| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acquired Kyphoscoliosis |
Acquired Kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
33083483, 37074818 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Anemia |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anorexia |
Anorexia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Dissection |
Aortic dissection |
Pubtator |
33083483 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Valve Insufficiency |
Aortic Valve Insufficiency |
BEFREE |
30354298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Valve Insufficiency |
Aortic valve disease |
Pubtator |
30354298 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
26411684 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis |
Arthritis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis, Gouty |
Gouty arthritis |
GWASDB_DG |
23263486 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
26411684 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorder |
Autism |
Pubtator |
31413120 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune disease |
Pubtator |
23830516 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bicuspid aortic valve |
Bicuspid aortic valve |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bladder Diverticulum |
Bladder Diverticulum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharophimosis |
Blepharophimosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases Metabolic |
Bone disease |
Pubtator |
21092186 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
19252981, 24366300 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
24366300 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
28816938, 31407220, 33656238, 36809979 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular Diseases |
BEFREE |
27854512 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| cervical cancer |
Cervical Cancer |
BEFREE |
31782782 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cervix carcinoma |
Cervix carcinoma |
BEFREE |
31782782 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic neoplasm |
Pubtator |
32144313 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
24055811, 31409643 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
32144313 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of kidney |
Renal hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital kyphoscoliosis |
Congenital kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Arteriosclerosis |
Coronary Arteriosclerosis |
BEFREE |
19571538, 21726544, 25179879 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Coronary Artery Disease |
Coronary artery disease |
BEFREE |
19571538, 21726544, 25179879 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Coronary Artery Disease |
Coronary artery disease |
Pubtator |
25179879 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Coronary Disease |
Coronary artery disease |
Pubtator |
23840567, 29848931, 37074818 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
19571538, 21726544, 23840567, 25179879, 29848931 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Coronary Stenosis |
Coronary Stenosis |
BEFREE |
25179879 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Stenosis |
Coronary stenosis |
Pubtator |
25179879 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Stenosis |
Coronary Stenosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cutis Laxa |
Cutis Laxa |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
18596051, 22466288, 31505737 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
18596051, 22466288, 31505737 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Diabetes Mellitus |
Diabetes mellitus |
Pubtator |
32144313, 35908073 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Diabetes Mellitus |
Diabetes Mellitus |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
19680233, 30956117 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
23209190 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
19680233, 22749234, 23209190, 30029691, 30047462, 30420491, 31623194 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
GWASCAT_DG |
29632382 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathy |
Diabetic Nephropathy |
BEFREE |
24616092, 28121358, 30420491, 31813922 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyslipidemias |
Dyslipidemias |
Pubtator |
22840581, 34270325 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyslipidemias |
Dyslipidemias |
BEFREE |
29858861, 31309533 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver |
Fatty Liver |
BEFREE |
21084751, 21471514, 22546860, 23022226, 26526060, 27919710, 27992582, 28855500, 29107286, 29534306, 30405056, 31227231, 31809000 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver |
Fatty liver |
Pubtator |
25406988, 29786745 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver Disease |
Fatty Liver |
BEFREE |
31227231 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrosis, Liver |
Liver Fibrosis |
BEFREE |
28123933 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Food intolerance (disorder) |
Food Intolerance |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gangrene |
Gangrene |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Diseases |
Gastrointestinal Diseases |
BEFREE |
30158026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glomerulosclerosis (disorder) |
Glomerulosclerosis |
BEFREE |
24616092 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glycogen Storage Disease Type I |
Glycogen Storage Disease |
BEFREE |
20854262 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gout |
Gout |
GWASDB_DG |
23263486 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gout |
Gout |
Pubtator |
29976226 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hepatocellular Adenoma |
Hepatocellular adenoma |
BEFREE |
17379603 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary fructose intolerance syndrome |
Hereditary fructosuria |
BEFREE |
30158026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperglycemia |
Hyperglycemia |
BEFREE |
20551925, 23022226, 23209190 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperinsulinism |
Hyperinsulinism |
BEFREE |
30381838 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperlipidemia |
Hyperlipidemia |
BEFREE |
30405056 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperlipidemia, Familial Combined |
Hyperlipidemia |
BEFREE |
25176936 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertriglyceridemia |
Hypertriglyceridemia |
Pubtator |
24448738 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypodontia |
Hypodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
BEFREE |
30707786 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
21192937 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
24366300 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic pulmonary arterial hypertension |
Pulmonary arterial hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory abnormality of the eye |
Inflammatory abnormality of the eye |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory bowel disease |
Pubtator |
23830516 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Insulin Resistance |
Diabetes mellitus, type 2 |
Pubtator |
19680233 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Irritable Bowel Syndrome |
Irritable Bowel Syndrome |
BEFREE |
30158026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ischemic stroke |
Ischemic Stroke |
BEFREE |
20158509 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure, Chronic |
Kidney Failure |
CTD_human_DG |
19878707 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| leukemia |
Leukemia |
BEFREE |
27224916 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
27224916 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
19052253, 28027934, 29965794, 31407220 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
CTD_human_DG |
21147110 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malabsorption Syndrome |
Malabsorption Syndrome |
BEFREE |
29534502 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
19252981, 24366300 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
28816938, 31407220 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
27919710, 31407220 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of cervix |
Cervical Tumor |
BEFREE |
31782782 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
24366300 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Diseases |
Metabolic Diseases |
BEFREE |
27919710, 29098321 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Diseases |
Metabolic syndrome |
Pubtator |
32144313, 36432414 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome |
Metabolic syndrome |
Pubtator |
38201907 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Metabolic Syndrome X |
Metabolic Syndrome |
BEFREE |
21079391, 28855500 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome X |
Metabolic Syndrome |
GWASCAT_DG |
22399527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome X |
Metabolic Syndrome |
GWASDB_DG |
22399527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microdontia (disorder) |
Microdontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Migraine Disorders |
Migraine |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Monocytosis |
Monocytosis |
BEFREE |
26411684 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial infarction |
Pubtator |
24448738 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myocardial Infarction |
Myocardial Infarction |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neoplasms |
Neoplasms |
BEFREE |
26725848, 27224916 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-alcoholic Fatty Liver Disease |
Non-Alcoholic Fatty Liver Disease |
BEFREE |
26177557, 28027934, 28123933, 29786745, 30047462, 30719457, 30802722, 31004931 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Obesity |
Obesity |
BEFREE |
18596051, 26526060, 28241431, 29531563 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Obesity |
Obesity |
Pubtator |
21840420, 32144313 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Obesity |
Obesity |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteopenia |
Osteopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pelvic kidney |
Pelvic kidney |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral pulmonary artery stenosis |
Peripheral pulmonary artery stenosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
19052253 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
24845031 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary arterial hypertension |
Pulmonary arterial hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Stenosis |
Pulmonary Stenosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rectal Prolapse |
Rectal Prolapse |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Recurrent otitis media |
Otitis media |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Insufficiency |
Renal Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Diseases |
Retinal Diseases |
BEFREE |
24664750 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Diseases |
Retinal Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Speech Disorders |
Speech Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steatohepatitis |
Fatty Liver |
BEFREE |
17379603, 21084751, 21471514, 22546860, 23022226, 26526060, 27919710, 27992582, 28628040, 28855500, 29107286, 29534306, 29786745, 30029691, 30405056, 31227231, 31809000 View all (2 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Supravalvular aortic stenosis |
Supravalvar aortic stenosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Takayasu Arteritis |
Takayasu Arteritis |
ORPHANET_DG |
23830507, 23830516 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Takayasu arteritis |
Takayasu Arteritis |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Takayasu Arteritis |
Takayasu Arteritis |
BEFREE |
24548718, 26996483, 27769046, 30354298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vasculitis |
Vasculitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vesico-Ureteral Reflux |
Vesicoureteral Reflux |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Williams Syndrome |
Williams Syndrome |
BEFREE |
10780788, 11230181, 15163635 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Williams Syndrome |
Williams syndrome |
Pubtator |
31413120 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Williams Syndrome |
Williams Syndrome |
CTD_human_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |