| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acromegaly |
Acromegaly |
BEFREE |
11158006 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma, Clear Cell |
Adenocarcinoma |
BEFREE |
24423449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ADRENOCORTICAL TUMOR, SOMATIC |
Adrenocortical tumor |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Adult Type Ovarian Granulosa Cell Tumor |
Ovarian Tumor |
CGI_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anaplastic carcinoma |
Anaplastic Carcinoma |
CTD_human_DG |
16316942 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Syndromic microphthalmia |
BEFREE |
27578530 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Dissection |
Aortic dissection |
Pubtator |
36959563 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arrhythmogenic Right Ventricular Dysplasia |
Arrhythmogenic right ventricular cardiomyopathy |
Pubtator |
9637720 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrioventricular Block |
Atrioventricular block |
CTD_human_DG |
17277016 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Carcinoma |
Breast Carcinoma |
CTD_human_DG |
18925433 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Burkitt Lymphoma |
Burkitt lymphoma |
Pubtator |
36201743 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
CTD_human_DG |
16316942 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
8649831 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
22491060 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
24423449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Spindle-Cell |
Carcinoma |
CTD_human_DG |
16316942 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholangiocarcinoma |
Cholangiocarcinoma |
Pubtator |
36868481 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis |
Colitis |
BEFREE |
30836096 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
10833069 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic Neoplasms |
BEFREE |
30836096 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Aneurysm |
Coronary aneurysm |
Pubtator |
40141310 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
Pubtator |
40738708 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Essential Hypertension |
Hypertension |
BEFREE |
16565233 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial ventricular tachycardia |
Ventricular tachycardia |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypertension |
Hypertension |
Pubtator |
29906209 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
16565233, 29906209 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory Bowel Disease |
BEFREE |
10833069 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory bowel disease |
Pubtator |
39273699 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
27787898, 31036916 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
31036916 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
20054866 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of adrenal cortex |
Adrenocortical carcinoma |
CGI_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
CTD_human_DG |
18925433 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
8649831 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
24423449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
24423449, 30836096 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
10833069 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Carcinoma, Human |
Marfan Syndrome |
CTD_human_DG |
18925433 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
CTD_human_DG |
18925433 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms, Human |
Mammary Neoplasms |
CTD_human_DG |
18925433 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucocutaneous Lymph Node Syndrome |
Kawasaki disease |
Pubtator |
40141310 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
21079996 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
31036916 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Functioning Pituitary Gland Neoplasm |
Pituitary adenoma |
BEFREE |
19169048 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
Pubtator |
28420501, 38169377 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis, Postmenopausal |
Osteoporosis |
BEFREE |
28420501 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
37537613 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Granulosa Cell Tumor |
Ovarian Tumor |
CGI_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Ovarian Granulosa Cell Tumor |
Ovarian Tumor |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| ovarian neoplasm |
Ovarian neoplasm |
BEFREE |
24423449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
34439877 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paroxysmal ventricular tachycardia |
Paroxysmal ventricular tachycardia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Periventricular Nodular Heterotopia |
Periventricular Nodular Heterotopia |
BEFREE |
27787898 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pituitary-dependent Cushing`s disease |
Pituitary Dependent Hypercortisolism |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Right bundle branch block |
Bundle Branch Block |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
21079996, 32064753 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of tongue |
Tongue carcinoma |
BEFREE |
21079996 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synovitis |
Synovitis |
Pubtator |
29968759 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tachycardia Ventricular |
Ventricular tachycardia |
Pubtator |
9637720 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tumors of Adrenal Cortex |
Tumors Of Adrenal Cortex |
CGI_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Undifferentiated carcinoma |
Carcinoma |
CTD_human_DG |
16316942 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |