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: C0015967
Disease: Fever
Fever 		0.010 GeneticVariation phenotype 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: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.010 GeneticVariation disease BEFREE The immunofluorescent staining with anti-Pex13p antibody also revealed TS phenotype of the I326T mutant protein itself in the patient cells. 16006427 2005
CUI: C0040963
Disease: Tricuspid Valve Stenosis
Tricuspid Valve Stenosis 		0.010 GeneticVariation disease BEFREE The immunofluorescent staining with anti-Pex13p antibody also revealed TS phenotype of the I326T mutant protein itself in the patient cells. 16006427 2005
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 GeneticVariation disease BEFREE The immunofluorescent staining with anti-Pex13p antibody also revealed TS phenotype of the I326T mutant protein itself in the patient cells. 16006427 2005
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		0.010 GeneticVariation disease BEFREE The immunofluorescent staining with anti-Pex13p antibody also revealed TS phenotype of the I326T mutant protein itself in the patient cells. 16006427 2005
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0001403
Disease: Addison Disease
Addison Disease 		0.100 Biomarker disease HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		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: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		0.100 Biomarker disease HPO
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.100 Biomarker disease HPO
CUI: C0022346
Disease: Icterus
Icterus 		0.100 Biomarker phenotype HPO
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.100 Biomarker group HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO