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: rs768893724
rs768893724
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553947
Disease:
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs769251149
rs769251149
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553948
Disease:
PEROXISOME BIOGENESIS DISORDER 6B 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs769251149
rs769251149
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553947
Disease:
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs867305222
rs867305222
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553948
Disease:
PEROXISOME BIOGENESIS DISORDER 6B 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs867305222
rs867305222
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553947
Disease:
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs878853044
rs878853044
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C1864399
Disease:
Peroxisome Biogenesis Disorder, Complementation Group 7 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1325771720
rs1325771720
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553948
Disease:
PEROXISOME BIOGENESIS DISORDER 6B 		G 0.700 GeneticVariation CLINVAR Formation of the peroxisome lumen is abolished by loss of Pichia pastoris Pas7p, a zinc-binding integral membrane protein of the peroxisome. 7565793 1995
dbSNP: rs1325771720
rs1325771720
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553947
Disease:
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		G 0.700 GeneticVariation CLINVAR Formation of the peroxisome lumen is abolished by loss of Pichia pastoris Pas7p, a zinc-binding integral membrane protein of the peroxisome. 7565793 1995
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: 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: rs61752093
rs61752093
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C1864399
Disease:
Peroxisome Biogenesis Disorder, Complementation Group 7 		C 0.700 CausalMutation CLINVAR Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. 12794690 2003
dbSNP: rs61752093
rs61752093
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553948
Disease:
PEROXISOME BIOGENESIS DISORDER 6B 		C 0.700 CausalMutation CLINVAR Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. 12794690 2003
dbSNP: rs61752093
rs61752093
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C3553947
Disease:
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		C 0.700 CausalMutation CLINVAR Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. 12794690 2003
dbSNP: rs61752093
rs61752093
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		C 0.700 CausalMutation CLINVAR Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. 12794690 2003
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