Angelman syndrome critical region
GPTKB entity
Statements (18)
Predicate | Object |
---|---|
gptkbp:instanceOf |
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
|
https://www.w3.org/2000/01/rdf-schema#label |
Angelman syndrome critical region
|
gptkbp:imprintingStatus |
imprinted
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_15
gptkb:15q11-q13 |
gptkbp:OMIM |
105830
|
gptkbp:bfsParent |
gptkb:15q11-q13
|
gptkbp:bfsLayer |
7
|