|
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 |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Asthma |
Asthma (childhood onset) |
N/A |
N/A |
GWAS |
| Atrial Fibrillation |
Atrial fibrillation |
N/A |
N/A |
GWAS |
| Biliary Atresia |
Biliary atresia |
N/A |
N/A |
GWAS |
| Breast Cancer |
Breast cancer |
N/A |
N/A |
GWAS |
| Colorectal Cancer |
Colorectal cancer |
N/A |
N/A |
GWAS |
| Crohn Disease |
Crohn's disease (time to progression) |
N/A |
N/A |
GWAS |
| Dementia |
Dementia |
N/A |
N/A |
GWAS |
| Dermatitis |
Atopic dermatitis |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Eosinophilia |
Eosinophilic esophagitis |
N/A |
N/A |
GWAS |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
| Gout |
Gout |
N/A |
N/A |
GWAS |
| Hypertension |
Resistant hypertension |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Intracranial Aneurysm |
Intracranial aneurysm |
N/A |
N/A |
GWAS |
| Oligodendroglioma |
Oligodendroglioma |
N/A |
N/A |
GWAS |
| Restless Legs Syndrome |
Restless legs syndrome |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
| Strabismus |
Strabismus |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
18948947, 33979320 |
| Alzheimer Disease |
Associate
|
35627222, 36553611 |
| Astrocytoma |
Associate
|
35982066 |
| Attention Deficit Disorder with Hyperactivity |
Associate
|
19546859 |
| Breast Neoplasms |
Associate
|
25570853 |
| Calcinosis Cutis |
Associate
|
23800680 |
| Carcinogenesis |
Associate
|
25412184 |
| Carcinoma Hepatocellular |
Associate
|
22326833, 28159835 |
| Carcinoma Large Cell |
Associate
|
35641209 |
| Carcinoma Non Small Cell Lung |
Associate
|
34615542, 35603359, 35798829, 37602864 |
| Carcinoma Renal Cell |
Associate
|
21387281 |
| Carcinoma Squamous Cell |
Associate
|
17420988, 28099906 |
| Carcinoma Squamous Cell |
Inhibit
|
19131950 |
| Colonic Neoplasms |
Associate
|
25113440 |
| Colorectal Neoplasms |
Associate
|
23975090 |
| Coronary Artery Disease |
Associate
|
22216278 |
| COVID 19 |
Associate
|
39457114 |
| Death |
Associate
|
26755275 |
| Desmoplastic Small Round Cell Tumor |
Associate
|
25119929 |
| Developmental Disabilities |
Associate
|
31088393 |
| Diabetes Gestational |
Associate
|
27738328 |
| Diabetes Mellitus |
Associate
|
20174558, 23147557 |
| Diabetes Mellitus Type 2 |
Associate
|
23147557, 26168825, 26292654, 27738328, 33706321 |
| Endometriosis |
Associate
|
33436679 |
| Epilepsy |
Associate
|
23962720 |
| Gastroschisis |
Associate
|
31075877 |
| Glioblastoma |
Inhibit
|
19478061 |
| Glioblastoma |
Associate
|
25113440, 33470396 |
| Glioma |
Associate
|
19478061 |
| Head and Neck Neoplasms |
Associate
|
26267899 |
| Hyperphagia |
Associate
|
36812308 |
| Hypertension |
Associate
|
26425837 |
| Intellectual Disability |
Associate
|
31088393 |
| Laryngeal Neoplasms |
Associate
|
34299935 |
| Leukemia B Cell |
Associate
|
27335277 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
23651669 |
| Lewy Body Disease |
Associate
|
28322283 |
| Liver Diseases |
Associate
|
28159835 |
| Lung Neoplasms |
Associate
|
17420988, 19478061 |
| Lung Neoplasms |
Inhibit
|
20073072 |
| Lymphoma |
Associate
|
27335277 |
| Lymphoma B Cell Marginal Zone |
Associate
|
27335277 |
| Melanoma |
Associate
|
25113440, 25393105, 35603359, 35798829 |
| Mental Disorders |
Associate
|
39457114 |
| Mood Disorders |
Associate
|
29187730 |
| Neoplasm Metastasis |
Associate
|
17420988 |
| Neoplasm Metastasis |
Inhibit
|
31805999 |
| Neoplasms |
Inhibit
|
17420988, 19131950, 19478061, 20073072, 22121227, 22305495, 25412184, 26267899, 28159835, 28345455, 31805999 |
| Neoplasms |
Associate
|
18948947, 23289484, 25113440, 25393105, 27501229, 31576098, 32151175, 34299935, 35603359, 35982066, 36248841, 37602864, 40698865 |
| Neuroblastoma |
Associate
|
17420988, 22305495, 22367537, 23991058 |
| Neurodegenerative Diseases |
Associate
|
22121227 |
| Nocturnal Myoclonus Syndrome |
Associate
|
25142570 |
| Obesity |
Associate
|
36812308 |
| Obsessive Compulsive Disorder |
Associate
|
24821223 |
| Oligodendroglioma |
Associate
|
35982066 |
| Pancreatic Cyst |
Associate
|
31576098 |
| Pancreatic Neoplasms |
Associate
|
26755275, 28099906 |
| Precancerous Conditions |
Associate
|
31576098 |
| Restless Legs Syndrome |
Associate
|
19546859, 21264940, 21572129, 24293752, 25817513 |
| Sarcoma Ewing |
Associate
|
23800680, 25119929 |
| Seizures |
Associate
|
23962720 |
| Small Cell Lung Carcinoma |
Associate
|
35641209 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
26267899, 27501229, 28345455 |
| Stomach Neoplasms |
Associate
|
20331625, 25412184, 28426752 |
| Stomach Neoplasms |
Inhibit
|
31805999 |
| Thyroid Cancer Papillary |
Associate
|
32151175 |
| Urinary Bladder Neoplasms |
Associate
|
33221763 |
| Vascular Diseases |
Associate
|
19525478 |
|