Statements (27)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
gptkb:ANOS1
|
gptkbp:associatedWith |
gptkb:Kallmann_syndrome
hypogonadotropic hypogonadism |
gptkbp:discoveredIn |
1991
|
gptkbp:encodes |
gptkb:anosmin-1
|
gptkbp:Entrez_Gene_ID |
3730
|
gptkbp:expressedIn |
gptkb:kidney
brain |
gptkbp:function |
cell adhesion
neuronal migration |
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
HGNC:6213
|
https://www.w3.org/2000/01/rdf-schema#label |
KAL1
|
gptkbp:locatedOnChromosome |
gptkb:Xp22.3
|
gptkbp:mutationAssociatedWith |
gptkb:X-linked_Kallmann_syndrome
deletion missense mutation nonsense mutation frameshift mutation |
gptkbp:OMIM |
300836
|
gptkbp:orthologInMouse |
gptkb:Kal1
|
gptkbp:product |
gptkb:anosmin-1
|
gptkbp:species |
gptkb:Homo_sapiens
|
gptkbp:UniProtID |
Q12874
|
gptkbp:bfsParent |
gptkb:Kallmann_syndrome
|
gptkbp:bfsLayer |
6
|