| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acquired Kyphoscoliosis |
Acquired Kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthrogryposis |
Arthrogryposis multiplex congenita |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
BEFREE |
22939005 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bulbar palsy |
Bulbar palsy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognitive Dysfunction |
Cognition disorder |
Pubtator |
32776697 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Dysplasia Of The Hip |
Developmental dysplasia of the hip |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital kyphoscoliosis |
Congenital kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Myasthenic Syndromes, Postsynaptic |
Myasthenic Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Myasthenic Syndromes, Presynaptic |
Myasthenic Syndrome |
BEFREE |
25192047 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Myasthenic Syndromes, Presynaptic |
Myasthenic Syndrome |
ORPHANET_DG |
25192047 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Myasthenic Syndromes, Presynaptic |
Myasthenic Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus carinatum |
Congenital Pectus Carinatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deglutition Disorders |
Dysphagia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
Pubtator |
29324989 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal amyotrophy |
Distal amyotrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal Hereditary Motor Neuropathy Type II |
Distal hereditary motor neuropathy |
Pubtator |
33105646 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
GWASCAT_DG |
26220383 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Esotropia |
Esotropia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lambert-Eaton Myasthenic Syndrome |
Lambert-Eaton Myasthenic Syndrome |
BEFREE |
25192047 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
GWASCAT_DG |
27903959 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental disorders |
Mental Disorders |
BEFREE |
26856328 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myasthenias |
Myasthenia Gravis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC |
Myasthenic Syndrome |
UNIPROT_DG |
25192047 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC |
Myasthenic Syndrome |
GENOMICS_ENGLAND_DG |
30533528 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC |
Myasthenic Syndrome |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myasthenic Syndromes Congenital |
Myasthenic syndrome |
Pubtator |
26519543, 32776697 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myasthenic Syndromes, Congenital |
Myasthenic Syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myasthenic Syndromes, Congenital, Slow Channel |
Myasthenic Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
33105646 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
29324989 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteogenesis Imperfecta Type VII |
Osteogenesis imperfecta |
Pubtator |
36722210 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral motor neuropathy |
Motor nerve neuritis |
BEFREE |
25192047, 26519543 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Peripheral nervous system disease |
Pubtator |
26519543 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polyneuropathy, Motor |
Polyneuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Presynaptic congenital myasthenic syndromes |
Myasthenic Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Apnea, Central |
Sleep Apnea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Apnea, Obstructive |
Sleep Apnea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinal muscular atrophy Jerash type |
Spinal muscular atrophy |
Pubtator |
32776697 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sudden episodic apnea |
Sudden episodic apnea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |