| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
16189157 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Medulloblastoma |
Medulloblastoma |
BEFREE |
21652733 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Medulloblastoma |
Medulloblastoma |
CTD_human_DG |
21652733 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer`s Disease |
Alzheimer disease |
GWASCAT_DG |
26830138 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Medulloblastoma |
Medulloblastoma |
BEFREE |
21652733 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Medulloblastoma |
Medulloblastoma |
CTD_human_DG |
21652733 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
17921699 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Desmoplastic Medulloblastoma |
Medulloblastoma |
CTD_human_DG |
21652733 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
30311510 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
21890410, 28688840 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Epilepsy |
Epilepsy |
Pubtator |
30311510 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Epilepsy Generalized |
Generalized epilepsy |
Pubtator |
33619909 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy, Rolandic |
Epilepsy |
CLINVAR_DG |
29358611 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrostomia |
Macrostomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Medulloblastoma |
Medulloblastoma |
BEFREE |
21652733 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Medulloblastoma |
Medulloblastoma |
CTD_human_DG |
21652733 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Medulloblastoma |
Medulloblastoma |
Pubtator |
21652733 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Medullomyoblastoma |
Medullomyoblastoma |
CTD_human_DG |
21652733 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
18854318 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanotic medulloblastoma |
Medulloblastoma |
CTD_human_DG |
21652733 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloproliferative disease |
Myeloproliferative disorder |
BEFREE |
16879967 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
16879967, 19513107, 20110331 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
28688840, 30311510 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peutz-Jeghers Syndrome |
Peutz-Jeghers Syndrome |
BEFREE |
16189157 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
GENOMICS_ENGLAND_DG |
20424326, 28688840, 30311510 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
ORPHANET_DG |
27170158, 28688840 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
22509301 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |