| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
29378629 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
BEFREE |
29378629 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
Pubtator |
29378629 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune disease |
Pubtator |
25101798 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Awakening Epilepsy |
Epilepsy |
CTD_human_DG |
25362483 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complex partial seizure with impairment of consciousness |
Dyscognitive seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complex partial seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cortical Dysplasia |
Cortical Dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
33677401 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskinetic syndrome |
Dyskinetic Syndrome |
BEFREE |
30534049 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
BEFREE |
26818399 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsies Partial |
Partial epilepsy |
Pubtator |
33677401 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
25362483, 26818399, 29101845, 30378543 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy |
Epilepsy |
CTD_human_DG |
25362483 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy |
Epilepsy |
Pubtator |
30737342, 33677401 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy Generalized |
Generalized epilepsy |
Pubtator |
30737342 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy, Cryptogenic |
Epilepsy |
CTD_human_DG |
25362483 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic drop attack |
Hypotonic seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic Encephalopathy Early Infantile 3 |
Developmental and epileptic encephalopathy |
Pubtator |
33677401 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Episodic Kinesigenic Dyskinesia 1 |
Episodic Kinesigenic Dyskinesia |
BEFREE |
30009426 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Febrile Convulsions |
Febrile seizures |
CTD_human_DG |
25362483 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Febrile Convulsions |
Febrile seizures |
BEFREE |
26818399, 29101845 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Febrile Convulsions |
Febrile seizures |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Generalized Epilepsy with Febrile Seizures Plus |
Generalized Epilepsy With Febrile Seizures Plus |
ORPHANET_DG |
25362483 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Generalized Epilepsy With Febrile Seizures Plus Type 1 |
Generalized epilepsy with febrile seizures plus |
Pubtator |
36652844 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 |
Epilepsy With Febrile Seizures Plus |
GENOMICS_ENGLAND_DG |
25362483 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 |
Epilepsy With Febrile Seizures Plus |
UNIPROT_DG |
25362483 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 |
Epilepsy With Febrile Seizures Plus |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 |
Epilepsy With Febrile Seizures Plus |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Generalized epilepsy with febrile seizures-plus |
Epilepsy With Febrile Seizures Plus |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized myoclonic seizures |
Myoclonic Seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lafora Disease |
Lafora Disease |
BEFREE |
28917824 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lewy Body Disease |
Lewy body disease |
Pubtator |
28917824 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus Systemic |
Systemic lupus erythematosus |
Pubtator |
21436623 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
CLINVAR_DG |
25362483, 27781031, 8105537 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myoclonic Astatic Epilepsy |
Myoclonic Astatic Epilepsy |
BEFREE |
26818399 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYOCLONIC-ATONIC EPILEPSY |
Myoclonic-Atonic Epilepsy |
BEFREE |
26818399 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obtundation status |
Obtundation status |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
21738488, 25534083, 26224037, 28917824, 30719275, 30880162 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Parkinson Disease |
Parkinson disease |
Pubtator |
28917824 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Paroxysmal kinesigenic choreoathetosis |
Paroxysmal kinesigenic choreoathetosis |
BEFREE |
30009426 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psoriasis |
Psoriasis |
GWASDB_DG |
23143594 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Psoriasis |
Psoriasis |
GWASCAT_DG |
23143594, 25903422 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Psoriasis vulgaris |
Psoriasis vulgaris |
GWASCAT_DG |
26626624 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Seizure, Febrile, Complex |
Seizure |
CTD_human_DG |
25362483 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizure, Febrile, Simple |
Seizure |
CTD_human_DG |
25362483 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
30737342 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures Febrile |
Seizures |
Pubtator |
33677401 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tonic - clonic seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |