Pitt-hopkins syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Pitt-Hopkins syndrome | 2896 | TCF4 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| PITT-HOPKINS SYNDROME | C1970431 | TCF4 | Causal Pathogenic evidence from ClinVar | 17436254, 17436255, 17478476, 17878293, 18728071, 19235238, 20184619, 21671391, 22045651, 22460224, 22777675, 24077912, 24896178, 25356899, 26633545, 26993267, 27568567, 28631899, 28807867, 29222403, 30450687 | ClinVar |
| CNTNAP2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 19896112 | - | ||
| NRXN1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 19896112 | - |