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
|
| 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 |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
KAL1
|