|
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 |
| Alloimmune Thrombocytopenia |
fetal and neonatal alloimmune thrombocytopenia |
N/A |
N/A |
ClinVar |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
| Platelet-type bleeding disorder |
Platelet-type bleeding disorder 9, platelet-type bleeding disorder 9 |
N/A |
N/A |
ClinVar, GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acute Aortic Syndrome |
Associate
|
33953793 |
| Adenocarcinoma of Lung |
Associate
|
37311571 |
| Alcoholism |
Associate
|
24890784 |
| Asthma |
Associate
|
29769273 |
| beta Thalassemia |
Associate
|
26650878 |
| Biliary Atresia |
Associate
|
35774294 |
| Blood Platelet Disorders |
Associate
|
26367242, 27881421 |
| Brain Diseases |
Associate
|
31758065 |
| Breast Neoplasms |
Associate
|
22791584, 23875900, 26258411, 26655502, 29121049, 8396565, 9649145 |
| Carcinogenesis |
Associate
|
32437034 |
| Carcinoma Hepatocellular |
Associate
|
27765911, 29658607, 30515639, 32557953, 7684197 |
| Carcinoma Pancreatic Ductal |
Associate
|
24500968, 31926587, 32899691, 34007003, 35998796, 37907515 |
| Carcinoma Squamous Cell |
Associate
|
35147120 |
| Carotid Artery Diseases |
Associate
|
37137812 |
| Carotid Stenosis |
Associate
|
21393601 |
| Cerebral Infarction |
Associate
|
17534386 |
| Cerebrovascular Disorders |
Associate
|
27881421 |
| Cholangiocarcinoma |
Associate
|
32116234, 36575207, 7684197 |
| Colorectal Neoplasms |
Associate
|
12657625, 15304500, 25549357, 28902367, 29843204, 34860147 |
| Colorectal Neoplasms |
Stimulate
|
35147120 |
| Coronary Artery Disease |
Associate
|
27881421, 33557870 |
| Coronary Artery Disease Autosomal Dominant 1 |
Associate
|
10828008 |
| Diabetes Mellitus |
Associate
|
36295578 |
| Diabetes Mellitus Type 2 |
Associate
|
36295578 |
| DNA Virus Infections |
Associate
|
35998796 |
| Endometrial Neoplasms |
Associate
|
37737665 |
| Eosinophilic Esophagitis |
Associate
|
32426497 |
| Epidermolysis Bullosa |
Associate
|
1694890 |
| Epstein Barr Virus Infections |
Stimulate
|
25041527 |
| Gastroschisis |
Associate
|
31075877 |
| Graves Disease |
Stimulate
|
9218832 |
| Hashimoto Disease |
Stimulate
|
9218832 |
| Heart Diseases |
Associate
|
10828008 |
| Hemangiosarcoma |
Associate
|
7682756 |
| Hemorrhage |
Associate
|
15226188, 15978109, 16409463, 25901734 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
35149005 |
| Immunoglobulin G4 Related Disease |
Associate
|
8421065 |
| Inflammation |
Associate
|
36042612 |
| Leiomyoma |
Associate
|
25658015, 28324020 |
| Leiomyosarcoma |
Inhibit
|
7682756 |
| Leukemia Myeloid Acute |
Associate
|
30484958, 30545930 |
| Leukoplakia Hairy |
Associate
|
10918561 |
| Lung Neoplasms |
Associate
|
2022922, 35147120, 8080732 |
| Lupus Erythematosus Systemic |
Associate
|
2646323 |
| Lymphatic Metastasis |
Associate
|
26258411 |
| Melanoma |
Associate
|
1991990, 36091936 |
| Melanoma |
Stimulate
|
32426497 |
| Meningeal Carcinomatosis |
Associate
|
9649145 |
| Mesothelioma Malignant |
Associate
|
34768883 |
| Mucocutaneous Lymph Node Syndrome |
Associate
|
33557870 |
| Myelodysplastic Syndromes |
Associate
|
30484958 |
| Myocardial Infarction |
Associate
|
11835340, 30143348 |
| Nasopharyngeal Carcinoma |
Associate
|
29121049 |
| Neoplasm Metastasis |
Associate
|
32202508 |
| Neoplasms |
Associate
|
10906100, 16461767, 18830231, 19650860, 2000944, 2022922, 22500976, 25422375, 25658015, 26567111, 27125458, 27225591, 28587194, 28962550, 29104488, 29121049, 29843204, 30515639, 30718673, 32202508, 34127544, 35147120, 36091936, 36311789, 37881431, 7682756, 9649145 View all (12 more) |
| Neoplasms |
Inhibit
|
26258411 |
| Neurilemmoma |
Associate
|
7682756 |
| Neuroblastoma |
Associate
|
31432180 |
| Neurofibrosarcoma |
Inhibit
|
7682756 |
| Niemann Pick Disease Type C |
Associate
|
29912899 |
| Osteoarthritis |
Associate
|
33303888 |
| Osteoporosis |
Associate
|
23638215 |
| Osteoporotic Fractures |
Inhibit
|
23638215 |
| Osteosarcoma |
Associate
|
26700675 |
| Ovarian Neoplasms |
Associate
|
17179151, 32878513, 36766725, 37527178 |
| Ovarian Neoplasms |
Stimulate
|
32202508 |
| Pancreatic Intraductal Neoplasms |
Associate
|
37907515 |
| Pancreatic Neoplasms |
Associate
|
30428899, 32235821, 34007003, 35998796, 36311789, 37881431 |
| Paroxysmal ventricular fibrillation |
Associate
|
27759448 |
| Platelet Disorder Familial with Associated Myeloid Malignancy |
Associate
|
30545930 |
| Polycystic Ovary Syndrome |
Associate
|
37737665 |
| Prostate cancer familial |
Associate
|
18830231 |
| Prostatic Neoplasms |
Associate
|
18830231, 22782340, 24175814, 31682594 |
| Prostatic Neoplasms |
Stimulate
|
35147120 |
| Small Cell Lung Carcinoma |
Associate
|
35147120 |
| Squamous Cell Carcinoma of Head and Neck |
Stimulate
|
32437034 |
| Stomach Neoplasms |
Associate
|
21734795 |
| Stomach Neoplasms |
Stimulate
|
35147120 |
| Stroke |
Associate
|
17534386 |
| Synesthesia |
Associate
|
29507195 |
| Takayasu Arteritis |
Associate
|
34523592 |
| Thrombocytopenia Neonatal Alloimmune |
Associate
|
11370330, 23865077 |
| Thrombosis |
Associate
|
11835340 |
| Thyroid Cancer Papillary |
Associate
|
30414611 |
| Thyroid Neoplasms |
Associate
|
32337286 |
| Transfusion Reaction |
Associate
|
23865077 |
| Uterine Diseases |
Associate
|
36552753 |
| Uveal melanoma |
Associate
|
10906100 |
| Vascular Diseases |
Associate
|
15978109 |
| Vascular System Injuries |
Associate
|
11835340 |
| von Willebrand Disease Type 1 |
Associate
|
10339461 |
| von Willebrand Disease Type 2 |
Associate
|
16409463 |
|