|
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 |
| Acne |
acne vulgaris |
N/A |
N/A |
GWAS |
| Alopecia Areata |
Alopecia areata |
N/A |
N/A |
GWAS |
| Asthma |
Adult asthma, Asthma (adult onset), Age of onset of adult onset asthma, Asthma, Asthma in any disease, Asthma onset (childhood vs adult), Asthma (moderate or severe), Asthma (childhood onset), Pediatric asthma, Nonatopic asthma, Atopic asthma, Age of onset of childhood onset 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 |
| Carcinoma |
Basal cell carcinoma |
N/A |
N/A |
GWAS |
| Common Variable Immunodeficiency |
Common variable immunodeficiency |
N/A |
N/A |
GWAS |
| Dermatitis |
Atopic dermatitis |
N/A |
N/A |
GWAS |
| Diabetes |
Type 1 diabetes |
N/A |
N/A |
GWAS |
| Eczema |
Eczema |
N/A |
N/A |
GWAS |
| Eosinophilia |
Eosinophilic esophagitis |
N/A |
N/A |
GWAS |
| Multiple Sclerosis |
Multiple sclerosis |
N/A |
N/A |
GWAS |
| Nasal polyposis |
Nasal polyps |
N/A |
N/A |
GWAS |
| Psoriasis |
Psoriasis |
N/A |
N/A |
GWAS |
| Sclerosing Cholangitis |
Primary sclerosing cholangitis |
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 |
| Addison Disease |
Associate
|
19734133, 20220768 |
| Adenoma Islet Cell |
Associate
|
36622793 |
| Arthritis Juvenile |
Associate
|
19734133, 34101054 |
| Arthritis Rheumatoid |
Associate
|
19734133 |
| Asthma |
Associate
|
24388013 |
| Autoimmune Diseases |
Associate
|
19734133, 21989056, 25823473, 34643957 |
| Bone Diseases |
Associate
|
23133532 |
| Celiac Disease |
Associate
|
20190752 |
| Colitis Ulcerative |
Associate
|
19337309 |
| Crohn Disease |
Associate
|
19337309, 20220768 |
| Diabetes Mellitus |
Associate
|
19337309, 21873553, 31570815 |
| Diabetes Mellitus Type 1 |
Associate
|
18647951, 19337309, 19734133, 20220768, 21270831, 21873553, 21989056, 24237155, 25008175, 26782299, 30628751, 30970177, 31570815, 36622793 |
| Drug Hypersensitivity |
Associate
|
24388013 |
| Fractures Bone |
Associate
|
23133532 |
| Graves Disease |
Associate
|
24646814 |
| Hashimoto Disease |
Associate
|
24646814 |
| Hepatitis B |
Associate
|
39237981 |
| Hip Fractures |
Associate
|
23133532 |
| Inflammation |
Associate
|
23133532 |
| Inflammatory Bowel Diseases |
Associate
|
19337309 |
| Liver Cirrhosis Biliary |
Associate
|
22257840 |
| Lupus Erythematosus Systemic |
Associate
|
19838195, 26121298, 39796169 |
| Multiple Sclerosis |
Associate
|
18987646, 19337309, 19865102, 20220768, 20368992, 21653641, 21989056, 25823473, 26203907, 31228212, 34246256, 34643957, 36282535 |
| Muscular Dystrophy Duchenne |
Associate
|
23133532 |
| Osteoporotic Fractures |
Associate
|
23133532 |
| Rhinitis Allergic Seasonal |
Associate
|
24388013 |
| Thyroiditis Autoimmune |
Associate
|
24646814 |
|