| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acid cholesteryl ester hydrolase deficiency, type 2 |
Wolman disease |
GENOMICS_ENGLAND_DG |
12666227, 8254026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acid cholesteryl ester hydrolase deficiency, type 2 |
Wolman disease |
BEFREE |
25624737, 26350820, 27423329, 27878737, 28197978, 28285817, 28502505, 28538091, 28881270, 29339442, 29547398, 30315827, 30540705, 30684275, 30866656, 31004967, 31113597, 31180157, 31182375, 31230978, 31249784, 9684740 View all (7 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acid cholesteryl ester hydrolase deficiency, type 2 |
Wolman disease |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute lymphocytic leukemia |
Lymphocytic Leukemia |
BEFREE |
26618658 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenal calcification |
Adrenal calcification |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Acute Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
26618658 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
26433351 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer disease, familial, type 3 |
Alzheimer disease |
BEFREE |
16730122 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anal carcinoma |
Anal Cancer |
BEFREE |
31641354 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
BEFREE |
29415030 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety Disorders |
Anxiety Disorder |
BEFREE |
29415030 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
16877765, 3778571 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
BEFREE |
18774390 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
Pubtator |
14522500 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
16877765, 28197978, 3778571 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Balkan Nephropathy |
Balkan Nephropathy |
BEFREE |
30277423 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases Metabolic Inborn |
Brain disease |
Pubtator |
22395809 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Ductal Breast |
Ductal carcinoma of breast |
Pubtator |
18271524 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular Diseases |
BEFREE |
24072694 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| cervical cancer |
Cervical Cancer |
BEFREE |
31067838 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cervical Intraepithelial Neoplasia |
Cervical Intraepithelial Neoplasia |
BEFREE |
19235847, 19428748 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cervix carcinoma |
Cervix carcinoma |
BEFREE |
31067838 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Acute Lymphoblastic Leukemia |
Lymphoblastic Leukemia |
BEFREE |
26618658 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholangiocarcinoma |
Cholangiocarcinoma |
Pubtator |
36107601 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholestasis |
Cholestasis |
GENOMICS_ENGLAND_DG |
8254026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholesterol Ester Storage Disease |
Cholesterol Ester Storage Disease |
BEFREE |
10562460, 10627498, 16255772, 18775687, 19307143, 22138108, 23424026, 24072694, 24832708, 25620107, 28197978, 29339442, 29358478, 30056760, 30315827, 30866656, 31435171, 7751811, 7759067, 7773732, 7833918, 8254026, 8725147, 8864960, 8894696, 9365051, 9367797, 9554751, 9633819, 9684740, 9705237 View all (16 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholesterol Ester Storage Disease |
Cholesterol ester storage disease |
Pubtator |
16255772 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholesterol Ester Storage Disease |
Cholesterol Ester Storage Disease |
ORPHANET_DG |
22227072 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholesterol Ester Storage Disease |
Cholesterol Ester Storage Disease |
CLINVAR_DG |
22227072, 8254026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholesterol Ester Storage Disease |
Cholesterol Ester Storage Disease |
CTD_human_DG |
24295952 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholesterol Ester Storage Disease |
Cholesterol Ester Storage Disease |
GENOMICS_ENGLAND_DG |
27604308 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholesteryl ester storage disease |
Cholesterol Ester Storage Disease |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cirrhosis |
Cirrhosis |
BEFREE |
27219619, 28197978, 31113613 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cirrhosis |
Cirrhosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cirrhosis Cryptogenic |
Cirrhosis |
Pubtator |
36326406 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cirrhosis, Cryptogenic |
Cirrhosis |
BEFREE |
27219619, 28396038, 31113613, 31392821, 31435171 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
35172832 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
29569766 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Arteriosclerosis |
Coronary Arteriosclerosis |
BEFREE |
12972290, 21606135, 30866656, 31645127 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Arteriosclerosis |
Coronary Arteriosclerosis |
CTD_human_DG |
21378988 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
BEFREE |
12972290, 21606135, 24069331, 30866656, 31645127 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
Pubtator |
12972290, 21966275, 24069331, 31645127, 35192625 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
CTD_human_DG |
21378988 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
GWASCAT_DG |
26343387, 28714975, 29212778 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 |
Coronary artery disease |
GWASDB_DG |
23202125 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Disease |
Coronary artery disease |
Pubtator |
12972290 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
12972290, 21606135, 23653095, 29547398, 30866656, 31645127 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
GWASDB_DG |
21378988, 21606135, 21966275 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
GWASCAT_DG |
21378988, 21606135 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cystic Fibrosis |
Cystic fibrosis |
Pubtator |
24586523 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
BEFREE |
28436695, 29096523, 29415030, 29788381, 29944663, 30012123, 30209835, 30656489, 31112598, 31312987, 31518448, 31596870, 31744738, 31817584 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes mellitus |
Pubtator |
22395809 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
24069331 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
12965109 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyslipidemias |
Dyslipidemias |
BEFREE |
26350820, 27876313, 28197978, 28502505, 31113613, 31330253 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyslipidemias |
Dyslipidemias |
Pubtator |
31330253, 33108087, 34476902 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Varices |
Esophageal varix |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver |
Fatty liver |
Pubtator |
26927097, 31113613, 31155493, 32058863, 32463622, 34476902 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver |
Fatty Liver |
BEFREE |
28502505, 28900817, 31067824, 31113613 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver |
Fatty Liver |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver Disease |
Fatty Liver |
BEFREE |
31392821 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrosis, Liver |
Liver Fibrosis |
BEFREE |
26350820, 31113613, 31392821 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrosis, Liver |
Liver Fibrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Diseases |
Heart disease |
Pubtator |
26913919 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrops Fetalis |
Hydrops Fetalis |
GENOMICS_ENGLAND_DG |
12666227 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypercholesterolemia |
Hypercholesterolemia |
Pubtator |
12972290 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypercholesterolemia |
Hypercholesterolemia |
Pubtator |
24069331, 31645127, 32058863 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypercholesterolemia |
Hypercholesterolemia |
BEFREE |
24072694, 29523554, 31330253, 31645127 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypercholesterolemia |
Hypercholesterolemia |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypercholesterolemia |
Hypercholesterolemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypercholesterolemia, Familial |
Hypercholesterolemia |
BEFREE |
27423329, 28958330, 31809983 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperlipidemia |
Hyperlipidemia |
BEFREE |
12965109, 12972290, 28502515 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperlipidemias |
Hyperlipidemia |
Pubtator |
34476902, 7751811 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperlipoproteinemia Type II |
Hyperlipoproteinemia |
Pubtator |
179993, 27423329, 29561990, 30269829, 38122934 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperlipoproteinemia Type IIa |
Hyperlipoproteinemia |
BEFREE |
27423329, 28502505, 28958330, 31809983 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
12965109, 28197978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertriglyceridemia |
Hypertriglyceridemia |
Pubtator |
24069331 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoalphalipoproteinemias |
Hypoalphalipoproteinemia |
Pubtator |
24069331, 32058863, 34476902 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic pulmonary arterial hypertension |
Pulmonary arterial hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| INTERSTITIAL NEPHRITIS, KARYOMEGALIC |
Interstitial Nephritis |
BEFREE |
30277423 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoconus |
Keratoconus |
Pubtator |
21701529 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipid Metabolism Disorders |
Lipid Metabolism Disorders |
BEFREE |
28197978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Cirrhosis |
Liver Cirrhosis |
BEFREE |
27219619, 28197978, 28396038, 28587063, 31113613 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Cirrhosis |
Liver cirrhosis |
Pubtator |
27219619 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Cirrhosis |
Liver cirrhosis |
Pubtator |
31113597, 31113613 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Diseases |
Liver disease |
Pubtator |
26927097 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
Pubtator |
26927097, 39201333 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
BEFREE |
28197978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
27836991 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of cervix |
Cervical Tumor |
BEFREE |
31067838 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malnutrition |
Malnutrition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
28924047 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Depression |
Mental Depression |
BEFREE |
28436695, 29096523, 29415030, 29788381, 29944663, 30012123, 30209835, 30656489, 31112598, 31312987, 31518448, 31596870, 31744738, 31817584 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome |
Metabolic syndrome |
Pubtator |
24069331, 27827461 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome |
Metabolic syndrome |
Pubtator |
32463622 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome X |
Metabolic Syndrome |
BEFREE |
12965109, 27827461 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial Infarction |
BEFREE |
24072694 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial infarction |
Pubtator |
24475106 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial Infarction |
GWASCAT_DG |
26343387 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
16120813, 28924047, 30277423 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Niemann-Pick Disease, Type C |
Niemann-Pick Disease |
CTD_human_DG |
20557099 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Niemann-Pick Disease, Type C1 |
Sphingomyelinase deficiency |
CTD_human_DG |
20557099 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Niemann-Pick Disease, Type D |
Sphingomyelinase deficiency |
CTD_human_DG |
20557099 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia |
Hypercholesterolemia |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-alcoholic Fatty Liver Disease |
Non-Alcoholic Fatty Liver Disease |
BEFREE |
23624251, 26602919, 28587063, 28900817, 30315827, 31067824, 31392821, 31435171, 31505261, 31582009 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonalcoholic Steatohepatitis |
Non-alcoholic Fatty Liver Disease |
BEFREE |
31435171 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
12965109, 22395809, 30384448 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
22395809 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
23819652 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancytopenia |
Pancytopenia |
BEFREE |
28587063 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peyronie Disease |
Peyronie Disease |
BEFREE |
28904897 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
27836991 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary arterial hypertension |
Pulmonary arterial hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
19424646 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of lung |
Lung carcinoma |
BEFREE |
19424646 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steatohepatitis |
Fatty Liver |
BEFREE |
28197978, 28502505, 28900817, 31067824, 31113613, 31155493 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steatohepatitis |
Fatty Liver |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wolman Disease |
Wolman Disease |
BEFREE |
10546, 10551400, 10627498, 11177564, 11441129, 11487567, 16255772, 18775687, 19307143, 21291321, 21757691, 22138108, 22227072, 22795295, 23403440, 23424026, 23485521, 23652569, 23999269, 24122380, 24832708, 25345094, 25450374, 25620107, 25624737, 25852113, 2633108, 26350820, 27423329, 27878737, 28197978, 28285817, 28322747, 28502505, 28538091, 28659158, 28881270, 29246491, 29339442, 29358478, 29547398, 30056760, 30315827, 30540705, 30684275, 30866656, 31004967, 31113597, 31180157, 31182375, 31230978, 31249784, 6329310, 7751811, 7759067, 7773732, 7833918, 8146180, 8254026, 8576647, 8598644, 8617513, 8725147, 8864960, 8894696, 9126667, 9365051, 9367797, 9554751, 9633819, 9684740, 9705237 View all (57 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wolman Disease |
Wolman Disease |
CLINVAR_DG |
10562460, 10627498, 11441129, 2129132, 21291321, 21757691, 21963785, 22138108, 22227072, 23424026, 23430518, 23485521, 23583223, 24048164, 24072694, 24792990, 24993530, 25525159, 25620107, 25624737, 26252914, 28502515, 31180157, 7499245, 7759067, 7833918, 8146180, 8254026, 8598644, 8617513, 8864960, 8894696, 9367797, 9554751, 9684740 View all (20 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wolman Disease |
Wolman disease |
Pubtator |
10627498, 179993, 21963785, 22395809, 23424026, 25624737, 32482718, 35606784, 37470904, 8146180, 8864960, 9684740 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wolman Disease |
Wolman Disease |
GENOMICS_ENGLAND_DG |
12666227, 27604308, 8254026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wolman Disease |
Wolman Disease |
ORPHANET_DG |
22227072 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wolman disease |
Wolman Disease |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wolman Disease |
Wolman disease |
Pubtator |
28659158, 34020687 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wolman Disease |
Wolman Disease |
UNIPROT_DG |
8146180, 9633819 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |