| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute lymphocytic leukemia |
Lymphocytic Leukemia |
BEFREE |
12065898, 12743608 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
31692047 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Acute Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
12743608 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bladder Neoplasm |
Bladder Neoplasm |
BEFREE |
30659266 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases, Developmental |
Bone Disease |
CTD_human_DG |
25730767 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
32265480 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
29741610 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of bladder |
Bladder carcinoma |
BEFREE |
30659266 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
37063434 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Acute Lymphoblastic Leukemia |
Lymphoblastic Leukemia |
BEFREE |
12743608 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CHOPS SYNDROME |
CHOPS Syndrome |
BEFREE |
25730767 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHOPS SYNDROME |
CHOPS Syndrome |
UNIPROT_DG |
25730767 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHOPS SYNDROME |
CHOPS Syndrome |
CLINVAR_DG |
25730767 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHOPS SYNDROME |
CHOPS Syndrome |
ORPHANET_DG |
25730767 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHOPS SYNDROME |
CHOPS Syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Chronic lung disease |
Lung Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognitive disorder |
CTD_human_DG |
25730767 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cognition Disorders |
Cognition disorder |
Pubtator |
25730767 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome |
CHOPS Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Heart Defects |
Congenital heart defects |
BEFREE |
25730767 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Heart Defects |
Congenital heart defects |
CTD_human_DG |
25730767 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cornelia De Lange Syndrome |
Cornelia De Lange Syndrome |
BEFREE |
25730767 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| De Lange Syndrome |
De lange syndrome |
Pubtator |
25730767 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic Encephalopathy Early Infantile 3 |
Developmental and epileptic encephalopathy |
Pubtator |
25730767 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exophthalmos |
Proptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
25730767 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Heart Defects Congenital |
Congenital heart defect |
Pubtator |
25730767 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Septal Defects |
Heart Septal Defects |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
25730767 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Laryngomalacia |
Laryngomalacia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
12065898, 20159561, 22547686 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
22547686 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
37063434 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
GWASCAT_DG |
27903959 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung diseases |
Lung Diseases |
CTD_human_DG |
25730767 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lymphoid leukemia |
Lymphoid leukemia |
BEFREE |
22547686 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of urinary bladder |
Urinary bladder cancer |
BEFREE |
30659266 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
22547686 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CTD_human_DG |
25730767 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
36989355 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
25730767 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Obesity |
Obesity |
CTD_human_DG |
25730767 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Obesity |
Obesity |
Pubtator |
25730767, 39743445 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Obesity |
Obesity |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteochondrodysplasias |
Osteochondrodysplasia |
BEFREE |
25730767 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
34686190 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatitis |
Pancreatitis |
Pubtator |
37063434 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor B-cell lymphoblastic leukemia |
Lymphoblastic Leukemia |
BEFREE |
12743608 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor B-Cell Lymphoblastic Leukemia-Lymphoma |
Lymphoblastic Leukemia |
BEFREE |
12743608 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Lymphoblastic Leukemia |
BEFREE |
12065898 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Lymphoblastic Leukemia |
LHGDN |
12065898 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia |
Skeletal Dysplasia |
BEFREE |
25730767 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
29741610 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of the head and neck |
Carcinoma Of The Head And Neck |
BEFREE |
29741610 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tracheal Stenosis |
Tracheal Stenosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vesico-Ureteral Reflux |
Vesicoureteral Reflux |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |