PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58
Disease: PEROXISOME BIOGENESIS DISORDER 4B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61753229
rs61753229
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs61753229
rs61753229
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 GeneticVariation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
dbSNP: rs61753229
rs61753229
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 GeneticVariation CLINVAR Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders. 10408779 1999