|
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 |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Gout |
Gout |
N/A |
N/A |
GWAS |
| Mental Depression |
Major depressive disorder |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Alzheimer Disease |
Associate
|
39929297 |
| Aortic Valve Stenosis |
Inhibit
|
39217396 |
| Bile Acid Malabsorption Primary |
Associate
|
26856750 |
| Biliary Atresia |
Associate
|
31976601 |
| Biliary Atresia |
Stimulate
|
36692476 |
| Bipolar Disorder |
Associate
|
38484669 |
| Blindness |
Stimulate
|
27384874 |
| Breast Neoplasms |
Associate
|
24811890, 27192118, 39261800 |
| Bronchopulmonary Dysplasia |
Associate
|
31967847 |
| Carcinogenesis |
Associate
|
22761904, 28906590 |
| Carcinoma |
Associate
|
32487254 |
| Carcinoma Ductal Breast |
Associate
|
24248542 |
| Carcinoma Hepatocellular |
Associate
|
22309595, 23285165, 26498355, 27384874, 28069043, 30373752, 31063779, 31575541, 32219747, 33754043, 33794926, 35659630, 35874743, 36179047, 38048735 |
| Carcinoma Hepatocellular |
Stimulate
|
27447573 |
| Carcinoma Squamous Cell |
Associate
|
26943773, 28906590 |
| Chemical and Drug Induced Liver Injury |
Associate
|
23840612, 27976737, 35493499 |
| Cholangiocarcinoma |
Associate
|
26498355 |
| Cholestasis |
Associate
|
28570655 |
| Cholestasis Extrahepatic |
Stimulate
|
28570655 |
| Cleft Lip |
Associate
|
22074045 |
| Cognition Disorders |
Associate
|
39566744 |
| Colitis Ulcerative |
Associate
|
28982144 |
| Colorectal Neoplasms |
Associate
|
23285165, 26498355, 36923538 |
| Crohn Disease |
Associate
|
23189156, 28982144, 39261800 |
| Crohn Disease |
Inhibit
|
34491321 |
| Diabetes Gestational |
Inhibit
|
24260557, 29734515 |
| Diabetes Gestational |
Associate
|
34982020 |
| Diabetes Mellitus |
Associate
|
23801799, 25664662 |
| Diabetes Mellitus |
Inhibit
|
28202005, 32344198 |
| Diabetes Mellitus Type 2 |
Associate
|
23801799, 25664662 |
| Diabetes Mellitus Type 2 |
Inhibit
|
28202005 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
21734802, 22761904, 29866946, 31851786, 33725708, 34962019 |
| Fatty Liver |
Stimulate
|
27447573 |
| Fatty Liver Alcoholic |
Associate
|
23840612 |
| Fibrosis |
Inhibit
|
29654817 |
| Fibrosis |
Associate
|
29699061 |
| Hepatitis Alcoholic |
Stimulate
|
29654817 |
| Hypertriglyceridemia |
Associate
|
26856750 |
| Hypoglycemia |
Stimulate
|
30976983 |
| Idiopathic Noncirrhotic Portal Hypertension |
Stimulate
|
26293907 |
| Ileal Diseases |
Inhibit
|
34491321 |
| Inflammation |
Associate
|
23670968, 39217396, 39566744 |
| Inflammation |
Inhibit
|
27976737 |
| Insulin Resistance |
Associate
|
23670968, 24260557 |
| Intestinal Failure |
Associate
|
34133768 |
| Intrahepatic Cholestasis of Pregnancy |
Associate
|
24366234 |
| Keratoconus |
Inhibit
|
38064228 |
| Leukemia Myeloid Acute |
Associate
|
26125711, 33284559 |
| Liver Cirrhosis Biliary |
Associate
|
26293907, 28570655 |
| Liver Diseases |
Associate
|
26293907, 30122083 |
| Liver Diseases |
Stimulate
|
31976601 |
| Liver Failure |
Associate
|
26293907, 31976601 |
| Liver Neoplasms |
Associate
|
27447573 |
| Lung Neoplasms |
Associate
|
22689099 |
| Lymphatic Metastasis |
Stimulate
|
24248542, 27053348 |
| Melanoma |
Associate
|
36739402, 36881068 |
| Mental Disorders |
Associate
|
39566744 |
| Neoplasm Metastasis |
Associate
|
26498355, 28939077 |
| Neoplasms |
Associate
|
22309595, 25822088, 26498355, 27192118, 28069043, 28906590, 31063779, 31575541, 36179047, 36751636, 37914932, 38048735 |
| Neoplasms |
Stimulate
|
27053348 |
| Neural Tube Defects |
Stimulate
|
33491544 |
| Non alcoholic Fatty Liver Disease |
Associate
|
23840612, 31655133, 32794259 |
| Obesity |
Associate
|
18469300, 23670968 |
| Obesity |
Inhibit
|
32344198 |
| Ovarian Neoplasms |
Associate
|
36751636 |
| Polycystic Ovary Syndrome |
Inhibit
|
24260557 |
| Smoke Inhalation Injury |
Stimulate
|
28906590 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
34576070, 39432990 |
| Stomach Neoplasms |
Stimulate
|
27053348 |
| Stomach Neoplasms |
Associate
|
29866946, 34551773 |
| Subarachnoid Hemorrhage |
Associate
|
38173028 |
| Systemic Inflammatory Response Syndrome |
Associate
|
38040541 |
| Tongue Neoplasms |
Associate
|
28939077 |
| Urethral Neoplasms |
Associate
|
28972963 |
| Weight Loss |
Associate
|
28202005 |
| Wounds and Injuries |
Associate
|
34982020 |
|