Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 Biomarker GENOMICS_ENGLAND Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene. 27633571

2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 Biomarker GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951

2015
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 Biomarker GENOMICS_ENGLAND Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. 16141001

2005
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 Biomarker GENOMICS_ENGLAND PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. 12032265

2002
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 Biomarker GENOMICS_ENGLAND Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 9398848

1997
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 Biomarker GENOMICS_ENGLAND Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847

1997
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 Biomarker GENOMICS_ENGLAND

Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 8504
Gene Symbol: PEX3
PEX3
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.300 Biomarker GENOMICS_ENGLAND Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. 7719337

1995
Entrez Id: 9409
Gene Symbol: PEX16
PEX16
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 5195
Gene Symbol: PEX14
PEX14
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 5824
Gene Symbol: PEX19
PEX19
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.300 Biomarker GENOMICS_ENGLAND