| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Ataxia |
Ataxia |
Pubtator |
31413903, 35326432 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) |
Ataxia |
ORPHANET_DG |
24319291, 24482476 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) |
Ataxia |
UNIPROT_DG |
24319291, 24482476 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) |
Ataxia |
CLINVAR_DG |
24319291, 24482476, 26633545, 28687974 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) |
Ataxia |
GENOMICS_ENGLAND_DG |
24319291, 24808017 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) |
Ataxia |
BEFREE |
30067756 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) |
Ataxia |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION |
Ataxia, spastic with optic atrophy and mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial myxoma familial |
Atrial myxoma |
Pubtator |
37452081 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal spastic paraplegia type 58 |
Spastic Paraplegia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cerebellar Ataxia |
Cerebellar ataxia |
Pubtator |
24808017, 31413903 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Cerebellar atrophy |
Cerebellar atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Diseases |
Cerebellar Diseases |
BEFREE |
24319291, 29544888 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Diseases |
Cerebellar diseases |
Pubtator |
35326432, 35961316 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Demyelinating Diseases |
Demyelinating diseases |
Pubtator |
31413903 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal amyotrophy |
Distal amyotrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystonia |
Dystonia |
Pubtator |
31413903 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Henoch-Schoenlein Purpura |
Henoch-Schonlein Nephritis |
BEFREE |
24808017, 29544888 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Horizontal Nystagmus |
Horizontal nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypodontia |
Hypodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mild Mental Retardation |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Motor Neuron Disease |
Motor neuron disease |
Pubtator |
35961316 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement disorder |
Pubtator |
31413903 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
33161238 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progressive cerebellar ataxia |
Cerebellar Ataxia |
BEFREE |
30067756 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Ataxia |
Spastic ataxia |
Pubtator |
31413903, 35326432 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic Ataxia |
Spastic Ataxia |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic Paraplegia |
Spastic Paraplegia |
BEFREE |
24319291 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic paraplegia 11 autosomal recessive |
Spastic paraplegia |
Pubtator |
24808017 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia Hereditary |
Hereditary spastic paraplegia |
Pubtator |
24808017, 31413903, 33161238, 35961316 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia, Hereditary |
Spastic paraplegia |
BEFREE |
28195350, 29544888 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Tremor |
Tremor |
Pubtator |
31413903 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |