PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906809
rs387906809
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553936
Disease:
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 GeneticVariation UNIPROT PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. 26593283 2016
dbSNP: rs387906809
rs387906809
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553936
Disease:
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 GeneticVariation UNIPROT Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
dbSNP: rs387906809
rs387906809
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553936
Disease:
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 GeneticVariation UNIPROT Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009