|
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), Atopic asthma, Asthma, Asthma (adult onset), Asthma onset (childhood vs adult) |
N/A |
N/A |
GWAS |
| Carcinoma |
Basal cell carcinoma |
N/A |
N/A |
GWAS |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes or prostate cancer (pleiotropy), Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes with renal manifestations (PheCode 250.22), Type 2 diabetes with ophthalmic manifestations (PheCode 250.23), Type 2 diabetes (PheCode 250.2), Type 2 diabetes, Diabetes, Body mass index and type 2 diabetes (pairwise) |
N/A |
N/A |
GWAS |
| Eczema |
Eczema |
N/A |
N/A |
GWAS |
| Eosinophilia |
Eosinophilic esophagitis |
N/A |
N/A |
GWAS |
| Gout |
Gout |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Moyamoya Disease |
Moyamoya disease |
N/A |
N/A |
GWAS |
| Multiple Sclerosis |
Multiple sclerosis |
N/A |
N/A |
GWAS |
| Ovarian cancer |
Epithelial ovarian cancer |
N/A |
N/A |
GWAS |
| Prostate cancer |
Prostate cancer (late onset), Prostate cancer |
N/A |
N/A |
GWAS |
| Psoriasis |
Psoriasis |
N/A |
N/A |
GWAS |
| Rheumatoid arthritis |
Rheumatoid arthritis |
N/A |
N/A |
GWAS |
| Systemic lupus erythematosus |
systemic lupus erythematosus, Systemic lupus erythematosus |
N/A |
N/A |
GenCC, GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenosarcoma |
Associate
|
36639698 |
| Adenosarcoma of the uterus |
Associate
|
36639698 |
| Alzheimer Disease |
Associate
|
38511601 |
| Arteriolosclerosis |
Associate
|
24135527 |
| Arthritis Juvenile |
Associate
|
30940621 |
| Arthritis Rheumatoid |
Stimulate
|
29193869 |
| Arthritis Rheumatoid |
Associate
|
31945409 |
| Asthma |
Associate
|
31945409 |
| Breast Neoplasms |
Associate
|
33728753 |
| Carcinogenesis |
Associate
|
24801046, 32856873, 33728753, 35649353 |
| Colorectal Neoplasms |
Associate
|
21602532 |
| Crohn Disease |
Associate
|
26937622 |
| Diabetes Mellitus |
Associate
|
18567820, 19998368, 36651297 |
| Diabetes Mellitus Type 1 |
Associate
|
35846288 |
| Diabetes Mellitus Type 2 |
Associate
|
18567820, 18694974, 18952825, 19020324, 19558691, 19592620, 20644627, 21602532, 22086326, 22113416, 22275441, 23193118, 24376643, 25785549, 27655316, 32948839, 33390804, 35846288 View all (3 more) |
| Endometrial Stromal Tumors |
Associate
|
11371647, 27154512, 28125717, 32317704, 34651371, 35649353, 36731460 |
| Endometriosis |
Associate
|
28125717 |
| Eosinophilic Esophagitis |
Associate
|
29904099 |
| Gastrointestinal Stromal Tumors |
Associate
|
36639698 |
| Growth Disorders |
Associate
|
18952825 |
| Hypoglycemia |
Associate
|
18952825 |
| Inflammatory Bowel Diseases |
Associate
|
26937622, 40312552 |
| Insulin Resistance |
Associate
|
33390804 |
| Lupus Erythematosus Systemic |
Associate
|
19838195, 20406958, 34952359, 40312552 |
| Malignant mesenchymal tumor |
Associate
|
32889887, 33986460 |
| MASS syndrome |
Associate
|
31615558 |
| Multiple Sclerosis |
Associate
|
31945409 |
| Neoplasm Invasiveness |
Inhibit
|
32856873 |
| Neoplasms |
Associate
|
18077430, 32317704, 32856873, 32889887, 34928964, 36651297, 37406360 |
| Obesity |
Associate
|
18567820, 32948839, 37800791 |
| Osteoarthritis |
Associate
|
31945409 |
| Osteoporosis |
Associate
|
37831088 |
| Perivascular Epithelioid Cell Neoplasms |
Associate
|
34561551 |
| Personality Disorders |
Associate
|
20406958, 25274378 |
| Prostatic Neoplasms |
Associate
|
18952825, 19318432, 19558691, 19998368, 20406958, 20460480, 21071540, 21538423, 22086326, 23193118, 24411283, 24497837, 24801046, 25274378, 36166196 |
| Sarcoma |
Associate
|
34561551 |
| Sarcoma Endometrial Stromal |
Associate
|
22918161, 22982899, 26429873, 28758277, 31281901, 31615558, 32385140, 34561551, 34651371, 34928964, 35649353, 35710139, 36731460, 37406360 |
| Thalassemia |
Associate
|
35322124 |
| Thyroid Cancer Papillary |
Associate
|
32856873 |
| Urinary Bladder Neoplasms |
Associate
|
37800791 |
| Uterine Neoplasms |
Associate
|
31615558 |
|