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
- Necrotizing Enterocolitis
- Source Database
- DisGeNET
- Description
- These data suggest that the CPS1 T1405N polymorphism may be associated with the risk of NEC in preterm infants.
- Pubmed
- 17597649
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00563426596522981
- Year of publication
- 2007
Drugs