Disease table of RHIZOMELIC CHONDRODYSPLASIA PUNCTATA OMIM ID: PS215100

Gene-disease associations table

GeneAssociated with RHIZOMELIC CHONDRODYSPLASIA PUNCTATA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
AGPSClinVar, OMIM, HUMSAVARHGNC link2q31.21PS215100
PEX5ClinVar, OMIMHGNC link12p13.312PS214100, PS215100
PEX7ClinVar, OMIM, HUMSAVARHGNC link6q23.33PS214100, 266500, PS215100
GNPATClinVar, OMIM, HUMSAVARHGNC link1q42.21PS215100

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
AGPSPEX5Yes4GNPAT, PEX14, SCP2, CCDC8
AGPSPEX7No2PEX14, PEX5
AGPSGNPATYes3NTRK1, PEX14, PEX5
PEX5PEX7Yes3ACAA1, PEX14, PEX13
PEX5GNPATYes3AGPS, PEX14, XPO1
PEX7GNPATNo2PEX14, PEX5

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
AGPSPEX5Yesbinding2UBC, GNPAT
AGPSPEX7No-1PEX5
AGPSGNPATYesbinding2UBC, PEX5
PEX5PEX7Yesbinding2PEX14, PEX13
PEX5GNPATYesbinding2UBC, AGPS
PEX7GNPATNo-1PEX5

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

Interactions from CORUM
Gene1Gene2Direct InteractionComplexesNumber of shared interactorsShared genes in interaction
AGPSGNPATYesAGPS-GNPAT complex0

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

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
Peroxisomehsa041466.344AGPS, GNPAT, PEX7, PEX5

NET-GE enrichment

Term New enriched termICP valueGenes
Cellular ProcessesNEW2.220.021AGPS, GNPAT, PEX7, PEX5
alpha-Linolenic acid metabolism (hsa00592) NEW8.120.004PEX7, PEX5
Fatty acid degradation (hsa00071) NEW7.150.014PEX7, PEX5
PPAR signaling pathway (hsa03320) NEW6.560.048PEX7, PEX5
Lipid metabolismNEW4.160.003AGPS, GNPAT, PEX7, PEX5
Transport and catabolismNEW3.490.001AGPS, GNPAT, PEX7, PEX5
Peroxisome (hsa04146) -6.340.0AGPS, GNPAT, PEX7, PEX5
Fatty acid metabolism (hsa01212) NEW7.070.013PEX7, PEX5
Biosynthesis of unsaturated fatty acids (hsa01040) NEW8.380.002PEX7, PEX5
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Metabolism of lipids and lipoproteinsR-HSA-5568333.792AGPS, GNPAT
MetabolismR-HSA-14307282.342AGPS, GNPAT
Peroxisomal lipid metabolismR-HSA-3909188.592AGPS, GNPAT
Plasmalogen biosynthesisR-HSA-7589610.982AGPS, GNPAT

NET-GE enrichment

Term New enriched termICP valueGenes
Peroxisomal lipid metabolism (R-HSA-390918) -8.590.0AGPS, GNPAT, PEX7, PEX5
alpha-linolenic acid (ALA) metabolism (R-HSA-2046106) NEW9.280.001PEX7, PEX5
alpha-linolenic (omega3) and linoleic (omega6) acid metabolism (R-HSA-2046104) NEW9.280.001PEX7, PEX5
Beta-oxidation of very long chain fatty acids (R-HSA-390247) NEW10.40.0PEX7, PEX5
Metabolism of lipids and lipoproteins (R-HSA-556833) -3.790.042AGPS, GNPAT, PEX7, PEX5
Plasmalogen biosynthesis (R-HSA-75896) -10.980.0AGPS, GNPAT
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.184AGPS, GNPAT, PEX7, PEX5
protein binding (GO:0005515) 0.464AGPS, GNPAT, PEX7, PEX5
peptide binding (GO:0042277) 4.222PEX7, PEX5
signal sequence binding (GO:0005048) 6.072PEX7, PEX5
peroxisome targeting sequence binding (GO:0000268) 8.132PEX7, PEX5
amide binding (GO:0033218) 4.142PEX7, PEX5
enzyme binding (GO:0019899) 2.272PEX7, PEX5
catalytic activity (GO:0003824) 1.052AGPS, GNPAT
transferase activity (GO:0016740) 1.952AGPS, GNPAT

NET-GE enrichment

Term New enriched termICP valueGenes
flavin adenine dinucleotide binding (GO:0050660) NEW5.410.044AGPS, PEX5
peptide binding (GO:0042277) -4.220.047PEX7, PEX5
signal sequence binding (GO:0005048) -6.070.003PEX7, PEX5
peroxisome targeting sequence binding (GO:0000268) -8.130.0PEX7, PEX5
amide binding (GO:0033218) -4.140.049PEX7, PEX5
oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627) NEW5.660.025PEX7, PEX5
cofactor binding (GO:0048037) NEW4.160.0AGPS, GNPAT, PEX7, PEX5
oxidoreductase activity, acting on the CH-CH group of donors, oxygen as acceptor (GO:0016634) NEW7.540.0PEX7, PEX5
FAD binding (GO:0071949) NEW7.030.001AGPS, PEX5
oxidoreductase activity (GO:0016491) NEW3.120.013AGPS, GNPAT, PEX7, PEX5
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
primary metabolic process (GO:0044238) 0.694AGPS, GNPAT, PEX7, PEX5
single-organism metabolic process (GO:0044710) 1.634AGPS, GNPAT, PEX7, PEX5
lipid metabolic process (GO:0006629) 2.684AGPS, GNPAT, PEX7, PEX5
cellular process (GO:0009987) 0.264AGPS, GNPAT, PEX7, PEX5
cellular metabolic process (GO:0044237) 0.694AGPS, GNPAT, PEX7, PEX5
organic substance metabolic process (GO:0071704) 0.634AGPS, GNPAT, PEX7, PEX5
single-organism cellular process (GO:0044763) 0.654AGPS, GNPAT, PEX7, PEX5
small molecule metabolic process (GO:0044281) 2.384AGPS, GNPAT, PEX7, PEX5
metabolic process (GO:0008152) 0.584AGPS, GNPAT, PEX7, PEX5
cellular lipid metabolic process (GO:0044255) 2.924AGPS, GNPAT, PEX7, PEX5
single-organism process (GO:0044699) 0.484AGPS, GNPAT, PEX7, PEX5
organic substance biosynthetic process (GO:1901576) 1.343AGPS, GNPAT, PEX7
single-organism biosynthetic process (GO:0044711) 2.83AGPS, GNPAT, PEX7
cellular lipid biosynthetic process (GO:0097384) 8.343AGPS, GNPAT, PEX7
cellular biosynthetic process (GO:0044249) 1.373AGPS, GNPAT, PEX7
ether lipid biosynthetic process (GO:0008611) 8.343AGPS, GNPAT, PEX7
ether metabolic process (GO:0018904) 7.163AGPS, GNPAT, PEX7
cellular component organization (GO:0016043) 1.243GNPAT, PEX7, PEX5
ether biosynthetic process (GO:1901503) 8.343AGPS, GNPAT, PEX7
biosynthetic process (GO:0009058) 1.323AGPS, GNPAT, PEX7
oxidation-reduction process (GO:0055114) 2.913AGPS, PEX7, PEX5
ether lipid metabolic process (GO:0046485) 7.943AGPS, GNPAT, PEX7
glycerol ether biosynthetic process (GO:0046504) 8.343AGPS, GNPAT, PEX7
glycerol ether metabolic process (GO:0006662) 7.333AGPS, GNPAT, PEX7
cellular component organization or biogenesis (GO:0071840) 1.223GNPAT, PEX7, PEX5
lipid biosynthetic process (GO:0008610) 3.493AGPS, GNPAT, PEX7
lipid oxidation (GO:0034440) 5.472PEX7, PEX5
fatty acid metabolic process (GO:0006631) 4.032PEX7, PEX5
protein localization (GO:0008104) 2.362PEX7, PEX5
fatty acid beta-oxidation (GO:0006635) 5.782PEX7, PEX5
establishment of protein localization to peroxisome (GO:0072663) 7.022PEX7, PEX5
protein localization to peroxisome (GO:0072662) 7.022PEX7, PEX5
establishment of localization in cell (GO:0051649) 2.472PEX7, PEX5
carboxylic acid metabolic process (GO:0019752) 3.122PEX7, PEX5
movement of cell or subcellular component (GO:0006928) 2.612PEX7, PEX5
cellular catabolic process (GO:0044248) 2.622PEX7, PEX5
fatty acid catabolic process (GO:0009062) 5.482PEX7, PEX5
cellular component assembly (GO:0022607) 2.142GNPAT, PEX5
neuron migration (GO:0001764) 5.02PEX7, PEX5
small molecule catabolic process (GO:0044282) 3.992PEX7, PEX5
cellular lipid catabolic process (GO:0044242) 4.732PEX7, PEX5
single-organism catabolic process (GO:0044712) 3.212PEX7, PEX5
organic substance catabolic process (GO:1901575) 2.452PEX7, PEX5
localization (GO:0051179) 1.42PEX7, PEX5
protein transmembrane transport (GO:0071806) 5.82PEX7, PEX5
cellular macromolecule localization (GO:0070727) 3.12PEX7, PEX5
catabolic process (GO:0009056) 2.382PEX7, PEX5
intracellular protein transport (GO:0006886) 3.22PEX7, PEX5
cellular localization (GO:0051641) 2.322PEX7, PEX5
lipid catabolic process (GO:0016042) 4.212PEX7, PEX5
intracellular protein transmembrane transport (GO:0065002) 5.942PEX7, PEX5
protein targeting (GO:0006605) 4.082PEX7, PEX5
intracellular protein transmembrane import (GO:0044743) 6.122PEX7, PEX5
establishment of protein localization to organelle (GO:0072594) 3.922PEX7, PEX5
macromolecule localization (GO:0033036) 2.342PEX7, PEX5
cellular protein localization (GO:0034613) 3.112PEX7, PEX5
developmental process (GO:0032502) 1.362GNPAT, PEX5
organelle organization (GO:0006996) 2.022PEX7, PEX5
protein import (GO:0017038) 4.852PEX7, PEX5
protein targeting to peroxisome (GO:0006625) 7.022PEX7, PEX5
multicellular organismal process (GO:0032501) 1.452PEX7, PEX5
transport (GO:0006810) 1.512PEX7, PEX5
monocarboxylic acid metabolic process (GO:0032787) 3.572PEX7, PEX5
establishment of protein localization (GO:0045184) 2.532PEX7, PEX5
protein transport (GO:0015031) 2.622PEX7, PEX5
single-organism transport (GO:0044765) 2.182PEX7, PEX5
peroxisome organization (GO:0007031) 6.472PEX7, PEX5
organic substance transport (GO:0071702) 2.152PEX7, PEX5
monocarboxylic acid catabolic process (GO:0072329) 5.262PEX7, PEX5
oxoacid metabolic process (GO:0043436) 3.122PEX7, PEX5
fatty acid oxidation (GO:0019395) 5.482PEX7, PEX5
establishment of localization (GO:0051234) 1.482PEX7, PEX5
lipid modification (GO:0030258) 4.372PEX7, PEX5
transmembrane transport (GO:0055085) 2.722PEX7, PEX5
single-organism localization (GO:1902578) 2.092PEX7, PEX5
peroxisomal transport (GO:0043574) 6.962PEX7, PEX5
locomotion (GO:0040011) 2.912PEX7, PEX5
single-organism developmental process (GO:0044767) 1.492GNPAT, PEX5
cell migration (GO:0016477) 3.122PEX7, PEX5
organic acid metabolic process (GO:0006082) 3.012PEX7, PEX5
intracellular transport (GO:0046907) 2.672PEX7, PEX5
cell motility (GO:0048870) 3.022PEX7, PEX5
carboxylic acid catabolic process (GO:0046395) 4.582PEX7, PEX5
organic acid catabolic process (GO:0016054) 4.442PEX7, PEX5
protein import into peroxisome matrix (GO:0016558) 7.432PEX7, PEX5
single-organism organelle organization (GO:1902589) 2.682PEX7, PEX5
membrane organization (GO:0061024) 3.042GNPAT, PEX5
protein localization to organelle (GO:0033365) 3.572PEX7, PEX5
single-organism intracellular transport (GO:1902582) 3.592PEX7, PEX5
single-organism cellular localization (GO:1902580) 3.162PEX7, PEX5

NET-GE enrichment

Term New enriched termICP valueGenes
lipid oxidation (GO:0034440) -5.470.013PEX7, PEX5
fatty acid beta-oxidation (GO:0006635) -5.780.007PEX7, PEX5
establishment of protein localization to peroxisome (GO:0072663) -7.020.004PEX7, PEX5
ether metabolic process (GO:0018904) -7.160.0AGPS, GNPAT, PEX7, PEX5
monocarboxylic acid catabolic process (GO:0072329) -5.260.021PEX7, PEX5
fatty acid catabolic process (GO:0009062) -5.480.013PEX7, PEX5
neuron migration (GO:0001764) -5.00.043PEX7, PEX5
fatty acid oxidation (GO:0019395) -5.480.012PEX7, PEX5
alpha-linolenic acid metabolic process (GO:0036109) NEW7.160.002PEX7, PEX5
protein transmembrane transport (GO:0071806) -5.80.032PEX7, PEX5
intracellular protein transmembrane transport (GO:0065002) -5.940.018PEX7, PEX5
fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540) NEW7.160.002PEX7, PEX5
ether lipid biosynthetic process (GO:0008611) -8.340.0AGPS, GNPAT, PEX7, PEX5
glycerol ether biosynthetic process (GO:0046504) -8.340.0AGPS, GNPAT, PEX7, PEX5
glycerol ether metabolic process (GO:0006662) -7.330.0AGPS, GNPAT, PEX7, PEX5
lipid biosynthetic process (GO:0008610) -3.490.01AGPS, GNPAT, PEX7, PEX5
lipid metabolic process (GO:0006629) -2.680.002AGPS, GNPAT, PEX7, PEX5
protein targeting to peroxisome (GO:0006625) -7.020.004PEX7, PEX5
protein import (GO:0017038) -4.850.033PEX7, PEX5
replacement ossification (GO:0036075) NEW6.470.035PEX7, PEX5
very long-chain fatty acid metabolic process (GO:0000038) NEW6.330.009PEX7, PEX5
ether lipid metabolic process (GO:0046485) -7.940.0AGPS, GNPAT, PEX7, PEX5
cellular lipid metabolic process (GO:0044255) -2.920.001AGPS, GNPAT, PEX7, PEX5
intracellular protein transmembrane import (GO:0044743) -6.120.01PEX7, PEX5
peroxisomal transport (GO:0043574) -6.960.001PEX7, PEX5
peroxisome organization (GO:0007031) -6.470.006PEX7, PEX5
cellular lipid biosynthetic process (GO:0097384) -8.340.0AGPS, GNPAT, PEX7, PEX5
endochondral ossification (GO:0001958) NEW6.470.035PEX7, PEX5
protein import into peroxisome matrix (GO:0016558) -7.430.0PEX7, PEX5
ether biosynthetic process (GO:1901503) -8.340.0AGPS, GNPAT, PEX7, PEX5
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
peroxisomal matrix (GO:0005782) 6.04AGPS, GNPAT, PEX7, PEX5
intracellular membrane-bounded organelle (GO:0043231) 0.64AGPS, GNPAT, PEX7, PEX5
organelle lumen (GO:0043233) 3.054AGPS, GNPAT, PEX7, PEX5
cell part (GO:0044464) 0.114AGPS, GNPAT, PEX7, PEX5
peroxisome (GO:0005777) 5.014AGPS, GNPAT, PEX7, PEX5
cytoplasmic part (GO:0044444) 0.824AGPS, GNPAT, PEX7, PEX5
membrane-enclosed lumen (GO:0031974) 3.054AGPS, GNPAT, PEX7, PEX5
intracellular organelle part (GO:0044446) 0.814AGPS, GNPAT, PEX7, PEX5
microbody (GO:0042579) 4.934AGPS, GNPAT, PEX7, PEX5
intracellular organelle (GO:0043229) 0.514AGPS, GNPAT, PEX7, PEX5
intracellular organelle lumen (GO:0070013) 3.054AGPS, GNPAT, PEX7, PEX5
microbody lumen (GO:0031907) 6.04AGPS, GNPAT, PEX7, PEX5
intracellular part (GO:0044424) 0.284AGPS, GNPAT, PEX7, PEX5
peroxisomal part (GO:0044439) 5.284AGPS, GNPAT, PEX7, PEX5
microbody part (GO:0044438) 5.284AGPS, GNPAT, PEX7, PEX5
membrane-bounded organelle (GO:0043227) 0.474AGPS, GNPAT, PEX7, PEX5
organelle (GO:0043226) 0.44AGPS, GNPAT, PEX7, PEX5
organelle part (GO:0044422) 0.794AGPS, GNPAT, PEX7, PEX5
peroxisomal membrane (GO:0005778) 5.763AGPS, GNPAT, PEX5
organelle membrane (GO:0031090) 1.973AGPS, GNPAT, PEX5
whole membrane (GO:0098805) 2.853AGPS, GNPAT, PEX5
membrane (GO:0016020) 0.683AGPS, GNPAT, PEX5
mitochondrion (GO:0005739) 2.423AGPS, GNPAT, PEX5
microbody membrane (GO:0031903) 5.763AGPS, GNPAT, PEX5
bounding membrane of organelle (GO:0098588) 2.393AGPS, GNPAT, PEX5
cytoplasm (GO:0005737) 1.012PEX7, PEX5
cytosol (GO:0005829) 1.682PEX7, PEX5

NET-GE enrichment

Term New enriched termICP valueGenes
peroxisomal membrane (GO:0005778) -5.760.0AGPS, GNPAT, PEX5
peroxisomal matrix (GO:0005782) -6.00.0AGPS, GNPAT, PEX7, PEX5
microbody (GO:0042579) -4.930.0AGPS, GNPAT, PEX7, PEX5
organelle lumen (GO:0043233) -3.050.0AGPS, GNPAT, PEX7, PEX5
peroxisome (GO:0005777) -5.010.0AGPS, GNPAT, PEX7, PEX5
membrane-enclosed lumen (GO:0031974) -3.050.011AGPS, GNPAT, PEX7, PEX5
intracellular organelle lumen (GO:0070013) -3.050.0AGPS, GNPAT, PEX7, PEX5
mitochondrion (GO:0005739) -2.420.038AGPS, GNPAT, PEX5
microbody lumen (GO:0031907) -6.00.0AGPS, GNPAT, PEX7, PEX5
peroxisomal part (GO:0044439) -5.280.0AGPS, GNPAT, PEX7, PEX5
microbody part (GO:0044438) -5.280.0AGPS, GNPAT, PEX7, PEX5
microbody membrane (GO:0031903) -5.760.0AGPS, GNPAT, PEX5