|
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 |
| Asthma |
Asthma (childhood onset) |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Periodontitis |
Periodontitis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Abdominal Injuries |
Associate
|
21937627, 26156739 |
| Adrenal Gland Neoplasms |
Associate
|
7593641 |
| Alcoholism |
Associate
|
18828811 |
| Allergic Fungal Sinusitis |
Associate
|
32029445 |
| Alzheimer Disease |
Associate
|
24028428, 36635346 |
| Amyotrophic Lateral Sclerosis |
Stimulate
|
30911572 |
| Anorexia |
Associate
|
21545413 |
| Anxiety |
Associate
|
18385673, 20037921, 20648632, 21917383, 22584873, 29670288, 35093384 |
| Anxiety Disorders |
Associate
|
25059547 |
| Asthma |
Stimulate
|
32029445 |
| Atherosclerosis |
Associate
|
21746772, 36361795 |
| Attention Deficit Disorder with Hyperactivity |
Associate
|
28489853 |
| Autistic Disorder |
Associate
|
15090072 |
| Breast Neoplasms |
Associate
|
12111125, 26472474, 29512753, 35115550 |
| Cap Myopathy |
Associate
|
11762347 |
| Carcinoma Hepatocellular |
Associate
|
20676325 |
| Carcinoma Renal Cell |
Inhibit
|
36361795 |
| Cardiomyopathies |
Inhibit
|
31876927 |
| Cardiomyopathy Dilated |
Associate
|
11005710 |
| Cardiovascular Diseases |
Associate
|
23021333 |
| Carotid Stenosis |
Associate
|
21352822 |
| Cerebral Hemorrhage |
Associate
|
34422139 |
| Chromosomal Instability |
Associate
|
35484119 |
| Chronic Periodontitis |
Associate
|
23459936 |
| Chronic Urticaria |
Inhibit
|
37795408 |
| Cognition Disorders |
Associate
|
23482625 |
| Colorectal Neoplasms |
Associate
|
21298349, 24289328, 24485021, 26022272, 34627187, 37755164 |
| Colorectal Neoplasms Hereditary Nonpolyposis |
Associate
|
35149954 |
| Coronary Artery Disease |
Associate
|
24897239 |
| Crohn Disease |
Associate
|
30015893 |
| Death |
Inhibit
|
31876927 |
| Delirium |
Associate
|
33086708 |
| Depressive Disorder |
Associate
|
20648632, 25059547 |
| Diabetes Mellitus |
Inhibit
|
21549702 |
| Diabetes Mellitus |
Associate
|
22029806, 22808091, 27749914, 7538256 |
| Diabetes Mellitus Type 1 |
Associate
|
35627254 |
| Diabetes Mellitus Type 2 |
Stimulate
|
21549702 |
| Diabetes Mellitus Type 2 |
Associate
|
21746772, 22808091, 27749914, 34589546 |
| Diabetic Neuropathies |
Associate
|
21549702 |
| Drug Hypersensitivity |
Stimulate
|
32029445 |
| Drug Related Side Effects and Adverse Reactions |
Inhibit
|
36429093 |
| Drug Resistant Epilepsy |
Inhibit
|
31852985 |
| Embolism Fat |
Associate
|
21508507 |
| Epilepsy |
Stimulate
|
29367144 |
| Epilepsy |
Associate
|
30171525 |
| Epilepsy Familial Mesial Temporal Lobe |
Stimulate
|
26943580 |
| Epilepsy Temporal Lobe |
Associate
|
11466452, 26134645 |
| Epilepsy Temporal Lobe |
Inhibit
|
29367144, 31852985 |
| Ganglioneuroma |
Associate
|
10901366 |
| general anxiety disorder |
Associate
|
20037921 |
| Head and Neck Neoplasms |
Associate
|
29682090 |
| Heart Failure |
Associate
|
31876927 |
| Heart Neoplasms |
Associate
|
12632484 |
| Hippocampal Sclerosis |
Associate
|
11466452 |
| Holoprosencephaly |
Associate
|
19234067 |
| Hypercholesterolemia |
Associate
|
19846279 |
| Hyperphagia |
Associate
|
18562618 |
| Hypertension |
Associate
|
19309436, 22966009, 23021333 |
| Hypoxia |
Associate
|
35093384 |
| Hypoxia |
Stimulate
|
35484119 |
| Hypoxia Brain |
Associate
|
35093384 |
| Inflammation |
Associate
|
32029445, 36361795 |
| Intracranial Hemorrhages |
Associate
|
34422139 |
| Keloid |
Associate
|
34600545 |
| Keratoconus |
Associate
|
37460969 |
| Leukoencephalopathies |
Associate
|
16776375 |
| Metabolic Syndrome |
Associate
|
24897239, 25081719 |
| Mood Disorders |
Associate
|
23482625 |
| Myelodysplastic Syndromes |
Associate
|
33219204 |
| Myocardial Infarction |
Stimulate
|
39616326 |
| Neoplasm Metastasis |
Stimulate
|
36583743 |
| Neoplasms |
Associate
|
10901366, 12111125, 18698022, 20332211, 28543182, 29670288, 31569168, 34627187, 35484119, 36253428, 36583743, 7593641 |
| Neoplasms Adipose Tissue |
Associate
|
21937627, 26156739 |
| Neuroblastoma |
Associate
|
10901366, 16443729 |
| Neurodegenerative Diseases |
Associate
|
30911572, 36429093 |
| Neuroectodermal Tumors Primitive Peripheral |
Associate
|
2384178 |
| Neuroma Acoustic |
Associate
|
34691289 |
| Non alcoholic Fatty Liver Disease |
Associate
|
24019886 |
| Obesity |
Associate
|
10832764, 18562618, 21545413, 21937627, 23392873, 23652383, 24058506, 26156739, 28954935, 38387703 |
| Osteogenesis imperfecta type 1A |
Associate
|
26395295 |
| Ototoxicity |
Inhibit
|
31852985 |
| Pain |
Associate
|
18385673 |
| Pancreatic Neoplasms |
Associate
|
24201779, 40170581 |
| Pancreatitis Chronic |
Associate
|
40170581 |
| Panic Disorder |
Associate
|
10715359 |
| Pediatric Obesity |
Associate
|
23482625 |
| Personality Disorders |
Inhibit
|
31164324 |
| Pheochromocytoma |
Stimulate
|
7593641 |
| Plaque Atherosclerotic |
Associate
|
21352822 |
| Polycystic Ovary Syndrome |
Associate
|
21827375 |
| Pre Eclampsia |
Stimulate
|
23392873 |
| Progeria |
Associate
|
32012215 |
| Prostatic Intraepithelial Neoplasia |
Stimulate
|
36583743 |
| Prostatic Neoplasms |
Associate
|
11240828, 18257117, 18752015, 31164324, 33780364, 36774376, 38179769 |
| Prostatic Neoplasms |
Stimulate
|
36583743 |
| Prostatitis |
Associate
|
36583743 |
| Psychotic Disorders |
Associate
|
18992145 |
| Rectal Neoplasms |
Associate
|
31569168 |
| Sarcoma Ewing |
Associate
|
35484119 |
| Seizures |
Inhibit
|
26134645 |
| Seizures Febrile |
Associate
|
18055304 |
| Sleep Apnea Obstructive |
Associate
|
21508507 |
| Spinal Cord Injuries |
Associate
|
11045565 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
25612142, 29682090 |
| Stomach Neoplasms |
Associate
|
26068646, 32174791 |
| Stress Disorders Post Traumatic |
Inhibit
|
10715359 |
| Substance Related Disorders |
Associate
|
21917383 |
| Substance Withdrawal Syndrome |
Associate
|
18828811 |
| Tarlov Cysts |
Stimulate
|
36583743 |
| Tobacco Use Disorder |
Associate
|
22584873 |
| Trigeminal Neuralgia |
Inhibit
|
31852985 |
| Tuberculosis Meningeal |
Associate
|
27160117, 27160122 |
| Tuberculosis Multidrug Resistant |
Associate
|
29512753 |
| Urinary Bladder Neoplasms |
Associate
|
29739919 |
| Uterine Cervicitis |
Associate
|
29197114 |
| Vascular Diseases |
Associate
|
39616326 |
| Vitiligo |
Associate
|
25221996 |
| von Hippel Lindau Disease |
Inhibit
|
17470513 |
| Weight Gain |
Associate
|
21937627 |
| Weight Loss |
Associate
|
22966009 |
|