|
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 |
| Atrial Fibrillation |
Atrial fibrillation |
N/A |
N/A |
GWAS |
| Breast cancer |
Breast cancer (survival) |
N/A |
N/A |
GWAS |
| Dementia |
Dementia |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes (PheCode 250.2), Type 2 diabetes |
N/A |
N/A |
GWAS |
| Epilepsy |
epilepsy |
N/A |
N/A |
GenCC |
| Gastric Cancer |
Gastric cancer |
High expression of ZFHX3 predicts the worse outcome of GC patients. |
33499898 |
CBGDA |
| Heart Failure |
Heart failure, Chronic heart failure |
N/A |
N/A |
GWAS |
| Hypospadias |
Hypospadias |
N/A |
N/A |
GWAS |
| Ischemic Stroke |
Ischemic stroke |
N/A |
N/A |
GWAS |
| Mental Depression |
Major depressive disorder |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Neurodevelopmental Disorders |
complex neurodevelopmental disorder, syndromic complex neurodevelopmental disorder |
N/A |
N/A |
GenCC |
| Oligodendroglioma |
Oligodendroglioma |
N/A |
N/A |
GWAS |
| Ovarian cancer |
Epithelial ovarian cancer |
N/A |
N/A |
GWAS |
| Prostate cancer |
Prostate cancer |
N/A |
N/A |
GWAS |
| Prostate Cancer |
prostate cancer, somatic |
N/A |
N/A |
ClinVar |
| Psoriasis |
Psoriasis |
N/A |
N/A |
GWAS |
| Restless Legs Syndrome |
Restless legs syndrome |
N/A |
N/A |
GWAS |
| Sarcoidosis |
Sarcoidosis |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
| Sick Sinus Syndrome |
Sick sinus syndrome |
N/A |
N/A |
GWAS |
| Spinocerebellar Ataxia |
spinocerebellar ataxia type 4 |
N/A |
N/A |
GenCC |
| Thyrotoxic Periodic Paralysis |
Thyrotoxic periodic paralysis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
36103249 |
| Adenoma |
Associate
|
28713972 |
| Alzheimer Disease |
Associate
|
30598117 |
| Anxiety |
Associate
|
35577822 |
| Apraxia oculomotor Cogan type |
Associate
|
38035881 |
| Atrial Fibrillation |
Associate
|
19597491, 19597492, 21107608, 21760908, 22384221, 22726630, 22776031, 23132824, 23428961, 24239840, 24910551, 24983873, 25539802, 26267381, 26272656, 26631084, 27261248, 28007413, 28381281, 29624624, 30180182, 30760287, 33155827, 33350184, 34884836, 37824462, 38164777 View all (12 more) |
| Atrial Standstill |
Associate
|
28381281 |
| Autism Spectrum Disorder |
Associate
|
38412861 |
| Autoimmune Diseases of the Nervous System |
Associate
|
39615603 |
| Brachydactyly |
Associate
|
38412861 |
| Brain Neoplasms |
Associate
|
33479213 |
| Breast Neoplasms |
Inhibit
|
16932943, 20720010, 21367855 |
| Breast Neoplasms |
Associate
|
18416817, 18796146, 22452784, 25501155, 36476423 |
| Brugada Syndrome |
Associate
|
34884836 |
| Carcinogenesis |
Associate
|
24651376, 38412861 |
| Carcinogenesis |
Inhibit
|
36476423 |
| Carcinoma Acinar Cell |
Associate
|
34629449 |
| Carcinoma Adenosquamous |
Associate
|
31958074 |
| Carcinoma Basal Cell |
Associate
|
33928395 |
| Carcinoma Non Small Cell Lung |
Associate
|
23144151, 32653938, 35226388, 35798829 |
| Cardiovascular Diseases |
Associate
|
28515798 |
| Cerebral Infarction |
Associate
|
19597491, 28007413, 32202197, 37653506 |
| Cleft Palate |
Associate
|
38412861 |
| Cognition Disorders |
Associate
|
39615603 |
| Colonic Neoplasms |
Associate
|
28713972 |
| Colorectal Neoplasms |
Associate
|
28713972 |
| Communicable Diseases |
Associate
|
30598117 |
| Coronary Artery Disease |
Associate
|
24983873 |
| Coronary Disease |
Associate
|
25797214 |
| COVID 19 |
Associate
|
37653506 |
| Developmental Disabilities |
Associate
|
38412861 |
| Diabetes Mellitus |
Associate
|
25797214 |
| Dyslipidemias |
Associate
|
25797214 |
| Embolic Stroke |
Associate
|
19597491, 22306652, 25961151, 26708676 |
| Encephalitis Viral |
Associate
|
30598117 |
| Endometrial Neoplasms |
Associate
|
26330387, 33536036 |
| Gastroschisis |
Associate
|
32163230 |
| Growth Disorders |
Associate
|
30809043, 38412861 |
| Hematologic Neoplasms |
Associate
|
39615603 |
| Hepatoblastoma |
Associate
|
33368532 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
21367855, 22452784 |
| Hereditary leiomyomatosis and renal cell cancer |
Associate
|
12865944 |
| Hereditary Sensory and Autonomic Neuropathies |
Associate
|
38035881 |
| Heterotaxy Syndrome |
Associate
|
28381281 |
| Hirschsprung Disease |
Associate
|
29093530 |
| Hodgkin Disease |
Associate
|
12865944 |
| Hyperglycinemia Nonketotic |
Associate
|
38035881 |
| Hypertension |
Associate
|
25797214 |
| Infarction Anterior Cerebral Artery |
Associate
|
26708676 |
| Inflammation |
Associate
|
19132087, 30180182 |
| Intellectual Disability |
Associate
|
38412861 |
| Ischemic Attack Transient |
Associate
|
26631084 |
| Ischemic Stroke |
Associate
|
26631084 |
| Lown Ganong Levine Syndrome |
Associate
|
33155827 |
| Lung Diseases |
Associate
|
33479213 |
| Lymphatic Metastasis |
Inhibit
|
23144151 |
| Motor Disorders |
Associate
|
35577822 |
| Mucocutaneous Lymph Node Syndrome |
Associate
|
19132087, 25539802 |
| Neoplasm Invasiveness |
Inhibit
|
22791392 |
| Neoplasm Metastasis |
Associate
|
33479213 |
| Neoplasms |
Inhibit
|
16932943, 20720010, 21367855, 22452784, 26330387, 28713972, 28984200, 33499898, 36476423, 36613756 |
| Neoplasms |
Associate
|
18796146, 22791392, 23144151, 24651376, 32651179, 32653938, 33933102, 34667026 |
| Neurodegenerative Diseases |
Associate
|
35577822 |
| Neuroinflammatory Diseases |
Associate
|
39615603 |
| Osteosarcoma |
Associate
|
32862606 |
| Polyps |
Associate
|
28713972 |
| Post Acute COVID 19 Syndrome |
Associate
|
39615603 |
| Prosopagnosia |
Associate
|
36097363 |
| Prostate cancer familial |
Associate
|
19035517 |
| Prostatic Neoplasms |
Associate
|
16932943, 18416817, 18796146, 31134918, 35347810 |
| Prostatic Neoplasms |
Inhibit
|
19035517 |
| Prostatic Neoplasms Castration Resistant |
Associate
|
33771885 |
| Retinal Dysplasia |
Associate
|
22791392 |
| Sick Sinus Syndrome |
Associate
|
33580673 |
| Small Cell Lung Carcinoma |
Associate
|
38181741 |
| Spinocerebellar Ataxias |
Associate
|
38035881 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
22791392 |
| Stomach Neoplasms |
Associate
|
14978340, 33933102 |
| Stroke |
Associate
|
22776031, 30760287, 32202197, 34727735 |
| Thromboembolism |
Associate
|
28007413 |
| Uterine Cervical Neoplasms |
Associate
|
32718341, 35205332 |
|