Disease table of REFSUM DISEASE, CLASSIC OMIM ID: 266500

Gene-disease associations table

GeneAssociated with REFSUM DISEASE, CLASSIC inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PEX7ClinVarHGNC link6q23.33PS214100, 266500, PS215100
PHYHOMIM, HUMSAVARHGNC link10p131266500

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PEX7PHYHYes0

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
PEX7PHYHYesbinding0

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Peroxisomehsa041466.342PHYH, PEX7

NET-GE enrichment

Term New enriched termICP valueGenes
Transport and catabolismNEW3.490.032PHYH, PEX7
Peroxisome (hsa04146) -6.340.001PHYH, PEX7
REACTOME pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Peroxisomal lipid metabolism (R-HSA-390918) NEW8.590.0PHYH, PEX7
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182PHYH, PEX7
protein binding (GO:0005515) 0.462PHYH, PEX7

NET-GE enrichment

Term New enriched termICP valueGenes
peptide binding (GO:0042277) NEW4.220.036PHYH, PEX7
organic acid binding (GO:0043177) NEW6.60.032PHYH, PEX7
amide binding (GO:0033218) NEW4.140.036PHYH, PEX7
carboxylic acid binding (GO:0031406) NEW4.640.031PHYH, PEX7
cofactor binding (GO:0048037) NEW4.160.047PHYH, PEX7
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
lipid oxidation (GO:0034440) 5.472PHYH, PEX7
fatty acid metabolic process (GO:0006631) 4.032PHYH, PEX7
carboxylic acid metabolic process (GO:0019752) 3.122PHYH, PEX7
cellular catabolic process (GO:0044248) 2.622PHYH, PEX7
fatty acid catabolic process (GO:0009062) 5.482PHYH, PEX7
small molecule metabolic process (GO:0044281) 2.382PHYH, PEX7
small molecule catabolic process (GO:0044282) 3.992PHYH, PEX7
cellular lipid catabolic process (GO:0044242) 4.732PHYH, PEX7
single-organism process (GO:0044699) 0.482PHYH, PEX7
single-organism catabolic process (GO:0044712) 3.212PHYH, PEX7
single-organism metabolic process (GO:0044710) 1.632PHYH, PEX7
catabolic process (GO:0009056) 2.382PHYH, PEX7
lipid catabolic process (GO:0016042) 4.212PHYH, PEX7
organic substance metabolic process (GO:0071704) 0.632PHYH, PEX7
lipid metabolic process (GO:0006629) 2.682PHYH, PEX7
cellular process (GO:0009987) 0.262PHYH, PEX7
organic substance catabolic process (GO:1901575) 2.452PHYH, PEX7
monocarboxylic acid metabolic process (GO:0032787) 3.572PHYH, PEX7
single-organism cellular process (GO:0044763) 0.652PHYH, PEX7
metabolic process (GO:0008152) 0.582PHYH, PEX7
monocarboxylic acid catabolic process (GO:0072329) 5.262PHYH, PEX7
oxoacid metabolic process (GO:0043436) 3.122PHYH, PEX7
fatty acid oxidation (GO:0019395) 5.482PHYH, PEX7
cellular lipid metabolic process (GO:0044255) 2.922PHYH, PEX7
lipid modification (GO:0030258) 4.372PHYH, PEX7
oxidation-reduction process (GO:0055114) 2.912PHYH, PEX7
primary metabolic process (GO:0044238) 0.692PHYH, PEX7
organic acid metabolic process (GO:0006082) 3.012PHYH, PEX7
carboxylic acid catabolic process (GO:0046395) 4.582PHYH, PEX7
organic acid catabolic process (GO:0016054) 4.442PHYH, PEX7
cellular metabolic process (GO:0044237) 0.692PHYH, PEX7

NET-GE enrichment

Term New enriched termICP valueGenes
lipid oxidation (GO:0034440) -5.470.006PHYH, PEX7
fatty acid metabolic process (GO:0006631) -4.030.02PHYH, PEX7
fatty acid catabolic process (GO:0009062) -5.480.006PHYH, PEX7
ossification (GO:0001503) NEW4.860.044PHYH, PEX7
small molecule catabolic process (GO:0044282) -3.990.018PHYH, PEX7
cellular lipid catabolic process (GO:0044242) -4.730.031PHYH, PEX7
fatty acid alpha-oxidation (GO:0001561) NEW7.780.0PHYH, PEX7
protein transmembrane transport (GO:0071806) NEW5.80.001PHYH, PEX7
lipid catabolic process (GO:0016042) -4.210.014PHYH, PEX7
intracellular protein transmembrane transport (GO:0065002) NEW5.940.001PHYH, PEX7
intracellular protein transmembrane import (GO:0044743) NEW6.120.0PHYH, PEX7
protein import (GO:0017038) NEW4.850.017PHYH, PEX7
monocarboxylic acid catabolic process (GO:0072329) -5.260.01PHYH, PEX7
fatty acid oxidation (GO:0019395) -5.480.006PHYH, PEX7
lipid modification (GO:0030258) -4.370.029PHYH, PEX7
replacement ossification (GO:0036075) NEW6.470.002PHYH, PEX7
endochondral ossification (GO:0001958) NEW6.470.002PHYH, PEX7
carboxylic acid catabolic process (GO:0046395) -4.580.01PHYH, PEX7
organic acid catabolic process (GO:0016054) -4.440.01PHYH, PEX7
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
peroxisomal matrix (GO:0005782) 6.02PHYH, PEX7
intracellular membrane-bounded organelle (GO:0043231) 0.62PHYH, PEX7
organelle lumen (GO:0043233) 3.052PHYH, PEX7
peroxisome (GO:0005777) 5.012PHYH, PEX7
cell part (GO:0044464) 0.112PHYH, PEX7
cytoplasmic part (GO:0044444) 0.822PHYH, PEX7
membrane-enclosed lumen (GO:0031974) 3.052PHYH, PEX7
intracellular organelle part (GO:0044446) 0.812PHYH, PEX7
microbody (GO:0042579) 4.932PHYH, PEX7
intracellular organelle (GO:0043229) 0.512PHYH, PEX7
intracellular organelle lumen (GO:0070013) 3.052PHYH, PEX7
microbody lumen (GO:0031907) 6.02PHYH, PEX7
intracellular part (GO:0044424) 0.282PHYH, PEX7
peroxisomal part (GO:0044439) 5.282PHYH, PEX7
microbody part (GO:0044438) 5.282PHYH, PEX7
membrane-bounded organelle (GO:0043227) 0.472PHYH, PEX7
organelle (GO:0043226) 0.42PHYH, PEX7
organelle part (GO:0044422) 0.792PHYH, PEX7

NET-GE enrichment

Term New enriched termICP valueGenes
peroxisomal matrix (GO:0005782) -6.00.0PHYH, PEX7
organelle lumen (GO:0043233) -3.050.023PHYH, PEX7
peroxisome (GO:0005777) -5.010.001PHYH, PEX7
membrane-enclosed lumen (GO:0031974) -3.050.028PHYH, PEX7
microbody (GO:0042579) -4.930.001PHYH, PEX7
intracellular organelle lumen (GO:0070013) -3.050.019PHYH, PEX7
microbody lumen (GO:0031907) -6.00.0PHYH, PEX7
peroxisomal part (GO:0044439) -5.280.001PHYH, PEX7
microbody part (GO:0044438) -5.280.001PHYH, PEX7