Disease table of HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME OMIM ID: PS239300

Gene-disease associations table

GeneAssociated with HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PGAP3ClinVar, OMIM, HUMSAVARHGNC link17q121PS239300
PGAP2ClinVar, OMIM, HUMSAVARHGNC link11p15.41PS239300
PIGOClinVar, OMIM, HUMSAVARHGNC link9p13.31PS239300
PIGVClinVar, OMIM, HUMSAVARHGNC link1p36.111PS239300
PIGWClinVar, OMIM, HUMSAVARHGNC link17q121PS239300
PIGYClinVar, OMIMHGNC link4q22.11PS239300

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
17q122PGAP3, PIGW
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
17q122PGAP3, PIGW
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
17q12PGAP3, PIGW
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
17q2PGAP3, PIGW
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
172PGAP3, PIGW
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
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
Glycosylphosphatidylinositol(GPI)-anchor biosynthesishsa005638.074PIGY, PIGV, PIGW, PIGO
Metabolic pathwayshsa011002.494PIGY, PIGV, PIGW, PIGO

NET-GE enrichment

Term New enriched termICP valueGenes
Glycosylphosphatidylinositol(GPI)-anchor biosynthesis (hsa00563) -8.070.0PIGY, PIGV, PIGW, PIGO
Global and overview mapsNEW2.470.006PIGY, PIGW, PIGV, PIGO
Metabolic pathways (hsa01100) -2.490.006PIGY, PIGV, PIGW, PIGO
Glycan biosynthesis and metabolismNEW4.780.0PIGY, PIGW, PIGV, PIGO
MetabolismNEW2.060.02PIGY, PIGV, PIGW, PIGO
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Post-translational modification: synthesis of GPI-anchored proteinsR-HSA-1631258.283PIGV, PIGW, PIGO
Post-translational protein modificationR-HSA-5975924.543PIGV, PIGO, PIGW
Metabolism of proteinsR-HSA-3924993.413PIGV, PIGW, PIGO
Synthesis of glycosylphosphatidylinositol (GPI)R-HSA-1627108.893PIGV, PIGO, PIGW

NET-GE enrichment

Term New enriched termICP valueGenes
Post-translational modification: synthesis of GPI-anchored proteins (R-HSA-163125) -8.280.0PIGV, PIGW, PIGO
Synthesis of glycosylphosphatidylinositol (GPI) (R-HSA-162710) -8.890.0PIGV, PIGO, PIGW
Metabolism of proteins (R-HSA-392499) -3.410.025PIGV, PIGO, PIGW
Post-translational protein modification (R-HSA-597592) -4.540.0PIGV, PIGO, PIGW
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.054PGAP3, PIGW, PIGV, PIGO
transferase activity (GO:0016740) 1.953PIGV, PIGW, PIGO
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
glycerophospholipid metabolic process (GO:0006650) 4.136PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
cellular biosynthetic process (GO:0044249) 1.376PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
cellular lipid metabolic process (GO:0044255) 2.926PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
single-organism process (GO:0044699) 0.486PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
membrane lipid metabolic process (GO:0006643) 4.516PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
organic substance biosynthetic process (GO:1901576) 1.346PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
single-organism metabolic process (GO:0044710) 1.636PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
single-organism biosynthetic process (GO:0044711) 2.86PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
cellular macromolecule metabolic process (GO:0044260) 0.936PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
organic substance metabolic process (GO:0071704) 0.636PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
GPI anchor metabolic process (GO:0006505) 6.236PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
GPI anchor biosynthetic process (GO:0006506) 6.266PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
membrane lipid biosynthetic process (GO:0046467) 4.996PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
glycolipid metabolic process (GO:0006664) 5.016PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
liposaccharide metabolic process (GO:1903509) 4.986PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
phospholipid metabolic process (GO:0006644) 3.886PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
lipid metabolic process (GO:0006629) 2.686PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
glycerolipid biosynthetic process (GO:0045017) 4.536PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
cellular process (GO:0009987) 0.266PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
glycolipid biosynthetic process (GO:0009247) 5.66PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
cellular protein metabolic process (GO:0044267) 1.636PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
macromolecule modification (GO:0043412) 1.736PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
protein modification process (GO:0036211) 1.796PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
phosphatidylinositol metabolic process (GO:0046488) 4.466PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
cellular protein modification process (GO:0006464) 1.796PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
metabolic process (GO:0008152) 0.586PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
phosphatidylinositol biosynthetic process (GO:0006661) 4.946PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
glycerolipid metabolic process (GO:0046486) 3.916PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
organophosphate biosynthetic process (GO:0090407) 3.676PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
lipid biosynthetic process (GO:0008610) 3.496PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
protein lipidation (GO:0006497) 5.386PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
primary metabolic process (GO:0044238) 0.696PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
phospholipid biosynthetic process (GO:0008654) 4.396PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
protein metabolic process (GO:0019538) 1.456PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
carbohydrate derivative metabolic process (GO:1901135) 3.076PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
single-organism cellular process (GO:0044763) 0.656PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
biosynthetic process (GO:0009058) 1.326PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
cellular metabolic process (GO:0044237) 0.696PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
macromolecule metabolic process (GO:0043170) 0.836PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
carbohydrate derivative biosynthetic process (GO:1901137) 3.736PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
phosphate-containing compound metabolic process (GO:0006796) 2.166PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
phosphorus metabolic process (GO:0006793) 2.156PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
organophosphate metabolic process (GO:0019637) 3.046PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
glycerophospholipid biosynthetic process (GO:0046474) 4.626PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
macromolecule localization (GO:0033036) 2.342PGAP2, PIGW
protein localization (GO:0008104) 2.362PGAP2, PIGW
preassembly of GPI anchor in ER membrane (GO:0016254) 7.022PIGV, PIGW
localization (GO:0051179) 1.42PGAP2, PIGW

NET-GE enrichment

Term New enriched termICP valueGenes
C-terminal protein amino acid modification (GO:0018410) NEW7.090.0PIGV, PIGO, PIGW
glycerophospholipid metabolic process (GO:0006650) -4.130.0PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
cellular lipid metabolic process (GO:0044255) -2.920.0PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
membrane lipid metabolic process (GO:0006643) -4.510.0PIGY, PGAP2, PGAP3, PIGV, PIGO
glycerolipid biosynthetic process (GO:0045017) -4.530.0PIGY, PGAP2, PGAP3, PIGV, PIGO
single-organism metabolic process (GO:0044710) -1.630.033PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
single-organism biosynthetic process (GO:0044711) -2.80.001PIGY, PGAP2, PGAP3, PIGV, PIGO
C-terminal protein lipidation (GO:0006501) NEW7.780.0PIGV, PIGW, PIGO
GPI anchor metabolic process (GO:0006505) -6.230.0PIGY, PGAP2, PGAP3, PIGV, PIGO
GPI anchor biosynthetic process (GO:0006506) -6.260.0PIGY, PGAP2, PGAP3, PIGV, PIGO
membrane lipid biosynthetic process (GO:0046467) -4.990.0PIGY, PGAP2, PGAP3, PIGV, PIGO
glycolipid metabolic process (GO:0006664) -5.010.0PIGY, PGAP2, PGAP3, PIGV, PIGO
phospholipid metabolic process (GO:0006644) -3.880.0PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
lipid metabolic process (GO:0006629) -2.680.001PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
cellular protein metabolic process (GO:0044267) -1.630.002PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
post-translational protein modification (GO:0043687) NEW6.170.01PIGV, PIGO, PIGW
glycolipid biosynthetic process (GO:0009247) -5.60.0PIGY, PGAP2, PGAP3, PIGV, PIGO
cellular protein modification process (GO:0006464) -1.790.001PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
macromolecule modification (GO:0043412) -1.730.001PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
protein modification process (GO:0036211) -1.790.001PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
phosphatidylinositol metabolic process (GO:0046488) -4.460.0PIGY, PGAP2, PGAP3, PIGV, PIGO
phosphatidylinositol biosynthetic process (GO:0006661) -4.940.0PIGY, PGAP2, PGAP3, PIGV, PIGO
glycerolipid metabolic process (GO:0046486) -3.910.0PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
organophosphate biosynthetic process (GO:0090407) -3.670.0PIGY, PGAP2, PGAP3, PIGV, PIGO
lipid biosynthetic process (GO:0008610) -3.490.0PIGY, PGAP2, PGAP3, PIGV, PIGO
protein lipidation (GO:0006497) -5.380.0PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
phospholipid biosynthetic process (GO:0008654) -4.390.0PIGY, PGAP2, PGAP3, PIGV, PIGO
carbohydrate derivative biosynthetic process (GO:1901137) -3.730.0PIGY, PGAP2, PGAP3, PIGV, PIGO
carbohydrate derivative metabolic process (GO:1901135) -3.070.001PIGY, PGAP2, PGAP3, PIGV, PIGO
protein metabolic process (GO:0019538) -1.450.012PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
phosphate-containing compound metabolic process (GO:0006796) -2.160.001PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
phosphorus metabolic process (GO:0006793) -2.150.001PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
organophosphate metabolic process (GO:0019637) -3.040.0PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
glycerophospholipid biosynthetic process (GO:0046474) -4.620.0PIGY, PGAP2, PGAP3, PIGV, PIGO
preassembly of GPI anchor in ER membrane (GO:0016254) -7.020.0PIGV, PIGW, PIGO
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
endoplasmic reticulum (GO:0005783) 2.566PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
integral component of membrane (GO:0016021) 1.146PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
membrane (GO:0016020) 0.686PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
cell part (GO:0044464) 0.116PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
cytoplasmic part (GO:0044444) 0.826PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
endoplasmic reticulum membrane (GO:0005789) 2.956PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
intracellular organelle part (GO:0044446) 0.816PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
endoplasmic reticulum part (GO:0044432) 2.736PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
intracellular organelle (GO:0043229) 0.516PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
organelle part (GO:0044422) 0.796PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
intracellular part (GO:0044424) 0.286PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
membrane part (GO:0044425) 0.956PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
membrane-bounded organelle (GO:0043227) 0.476PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
organelle (GO:0043226) 0.46PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
intrinsic component of membrane (GO:0031224) 1.136PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
intracellular membrane-bounded organelle (GO:0043231) 0.66PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
protein complex (GO:0043234) 1.512PIGY, PIGV
Golgi apparatus (GO:0005794) 2.72PGAP3, PGAP2
macromolecular complex (GO:0032991) 1.352PIGY, PIGV
organelle membrane (GO:0031090) 1.972PGAP3, PGAP2
bounding membrane of organelle (GO:0098588) 2.392PGAP3, PGAP2
Golgi membrane (GO:0000139) 3.282PGAP3, PGAP2
Golgi apparatus part (GO:0044431) 3.02PGAP3, PGAP2

NET-GE enrichment

Term New enriched termICP valueGenes
organelle membrane (GO:0031090) -1.970.021PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
bounding membrane of organelle (GO:0098588) -2.390.0PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
membrane region (GO:0098589) NEW3.950.0PIGY, PIGW, PGAP2, PIGV, PIGO
endoplasmic reticulum membrane (GO:0005789) -2.950.0PIGY, PGAP2, PIGV, PIGW, PIGO
endoplasmic reticulum part (GO:0044432) -2.730.0PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW
integral component of membrane (GO:0016021) -1.140.015PIGY, PIGO, PGAP3, PGAP2, PIGV, PIGW