|
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 |
| Ankylosing Spondylitis |
Ankylosing spondylitis |
N/A |
N/A |
GWAS |
| Developmental And Epileptic Encephalopathy |
genetic developmental and epileptic encephalopathy |
N/A |
N/A |
GenCC |
| Hereditary spastic paraplegia |
Hereditary spastic paraplegia |
N/A |
N/A |
ClinVar |
| Hypertension |
Hypertension |
N/A |
N/A |
GWAS |
| Neurodevelopmental Disorders |
complex neurodevelopmental disorder |
N/A |
N/A |
GenCC |
| Osteoarthritis Of Hip |
Osteoarthritis of the hip or knee (with total joint replacement) |
N/A |
N/A |
GWAS |
| Spastic Paraplegia |
hereditary spastic paraplegia, autosomal recessive spastic paraplegia type 59 |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| ACTH Secreting Pituitary Adenoma |
Associate
|
25675982, 26701869, 28487882, 30093687, 31162547, 31222332, 31280266, 32652004, 34061962, 40544420 |
| Adenocarcinoma |
Stimulate
|
28544031 |
| Adenocarcinoma in Situ |
Associate
|
28544031 |
| Adenocarcinoma of Lung |
Associate
|
28544031 |
| Adenoma |
Associate
|
25675982, 31162547, 31280266, 39684405, 39684597 |
| Adrenocortical Adenoma |
Associate
|
26701869 |
| Alzheimer Disease |
Associate
|
40382655 |
| Azoospermia |
Associate
|
28975488 |
| Breast Neoplasms |
Associate
|
29626091, 31527799, 35361778, 35811497 |
| Carcinoma Hepatocellular |
Associate
|
37311739 |
| Carcinoma Non Small Cell Lung |
Associate
|
35658874 |
| Carcinoma Renal Cell |
Associate
|
37332045 |
| Carcinoma Squamous Cell |
Associate
|
30010158, 31705877 |
| Cardiovascular Abnormalities |
Associate
|
35205232 |
| Combined Pituitary Hormone Deficiency |
Associate
|
35029852 |
| Crohn Disease |
Associate
|
39684405 |
| Cushing Syndrome |
Associate
|
35029852 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
34674795 |
| Genetic Diseases Inborn |
Associate
|
31162547 |
| Glioblastoma |
Associate
|
20484045 |
| Hypertension |
Associate
|
35205232 |
| Hypothyroidism |
Associate
|
35029852 |
| Infertility Male |
Associate
|
28975488 |
| Lung Neoplasms |
Associate
|
30010158 |
| Multiple Myeloma |
Associate
|
22147262 |
| Nelson Syndrome |
Associate
|
35563252 |
| Neoplasm Metastasis |
Associate
|
35811497 |
| Neoplasms |
Associate
|
25675982, 28487882, 28544031, 30010158, 30093687, 31162547, 31222332, 35029852, 35361778, 35563252, 35658874, 35668434, 35811497, 37065760, 37639742, 39684597, 40544420 View all (2 more) |
| Oligospermia |
Associate
|
28975488 |
| Pancreatic Neoplasms |
Associate
|
37639742 |
| Parkinson Disease |
Associate
|
37981592 |
| Pituitary ACTH Hypersecretion |
Associate
|
25675982, 25930709, 28487882, 28505279, 30093687, 31162547, 31222332, 33125691, 34489873, 34750505, 35029852, 35668434, 36123588, 39684405, 39684597 |
| Pituitary Diseases |
Associate
|
35029852 |
| Pituitary Neoplasms |
Associate
|
25675982, 25930709, 32652004, 34489873, 35668434, 40544420 |
| Vitiligo |
Associate
|
37287971 |
|