|
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 |
| Lung adenocarcinoma |
Familial squamous cell lung carcinoma |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| 13q deletion syndrome |
Stimulate
|
34573300 |
| Adenocarcinoma |
Stimulate
|
21916995 |
| Adenocarcinoma |
Associate
|
25283374 |
| Adenocarcinoma of Lung |
Associate
|
35157971 |
| Adenoma |
Stimulate
|
29475922 |
| Attention Deficit Disorder with Hyperactivity |
Associate
|
22539971 |
| Autistic Disorder |
Associate
|
12826745 |
| Barrett Esophagus |
Associate
|
21916995, 25283374 |
| Bone Diseases Metabolic |
Associate
|
36728938 |
| Breast Neoplasms |
Associate
|
26621833, 31223610, 31773701 |
| Calcinosis Cutis |
Stimulate
|
31223610 |
| Carcinogenesis |
Associate
|
28851816, 31636360, 37762326 |
| Carcinoma Pancreatic Ductal |
Associate
|
22797009, 28883702 |
| Carcinoma Renal Cell |
Associate
|
25605241 |
| Cholangiocarcinoma |
Associate
|
22983262, 24948044, 32978808 |
| Cognition Disorders |
Associate
|
22539971 |
| Colonic Diseases |
Associate
|
28851816 |
| Colonic Neoplasms |
Associate
|
28851816 |
| Colonic Polyps |
Associate
|
29475922 |
| Colorectal Neoplasms |
Associate
|
24384857, 24885928, 24948044, 25599653, 25605241, 25631749, 26383518, 28414327, 28851816, 31636360, 32671503, 33268966, 34958000, 37998393 |
| COVID 19 |
Associate
|
35943255 |
| Endometrial Neoplasms |
Associate
|
35404759 |
| Esophagitis |
Associate
|
21916995 |
| Gastrointestinal Neoplasms |
Associate
|
24885928, 26621833, 27287716 |
| Hodgkin Disease |
Associate
|
32572888 |
| Hypotension |
Associate
|
22539971 |
| Idiopathic Pulmonary Fibrosis |
Stimulate
|
35130915 |
| Infections |
Associate
|
16548883, 35943255 |
| Inflammation |
Associate
|
35943255 |
| Intestinal Neoplasms |
Associate
|
24384857 |
| Klatskin Tumor |
Associate
|
32978808 |
| Language Disorders |
Associate
|
12826745 |
| Liver Diseases |
Associate
|
35943255 |
| Lymphatic Metastasis |
Stimulate
|
28621231 |
| Major Affective Disorder 2 |
Associate
|
22539971 |
| Mesothelioma |
Associate
|
28560410 |
| Mesothelioma Malignant |
Associate
|
28560410 |
| Neoplasm Metastasis |
Associate
|
25066378, 25605241, 31636360, 32756469, 35404759, 37838282 |
| Neoplasm Metastasis |
Stimulate
|
28621231 |
| Neoplasms |
Associate
|
22797009, 22983262, 24384857, 24885928, 25605241, 25631749, 26785732, 27287716, 28883702, 31223610, 32756469, 33268966, 33515271, 34958000, 35157971, 37069669, 37762326, 37838282 View all (3 more) |
| Neoplasms |
Stimulate
|
26383518, 29475922 |
| Nervous System Diseases |
Associate
|
34573300 |
| Neuroblastoma |
Associate
|
32495887 |
| Neuroendocrine Tumors |
Associate
|
26621833 |
| Osteogenesis imperfecta type 3 |
Stimulate
|
25605241 |
| Ovarian Neoplasms |
Associate
|
37838282 |
| Pancreatic Neoplasms |
Associate
|
22797009, 25283374, 27287716, 28244691, 28883702 |
| Pancreatitis |
Associate
|
28244691 |
| Prostatic Neoplasms |
Associate
|
26990456 |
| Prostatic Neoplasms Castration Resistant |
Associate
|
26990456 |
| Retinal Dysplasia |
Stimulate
|
21916995, 29475922 |
| Schizophrenia |
Associate
|
22539971 |
| Stomach Neoplasms |
Associate
|
28946555, 30702489, 32423385 |
| Triple Negative Breast Neoplasms |
Associate
|
32406563, 37069669 |
| Tuberculosis Multidrug Resistant |
Associate
|
33515271 |
| Urinary Bladder Neoplasms |
Associate
|
28621231 |
| Viremia |
Associate
|
35943255 |
|