|
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 |
GWAS |
| Benign Prostatic Hyperplasia |
Benign prostatic hyperplasia |
N/A |
N/A |
GWAS |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Frontotemporal dementia |
Frontotemporal dementia |
N/A |
N/A |
GWAS |
| Nervous System Disorder |
congenital nervous system disorder |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Alzheimer Disease |
Associate
|
38175301 |
| Amyotrophic Lateral Sclerosis |
Associate
|
22921269, 22959728, 27584932, 29630712, 30368160, 32627229, 35197626, 35197628, 35567447, 35590152, 36471413, 36930682, 37202167, 37887320, 38175301, 39241471, 40250093 View all (2 more) |
| Carcinoma Hepatocellular |
Associate
|
26162714 |
| Death |
Associate
|
36471413 |
| Frontotemporal Dementia |
Associate
|
25239657, 29630712, 30368160, 30739198, 32627229, 35197626, 35197628, 35567447, 35590152, 36930682, 37979250, 38175301 |
| Frontotemporal Lobar Degeneration |
Associate
|
30368160 |
| Liver Neoplasms |
Associate
|
26162714, 35197628, 37202167, 37887320 |
| Mental Disorders |
Associate
|
32627229 |
| Motor Neuron Disease |
Associate
|
25239657 |
| Neurodegenerative Diseases |
Associate
|
35197628, 38175301 |
| Respiratory Insufficiency |
Associate
|
36471413 |
| TDP 43 Proteinopathies |
Associate
|
35197628, 38175301 |
|