Angelman syndrome critical region
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genomic_region
|
| gptkbp:associatedWith |
gptkb:Angelman_syndrome
|
| gptkbp:containsGene |
gptkb:GABRA5
gptkb:GABRG3 gptkb:SNRPN gptkb:GABRB3 gptkb:UBE3A gptkb:ATP10A |
| gptkbp:deletionLeadsTo |
gptkb:Angelman_syndrome
Prader-Willi syndrome (if paternal) |
| gptkbp:genomicDisorderRegion |
gptkb:Prader-Willi/Angelman_region
|
| gptkbp:imprintingStatus |
imprinted
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_15
gptkb:15q11-q13 |
| gptkbp:OMIM |
105830
|
| gptkbp:bfsParent |
gptkb:15q11-q13
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
Angelman syndrome critical region
|