|
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 |
| Meniere disease |
Pathogenic |
rs690016537 |
RCV000149519 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
|
| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| ANDROGENETIC ALOPECIA |
— |
GWAS catalog
|
30573740 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CENTRAL NERVOUS SYSTEM CANCER |
— |
GWAS catalog
|
36810956 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| FAM136A-related disorder |
Uncertain significance; Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLIOBLASTOMA MULTIFORME |
— |
GWAS catalog
|
36810956 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLIOMA |
— |
GWAS catalog
|
36810956 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
|
| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Meniere Disease |
Meniere Disease |
GENOMICS_ENGLAND_DG |
25305078 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Myasthenia Gravis |
Myasthenia Gravis |
BEFREE |
30696470 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myasthenia Gravis |
Myasthenia gravis |
Pubtator |
30696470 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ophthalmoplegia |
Ophthalmoplegia |
Pubtator |
30696470 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
28559012 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
|