rs267608247
×
Entrez Id:
5190
Gene Symbol:
PEX6
PEX6
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
26593283
2016
rs61753219
×
Entrez Id:
5190
Gene Symbol:
PEX6
PEX6
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
26593283
2016
rs267608247
×
Entrez Id:
5190
Gene Symbol:
PEX6
PEX6
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
26387595
2015
rs61753219
×
Entrez Id:
5190
Gene Symbol:
PEX6
PEX6
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
26387595
2015
rs267608247
×
Entrez Id:
5190
Gene Symbol:
PEX6
PEX6
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Genetics and molecular basis of human peroxisome biogenesis disorders.
22871920
2012
rs61753219
×
Entrez Id:
5190
Gene Symbol:
PEX6
PEX6
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Genetics and molecular basis of human peroxisome biogenesis disorders.
22871920
2012
rs267608247
×
Entrez Id:
5190
Gene Symbol:
PEX6
PEX6
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Peroxisome biogenesis disorders.
17055079
2006
rs61753219
×
Entrez Id:
5190
Gene Symbol:
PEX6
PEX6
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Peroxisome biogenesis disorders.
17055079
2006
rs267608247
×
Entrez Id:
5190
Gene Symbol:
PEX6
PEX6
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.
15098231
2004
rs267608247
×
Entrez Id:
5190
Gene Symbol:
PEX6
PEX6
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Metabolic and molecular basis of peroxisomal disorders: a review.
15098234
2004
rs61753219
×
Entrez Id:
5190
Gene Symbol:
PEX6
PEX6
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Metabolic and molecular basis of peroxisomal disorders: a review.
15098234
2004
rs61753219
×
Entrez Id:
5190
Gene Symbol:
PEX6
PEX6
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.
15098231
2004
rs267608247
×
Entrez Id:
5190
Gene Symbol:
PEX6
PEX6
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
rs61753219
×
Entrez Id:
5190
Gene Symbol:
PEX6
PEX6
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
rs267608247
×
Entrez Id:
5190
Gene Symbol:
PEX6
PEX6
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
rs61753219
×
Entrez Id:
5190
Gene Symbol:
PEX6
PEX6
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