Pitt-hopkins-like syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Pitt-Hopkins-like syndrome | 221150 | NRXN1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| CNTNAP2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| PITT-HOPKINS-LIKE SYNDROME 2 | C3280479 | NRXN1 | Causal Pathogenic evidence from ClinVar | 19896112, 21964664, 22617343, 25149956 | ClinVar |
| Pitt-Hopkins-Like Syndrome 1 | C2750246 | CNTNAP2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 11568923, 16571880, 21827697 | - |