|
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 |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acute Coronary Syndrome |
Associate
|
24356513 |
| Allergic Fungal Sinusitis |
Associate
|
21978707 |
| Asthma |
Associate
|
20483734, 20663412, 24573880, 32302698 |
| Blood Platelet Disorders |
Stimulate
|
24356513 |
| Coronary Artery Disease |
Associate
|
30123216 |
| Coronary Disease |
Associate
|
24356513 |
| Craniosynostoses |
Associate
|
21978707 |
| Dermatitis Atopic |
Associate
|
24573880 |
| Dermatitis Atopic |
Stimulate
|
26288354 |
| Dermatitis Atopic 1 |
Stimulate
|
25113532 |
| Dermatitis Atopic 3 |
Associate
|
20663412 |
| Disease |
Associate
|
22368272 |
| Down Syndrome |
Associate
|
20139093, 21106984, 25105841, 28033648, 28461505 |
| Drug Hypersensitivity |
Associate
|
20483734 |
| Eosinophilic Esophagitis |
Associate
|
20620568 |
| Genetic Diseases Inborn |
Associate
|
25049327 |
| Glucocorticoid Receptor Deficiency |
Associate
|
31318944 |
| Heart Defects Congenital |
Associate
|
26044615 |
| Hepatitis B |
Associate
|
20018760 |
| Hirschsprung disease type d brachydactyly |
Associate
|
21106984 |
| Hypereosinophilic Syndrome |
Associate
|
24573880 |
| Immune System Diseases |
Associate
|
30123216 |
| Inflammation |
Associate
|
20483734, 21978707, 27240835, 28640909, 30535452 |
| Inflammatory Bowel Diseases |
Associate
|
24573880 |
| Intervertebral disc disease |
Inhibit
|
28746197 |
| Leukemia |
Associate
|
21536738, 31318944, 38192186 |
| Leukemia B Cell |
Associate
|
21536738 |
| Leukemia Biphenotypic Acute |
Stimulate
|
20018760 |
| Leukemia Biphenotypic Acute |
Associate
|
20378752, 28033648, 28557976, 30535452, 31830053, 33890726, 38192186 |
| Lung Neoplasms |
Associate
|
34440780 |
| Multiple Sclerosis |
Associate
|
21287555 |
| Nasal Polyps |
Associate
|
39940994 |
| Nose Diseases |
Associate
|
24573880 |
| Philadelphia Chromosome |
Associate
|
27561722, 28461505, 29997224, 31318944, 32881995, 34505882, 36076986, 36738086, 37819686 |
| Philadelphia Chromosome |
Stimulate
|
28408464 |
| Precursor B Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
20378752, 23930217, 23974192, 27176795, 27561722, 30535452, 36076986 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
20018760, 20139093, 21106984, 21647151, 22368272, 22685175, 24141364, 24573880, 26018335, 27391346, 27449287, 27561722, 27855558, 27870571, 27899802, 28033648, 28245838, 28408464, 28461505, 29982439, 31318944, 33890726, 34505882, 34787376, 36485097, 36738086, 37819686, 37895004 View all (13 more) |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Stimulate
|
27919910, 36848637 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
25105841, 27449287, 31830053 |
| Pulmonary Alveolar Proteinosis |
Associate
|
28233860 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
24430176 |
| Renal Insufficiency |
Associate
|
31830053 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
32529991 |
| Status Asthmaticus |
Associate
|
32842623 |
| Surfactant Metabolism Dysfunction Pulmonary 1 |
Associate
|
28233860 |
| Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities |
Associate
|
36848637, 37156894 |
| Thrombosis |
Associate
|
24356513 |
|