|
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 |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Bipolar Disorder |
Bipolar disorder |
N/A |
N/A |
GWAS |
| Breast Cancer |
Breast cancer |
N/A |
N/A |
GWAS |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes or prostate cancer (pleiotropy), Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes with renal manifestations (PheCode 250.22), Type 2 diabetes with ophthalmic manifestations (PheCode 250.23), Type 2 diabetes (PheCode 250.2), Type 2 diabetes, Prevalent type 2 diabetes, Diabetes, Type ii diabetes, Type 2 diabetes (adjusted for BMI) |
N/A |
N/A |
GWAS |
| Diabetes Mellitus |
Type 2 diabetes mellitus |
N/A |
N/A |
ClinVar |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension, Hypertension (confirmatory factor analysis Factor 12) |
N/A |
N/A |
GWAS |
| Inflammatory Bowel Disease |
Inflammatory bowel disease (MTAG), Inflammatory bowel disease |
N/A |
N/A |
GWAS |
| Melanoma |
Melanoma |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Obesity |
obesity |
N/A |
N/A |
ClinVar |
| Otitis media |
Otitis media |
N/A |
N/A |
GWAS |
| Prostate cancer |
Prostate cancer |
N/A |
N/A |
GWAS |
| Psoriasis |
Psoriasis |
N/A |
N/A |
GWAS |
| Psoriasis vulgaris |
Psoriasis vulgaris |
N/A |
N/A |
GWAS |
| Ulcerative colitis |
Ulcerative colitis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Birth Weight |
Associate
|
26168825 |
| Breast Neoplasms |
Inhibit
|
27314662 |
| Breast Neoplasms |
Associate
|
27314662, 30457165, 38217005 |
| Carcinogenesis |
Associate
|
24163127 |
| Carotid Stenosis |
Associate
|
36894991 |
| Colitis Ulcerative |
Associate
|
19068216 |
| Congenital Hyperinsulinism |
Associate
|
23869231 |
| Coronary Artery Disease |
Associate
|
22216278 |
| Crohn Disease |
Associate
|
19068216, 21152001 |
| Cystic Fibrosis |
Associate
|
23670970 |
| Depressive Disorder |
Associate
|
29280852 |
| Diabetes Gestational |
Associate
|
22096510, 22233651, 28072873, 29544538, 31098383, 31542245, 34192303, 34959770, 35360068, 36313769, 37055162, 40133860 |
| Diabetes Mellitus |
Associate
|
17463249, 18544707, 18719881, 19008344, 20929593, 25370040, 27139004, 28538172, 30457165, 30907055, 32764395, 35130687, 36894991, 37628646, 37993469 |
| Diabetes Mellitus Insulin Dependent 19 |
Associate
|
33641658 |
| Diabetes Mellitus Type 1 |
Associate
|
20460429 |
| Diabetes Mellitus Type 2 |
Associate
|
17460697, 17463248, 18426861, 18461161, 18469204, 18633108, 18694974, 18719881, 19008344, 19020324, 19033397, 19228808, 19258437, 19401414, 19592620, 19718565, 19862325, 20142250, 20161779, 20424228, 20460429, 20490451, 20509872, 21103332, 21368910, 22275441, 22292718, 22529894, 22923468, 22961080, 23202124, 23670970, 23840313, 24013783, 24062323, 24112421, 24376643, 24637646, 24695378, 24929251, 25222615, 25483131, 25524916, 25587982, 25634229, 25785549, 26168825, 26599349, 26873362, 26961502, 27139004, 27281091, 27377502, 27896934, 28040731, 28406950, 28636232, 28821857, 29280852, 30140092, 30185902, 30350806, 31639799, 32228543, 33353041, 35130687, 37234924, 37993469, 40074340 View all (54 more) |
| Diabetes Mellitus Type 2 |
Stimulate
|
27896934 |
| Diabetic Neuropathies |
Associate
|
27253191 |
| Diabetic Retinopathy |
Associate
|
28821857 |
| Fetal Growth Retardation |
Associate
|
19483473 |
| Fetal Macrosomia |
Associate
|
40133860 |
| Glucose Intolerance |
Associate
|
24062323, 30140092 |
| Glucose Metabolism Disorders |
Associate
|
26168825 |
| Hypertension Pregnancy Induced |
Associate
|
40074340 |
| Hypoglycemia |
Associate
|
18633108, 23990951 |
| Inflammatory Bowel Diseases |
Associate
|
37988718 |
| Insulin Resistance |
Associate
|
24695378, 30350806, 31542245 |
| Intracranial Arteriovenous Malformations |
Associate
|
26818729 |
| Metabolic Syndrome |
Associate
|
20847104, 26599349 |
| Neoplasms |
Associate
|
36786012 |
| Neuroendocrine Tumors |
Associate
|
37453564 |
| Obesity |
Associate
|
18469204, 22344221, 24062323, 25370040, 26727462, 26800887, 26961502, 30185902, 30350806, 32228543 |
| Overweight |
Associate
|
30185902 |
| Psoriasis |
Associate
|
26613086, 27670765 |
| Renal Insufficiency Chronic |
Associate
|
26806836 |
| Rhabdomyosarcoma |
Associate
|
36786012 |
| Urinary Bladder Neoplasms |
Associate
|
18037967, 24163127 |
|