|
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 |
| autism |
Autism |
N/A |
N/A |
ClinVar |
| Autism |
autism |
N/A |
N/A |
GenCC |
| Breast Cancer |
Breast cancer specific mortality in breast cancer, Breast cancer |
N/A |
N/A |
GWAS |
| Colorectal Cancer |
Colorectal cancer |
N/A |
N/A |
GWAS |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes, Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes with ophthalmic manifestations (PheCode 250.23), Type 2 diabetes (PheCode 250.2) |
N/A |
N/A |
GWAS |
| Heart Failure |
Heart failure |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension (confirmatory factor analysis Factor 12) |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Obesity |
Obesity |
N/A |
N/A |
GWAS |
| Oligodendroglioma |
Oligodendroglioma |
N/A |
N/A |
GWAS |
| Prostate cancer |
Prostate cancer |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
23301059 |
| Alzheimer Disease |
Associate
|
30902061 |
| Autism Spectrum Disorder |
Associate
|
22209245, 22543975, 30559312, 37372397 |
| Autistic Disorder |
Associate
|
21647150, 22209245, 30076746, 30902061, 37372397 |
| Borderline Personality Disorder |
Associate
|
23245376 |
| Brain Diseases |
Associate
|
24265751 |
| Breast Neoplasms |
Associate
|
21688152 |
| Carbon Monoxide Poisoning |
Associate
|
24265751 |
| Carcinogenesis |
Associate
|
21688152, 23301059 |
| Carcinoma Hepatocellular |
Associate
|
22997493 |
| Carcinoma Non Small Cell Lung |
Associate
|
22872573 |
| Central Nervous System Diseases |
Associate
|
19557197 |
| Chromosomal Instability |
Associate
|
23245376 |
| Congenital Abnormalities |
Associate
|
18978678 |
| Depressive Disorder Major |
Inhibit
|
32398672 |
| Developmental Disabilities |
Associate
|
30559312, 37372397 |
| Facial Dysmorphism with Multiple Malformations |
Associate
|
30076746 |
| Glioblastoma |
Associate
|
35429411 |
| Graves Disease |
Associate
|
23118423 |
| Hirschsprung Disease |
Associate
|
29622757 |
| Hypertension |
Associate
|
25189868 |
| Leukemia Myeloid Acute |
Associate
|
30558617 |
| Leukemic Infiltration |
Associate
|
30558617 |
| Mental Disorders |
Associate
|
30076746, 30976086 |
| Nasopharyngeal Carcinoma |
Associate
|
33038291 |
| Nerve Degeneration |
Associate
|
30902061 |
| Obesity |
Associate
|
19557197, 21552555, 21674055, 21688152, 21779088, 23349760, 23408508, 27771443 |
| Pancreatic Neoplasms |
Associate
|
38049855 |
| Philadelphia Chromosome |
Associate
|
37819686 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
37819686 |
| Schizophrenia |
Associate
|
30076746, 30902061 |
| Substance Related Disorders |
Associate
|
19557197, 30902061, 34647286, 34750790 |
| Tobacco Use Disorder |
Associate
|
34647286, 34750790 |
| Voice Disorders |
Associate
|
23245376 |
|