Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61753219
rs61753219
PEX6
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2 		A 0.800 CausalMutation CLINVAR

dbSNP: rs61753219
rs61753219
PEX6
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. 26593283

2016
dbSNP: rs61753219
rs61753219
PEX6
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. 26593283

2016
dbSNP: rs61753219
rs61753219
PEX6
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595

2015
dbSNP: rs61753219
rs61753219
PEX6
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595

2015
dbSNP: rs61753219
rs61753219
PEX6
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		A 0.700 GeneticVariation CLINVAR Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. 24016303

2013
dbSNP: rs61753219
rs61753219
PEX6
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		A 0.700 GeneticVariation CLINVAR Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. 24016303

2013
dbSNP: rs61753219
rs61753219
PEX6
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Genetics and molecular basis of human peroxisome biogenesis disorders. 22871920

2012
dbSNP: rs61753219
rs61753219
PEX6
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Genetics and molecular basis of human peroxisome biogenesis disorders. 22871920

2012
dbSNP: rs61753219
rs61753219
PEX6
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		A 0.700 GeneticVariation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282

2010
dbSNP: rs61753219
rs61753219
PEX6
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		A 0.700 GeneticVariation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282

2010
dbSNP: rs61753219
rs61753219
PEX6
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Peroxisome biogenesis disorders. 17055079

2006
dbSNP: rs61753219
rs61753219
PEX6
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Peroxisome biogenesis disorders. 17055079

2006
dbSNP: rs61753219
rs61753219
PEX6
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. 15098231

2004
dbSNP: rs61753219
rs61753219
PEX6
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Metabolic and molecular basis of peroxisomal disorders: a review. 15098234

2004
dbSNP: rs61753219
rs61753219
PEX6
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. 15098231

2004
dbSNP: rs61753219
rs61753219
PEX6
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		A 0.700 GeneticVariation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397

2004
dbSNP: rs61753219
rs61753219
PEX6
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		A 0.700 GeneticVariation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397

2004
dbSNP: rs61753219
rs61753219
PEX6
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Metabolic and molecular basis of peroxisomal disorders: a review. 15098234

2004
dbSNP: rs61753219
rs61753219
PEX6
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. 11873320

2002
dbSNP: rs61753219
rs61753219
PEX6
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. 11873320

2002
dbSNP: rs61753219
rs61753219
PEX6
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. 8670792

1996
dbSNP: rs61753219
rs61753219
PEX6
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. 8670792

1996
dbSNP: rs61753219
rs61753219
PEX6
CUI: C1868549
Disease: Marked delay in bone age
Marked delay in bone age 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs61753219
rs61753219
PEX6
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		A 0.700 GeneticVariation CLINVAR