|
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 |
| Intellectual disability |
Likely pathogenic |
rs1866090527 |
RCV002287618 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
|
| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| Gastric cancer |
Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PARKINSON DISEASE |
— |
GWAS catalog
|
23793441 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Syndromic intellectual disability |
Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
|
| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Parkinson Disease |
Parkinson disease |
GWASCAT_DG |
23793441 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Parkinson Disease |
Parkinson disease |
GWASDB_DG |
23793441 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
|