|
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 |
| Aniridia |
Congenital aniridia |
N/A |
N/A |
ClinVar |
| Anxiety Disorder |
Anxiety |
N/A |
N/A |
GWAS |
| Asthma |
Asthma |
N/A |
N/A |
GWAS |
| Biliary Atresia |
Biliary atresia |
N/A |
N/A |
GWAS |
| Breast Cancer |
Breast cancer specific mortality in breast cancer |
N/A |
N/A |
GWAS |
| Colorectal Cancer |
Colorectal cancer |
N/A |
N/A |
GWAS |
| Dementia |
Dementia |
N/A |
N/A |
GWAS |
| Dental caries |
Dental caries |
N/A |
N/A |
GWAS |
| Diabetes |
Circulating leptin levels or type 2 diabetes, Type 2 diabetes, Type 2 diabetes (PheCode 250.2) |
N/A |
N/A |
GWAS |
| Diabetes |
Type 1 diabetes |
N/A |
N/A |
GWAS |
| Heart Failure |
Heart failure |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Monogenic Diabetes |
monogenic diabetes |
N/A |
N/A |
ClinVar |
| Neuroticism |
Neuroticism |
N/A |
N/A |
GWAS |
| Oligodendroglioma |
Oligodendroglioma |
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 |
| Adenoma |
Associate
|
30648929, 31273314 |
| Anemia |
Associate
|
33935973 |
| Anorchia |
Associate
|
28253873 |
| Body Dysmorphic Disorders |
Associate
|
28253873 |
| Bone Diseases Metabolic |
Associate
|
28253873 |
| Chemical and Drug Induced Liver Injury |
Associate
|
26259131 |
| Choanal Atresia |
Associate
|
26259131, 28253873 |
| Cholestasis |
Associate
|
33935973 |
| Cone Rod Dystrophies |
Associate
|
16909397 |
| Congenital Hypothyroidism |
Associate
|
27148679, 28253873, 33935973, 34093443, 34200080 |
| Craniosynostoses |
Associate
|
26259131, 28253873 |
| Cryptorchidism |
Associate
|
28253873 |
| Cysts |
Associate
|
26259131 |
| Developmental Disabilities |
Associate
|
34093443 |
| Diabetes Gestational |
Associate
|
29947923, 36313769 |
| Diabetes Mellitus |
Associate
|
22662265, 26839896, 28253873, 28520980, 29246973, 29436472, 31415576, 33376132, 34093443, 35246208, 37897565 |
| Diabetes Mellitus Neonatal with Congenital Hypothyroidism |
Associate
|
33935973 |
| Diabetes Mellitus Transient Neonatal 1 |
Associate
|
26259131, 27148679, 28253873, 33935973, 37897565 |
| Diabetes Mellitus Type 1 |
Associate
|
19430480, 26053495, 28520980, 31455420, 31558544 |
| Diabetes Mellitus Type 2 |
Associate
|
21103350, 21747906, 21949744, 22662265, 22961080, 24086726, 24953961, 26053495, 29606121, 31123324, 31145772, 31415576, 33830302, 35246208 |
| Ear Diseases |
Associate
|
27148679 |
| Exocrine Pancreatic Insufficiency |
Associate
|
26259131, 28253873, 33935973 |
| Facial Dysmorphism with Multiple Malformations |
Associate
|
27148679, 28253873 |
| Fibrosis |
Associate
|
26259131 |
| Glaucoma |
Associate
|
27148679 |
| Glaucoma 3 Primary Congenital A |
Associate
|
28253873, 34093443 |
| Glaucoma Angle Closure |
Associate
|
30399154 |
| Glioblastoma |
Associate
|
36114444 |
| Glioma |
Associate
|
20838435 |
| Hearing Loss Sensorineural |
Associate
|
26259131, 28253873 |
| Heart Septal Defects Atrial |
Associate
|
26259131 |
| Hernia Hiatal |
Associate
|
26259131 |
| Hypoglycemia |
Associate
|
21747906 |
| Hypomagnesemia 5 Renal with Ocular Involvement |
Associate
|
27148679 |
| Hypospadias |
Associate
|
28253873 |
| Hypothyroidism Congenital Nongoitrous 1 |
Associate
|
33935973 |
| Islet cell tumor syndrome |
Associate
|
31123324 |
| Kidney Diseases |
Associate
|
26259131, 27148679 |
| Kidney Diseases Cystic |
Associate
|
34093443 |
| Liver Cirrhosis |
Associate
|
28253873 |
| Liver Diseases |
Associate
|
28253873 |
| Liver Failure |
Associate
|
26259131 |
| Mason Type Diabetes |
Associate
|
29606121 |
| Megalocornea |
Associate
|
33935973 |
| Metabolic Syndrome |
Associate
|
37816730 |
| Myocardial Bridging |
Associate
|
27148679 |
| Neoplasms |
Associate
|
25122662, 34282807 |
| Neoplasms |
Stimulate
|
36724950 |
| Obesity |
Stimulate
|
35246208 |
| Osteoarthritis |
Associate
|
29436472 |
| Polycystic Kidney Diseases |
Associate
|
28253873 |
| Post Acute COVID 19 Syndrome |
Associate
|
27148679 |
| Renal dysplasia diffuse cystic |
Associate
|
26259131 |
| Skin Manifestations |
Associate
|
26259131 |
| Thyroid Diseases |
Associate
|
26259131 |
| Thyroid Neoplasms |
Associate
|
34282807 |
| Triple Negative Breast Neoplasms |
Associate
|
36724950 |
|