Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
AURAL ATRESIA, CONGENITAL
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
0.010 GeneticVariation BEFREE Upon our previous genotyping data of 157 valid KD subjects, a genome-wide association study (GWAS) has been conducted among 11 (7%) CAA-developed KD patients to reveal five significant genetic variants passed pre-defined thresholds and resulted in two novel susceptibility protein-coding genes, which are NEBL (rs16921209 (P = 7.44 × 10(-9); OR = 32.22) and rs7922552 (P = 8.43 × 10(-9); OR = 32.0)) and TUBA3C (rs17076896 (P = 8.04 × 10(-9); OR = 21.03)). 27171184 2016