|
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 |
| Hirschsprung Disease |
Hirschsprung disease, susceptibility to, 1 |
N/A |
N/A |
ClinVar |
| Hypertrophic cardiomyopathy |
Hypertrophic cardiomyopathy |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
30720096 |
| Asthma |
Associate
|
22432035 |
| Breast Neoplasms |
Associate
|
27374178 |
| Carcinoma Hepatocellular |
Associate
|
30259695, 35199873 |
| Carcinoma Pancreatic Ductal |
Associate
|
40274200 |
| Colorectal Neoplasms |
Associate
|
32319594 |
| COVID 19 |
Associate
|
35885892 |
| Glioblastoma |
Associate
|
28035070, 39684695 |
| Glioma |
Associate
|
35496054 |
| Hepatitis B |
Associate
|
30259695 |
| Hepatitis B Chronic |
Associate
|
30259695 |
| Hirschsprung Disease |
Associate
|
26559152 |
| Infections |
Associate
|
37758692 |
| Inflammation |
Associate
|
38051912 |
| Influenza Human |
Associate
|
37758692 |
| Laryngeal Neoplasms |
Associate
|
23409183 |
| Liver Cirrhosis |
Associate
|
30259695 |
| Liver Diseases |
Associate
|
30259695 |
| Melanoma |
Inhibit
|
26672724 |
| Mesothelioma |
Associate
|
29334678 |
| Mesothelioma Malignant |
Associate
|
29334678 |
| Neoplasm Metastasis |
Associate
|
31110158, 35199873 |
| Neoplasm Metastasis |
Inhibit
|
34689136 |
| Neoplasms |
Inhibit
|
1608957 |
| Neoplasms |
Associate
|
23409183, 26352260, 27374178, 29950347, 31110158, 33564071, 33961796, 39684695, 40274200 |
| Neuroblastoma |
Associate
|
11535620 |
| Neuroblastoma |
Inhibit
|
1608957, 8381120 |
| Neuroendocrine Tumors |
Associate
|
36026497 |
| Non Muscle Invasive Bladder Neoplasms |
Associate
|
33456631, 33465047 |
| Ovarian Neoplasms |
Inhibit
|
34689136 |
| Prostatic Neoplasms Castration Resistant |
Associate
|
31110158 |
| Pulmonary Disease Chronic Obstructive |
Stimulate
|
38051912 |
| Rhabdomyosarcoma |
Associate
|
33564071 |
| Spinocerebellar Ataxias |
Associate
|
30259695, 36713363 |
| Thymoma |
Associate
|
27832160 |
| Thyroid Cancer Papillary |
Associate
|
32065787 |
| Urethral Diseases |
Associate
|
29950347 |
| Urinary Bladder Neoplasms |
Associate
|
29950347, 33048468, 33888644, 34329197, 34905506, 35958586, 36495164 |
|