rs61750420, PEX1

N. diseases: 52
Disease: Zellweger Spectrum Disorder ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Zellweger Spectrum Disorder
CUI: C4687396
Disease: Zellweger Spectrum Disorder
0.030 GeneticVariation BEFREE A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum Disorder. 31254513 2019
Zellweger Spectrum Disorder
CUI: C4687396
Disease: Zellweger Spectrum Disorder
0.030 GeneticVariation BEFREE We suggest that diosmetin, in clinical use for chronic venous disease, and related flavonoids warrant further preclinical investigation for the treatment of PEX1-G843D-associated ZSD. 30362618 2019
Zellweger Spectrum Disorder
CUI: C4687396
Disease: Zellweger Spectrum Disorder
0.030 GeneticVariation BEFREE Thus, the Pex1-G844D mouse provides a powerful model system for testing candidate therapies that address the most common genetic cause of ZSD. 24503136 2014