rs61753219, PEX6

N. diseases: 64
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HEIMLER SYNDROME 2
CUI: C4225267
Disease: HEIMLER SYNDROME 2
0.800 GeneticVariation UNIPROT Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843 2016
HEIMLER SYNDROME 2
CUI: C4225267
Disease: HEIMLER SYNDROME 2
0.800 GeneticVariation UNIPROT Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595 2015
HEIMLER SYNDROME 2
CUI: C4225267
Disease: HEIMLER SYNDROME 2
0.800 GeneticVariation UNIPROT Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
HEIMLER SYNDROME 2
CUI: C4225267
Disease: HEIMLER SYNDROME 2
0.800 CausalMutation CLINVAR
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. 26593283 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. 26593283 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595 2015
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
0.700 GeneticVariation CLINVAR Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. 24016303 2013
PEROXISOME BIOGENESIS DISORDER 4B
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
0.700 GeneticVariation CLINVAR Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. 24016303 2013
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Genetics and molecular basis of human peroxisome biogenesis disorders. 22871920 2012
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Genetics and molecular basis of human peroxisome biogenesis disorders. 22871920 2012
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
0.700 GeneticVariation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
PEROXISOME BIOGENESIS DISORDER 4B
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
0.700 GeneticVariation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Peroxisome biogenesis disorders. 17055079 2006
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Peroxisome biogenesis disorders. 17055079 2006
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
0.700 GeneticVariation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. 15098231 2004
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Metabolic and molecular basis of peroxisomal disorders: a review. 15098234 2004
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. 15098231 2004
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Metabolic and molecular basis of peroxisomal disorders: a review. 15098234 2004
PEROXISOME BIOGENESIS DISORDER 4B
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
0.700 GeneticVariation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
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
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
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
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
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