Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
KDSR gene
|
| gptkbp:associatedWith |
gptkb:autosomal_recessive_congenital_ichthyosis
thrombocytopenia |
| gptkbp:encodes |
gptkb:3-ketodihydrosphingosine_reductase
|
| gptkbp:Entrez_Gene_ID |
11010
|
| gptkbp:expressedIn |
various tissues
|
| gptkbp:HGNC_ID |
28912
|
| https://www.w3.org/2000/01/rdf-schema#label |
FVT1 gene
|
| gptkbp:involvedIn |
sphingolipid biosynthesis
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_18
|
| gptkbp:OMIM |
610942
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
Q9H6T3
|
| gptkbp:bfsParent |
gptkb:FVT
|
| gptkbp:bfsLayer |
8
|