|
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 |
Age of onset of childhood onset asthma, Asthma |
N/A |
N/A |
GWAS |
| Colorectal Cancer |
Colorectal cancer |
N/A |
N/A |
GWAS |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Dental caries |
Dental caries |
N/A |
N/A |
GWAS |
| Dermatitis |
Atopic dermatitis |
N/A |
N/A |
GWAS |
| Eczema |
Eczema |
N/A |
N/A |
GWAS |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
| Glioma |
Glioma |
N/A |
N/A |
GWAS |
| Inflammatory Bowel Disease |
Inflammatory bowel disease, Inflammatory bowel disease (MTAG) |
N/A |
N/A |
GWAS |
| Long QT Syndrome |
long qt syndrome |
N/A |
N/A |
ClinVar |
| Lung adenocarcinoma |
Lung adenocarcinoma (conditioned on cigarettes per day), Lung adenocarcinoma |
N/A |
N/A |
GWAS |
| Prostate cancer |
Prostate cancer |
N/A |
N/A |
GWAS |
| Pulmonary Fibrosis |
Idiopathic pulmonary fibrosis |
N/A |
N/A |
GWAS |
| Ulcerative colitis |
Ulcerative colitis |
N/A |
N/A |
GWAS |
| Uterine Fibroids |
Uterine fibroids |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acute On Chronic Liver Failure |
Associate
|
31317042 |
| Anemia Sickle Cell |
Associate
|
19251437 |
| Arthritis Rheumatoid |
Associate
|
17393415, 20187130, 26956410 |
| Arthritis Rheumatoid |
Stimulate
|
20592286 |
| Autoimmune Diseases of the Nervous System |
Associate
|
10632670 |
| Bacterial Infections |
Stimulate
|
14688085 |
| Breast Neoplasms |
Associate
|
24612949, 30513096 |
| Bronchiolitis Obliterans Syndrome |
Stimulate
|
33078555 |
| Calcinosis Cutis |
Associate
|
18813347 |
| Carcinogenesis |
Associate
|
25422191, 27517320 |
| Carcinoma Ductal |
Stimulate
|
27517320 |
| Carcinoma Ductal Breast |
Associate
|
27517320 |
| Carcinoma Hepatocellular |
Associate
|
16273601, 20977315, 29444104 |
| Carcinoma Ovarian Epithelial |
Associate
|
22583667 |
| Carcinoma Renal Cell |
Associate
|
18813347, 24107265 |
| CD59 Deficiency |
Stimulate
|
20592286 |
| Cholangiocarcinoma |
Associate
|
29271385 |
| Colitis Ulcerative |
Associate
|
16856205 |
| Colonic Neoplasms |
Associate
|
10318773 |
| Colonic Neoplasms |
Stimulate
|
10655513 |
| Colorectal Neoplasms |
Associate
|
19735100, 24764685 |
| COVID 19 |
Associate
|
36405703 |
| Crohn Disease |
Associate
|
19039087, 21079743 |
| Drug Related Side Effects and Adverse Reactions |
Inhibit
|
10318773 |
| Endometrial Neoplasms |
Associate
|
38458034 |
| Endometriosis |
Associate
|
38458034 |
| Epstein Barr Virus Infections |
Associate
|
17301127 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
20567955 |
| Fibrosis |
Associate
|
23449012, 27218286 |
| Gallbladder Neoplasms |
Associate
|
22524850 |
| Gastrointestinal Neoplasms |
Associate
|
10655513 |
| Glioblastoma |
Associate
|
33169458 |
| Glioma |
Associate
|
24741354 |
| Glomerulonephritis IGA |
Associate
|
18256354 |
| Glycosuria Renal |
Associate
|
23449012 |
| Head and Neck Neoplasms |
Stimulate
|
24597666 |
| Hemorrhagic Fever with Renal Syndrome |
Associate
|
25647584 |
| Histiocytoma Malignant Fibrous |
Associate
|
23817777 |
| Hypoxia |
Stimulate
|
38458034 |
| Hypoxia Brain |
Associate
|
38458034 |
| Idiopathic Pulmonary Fibrosis |
Associate
|
27218286 |
| IgA Vasculitis |
Associate
|
17393415 |
| Infections |
Associate
|
36405703 |
| Inflammation |
Associate
|
19039087, 20592286, 25647584, 26956410 |
| Inflammatory Bowel Diseases |
Associate
|
20187130, 22647538 |
| Kidney Diseases |
Associate
|
25647584, 26335204 |
| Kidney Failure Chronic |
Associate
|
26335204 |
| Lung Neoplasms |
Associate
|
10655513 |
| Lupus Erythematosus Systemic |
Stimulate
|
10632670 |
| Lymphatic Metastasis |
Stimulate
|
18813347, 19697059, 24107265, 24597666, 24764685, 25422191 |
| Lymphatic Metastasis |
Associate
|
19735100, 22524850, 23186064, 27517320 |
| Lymphatic Vessel Tumors |
Associate
|
23186064 |
| Lymphoma Non Hodgkin |
Associate
|
23186064 |
| Mouth Neoplasms |
Associate
|
38044583 |
| Neoplasm Metastasis |
Associate
|
16273601, 19735100, 20977315, 29271385 |
| Neoplasm Metastasis |
Stimulate
|
18813347 |
| Neoplasms |
Stimulate
|
10655513, 18006694, 27806260 |
| Neoplasms |
Associate
|
15475369, 16273601, 17301127, 17393415, 18163957, 19036015, 19050262, 19735100, 20977315, 22524850, 22583667, 23186064, 23449012, 23817777, 24612949, 24741354, 24764685, 27517320, 30513096 View all (4 more) |
| Neoplasms Adipose Tissue |
Associate
|
37676424 |
| Neoplasms Squamous Cell |
Associate
|
20567955, 23186064 |
| Oliguria |
Stimulate
|
25647584 |
| Osteoarthritis |
Associate
|
17393415, 21420502 |
| Ovarian Neoplasms |
Associate
|
22583667, 24848881 |
| Pancreatic Neoplasms |
Associate
|
19050262, 22524850 |
| Prostatic Neoplasms |
Associate
|
32552802 |
| Proteinuria |
Associate
|
23449012, 25647584 |
| Renal Insufficiency Chronic |
Associate
|
23449012, 26335204 |
| Sepsis |
Stimulate
|
22647538 |
| Silicosis |
Associate
|
10632670 |
| Stomach Neoplasms |
Associate
|
19697059 |
| Urinary Bladder Neoplasms |
Associate
|
25422191, 34404901 |
|