|
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 |
| Hypertension |
Hypertension, High blood pressure / hypertension, Hypertension (PheCode 401), Essential hypertension (PheCode 401.1) |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Spinocerebellar Ataxia |
spinocerebellar ataxia, autosomal recessive 31 |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adrenocortical Carcinoma |
Associate
|
35500219 |
| Alzheimer Disease |
Associate
|
29039784 |
| Asthma |
Associate
|
26701229 |
| Atherosclerosis |
Associate
|
35777002, 39741278, 40527779 |
| Atrial Fibrillation |
Associate
|
33706714 |
| Azoospermia Nonobstructive |
Associate
|
35710416 |
| Breast Neoplasms |
Associate
|
19944062, 20083906, 23386620, 25573951 |
| Carcinoma Hepatocellular |
Associate
|
25342595, 29676845, 32964966, 33495541, 34691238, 35405176, 38554427 |
| Carcinoma Merkel Cell |
Associate
|
31180579 |
| Carcinoma Non Small Cell Lung |
Associate
|
27184816, 29481833, 33168592 |
| Carcinoma Renal Cell |
Inhibit
|
24998849 |
| Carcinoma Renal Cell |
Associate
|
26208877, 35812454 |
| Celiac Disease |
Associate
|
28208686 |
| Cerebellar Diseases |
Associate
|
34161705 |
| Cerebral Infarction |
Associate
|
29123153 |
| Chemical and Drug Induced Liver Injury |
Associate
|
35405176 |
| Cholangiocarcinoma |
Associate
|
35725745, 40696630 |
| Colorectal Neoplasms |
Associate
|
26163626, 32046105 |
| Corneal Endothelial Cell Loss |
Associate
|
32792588 |
| Coronary Artery Disease |
Associate
|
35777002 |
| Coronary Disease |
Associate
|
36180886 |
| Developmental Disabilities |
Associate
|
34161705 |
| Diabetes Gestational |
Associate
|
33019392, 33085184, 37311265 |
| Diabetic Retinopathy |
Inhibit
|
37522124 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
21655094, 23051914, 23700428, 28553083, 33077697, 33495541 |
| Echovirus Infections |
Associate
|
32676816 |
| Endocrine System Diseases |
Associate
|
34161705 |
| Endometrial Neoplasms |
Associate
|
26208877, 40138919 |
| Endometrial Neoplasms |
Inhibit
|
34809787 |
| Endometriosis |
Associate
|
34809787 |
| Facial Dysmorphism with Multiple Malformations |
Associate
|
34161705 |
| Fatty Liver |
Associate
|
35405176 |
| Fibrocartilaginous embolism |
Associate
|
32016953 |
| Fibrosis |
Associate
|
35405176 |
| Glioblastoma |
Associate
|
23792642 |
| Glioma |
Associate
|
28912153 |
| HIV Infections |
Associate
|
30344003, 30653393 |
| HTLV I Infections |
Associate
|
29962265 |
| Huntington Disease |
Associate
|
23894380 |
| Infections |
Associate
|
33016799, 38088554 |
| Inflammation |
Associate
|
26701229, 32792588, 35405176 |
| Intervertebral Disc Degeneration |
Associate
|
33846806 |
| Leiomyoma |
Associate
|
31843092 |
| Leukemia |
Associate
|
22898604 |
| Leukemia Erythroblastic Acute |
Associate
|
27091640 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
25701353 |
| Leukemia Myeloid Acute |
Associate
|
33077697 |
| Leukemia Promyelocytic Acute |
Associate
|
14976209 |
| Liver Diseases |
Associate
|
35405176 |
| Liver Failure |
Associate
|
35405176 |
| Melanoma |
Associate
|
25484078 |
| Metabolic Syndrome |
Associate
|
35405176 |
| Myocardial Infarction |
Associate
|
30407747 |
| Neoplasm Metastasis |
Associate
|
30635654 |
| Neoplasms |
Inhibit
|
14976209, 31180579 |
| Neoplasms |
Associate
|
20368806, 20634405, 23637631, 23792642, 25484078, 25897662, 26208877, 26677873, 29967346, 30238850, 30733195, 30988371, 31545241, 35725745, 37311357, 39253092 View all (1 more) |
| Non alcoholic Fatty Liver Disease |
Associate
|
35405176 |
| Non alcoholic Fatty Liver Disease |
Stimulate
|
36674839 |
| Obesity |
Associate
|
29400609, 35405176, 37311265 |
| Obesity |
Stimulate
|
36674839 |
| Osteosarcoma |
Associate
|
23527187, 36254233 |
| Ovarian Dysgenesis 2 |
Associate
|
30224786 |
| Ovarian Neoplasms |
Associate
|
20508647, 30570864, 39513923 |
| Overweight |
Associate
|
29400609 |
| Pancreatic Neoplasms |
Associate
|
35288538, 35582016 |
| Parkinson Disease |
Associate
|
35802825, 36593912 |
| Poliomyelitis |
Associate
|
33016799 |
| Polycystic Ovary Syndrome |
Stimulate
|
31056990 |
| Primary Ovarian Insufficiency |
Associate
|
30224786, 36099812 |
| Prostatic Neoplasms |
Associate
|
23670050, 37929350 |
| Rectal Neoplasms |
Associate
|
36414988 |
| Sarcoma Ewing |
Associate
|
40628996 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
24599075 |
| Stomach Neoplasms |
Associate
|
32139670, 33649532 |
| Stroke |
Associate
|
29123153 |
| Takotsubo Cardiomyopathy |
Associate
|
35405176 |
| Thyroid Neoplasms |
Associate
|
30005868 |
| Triple Negative Breast Neoplasms |
Associate
|
30988371 |
| Tuberculosis |
Associate
|
38088554 |
| Urinary Bladder Neoplasms |
Associate
|
28553083, 30635654 |
| Uterine Cervical Neoplasms |
Associate
|
25803820, 26681037 |
| Vasculitis |
Associate
|
34961976 |
|