Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
chromosomal band
|
| gptkbp:associatedWith |
gptkb:autism_spectrum_disorder
gptkb:16p11.2_deletion_syndrome gptkb:16p11.2_duplication_syndrome schizophrenia obesity intellectual disability developmental delay |
| gptkbp:containsGene |
gptkb:MAPK3
gptkb:ALDOA gptkb:DOC2A gptkb:KCTD13 gptkb:SEZ6L2 gptkb:SH2B1 gptkb:TAOK2 gptkb:TBX6 |
| gptkbp:genomicCoordinates |
chr16:29,550,000-30,100,000 (hg19)
|
| gptkbp:hasCopyNumberVariation |
deletion
duplication |
| https://www.w3.org/2000/01/rdf-schema#label |
16p11.2
|
| gptkbp:locatedOn |
gptkb:chromosome_16
|
| gptkbp:locatedOnChromosome |
gptkb:16p11.2
|
| gptkbp:OMIM |
611913
|
| gptkbp:significance |
pathogenic
|
| gptkbp:bfsParent |
gptkb:FUS
|
| gptkbp:bfsLayer |
5
|