|
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 |
| Hypobetalipoproteinemia |
familial hypobetalipoproteinemia 2 |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Abetalipoproteinemia |
Associate
|
27179706 |
| Adenocarcinoma of Lung |
Inhibit
|
22048948 |
| Anorexia Nervosa |
Associate
|
29695708 |
| Atherosclerosis |
Associate
|
29618844, 33580780, 33887960, 37626170 |
| Atherosclerosis |
Inhibit
|
34865644, 38243829 |
| Atrophy |
Associate
|
35755170 |
| Breast Neoplasms |
Associate
|
31642813 |
| Bronchopulmonary Dysplasia |
Associate
|
35595912 |
| Carcinoma Hepatocellular |
Associate
|
32443377 |
| Carcinoma Renal Cell |
Associate
|
34484467, 37919459 |
| Carcinoma Renal Cell |
Inhibit
|
37375208 |
| Cardiovascular Diseases |
Inhibit
|
24058201 |
| Cardiovascular Diseases |
Associate
|
30683883 |
| Cerebral Infarction |
Associate
|
29454388, 38243829 |
| Colorectal Neoplasms |
Associate
|
38127052 |
| Coronary Artery Disease |
Associate
|
26800306, 29454388, 29713054, 36416040, 38243829 |
| Coronary Artery Disease |
Stimulate
|
32440963 |
| Coronary Disease |
Associate
|
21804106 |
| Coronary Occlusion |
Associate
|
36416040 |
| Diabetes Gestational |
Inhibit
|
32494035 |
| Diabetes Mellitus |
Inhibit
|
24058201, 35932065 |
| Diabetes Mellitus |
Associate
|
30683883 |
| Diabetes Mellitus Type 2 |
Stimulate
|
27733177 |
| Disease |
Associate
|
33772079 |
| Dyslipidemias |
Associate
|
22896670 |
| Fetal Macrosomia |
Inhibit
|
32494035 |
| Fibrosis |
Inhibit
|
32582222, 34360721 |
| Hepatitis C |
Associate
|
34360721 |
| Hypercholesterolemia |
Associate
|
34067751 |
| Hyperlipidemia Familial Combined |
Associate
|
33772079 |
| Hyperlipidemias |
Associate
|
27040449 |
| Hyperlipoproteinemia Type II |
Associate
|
33242792, 33691480, 38385290 |
| Hyperlipoproteinemia Type IV |
Stimulate
|
33588820 |
| Hyperlipoproteinemia Type V |
Associate
|
19656773 |
| Hyperlipoproteinemias |
Associate
|
19656773 |
| Hypertension |
Associate
|
29454388, 29989339 |
| Hypertriglyceridemia |
Associate
|
33588820 |
| Hypobetalipoproteinemia Familial 2 |
Associate
|
20942659, 22659251, 24058201, 27040449, 28633452, 33772079 |
| Hypobetalipoproteinemias |
Associate
|
21502677, 27179706 |
| Hypothyroidism |
Associate
|
38385290 |
| Infant Premature Diseases |
Associate
|
35595912 |
| Infections |
Inhibit
|
34360721 |
| Inflammation |
Inhibit
|
32582222 |
| Inflammation |
Associate
|
33351885 |
| Insulin Resistance |
Associate
|
34067751 |
| Klippel Trenaunay Weber Syndrome |
Associate
|
36416040 |
| Leukemia Myeloid Acute |
Associate
|
39300580 |
| Lipid Metabolism Disorders |
Associate
|
32440963 |
| Lipodystrophy Familial Partial |
Associate
|
34865644 |
| Metabolic Syndrome |
Associate
|
29695708, 38243829 |
| Mouth Neoplasms |
Associate
|
36580015 |
| Neoplasm Metastasis |
Inhibit
|
34484467 |
| Neoplasms |
Associate
|
31642813, 34484467, 34685578, 35038961, 36580015 |
| Neoplasms |
Inhibit
|
37375208 |
| Obesity |
Associate
|
25244256, 27733177, 35052431 |
| Obesity |
Inhibit
|
32494035 |
| Ovarian Neoplasms |
Associate
|
26260910 |
| Pre Eclampsia |
Associate
|
36088594 |
| Prostatic Neoplasms |
Associate
|
30361641 |
| Sarcoma |
Associate
|
37375208 |
| Sleep Apnea Obstructive |
Stimulate
|
32440963 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
36580015 |
| Stomach Neoplasms |
Inhibit
|
32410376, 38127052 |
| Stomach Neoplasms |
Associate
|
37290894 |
| Tangier Disease |
Associate
|
28330813 |
| Uterine Cervical Neoplasms |
Associate
|
35038961 |
| Vascular Remodeling |
Inhibit
|
32582222 |
|