Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:SBB2
gptkb:ectodermal_dysplasia,_acromelic gptkb:FBN |
| gptkbp:approvedBy |
gptkb:fibrillin_1
|
| gptkbp:approvedSymbol |
gptkb:FBN1
|
| gptkbp:associatedWith |
gptkb:Weill-Marchesani_syndrome
gptkb:Marfan_syndrome Acromicric dysplasia Geleophysic dysplasia |
| gptkbp:endPoint |
48935747
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000166147
2200 |
| gptkbp:HGNC_ID |
gptkb:HGNC:5232
|
| gptkbp:locatedOnChromosome |
15
|
| gptkbp:locusType |
gene with protein product
15q21.1 |
| gptkbp:OMIM |
134797
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:proteinFamily |
gptkb:fibrillins
|
| gptkbp:RefSeq |
NM_000138
|
| gptkbp:startPoint |
48778194
|
| gptkbp:status |
approved
|
| gptkbp:UniProtID |
gptkb:P35555
|
| gptkbp:bfsParent |
gptkb:HSPA1A
gptkb:HSPA1A_gene |
| gptkbp:bfsLayer |
8
|
| http://www.w3.org/2000/01/rdf-schema#label |
HGNC:5232
|