|
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 |
| Allergic Sensitization |
Allergic sensitization |
N/A |
N/A |
GWAS |
| Alopecia Areata |
Alopecia areata |
N/A |
N/A |
GWAS |
| Asthma |
Asthma onset (childhood vs adult), Asthma (childhood onset), Nonatopic asthma, Asthma (age of onset), Atopic asthma, Age of onset of adult onset asthma, Asthma in any disease, Pediatric asthma, Asthma |
N/A |
N/A |
GWAS |
| Carcinoma |
Squamous cell carcinoma, Basal cell carcinoma |
N/A |
N/A |
GWAS |
| Celiac disease |
Celiac disease |
N/A |
N/A |
GWAS |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes with ophthalmic manifestations (PheCode 250.23), Type 2 diabetes and end-stage kidney disease, Glycaemic response to GLP-1 agonist treatment in type 2 diabetes (HbA1c reduction), Type 2 diabetes (PheCode 250.2), Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes (young onset) and obesity, Type 2 diabetes |
N/A |
N/A |
GWAS |
| Dyslexia |
Dyslexia |
N/A |
N/A |
GWAS |
| Eczema |
Eczema |
N/A |
N/A |
GWAS |
| Follicular lymphoma |
Follicular lymphoma |
N/A |
N/A |
GWAS |
| Glaucoma |
Glaucoma |
N/A |
N/A |
GWAS |
| Hyperthyroidism |
Hyperthyroidism |
N/A |
N/A |
GWAS |
| Hypothyroidism |
Hypothyroidism |
N/A |
N/A |
GWAS |
| Inflammatory Bowel Disease |
Inflammatory bowel disease |
N/A |
N/A |
GWAS |
| Kidney Disease |
Chronic kidney disease |
N/A |
N/A |
GWAS |
| Lymphocytic Leukemia |
Chronic lymphocytic leukemia |
N/A |
N/A |
GWAS |
| Multiple Sclerosis |
Multiple sclerosis |
N/A |
N/A |
GWAS |
| Oligodendroglioma |
Oligodendroglioma |
N/A |
N/A |
GWAS |
| Psoriasis |
Psoriasis |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
| Systemic lupus erythematosus |
Systemic lupus erythematosus |
N/A |
N/A |
GWAS |
| Ulcerative colitis |
Ulcerative colitis |
N/A |
N/A |
GWAS |
| Vitiligo |
Vitiligo |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
23874428, 30621612 |
| Arthritis Juvenile |
Associate
|
20647273 |
| Atelosteogenesis type 2 |
Associate
|
16567472 |
| Breast Neoplasms |
Associate
|
30597111 |
| Celiac Disease |
Associate
|
19073967, 23152861, 24278174 |
| Colorectal Neoplasms |
Associate
|
24673742 |
| Congenital Abnormalities |
Associate
|
33084842 |
| Diabetes Mellitus Type 1 |
Associate
|
19073967 |
| Diabetes Mellitus Type 2 |
Associate
|
25799151 |
| Endometrial Neoplasms |
Associate
|
36047377 |
| Gallbladder Neoplasms |
Associate
|
27623942 |
| Hamartoma |
Associate
|
16567472 |
| Hyperlipidemias |
Associate
|
27777315 |
| Hypersensitivity Delayed |
Associate
|
33084842 |
| Leukemia Erythroblastic Acute |
Associate
|
24681953 |
| Lipoma |
Associate
|
16567472, 16821597, 18383898, 19528502, 24681953, 28775176 |
| Liposarcoma |
Associate
|
16821597 |
| Lung Neoplasms |
Associate
|
30621612 |
| Lymphatic Metastasis |
Associate
|
30621612 |
| Lymphoma |
Associate
|
34381423 |
| Lymphoma Follicular |
Associate
|
25279986 |
| Lymphoma Large B Cell Diffuse |
Associate
|
18615101 |
| Lymphoma Non Hodgkin |
Associate
|
28264017 |
| Malignant mesenchymal tumor |
Associate
|
16821597 |
| Multiple Myeloma |
Associate
|
28775176 |
| Neoplasm Metastasis |
Associate
|
24673742 |
| Neoplasms |
Associate
|
15649318, 25435355, 35178446, 35725412 |
| Osteoarthritis |
Associate
|
31523167 |
| Pancreatic Neoplasms |
Associate
|
31101117 |
| Polycystic Ovary Syndrome |
Associate
|
23056290 |
| Pulmonary Arterial Hypertension |
Associate
|
33066286 |
| Pulmonary Veno Occlusive Disease |
Associate
|
33066286 |
| Sarcoma |
Associate
|
31739284 |
| Tendinopathy |
Associate
|
16567472 |
| VACTERL association |
Associate
|
34338422 |
| VATER association |
Associate
|
34338422 |
| Vitiligo |
Associate
|
20410501, 22951725 |
|