Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91662
Gene Symbol: NLRP12
NLRP12
0.010 GeneticVariation disease BEFREE Here, we report on a 20-year-old female patient diagnosed with common variable immunodeficiency (CVID), who developed intestinal amyloidosis and carried novel compound heterozygous mutations in NLRP12, identified by whole exome and transcriptome sequencing. 25064839 2014