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: rs267608229
rs267608229
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs267608229
rs267608229
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 CausalMutation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
dbSNP: rs267608229
rs267608229
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 CausalMutation CLINVAR Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis. 15858711 2005
dbSNP: rs267608229
rs267608229
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 CausalMutation CLINVAR The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. 8670792 1996