rs139632595, EXOSC9

N. diseases: 19
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PONTOCEREBELLAR HYPOPLASIA, TYPE 1D
CUI: C4748058
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D
0.800 GeneticVariation UNIPROT Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. 29727687 2018
PONTOCEREBELLAR HYPOPLASIA, TYPE 1D
CUI: C4748058
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D
0.800 CausalMutation CLINVAR