|
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 |
| Borderline personality disorder |
Borderline personality disorder |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Proliferative Diabetic Retinopathy |
Proliferative diabetic retinopathy |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Alzheimer Disease |
Stimulate
|
27604409 |
| Alzheimer Disease |
Associate
|
30342961, 3368468, 36611808, 36635346, 7566340, 7573369, 9011750 |
| Alzheimer Disease |
Inhibit
|
32776690 |
| Anaplasia |
Associate
|
36739296 |
| Atrial Fibrillation |
Associate
|
24301786 |
| Breast Neoplasms |
Associate
|
12495447, 35296631 |
| CD8 Deficiency Familial |
Associate
|
7751163 |
| Celiac Disease |
Stimulate
|
33686834 |
| Cognition Disorders |
Associate
|
32776690 |
| Colorectal Neoplasms |
Inhibit
|
33402155 |
| Dementia |
Inhibit
|
29324989 |
| Dementia |
Associate
|
7573369 |
| Diabetic Neuropathies |
Inhibit
|
23685187 |
| Endometriosis |
Associate
|
17412328 |
| Glioblastoma |
Associate
|
24601786 |
| Glioma |
Associate
|
34173871, 36739296 |
| Graft vs Host Disease |
Associate
|
6372895 |
| Hirschsprung Disease |
Associate
|
29654647 |
| HIV Infections |
Associate
|
7751163 |
| Inflammation |
Stimulate
|
31754174 |
| Livedoid Vasculopathy |
Associate
|
7573369 |
| Lymphatic Metastasis |
Stimulate
|
31568662 |
| Lymphocytosis |
Associate
|
7751163 |
| Melanoma |
Stimulate
|
23887302 |
| Meningomyelocele |
Associate
|
28735706 |
| Microphthalmia Syndromic 10 |
Associate
|
36611808 |
| Mouth Diseases |
Associate
|
7573369 |
| Multiple Sclerosis |
Associate
|
25231264 |
| Multiple Sclerosis |
Inhibit
|
31754174 |
| Multiple Sclerosis Relapsing Remitting |
Stimulate
|
31754174 |
| Myocardial Infarction |
Associate
|
36759072 |
| Neoplasms |
Associate
|
31568662, 34173871, 36739296 |
| Nerve Sheath Neoplasms |
Associate
|
23887302 |
| Neurilemmoma |
Stimulate
|
23887302, 26121316 |
| Neuroblastoma |
Associate
|
17409494, 19216736, 19460840, 29507419, 33230715, 33402155, 8344386, 9006328 |
| Neuroblastoma |
Stimulate
|
21194500 |
| Neurodegenerative Diseases |
Associate
|
40229714, 7573369 |
| Neurofibroma |
Stimulate
|
23887302 |
| Neurofibrosarcoma |
Stimulate
|
23887302 |
| Neuroma |
Associate
|
39362479 |
| Nevus |
Associate
|
10433947 |
| Pain |
Associate
|
23685187 |
| Parkinson Disease |
Associate
|
26748453 |
| Pelvic Pain |
Associate
|
17412328 |
| Peritoneal Diseases |
Associate
|
17412328 |
| Post Acute COVID 19 Syndrome |
Stimulate
|
38231284 |
| Retrograde Degeneration |
Associate
|
7573369 |
| Rupture |
Associate
|
29385715 |
| Schizophrenia |
Associate
|
34667143, 8943081 |
| Sciatic Neuropathy |
Associate
|
34501579 |
| Sleep Wake Disorders |
Associate
|
40229714 |
| Thalassemia |
Associate
|
36066284 |
| Thyroid Cancer Papillary |
Associate
|
31568662 |
| Thyroid Neoplasms |
Stimulate
|
31568662 |
| Urinary Bladder Neoplasms |
Associate
|
35958598 |
|