Gene: PEX1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750420
rs61750420
PEX1
T 0.810 CausalMutation CLINVAR Friedreich Ataxia in Classical Galactosaemia. 26219880

2016
dbSNP: rs61750420
rs61750420
PEX1
T 0.810 CausalMutation CLINVAR Low bone mineral density is a common feature of Zellweger spectrum disorders. 26643206

2016
dbSNP: rs61750420
rs61750420
PEX1
T 0.810 CausalMutation CLINVAR Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. 26287655

2016
dbSNP: rs61750420
rs61750420
PEX1
T 0.810 CausalMutation CLINVAR Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations. 27882258

2016
dbSNP: rs61750420
rs61750420
PEX1
T 0.810 CausalMutation CLINVAR Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. 27090541

2016
dbSNP: rs61750420
rs61750420
PEX1
T 0.810 CausalMutation CLINVAR Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. 27872819

2016
dbSNP: rs61750420
rs61750420
PEX1
T 0.810 CausalMutation CLINVAR Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 25412400

2015
dbSNP: rs61750420
rs61750420
PEX1
T 0.810 CausalMutation CLINVAR Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 12402331

2002
dbSNP: rs61750420
rs61750420
PEX1
T 0.810 CausalMutation CLINVAR Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847

1997
dbSNP: rs121434455
rs121434455
PEX1
G 0.800 GeneticVariation CLINVAR

dbSNP: rs61750427
rs61750427
PEX1 ; GATAD1
G 0.800 GeneticVariation CLINVAR

dbSNP: rs61750415
rs61750415
PEX1
TA 0.700 CausalMutation CLINVAR Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. 28468868

2017
dbSNP: rs1057517518
rs1057517518
PEX1 ; GATAD1
T 0.700 GeneticVariation CLINVAR Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 27353947

2016
dbSNP: rs61750415
rs61750415
PEX1
TA 0.700 CausalMutation CLINVAR Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. 26287655

2016
dbSNP: rs61750415
rs61750415
PEX1
TA 0.700 CausalMutation CLINVAR Low bone mineral density is a common feature of Zellweger spectrum disorders. 26643206

2016
dbSNP: rs61750415
rs61750415
PEX1
TA 0.700 CausalMutation CLINVAR Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595

2015
dbSNP: rs61750428
rs61750428
PEX1 ; GATAD1
A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs267608176
rs267608176
PEX1
C 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs61750412
rs61750412
PEX1
C 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs61750412
rs61750412
PEX1
C 0.700 GeneticVariation CLINVAR Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence. 21844578

2011
dbSNP: rs766020928
rs766020928
PEX1 ; RBM48
G 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs61750415
rs61750415
PEX1
TA 0.700 CausalMutation CLINVAR Germinal matrix hemorrhage in Zellweger syndrome. 20952722

2010
dbSNP: rs149806989
rs149806989
PEX1
A 0.700 CausalMutation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
dbSNP: rs267608176
rs267608176
PEX1
C 0.700 GeneticVariation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
dbSNP: rs61750428
rs61750428
PEX1 ; GATAD1
A 0.700 GeneticVariation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009