| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Aggressive Periodontitis |
Aggressive Periodontitis |
BEFREE |
11762875 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alport Syndrome |
Alport Syndrome |
BEFREE |
28843411 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
18721259, 26856603 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease, Late Onset |
Alzheimer disease |
BEFREE |
11425005 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Androgen-Insensitivity Syndrome |
Androgen-Insensitivity Syndrome |
BEFREE |
30261857 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia |
Anemia |
BEFREE |
24795345 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia, Diamond-Blackfan |
Anemia |
BEFREE |
26109203 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Rheumatoid |
Rheumatoid arthritis |
Pubtator |
36973646 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astigmatism |
Astigmatism |
Pubtator |
39444998 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
Pubtator |
32939876 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Septal Defects |
Atrial Septal Defect |
BEFREE |
12393179 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Biliary Tract Cancer |
Biliary Tract Cancer |
BEFREE |
21062971 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
2407334, 6382261 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of bladder |
Bladder carcinoma |
BEFREE |
3525957 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
21325077 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
3276289 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular Diseases |
BEFREE |
28760704 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholelithiasis |
Cholelithiasis |
BEFREE |
16704534, 17913606 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Kidney Diseases |
Kidney Disease |
BEFREE |
28843411 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
32939876 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Heart Defects |
Congenital heart defects |
BEFREE |
12393179 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital heart disease |
Congenital Heart Disease |
BEFREE |
31163262 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
10897012, 15086915 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
12393179 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
BEFREE |
31273495 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
12935785 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
BEFREE |
18721259 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
LHGDN |
18721259 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia Vascular |
Vascular dementia |
Pubtator |
18721259 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive Disorder |
Major depressive disorder |
Pubtator |
22348086 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
29795979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
29795979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes mellitus |
Pubtator |
32939876 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
22348086 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathy |
Diabetic Nephropathy |
BEFREE |
29795979, 30785016 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
32939876 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver Disease |
Fatty Liver |
BEFREE |
30543441 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrosis, Liver |
Liver Fibrosis |
BEFREE |
31047894 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Geographic Atrophy |
Geographic Atrophy |
BEFREE |
23111182 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gerstmann-Straussler-Scheinker Disease |
Gerstmann-Straussler-Scheinker syndrome |
BEFREE |
16704534 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
Pubtator |
18243176 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Failure, Right-Sided |
Heart Failure |
BEFREE |
30193794 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
29212405, 31538266 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
BEFREE |
18075286 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
LHGDN |
18075286 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Iron Overload |
Iron Overload |
BEFREE |
24795345 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ischemic Stroke |
Ischemic stroke |
Pubtator |
32939876 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kaposi Sarcoma |
Kaposi Sarcoma |
BEFREE |
12477864 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Calculi |
Kidney stone |
BEFREE |
28760704 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Neoplasm |
Kidney Neoplasm |
BEFREE |
1660693 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Neoplasms |
Kidney neoplasm |
Pubtator |
21832044 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
3034055 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
21325077 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
3276289 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
3525957 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
3315826, 3525957 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Diseases |
Metabolic Diseases |
BEFREE |
30543441 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome X |
Metabolic Syndrome |
BEFREE |
26905813 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microphthalmia Posterior With Retinitis Pigmentosa Foveoschisis And Optic Disc Drusen |
Microphthalmia with retinitis pigmentosa and ocular anomalies |
Pubtator |
39444998 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
Pubtator |
23894629 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy, Duchenne |
Duchenne Muscular Dystrophy |
BEFREE |
27859236 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial Infarction |
BEFREE |
12394648 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myocardial Infarction |
Myocardial Infarction |
GWASDB_DG |
21211798 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myopia |
Myopia |
BEFREE |
23830514 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myopia |
Myopia |
ORPHANET_DG |
23830514 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myopia |
Myopia |
Pubtator |
28442722, 34469777, 39444998 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MYOPIA 23, AUTOSOMAL RECESSIVE |
Myopia |
CLINGEN_DG |
1400426, 23830514, 25525168, 26271838 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| MYOPIA 23, AUTOSOMAL RECESSIVE |
Myopia |
GENOMICS_ENGLAND_DG |
23830514 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| MYOPIA 23, AUTOSOMAL RECESSIVE |
Myopia |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| MYOPIA 23, AUTOSOMAL RECESSIVE |
Myopia |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Neoplasms |
Neoplasms |
BEFREE |
20065063, 2407334, 2514150, 29368982, 3525957 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrolithiasis |
Nephrolithiasis |
BEFREE |
28760704 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
31163262 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonalcoholic Steatohepatitis |
Non-alcoholic Fatty Liver Disease |
BEFREE |
30543441 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonorganic psychosis |
Nonorganic Psychosis |
BEFREE |
27798225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ovarian neoplasm |
Ovarian neoplasm |
BEFREE |
3276289 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Ductal Adenocarcinoma |
Pancreatic adenocarcinoma |
BEFREE |
31177911 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
24504617 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Presenile dementia |
Senile Dementia |
BEFREE |
18721259 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
33064976 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychotic Disorders |
Psychosis |
BEFREE |
27798225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rare isolated myopia |
Rare Isolated Myopia |
CLINVAR_DG |
23830514, 25525168, 26271838 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Rare isolated myopia |
Rare Isolated Myopia |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
10897012 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal fibrosis |
Renal fibrosis |
BEFREE |
29795979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Degeneration |
Retinal degeneration |
Pubtator |
34469777 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Detachment |
Retinal detachment |
Pubtator |
39444998 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
12528109, 12935785 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Septicemia |
Septicemia |
BEFREE |
28520632 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe myopia |
Myopia |
BEFREE |
23830514, 25525168 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stickler syndrome type 1 |
Stickler syndrome |
Pubtator |
33951325 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Subarachnoid Hemorrhage |
Subarachnoid hemorrhage |
BEFREE |
30251196 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Subclinical hypothyroidism |
Subclinical Hypothyroidism |
BEFREE |
18075286 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tetralogy of Fallot |
Tetralogy of Fallot |
BEFREE |
12393179 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
19066305 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Carcinoma Anaplastic |
Thyroid cancer |
Pubtator |
21367844 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasm |
Thyroid Neoplasm |
BEFREE |
22696507 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasms |
Thyroid cancer |
Pubtator |
19066305, 21367844 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tricuspid Valve Insufficiency |
Tricuspid Valve Insufficiency |
BEFREE |
28517026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
BEFREE |
12393179 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| von Willebrand Disease |
von Willebrand disorder |
LHGDN |
11992244 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |