|
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 |
| Childhood-onset schizophrenia |
Likely pathogenic |
rs863223351 |
RCV000202325 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
|
| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| ASTHMA |
— |
GWAS catalog
|
31669095 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHILDHOOD ONSET ASTHMA |
— |
GWAS catalog
|
31669095 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| High myopia |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MOYAMOYA DISEASE |
— |
GWAS catalog
|
37365321 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCHIZOPHRENIA, CHILDHOOD |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SEVERE MYOPIA |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
|
| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
27506935 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
27506935, 31182966 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Failure |
Heart failure |
Pubtator |
25725476 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
27506935 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia, Childhood |
Schizophrenia |
CLINVAR_DG |
26508570 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
|