PEX10, peroxisomal biogenesis factor 10, 5192

N. diseases: 141; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in PEX10 are a cause of autosomal recessive ataxia. 20695019 2010
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in PEX10 are a cause of autosomal recessive ataxia. 20695019 2010
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.670 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in PEX10 are a cause of autosomal recessive ataxia. 20695019 2010
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report. 28784167 2017
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in PEX10 are a cause of autosomal recessive ataxia. 20695019 2010
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.520 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		0.520 Biomarker disease GENOMICS_ENGLAND
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C3550234
Disease: PEROXISOME BIOGENESIS DISORDER 2B
PEROXISOME BIOGENESIS DISORDER 2B 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 GeneticVariation disease UNIPROT Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. 9683594 1998
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		0.520 GermlineCausalMutation disease ORPHANET
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.300 GermlineCausalMutation disease ORPHANET
CUI: C0004134
Disease: Ataxia
Ataxia 		0.130 Biomarker phenotype HPO
CUI: C0001403
Disease: Addison Disease
Addison Disease 		0.100 Biomarker disease HPO
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		0.100 Biomarker phenotype HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 Biomarker disease HPO