rs149382949, ANKZF1

N. diseases: 2
Disease: Inflammatory Bowel Diseases ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE Homozygosity mapping and whole-exome sequencing in an IO IBD patient and subsequent sequencing of the candidate gene in 12 additional IO IBD patients revealed two patients with two mutated ankyrin repeat and zinc-finger domain-containing 1 (<i>ANKZF1</i>) alleles (homozygous <i>ANKZF1</i> R585Q mutation and compound heterozygous <i>ANKZF1</i> E152K and V32_Q87del mutations, respectively) and two patients with one mutated <i>ANKZF1</i> allele. 28302725 2017