|
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 |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Epidermolysis Bullosa |
epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acute Aortic Syndrome |
Associate
|
32851057 |
| Acute Disease |
Associate
|
32851057 |
| Adenocarcinoma |
Stimulate
|
16489176 |
| Aortic Dissection |
Associate
|
32851057 |
| Arthritis Rheumatoid |
Associate
|
9691097 |
| Brain Diseases |
Associate
|
31758065 |
| Breast Neoplasms |
Inhibit
|
29462126 |
| Breast Neoplasms |
Associate
|
30659093, 33500458 |
| Carcinoma Ductal |
Associate
|
24950714 |
| Carcinoma Intraductal Noninfiltrating |
Associate
|
26464707 |
| Carcinoma Pancreatic Ductal |
Associate
|
31311829 |
| Carcinoma Squamous Cell |
Stimulate
|
16489176 |
| Cholangiocarcinoma |
Associate
|
29511671, 32116234 |
| Colorectal Neoplasms |
Associate
|
24737953, 25096929, 26674523, 32705201, 7493912 |
| Death |
Associate
|
27717396 |
| Ectodermal Dysplasia Skin Fragility Syndrome |
Associate
|
22512483 |
| Endometrial Neoplasms |
Associate
|
37737665 |
| Epidermolysis Bullosa |
Associate
|
22512483, 27717396, 34492382 |
| Epidermolysis Bullosa Junctional |
Associate
|
32198874 |
| Esophageal Neoplasms |
Associate
|
40234833 |
| Glioblastoma |
Associate
|
23652300, 26992919, 30497369, 31844032 |
| Glioma |
Associate
|
23652300, 25761241 |
| Glomerulonephritis Membranous |
Associate
|
30067725 |
| Head and Neck Neoplasms |
Associate
|
28612520 |
| Hepatitis E |
Associate
|
31421623 |
| Hypoxia |
Inhibit
|
25078904 |
| Hypoxia Brain |
Inhibit
|
25078904 |
| Infections |
Associate
|
31421623 |
| Kidney Diseases |
Associate
|
22512483 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
17053842, 26873628 |
| Leukoplakia Hairy |
Associate
|
10918561 |
| Lung Diseases |
Associate
|
23114595 |
| Lung Diseases Interstitial |
Associate
|
22512483, 23114595, 27717396, 32198874, 34492382 |
| Lung Neoplasms |
Associate
|
22266541, 8080732 |
| Lymphatic Metastasis |
Stimulate
|
24006899 |
| Lymphatic Metastasis |
Associate
|
25472585 |
| Lymphoma B Cell |
Associate
|
17053842 |
| Lymphoma Mantle Cell |
Stimulate
|
17053842 |
| Mesothelioma Malignant |
Stimulate
|
24084442 |
| Multiple Organ Failure |
Associate
|
23114595, 27717396 |
| Muscular Dystrophy Duchenne |
Associate
|
32157826 |
| Nails Malformed |
Associate
|
27717396 |
| Neoplasm Invasiveness |
Associate
|
38319712 |
| Neoplasm Metastasis |
Associate
|
20926544, 25096929 |
| Neoplasm Metastasis |
Stimulate
|
24737953 |
| Neoplasms |
Associate
|
20926544, 22761399, 23533596, 24737953, 25254241, 26509963, 28324890, 28415821, 28612520, 30614803, 31296879, 34215227, 36830672, 39511266, 40234833, 7493912 View all (1 more) |
| Neoplasms |
Inhibit
|
25078904 |
| Neoplasms |
Stimulate
|
34938358 |
| Neoplasms Mesothelial |
Associate
|
24084442 |
| Nephrosis congenital |
Associate
|
22512483, 23114595, 27717396 |
| Nephrotic Syndrome |
Associate
|
23114595, 27717396, 32198874, 34492382 |
| Neuroblastoma |
Associate
|
31432180 |
| Osteosarcoma |
Associate
|
34335109 |
| Pancreatic Neoplasms |
Associate
|
29764514, 37270717 |
| Peritonitis |
Associate
|
20926544, 22808003 |
| Polycystic Ovary Syndrome |
Associate
|
39253602 |
| Prostatic Neoplasms |
Associate
|
26509963, 27509031 |
| Pulmonary Fibrosis |
Associate
|
27717396 |
| Radial Ray Deficiency X Linked |
Inhibit
|
26873628 |
| Skin Diseases |
Associate
|
27717396 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
18224668, 20497865, 24006899, 24769516, 28415821, 28612520, 33227411, 33456497 |
| Squamous Cell Carcinoma of Head and Neck |
Stimulate
|
33099569 |
| Stomach Diseases |
Associate
|
7493912 |
| Stomach Neoplasms |
Associate
|
20926544, 22808003, 23533596, 25472585 |
| Tertiary Lymphoid Structures |
Stimulate
|
24737953 |
| Thyroid Cancer Papillary |
Associate
|
30941771 |
| Thyroid Neoplasms |
Associate
|
26985959, 30941771, 34791326, 34938358 |
| Urinary Bladder Neoplasms |
Associate
|
28324890, 30614803 |
| Uterine Cervical Neoplasms |
Stimulate
|
39511266 |
|