|
Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
|
| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| ALZHEIMER DISEASE |
— |
GWAS catalog
|
40708016 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEMENTIA |
— |
GWAS catalog
|
40708016 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EBV-positive nodal T- and NK-cell lymphoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPERTENSION |
— |
GWAS catalog
|
34616010 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| METABOLIC SYNDROME |
— |
GWAS catalog
|
39349817 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TYPE 2 DIABETES MELLITUS |
— |
GWAS catalog
|
39349817 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
|
| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
12023020 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
35800238 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsies Partial |
Partial epilepsy |
Pubtator |
20863412 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsies, Partial |
Epilepsy |
BEFREE |
20863412, 21829378 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
20863412, 21829378, 22037590, 26032921 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
20863412 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
|