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: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B
0.700 Biomarker disease CTD_human
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B
0.700 CausalMutation disease CLINVAR
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
0.600 Biomarker disease CTD_human
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
0.600 CausalMutation disease CLINVAR
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: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder)
0.300 GermlineCausalMutation disease ORPHANET
CUI: C3550234
Disease: PEROXISOME BIOGENESIS DISORDER 2B
PEROXISOME BIOGENESIS DISORDER 2B
0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.110 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract
0.110 Biomarker disease HPO
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
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