| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adrenocortical Carcinoma |
Adrenocortical carcinoma |
Pubtator |
32915499 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
28630030 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic Lateral Sclerosis |
BEFREE |
24290757, 26192745, 27623008 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
Pubtator |
27623008 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
Pubtator |
34907471, 37372334 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Coagulation Disorders |
Blood coagulation disorder |
Pubtator |
32915499 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
27088854, 32915499 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus carinatum |
Congenital Pectus Carinatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
34907471, 37372334 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
25348405, 25356899, 27545675 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontotemporal dementia |
Frontotemporal dementia |
BEFREE |
24290757, 27623008 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontotemporal Dementia |
Frontotemporal dementia |
Pubtator |
27623008 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
29938792 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
31670473 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
37372334 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrostomia |
Macrostomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
20145135, 30120239 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
34014051 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental disorders |
Mental Disorders |
BEFREE |
29938792 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
31670473 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE |
Syndromic Mental Retardation, X-Linked |
GENOMICS_ENGLAND_DG |
27545675 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE |
Syndromic Mental Retardation, X-Linked |
UNIPROT_DG |
27545675 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE |
Syndromic Mental Retardation, X-Linked |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE |
Syndromic Mental Retardation, X-Linked |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myasthenic Syndromes Congenital |
Myasthenic syndrome |
Pubtator |
19147685, 26282582 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myasthenic Syndromes, Congenital |
Myasthenic Syndrome |
BEFREE |
18806275, 19147685, 26282582 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myotonic Dystrophy |
Myotonic dystrophy |
Pubtator |
16027111, 16946708 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYOTONIC DYSTROPHY 1 |
Myotonic dystrophy |
BEFREE |
16946708 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
27623008 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
27545675 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Obsessive compulsive behavior |
Obsessive-Compulsive Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
37399401 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rett Syndrome |
Rett syndrome |
Pubtator |
37372334 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
34907471, 37372334 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |