|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Myocardial Infarction |
Myocardial infarction |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
17399767, 19626700 |
| Adrenocortical Carcinoma |
Associate
|
30838516 |
| Alcoholism |
Associate
|
18616667 |
| Alzheimer Disease |
Associate
|
33704916 |
| Anemia Aplastic |
Associate
|
39179703 |
| Arterial Occlusive Diseases |
Stimulate
|
11854734 |
| Autoimmune Diseases |
Associate
|
10594701 |
| Beckwith Wiedemann Syndrome |
Associate
|
26505556 |
| Birt Hogg Dube Syndrome |
Stimulate
|
33143702 |
| Breast Neoplasms |
Associate
|
12149131, 19435860, 20347606, 26458823, 36140725, 37684436, 8286193, 9413941 |
| Carcinogenesis |
Associate
|
12149131, 17850746, 9294214 |
| Carcinoma Ductal Breast |
Associate
|
9413941 |
| Carcinoma Hepatocellular |
Associate
|
18322954, 23071652, 33495404, 7639583, 9294214, 9413941 |
| Carcinoma Intraductal Noninfiltrating |
Associate
|
26718977 |
| Carcinoma Non Small Cell Lung |
Associate
|
25402559 |
| Carcinoma Squamous Cell |
Associate
|
23347038 |
| Cardiomyopathy Hypertrophic |
Inhibit
|
23498131 |
| Cardiovascular Diseases |
Associate
|
30642433 |
| Ceroid lipofuscinosis neuronal 5 |
Associate
|
22431521 |
| Chediak Higashi Syndrome |
Associate
|
26478006 |
| Chemical and Drug Induced Liver Injury |
Associate
|
33595041 |
| Colorectal Neoplasms |
Associate
|
22377707 |
| COVID 19 |
Stimulate
|
32894568 |
| Dementia |
Associate
|
30642433 |
| Diabetes Gestational |
Associate
|
31424259 |
| Diabetes Mellitus Type 2 |
Associate
|
25867398, 25922844 |
| Dysplastic Nevus Syndrome |
Associate
|
9294214 |
| Endometrial Neoplasms |
Associate
|
17399767 |
| Esophageal Neoplasms |
Associate
|
19626700 |
| Fetal Growth Retardation |
Associate
|
20104244 |
| Glioblastoma |
Associate
|
26956052, 27770278 |
| Head and Neck Neoplasms |
Associate
|
12589712, 39619326 |
| Heart Failure |
Associate
|
37684436 |
| Hepatitis C |
Associate
|
16627984 |
| HIV Infections |
Associate
|
25890304 |
| Idiopathic Noncirrhotic Portal Hypertension |
Inhibit
|
12618883 |
| Idiopathic Noncirrhotic Portal Hypertension |
Associate
|
9294214 |
| Insulin Resistance |
Associate
|
11283790, 25922844 |
| Laryngeal Neoplasms |
Associate
|
36299463 |
| Liver Cirrhosis |
Associate
|
9294214 |
| Liver Diseases |
Associate
|
9294214 |
| Liver Neoplasms |
Associate
|
9294214 |
| Lung Neoplasms |
Associate
|
12142546, 30642433 |
| Lymphoma Primary Effusion |
Associate
|
30541844 |
| Melanoma |
Associate
|
19414391, 21109473, 34571863 |
| Metabolic Syndrome |
Inhibit
|
25867398 |
| Metabolic Syndrome |
Associate
|
25867398, 34093434 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type II |
Associate
|
37569667 |
| Multiple Myeloma |
Associate
|
8896422 |
| Myasthenia Gravis |
Associate
|
35802752 |
| Mycoses |
Associate
|
28713781 |
| Neoplasm Metastasis |
Associate
|
21109473, 23347038 |
| Neoplasms |
Associate
|
10446221, 12142546, 12149131, 12857727, 16432260, 18322954, 19414391, 19626700, 20347606, 20416304, 22377707, 22849543, 23347038, 24637962, 25402559 |
| Neoplasms |
Inhibit
|
12589712, 17475626, 17850746, 19435860, 22681933, 31748500, 36140725 |
| Neoplasms |
Stimulate
|
36299463 |
| Osteogenesis Imperfecta Type VII |
Associate
|
23347038 |
| Osteosarcoma |
Associate
|
21751203 |
| Ovarian Diseases |
Associate
|
21846690 |
| Ovarian Neoplasms |
Associate
|
16432260, 22849543, 36722270 |
| Pancreatic Neoplasms |
Associate
|
20416304 |
| Parkinson Disease |
Associate
|
24152121 |
| Polycystic Ovary Syndrome |
Associate
|
22904171 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Stimulate
|
22878902 |
| Prostatic Neoplasms |
Associate
|
31337649 |
| Puberty Precocious |
Associate
|
30249230 |
| Sarcoma Kaposi |
Associate
|
30541844 |
| Skin Neoplasms |
Associate
|
37562257 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
12589712 |
| Stomach Neoplasms |
Associate
|
19626700, 25329677 |
| Thymoma |
Associate
|
35802752 |
| Tuberculosis Multidrug Resistant |
Associate
|
30939201 |
| Turcot syndrome |
Associate
|
10861262 |
| Uterine Cervical Neoplasms |
Stimulate
|
31748500 |
|