Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C3553951
Disease: PEROXISOME BIOGENESIS DISORDER 7B
PEROXISOME BIOGENESIS DISORDER 7B
0.700 Biomarker GENOMICS_ENGLAND Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 28944237

2017

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
0.700 Biomarker GENOMICS_ENGLAND Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 28944237

2017

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C3553951
Disease: PEROXISOME BIOGENESIS DISORDER 7B
PEROXISOME BIOGENESIS DISORDER 7B
0.700 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C3553951
Disease: PEROXISOME BIOGENESIS DISORDER 7B
PEROXISOME BIOGENESIS DISORDER 7B
0.700 Biomarker GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685

2014

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
0.700 Biomarker GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685

2014

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
0.700 Biomarker GENOMICS_ENGLAND Preimplantation genetic diagnosis for Zellweger syndrome. 17336976

2007

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
0.700 Biomarker GENOMICS_ENGLAND Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis. 15858711

2005

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C3553951
Disease: PEROXISOME BIOGENESIS DISORDER 7B
PEROXISOME BIOGENESIS DISORDER 7B
0.700 Biomarker GENOMICS_ENGLAND The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397

2004

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders
0.640 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder)
0.610 Biomarker GENOMICS_ENGLAND

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome
0.510 Biomarker GENOMICS_ENGLAND

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
0.300 Biomarker GENOMICS_ENGLAND Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 28944237

2017

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
0.300 Biomarker GENOMICS_ENGLAND Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 28944237

2017

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
Deafness enamel hypoplasia nail defects
0.300 Biomarker GENOMICS_ENGLAND Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 28944237

2017

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C3550234
Disease: PEROXISOME BIOGENESIS DISORDER 2B
PEROXISOME BIOGENESIS DISORDER 2B
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C3550693
Disease: PEROXISOME BIOGENESIS DISORDER 3B
PEROXISOME BIOGENESIS DISORDER 3B
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
0.300 Biomarker GENOMICS_ENGLAND