PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58
Disease: Peroxisome biogenesis disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752140
rs61752140
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		0.010 GeneticVariation BEFREE These results indicate that L57P in Pex6p is a temperature-sensitive mutation causing the milder phenotype in a patient with PBD in CG-C. 11004248 2000