| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
28012229 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
28012229 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of corpus callosum |
Agenesis Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alport Syndrome |
Alport Syndrome |
BEFREE |
14524583 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
Nocturnal Epilepsy |
BEFREE |
10563623, 10643924, 19237585 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
CTD_human_DG |
21339737 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choanal Atresia |
Choanal Atresia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholangiocarcinoma |
Cholangiocarcinoma |
BEFREE |
19655168 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coloboma of optic disc |
Coloboma of optic disc |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital coloboma of iris |
Congenital Coloboma Of Iris |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia |
Corpus Callosum, Agenesis, With Mental Retardation, Ocular Coloboma, And Micrognathia |
GENOMICS_ENGLAND_DG |
14556245 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia |
Corpus Callosum, Agenesis, With Mental Retardation, Ocular Coloboma, And Micrognathia |
ORPHANET_DG |
14556245 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia |
Corpus Callosum, Agenesis, With Mental Retardation, Ocular Coloboma, And Micrognathia |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
31875416 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| FG syndrome |
FG Syndrome |
BEFREE |
12203739 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematuria, Benign Familial |
Hematuria |
BEFREE |
14524583, 8787673 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
23871722 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
CTD_human_DG |
21339737 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung Neoplasms |
CTD_human_DG |
21339737 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lupus Erythematosus, Systemic |
Lupus Erythematosus |
BEFREE |
31137925 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Nephritis |
Lupus Nephritis |
BEFREE |
31137925 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Nephritis |
Lupus nephritis |
Pubtator |
31137925 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma Follicular |
Lymphoma |
Pubtator |
24357726 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
CTD_human_DG |
21339737 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
CTD_human_DG |
21339737 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Carcinoma, Human |
Marfan Syndrome |
CTD_human_DG |
21339737 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
CTD_human_DG |
21339737 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms, Human |
Mammary Neoplasms |
CTD_human_DG |
21339737 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephritis |
Nephritis |
BEFREE |
31137925 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Opitz GBBB Syndrome, X-Linked |
Opitz GBBB Syndrome, X-Linked |
BEFREE |
12203739 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seasonal Affective Disorder |
Seasonal Affective Disorder |
BEFREE |
14614915 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
18697202 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |