Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2066845
rs2066845
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1611743
Disease:
Familial (FPAH)
0.030 GeneticVariation BEFREE In the present study, we report a case of familial sarcoidosis with typical thoracic sarcoidosis and carrying the NOD2 2722G > C variant. 29554915 2018
dbSNP: rs2066845
rs2066845
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1611743
Disease:
Familial (FPAH)
0.030 GeneticVariation BEFREE As far as the genotype-phenotype correlations are concerned, by multivariate conditional logistic regression methods, we found a significant association between Gly908Arg mutations and familial history of inflammatory bowel disease, between Leu1007fsinsC mutations and appendectomy and between Arg702Trp mutations and fibrostenotic phenotype of Crohn's disease. 17301648 2007
dbSNP: rs2066845
rs2066845
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1611743
Disease:
Familial (FPAH)
0.030 GeneticVariation BEFREE Our aim was to evaluate the allele frequencies of the CARD15 variants R702W, G908R, and 1007fs in Finnish inflammatory bowel disease (IBD) patients and to search for possible associations between CARD15 variants and occurrence of familial forms of IBD or complicated forms of CD. 12631669 2003
dbSNP: rs2066844
rs2066844
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C1611743
Disease:
Familial (FPAH)
0.010 GeneticVariation BEFREE Our aim was to evaluate the allele frequencies of the CARD15 variants R702W, G908R, and 1007fs in Finnish inflammatory bowel disease (IBD) patients and to search for possible associations between CARD15 variants and occurrence of familial forms of IBD or complicated forms of CD. 12631669 2003