PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58
Disease: HEIMLER SYNDROME 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037782
rs886037782
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C4225267
Disease:
HEIMLER SYNDROME 2 		0.800 GeneticVariation UNIPROT Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843 2016
dbSNP: rs886037782
rs886037782
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C4225267
Disease:
HEIMLER SYNDROME 2 		A 0.800 CausalMutation CLINVAR Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843 2016
dbSNP: rs886037782
rs886037782
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C4225267
Disease:
HEIMLER SYNDROME 2 		0.800 GeneticVariation UNIPROT Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595 2015
dbSNP: rs886037782
rs886037782
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C4225267
Disease:
HEIMLER SYNDROME 2 		0.800 GeneticVariation UNIPROT Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009