|
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 |
| Diabetes |
Triglyceride levels in non-type 2 diabetes, Type 2 diabetes, Type 2 diabetes mellitus or coronary artery disease (pleiotropy), Type 2 diabetes mellitus adjusted for BMI or coronary artery disease (pleiotropy) |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acquired Immunodeficiency Syndrome |
Associate
|
34465029 |
| Adenocarcinoma |
Associate
|
25889361, 32495469 |
| Adenocarcinoma of Lung |
Associate
|
31503425, 32495469 |
| Alzheimer Disease |
Inhibit
|
36646969 |
| Arthritis Rheumatoid |
Associate
|
26752645 |
| Ataxia Telangiectasia |
Associate
|
40579780 |
| Birk Barel Mental Retardation Dysmorphism Syndrome |
Associate
|
35296332 |
| Breast Neoplasms |
Associate
|
23107467, 36591654, 37958803 |
| Burkitt Lymphoma |
Associate
|
32424339 |
| Carcinogenesis |
Associate
|
23677994, 24637615, 25272010, 25940709, 26497117, 26768845, 32495469, 35403252, 38556072 |
| Carcinoma Hepatocellular |
Associate
|
26464697, 28584306, 31442209, 37380646 |
| Carcinoma Non Small Cell Lung |
Associate
|
20517312, 21351083, 27437769, 29516630, 32495469, 33658396, 36778111 |
| Carcinoma Pancreatic Ductal |
Associate
|
26497117, 35403252 |
| Carcinoma Renal Cell |
Associate
|
27487138, 31422942, 37671388 |
| Carcinoma Squamous Cell |
Associate
|
28849055 |
| Carcinoma Squamous Cell |
Stimulate
|
32495469 |
| Carcinoma Transitional Cell |
Associate
|
28128913 |
| Cell Transformation Neoplastic |
Associate
|
33800494 |
| Colonic Neoplasms |
Associate
|
26768845 |
| Colorectal Neoplasms |
Associate
|
24324066, 25940709, 26768845, 28241740, 31064417, 35211429, 35951156, 37671388 |
| Colorectal Neoplasms |
Stimulate
|
35951156 |
| Creutzfeldt Jakob Disease Sporadic |
Associate
|
32918118 |
| Death |
Associate
|
31503425 |
| Ectodermal Dysplasia |
Stimulate
|
37887281 |
| Episodic Kinesigenic Dyskinesia 2 |
Associate
|
29849118 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
27507047 |
| Fanconi Anemia |
Associate
|
25801034 |
| Hepatoblastoma |
Associate
|
29507645, 38285887 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
23107467 |
| Hypoxia |
Inhibit
|
28584306 |
| IgA Vasculitis |
Associate
|
26752645 |
| Immunodeficiency syndrome variable |
Associate
|
33082427 |
| Infertility |
Associate
|
31802345 |
| Kidney Neoplasms |
Stimulate
|
19491893 |
| Leukemia |
Associate
|
25765655, 36302855 |
| Leukemia Myeloid |
Associate
|
36302855 |
| Leukemia Myeloid Acute |
Associate
|
25996682, 30480765, 36302855 |
| Lung Neoplasms |
Associate
|
20517312, 21351083, 28849055 |
| Lupus Erythematosus Systemic |
Associate
|
36075396 |
| Lymphatic Metastasis |
Associate
|
23107467 |
| Lymphoma |
Associate
|
28901428 |
| Melanoma |
Stimulate
|
29620240 |
| Mesothelioma Malignant |
Associate
|
33800494 |
| Muscle Neoplasms |
Stimulate
|
19491893 |
| Neoplasm Metastasis |
Associate
|
20517312, 23297342, 26464697 |
| Neoplasm Metastasis |
Stimulate
|
37671388 |
| Neoplasms |
Associate
|
12838312, 16195352, 21351083, 22945642, 23297342, 24637615, 25272010, 25323766, 25349215, 25743796, 25996682, 26070868, 26464697, 27072587, 27114453, 27923837, 28128913, 28584306, 29415984, 29507645, 29620240, 31064417, 31428652, 31442209, 33658396, 34398824, 35951156, 36681316, 37380646, 37406020, 38556072, 39631394, 40579780 View all (18 more) |
| Neoplasms |
Inhibit
|
25940709, 33795533 |
| Neoplasms |
Stimulate
|
27507047 |
| Neurologic Manifestations |
Associate
|
35429693 |
| Non Muscle Invasive Bladder Neoplasms |
Associate
|
28128913 |
| Obesity |
Associate
|
31428652 |
| Oligospermia |
Associate
|
31802345 |
| Ovarian Neoplasms |
Associate
|
25743796, 26070868 |
| Pancreatic Neoplasms |
Associate
|
26497117 |
| Parkinson Disease |
Associate
|
36593912 |
| Pre Eclampsia |
Associate
|
35296332 |
| Precursor B Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
29849118 |
| Prostatic Neoplasms |
Associate
|
26884069, 36681316 |
| Retinoblastoma |
Associate
|
29415984 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
34398824 |
| Stomach Neoplasms |
Associate
|
26831603 |
| Tertiary Lymphoid Structures |
Associate
|
20517312 |
| Thymoma |
Associate
|
31442209 |
| Thyroid Neoplasms |
Associate
|
19809427 |
| Urinary Bladder Neoplasms |
Associate
|
19491893, 25323766, 27072587, 28128913 |
| Urinary Bladder Neoplasms |
Stimulate
|
25272010 |
| Urogenital Neoplasms |
Associate
|
25349215 |
| Uterine Cervical Neoplasms |
Associate
|
19270723, 23688286, 29157076, 33795533, 38556072 |
|