Nicolaides baraitser syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Nicolaides Baraitser syndrome | C1303073 | ARID1B | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| CDKL5 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| SMARCA2 | Causal Pathogenic evidence from ClinVar | 22366787, 22426308, 23906836, 27665729 | ClinVar | ||
| NBN | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 3857858 | - | ||
| RS1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| Nicolaides-Baraitser syndrome | 3051 | SMARCA2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |