| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Arthrogryposis |
Arthrogryposis multiplex congenita |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of brain |
Brain malformation |
BEFREE |
29048727 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cortical Dysplasia |
Cortical Dysplasia |
CTD_human_DG |
23603762 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cortical Dysplasia |
Cortical Dysplasia |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 |
Cortical Dysplasia With Other Brain Malformations |
UNIPROT_DG |
23033978, 23603762, 24812067, 29048727 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 |
Cortical Dysplasia With Other Brain Malformations |
CLINVAR_DG |
23033978, 24812067, 26633545 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 |
Cortical Dysplasia With Other Brain Malformations |
GENOMICS_ENGLAND_DG |
23603762, 29048727 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 |
Cortical Dysplasia With Other Brain Malformations |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Developmental Disabilities |
Developmental disability |
Pubtator |
29048727 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy |
Epilepsy |
BEFREE |
29048727 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
29048727 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy Benign Neonatal |
Benign neonatal epilepsy |
Pubtator |
29048727 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
7501111 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
7501111 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Henoch-Schoenlein Purpura |
Henoch-Schonlein Nephritis |
BEFREE |
22714410 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
24812067 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Language Disorders |
Language development disorders |
Pubtator |
29048727 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lissencephaly |
Lissencephaly |
Pubtator |
25140959 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macular dystrophy corneal type 1 |
Macular dystrophy |
Pubtator |
29048727 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macular dystrophy, corneal type 1 |
Macular corneal dystrophy |
BEFREE |
23603762, 29048727 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malformations of Cortical Development |
Malformation of cortical development |
CTD_human_DG |
23603762 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malformations of Cortical Development |
Cortical development malformation |
Pubtator |
29048727 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Microcephaly |
Microcephaly |
CTD_human_DG |
23603762 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Microlissencephaly |
Microlissencephaly |
CTD_human_DG |
23603762 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
31844033 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
29048727 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pachygyria |
Pachygyria |
BEFREE |
25140959 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pena-Shokeir syndrome type I |
Pena Shokeir syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymicrogyria |
Polymicrogyria |
Pubtator |
29048727 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymicrogyria |
Polymicrogyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe Congenital Microcephaly |
Congenital Microcephaly |
CTD_human_DG |
23603762 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic paraplegia 10, autosomal dominant |
Spondylometaphyseal dysplasia |
BEFREE |
12355402 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia, Hereditary |
Spastic paraplegia |
BEFREE |
12355402, 18245137 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Quadriplegia |
Spastic Quadriplegia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid cancer medullary |
Medullary thyroid cancer |
Pubtator |
36713370 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |