| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute encephalopathy |
Encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alternating esotropia |
Alternating esotropia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alveolar Soft Part Sarcoma |
Alveolar Sarcoma |
BEFREE |
26045774 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthrogryposis |
Arthrogryposis multiplex congenita |
BEFREE |
30690882 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrophy/Degeneration affecting the brainstem |
Brainstem Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
26045774 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
26045774, 34539936 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar atrophy |
Cerebellar atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic axonal neuropathy |
Neuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of fingers |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| COG8-CDG |
Congenital Disorder Of Glycosylation |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
26045774 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
26045774 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of face |
Facial dysmorphism |
BEFREE |
30690882 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital disorder of glycosylation type 1s |
Congenital disorder of glycosylation |
BEFREE |
30690882 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Disorder Of Glycosylation Type In |
Congenital disorder of glycosylation |
Pubtator |
37083278 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii |
Congenital disorder of glycosylation |
BEFREE |
17220172 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Disorder Of Glycosylation, Type IIH |
Congenital disorder of glycosylation |
GENOMICS_ENGLAND_DG |
11980916, 17220172, 17331980, 27604308 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorder Of Glycosylation, Type IIH |
Congenital disorder of glycosylation |
BEFREE |
17220172, 17331980 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorder Of Glycosylation, Type IIH |
Congenital disorder of glycosylation |
ORPHANET_DG |
17331980 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorder Of Glycosylation, Type IIH |
Congenital disorder of glycosylation |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorder Of Glycosylation, Type IIH |
Congenital disorder of glycosylation |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorders of Glycosylation |
Congenital disorder of glycosylation |
BEFREE |
17331980, 18353293, 23865579, 25192513, 28619360, 28883096, 30690882 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorders of Glycosylation |
Congenital disorder of glycosylation |
Pubtator |
37083278 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dandy-Walker Syndrome |
Dandy-Walker Syndrome |
BEFREE |
30690882 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
26045774 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Food intolerance (disorder) |
Food Intolerance |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
26045774 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of esophagus |
Esophagus Neoplasm |
BEFREE |
26045774 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
26045774 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
26045774 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MiT family translocation renal cell carcinoma |
Renal Carcinoma |
BEFREE |
26045774 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
19690088 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Protein-Losing Enteropathies |
Protein-losing enteropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spontaneous hematomas |
Hematomas |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Status Epilepticus |
Status Epilepticus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
26045774 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xanthomatosis Cerebrotendinous |
Xanthomatosis |
Pubtator |
37083278 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |