rs879255597, NEDD4L

N. diseases: 3
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PERIVENTRICULAR NODULAR HETEROTOPIA 7
CUI: C4310669
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7
0.800 GeneticVariation UNIPROT Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. 27694961 2016
PERIVENTRICULAR NODULAR HETEROTOPIA 7
CUI: C4310669
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7
0.800 CausalMutation CLINVAR