycosylation |
Congenital disorder of glycosylation |
Pubtator |
33129689 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy |
Congenital Muscular Dystrophy With Intellectual Disability And Epilepsy |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Developmental Disabilities |
Developmental disability |
Pubtator |
33129689 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
23109149 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic encephalopathy |
Epileptic encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exfoliation Syndrome |
Exfoliation Syndrome |
BEFREE |
28505344 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized clonic seizures |
Clonic Seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized myoclonic seizures |
Myoclonic Seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
BEFREE |
28505344 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glycogen Storage Disease XIV |
Glycogen storage disease |
Pubtator |
33129689 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Defects Congenital |
Congenital heart defect |
Pubtator |
33129689 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
33129689 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy |
Muscular dystrophy |
BEFREE |
23109149 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopenia |
Osteopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinsonian Disorders |
Parkinson Disease |
BEFREE |
29523295 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary angle-closure glaucoma |
Angle closure glaucoma |
BEFREE |
31377279 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Distress Syndrome, Newborn |
Congenital alveolar dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoidosis |
Sarcoidosis |
BEFREE |
19946248 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
33129689 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trigonocephaly |
Trigonocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |