| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alternating hemiplegia of childhood |
Alternating Hemiplegia |
BEFREE |
30650451 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia, Macrocytic |
Anemia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arrhythmias Cardiac |
Cardiac arrhythmias |
Pubtator |
26805781, 26805782, 35691983 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain atrophy |
Brain atrophy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
26805782 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases Metabolic |
Brain disease |
Pubtator |
35691983 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular Diseases |
GWASCAT_DG |
30595370 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar atrophy |
Cerebellar atrophy |
CLINVAR_DG |
26805781 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
26805782 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
CLINVAR_DG |
26805781 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
CLINVAR_DG |
26805781 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
BEFREE |
26805782, 31339582 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exotropia |
Exotropia |
CLINVAR_DG |
26805781 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
26805781 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Global developmental delay |
Developmental Delay |
BEFREE |
31276219 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Heart Diseases |
Heart disease |
Pubtator |
26805781 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperammonemia |
Hyperammonemia |
Pubtator |
26805781 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
BEFREE |
26805781, 31339582 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
CLINVAR_DG |
26805781 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
Pubtator |
26805781, 26805782 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
CLINVAR_DG |
26805781 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
31339582 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intermittent lactic acidemia |
Intermittent lactic acidemia |
CLINVAR_DG |
26805781 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ketonuria |
Ketonuria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
27902461 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
CLINVAR_DG |
26805781 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Diseases |
Metabolic syndrome |
Pubtator |
37460236 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oropharyngeal Dysphagia |
Oropharyngeal Dysphagia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
27902461 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
27902461 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdomyolysis |
Rhabdomyolysis |
Pubtator |
26805781, 26805782, 32978841 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
CLINVAR_DG |
26805781 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia Hereditary |
Hereditary spastic paraplegia |
Pubtator |
26805782 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Fibrillation |
Ventricular Fibrillation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |