| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute leukemia |
Leukemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
35766008, 38176923 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
36195955 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia |
Anemia |
Pubtator |
32241839 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia, Diamond-Blackfan |
Anemia |
BEFREE |
18535205, 19773262, 20378560, 21435509, 22045982, 22510774, 28432740 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Anemia, Diamond-Blackfan |
Anemia |
LHGDN |
18535205 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Anemia, Diamond-Blackfan |
Anemia |
GENOMICS_ENGLAND_DG |
18535205, 28297620 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Anemia, Diamond-Blackfan |
Anemia |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Anemia, Macrocytic |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anhedonia |
Anhedonia |
Pubtator |
20378560 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blackfan-Diamond anemia |
Blackfan-Diamond Anemia |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Neoplasms |
Brain Neoplasms |
BEFREE |
12175552 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
12521301 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chromosome 5q Deletion Syndrome |
Chromosome 5q deletion syndrome |
Pubtator |
20378560 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniofacial Abnormalities |
Craniofacial abnormalities |
Pubtator |
32241839 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diamond-Blackfan Anemia 5 |
Diamond-Blackfan anemia |
CLINVAR_DG |
18535205, 25946618 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Diamond-Blackfan Anemia 5 |
Diamond-Blackfan anemia |
UNIPROT_DG |
18535205 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Diamond-Blackfan Anemia 5 |
Diamond-Blackfan anemia |
GENOMICS_ENGLAND_DG |
18535205 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Diamond-Blackfan Anemia 5 |
Diamond-Blackfan anemia |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Erythroid hypoplasia |
Erythroid hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
12175552 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypospadias |
Hypospadias |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
32241839 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukopenia |
Leukopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
12521301 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Migraine Disorders |
Migraine |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutropenia |
Neutropenia |
Pubtator |
32241839 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
38256104 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |