|
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 |
| Eosinophilia |
Eosinophilic esophagitis |
N/A |
N/A |
GWAS |
| Heart Failure |
Heart failure |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Myocardial Infarction |
Myocardial infarction |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
40186888 |
| Adenocarcinoma of Lung |
Associate
|
31939443, 35035660, 35801241, 37311571 |
| Alzheimer Disease |
Associate
|
36334414 |
| Anemia Hemolytic |
Associate
|
30755497 |
| beta Thalassemia |
Associate
|
26377036 |
| Breast Neoplasms |
Associate
|
11301010, 14983014, 15125843, 15878853, 16430786, 17145708, 17596542, 18628483, 23021409, 24366869, 24395801, 28349828, 28889753, 34351577, 36084789, 37231268, 37827129, 37963558, 40710214 View all (4 more) |
| Breast Neoplasms |
Inhibit
|
20173781 |
| Carcinogenesis |
Associate
|
17145708 |
| Carcinoma Hepatocellular |
Associate
|
20127796, 35154476, 36419136 |
| Carcinoma Non Small Cell Lung |
Associate
|
32228546 |
| Carcinoma Pancreatic Ductal |
Associate
|
29930735 |
| Carcinoma Renal Cell |
Associate
|
36178067 |
| Chromosomal Instability |
Associate
|
17145708 |
| Chromosome Disorders |
Associate
|
16153896 |
| Colorectal Neoplasms |
Associate
|
20978114, 34390174, 36453019 |
| COVID 19 |
Associate
|
36334414 |
| Dementia |
Inhibit
|
36334414 |
| Diabetes Mellitus |
Associate
|
36978091 |
| Down Syndrome |
Associate
|
16492768, 24938108 |
| Esophageal Neoplasms |
Associate
|
35067159 |
| Fanconi Anemia |
Associate
|
16153896, 17106252, 17145708, 17596542, 23157317 |
| Fanconi Anemia Complementation Group J |
Associate
|
16153896 |
| Glioma |
Associate
|
36116740, 36181980 |
| Glomerulonephritis |
Associate
|
40186888 |
| Glomerulonephritis IGA |
Associate
|
31067541 |
| Glycosuria Renal |
Associate
|
36978091 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
14983014, 23157317, 27399284, 33619228 |
| Infections |
Associate
|
30755497 |
| Inflammation |
Associate
|
36084789, 36178067, 37602966 |
| Kidney Diseases |
Associate
|
40186888 |
| Kidney Neoplasms |
Associate
|
22307849 |
| Leukemia Megakaryoblastic Acute |
Associate
|
16492768 |
| Leukemia Myeloid Acute |
Associate
|
20345481 |
| Lung Diseases |
Associate
|
36084789 |
| Lung Neoplasms |
Associate
|
31257029 |
| Lung Neoplasms |
Stimulate
|
35035660 |
| Lupus Nephritis |
Associate
|
33013825 |
| Lymphatic Metastasis |
Associate
|
31939443 |
| Lymphoma Large B Cell Diffuse |
Associate
|
30755497 |
| Multiple Sclerosis Relapsing Remitting |
Inhibit
|
33013825 |
| Neoplasm Metastasis |
Associate
|
24349199, 28349828, 28889753, 31257029, 31939443, 35154476, 37231268, 40710214 |
| Neoplasms |
Associate
|
11301010, 14983014, 15020404, 24366869, 24395801, 27999449, 28349828, 29930735, 33619228, 34807950, 35154476, 35406740, 35801241, 36084789, 36178067, 36181980, 37231268, 37311571, 37827129, 37963558, 40710214 View all (6 more) |
| Neurodegenerative Diseases |
Associate
|
21555518, 37919861 |
| Osteoporosis |
Associate
|
39182017 |
| Osteosarcoma |
Associate
|
32390598, 34191748 |
| Ovarian Neoplasms |
Associate
|
20386703, 34075060 |
| Pancreatic Neoplasms |
Associate
|
40315568 |
| Parkinson Disease |
Associate
|
37919861 |
| Periodontitis |
Stimulate
|
37602966 |
| Prostatic Neoplasms |
Associate
|
28889753 |
| Renal Tubular Transport Inborn Errors |
Stimulate
|
40186888 |
| Triple Negative Breast Neoplasms |
Associate
|
31939443, 35406740, 37672716 |
| Wounds and Injuries |
Associate
|
22698995 |
| X linked sideroblastic anemia |
Stimulate
|
35637209 |
|