|
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 |
| Bardet-Biedl Syndrome |
bardet-biedl syndrome 16 |
N/A |
N/A |
ClinVar |
| Myopia |
Myopia |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acth Independent Macronodular Adrenal Hyperplasia |
Associate
|
18559625, 19509103, 22996146 |
| Adenoma |
Associate
|
29183089 |
| Adrenal Cortex Neoplasms |
Associate
|
18559625 |
| Adrenal Gland Neoplasms |
Associate
|
19429701, 19522821, 19549888, 22996146 |
| Adrenocortical Adenoma |
Associate
|
18559625 |
| Adrenocortical Carcinoma |
Associate
|
18491255, 18559625, 20351491, 22996146, 26459559, 35929507 |
| Alzheimer Disease |
Associate
|
33835157 |
| Breast Neoplasms |
Associate
|
30947698 |
| Carney Complex |
Associate
|
19522821, 21047926 |
| Cicatrix Hypertrophic |
Associate
|
30320389 |
| COVID 19 |
Associate
|
34185889 |
| Cushing Syndrome |
Associate
|
18491255, 18559625, 20351491, 30568069, 35929507 |
| Endocrine Gland Neoplasms |
Associate
|
21047926 |
| Epileptic Syndromes |
Associate
|
20351491 |
| Glioblastoma |
Associate
|
35929507 |
| Hyperplasia |
Associate
|
18491255 |
| Infertility Male |
Associate
|
19549888 |
| Neoplasms |
Associate
|
33707600 |
| Neoplasms Germ Cell and Embryonal |
Associate
|
33661511 |
| Neurofibrosarcoma |
Associate
|
33707600 |
| Obesity |
Associate
|
38027204 |
| Parkinson Disease |
Associate
|
40240887 |
| Pigmented Nodular Adrenocortical Disease Primary 1 |
Associate
|
18419788, 18491255, 18559625, 21047926, 30568069 |
| Pigmented Nodular Adrenocortical Disease Primary 2 |
Associate
|
35929507 |
| Prostatic Neoplasms |
Associate
|
20881257 |
| Schizophrenia |
Associate
|
35929507 |
| Sertoli Cell Tumor |
Associate
|
21047926 |
| Testicular Germ Cell Tumor |
Associate
|
19549888, 23771924, 26459559, 33661511 |
| Testicular Neoplasms |
Associate
|
20881257, 21047926, 26459559, 33661511 |
|