|
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 |
| Acetyl-CoA Carboxylase Deficiency |
acetyl-coa: carboxylase deficiency |
N/A |
N/A |
ClinVar |
| Celiac disease |
Celiac disease |
N/A |
N/A |
GWAS |
| Erectile Dysfunction |
Erectile dysfunction |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| 46 Xy Gonadal Dysgenesis Partial With Minifascicular Neuropathy |
Stimulate
|
28125642 |
| Alzheimer Disease |
Associate
|
22982105 |
| Breast Neoplasms |
Associate
|
17157792, 17631500, 18056116, 26632252, 27506935 |
| Carcinogenesis |
Associate
|
35449157 |
| Carcinoma Adenoid Cystic |
Associate
|
35032368 |
| Carcinoma Hepatocellular |
Associate
|
25735330, 25826294, 30841449, 34311471, 34981667, 35449157, 36456877, 40389832 |
| Carcinoma Pancreatic Ductal |
Associate
|
23159620 |
| Carcinoma Renal Cell |
Associate
|
28984208 |
| Cataract |
Associate
|
37511188 |
| Central Nervous System Diseases |
Associate
|
35633176 |
| Cholangiocarcinoma |
Associate
|
36972768 |
| Colorectal Neoplasms |
Associate
|
30809968, 35067161, 36328987 |
| Death |
Associate
|
25826294 |
| Diabetes Gestational |
Associate
|
28125642 |
| Diabetes Mellitus Type 2 |
Associate
|
19390150, 21172433 |
| Diabetes Mellitus Type 2 |
Inhibit
|
19543203 |
| Diabetic Nephropathies |
Associate
|
31573977 |
| Ectodermal Dysplasia |
Associate
|
32070410 |
| Fatty Liver |
Associate
|
24603540, 25474087, 36251517, 37002924 |
| Fibrosis |
Associate
|
36251517 |
| Gerstmann Syndrome |
Associate
|
25227797, 25735330, 25826294, 35162967 |
| Glioma |
Associate
|
34573317 |
| Head and Neck Neoplasms |
Associate
|
33274210 |
| Hypercholesterolemia |
Associate
|
19846279 |
| Hypertriglyceridemia |
Associate
|
19846279 |
| Hypoxia |
Associate
|
26452058 |
| Inflammation |
Inhibit
|
26718495 |
| Insulin Resistance |
Associate
|
19390150 |
| Leukemia Myeloid Acute |
Associate
|
36355448 |
| Leukopenia |
Associate
|
31692082 |
| Lung Neoplasms |
Associate
|
38066059, 38069382 |
| Mitochondrial Diseases |
Associate
|
36410440 |
| Neoplasm Metastasis |
Associate
|
26632252 |
| Neoplasms |
Associate
|
21184748, 25246709, 26452058, 28546520, 30372889, 35247885, 36355448 |
| Neurodegenerative Diseases |
Associate
|
35633176 |
| Non alcoholic Fatty Liver Disease |
Associate
|
36771140, 37002924 |
| Obesity |
Inhibit
|
19543203, 26694359, 36371454 |
| Obesity |
Associate
|
21184748 |
| Prostatic Neoplasms |
Associate
|
32258129, 36410440, 37845385, 38049827 |
| Prostatic Neoplasms Castration Resistant |
Associate
|
36410440 |
| Renal Insufficiency Chronic |
Associate
|
31257514, 31692082 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
24769813 |
| Stomach Neoplasms |
Inhibit
|
26520441 |
| Thalassemia |
Associate
|
36861191 |
| Thrombocytopenia |
Associate
|
31692082 |
| Tuberculosis |
Associate
|
31692082 |
| Urinary Bladder Neoplasms |
Associate
|
34418989 |
|