13q12 or CRYL1 copy number variation (WP5405)
Homo sapiens
Deletion or duplication of the CRYL1 gene located at chromosome 13q12 (chr13:20977806-21100012 (GRCh37)) is a risk factor for psychiatric disorders (Kirov et al. 2014).
Authors
Friederike Ehrhart and Eric WeitzActivity
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Organisms
Homo sapiensCommunities
Annotations
Disease Ontology
chromosomal duplication syndrome disease of mental health chromosomal deletion syndromePathway Ontology
disease pathwayLabel | Type | Compact URI | Comment |
---|---|---|---|
NAD+ | Metabolite | chebi:15846 | |
Cibacron blue | Metabolite | pubchem.compound:172469 | |
3-dehydro-L-gulonate | Metabolite | chebi:57655 | |
Malonate | Metabolite | chebi:38083 | |
NADH | Metabolite | chebi:16908 | |
L-gulonate | Metabolite | chebi:13115 | |
CRYL1 | GeneProduct | ensembl:ENSG00000165475 |
References
- Structural and functional characterization of rabbit and human L-gulonate 3-dehydrogenase. Ishikura S, Usami N, Araki M, Hara A. J Biochem. 2005 Mar;137(3):303–14. PubMed Europe PMC Scholia