|
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 |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Asthma |
Asthma in any disease, Asthma (childhood onset), Atopic asthma, Asthma |
N/A |
N/A |
GWAS |
| Breast Cancer |
Breast cancer |
N/A |
N/A |
GWAS |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Coronary Heart Disease |
Coronary heart disease |
N/A |
N/A |
GWAS |
| Eczema |
Eczema |
N/A |
N/A |
GWAS |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
| Hypertension |
Resistant hypertension |
N/A |
N/A |
GWAS |
| Hypogonadotropic Hypogonadism |
hypogonadotropic hypogonadism |
N/A |
N/A |
GenCC |
| Inflammatory Bowel Disease |
Inflammatory bowel disease |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Kallmann Syndrome |
Kallmann syndrome |
N/A |
N/A |
GenCC |
| Multiple Sclerosis |
Multiple sclerosis |
N/A |
N/A |
GWAS |
| Testicular Germ Cell Tumor |
Testicular germ cell tumor |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Brain Neoplasms |
Inhibit
|
31374860 |
| Breast Neoplasms |
Associate
|
24402575, 25742952, 28651500, 29410498, 30104400, 36274054, 36376369 |
| Carcinogenesis |
Associate
|
25742952, 27997895, 28720069, 29214989 |
| Carcinoma Ductal |
Inhibit
|
34048471 |
| Carcinoma Ductal Breast |
Associate
|
34048471 |
| Carcinoma Hepatocellular |
Associate
|
28651500, 32733618 |
| Carcinoma Hepatocellular |
Stimulate
|
29214989 |
| Carcinoma Intraductal Noninfiltrating |
Associate
|
34048471 |
| Carcinoma Non Small Cell Lung |
Associate
|
15705594, 25337221, 28275056, 28651500 |
| Carcinoma Non Small Cell Lung |
Inhibit
|
20501643 |
| Carcinoma Non Small Cell Lung |
Stimulate
|
26453113 |
| Carcinoma Renal Cell |
Associate
|
25337221 |
| Carcinoma Squamous Cell |
Associate
|
22427941 |
| Cell Transformation Neoplastic |
Associate
|
25835973 |
| Cleft Palate |
Associate
|
30273098 |
| Colonic Neoplasms |
Associate
|
26768845 |
| Colorectal Neoplasms |
Stimulate
|
27391336, 36384366 |
| Colorectal Neoplasms |
Inhibit
|
27997895 |
| Colorectal Neoplasms |
Associate
|
28099409, 28651500, 28720069, 29410498, 30205577, 34163032 |
| Cryptorchidism |
Associate
|
27561106 |
| Disease |
Associate
|
36376369 |
| Endometrial Neoplasms |
Associate
|
24811094 |
| Esophageal Neoplasms |
Associate
|
33757566 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
25337221, 27453415, 27956498, 28651500 |
| Esophageal Squamous Cell Carcinoma |
Stimulate
|
26883252 |
| Gallbladder Neoplasms |
Stimulate
|
27902971 |
| Glioblastoma |
Associate
|
31374860 |
| Glioma |
Stimulate
|
26464658 |
| Glioma |
Associate
|
27460732, 29048686, 36231068 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Inhibit
|
34048471 |
| Infertility |
Associate
|
27561106 |
| Intellectual Disability |
Associate
|
28539120 |
| Kallmann Syndrome |
Associate
|
33670044 |
| Kidney Neoplasms |
Associate
|
25337221 |
| Lung Diseases |
Associate
|
20501643 |
| Lung Neoplasms |
Inhibit
|
15705594 |
| Lung Neoplasms |
Associate
|
20501643, 29410498 |
| Lymphatic Metastasis |
Stimulate
|
25973088, 26883252, 33757566 |
| Melanoma |
Associate
|
24223182, 25344859, 26392417, 28651500, 29410498 |
| Neoplasm Metastasis |
Stimulate
|
25835973, 25973088 |
| Neoplasm Metastasis |
Inhibit
|
26464658 |
| Neoplasm Metastasis |
Associate
|
28651500, 28691641, 34163032 |
| Neoplasms |
Inhibit
|
20501643, 22427941, 24402575, 24811094, 26392417, 26883252, 27997895, 29410498, 31374860, 36384366 |
| Neoplasms |
Associate
|
23091610, 25337221, 26464658, 27460732, 28099409, 28651500, 28691641, 29489909, 30104400, 30205577, 33670044, 34163032 |
| Neoplasms |
Stimulate
|
25742952, 25835973, 25973088, 27391336 |
| Neoplasms Germ Cell and Embryonal |
Associate
|
28295819, 29410498, 31235829 |
| Osteosarcoma |
Associate
|
23831057, 33670044 |
| Ovarian Neoplasms |
Inhibit
|
26768617, 28691641 |
| Ovarian Neoplasms |
Stimulate
|
29410498, 34163032 |
| Pancreatic Neoplasms |
Associate
|
29489909 |
| Parkinson Disease |
Associate
|
34868009 |
| Personality Disorders |
Associate
|
34163032 |
| Pre Eclampsia |
Associate
|
24223182 |
| Preeclamptic toxemia |
Stimulate
|
24223182 |
| Prostatitis |
Inhibit
|
29410498 |
| Puberty Delayed |
Associate
|
27561106 |
| Schizophrenia |
Associate
|
23542694 |
| Seminoma |
Associate
|
19483682 |
| Stomach Neoplasms |
Associate
|
25835973, 28651500 |
| Testicular Germ Cell Tumor |
Associate
|
19483682, 21551455, 23104843, 30027931 |
| Testicular Neoplasms |
Associate
|
21564132 |
| Thanatophoric Dysplasia Type I |
Associate
|
19761767 |
| Thyroid Neoplasms |
Associate
|
29300379 |
| Triple Negative Breast Neoplasms |
Inhibit
|
34048471 |
| Urinary Bladder Neoplasms |
Stimulate
|
25973088 |
| Urinary Bladder Neoplasms |
Associate
|
30268126 |
| Uterine Cervical Neoplasms |
Associate
|
35924232 |
|