|
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 |
| Asthma |
Asthma onset (childhood vs adult), Asthma (moderate or severe), Asthma, Asthma in any disease, Asthma (childhood onset), Nonatopic asthma, Atopic asthma, Asthma (adult onset) |
N/A |
N/A |
GWAS |
| Dermatitis |
Atopic dermatitis |
N/A |
N/A |
GWAS |
| Eczema |
Eczema |
N/A |
N/A |
GWAS |
| Eosinophilia |
Eosinophilic esophagitis |
N/A |
N/A |
GWAS |
| Glaucoma |
glaucoma 1, open angle, G |
N/A |
N/A |
GenCC |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
| Open Angle Glaucoma |
glaucoma 1, open angle, g, Primary open angle glaucoma |
N/A |
N/A |
ClinVar |
| Usher Syndrome |
Usher syndrome type 2C |
N/A |
N/A |
ClinVar |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Asthma |
Associate
|
22694930, 26119467 |
| Cataract |
Associate
|
27307692 |
| Color Vision Defects |
Associate
|
34681019 |
| Coronary Disease |
Associate
|
36459010 |
| Diabetes Mellitus |
Associate
|
25669751 |
| Eosinophilic Esophagitis |
Associate
|
25407941, 26119467 |
| Eye Diseases |
Associate
|
34681019 |
| Glaucoma |
Associate
|
16518310, 17563717, 18172102, 21528004, 21850170, 21931130, 23599335, 31367175, 38241218 |
| Glaucoma 1 Open Angle A |
Associate
|
16518310 |
| Glaucoma 3 Primary Congenital A |
Associate
|
31367175 |
| Glaucoma Open Angle |
Associate
|
18172102, 19145250, 19347049, 21850170, 21931130, 22025897, 25414181, 25637523, 25669751, 29104481, 34681019 |
| Hypertension |
Associate
|
29104481 |
| Infertility Male |
Associate
|
31103287 |
| Low Tension Glaucoma |
Associate
|
17563723, 21850170, 22025897, 34681019 |
| Neurodegenerative Diseases |
Associate
|
34681019 |
| Retinal Diseases |
Associate
|
34681019 |
| Retinitis Pigmentosa |
Associate
|
21931130 |
| Vision Disorders |
Associate
|
34681019 |
|