Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:SBB2
gptkb:FBN gptkb:FBN1_HUMAN gptkb:MFS1 ECTOLIN |
| gptkbp:approvalYear |
1989-12-05
|
| gptkbp:approvedBy |
gptkb:fibrillin_1
|
| gptkbp:approvedSymbol |
gptkb:FBN1
|
| gptkbp:associatedWith |
gptkb:Weill-Marchesani_syndrome
gptkb:Marfan_syndrome Acromicric dysplasia Geleophysic dysplasia Stiff skin syndrome |
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000166147
2200 |
| gptkbp:HGNC_ID |
gptkb:HGNC:5244
|
| gptkbp:locatedOnChromosome |
15
|
| gptkbp:location |
15q21.1
|
| gptkbp:locusType |
gptkb:gene
gene with protein product |
| gptkbp:OMIM |
134797
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:proteinFamily |
gptkb:fibrillin_family
|
| gptkbp:RefSeq |
NM_000138
|
| gptkbp:symbol |
approved
|
| gptkbp:UniProtID |
gptkb:P35555
|
| gptkbp:bfsParent |
gptkb:HSP90AB1
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
HGNC:5244
|