|
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 |
| Ehlers-Danlos Syndrome |
Ehlers-Danlos syndrome, classic-like, 3 |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
27513329 |
| Adenocarcinoma in Situ |
Associate
|
40038757 |
| Adenocarcinoma of Lung |
Stimulate
|
27513329 |
| Adenocarcinoma of Lung |
Associate
|
35547750, 40038757 |
| Alzheimer Disease |
Associate
|
26482433 |
| Aortic Aneurysm Abdominal |
Associate
|
21593211, 32605321, 34669362 |
| Atrial Fibrillation |
Associate
|
34332113, 36335340 |
| Biliary Atresia |
Associate
|
36930067 |
| Brain Neoplasms |
Associate
|
31888563 |
| Breast Neoplasms |
Associate
|
30154546, 30236106 |
| Burkitt Lymphoma |
Associate
|
36354023 |
| Carcinogenesis |
Associate
|
32887625 |
| Carcinoma Ductal |
Associate
|
30154546 |
| Carcinoma Endometrioid |
Associate
|
24175302 |
| Carcinoma Hepatocellular |
Associate
|
21737444, 29024941, 34105780 |
| Carcinoma Intraductal Noninfiltrating |
Associate
|
30236106 |
| Carcinoma Non Small Cell Lung |
Stimulate
|
27513329 |
| Carcinoma Non Small Cell Lung |
Associate
|
35044104 |
| Carcinoma Pancreatic Ductal |
Associate
|
31731384, 33114263, 34007003 |
| Carcinoma Squamous Cell |
Associate
|
27164935 |
| Carcinoma Squamous Cell |
Stimulate
|
27513329 |
| Cholangiocarcinoma |
Associate
|
31943574 |
| Cholangiocarcinoma |
Stimulate
|
32887625 |
| Cicatrix Hypertrophic |
Associate
|
30320389 |
| Colonic Neoplasms |
Associate
|
31612481 |
| Colorectal Neoplasms |
Associate
|
26482433, 28424419, 29068474, 30570855, 31545460, 34471634, 35315209, 36377223, 9888480 |
| Constriction Pathologic |
Associate
|
36118676 |
| Coronary Disease |
Associate
|
15121769 |
| COVID 19 |
Associate
|
36206625, 40224213 |
| Dermatomyositis |
Associate
|
37928522 |
| Diabetes Mellitus Type 2 |
Associate
|
36335340, 36339449 |
| Diabetic Nephropathies |
Associate
|
34784607, 35923621 |
| Ectrodactyly |
Associate
|
32269565 |
| Epilepsy |
Stimulate
|
40497531 |
| Epstein Barr Virus Infections |
Associate
|
21792887 |
| Exocrine Pancreatic Insufficiency |
Associate
|
35130326 |
| Fatty Liver |
Stimulate
|
39621304 |
| Fibroma Desmoplastic |
Associate
|
21047417 |
| Fibrosis |
Stimulate
|
19191772 |
| Fibrosis |
Associate
|
34105780, 34231954, 34508113, 35159124, 36206625, 36344733 |
| general anxiety disorder |
Associate
|
27159506 |
| Glaucoma Open Angle |
Associate
|
31589839 |
| Glioma |
Associate
|
30795814 |
| Gray Platelet Syndrome |
Associate
|
12823356 |
| Heart Failure |
Associate
|
31047008, 36335340 |
| Heart Murmurs |
Associate
|
36335340 |
| Hepatitis C |
Associate
|
36344733 |
| Huntington Disease |
Associate
|
31943574 |
| Hyperaldosteronism |
Associate
|
12358136 |
| Hyperglycemia |
Stimulate
|
36335340 |
| Hypoxia |
Stimulate
|
21306557 |
| Idiopathic Noncirrhotic Portal Hypertension |
Associate
|
34105780 |
| Idiopathic Pulmonary Fibrosis |
Associate
|
33672678, 37928522 |
| Immunologic Deficiency Syndromes |
Associate
|
19116307 |
| Inflammation |
Associate
|
34105780, 36344733 |
| Intervertebral Disc Degeneration |
Associate
|
24904231, 29480856, 31233787, 32873329 |
| Intervertebral disc disease |
Associate
|
18455130 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
38221616 |
| Liver Cirrhosis |
Associate
|
34105780, 35159124, 36344733 |
| Liver Diseases |
Associate
|
29024941 |
| Lumbar Stenosis Familial |
Associate
|
23807322 |
| Lung Diseases Interstitial |
Associate
|
37928522 |
| Lung Neoplasms |
Associate
|
27513329, 28617549 |
| Lymphatic Metastasis |
Stimulate
|
30570855, 31888563 |
| Lymphoma Primary Effusion |
Associate
|
21792887 |
| Melanoma |
Associate
|
12353704 |
| Mental Disorders |
Associate
|
27159506 |
| Multiple Myeloma |
Associate
|
17760807 |
| Muscular Dystrophy Duchenne |
Associate
|
34922439 |
| Neoplasm Metastasis |
Stimulate
|
12353704, 35547750 |
| Neoplasm Metastasis |
Associate
|
30338785, 35255858, 36377223 |
| Neoplasm Metastasis |
Inhibit
|
9888480 |
| Neoplasms |
Inhibit
|
12824879, 34471634 |
| Neoplasms |
Associate
|
17601708, 21047417, 27997896, 31676359, 31888563, 32659970, 34283835, 35315209, 35547750, 35982904, 36377223, 36405394 |
| Non alcoholic Fatty Liver Disease |
Stimulate
|
29769552 |
| Non alcoholic Fatty Liver Disease |
Associate
|
34105780, 36344733 |
| Obesity |
Stimulate
|
34231954 |
| Ovarian Neoplasms |
Associate
|
24175302, 32319226, 36222710, 37024829 |
| Pancreatic Neoplasms |
Associate
|
31943574, 35879877 |
| Pituitary Neoplasms |
Associate
|
36686480 |
| Pre Eclampsia |
Associate
|
30396069 |
| Prostatic Neoplasms |
Associate
|
28831065 |
| Pulmonary Arterial Hypertension |
Associate
|
35394406 |
| Renal Insufficiency Chronic |
Stimulate
|
25049013 |
| Retroperitoneal liposarcoma |
Associate
|
35982904 |
| Salivary Gland Neoplasms |
Associate
|
12824879 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
32015424 |
| Stomach Neoplasms |
Associate
|
17601708, 27997896, 29921304, 32058995, 32590738, 33080572, 33345281, 33582701, 35255858, 35328635, 35789544, 38041130, 40224213 |
| Stomach Neoplasms |
Inhibit
|
25262009 |
| Stomach Neoplasms |
Stimulate
|
36447214, 36842141 |
| Systemic carnitine deficiency |
Associate
|
32269565 |
| Triple Negative Breast Neoplasms |
Associate
|
31059004, 36405394 |
| Urinary Bladder Neoplasms |
Associate
|
30689556, 30723390, 33910854 |
| Uterine Cervical Diseases |
Associate
|
35130326 |
| Uterine Cervical Neoplasms |
Associate
|
12189553, 31298364 |
| Uveal melanoma |
Associate
|
30338785 |
| Venous Thromboembolism |
Associate
|
34309635, 37537391 |
|