PEX13, peroxisomal biogenesis factor 13, 5194

N. diseases: 132; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.100 Biomarker phenotype HPO
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		0.100 Biomarker disease HPO
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		0.100 Biomarker disease HPO
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		0.100 Biomarker phenotype HPO
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		0.100 Biomarker phenotype HPO
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		0.100 Biomarker phenotype HPO
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.100 Biomarker phenotype HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		0.100 Biomarker phenotype HPO
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.100 Biomarker disease HPO
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		0.100 Biomarker phenotype HPO
CUI: C0001403
Disease: Addison Disease
Addison Disease 		0.100 Biomarker disease HPO
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.300 Biomarker disease CTD_human PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders. 10441568 1999
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		0.510 GermlineCausalMutation disease ORPHANET
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		0.510 Biomarker disease GENOMICS_ENGLAND
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		0.510 GeneticVariation disease BEFREE Our previous study of a NALD patient with a marked deterioration by a fever revealed a mutation (Ile326Thr) within a SH3 domain of PEX13 protein (Pex13p), showing a temperature-sensitive (TS) phenotype in peroxisomal biogenesis. 16006427 2005
CUI: C1527231
Disease: Adrenomyeloneuropathy
Adrenomyeloneuropathy 		0.300 Biomarker disease CTD_human PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders. 10441568 1999
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C1303007
Disease: Brushfield spots
Brushfield spots 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.100 Biomarker phenotype HPO