rs62636524, PEX10;PLCH2

N. diseases: 1
Disease: PEROXISOME BIOGENESIS DISORDER 6B ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PEROXISOME BIOGENESIS DISORDER 6B
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
0.700 GeneticVariation CLINVAR Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. 21465523 2011
PEROXISOME BIOGENESIS DISORDER 6B
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
0.700 GeneticVariation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004