Disease table of MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME OMIM ID: PS614080

Gene-disease associations table

GeneAssociated with MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PIGAClinVar, OMIM, HUMSAVARHGNC linkXp22.23PS300818, PS614080, PS308350
PIGTClinVar, OMIM, HUMSAVARHGNC link20q13.122PS300818, PS614080
PIGNClinVar, OMIM, HUMSAVARHGNC link18q21.331PS614080

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
PIGAPIGNNo1ELAVL1

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

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 biosynthesishsa005638.073PIGA, PIGN, PIGT
Metabolic pathwayshsa011002.493PIGA, PIGN, PIGT

NET-GE enrichment

Term New enriched termICP valueGenes
Glycosylphosphatidylinositol(GPI)-anchor biosynthesis (hsa00563) -8.070.0PIGA, PIGN, PIGT
Global and overview mapsNEW2.470.036PIGA, PIGN, PIGT
Glycan biosynthesis and metabolismNEW4.780.001PIGA, PIGN, PIGT
Metabolic pathways (hsa01100) -2.490.034PIGA, PIGN, PIGT
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-1631258.283PIGA, PIGN, PIGT
Post-translational protein modificationR-HSA-5975924.543PIGA, PIGN, PIGT
Metabolism of proteinsR-HSA-3924993.413PIGA, PIGN, PIGT
Synthesis of glycosylphosphatidylinositol (GPI)R-HSA-1627108.892PIGA, PIGN

NET-GE enrichment

Term New enriched termICP valueGenes
Post-translational modification: synthesis of GPI-anchored proteins (R-HSA-163125) -8.280.0PIGA, PIGN, PIGT
Synthesis of glycosylphosphatidylinositol (GPI) (R-HSA-162710) -8.890.0PIGA, PIGN
Metabolism of proteins (R-HSA-392499) -3.410.005PIGA, PIGN, PIGT
Post-translational protein modification (R-HSA-597592) -4.540.004PIGA, PIGN, PIGT
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.053PIGA, PIGN, PIGT
transferase activity (GO:0016740) 1.952PIGA, PIGN
binding (GO:0005488) 0.182PIGA, PIGT
protein binding (GO:0005515) 0.462PIGA, PIGT
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
glycerophospholipid metabolic process (GO:0006650) 4.133PIGA, PIGN, PIGT
cellular biosynthetic process (GO:0044249) 1.373PIGA, PIGN, PIGT
cellular lipid metabolic process (GO:0044255) 2.923PIGA, PIGN, PIGT
single-organism process (GO:0044699) 0.483PIGA, PIGN, PIGT
lipid metabolic process (GO:0006629) 2.683PIGA, PIGN, PIGT
organic substance biosynthetic process (GO:1901576) 1.343PIGA, PIGN, PIGT
single-organism metabolic process (GO:0044710) 1.633PIGA, PIGN, PIGT
single-organism biosynthetic process (GO:0044711) 2.83PIGA, PIGN, PIGT
cellular macromolecule metabolic process (GO:0044260) 0.933PIGA, PIGN, PIGT
organic substance metabolic process (GO:0071704) 0.633PIGA, PIGN, PIGT
GPI anchor metabolic process (GO:0006505) 6.233PIGA, PIGN, PIGT
glycerolipid biosynthetic process (GO:0045017) 4.533PIGA, PIGN, PIGT
membrane lipid biosynthetic process (GO:0046467) 4.993PIGA, PIGN, PIGT
glycolipid metabolic process (GO:0006664) 5.013PIGA, PIGN, PIGT
liposaccharide metabolic process (GO:1903509) 4.983PIGA, PIGN, PIGT
phospholipid metabolic process (GO:0006644) 3.883PIGA, PIGN, PIGT
membrane lipid metabolic process (GO:0006643) 4.513PIGA, PIGN, PIGT
cellular protein metabolic process (GO:0044267) 1.633PIGA, PIGN, PIGT
cellular process (GO:0009987) 0.263PIGA, PIGN, PIGT
glycolipid biosynthetic process (GO:0009247) 5.63PIGA, PIGN, PIGT
cellular protein modification process (GO:0006464) 1.793PIGA, PIGN, PIGT
macromolecule modification (GO:0043412) 1.733PIGA, PIGN, PIGT
protein modification process (GO:0036211) 1.793PIGA, PIGN, PIGT
single-organism cellular process (GO:0044763) 0.653PIGA, PIGN, PIGT
metabolic process (GO:0008152) 0.583PIGA, PIGN, PIGT
phosphatidylinositol biosynthetic process (GO:0006661) 4.943PIGA, PIGN, PIGT
glycerolipid metabolic process (GO:0046486) 3.913PIGA, PIGN, PIGT
organophosphate biosynthetic process (GO:0090407) 3.673PIGA, PIGN, PIGT
lipid biosynthetic process (GO:0008610) 3.493PIGA, PIGN, PIGT
protein lipidation (GO:0006497) 5.383PIGA, PIGN, PIGT
primary metabolic process (GO:0044238) 0.693PIGA, PIGN, PIGT
phospholipid biosynthetic process (GO:0008654) 4.393PIGA, PIGN, PIGT
carbohydrate derivative biosynthetic process (GO:1901137) 3.733PIGA, PIGN, PIGT
carbohydrate derivative metabolic process (GO:1901135) 3.073PIGA, PIGN, PIGT
biosynthetic process (GO:0009058) 1.323PIGA, PIGN, PIGT
cellular metabolic process (GO:0044237) 0.693PIGA, PIGN, PIGT
macromolecule metabolic process (GO:0043170) 0.833PIGA, PIGN, PIGT
protein metabolic process (GO:0019538) 1.453PIGA, PIGN, PIGT
phosphate-containing compound metabolic process (GO:0006796) 2.163PIGA, PIGN, PIGT
phosphorus metabolic process (GO:0006793) 2.153PIGA, PIGN, PIGT
organophosphate metabolic process (GO:0019637) 3.043PIGA, PIGN, PIGT
phosphatidylinositol metabolic process (GO:0046488) 4.463PIGA, PIGN, PIGT
GPI anchor biosynthetic process (GO:0006506) 6.263PIGA, PIGN, PIGT
glycerophospholipid biosynthetic process (GO:0046474) 4.623PIGA, PIGN, PIGT
preassembly of GPI anchor in ER membrane (GO:0016254) 7.022PIGA, PIGN

NET-GE enrichment

Term New enriched termICP valueGenes
C-terminal protein amino acid modification (GO:0018410) NEW7.090.0PIGA, PIGN, PIGT
glycerophospholipid metabolic process (GO:0006650) -4.130.004PIGA, PIGN, PIGT
glycerolipid biosynthetic process (GO:0045017) -4.530.002PIGA, PIGN, PIGT
C-terminal protein lipidation (GO:0006501) NEW7.780.0PIGA, PIGN, PIGT
GPI anchor metabolic process (GO:0006505) -6.230.0PIGA, PIGN, PIGT
GPI anchor biosynthetic process (GO:0006506) -6.260.0PIGA, PIGN, PIGT
membrane lipid biosynthetic process (GO:0046467) -4.990.0PIGA, PIGN, PIGT
glycolipid metabolic process (GO:0006664) -5.010.006PIGA, PIGN, PIGT
phospholipid metabolic process (GO:0006644) -3.880.008PIGA, PIGN, PIGT
membrane lipid metabolic process (GO:0006643) -4.510.016PIGA, PIGN, PIGT
post-translational protein modification (GO:0043687) NEW6.170.001PIGA, PIGN, PIGT
glycolipid biosynthetic process (GO:0009247) -5.60.0PIGA, PIGN, PIGT
phosphatidylinositol metabolic process (GO:0046488) -4.460.0PIGA, PIGN, PIGT
phosphatidylinositol biosynthetic process (GO:0006661) -4.940.0PIGA, PIGN, PIGT
glycerolipid metabolic process (GO:0046486) -3.910.01PIGA, PIGN, PIGT
organophosphate biosynthetic process (GO:0090407) -3.670.028PIGA, PIGN, PIGT
lipid biosynthetic process (GO:0008610) -3.490.049PIGA, PIGN, PIGT
protein lipidation (GO:0006497) -5.380.0PIGA, PIGN, PIGT
phospholipid biosynthetic process (GO:0008654) -4.390.002PIGA, PIGN, PIGT
carbohydrate derivative biosynthetic process (GO:1901137) -3.730.014PIGA, PIGN, PIGT
glycerophospholipid biosynthetic process (GO:0046474) -4.620.019PIGA, PIGN, PIGT
preassembly of GPI anchor in ER membrane (GO:0016254) -7.020.0PIGA, PIGN
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
endoplasmic reticulum (GO:0005783) 2.563PIGA, PIGN, PIGT
integral component of membrane (GO:0016021) 1.143PIGA, PIGN, PIGT
membrane (GO:0016020) 0.683PIGA, PIGN, PIGT
cell part (GO:0044464) 0.113PIGA, PIGN, PIGT
cytoplasmic part (GO:0044444) 0.823PIGA, PIGN, PIGT
endoplasmic reticulum membrane (GO:0005789) 2.953PIGA, PIGN, PIGT
intracellular organelle part (GO:0044446) 0.813PIGA, PIGN, PIGT
endoplasmic reticulum part (GO:0044432) 2.733PIGA, PIGN, PIGT
intracellular organelle (GO:0043229) 0.513PIGA, PIGN, PIGT
organelle part (GO:0044422) 0.793PIGA, PIGN, PIGT
intracellular part (GO:0044424) 0.283PIGA, PIGN, PIGT
membrane part (GO:0044425) 0.953PIGA, PIGN, PIGT
membrane-bounded organelle (GO:0043227) 0.473PIGA, PIGN, PIGT
organelle (GO:0043226) 0.43PIGA, PIGN, PIGT
intrinsic component of membrane (GO:0031224) 1.133PIGA, PIGN, PIGT
intracellular membrane-bounded organelle (GO:0043231) 0.63PIGA, PIGN, PIGT
protein complex (GO:0043234) 1.512PIGA, PIGT
macromolecular complex (GO:0032991) 1.352PIGA, PIGT

NET-GE enrichment

Term New enriched termICP valueGenes
bounding membrane of organelle (GO:0098588) NEW2.390.035PIGA, PIGN, PIGT
membrane region (GO:0098589) NEW3.950.01PIGA, PIGN, PIGT
endoplasmic reticulum membrane (GO:0005789) -2.950.049PIGA, PIGN, PIGT
endoplasmic reticulum part (GO:0044432) -2.730.005PIGA, PIGN, PIGT
integral component of endoplasmic reticulum membrane (GO:0030176) NEW5.010.028PIGA, PIGT