|
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 |
| Dementia |
Dementia |
N/A |
N/A |
GWAS |
| Ectodermal Dysplasia |
ectodermal dysplasia syndrome |
N/A |
N/A |
GenCC |
| Stress Disorder |
Post-traumatic stress disorder |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acrocephalosyndactylia |
Associate
|
11106356 |
| Aggressive Periodontitis |
Associate
|
10662808, 26607765, 34515563 |
| Alzheimer Disease |
Associate
|
37925455 |
| Asthma |
Associate
|
15038835, 37438356 |
| Carcinoma Adenosquamous |
Associate
|
34326696 |
| Carcinoma Hepatocellular |
Associate
|
36189226 |
| Carcinoma Renal Cell |
Associate
|
26575290, 32331211 |
| Congenital Disorders of Glycosylation |
Associate
|
37069668 |
| Death Sudden Cardiac |
Stimulate
|
34737793 |
| Dihydropyrimidine Dehydrogenase Deficiency |
Associate
|
20797317 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
39840762 |
| Frontotemporal Dementia |
Associate
|
24943344 |
| Glioma |
Associate
|
33946049 |
| Hyperkeratosis Epidermolytic |
Associate
|
16585980 |
| Hypersensitivity Immediate |
Associate
|
15585850 |
| Infections |
Associate
|
17220626 |
| Inflammation |
Associate
|
11886537, 12857359, 34737793 |
| Keratosis palmoplantaris with periodontopathia and onychogryposis |
Associate
|
10662808, 21393975, 31557781 |
| Liver Neoplasms |
Associate
|
26301107 |
| Lymphoma |
Associate
|
33883344 |
| Lymphoma B Cell |
Associate
|
33883344 |
| Muscular Dystrophy Duchenne |
Associate
|
6773986 |
| Narcolepsy |
Associate
|
37188663 |
| Narcolepsy 1 |
Associate
|
37188663 |
| Neoplasms |
Associate
|
30008265 |
| Papillon Lefevre Disease |
Associate
|
10593994, 11158173, 11180012, 11886537, 12857359, 15585850, 16585980, 16926422, 17943190, 18791284, 19816003, 20236208, 20359428, 20797317, 23311634, 23397598, 23904161, 25244092, 25244098, 25260376, 25799584, 33586345, 34513733, 34932608, 35292437 View all (10 more) |
| Papillon Lefevre Disease |
Inhibit
|
11106356, 39455238 |
| Paraparesis Tropical Spastic |
Associate
|
36052089 |
| Periodontal Diseases |
Associate
|
10593994, 25260376 |
| Periodontitis |
Associate
|
10662808, 12857359, 20359428, 34515563, 34932608 |
| Pulmonary Atelectasis |
Associate
|
32561683 |
| Status Asthmaticus |
Associate
|
15038835 |
| Tooth Injuries |
Associate
|
26607765 |
| Vasculitis |
Associate
|
29925593, 35292437 |
|