|
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 |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Asthma |
Asthma (childhood onset) |
N/A |
N/A |
GWAS |
| Bipolar Disorder |
Bipolar disorder |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Restless Legs Syndrome |
Restless legs syndrome |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Anophthalmos with limb anomalies |
Associate
|
31964914 |
| Attention Deficit Disorder with Hyperactivity |
Associate
|
35052433 |
| Auditory Perceptual Disorders |
Associate
|
35052433 |
| Cognition Disorders |
Associate
|
28143899 |
| Colorectal Neoplasms |
Associate
|
35848491 |
| Constipation |
Associate
|
31115923 |
| Diarrhea |
Associate
|
31115923 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
28529032, 31300418 |
| Erythema Nodosum |
Associate
|
36383784 |
| Fetal Diseases |
Associate
|
31964914 |
| Gastrointestinal Diseases |
Associate
|
31115923, 36383784 |
| Hyperbilirubinemia |
Associate
|
31619706 |
| Hypoalbuminemia |
Associate
|
31619706 |
| Infections |
Associate
|
37058477 |
| Intellectual Disability |
Associate
|
15557513, 16033914, 23983124, 26024445, 28143899 |
| Isotretinoin embryopathy like syndrome |
Associate
|
22552008 |
| Kidney Neoplasms |
Associate
|
31810986 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
24990888 |
| Lupus Erythematosus Systemic |
Stimulate
|
29945920 |
| Lymphoma Mantle Cell |
Associate
|
28529032 |
| Lymphoma Primary Effusion |
Associate
|
31300418, 33411730 |
| Lymphoma T Cell |
Associate
|
34936696 |
| Mental Retardation Autosomal Recessive 4 |
Associate
|
34580524 |
| Mental Retardation X Linked Nonsyndromic |
Associate
|
18452889, 23983124 |
| Mitochondrial Diseases |
Associate
|
33408001 |
| Multiple Myeloma |
Associate
|
21860026, 22552008, 23233657, 23565715, 24129344, 24206017, 24687382, 24914135, 26186254, 26269456, 26430725, 27142104, 27458004, 28083618, 28643330, 29130642, 30026574, 30696815, 30741931, 31115923, 31619706, 32061138, 33416146, 33443552, 33547076, 34115836, 34455369, 34482362, 34583995, 37815734, 39841463 View all (16 more) |
| Myelodysplastic Syndromes |
Associate
|
30042095 |
| Neoplasms |
Associate
|
28771673, 31735695, 33408001 |
| Neoplasms |
Inhibit
|
35579105 |
| Neuroblastoma |
Associate
|
34772733 |
| Neurodevelopmental Disorders |
Associate
|
24687382 |
| Pancreatic Neoplasms |
Associate
|
32893006 |
| Peripheral Nervous System Diseases |
Associate
|
31115923 |
| Polyneuropathies |
Associate
|
31115923 |
| Prehypertension |
Associate
|
31964914 |
| Restless Legs Syndrome |
Associate
|
32729462 |
| Seizures |
Associate
|
28143899 |
| Syndrome |
Associate
|
35013300 |
|