| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Anemia Sickle Cell |
Sickle cell anemia |
Pubtator |
21264913 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Aneurysm |
Aortic Aneurysm |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Valve Insufficiency |
Aortic Valve Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrophy |
Atrophy |
Pubtator |
19384555 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bilateral Periventricular Nodular Heterotopia |
Periventricular heterotopia |
BEFREE |
19384555, 26126837 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
29207087, 30335191, 31134488 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Burkitt Lymphoma |
Burkitt lymphoma |
Pubtator |
27155012 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
BEFREE |
26126837 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
33258187 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystonia Disorders |
Dystonia |
BEFREE |
25160555 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
31199673 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
31199673 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
15996530 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Heterotopia, Periventricular, Autosomal Recessive |
Periventricular heterotopia |
UNIPROT_DG |
14647276, 23812912, 25160555 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Heterotopia, Periventricular, Autosomal Recessive |
Periventricular heterotopia |
GENOMICS_ENGLAND_DG |
14647276 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Heterotopia, Periventricular, Autosomal Recessive |
Periventricular heterotopia |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Heterotopia, Periventricular, Autosomal Recessive |
Periventricular heterotopia |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Huntington Disease |
Huntington Disease |
BEFREE |
21309479 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Huntington Disease |
Huntington disease |
Pubtator |
21309479 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
BEFREE |
23812912 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malformations of Cortical Development Group II |
Cortical development malformation |
Pubtator |
19384555 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malformations of Cortical Development, Group II |
Malformation of cortical development |
BEFREE |
19384555 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
29207087, 30335191, 31134488 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
BEFREE |
15996530, 16684786, 19073947, 19384555, 23755938, 23812912, 26126837 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Microcephaly |
Microcephaly |
Pubtator |
19384555 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Movement Disorders |
Movement disorder |
Pubtator |
19384555 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
BEFREE |
26126837 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
16320251 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obsessive-Compulsive Disorder |
Obsessive-Compulsive Disorder |
BEFREE |
29035919 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paroxysmal nocturnal hemoglobinuria |
Paroxysmal nocturnal hemoglobinuria |
BEFREE |
16684786, 30683929 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Periventricular Nodular Heterotopia |
Periventricular Nodular Heterotopia |
ORPHANET_DG |
14647276, 25160555 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Periventricular nodular heterotopia |
Periventricular Nodular Heterotopia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Periventricular Nodular Heterotopia |
Periventricular Nodular Heterotopia |
BEFREE |
15996530, 16320251, 18996916, 19073947, 23755938, 23812912, 24056535, 25160555 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Periventricular Nodular Heterotopia |
Periventricular nodular heterotopia |
Pubtator |
19384555 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Periventricular Nodular Heterotopia |
Periventricular Nodular Heterotopia |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Periventricular Nodular Heterotopia |
Periventricular Nodular Heterotopia |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Secondary microcephaly |
Microcephaly |
BEFREE |
19384555 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| West Syndrome |
West Syndrome |
BEFREE |
23812912 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |