|
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 |
| Breast Cancer |
Breast cancer |
N/A |
N/A |
GWAS |
| Cervical Cancer |
Cervical cancer |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes (adjusted for BMI) or polycystic ovary syndrome (pleiotropy), Type 2 diabetes (PheCode 250.2), Type 2 diabetes or schizophrenia (pleiotropy), Type 2 diabetes, Type 2 diabetes (adjusted for BMI) |
N/A |
N/A |
GWAS |
| Heart Failure |
Heart failure |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Myocardial Infarction |
Myocardial infarction |
N/A |
N/A |
GWAS |
| Obesity |
Obesity |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acromegaly |
Associate
|
36497102 |
| Acth Independent Macronodular Adrenal Hyperplasia |
Associate
|
28931750 |
| ACTH Syndrome Ectopic |
Associate
|
32267363 |
| Adenoma |
Associate
|
28931750, 34334589 |
| Adrenal Cortex Neoplasms |
Associate
|
28931750 |
| Adrenal Gland Diseases |
Associate
|
28931750 |
| Adrenal Gland Neoplasms |
Associate
|
34906447 |
| Adrenocortical Adenoma |
Associate
|
28931750, 37062723 |
| Adrenocortical Carcinoma |
Associate
|
25334044 |
| Bone Diseases |
Associate
|
33852173 |
| Cardiovascular Diseases |
Associate
|
34426508 |
| Cognitive Dysfunction |
Associate
|
36882778 |
| Coronary Artery Disease |
Associate
|
34426508 |
| Cushing Syndrome |
Associate
|
25334044, 28931750, 37062723 |
| Diabetes Mellitus |
Associate
|
30910378 |
| Diabetes Mellitus Type 2 |
Associate
|
20081857, 21103350, 21810601, 22237064, 24086540, 31123324, 31330984, 34426508, 34446852, 34505161, 36140702, 36774542, 36882778, 38091482 |
| Embolism Fat |
Associate
|
25324507 |
| Growth Hormone Secreting Pituitary Adenoma |
Associate
|
37298217 |
| Hemochromatosis |
Associate
|
37298217 |
| Hyperglycemia |
Associate
|
20185807 |
| Hyperinsulinism |
Associate
|
20185807 |
| Hyperplasia |
Associate
|
28931750 |
| Insulin Resistance |
Associate
|
22237064, 24512489, 30089489 |
| MASS syndrome |
Associate
|
36140702 |
| Metabolic Diseases |
Associate
|
36140702 |
| Metabolic Syndrome |
Associate
|
36140702 |
| Neointima |
Associate
|
39769358 |
| Neoplasms |
Associate
|
24238043, 36497102 |
| Neoplasms Adipose Tissue |
Associate
|
34426508 |
| Neuroendocrine Tumors |
Associate
|
24238043, 24565507 |
| Obesity |
Associate
|
19254363, 22237064, 22513296, 24512489, 25324507, 26727462, 27421018, 29220676, 34426508, 34836030, 36774542, 38091482 |
| Obesity Abdominal |
Associate
|
25324507 |
| Overnutrition |
Associate
|
22237064 |
| Overweight |
Associate
|
22237064 |
| Pancreatic Neoplasms |
Associate
|
34446852, 37547756 |
| Pituitary ACTH Hypersecretion |
Associate
|
34906447 |
| Pituitary Neoplasms |
Associate
|
37298217 |
| Weight Gain |
Associate
|
36774542 |
| Weight Loss |
Associate
|
22237064 |
|