Functional categories by diseases

FUNCTIONAL CATEGORY	DISEASE
ABC transporters	Contiguous ABCD1/DXS1375E deletion syndrome X-linked adrenoleukodystrophy
Alpha-oxidation	Refsum disease
Antiinflammatory-antimicrobial	No disease found
Antioxidant	Acatalasemia Amyotrophic lateral sclerosis, ALS1
Biosynthesis of cysteine and sulfur assimilation	No disease found
Branched chain fatty acid beta-oxidation	Acyl-CoA oxidase deficiency (Pseudoneonatal adrenoleukodystrophy) Bifunctional protein deficiency
Branched chain fatty acid oxidation	Acyl-CoA oxidase deficiency (Pseudoneonatal adrenoleukodystrophy) Adult-onset sensory motor neuropathy Bifunctional protein deficiency Refsum disease
Carbohydrate Metabolism	Hyperoxaluria type I
Catalase	Acatalasemia
D-amino acid degradation	No disease found
Di- trihydroxycholestanoic acid beta-oxidation	Acyl-CoA oxidase deficiency (Pseudoneonatal adrenoleukodystrophy) Bifunctional protein deficiency
Di- trihydroxycholestanoic acid oxidation/Bile acid synthesis	Acyl-CoA oxidase deficiency (Pseudoneonatal adrenoleukodystrophy) Adult-onset sensory motor neuropathy Bifunctional protein deficiency Contiguous ABCD1/DXS1375E deletion syndrome X-linked adrenoleukodystrophy
Epoxide/Isochorismatase hydrolases	No disease found
Etherlipid and plasmalogens synthesis	Rhizomelic chondrodysplasia punctata type 2 (RCDP2) Rhizomelic chondrodysplasia punctata type 3 (RCDP3)
Fatty acid chain elongation	No disease found
Fatty acid oxidation	Acyl-CoA oxidase deficiency (Pseudoneonatal adrenoleukodystrophy) Adult-onset sensory motor neuropathy Bifunctional protein deficiency Contiguous ABCD1/DXS1375E deletion syndrome Malonic aciduria X-linked adrenoleukodystrophy
Fatty acid synthesis/PUFAS synthesis	Acyl-CoA oxidase deficiency (Pseudoneonatal adrenoleukodystrophy) Bifunctional protein deficiency Contiguous ABCD1/DXS1375E deletion syndrome X-linked adrenoleukodystrophy
Gluthatione peroxidase/Thioredoxin	No disease found
Glycerol metabolism	No disease found
Glycolysis and biosynthesis of sugar nucleotides	No disease found
Glycosyl hydrolases	No disease found
Glyoxylate and dicarboxylate metabolism	No disease found
Isoprenoid metabolism	No disease found
Jasmonic metabolism	No disease found
L-Lysine metabolism	No disease found
Lipid metabolism	Contiguous ABCD1/DXS1375E deletion syndrome Malonic aciduria Mental retardation X-linked 63, MRX63 Rhizomelic chondrodysplasia punctata type 2 (RCDP2) Rhizomelic chondrodysplasia punctata type 3 (RCDP3) X-linked adrenoleukodystrophy
Long-chain dicarboxylic acids oxidation	Acyl-CoA oxidase deficiency (Pseudoneonatal adrenoleukodystrophy) Bifunctional protein deficiency
Long/very long fatty acids activation	Mental retardation X-linked 63, MRX63
Metabolism	Hyperoxaluria type I Xanthinuria
Nicotinate and nicotinamide metabolism	No disease found
Pentose-phosphate pathway	No disease found
Peroxiredoxin	No disease found
Peroxisomal AAA-ATPases	Infantile Refsum disease Neonatal adrenoleukodystrophy Zellweger syndrome
Peroxisomal membrane proteins (PMP)	Contiguous ABCD1/DXS1375E deletion syndrome Glomerulosclerosis X-linked adrenoleukodystrophy
Peroxisome biogenesis (peroxins)	Infantile Refsum disease Neonatal adrenoleukodystrophy Refsum disease Rhizomelic chondrodysplasia punctata type 1 (RCDP1 ) Zellweger syndrome
Peroxisome division-proliferation	No disease found
Peroxisome docking	Neonatal adrenoleukodystrophy Zellweger syndrome
Peroxisome matrix protein import	Infantile Refsum disease Neonatal adrenoleukodystrophy Zellweger syndrome
Peroxisome membrane assembly	Neonatal adrenoleukodystrophy Zellweger syndrome
Peroxisome organization	No disease found
Peroxisome targeting sequence binding	Infantile Refsum disease Neonatal adrenoleukodystrophy Refsum disease Rhizomelic chondrodysplasia punctata type 1 (RCDP1 ) Zellweger syndrome
Photorespiration	No disease found
Polyamines degradation	No disease found
Proteases	No disease found
Protein kinases	No disease found
Protein/amino acid metabolism	Hyperoxaluria type I
Purines and pyrimidines	Xanthinuria
PXMP 2/4 family proteins	Glomerulosclerosis
PXMP 34 family proteins	No disease found
Regulation of acyl-CoA/CoA ratio	No disease found
Retinoid metabolism	No disease found
Straight chain fatty acids beta-oxidation	Acyl-CoA oxidase deficiency (Pseudoneonatal adrenoleukodystrophy) Bifunctional protein deficiency
Straight chain fatty acids oxidation	Acyl-CoA oxidase deficiency (Pseudoneonatal adrenoleukodystrophy) Bifunctional protein deficiency Contiguous ABCD1/DXS1375E deletion syndrome X-linked adrenoleukodystrophy
Superoxide dismutase	Amyotrophic lateral sclerosis, ALS1
Transaminases	Hyperoxaluria type I
Unknown	Mulibrey nanism
Unsaturated fatty acid beta-oxidation	Acyl-CoA oxidase deficiency (Pseudoneonatal adrenoleukodystrophy) Bifunctional protein deficiency
ZN RING proteins	Infantile Refsum disease Neonatal adrenoleukodystrophy Zellweger syndrome