Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
BHC80
PHD finger protein 21A |
| gptkbp:associatedWith |
Potocki-Shaffer syndrome
|
| gptkbp:domain |
PHD finger domain
|
| gptkbp:encodes |
PHD finger protein 21A
|
| gptkbp:Entrez_Gene_ID |
51317
ENSG00000149218 |
| gptkbp:expressedIn |
brain
|
| gptkbp:function |
transcriptional regulation
|
| https://www.w3.org/2000/01/rdf-schema#label |
PHF21A
|
| gptkbp:involvedIn |
chromatin remodeling
|
| gptkbp:locatedOnChromosome |
gptkb:11p11.2
|
| gptkbp:mutationAssociatedWith |
intellectual disability
craniofacial abnormalities |
| gptkbp:OMIM |
607520
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Phf21a
|
| gptkbp:UniProtID |
Q96BD5
|
| gptkbp:bfsParent |
gptkb:SIN3A
gptkb:11p11.2 gptkb:chromosome_11p11.2 |
| gptkbp:bfsLayer |
8
|