|
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 |
| Amyotrophic Lateral Sclerosis |
amyotrophic lateral sclerosis |
N/A |
N/A |
GenCC |
| Amyotrophic lateral sclerosis |
frontotemporal dementia and/or amyotrophic lateral sclerosis 5 |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Amyotrophic Lateral Sclerosis |
Associate
|
28852778, 29021214, 31164693, 31445393, 33670299, 35231559, 36114006, 36674783, 37208601, 37220877, 37243816, 37993492 |
| Amyotrophic lateral sclerosis 1 |
Associate
|
29021214, 31445393 |
| Burkitt Lymphoma |
Associate
|
26468873 |
| Carcinoma Hepatocellular |
Inhibit
|
23305207 |
| Carcinoma Hepatocellular |
Associate
|
34397798 |
| Carcinoma Pancreatic Ductal |
Stimulate
|
35046938 |
| Carcinoma Renal Cell |
Associate
|
31739630 |
| Colorectal Neoplasms |
Associate
|
31087508, 34308980 |
| Frontotemporal Dementia |
Associate
|
28852778, 29021214, 35231559, 37220877, 37243816, 37993492 |
| HIV Infections |
Associate
|
28184007 |
| Melanoma |
Associate
|
29767233, 32020229 |
| Melanoma Cutaneous Malignant |
Associate
|
29767233 |
| Neoplasms |
Associate
|
23305207, 26468873, 34397798 |
| Nerve Degeneration |
Associate
|
29021214 |
| Osteosarcoma |
Associate
|
39324133 |
| Ovarian Neoplasms |
Associate
|
28319064 |
| Polycystic Kidney Diseases |
Associate
|
7896286 |
| Retinoblastoma |
Associate
|
34851822 |
|