|
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 |
| Leber Congenital Amaurosis |
leber congenital amaurosis |
N/A |
N/A |
ClinVar |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
16598760, 18831746 |
| Arthritis Psoriatic |
Stimulate
|
1335015 |
| Barrett Esophagus |
Associate
|
18831746 |
| Breast Neoplasms |
Associate
|
20716965, 25287138 |
| Breast Neoplasms |
Stimulate
|
29720147 |
| Breast Neoplasms |
Inhibit
|
35269414 |
| Carcinoma Non Small Cell Lung |
Associate
|
16598760, 32909215 |
| Carcinoma Squamous Cell |
Associate
|
1335015 |
| Cholangiocarcinoma |
Associate
|
17550320 |
| Colonic Neoplasms |
Associate
|
36518255 |
| Death |
Associate
|
22945948, 29720147 |
| Endometrial Hyperplasia |
Associate
|
16575402 |
| Esophageal Squamous Cell Carcinoma |
Inhibit
|
16128742 |
| Fetal Growth Retardation |
Stimulate
|
28157488 |
| Gastrointestinal Neoplasms |
Associate
|
32883271 |
| Glioblastoma |
Associate
|
22945948, 40348204 |
| Glioma |
Associate
|
22945948 |
| Glioma |
Stimulate
|
34866280 |
| Liver Cirrhosis |
Associate
|
35168183 |
| Lung Neoplasms |
Associate
|
32909215 |
| Lymphoma Large B Cell Diffuse |
Associate
|
18288132 |
| Mammary Neoplasms Animal |
Inhibit
|
35269414 |
| Multiple Myeloma |
Associate
|
23699600 |
| Neoplasms |
Inhibit
|
16128742, 20716965, 24040446, 37392167 |
| Neoplasms |
Associate
|
16575402, 18831746, 18843024, 21514413, 22945948, 23699600, 29720147, 34866280 |
| Ovarian Diseases |
Associate
|
19110304 |
| Ovarian Neoplasms |
Associate
|
19110304, 20132413, 29720147 |
| Polycystic Ovary Syndrome |
Associate
|
27846214 |
| Prostatic Neoplasms |
Associate
|
15280411, 29720147 |
| Prostatitis |
Associate
|
15280411 |
| Rectal Neoplasms |
Associate
|
28291773 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
29720147, 33466212, 35426219 |
| Stomach Neoplasms |
Associate
|
16134180 |
| Urinary Bladder Neoplasms |
Associate
|
18843024, 36030212 |
| Uterine Cervical Neoplasms |
Associate
|
18217980, 24040446 |
|