| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Arthrogryposis |
Arthrogryposis multiplex congenita |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Coagulation Disorders |
Blood Coagulation Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar atrophy |
Cerebellar atrophy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral cortical atrophy |
Cerebral cortical atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Child Development Disorders, Pervasive |
Development Disorder |
GWASCAT_DG |
28540026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital disorder of glycosylation type 1s |
Congenital disorder of glycosylation |
BEFREE |
19856127, 23111317, 30071302 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Disorder Of Glycosylation, Type In |
Congenital disorder of glycosylation |
UNIPROT_DG |
18313027, 19701946 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorder Of Glycosylation, Type In |
Congenital disorder of glycosylation |
GENOMICS_ENGLAND_DG |
18313027, 23111317, 27604308 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorder Of Glycosylation, Type In |
Congenital disorder of glycosylation |
BEFREE |
19701946, 23111317, 26892341 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorder Of Glycosylation, Type In |
Congenital disorder of glycosylation |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorder Of Glycosylation, Type In |
Congenital disorder of glycosylation |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorders of Glycosylation |
Congenital disorder of glycosylation |
BEFREE |
18313027, 19856127 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorders of Glycosylation |
Congenital disorder of glycosylation |
Pubtator |
18313027, 19701946, 36579437 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Crohn Disease |
Crohn Disease |
GWASCAT_DG |
28067908 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
11818404 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
11818404 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss Sensorineural |
Hearing loss |
Pubtator |
19701946 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| RFT1-CDG |
Congenital Disorder Of Glycosylation |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
GWASCAT_DG |
28540026 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| West Syndrome |
West Syndrome |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |