|
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 |
| Anxiety Disorder |
Anxiety |
N/A |
N/A |
GWAS |
| Dementia |
Dementia |
N/A |
N/A |
GWAS |
| Huntington Disease |
Huntington disease |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| 22q11 Deletion Syndrome |
Associate
|
27604636 |
| Adenocarcinoma |
Associate
|
26410497, 34814273 |
| Adenocarcinoma of Lung |
Associate
|
24928511 |
| Alzheimer Disease |
Associate
|
23341039, 29055815 |
| Arthritis Rheumatoid |
Associate
|
24178905 |
| Attention Deficit Disorder with Hyperactivity |
Associate
|
29477591 |
| Autistic Disorder |
Associate
|
35466476 |
| Blood Platelet Disorders |
Associate
|
26367242 |
| Brain Edema |
Associate
|
32908869 |
| Breast Neoplasms |
Associate
|
22270867, 34525987, 35178446, 35501580, 37222403 |
| Calcinosis Cutis |
Stimulate
|
10622535 |
| Carcinogenesis |
Associate
|
22265971, 30049187, 35260183 |
| Carcinoma Hepatocellular |
Associate
|
28325773 |
| Carcinoma Non Small Cell Lung |
Associate
|
26410497 |
| Carcinoma Renal Cell |
Associate
|
31690629, 32814710, 37189176 |
| Carcinoma Squamous Cell |
Associate
|
25517770, 32863946 |
| Cell Transformation Neoplastic |
Associate
|
10336639 |
| Cerebral Infarction |
Associate
|
37699956 |
| Cholangiocarcinoma |
Associate
|
18271924 |
| Choriocarcinoma |
Associate
|
22000473 |
| Colorectal Neoplasms |
Associate
|
22874559, 30537927, 30943948, 32908876, 32989212, 33737938 |
| COVID 19 |
Associate
|
34239034, 36293257 |
| Cushing Syndrome |
Stimulate
|
26324161 |
| Diabetes Gestational |
Associate
|
34555239 |
| Diabetes Gestational |
Stimulate
|
39684804 |
| Diabetes Mellitus |
Inhibit
|
37750639 |
| Diabetes Mellitus Type 2 |
Associate
|
33531564 |
| Diarrhea 5 With Tufting Enteropathy Congenital |
Associate
|
30049187 |
| DiGeorge Syndrome |
Associate
|
25892112 |
| Endometrial Neoplasms |
Associate
|
22270867 |
| Fetal Growth Retardation |
Stimulate
|
24011442 |
| Fetal Growth Retardation |
Associate
|
26086828, 33773574 |
| Fetal Growth Retardation |
Inhibit
|
26086828, 37048166 |
| Glaucoma Open Angle |
Associate
|
37940950 |
| Glioblastoma |
Stimulate
|
33843470 |
| Glioblastoma |
Associate
|
35260183, 37750639, 38098117 |
| Glioma |
Associate
|
24124917 |
| Gray Platelet Syndrome |
Associate
|
20524979 |
| Heart Defects Congenital |
Associate
|
25892112, 27604636, 35466476 |
| Heart Diseases |
Associate
|
34492570 |
| HIV Infections |
Stimulate
|
8794382 |
| Huntington Disease |
Associate
|
37898095 |
| Hypoglycemia |
Associate
|
24912776 |
| Hypoxia |
Stimulate
|
17658463, 24011442, 35501580, 35627137 |
| Hypoxia |
Associate
|
31690629, 33737938 |
| Hypoxia Brain |
Stimulate
|
17442736, 31690629 |
| Hypoxia Brain |
Associate
|
29475939, 37194791 |
| Infections |
Stimulate
|
8794382 |
| Inflammation |
Associate
|
24229026 |
| Inflammatory Bowel Diseases |
Associate
|
31618209 |
| Intracranial Aneurysm |
Associate
|
32084215 |
| Isotretinoin embryopathy like syndrome |
Associate
|
25892112 |
| Laryngeal Neoplasms |
Associate
|
25412955 |
| Leukemia T Cell |
Associate
|
32203209 |
| Lung Diseases |
Associate
|
27902598, 37549925 |
| Lung Neoplasms |
Associate
|
32012400 |
| Lupus Erythematosus Systemic |
Associate
|
22007252 |
| Lymphedema |
Associate
|
22270867 |
| Lymphoma Large B Cell Diffuse |
Associate
|
27173341 |
| Melanoma |
Associate
|
37506884 |
| Meningeal Neoplasms |
Associate
|
27399113 |
| Meningioma |
Associate
|
32908869 |
| Monosomy |
Associate
|
33302435 |
| Myocardial Infarction |
Associate
|
38065877, 38253721 |
| Neoplasm Invasiveness |
Stimulate
|
33843470 |
| Neoplasm Metastasis |
Associate
|
33843470 |
| Neoplasms |
Associate
|
10336639, 19138406, 20428049, 25266796, 25517770, 28489118, 31690629, 32863946, 33843470, 35082341, 35552392, 36247875, 36902193, 37134043, 37194791, 37506884, 37549925, 40141095 View all (3 more) |
| Neoplasms |
Stimulate
|
26324161 |
| Neoplasms |
Inhibit
|
35501580, 37750639 |
| Neoplasms Squamous Cell |
Associate
|
25412955 |
| Neurodegenerative Diseases |
Associate
|
35082341 |
| Osteoarthritis |
Associate
|
35720295 |
| Ovarian Neoplasms |
Associate
|
38583177 |
| Polypoidal Choroidal Vasculopathy |
Associate
|
25892112 |
| Pre Eclampsia |
Associate
|
36963633 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
32203209 |
| Pregnancy Complications |
Associate
|
26086828 |
| Primary cortisol resistance |
Associate
|
26324161 |
| Prostate cancer familial |
Associate
|
22270867 |
| Prostatic Neoplasms |
Associate
|
35242214 |
| Prostatic stromal proliferation of uncertain malignant potential |
Associate
|
37194791 |
| Pseudohypoparathyroidism |
Inhibit
|
37898095 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
37710311 |
| Retinal Dysplasia |
Associate
|
37194791 |
| Rupture |
Associate
|
32084215 |
| Sleep Deprivation |
Associate
|
23440187 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
20428049, 29862279, 35920070, 37134043, 40141095 |
| Squamous Cell Carcinoma of Head and Neck |
Stimulate
|
36247875, 37542344 |
| Stomach Neoplasms |
Associate
|
38025711 |
| Thyroid Cancer Papillary |
Associate
|
29978611 |
| Thyroid Neoplasms |
Associate
|
18571834 |
| Tongue Neoplasms |
Associate
|
19138406 |
| Urinary Bladder Neoplasms |
Associate
|
22265971, 25266796, 36902193, 37258572 |
| Uveal melanoma |
Associate
|
33302435 |
| Xanthogranulomatous cholecystitis |
Associate
|
24229026 |
|