Disease table of MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME OMIM ID: PS603387

Gene-disease associations table

GeneAssociated with MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
AKT3ClinVar, OMIM, HUMSAVARHGNC link1q441PS603387
PIK3R2ClinVar, OMIM, HUMSAVARHGNC link19p13.111PS603387
CCND2ClinVar, OMIM, HUMSAVARHGNC link12p13.321PS603387

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
CCND2YES24NFYA, ABL1, GATA4, FOXL2, TRRAP, RUNX1, NFKB2, SP1, ETV4, BCL6, EGR1, STAT5A, FOXO3, HDAC1, NFYB, NFYC, JUN, RELA, NFKB1, STAT3, MAFB, MYC, MAF, IRF90
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PIK3R2CCND2No2FBXL2, ABL1

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
AKT3PIK3R2No-4PIK3CB, PIK3CD, PIK3CA, PIK3CG
AKT3CCND2No-7CDKN1A, IGF1, TSC2, FOXO1, FOXO3, GSK3B, CDKN1B

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
FoxO signaling pathwayhsa040685.633AKT3, CCND2, PIK3R2
Jak-STAT signaling pathwayhsa046305.443AKT3, CCND2, PIK3R2
Prolactin signaling pathwayhsa049176.63AKT3, CCND2, PIK3R2
Focal adhesionhsa045104.923AKT3, CCND2, PIK3R2
HTLV-I infectionhsa051664.593AKT3, CCND2, PIK3R2
Measleshsa051625.63AKT3, CCND2, PIK3R2
PI3K-Akt signaling pathwayhsa041514.213AKT3, CCND2, PIK3R2
Melanomahsa052186.562AKT3, PIK3R2
Platelet activationhsa046115.662AKT3, PIK3R2
Acute myeloid leukemiahsa052216.742AKT3, PIK3R2
cGMP-PKG signaling pathwayhsa040225.322AKT3, PIK3R2
Endometrial cancerhsa052136.812AKT3, PIK3R2
Colorectal cancerhsa052106.522AKT3, PIK3R2
Renal cell carcinomahsa052116.62AKT3, PIK3R2
Signaling pathways regulating pluripotency of stem cellshsa045505.62AKT3, PIK3R2
Gliomahsa052146.662AKT3, PIK3R2
Prostate cancerhsa052156.112AKT3, PIK3R2
Neurotrophin signaling pathwayhsa047225.782AKT3, PIK3R2
Central carbon metabolism in cancerhsa052306.72AKT3, PIK3R2
Choline metabolism in cancerhsa052316.092AKT3, PIK3R2
Osteoclast differentiationhsa043805.642AKT3, PIK3R2
HIF-1 signaling pathwayhsa040665.92AKT3, PIK3R2
Chemokine signaling pathwayhsa040625.192AKT3, PIK3R2
Rap1 signaling pathwayhsa040154.972AKT3, PIK3R2
Chagas disease (American trypanosomiasis)hsa051425.992AKT3, PIK3R2
Pancreatic cancerhsa052126.562AKT3, PIK3R2
Epstein-Barr virus infectionhsa051694.972AKT3, PIK3R2
Toxoplasmosishsa051455.712AKT3, PIK3R2
Influenza Ahsa051645.212AKT3, PIK3R2
Apoptosishsa042106.232AKT3, PIK3R2
Hepatitis Chsa051605.682AKT3, PIK3R2
Hepatitis Bhsa051615.522AKT3, PIK3R2
Chronic myeloid leukemiahsa052206.482AKT3, PIK3R2
VEGF signaling pathwayhsa043706.772AKT3, PIK3R2
Proteoglycans in cancerhsa052055.022AKT3, PIK3R2
MicroRNAs in cancerhsa052065.382CCND2, PIK3R2
Toll-like receptor signaling pathwayhsa046206.02AKT3, PIK3R2
Pathways in cancerhsa052003.982AKT3, PIK3R2
Viral carcinogenesishsa052035.082CCND2, PIK3R2
T cell receptor signaling pathwayhsa046606.012AKT3, PIK3R2
Fc gamma R-mediated phagocytosishsa046666.212AKT3, PIK3R2
B cell receptor signaling pathwayhsa046626.522AKT3, PIK3R2
Ras signaling pathwayhsa040144.92AKT3, PIK3R2
Non-small cell lung cancerhsa052236.882AKT3, PIK3R2
Small cell lung cancerhsa052226.172AKT3, PIK3R2
Progesterone-mediated oocyte maturationhsa049146.182AKT3, PIK3R2
Estrogen signaling pathwayhsa049156.112AKT3, PIK3R2
TNF signaling pathwayhsa046685.962AKT3, PIK3R2
Thyroid hormone signaling pathwayhsa049195.822AKT3, PIK3R2
AMPK signaling pathwayhsa041525.82AKT3, PIK3R2
mTOR signaling pathwayhsa041506.722AKT3, PIK3R2
Carbohydrate digestion and absorptionhsa049737.282AKT3, PIK3R2
Insulin signaling pathwayhsa049105.552AKT3, PIK3R2
cAMP signaling pathwayhsa040245.052AKT3, PIK3R2
Non-alcoholic fatty liver disease (NAFLD)hsa049325.512AKT3, PIK3R2
Cholinergic synapsehsa047255.882AKT3, PIK3R2
Fc epsilon RI signaling pathwayhsa046646.62AKT3, PIK3R2
Adrenergic signaling in cardiomyocyteshsa042615.442AKT3, PIK3R2
ErbB signaling pathwayhsa040126.152AKT3, PIK3R2

NET-GE enrichment

Term New enriched termICP valueGenes
Melanoma (hsa05218) -6.560.0AKT3, CCND2, PIK3R2
FoxO signaling pathway (hsa04068) -5.630.001AKT3, CCND2, PIK3R2
Pancreatic cancer (hsa05212) -6.560.034AKT3, PIK3R2
Endometrial cancer (hsa05213) -6.810.036AKT3, PIK3R2
Colorectal cancer (hsa05210) -6.520.036AKT3, PIK3R2
Renal cell carcinoma (hsa05211) -6.60.032AKT3, PIK3R2
Glioma (hsa05214) -6.660.043AKT3, PIK3R2
Jak-STAT signaling pathway (hsa04630) -5.440.001AKT3, CCND2, PIK3R2
Neurotrophin signaling pathway (hsa04722) -5.780.002AKT3, CCND2, PIK3R2
Central carbon metabolism in cancer (hsa05230) -6.70.028AKT3, PIK3R2
Focal adhesion (hsa04510) -4.920.004AKT3, CCND2, PIK3R2
HTLV-I infection (hsa05166) -4.590.007AKT3, CCND2, PIK3R2
Measles (hsa05162) -5.60.004AKT3, CCND2, PIK3R2
VEGF signaling pathway (hsa04370) -6.770.025AKT3, PIK3R2
B cell receptor signaling pathway (hsa04662) -6.520.036AKT3, PIK3R2
Ras signaling pathway (hsa04014) -4.90.02AKT3, CCND2, PIK3R2
Non-small cell lung cancer (hsa05223) -6.880.021AKT3, PIK3R2
Prolactin signaling pathway (hsa04917) -6.60.0AKT3, CCND2, PIK3R2
Acute myeloid leukemia (hsa05221) -6.740.026AKT3, PIK3R2
Chronic myeloid leukemia (hsa05220) -6.480.038AKT3, PIK3R2
Cell growth and deathNEW4.410.042AKT3, CCND2, PIK3R2
mTOR signaling pathway (hsa04150) -6.720.045AKT3, PIK3R2
PI3K-Akt signaling pathway (hsa04151) -4.210.016AKT3, CCND2, PIK3R2
Carbohydrate digestion and absorption (hsa04973) -7.280.034AKT3, PIK3R2
Rap1 signaling pathway (hsa04015) -4.970.022AKT3, CCND2, PIK3R2
Fc epsilon RI signaling pathway (hsa04664) -6.60.048AKT3, PIK3R2
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
PI3K/AKT activationR-HSA-1982036.322AKT3, PIK3R2
GPVI-mediated activation cascadeR-HSA-1146047.182AKT3, PIK3R2
Immune SystemR-HSA-1682562.372AKT3, PIK3R2
Signaling by the B Cell Receptor (BCR)R-HSA-9837054.622AKT3, PIK3R2
Downstream signal transductionR-HSA-1867634.652AKT3, PIK3R2
GAB1 signalosomeR-HSA-1802926.312AKT3, PIK3R2
Signaling by ERBB4R-HSA-12363944.72AKT3, PIK3R2
Adaptive Immune SystemR-HSA-12802183.192AKT3, PIK3R2
DiseaseR-HSA-16436853.332AKT3, PIK3R2
Role of LAT2/NTAL/LAB on calcium mobilizationR-HSA-27309054.952AKT3, PIK3R2
Downstream signaling of activated FGFR1R-HSA-56546874.712AKT3, PIK3R2
Signalling by NGFR-HSA-1665204.232AKT3, PIK3R2
Signaling by VEGFR-HSA-1941384.662AKT3, PIK3R2
PI-3K cascade:FGFR1R-HSA-56546896.372AKT3, PIK3R2
CD28 co-stimulationR-HSA-3893567.982AKT3, PIK3R2
CD28 dependent PI3K/Akt signalingR-HSA-3893578.592AKT3, PIK3R2
Downstream signaling of activated FGFR3R-HSA-56547084.712AKT3, PIK3R2
DAP12 signalingR-HSA-24244914.642AKT3, PIK3R2
Signaling by FGFR4R-HSA-56547434.692AKT3, PIK3R2
Signaling by FGFR3R-HSA-56547414.692AKT3, PIK3R2
VEGFA-VEGFR2 PathwayR-HSA-44200974.72AKT3, PIK3R2
Signaling by FGFRR-HSA-1902364.672AKT3, PIK3R2
PI3K/AKT Signaling in CancerR-HSA-22195286.562AKT3, PIK3R2
Diseases of signal transductionR-HSA-56632024.892AKT3, PIK3R2
Fc epsilon receptor (FCERI) signalingR-HSA-24542024.032AKT3, PIK3R2
GPCR downstream signalingR-HSA-3883963.072AKT3, PIK3R2
Downstream signaling events of B Cell Receptor (BCR)R-HSA-11683725.592AKT3, PIK3R2
Innate Immune SystemR-HSA-1682493.172AKT3, PIK3R2
Signaling by SCF-KITR-HSA-14335574.732AKT3, PIK3R2
PI-3K cascade:FGFR4R-HSA-56547206.372AKT3, PIK3R2
Signaling by PDGFR-HSA-1867974.532AKT3, PIK3R2
G beta:gamma signalling through PI3KgammaR-HSA-3924517.42AKT3, PIK3R2
PI3K events in ERBB2 signalingR-HSA-19636426.372AKT3, PIK3R2
PI-3K cascade:FGFR2R-HSA-56546956.372AKT3, PIK3R2
Downstream signaling of activated FGFR2R-HSA-56546964.712AKT3, PIK3R2
Signaling by EGFRR-HSA-1779294.592AKT3, PIK3R2
NGF signalling via TRKA from the plasma membraneR-HSA-1870374.512AKT3, PIK3R2
PIP3 activates AKT signalingR-HSA-12576046.372AKT3, PIK3R2
Signaling by GPCRR-HSA-3727902.682AKT3, PIK3R2
Signaling by FGFR2R-HSA-56547384.682AKT3, PIK3R2
Signaling by FGFR1R-HSA-56547364.692AKT3, PIK3R2
PI3K events in ERBB4 signalingR-HSA-12503426.372AKT3, PIK3R2
G-protein beta:gamma signallingR-HSA-3977957.312AKT3, PIK3R2
HemostasisR-HSA-1095823.982AKT3, PIK3R2
PI-3K cascade:FGFR3R-HSA-56547106.372AKT3, PIK3R2
DAP12 interactionsR-HSA-21721274.562AKT3, PIK3R2
Downstream signaling of activated FGFR4R-HSA-56547164.712AKT3, PIK3R2
Signaling by ERBB2R-HSA-12279864.662AKT3, PIK3R2
Platelet activation, signaling and aggregationR-HSA-760025.152AKT3, PIK3R2
Signal TransductionR-HSA-1625821.782AKT3, PIK3R2
Costimulation by the CD28 familyR-HSA-3888416.562AKT3, PIK3R2

NET-GE enrichment

Term New enriched termICP valueGenes
PI3K/AKT activation (R-HSA-198203) -6.320.001AKT3, CCND2, PIK3R2
GPVI-mediated activation cascade (R-HSA-114604) -7.180.024AKT3, PIK3R2
PI3K events in ERBB2 signaling (R-HSA-1963642) -6.370.048AKT3, CCND2, PIK3R2
GAB1 signalosome (R-HSA-180292) -6.310.001AKT3, CCND2, PIK3R2
Signaling by ERBB4 (R-HSA-1236394) -4.70.047AKT3, CCND2, PIK3R2
Role of LAT2/NTAL/LAB on calcium mobilization (R-HSA-2730905) -4.950.007AKT3, CCND2, PIK3R2
Downstream signaling of activated FGFR1 (R-HSA-5654687) -4.710.046AKT3, CCND2, PIK3R2
PIP3 activates AKT signaling (R-HSA-1257604) -6.370.048AKT3, CCND2, PIK3R2
PI-3K cascade:FGFR4 (R-HSA-5654720) -6.370.048AKT3, CCND2, PIK3R2
PI-3K cascade:FGFR1 (R-HSA-5654689) -6.370.048AKT3, CCND2, PIK3R2
Diseases of signal transduction (R-HSA-5663202) -4.890.04AKT3, CCND2, PIK3R2
CD28 co-stimulation (R-HSA-389356) -7.980.005AKT3, PIK3R2
CD28 dependent PI3K/Akt signaling (R-HSA-389357) -8.590.002AKT3, PIK3R2
Costimulation by the CD28 family (R-HSA-388841) -6.560.037AKT3, PIK3R2
Signaling by FGFR4 (R-HSA-5654743) -4.690.048AKT3, CCND2, PIK3R2
Signaling by FGFR3 (R-HSA-5654741) -4.690.048AKT3, CCND2, PIK3R2
VEGFA-VEGFR2 Pathway (R-HSA-4420097) -4.70.043AKT3, CCND2, PIK3R2
Signaling by FGFR (R-HSA-190236) -4.670.049AKT3, CCND2, PIK3R2
PI3K/AKT Signaling in Cancer (R-HSA-2219528) -6.560.001AKT3, CCND2, PIK3R2
Signaling by VEGF (R-HSA-194138) -4.660.05AKT3, CCND2, PIK3R2
Downstream signaling events of B Cell Receptor (BCR) (R-HSA-1168372) -5.590.006AKT3, CCND2, PIK3R2
Signaling by SCF-KIT (R-HSA-1433557) -4.730.041AKT3, CCND2, PIK3R2
G beta:gamma signalling through PI3Kgamma (R-HSA-392451) -7.40.011AKT3, PIK3R2
Signaling by the B Cell Receptor (BCR) (R-HSA-983705) -4.620.023AKT3, CCND2, PIK3R2
PI-3K cascade:FGFR2 (R-HSA-5654695) -6.370.048AKT3, CCND2, PIK3R2
Downstream signaling of activated FGFR2 (R-HSA-5654696) -4.710.046AKT3, CCND2, PIK3R2
Downstream signaling of activated FGFR3 (R-HSA-5654708) -4.710.046AKT3, CCND2, PIK3R2
Regulation of beta-cell development (R-HSA-186712) NEW7.980.024AKT3, CCND2
Signaling by FGFR2 (R-HSA-5654738) -4.680.049AKT3, CCND2, PIK3R2
Signaling by FGFR1 (R-HSA-5654736) -4.690.048AKT3, CCND2, PIK3R2
PI3K events in ERBB4 signaling (R-HSA-1250342) -6.370.048AKT3, CCND2, PIK3R2
G-protein beta:gamma signalling (R-HSA-397795) -7.310.013AKT3, PIK3R2
PI-3K cascade:FGFR3 (R-HSA-5654710) -6.370.048AKT3, CCND2, PIK3R2
Downstream signaling of activated FGFR4 (R-HSA-5654716) -4.710.046AKT3, CCND2, PIK3R2
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183AKT3, CCND2, PIK3R2
protein binding (GO:0005515) 0.463AKT3, CCND2, PIK3R2
catalytic activity (GO:0003824) 1.052AKT3, PIK3R2
phosphotransferase activity, alcohol group as acceptor (GO:0016773) 3.082AKT3, PIK3R2
transferase activity, transferring phosphorus-containing groups (GO:0016772) 2.772AKT3, PIK3R2
kinase activity (GO:0016301) 2.932AKT3, PIK3R2
enzyme binding (GO:0019899) 2.272CCND2, PIK3R2
protein kinase binding (GO:0019901) 3.442CCND2, PIK3R2
kinase binding (GO:0019900) 3.322CCND2, PIK3R2
transferase activity (GO:0016740) 1.952AKT3, PIK3R2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.263AKT3, CCND2, PIK3R2
biological regulation (GO:0065007) 0.393AKT3, CCND2, PIK3R2
regulation of biological process (GO:0050789) 0.453AKT3, CCND2, PIK3R2
regulation of cellular process (GO:0050794) 0.53AKT3, CCND2, PIK3R2
regulation of phosphate metabolic process (GO:0019220) 2.352CCND2, PIK3R2
regulation of primary metabolic process (GO:0080090) 1.082CCND2, PIK3R2
regulation of metabolic process (GO:0019222) 1.022CCND2, PIK3R2
phosphorylation (GO:0016310) 2.632AKT3, PIK3R2
positive regulation of cellular metabolic process (GO:0031325) 1.812CCND2, PIK3R2
regulation of cellular metabolic process (GO:0031323) 1.072CCND2, PIK3R2
signal transduction (GO:0007165) 1.282AKT3, PIK3R2
intracellular signal transduction (GO:0035556) 2.392AKT3, PIK3R2
single-organism process (GO:0044699) 0.482CCND2, PIK3R2
positive regulation of metabolic process (GO:0009893) 1.742CCND2, PIK3R2
positive regulation of macromolecule metabolic process (GO:0010604) 1.812CCND2, PIK3R2
regulation of kinase activity (GO:0043549) 3.072CCND2, PIK3R2
organic substance metabolic process (GO:0071704) 0.632AKT3, PIK3R2
positive regulation of catalytic activity (GO:0043085) 2.42CCND2, PIK3R2
positive regulation of molecular function (GO:0044093) 2.232CCND2, PIK3R2
positive regulation of biological process (GO:0048518) 1.22CCND2, PIK3R2
regulation of molecular function (GO:0065009) 1.782CCND2, PIK3R2
regulation of macromolecule metabolic process (GO:0060255) 1.082CCND2, PIK3R2
regulation of catalytic activity (GO:0050790) 1.972CCND2, PIK3R2
regulation of phosphorus metabolic process (GO:0051174) 2.352CCND2, PIK3R2
single-organism cellular process (GO:0044763) 0.652CCND2, PIK3R2
metabolic process (GO:0008152) 0.582AKT3, PIK3R2
regulation of phosphorylation (GO:0042325) 2.52CCND2, PIK3R2
primary metabolic process (GO:0044238) 0.692AKT3, PIK3R2
regulation of transferase activity (GO:0051338) 2.882CCND2, PIK3R2
phosphate-containing compound metabolic process (GO:0006796) 2.162AKT3, PIK3R2
phosphorus metabolic process (GO:0006793) 2.152AKT3, PIK3R2
cellular metabolic process (GO:0044237) 0.692AKT3, PIK3R2
positive regulation of cellular process (GO:0048522) 1.32CCND2, PIK3R2

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of small GTPase mediated signal transduction (GO:0051056) NEW4.080.028AKT3, CCND2, PIK3R2
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.63AKT3, CCND2, PIK3R2
nucleus (GO:0005634) 1.073AKT3, CCND2, PIK3R2
cell part (GO:0044464) 0.113AKT3, CCND2, PIK3R2
cytoplasmic part (GO:0044444) 0.823AKT3, CCND2, PIK3R2
intracellular organelle (GO:0043229) 0.513AKT3, CCND2, PIK3R2
intracellular part (GO:0044424) 0.283AKT3, CCND2, PIK3R2
membrane-bounded organelle (GO:0043227) 0.473AKT3, CCND2, PIK3R2
organelle (GO:0043226) 0.43AKT3, CCND2, PIK3R2
cytoplasm (GO:0005737) 1.012AKT3, CCND2
protein complex (GO:0043234) 1.512CCND2, PIK3R2
macromolecular complex (GO:0032991) 1.352CCND2, PIK3R2
catalytic complex (GO:1902494) 2.92CCND2, PIK3R2
transferase complex, transferring phosphorus-containing groups (GO:0061695) 4.612CCND2, PIK3R2
cytosol (GO:0005829) 1.682CCND2, PIK3R2
membrane (GO:0016020) 0.682AKT3, CCND2
intracellular organelle part (GO:0044446) 0.812AKT3, CCND2
nucleoplasm (GO:0005654) 1.892AKT3, CCND2
nuclear part (GO:0044428) 1.552AKT3, CCND2
transferase complex (GO:1990234) 3.322CCND2, PIK3R2
organelle part (GO:0044422) 0.792AKT3, CCND2