Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Infantile nystagmus syndrome
CUI: C1533172
Disease: Infantile nystagmus syndrome
0.030 GeneticVariation BEFREE MDR1 rs1128503, rs1045642, and rs2032582 polymorphisms are not associated with INS susceptibility; however, there is evidence of an association between rs1128503 and increased risk of steroid resistance in children with INS, which indicates MDR1 may play a role in steroid resistance found in children with INS. 28614261 2017
Infantile nystagmus syndrome
CUI: C1533172
Disease: Infantile nystagmus syndrome
0.030 GeneticVariation BEFREE The role of the multidrug resistance-1 (MDR1 or ABCB1) gene polymorphisms 1236T>C, 2677T>G, and 3435T>C was studied in relation to susceptibility, demographics, and pathological characteristics, as well as their role in the therapeutic response (TR) to prednisone treatment in children with idiopathic nephrotic syndrome (INS). 25559283 2015
Infantile nystagmus syndrome
CUI: C1533172
Disease: Infantile nystagmus syndrome
0.030 GeneticVariation BEFREE The purpose of the study was to investigate the distribution of insertion/deletion (I/D) polymorphisms of the angiotensin-converting enzyme (ACE) gene and three exonic polymorphisms of the multidrug resistance 1 (MDR1) gene (C3435T, C1236T, and G2677T) in children diagnosed with idiopathic nephrotic syndrome (INS). 26154535 2015