|
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 |
dbSNP ID |
RCV Accession |
Evidence Score |
| Pancreatic agenesis 2 |
Pathogenic |
rs2492731216 |
RCV003126284 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
|
| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| SCHIZOPHRENIA |
— |
GWAS catalog
|
35396580 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SYSTEMIC LUPUS ERYTHEMATOSUS |
— |
GWAS catalog
|
19838195 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TYPE 2 DIABETES MELLITUS |
— |
GWAS catalog
|
32499647, 34594039, 38374256 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
|
| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Endometrial Stromal Sarcoma |
Endometrial Stromal Sarcoma |
BEFREE |
23959973 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of brain |
Brain Neoplasms |
BEFREE |
23959973 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoidosis |
Sarcoidosis |
BEFREE |
22972473 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoidosis |
Sarcoidosis |
Pubtator |
22972473 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
|