|
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 |
| Asthma |
Asthma (childhood onset), Age of onset of childhood onset asthma, Atopic asthma, Asthma in any disease, Asthma, Asthma (moderate or severe), Pediatric asthma |
N/A |
N/A |
GWAS |
| Biliary Cholangitis |
Primary biliary cholangitis |
N/A |
N/A |
GWAS |
| Biliary Cirrhosis |
Primary biliary cirrhosis |
N/A |
N/A |
GWAS |
| Breast Cancer |
Postmenopausal breast cancer, Breast cancer (estrogen-receptor negative) |
N/A |
N/A |
GWAS |
| Breast cancer |
Breast cancer, Breast cancer (survival), Breast cancer (male) |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes nephropathy |
N/A |
N/A |
GWAS |
| Eczema |
Eczema |
N/A |
N/A |
GWAS |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
| hereditary cancer |
Hereditary cancer |
N/A |
N/A |
ClinVar |
| Hypothyroidism |
Hypothyroidism |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Monoclonal Gammapathies |
Monoclonal gammopathy of undetermined significance |
N/A |
N/A |
GWAS |
| Oligodendroglioma |
Oligodendroglioma |
N/A |
N/A |
GWAS |
| Ovarian Failure |
primary ovarian failure |
N/A |
N/A |
GenCC |
| Prostate cancer |
Prostate cancer |
N/A |
N/A |
GWAS |
| Rheumatoid arthritis |
Rheumatoid arthritis |
N/A |
N/A |
GWAS |
| Systemic lupus erythematosus |
Systemic lupus erythematosus |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Aneuploidy |
Stimulate
|
27651161 |
| Arthritis Rheumatoid |
Associate
|
24532676, 28361912, 36835215 |
| Asthma |
Associate
|
31095684 |
| Brain Neoplasms |
Associate
|
37878192 |
| Breast Neoplasms |
Associate
|
19330030, 21593217, 21791674, 21844186, 21852249, 21959381, 22232737, 22313133, 22454379, 23190577, 23593120, 23635555, 24139550, 24325915, 24729084, 24743323, 24792587, 25255808, 26094658, 26472073, 27149063, 27467053, 27848153, 29255180, 29316957, 31780696, 32295201 View all (12 more) |
| Breast Neoplasms Male |
Associate
|
23001122, 27149063 |
| Carcinogenesis |
Inhibit
|
12441335 |
| Carcinoma Ovarian Epithelial |
Associate
|
24190013, 26261251 |
| Carcinoma Pancreatic Ductal |
Associate
|
35737913 |
| Carcinoma Squamous Cell |
Associate
|
32098697 |
| Colorectal Neoplasms |
Associate
|
35567913 |
| Corneal Neovascularization |
Associate
|
24498017 |
| Fanconi Anemia |
Associate
|
31584931 |
| Geographic Atrophy |
Associate
|
24498017 |
| Glioma |
Associate
|
20610542 |
| Glycogen Storage Disease Type II |
Associate
|
24498017 |
| Gynecomastia |
Associate
|
32295201 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
24139550, 29255180, 30535121, 33099839 |
| Inflammation |
Associate
|
27683114 |
| Leiomyoma |
Associate
|
23738515, 26787895 |
| Leiomyosarcoma |
Associate
|
28514723, 38141829 |
| Leukemia |
Associate
|
37286545 |
| Lymphatic Metastasis |
Associate
|
27651161 |
| Macular Degeneration |
Associate
|
23455636, 24526414, 26961928, 30535121, 31191752 |
| Nasopharyngeal Carcinoma |
Associate
|
21368091 |
| Neoplasms |
Associate
|
21852249, 26637267, 27467053, 27683114, 30489320, 31584931, 32234758, 32295201, 37344587, 37932833, 38141829, 38417742, 40421962 |
| Neoplasms |
Stimulate
|
27651161 |
| Neoplasms |
Inhibit
|
32669601 |
| Neoplasms Radiation Induced |
Associate
|
36788076 |
| Ovarian Neoplasms |
Associate
|
26261251, 29255180, 37344587, 38041901 |
| Pancreatic Neoplasms |
Associate
|
39256447 |
| Parkinson Disease |
Associate
|
28117402 |
| Perivascular Epithelioid Cell Neoplasms |
Associate
|
38141829 |
| Pituitary Neoplasms |
Associate
|
33622874 |
| Precursor B Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
37286545 |
| Prostatic Neoplasms |
Associate
|
26339569, 26964030, 32234758 |
| Prostatic Neoplasms Castration Resistant |
Associate
|
35735442 |
| Recombinant chromosome 8 syndrome |
Associate
|
35643464 |
| Rectal Neoplasms |
Associate
|
31209889 |
| Retinal Dysplasia |
Associate
|
32098697 |
| Sarcoma |
Associate
|
38141829 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
27683114 |
| Stomach Diseases |
Associate
|
27651161 |
| Stomach Neoplasms |
Associate
|
27651161 |
| T Lymphocytopenia Idiopathic CD4 Positive |
Associate
|
37344587 |
| Tooth Erosion |
Associate
|
28361912 |
| Triple Negative Breast Neoplasms |
Associate
|
21844186, 24325915 |
| Uterine Cervical Neoplasms |
Associate
|
27334422, 27363024 |
|