Annotation Detail
Information
- Associated Genes
- CPS1
- Associated Variants
-
CPS1 p.Asn1399Thr (p.N1399T)
(
ENST00000233072.10,
ENST00000430249.7,
ENST00000451903.3,
ENST00000673510.1,
ENST00000673630.1,
ENST00000673711.1 )
CPS1 p.Thr1406Asn (p.T1406N) ( ENST00000233072.10, ENST00000430249.7, ENST00000451903.3, ENST00000673510.1, ENST00000673630.1, ENST00000673711.1 )
CPS1 p.Asn1399Thr (p.N1399T) ( ENST00000233072.10, ENST00000430249.7, ENST00000451903.3, ENST00000673510.1, ENST00000673630.1, ENST00000673711.1 )
CPS1 p.Thr1406Asn (p.T1406N) ( ENST00000233072.10, ENST00000430249.7, ENST00000451903.3, ENST00000673510.1, ENST00000673630.1, ENST00000673711.1 ) - Associated Disease
- Down syndrome
- Source Database
- DisGeNET
- Description
- Unconditional logistic regression analysis of the modeling cohort revealed that age (OR=0.92, p=0.01), CPSI T1405N genotype (AC vs. AA: OR=4.08, p=0.04, CC vs. AA: OR=5.96, p=0.01), and Down syndrome (OR=5.25, p=0.04) were independent predictors of this complex phenotype.
- Pubmed
- 17188582
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2007
Drugs