Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
Kir7.1
|
| gptkbp:associatedWith |
gptkb:Snowflake_vitreoretinal_degeneration
gptkb:Leber_congenital_amaurosis |
| gptkbp:encodes |
inward rectifier potassium channel 13
|
| gptkbp:Entrez_Gene_ID |
3766
|
| gptkbp:expressedIn |
gptkb:retinal_pigment_epithelium
thyroid gland choroid plexus |
| gptkbp:function |
potassium ion transport
maintenance of membrane potential |
| gptkbp:HGNC_ID |
6251
|
| https://www.w3.org/2000/01/rdf-schema#label |
KCNJ13
|
| gptkbp:locatedOnChromosome |
chromosome 2
|
| gptkbp:mutationAssociatedWith |
retinal dystrophy
|
| gptkbp:OMIM |
603208
|
| gptkbp:product |
Kir7.1
|
| gptkbp:proteinFamily |
potassium inwardly-rectifying channel family
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:bfsParent |
gptkb:HHBIRK1
|
| gptkbp:bfsLayer |
7
|