| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Brain Neoplasms |
Brain Neoplasms |
BEFREE |
15147888 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Neoplasms |
Brain neoplasms |
Pubtator |
15147888 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
20508983 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
GWASCAT_DG |
30787463 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
20508983 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
24133592 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central hypothyroidism |
Central hypothyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choroid Plexus Papilloma |
Choroid Plexus Papilloma |
BEFREE |
27766460 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic myeloproliferative disorder |
Myeloproliferative disorder |
BEFREE |
15087377, 22933543 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Periodontitis |
Periodontitis |
BEFREE |
23459936, 25056994, 30765789 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Periodontitis |
Periodontitis |
Pubtator |
23459936, 25056994, 30765789, 36360171 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of fingers |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital small ears |
Microtia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
22933543 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
20529377 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Neoplasms |
Kidney neoplasm |
Pubtator |
25420906 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lumbar scoliosis |
Lumbar scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus, Systemic |
Lupus Erythematosus |
GWASCAT_DG |
24925725 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Nephritis |
Lupus Nephritis |
GWASCAT_DG |
24925725 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Madelung Deformity |
Madelung deformity |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
20508983 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephalic primordial dwarfism, Dauber type |
Microcephalic Primordial Dwarfism |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloproliferative disease |
Myeloproliferative disorder |
BEFREE |
15087377 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloproliferative Disorders |
Myeloproliferative disorder |
Pubtator |
15087377 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal carcinoma |
Nasopharyngeal Carcinoma |
BEFREE |
16912175 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
20056645 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary physiologic amenorrhea |
Physiologic Amenorrhea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seckel syndrome |
Seckel Syndrome |
BEFREE |
22933543, 23665482 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Seckel syndrome 1 |
Seckel syndrome |
Pubtator |
22933543 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| SECKEL SYNDROME 7 |
Seckel Syndrome |
ORPHANET_DG |
22933543 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| SECKEL SYNDROME 7 |
Seckel Syndrome |
GENOMICS_ENGLAND_DG |
22933543, 23665482 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| SECKEL SYNDROME 7 |
Seckel Syndrome |
UNIPROT_DG |
22933543 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| SECKEL SYNDROME 7 |
Seckel Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spondyloepimetaphyseal dysplasia with multiple dislocations |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
BEFREE |
23665482 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| TROPICAL CALCIFIC PANCREATITIS |
TROPICAL CALCIFIC PANCREATITIS |
BEFREE |
27766460 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |