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

Rare Diseases

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