13q12 or CRYL1 copy number variation (WP5405)

Homo sapiens

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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 Weitz

Activity

last edited

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Organisms

Homo sapiens

Communities

Annotations

Disease Ontology

chromosomal duplication syndrome disease of mental health chromosomal deletion syndrome

Pathway Ontology

disease pathway

Participants
Query Drugst.One

Label 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

  1. 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