|
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 |
| Atrial Fibrillation |
Atrial fibrillation |
N/A |
N/A |
GWAS |
| Breast Cancer |
Breast cancer |
N/A |
N/A |
GWAS |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Heart Failure |
Heart failure |
N/A |
N/A |
GWAS |
| Hypertension |
Essential hypertension (time to event) |
N/A |
N/A |
GWAS |
| Inflammatory Bowel Disease |
Inflammatory bowel disease |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Rheumatoid arthritis |
Rheumatoid arthritis |
N/A |
N/A |
GWAS |
| Sjogren-Larsson Syndrome |
Sjogren-Larsson Syndrome |
N/A |
N/A |
GWAS |
| Systemic lupus erythematosus |
Systemic lupus erythematosus |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Agnosia |
Associate
|
16971481 |
| Anxiety |
Associate
|
26285132 |
| Arthritis Rheumatoid |
Associate
|
27272985, 31520790 |
| Astrocytoma |
Associate
|
28448514 |
| Autism Spectrum Disorder |
Associate
|
33208191 |
| Autistic Disorder |
Associate
|
25429715 |
| Breast Neoplasms |
Inhibit
|
16611241 |
| Breast Neoplasms |
Associate
|
31215771, 35317849 |
| Chromosome Duplication |
Associate
|
26285132 |
| Cognition Disorders |
Associate
|
15994861, 19568270, 22608712 |
| Colorectal Neoplasms |
Associate
|
33925358 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
28657656 |
| Dyslexia |
Associate
|
18445785 |
| Exfoliation Syndrome |
Associate
|
36794549 |
| Facial Dysmorphism with Multiple Malformations |
Associate
|
19568270 |
| Fragile X Syndrome |
Associate
|
36292679 |
| Hyperostosis Diffuse Idiopathic Skeletal |
Associate
|
22608712 |
| Hypomagnesemia 5 Renal with Ocular Involvement |
Associate
|
31374066 |
| Intellectual Disability |
Associate
|
32349160 |
| Kidney Diseases |
Associate
|
31374066 |
| Leukemia Erythroblastic Acute |
Associate
|
28657656 |
| Lupus Erythematosus Systemic |
Associate
|
26686423, 31374066, 31520790 |
| Lupus Nephritis |
Associate
|
31374066 |
| Memory Disorders |
Associate
|
22608712 |
| Mental Disorders |
Associate
|
25429715 |
| Myasthenia Gravis |
Associate
|
34497477, 36114454 |
| Neoplasm Metastasis |
Associate
|
31215771 |
| Neoplasms |
Associate
|
12493763, 26656605, 33925358, 34367733, 36114454 |
| Neuromyelitis Optica |
Associate
|
31520790 |
| Non alcoholic Fatty Liver Disease |
Associate
|
35891648 |
| Phobia Social |
Associate
|
25429715, 26853120, 28424317 |
| Phobia Social |
Inhibit
|
26853120 |
| Prostatic Neoplasms |
Associate
|
21503958 |
| Proteinuria |
Associate
|
31374066 |
| Rhabdomyosarcoma Alveolar |
Associate
|
34367733 |
| Scleroderma Systemic |
Stimulate
|
34248934 |
| Scleroderma Systemic |
Associate
|
34248934 |
| Sjogren's Syndrome |
Associate
|
26686423, 31520790 |
| Thymic epithelial tumor |
Associate
|
24974848, 28400429, 34033229, 36114454 |
| Thymoma |
Associate
|
24974848, 31641231, 34104648, 34497477, 36853782, 37489594 |
| Williams Syndrome |
Associate
|
12796854, 15388857, 15994861, 16971481, 19205026, 19282872, 19568270, 22608712, 23118870, 25105779, 25429715, 26285132, 26853120, 28098859, 28424317, 31204697, 33208191, 33859276, 35379245, 38097729, 40024325 View all (6 more) |
|