Disease: Regional enteritis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104895477
rs104895477
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		A 0.700 CausalMutation CLINVAR A Case of Blau Syndrome with NOD2 E383K Mutation. 27339507 2016
dbSNP: rs104895462
rs104895462
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		T 0.700 CausalMutation CLINVAR Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. 25416713 2015
dbSNP: rs104895477
rs104895477
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		A 0.700 CausalMutation CLINVAR Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. 25829188 2015
dbSNP: rs2066847
rs2066847
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		GC 0.700 SusceptibilityMutation CLINVAR Dysfunctional Crohn's Disease-Associated NOD2 Polymorphisms Cannot be Reliably Predicted on the Basis of RIPK2 Binding or Membrane Association. 26500656 2015
dbSNP: rs104895462
rs104895462
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		T 0.700 CausalMutation CLINVAR Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. 24713464 2014
dbSNP: rs104895477
rs104895477
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		A 0.700 CausalMutation CLINVAR Blau syndrome, the prototypic auto-inflammatory granulomatous disease. 25136265 2014
dbSNP: rs104895477
rs104895477
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		A 0.700 CausalMutation CLINVAR Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. 25093298 2014
dbSNP: rs2066844
rs2066844
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		T 0.700 SusceptibilityMutation CLINVAR The intermediate filament protein, vimentin, is a regulator of NOD2 activity. 22684479 2013
dbSNP: rs2066847
rs2066847
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		GC 0.700 SusceptibilityMutation CLINVAR The intermediate filament protein, vimentin, is a regulator of NOD2 activity. 22684479 2013
dbSNP: rs104895462
rs104895462
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		T 0.700 CausalMutation CLINVAR NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. 22509093 2012
dbSNP: rs104895467
rs104895467
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		G 0.700 SusceptibilityMutation CLINVAR Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. 21983784 2011
dbSNP: rs2066844
rs2066844
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		T 0.700 SusceptibilityMutation CLINVAR NOD2 exonic variations in Iranian Crohn's disease patients. 21274544 2011
dbSNP: rs2066844
rs2066844
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		T 0.700 SusceptibilityMutation CLINVAR Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study. 21548950 2011
dbSNP: rs2066845
rs2066845
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		C 0.700 SusceptibilityMutation CLINVAR Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study. 21548950 2011
dbSNP: rs2066847
rs2066847
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		GC 0.700 SusceptibilityMutation CLINVAR Genome-wide expression profiling identifies an impairment of negative feedback signals in the Crohn's disease-associated NOD2 variant L1007fsinsC. 21335489 2011
dbSNP: rs2066847
rs2066847
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		GC 0.700 SusceptibilityMutation CLINVAR Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study. 21548950 2011
dbSNP: rs104895477
rs104895477
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		A 0.700 CausalMutation CLINVAR Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. 20565245 2010
dbSNP: rs104895477
rs104895477
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		A 0.700 CausalMutation CLINVAR Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. 18718560 2009
dbSNP: rs104895477
rs104895477
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		A 0.700 CausalMutation CLINVAR Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree. 19479836 2009
dbSNP: rs2066844
rs2066844
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		T 0.700 SusceptibilityMutation CLINVAR Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis. 19713276 2009
dbSNP: rs2066845
rs2066845
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		C 0.700 SusceptibilityMutation CLINVAR Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis. 19713276 2009
dbSNP: rs2066847
rs2066847
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		GC 0.700 SusceptibilityMutation CLINVAR Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis. 19713276 2009
dbSNP: rs2066844
rs2066844
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		T 0.700 SusceptibilityMutation CLINVAR Variants of CARD15, TNFA and PTPN22 and susceptibility to Crohn's disease in the Czech population: high frequency of the CARD15 1007fs. 18489434 2008
dbSNP: rs2066844
rs2066844
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		T 0.700 SusceptibilityMutation CLINVAR Monocyte-derived dendritic cells from Crohn patients show differential NOD2/CARD15-dependent immune responses to bacteria. 18240302 2008
dbSNP: rs2066845
rs2066845
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0678202
Disease:
Regional enteritis 		C 0.700 SusceptibilityMutation CLINVAR Variants of CARD15, TNFA and PTPN22 and susceptibility to Crohn's disease in the Czech population: high frequency of the CARD15 1007fs. 18489434 2008