PEX10, peroxisomal biogenesis factor 10, 5192

N. diseases: 141; N. variants: 27
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752095
rs61752095
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553948
Disease:
PEROXISOME BIOGENESIS DISORDER 6B 		0.800 GeneticVariation UNIPROT Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. 9683594 1998
dbSNP: rs61752095
rs61752095
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553948
Disease:
PEROXISOME BIOGENESIS DISORDER 6B 		C 0.800 CausalMutation CLINVAR
dbSNP: rs267608183
rs267608183
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553948
Disease:
PEROXISOME BIOGENESIS DISORDER 6B 		T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs369965266
rs369965266
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553947
Disease:
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs369965266
rs369965266
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553948
Disease:
PEROXISOME BIOGENESIS DISORDER 6B 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs886041314
rs886041314
Entrez Id: 5192;9651
Gene Symbol: PEX10;PLCH2
PEX10;PLCH2
CUI: C3553948
Disease:
PEROXISOME BIOGENESIS DISORDER 6B 		C 0.700 GeneticVariation CLINVAR High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders. 25179809 2014
dbSNP: rs886041314
rs886041314
Entrez Id: 5192;9651
Gene Symbol: PEX10;PLCH2
PEX10;PLCH2
CUI: C3553947
Disease:
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		C 0.700 GeneticVariation CLINVAR High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders. 25179809 2014
dbSNP: rs267608183
rs267608183
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C1864399
Disease:
Peroxisome Biogenesis Disorder, Complementation Group 7 		T 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs267608183
rs267608183
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553948
Disease:
PEROXISOME BIOGENESIS DISORDER 6B 		T 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs369965266
rs369965266
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553948
Disease:
PEROXISOME BIOGENESIS DISORDER 6B 		A 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs369965266
rs369965266
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553947
Disease:
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		A 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61750435
rs61750435
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C1864399
Disease:
Peroxisome Biogenesis Disorder, Complementation Group 7 		CT 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61750435
rs61750435
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		CT 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752093
rs61752093
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C1864399
Disease:
Peroxisome Biogenesis Disorder, Complementation Group 7 		C 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752093
rs61752093
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553947
Disease:
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		C 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752093
rs61752093
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		C 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs62636524
rs62636524
Entrez Id: 5192;9651
Gene Symbol: PEX10;PLCH2
PEX10;PLCH2
CUI: C3553948
Disease:
PEROXISOME BIOGENESIS DISORDER 6B 		G 0.700 GeneticVariation CLINVAR Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. 21465523 2011
dbSNP: rs724160002
rs724160002
Entrez Id: 5192;9651
Gene Symbol: PEX10;PLCH2
PEX10;PLCH2
CUI: C3553947
Disease:
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		G 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs724160002
rs724160002
Entrez Id: 5192;9651
Gene Symbol: PEX10;PLCH2
PEX10;PLCH2
CUI: C3553948
Disease:
PEROXISOME BIOGENESIS DISORDER 6B 		G 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61750435
rs61750435
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553947
Disease:
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		CT 0.700 CausalMutation CLINVAR Mutations in PEX10 are a cause of autosomal recessive ataxia. 20695019 2010
dbSNP: rs61750435
rs61750435
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C1864399
Disease:
Peroxisome Biogenesis Disorder, Complementation Group 7 		CT 0.700 CausalMutation CLINVAR Mutations in PEX10 are a cause of autosomal recessive ataxia. 20695019 2010
dbSNP: rs61750435
rs61750435
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553948
Disease:
PEROXISOME BIOGENESIS DISORDER 6B 		CT 0.700 CausalMutation CLINVAR Mutations in PEX10 are a cause of autosomal recessive ataxia. 20695019 2010
dbSNP: rs724160002
rs724160002
Entrez Id: 5192;9651
Gene Symbol: PEX10;PLCH2
PEX10;PLCH2
CUI: C3553948
Disease:
PEROXISOME BIOGENESIS DISORDER 6B 		G 0.700 CausalMutation CLINVAR Mutations in PEX10 are a cause of autosomal recessive ataxia. 20695019 2010
dbSNP: rs724160002
rs724160002
Entrez Id: 5192;9651
Gene Symbol: PEX10;PLCH2
PEX10;PLCH2
CUI: C3553947
Disease:
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		G 0.700 CausalMutation CLINVAR Mutations in PEX10 are a cause of autosomal recessive ataxia. 20695019 2010
dbSNP: rs61750435
rs61750435
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C1864399
Disease:
Peroxisome Biogenesis Disorder, Complementation Group 7 		CT 0.700 CausalMutation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009