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HGNC:5233
URI:
https://gptkb.org/entity/HGNC:5233
GPTKB entity
Statements (58)
Predicate
Object
gptkbp:instanceOf
gptkb:gene
gptkbp:alias
gptkb:SBB2
gptkb:FBN
gptkb:MFS1
ECTOL1
FBN1A
FBN1B
FBN1C
FBN1D
FBN1E
FBN1F
FBN1G
FBN1H
FBN1I
FBN1J
FBN1K
FBN1L
FBN1M
FBN1N
FBN1O
FBN1P
FBN1Q
FBN1R
FBN1S
FBN1T
FBN1U
FBN1V
FBN1W
FBN1X
FBN1Y
FBN1Z
gptkbp:approvedBy
gptkb:fibrillin_1
gptkbp:approvedSymbol
gptkb:FBN1
gptkbp:associatedWith
gptkb:Ectopia_lentis
gptkb:Marfan_syndrome
gptkb:Shprintzen-Goldberg_syndrome
Acromicric dysplasia
Weill-Marchesani syndrome 2
Geleophysic dysplasia 2
gptkbp:Entrez_Gene_ID
gptkb:ENSG00000166147
2200
gptkbp:geneProduct
gptkb:fibrillin-1
gptkbp:HGNC_ID
5233
https://www.w3.org/2000/01/rdf-schema#label
HGNC:5233
gptkbp:locatedOnChromosome
15
15q21.1
gptkbp:location
15q21.1
gptkbp:locusType
gptkb:gene
gene with protein product
gptkbp:OMIM
134797
gptkbp:previousName
fibrillin
gptkbp:previousSymbols
gptkb:SBB2
gptkbp:proteinFamily
gptkb:fibrillin_family
gptkbp:RefSeq
NM_000138
gptkbp:species
gptkb:Homo_sapiens
gptkbp:UniProtID
gptkb:P35555
gptkbp:bfsParent
gptkb:HSPA1B
gptkbp:bfsLayer
8