| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute leukemia |
Leukemia |
BEFREE |
9539779 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Albinism, Oculocutaneous |
Oculocutaneous albinism |
BEFREE |
17931990 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alternating hemiplegia of childhood |
Alternating hemiplegia of childhood |
Pubtator |
31633027 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic coarctation |
Aortic Coarctation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Valve Stenosis |
Aortic Valve Sclerosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
21069739, 30529831 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
BEFREE |
30929126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
21069739, 30529831 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
Pubtator |
30529831, 37039367 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bicuspid aortic valve |
Bicuspid aortic valve |
BEFREE |
30720060 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bicuspid aortic valve |
Bicuspid aortic valve |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharophimosis Ptosis and Epicanthus Inversus |
Blepharophimosis-ptosis-epicanthus inversus syndrome |
Pubtator |
29478779 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
12525252, 19154418, 22966133, 25129343 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
19154418, 20386594, 23292282, 24141032, 24513177, 32168782, 32631390 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
36011369 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
15289311, 29207189 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
23690307 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiac defects |
Cardiac Defects |
BEFREE |
29478779 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Abnormalities |
Cardiovascular abnormalities |
Pubtator |
37039367 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular disease |
Pubtator |
37039367 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choriocarcinoma |
Choriocarcinoma |
BEFREE |
8782080 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Periodontitis |
Periodontitis |
BEFREE |
30409304 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
25032732, 26800338, 28943908 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal Neoplasms |
LHGDN |
19082449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
34070923 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complete atrioventricular septal defect with ventricular hypoplasia |
Complete Atrioventricular Septal Defect With Ventricular Hypoplasia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Complete atrioventricular septal defect-tetralogy of Fallot |
Complete Atrioventricular Septal Defect-Tetralogy Of Fallot |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital diaphragmatic hernia |
Congenital diaphragmatic hernia |
BEFREE |
15750894, 19853750, 23165927, 24122781, 27363585, 29570242 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Heart Defects |
Congenital heart defects |
BEFREE |
21172461, 24702954, 29222010, 29570242, 29663647 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 |
Congenital heart defects |
UNIPROT_DG |
24702954 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 |
Congenital heart defects |
GENOMICS_ENGLAND_DG |
24702954 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 |
Congenital heart defects |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 |
Congenital heart defects |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Congenital hypoplasia of adrenal gland |
Congenital adrenal hypoplasia |
BEFREE |
24295738 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of lung |
Pulmonary hypoplasia |
BEFREE |
19853750 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
31368079 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
24702954, 29222010, 29866040 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Double Outlet Right Ventricle |
Double Outlet Right Ventricle |
BEFREE |
29222010, 29866040 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Double Outlet Right Ventricle |
Double outlet right ventricle |
Pubtator |
29866040 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Double Outlet Right Ventricle |
Double Outlet Right Ventricle |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
10215630, 15750894, 16251273, 18371933, 18798693, 21172461, 24702427, 24702954, 26633542, 28135719 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
BEFREE |
29663647 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endocrine System Diseases |
Endocrine system disease |
Pubtator |
24141032 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrioma |
Endometrioma |
CTD_human_DG |
22138541 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
BEFREE |
15299092, 29982401 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Endometriosis |
Endometriosis |
CTD_human_DG |
22138541 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
32707495, 33541291 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
29928345, 30929126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
29928345, 30929126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
29928345, 30929126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
36980858 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Defects Congenital |
Congenital heart defect |
Pubtator |
27363585, 29478779, 29866040, 37039367 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Diseases |
Heart disease |
Pubtator |
29478779, 32037394, 37039367 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Septal Defects Atrial |
Congenital heart septal defect |
Pubtator |
27363585 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplastic Left Heart Syndrome |
Hypoplastic Left Heart Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immunologic Deficiency Syndromes |
Immunologic Deficiency Syndromes |
BEFREE |
23925294 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Insulin Resistance |
Diabetes mellitus, type 2 |
Pubtator |
37898813 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intestinal Diseases |
Intestinal disease |
Pubtator |
25800782 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intussusception |
Intussusception |
BEFREE |
28859090 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney disease |
Pubtator |
31000673 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure, Acute |
Kidney Failure |
BEFREE |
31801919 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
1321332 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver neoplasms |
Liver neoplasms |
BEFREE |
1321332 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
19154418, 30592135 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
12525252, 22966133, 25129343 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
31158411 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
15289311, 29207189 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
23690307 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
22293856, 26895100 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
22966133, 23690307, 24295738, 24513177, 25129343, 26895100, 27844448, 28943908, 29207189, 29928345 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
24513177 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Maturity onset diabetes mellitus in young |
Mason type diabetes |
BEFREE |
10331424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Maturity-Onset Diabetes of the Young, Type 1 |
Mason type diabetes |
BEFREE |
11435618 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
37015919 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
10215630, 15750894, 16251273, 18371933, 18798693, 21172461, 24702427, 24702954, 26633542, 28135719 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
BEFREE |
26976208, 30701025, 31213901, 9454907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
25032732, 26800338, 30929126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteonecrosis |
Osteonecrosis |
Pubtator |
31886265 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Diseases |
Ovarian diseases |
Pubtator |
16815388 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| ovarian neoplasm |
Ovarian neoplasm |
BEFREE |
23690307 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
23690307 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
Pubtator |
35513515 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Partial atrioventricular canal |
Partial atrioventricular canal defect |
ORPHANET_DG |
24702954 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Partial defect of atrioventricular canal |
Partial Defect Of Atrioventricular Canal |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
22293856, 26895100 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
23690307 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Venous Return Anomaly |
Pulmonary Venous Return Anomaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
31368079 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinoblastoma |
Retinoblastoma |
Pubtator |
37603355 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seminoma |
Seminoma |
Pubtator |
31965022 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Situs ambiguus |
Situs ambiguus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinocerebellar Ataxia Type 5 |
Spinocerebellar Ataxia |
BEFREE |
20603325 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Subfertility, Female |
Subfertility |
CTD_human_DG |
17590085 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tetralogy of Fallot |
Tetralogy of fallot |
Pubtator |
24479926 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Tetralogy of Fallot |
Tetralogy of Fallot |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thalassemia |
Thalassemia |
Pubtator |
32107331 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Transient Ischemic Attack |
Transient Ischemic Attack |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
36451815 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
32469064 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Fibroids |
Uterine Fibroids |
BEFREE |
23704310 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular Diseases |
Vascular disease |
Pubtator |
37039367 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Remodeling |
Ventricular remodeling |
Pubtator |
37039367 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
BEFREE |
29222010 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wilms Tumor |
Wilms tumor |
Pubtator |
30671724 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| X-linked Adrenal Hypoplasia |
Adrenal Hypoplasia, X-Linked |
BEFREE |
24295738 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |