Phenotype: Abnormal circulating long-chain fatty-acid concentration (HP:0010964)
Associated genes and diseases:
gene_symbol: PEX5
disease_id: OMIM:202370
disease_name: PEROXISOME BIOGENESIS DISORDER 2B
gene_symbol: PEX5
disease_id: OMIM:214110
disease_name: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
gene_symbol: CPT2
disease_id: OMIM:608836
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
gene_symbol: CPT2
disease_id: ORPHA:228302
disease_name: Carnitine palmitoyl transferase II deficiency, myopathic form
CPT2, adult-onset form
CPT2, myopathic form
CPTII, adult-onset form
CPTII, myopathic form
Carnitine palmitoyl transferase II deficiency, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, myopathic form
gene_symbol: ABCD1
disease_id: OMIM:300100
disease_name: ADRENOLEUKODYSTROPHY
gene_symbol: PEX19
disease_id: OMIM:614886
disease_name: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
gene_symbol: PEX1
disease_id: OMIM:214100
disease_name: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
gene_symbol: PEX26
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX2
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: PEX2
disease_id: OMIM:614867
disease_name: PEROXISOME BIOGENESIS DISORDER 5B
gene_symbol: PEX3
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX16
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX16
disease_id: OMIM:614877
disease_name: PEROXISOME BIOGENESIS DISORDER 8B
gene_symbol: PEX6
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX11B
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX12
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX12
disease_id: OMIM:266510
disease_name: PEROXISOME BIOGENESIS DISORDER 3B
gene_symbol: PEX13
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX14
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: AMACR
disease_id: OMIM:614307
disease_name: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY
gene_symbol: PEX7
disease_id: OMIM:614879
disease_name: PEROXISOME BIOGENESIS DISORDER 9B
gene_symbol: PEX7
disease_id: OMIM:266500
disease_name: REFSUM DISEASE, CLASSIC
gene_symbol: PEX7
disease_id: OMIM:215100
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
gene_symbol: PHYH
disease_id: OMIM:266500
disease_name: REFSUM DISEASE, CLASSIC
gene_symbol: PEX10
disease_id: ORPHA:247815
disease_name: Autosomal recessive ataxia due to PEX10 deficiency
Mild peroxisomal disorder due to PEX10 deficiency
gene_symbol: SCP2
disease_id: OMIM:613724
disease_name: LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY