Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:CFHR5_nephropathy
|
| gptkbp:chromosomeArm |
1q31.3
|
| gptkbp:discoveredIn |
2002
|
| gptkbp:encodes |
complement factor H-related protein 5
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000134352
10878 |
| gptkbp:expressedIn |
liver
|
| gptkbp:hasRefSeqID |
NM_030787
|
| gptkbp:HGNC_ID |
HGNC:4885
|
| https://www.w3.org/2000/01/rdf-schema#label |
CFHR5 gene
|
| gptkbp:involvedIn |
complement activation
|
| gptkbp:locatedOnChromosome |
chromosome 1
|
| gptkbp:memberOf |
complement factor H-related genes
|
| gptkbp:mutationAssociatedWith |
nephrotic syndrome
|
| gptkbp:OMIM |
608593
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Cfhr5
|
| gptkbp:product |
CFHR5 protein
|
| gptkbp:UniProtID |
Q9BXR6
|
| gptkbp:bfsParent |
gptkb:CFHR5
|
| gptkbp:bfsLayer |
8
|