|
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, Childhood onset type 2 diabetes, Type 2 diabetes with ketoacidosis (PheCode 250.21) |
N/A |
N/A |
GWAS |
| Inflammatory Bowel Disease |
Inflammatory bowel disease |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| 22q11 Deletion Syndrome |
Associate
|
18684837 |
| Adenocarcinoma of Lung |
Associate
|
33655701 |
| Amyotrophic Lateral Sclerosis |
Associate
|
21280084, 33653604, 38383499 |
| Amyotrophic Lateral Sclerosis |
Stimulate
|
30068350 |
| Arthritis Juvenile |
Stimulate
|
27706807 |
| Arthritis Rheumatoid |
Associate
|
19703019, 20345981, 22067224 |
| Atrial Fibrillation |
Associate
|
33741890 |
| Autoimmune Diseases |
Associate
|
32375827, 34830279 |
| Bipolar Disorder |
Associate
|
22253875 |
| Breast Neoplasms |
Associate
|
18632860, 22031938, 23873154, 24964007, 25112280, 25951175, 31455323 |
| Calcinosis Cutis |
Stimulate
|
23873154 |
| Carcinogenesis |
Associate
|
32669437, 33202765, 34145313 |
| Carcinoma Hepatocellular |
Associate
|
28070518, 31215439 |
| Carcinoma Pancreatic Ductal |
Associate
|
40399501 |
| Carcinoma Squamous Cell |
Associate
|
26577853 |
| Colorectal Neoplasms |
Associate
|
31911241, 32752259, 33401247 |
| Diabetes Mellitus Type 2 |
Associate
|
34391409 |
| Glioblastoma |
Stimulate
|
37395278 |
| HIV Infections |
Associate
|
17067267, 22031938, 22205657, 24472118, 25024383, 25746218, 28830571 |
| Idiopathic Pulmonary Fibrosis |
Inhibit
|
21309737 |
| Lymphoma |
Associate
|
18632860 |
| Lymphoma |
Stimulate
|
22067224 |
| Melanoma |
Stimulate
|
22067224 |
| Melanoma |
Associate
|
23338945, 33202765, 35867400 |
| Mitochondrial Diseases |
Stimulate
|
38383499 |
| Multiple Sclerosis |
Associate
|
18684837 |
| Neoplasms |
Associate
|
18632860, 18664271, 22031938, 22531918, 25112280, 25746218, 28070518, 29046454, 31455323, 31911241, 32161592, 32375827, 32752259, 33202765, 33655701, 34830279, 35867400, 37395278 View all (3 more) |
| Neoplasms |
Stimulate
|
22067224, 23873154, 7692084 |
| Neoplasms Germ Cell and Embryonal |
Associate
|
15613316, 18664271, 18684837 |
| Neurodegenerative Diseases |
Associate
|
30068350, 32669437, 38383499 |
| Neurodegenerative Diseases |
Stimulate
|
33951478 |
| Neurotoxicity Syndromes |
Associate
|
33951478, 35867400 |
| Neurotoxicity Syndromes |
Stimulate
|
38383499 |
| Obesity |
Associate
|
34391409 |
| Ovarian Neoplasms |
Associate
|
35867400 |
| Pancreatic Neoplasms |
Associate
|
40399501 |
| Parkinsonian Disorders |
Associate
|
35887121 |
| Sarcoidosis |
Associate
|
21356378 |
| Schizophrenia |
Associate
|
22067224 |
| Teratocarcinoma |
Associate
|
25746218, 34830279 |
| Tn Syndrome |
Associate
|
30504228 |
| Typical Teratoid Rhabdoid Tumor |
Associate
|
34145313 |
|