rs61753219, PEX6

N. diseases: 64
Disease: PEROXISOME BIOGENESIS DISORDER 4B ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PEROXISOME BIOGENESIS DISORDER 4B
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
0.700 GeneticVariation CLINVAR Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. 24016303 2013
PEROXISOME BIOGENESIS DISORDER 4B
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
0.700 GeneticVariation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
PEROXISOME BIOGENESIS DISORDER 4B
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
0.700 GeneticVariation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004