|
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 |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
N/A |
N/A |
GWAS |
| Atrial Fibrillation |
Atrial fibrillation |
N/A |
N/A |
GWAS |
| Breast Cancer |
Breast cancer |
N/A |
N/A |
GWAS |
| Dyslexia |
Dyslexia |
N/A |
N/A |
GWAS |
| Mental Depression |
Major depressive disorder |
N/A |
N/A |
GWAS |
| Multiple Sclerosis |
Multiple sclerosis |
N/A |
N/A |
GWAS |
| Restless Legs Syndrome |
Restless legs syndrome |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
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 |
| Abnormalities Drug Induced |
Associate
|
23294540 |
| Alzheimer Disease |
Associate
|
20308783, 22486522 |
| Amyotrophic Lateral Sclerosis |
Associate
|
35525134, 35869263 |
| Anxiety |
Associate
|
37029353 |
| Ataxia |
Associate
|
23935513, 37592453, 8037204 |
| Attention Deficit Disorder with Hyperactivity |
Associate
|
21302343 |
| Breast Neoplasms |
Associate
|
28212558, 32420379 |
| Carcinogenesis |
Associate
|
28212558 |
| Central Nervous System Neoplasms |
Associate
|
35836290 |
| Cerebellar Ataxia |
Associate
|
22520093, 7922453 |
| Cerebellar Diseases |
Associate
|
35869263 |
| Cerebral Infarction |
Associate
|
32633380 |
| Cognition Disorders |
Associate
|
23294540 |
| Congenital Hereditary and Neonatal Diseases and Abnormalities |
Associate
|
18231590 |
| COVID 19 |
Associate
|
35328087 |
| Dehydrated Hereditary Stomatocytosis Pseudohyperkalemia and Perinatal Edema |
Associate
|
29221444 |
| Disease |
Associate
|
34372915 |
| Epilepsy |
Associate
|
32633380, 35354251 |
| Fibrosis |
Associate
|
36976650 |
| Friedreich Ataxia |
Associate
|
9429138 |
| Frontotemporal Dementia |
Associate
|
37146135 |
| Gambling |
Associate
|
22780124 |
| Genetic Diseases Inborn |
Associate
|
23528090, 30933216 |
| Glioma |
Associate
|
32600379 |
| Hearing Loss |
Associate
|
34286861 |
| Hypoxia |
Inhibit
|
28212558 |
| Intellectual Disability |
Associate
|
23294540 |
| Interstitial Pneumonitis Desquamative Familial |
Associate
|
24825461 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
17116127 |
| Leukemia Myeloid Acute |
Associate
|
8750194 |
| Leukemia Prolymphocytic T Cell |
Associate
|
17116127 |
| Lymphoproliferative Disorders |
Associate
|
24377530 |
| Machado Joseph Disease |
Associate
|
21909428, 7922453 |
| Machado Joseph Disease |
Stimulate
|
9106530 |
| Mental Disorders |
Associate
|
21302343 |
| Multiple Sclerosis |
Associate
|
35903875 |
| Myopia |
Associate
|
36036911 |
| Myotonic Dystrophy |
Associate
|
38308084 |
| Neoplasms |
Associate
|
24377530, 28212558, 29560860, 31617074 |
| Neurodegenerative Diseases |
Associate
|
12700301, 15292212, 28212558, 35903875 |
| Neurotoxicity Syndromes |
Associate
|
35354251 |
| Oligospermia |
Associate
|
19597981 |
| Osteoarthritis |
Associate
|
24825461 |
| Parkinson Disease Secondary |
Associate
|
22623900 |
| Plaque Atherosclerotic |
Associate
|
29221444 |
| Psychotic Disorders |
Associate
|
16380905 |
| Retinopathy of Prematurity |
Associate
|
37894989 |
| Sarcoma |
Associate
|
35836290 |
| Schizophrenia |
Associate
|
16380905, 31175266 |
| Seizures |
Associate
|
35354251 |
| Spinocerebellar Ataxias |
Associate
|
11986402, 15750336, 1676561, 18231590, 1928103, 20037628, 2063871, 22666429, 23528090, 25344417, 27106293, 28212558, 29057148, 29656178, 31381977, 32145456, 32335388, 34635619, 35903875, 35906672, 36459834, 38578603, 39289638, 39307401, 39456985, 8037204, 8912795 View all (12 more) |
| Spinocerebellar Ataxias |
Stimulate
|
29316893 |
| Spinocerebellar Degenerations |
Stimulate
|
24708620 |
| Spinocerebellar Degenerations |
Associate
|
31645175 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
33146897 |
| Substance Related Disorders |
Associate
|
36078646 |
| Tongue Neoplasms |
Associate
|
33146897 |
| Tremor |
Associate
|
29057148 |
| Uterine Cervical Neoplasms |
Associate
|
28212558 |
| Vascular Remodeling |
Associate
|
36976650 |
| Ventricular Remodeling |
Associate
|
36976650 |
|