rs104895467, NOD2

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.720 GeneticVariation BEFREE In all subjects, just one band of 151 bp, corresponding to wild-type N852S, was found, and no other N852S mutant bands (151+129+22 and 129+22 bp) were detected using PCR-RFLP fragment electrophoresis.The CTLA-4 gene +49 A/G polymorphism and the NOD2/CARD15 gene N852S polymorphism were not associated with CD or UC in a Turkish population. 30213296 2018
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.720 GeneticVariation BEFREE In contrast, JW1 and N852S polymorphisms may not be related to CD susceptibility in these patients. 24782627 2014
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.720 GeneticVariation UNIPROT
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.700 SusceptibilityMutation CLINVAR Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. 21983784 2011
Regional enteritis
CUI: C0678202
Disease: Regional enteritis
0.700 SusceptibilityMutation CLINVAR Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. 21983784 2011
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.010 GeneticVariation BEFREE In all subjects, just one band of 151 bp, corresponding to wild-type N852S, was found, and no other N852S mutant bands (151+129+22 and 129+22 bp) were detected using PCR-RFLP fragment electrophoresis.The CTLA-4 gene +49 A/G polymorphism and the NOD2/CARD15 gene N852S polymorphism were not associated with CD or UC in a Turkish population. 30213296 2018
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE CTLA-4 (+49A/G) and NOD2/CARD15 (N852S) polymorphisms with inflammatory bowel disease in Turkish patients. 30213296 2018