PEX5, peroxisomal biogenesis factor 5, 5830

N. diseases: 174; N. variants: 5
Disease: PEROXISOME BIOGENESIS DISORDER 2B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752138
rs61752138
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C3550234
Disease:
PEROXISOME BIOGENESIS DISORDER 2B 		0.800 GeneticVariation UNIPROT Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients. 10462504 1999
dbSNP: rs61752138
rs61752138
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C3550234
Disease:
PEROXISOME BIOGENESIS DISORDER 2B 		0.800 GeneticVariation UNIPROT Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. 7719337 1995
dbSNP: rs61752138
rs61752138
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C3550234
Disease:
PEROXISOME BIOGENESIS DISORDER 2B 		G 0.800 CausalMutation CLINVAR