rs121908332, KCNK9

N. diseases: 5
Disease: Developmental Disabilities ×
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Developmental Disabilities
CUI: C0008073
Disease: Developmental Disabilities
0.010 GeneticVariation BEFREE TASK3 channels are genetically imprinted, and a mutation in TASK3 (G236R) is responsible for Birk Barel mental retardation dysmorphism syndrome, a maternally transmitted developmental disorder. 24342771 2014