|
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 |
| Cardiomyopathy |
familial isolated restrictive cardiomyopathy |
N/A |
N/A |
GenCC |
| Myopathy |
cardiomyopathy, familial restrictive, 6 |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acute Aortic Syndrome |
Associate
|
31721906 |
| Adenocarcinoma of Lung |
Associate
|
31322267, 35810236, 36524130, 37322027, 37752167, 38281298 |
| Aortic Dissection |
Associate
|
31721906 |
| Breast Neoplasms |
Stimulate
|
24391143 |
| Breast Neoplasms |
Associate
|
30593585, 31895772, 34384030, 36930083 |
| Carcinogenesis |
Associate
|
28901457, 32695240 |
| Carcinoma Hepatocellular |
Associate
|
28901457, 29500859, 31811111, 32046048, 32382568, 32722976, 33102593, 33736645, 33784984, 34112092, 34315286, 34491228, 34746301, 35123420, 35322101, 36120772, 38052560 View all (2 more) |
| Carcinoma Non Small Cell Lung |
Associate
|
31775549, 33126319 |
| Carcinoma Ovarian Epithelial |
Associate
|
33726773, 36768616 |
| Carcinoma Renal Cell |
Associate
|
29749467, 33232285, 33287763, 33836688, 36637953, 37310408 |
| Carcinoma Squamous Cell |
Associate
|
27941992 |
| Cardiomyopathies |
Associate
|
29357359 |
| Cardiomyopathy Restrictive |
Associate
|
29357359 |
| Colorectal Neoplasms |
Stimulate
|
32695240 |
| COVID 19 |
Associate
|
35749386 |
| Death |
Associate
|
29500859 |
| Fibrosis |
Associate
|
31811111 |
| Glioblastoma |
Associate
|
34018447 |
| Glioma |
Associate
|
35774141, 37248320, 37744243 |
| Hepatitis B |
Associate
|
33102593 |
| Inflammation |
Associate
|
37310408 |
| Intervertebral Disc Degeneration |
Associate
|
34545328 |
| Kidney Neoplasms |
Associate
|
36637953 |
| Kidney Neoplasms |
Stimulate
|
37310408 |
| Leukemia Myeloid Acute |
Associate
|
33579308 |
| Lymphatic Metastasis |
Stimulate
|
27941992, 32695240 |
| Melanoma |
Associate
|
22854760, 34659201 |
| Mesothelioma Malignant |
Associate
|
33032291, 36523602 |
| Nasopharyngeal Carcinoma |
Associate
|
28081138 |
| Nasopharyngeal Neoplasms |
Associate
|
28081138 |
| Neoplasm Metastasis |
Associate
|
28081138, 31871312 |
| Neoplasm Metastasis |
Stimulate
|
31093305, 32695240 |
| Neoplasms |
Associate
|
24391143, 27941992, 28052097, 28081138, 29500859, 29749467, 31571332, 32695240, 33232285, 34315286, 34556750, 34728699, 34746301, 37248320 |
| Neoplasms |
Stimulate
|
36637953 |
| Osteosarcoma |
Associate
|
29760609, 39324133 |
| Ovarian Neoplasms |
Associate
|
29749467, 31871312 |
| Pancreatic Neoplasms |
Associate
|
22854760, 25499221 |
| Papillomavirus Infections |
Associate
|
27941992 |
| Prostatic Neoplasms |
Associate
|
34198380 |
| Prostatic Neoplasms Castration Resistant |
Stimulate
|
35418689 |
| Protein S Deficiency |
Associate
|
38052560 |
| Pyruvate Carboxylase Deficiency Disease |
Associate
|
35418689 |
| Retinoblastoma |
Associate
|
33217867 |
| Stomach Neoplasms |
Associate
|
21931799 |
| Urinary Bladder Neoplasms |
Associate
|
31093305, 36637953, 37310408 |
| Uterine Cervical Neoplasms |
Associate
|
27941992 |
|