|
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 |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Diabetes |
Type ii diabetes, Type 2 diabetes (adjusted for BMI), Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes, Type 2 diabetes with renal manifestations (PheCode 250.22), Type 2 diabetes with ophthalmic manifestations (PheCode 250.23), Type 2 diabetes (PheCode 250.2), Diabetes, Childhood onset type 2 diabetes, Body mass index and type 2 diabetes (pairwise) |
N/A |
N/A |
GWAS |
| Diabetes Mellitus |
Diabetes mellitus type 2, susceptibility to, diabetes mellitus, noninsulin-dependent |
N/A |
N/A |
ClinVar, GenCC |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
| Gout |
Gout |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Uterine Fibroids |
Uterine fibroids |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Stimulate
|
27391348 |
| Adenocarcinoma |
Associate
|
30335898 |
| Adenocarcinoma of Lung |
Associate
|
27903974, 35011587, 35343834, 37353784 |
| Alzheimer Disease |
Stimulate
|
34705667 |
| Autoimmune Diseases |
Associate
|
23421499, 25721883 |
| Breast Neoplasms |
Associate
|
25721883, 26416451, 27733218 |
| Breast Neoplasms |
Stimulate
|
40137853 |
| Carcinogenesis |
Associate
|
32784624, 38250159 |
| Carcinogenesis |
Stimulate
|
40084251 |
| Carcinoma Hepatocellular |
Associate
|
25741595, 26137588, 27391348, 36289466, 36933158, 37985379, 38287808, 38320625 |
| Carcinoma Non Small Cell Lung |
Associate
|
36257938 |
| Carcinoma Pancreatic Ductal |
Associate
|
31261900, 34061869, 35526050 |
| Carcinoma Renal Cell |
Associate
|
33628845, 34420511, 35876041, 37065178 |
| Carcinoma Squamous Cell |
Associate
|
27903974 |
| Cognitive Dysfunction |
Associate
|
38065904 |
| Colorectal Neoplasms |
Associate
|
21172019, 23421499, 32070145, 35014946, 35595748, 35773744, 36230970, 37194014, 37248468, 37986103, 38287808 |
| Colorectal Neoplasms |
Stimulate
|
27153315, 34659267 |
| Cystic Fibrosis |
Associate
|
23670970 |
| Depressive Disorder |
Associate
|
29280852 |
| Diabetes Gestational |
Associate
|
22096510, 23364967, 33953693, 34928995, 36313769 |
| Diabetes Mellitus |
Associate
|
17463249, 18544707, 19008344, 23029108, 23403707, 23670970, 24932614, 33479058 |
| Diabetes Mellitus Insulin Dependent 19 |
Associate
|
22569928 |
| Diabetes Mellitus Type 1 |
Associate
|
36457997 |
| Diabetes Mellitus Type 2 |
Associate
|
17463248, 17463249, 18426861, 18461161, 18469204, 18598350, 18633108, 18694974, 19008344, 19020324, 19033397, 19148120, 19228808, 19258437, 19401414, 19862325, 20142250, 20424228, 20509872, 20523342, 20627640, 20644627, 22569928, 22923468, 23029108, 23144361, 23403707, 23670970, 24062323, 24376643, 24929251, 25062844, 25247335, 25612568, 27310578, 29280852, 29410390, 30371117, 31123324, 32329795, 32578971, 33390804, 33479058, 36891946, 37234928 View all (30 more) |
| Diabetes Mellitus Type 2 |
Stimulate
|
33390804 |
| Diabetic Nephropathies |
Associate
|
37744330 |
| Endometrial Neoplasms |
Associate
|
34347888 |
| Esophageal Neoplasms |
Stimulate
|
27391348 |
| Esophageal Neoplasms |
Associate
|
34022433 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
27391348, 34022433, 36510377, 36522683 |
| Fetal Nutrition Disorders |
Associate
|
19258437 |
| Fibrosis |
Associate
|
37744330 |
| Glioblastoma |
Stimulate
|
25719943 |
| Glioblastoma |
Associate
|
27184842 |
| Glioma |
Associate
|
32713259, 34432221 |
| Glucose Intolerance |
Associate
|
19258437, 24062323 |
| Head and Neck Neoplasms |
Stimulate
|
38250159 |
| Hypertension |
Associate
|
23403707, 24959828 |
| Hypoglycemia |
Associate
|
18633108 |
| Inflammation |
Associate
|
27391348 |
| Insulin Resistance |
Associate
|
19148120, 23403707, 32784624, 33390804, 34872092 |
| Leukemia |
Associate
|
36306790, 36608677 |
| Leukemia Myeloid Acute |
Stimulate
|
30513526, 37060505 |
| Leukemia Myeloid Acute |
Associate
|
36306790 |
| Lung Diseases |
Associate
|
38287808 |
| Lung Neoplasms |
Stimulate
|
36257938 |
| Lymphatic Metastasis |
Associate
|
32784624, 35919812 |
| Lymphoma B Cell Marginal Zone |
Associate
|
36095303 |
| Lymphoma Large B Cell Diffuse |
Associate
|
35894142 |
| Melanoma |
Associate
|
35707044 |
| Meningioma |
Inhibit
|
37910780 |
| Metabolic Syndrome |
Associate
|
20627640, 23418049, 24959828, 34093434 |
| Mohr Tranebjaerg syndrome |
Associate
|
36354205 |
| Mouth Neoplasms |
Associate
|
32784624, 38250159 |
| Neoplasm Metastasis |
Associate
|
27391348, 35595748, 36522683, 37353784, 38250159 |
| Neoplasm Metastasis |
Stimulate
|
40084251 |
| Neoplasms |
Stimulate
|
25719943, 27391348, 38287808 |
| Neoplasms |
Associate
|
25721883, 26416451, 27184842, 29089486, 30513526, 31261900, 32784624, 33082301, 35502827, 35894142, 36322753, 36416324, 36569935, 37248468, 37353784, 37865637, 37983610 View all (2 more) |
| Neoplasms |
Inhibit
|
36281789, 39174693 |
| Neoplasms Adipose Tissue |
Associate
|
19148120, 34872092 |
| Neuroblastoma |
Associate
|
32176634 |
| Obesity |
Associate
|
18469204, 23403707, 24062323, 25062844, 25612568, 33487124, 38065904 |
| Osteosarcoma |
Associate
|
33754909, 33952279 |
| Ovarian Neoplasms |
Associate
|
24872956, 38025760 |
| Ovarian Neoplasms |
Stimulate
|
38084732 |
| Overweight |
Associate
|
24959828 |
| Pancreatic Neoplasms |
Associate
|
31261900, 33082301, 34332578, 37858219, 38330578 |
| Pancreatic Neoplasms |
Stimulate
|
33246429 |
| Polycystic Ovary Syndrome |
Associate
|
35293050 |
| Pre Eclampsia |
Associate
|
29339719 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
37820824 |
| Prostatic Neoplasms |
Associate
|
20142250, 27700103, 40084251 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
32784624, 35129592, 35689537, 35919812, 36281789, 36416324, 37615536, 38250159, 39174693 |
| Stomach Neoplasms |
Associate
|
33824282, 35502827, 37865637 |
| Tarlov Cysts |
Associate
|
40084251 |
| Tertiary Lymphoid Structures |
Associate
|
30335898 |
| Thyroid Neoplasms |
Associate
|
37726690 |
| Triple Negative Breast Neoplasms |
Associate
|
37983610, 40137853 |
| Urinary Bladder Neoplasms |
Associate
|
35894701, 36569935 |
| Uterine Cervical Neoplasms |
Associate
|
36354205 |
| Uveal melanoma |
Associate
|
36003405 |
|