| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
30970236 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astigmatism |
Astigmatism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
30970236 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
29656858 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Diseases |
Cerebellar diseases |
Pubtator |
29656858 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis |
Colitis |
BEFREE |
29312533 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
29312533 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of face |
Facial dysmorphism |
BEFREE |
30684285 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathies |
Diabetic neuropathy |
Pubtator |
33679616 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsies Partial |
Partial epilepsy |
Pubtator |
29656858 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
29656858 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
29656858 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic encephalopathy |
Epileptic encephalopathy |
BEFREE |
29656858 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic encephalopathy |
Epileptic encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic Encephalopathy Early Infantile 3 |
Developmental and epileptic encephalopathy |
Pubtator |
29656858 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 |
Epileptic encephalopathy |
GENOMICS_ENGLAND_DG |
28867141 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 |
Epileptic encephalopathy |
UNIPROT_DG |
29656858 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 |
Epileptic encephalopathy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial Dysmorphism with Multiple Malformations |
Facial dysmorphism syndrome |
Pubtator |
29656858 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
GENOMICS_ENGLAND_DG |
28867141 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperopia |
Hyperopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
28867141 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
BEFREE |
30684285 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Kidney Diseases |
Kidney disease |
Pubtator |
33679616 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrostomia |
Macrostomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
29312533 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
38533551 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synophrys |
Synophrys |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Unspecified neurodevelopmental disorder |
Neurodevelopmental Disorders |
GENOMICS_ENGLAND_DG |
30290155 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |