|
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 |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension |
N/A |
N/A |
GWAS |
| Ovarian cancer |
Epithelial ovarian cancer |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
24661909 |
| Adenocarcinoma of Lung |
Associate
|
24661909, 37748077 |
| Amyotrophic Lateral Sclerosis |
Associate
|
20801718 |
| Breast Neoplasms |
Associate
|
11328805, 20444703, 20819206, 35773411 |
| Breast Neoplasms |
Stimulate
|
27562113 |
| Carcinoma |
Associate
|
22302986 |
| Carcinoma Ductal Breast |
Associate
|
27562113 |
| Carcinoma Hepatocellular |
Associate
|
24551096, 25739101, 37047360 |
| Carcinoma Intraductal Noninfiltrating |
Stimulate
|
27562113 |
| Carcinoma Non Small Cell Lung |
Associate
|
37748077 |
| Carcinoma Pancreatic Ductal |
Associate
|
35844783 |
| Carcinoma Renal Cell |
Associate
|
20429013 |
| Carcinoma Squamous Cell |
Associate
|
26716504 |
| Cholangiocarcinoma |
Associate
|
26884821 |
| Colonic Neoplasms |
Associate
|
20826792 |
| Colorectal Neoplasms |
Associate
|
15655826, 19276682, 28347238, 34526059 |
| Familial medullary thyroid carcinoma |
Associate
|
33692755 |
| Infections |
Associate
|
20585556 |
| Leukemia |
Associate
|
17352239, 20215110 |
| Leukemia Lymphoma Adult T Cell |
Associate
|
20215110 |
| Lung Neoplasms |
Associate
|
22524833, 37748077 |
| Lymphatic Metastasis |
Associate
|
19276682, 22524833, 24661909, 26369827, 26884821 |
| Lymphatic Metastasis |
Stimulate
|
20429013 |
| Lymphoma T Cell |
Associate
|
24350867, 26959888 |
| Neoplasm Metastasis |
Associate
|
11274357, 15655826, 17003780, 22302986, 22524833, 26369827 |
| Neoplasms |
Associate
|
17003780, 18246045, 20429013, 20637541, 20819206, 22302986, 22524833, 23322732, 25973950, 26369827, 26959888, 27562113, 28423360, 37047360, 40303408 |
| Neoplasms |
Stimulate
|
23950931 |
| Neuroblastoma |
Associate
|
22367537, 28423360 |
| Obesity |
Associate
|
24136929 |
| Osteosarcoma |
Associate
|
25973950 |
| Ovarian Neoplasms |
Associate
|
32948241 |
| Pancreatic Neoplasms |
Associate
|
18472958, 23322732, 24136929, 40303408 |
| Prostatic Hyperplasia |
Associate
|
40392613 |
| Prostatic Intraepithelial Neoplasia |
Stimulate
|
17003780 |
| Prostatic Neoplasms |
Associate
|
17003780, 38246227 |
| Prostatitis |
Stimulate
|
17003780 |
| Retinoblastoma |
Associate
|
23950931 |
| Spondylometaepiphyseal Dysplasia Short Limb Hand Type |
Associate
|
37047360 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
26369827 |
| Squamous Intraepithelial Lesions |
Stimulate
|
22443139 |
| Stomach Neoplasms |
Associate
|
18246045, 23534724, 38246227 |
| Tertiary Lymphoid Structures |
Associate
|
17003780 |
| Thyroid cancer medullary |
Associate
|
33692755 |
| Triple Negative Breast Neoplasms |
Associate
|
27902969 |
| Uterine Cervical Neoplasms |
Associate
|
30504727 |
|