Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:CHARGE_syndrome
|
| gptkbp:discoveredIn |
2004
|
| gptkbp:Entrez_Gene_ID |
55636
|
| gptkbp:expressedIn |
various tissues
|
| gptkbp:fullName |
Chromodomain Helicase DNA Binding Protein 7
|
| gptkbp:function |
chromatin remodeling
|
| gptkbp:HGNC_ID |
20457
|
| https://www.w3.org/2000/01/rdf-schema#label |
CHD-7
|
| gptkbp:locatedOn |
chromosome 8
|
| gptkbp:mutationAssociatedWith |
developmental disorders
loss-of-function |
| gptkbp:OMIM |
608892
|
| gptkbp:orthologInMouse |
gptkb:Chd7
|
| gptkbp:product |
gptkb:CHD7_protein
|
| gptkbp:UniProtID |
gptkb:Q9P2D1
|
| gptkbp:bfsParent |
gptkb:CHD7
|
| gptkbp:bfsLayer |
7
|