※ PTMD 2.0 database Online Browse Options
Browse result for NESCAV syndrome
※ introduction An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3.
Reference
DiseaseOntology: NESCAV syndrome
Reference
DiseaseOntology: NESCAV syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD01732 | Q12756 | 547 | KIF1A | Kinesin-like protein KIF1A | Homo sapiens |