rs121913507, KIT

N. diseases: 49
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Medium-chain acyl-coenzyme A dehydrogenase deficiency
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
0.010 GeneticVariation BEFREE Within the last years, evidence has been presented that MCAD is a multifactorial polygenic determined disease with the KIT(D816V) mutation and its induced functional consequences considered as special case. 26880691 2016