|
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 |
| Pseudohypoaldosteronism |
Autosomal dominant pseudohypoaldosteronism type 1 |
N/A |
N/A |
ClinVar |
| Pseudohypoparathyroidism |
pseudohypoparathyroidism type 1b |
N/A |
N/A |
ClinVar |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Abnormalities Drug Induced |
Associate
|
35859320 |
| Alzheimer Disease |
Associate
|
28084650, 28711660 |
| Autism Spectrum Disorder |
Associate
|
27404287 |
| Calcium Metabolism Disorders |
Associate
|
34477200 |
| Gastrointestinal Stromal Tumors |
Associate
|
25987131 |
| Heart Failure |
Associate
|
35128826 |
| Obesity |
Associate
|
28453643 |
| Pseudohypoaldosteronism |
Associate
|
25603460, 25997889, 28084650, 33247854, 34477200, 34791361 |
| Pseudohypoparathyroidism |
Associate
|
15800843, 20538864, 20965295, 21062889, 23087324, 24438374, 25843330, 26819647, 33247854, 34477200, 39894498 |
| Pseudohypoparathyroidism Type 1B |
Associate
|
21062889, 28453643, 34157100, 39894498 |
| Pseudohypoparathyroidism Type 1B |
Inhibit
|
35859320 |
| Sleep Deprivation |
Associate
|
24194869 |
|