Disease table of LYMPHANGIOLEIOMYOMATOSIS OMIM ID: 606690

Gene-disease associations table

GeneAssociated with LYMPHANGIOLEIOMYOMATOSIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TSC2ClinVar, OMIM, HUMSAVARHGNC link16p13.33PS191100, PS142623, 606690
TSC1ClinVar, OMIMHGNC link9q34.133607341, 606690, PS191100

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
ARNO83UGT2B15, PTPN1, CDH11, AKR1C3, USP26, FOLH1, CCR2, CDK20, CDK6, PNRC1, ARG1, XIAP, VIM, ARG2, EGFR, CFLAR, ETV1, BSG, IGF1R, MUC1, WEE1, PTGS2, NKX3-1, AKT1, NRAS, CDH1, EP300, KLF5, ACTA1, CLK3, FN1, TNF, PRL, ERBB2, ERBB3, CRISP3, CTNNB1, PTEN, CRISP1, SERPINB5, TSC2, NAT1, CDKN1A, GREB1, SEPT7, IFI16, PIGR, KLK3, PC, STIM1, SRD5A3, TCF7L2, JUN, TMPRSS2, RELA, TJP1, BTG1, VEGFA, NFKB1, HMMR, FKBP5, KLK4, CRH, CDH2, BTG2, TGFA, SESN1, CDC6, TH, ALDH1A3, KISS1, KISS1R, PEBP1, KLK2, ATAD2, HMOX1, TSC1, WNT7B, PEG10, TRPS1, CCND1, PIP, FOXA12TSC1, TSC2
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
TSC2YES1AR0
TSC1YES1AR0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
TSC2TSC1Yes20FBXW5, RRAGC, GSK3B, CDKN1B, PAM, TBC1D7, YWHAE, DAPK1, PTK2, RPS6KA1, TSC1, AXIN1, YWHAZ, ESR1, YWHAB, RHEB, AKT1, PLK1, RRAGA, CIAO1

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
TSC2TSC1Yesbinding40PRKAA2, MAPK1, YWHAE, PRKAG1, AKT3, DEPTOR, TBC1D7, PRKAB1, YWHAH, MLST8, YWHAB, RHEB, RPS6KB2, YWHAZ, AKT2, SFN, PRKAA1, RPS6KA3, PRKAG2, RPS6KB1, PRR5, AKT1, GSK3B, CDK1, FBXW5, DDIT4, RPS6KA6, RPS6KA2, RICTOR, MAPK3, IKBKB, MTOR, RPS6KA1, PRKAG3, YWHAG, SGK1, MAPKAP1, UBC, YWHAQ, CDKN1B

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
TSC2TSC1YesTSC1-TSC2 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
Insulin signaling pathwayhsa049105.552TSC1, TSC2
AMPK signaling pathwayhsa041525.82TSC1, TSC2
Choline metabolism in cancerhsa052316.092TSC1, TSC2
mTOR signaling pathwayhsa041506.722TSC1, TSC2
PI3K-Akt signaling pathwayhsa041514.212TSC1, TSC2

NET-GE enrichment

Term New enriched termICP valueGenes
Insulin signaling pathway (hsa04910) -5.550.036TSC1, TSC2
AMPK signaling pathway (hsa04152) -5.80.018TSC1, TSC2
Choline metabolism in cancer (hsa05231) -6.090.016TSC1, TSC2
mTOR signaling pathway (hsa04150) -6.720.001TSC1, TSC2
PI3K-Akt signaling pathway (hsa04151) -4.210.047TSC1, TSC2
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
MacroautophagyR-HSA-16328526.922TSC1, TSC2
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)R-HSA-24041924.852TSC1, TSC2
Inhibition of TSC complex formation by PKBR-HSA-16518111.42TSC1, TSC2
Energy dependent regulation of mTOR by LKB1-AMPKR-HSA-3809728.182TSC1, TSC2
Transcriptional Regulation by TP53R-HSA-37009896.732TSC1, TSC2
Generic Transcription PathwayR-HSA-2124363.862TSC1, TSC2
Gene ExpressionR-HSA-741602.722TSC1, TSC2
Cellular responses to stressR-HSA-22627524.562TSC1, TSC2
IRS-mediated signallingR-HSA-1123994.872TSC1, TSC2
PI3K CascadeR-HSA-1097046.682TSC1, TSC2
IGF1R signaling cascadeR-HSA-24289244.852TSC1, TSC2
PKB-mediated eventsR-HSA-1097037.662TSC1, TSC2
IRS-related events triggered by IGF1RR-HSA-24289284.852TSC1, TSC2
TP53 Regulates Metabolic GenesR-HSA-56288976.732TSC1, TSC2
mTOR signallingR-HSA-1651597.72TSC1, TSC2
Signaling by Insulin receptorR-HSA-747524.732TSC1, TSC2
Signal TransductionR-HSA-1625821.782TSC1, TSC2
Insulin receptor signalling cascadeR-HSA-747514.852TSC1, TSC2

NET-GE enrichment

Term New enriched termICP valueGenes
Macroautophagy (R-HSA-1632852) -6.920.009TSC1, TSC2
Transcriptional Regulation by TP53 (R-HSA-3700989) -6.730.01TSC1, TSC2
Inhibition of TSC complex formation by PKB (R-HSA-165181) -11.40.0TSC1, TSC2
Energy dependent regulation of mTOR by LKB1-AMPK (R-HSA-380972) -8.180.001TSC1, TSC2
mTOR signalling (R-HSA-165159) -7.70.001TSC1, TSC2
PI3K Cascade (R-HSA-109704) -6.680.015TSC1, TSC2
PKB-mediated events (R-HSA-109703) -7.660.001TSC1, TSC2
TP53 Regulates Metabolic Genes (R-HSA-5628897) -6.730.01TSC1, TSC2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
enzyme regulator activity (GO:0030234) 2.852TSC1, TSC2
GTPase regulator activity (GO:0030695) 4.012TSC1, TSC2
binding (GO:0005488) 0.182TSC1, TSC2
protein binding (GO:0005515) 0.462TSC1, TSC2
molecular function regulator (GO:0098772) 2.512TSC1, TSC2
nucleoside-triphosphatase regulator activity (GO:0060589) 3.922TSC1, TSC2

NET-GE enrichment

Term New enriched termICP valueGenes
protein N-terminus binding (GO:0047485) NEW5.110.012TSC1, TSC2
enzyme regulator activity (GO:0030234) -2.850.046TSC1, TSC2
GTPase regulator activity (GO:0030695) -4.010.006TSC1, TSC2
nucleoside-triphosphatase regulator activity (GO:0060589) -3.920.007TSC1, TSC2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
tube formation (GO:0035148) 4.982TSC1, TSC2
developmental process (GO:0032502) 1.362TSC1, TSC2
nuclear transport (GO:0051169) 4.22TSC1, TSC2
anatomical structure development (GO:0048856) 1.582TSC1, TSC2
regulation of phosphate metabolic process (GO:0019220) 2.352TSC1, TSC2
regulation of primary metabolic process (GO:0080090) 1.082TSC1, TSC2
regulation of metabolic process (GO:0019222) 1.022TSC1, TSC2
negative regulation of cell proliferation (GO:0008285) 3.262TSC1, TSC2
negative regulation of response to stimulus (GO:0048585) 2.522TSC1, TSC2
negative regulation of cellular metabolic process (GO:0031324) 2.012TSC1, TSC2
regulation of response to stimulus (GO:0048583) 1.542TSC1, TSC2
regulation of phosphorus metabolic process (GO:0051174) 2.352TSC1, TSC2
regulation of cellular component organization (GO:0051128) 2.012TSC1, TSC2
negative regulation of signaling (GO:0023057) 2.652TSC1, TSC2
cell cycle process (GO:0022402) 2.752TSC1, TSC2
negative regulation of cell communication (GO:0010648) 2.662TSC1, TSC2
regulation of signaling (GO:0023051) 1.722TSC1, TSC2
negative regulation of metabolic process (GO:0009892) 1.932TSC1, TSC2
establishment of localization (GO:0051234) 1.482TSC1, TSC2
regulation of cell communication (GO:0010646) 1.732TSC1, TSC2
regulation of GTPase activity (GO:0043087) 3.212TSC1, TSC2
regulation of biological process (GO:0050789) 0.452TSC1, TSC2
positive regulation of catalytic activity (GO:0043085) 2.42TSC1, TSC2
negative regulation of protein metabolic process (GO:0051248) 2.822TSC1, TSC2
regulation of intracellular signal transduction (GO:1902531) 2.312TSC1, TSC2
negative regulation of macromolecule metabolic process (GO:0010605) 2.012TSC1, TSC2
positive regulation of GTPase activity (GO:0043547) 3.282TSC1, TSC2
positive regulation of hydrolase activity (GO:0051345) 2.912TSC1, TSC2
regulation of signal transduction (GO:0009966) 1.842TSC1, TSC2
regulation of kinase activity (GO:0043549) 3.072TSC1, TSC2
regulation of protein metabolic process (GO:0051246) 1.932TSC1, TSC2
localization (GO:0051179) 1.42TSC1, TSC2
intracellular transport (GO:0046907) 2.672TSC1, TSC2
animal organ development (GO:0048513) 2.532TSC1, TSC2
biological regulation (GO:0065007) 0.392TSC1, TSC2
single-organism process (GO:0044699) 0.482TSC1, TSC2
positive regulation of molecular function (GO:0044093) 2.232TSC1, TSC2
regulation of protein modification process (GO:0031399) 2.322TSC1, TSC2
negative regulation of biological process (GO:0048519) 1.332TSC1, TSC2
regulation of molecular function (GO:0065009) 1.782TSC1, TSC2
anatomical structure formation involved in morphogenesis (GO:0048646) 3.012TSC1, TSC2
regulation of cell proliferation (GO:0042127) 2.412TSC1, TSC2
regulation of hydrolase activity (GO:0051336) 2.532TSC1, TSC2
transport (GO:0006810) 1.512TSC1, TSC2
regulation of macromolecule metabolic process (GO:0060255) 1.082TSC1, TSC2
regulation of cellular metabolic process (GO:0031323) 1.072TSC1, TSC2
regulation of protein kinase activity (GO:0045859) 3.152TSC1, TSC2
nucleocytoplasmic transport (GO:0006913) 4.232TSC1, TSC2
regulation of insulin receptor signaling pathway (GO:0046626) 5.972TSC1, TSC2
negative regulation of insulin receptor signaling pathway (GO:0046627) 6.362TSC1, TSC2
tube closure (GO:0060606) 5.362TSC1, TSC2
single-organism transport (GO:0044765) 2.182TSC1, TSC2
organic substance transport (GO:0071702) 2.152TSC1, TSC2
single-organism intracellular transport (GO:1902582) 3.592TSC1, TSC2
negative regulation of intracellular signal transduction (GO:1902532) 3.632TSC1, TSC2
negative regulation of cell cycle (GO:0045786) 3.672TSC1, TSC2
regulation of cellular process (GO:0050794) 0.52TSC1, TSC2
neural tube closure (GO:0001843) 5.382TSC1, TSC2
single-organism localization (GO:1902578) 2.092TSC1, TSC2
cellular localization (GO:0051641) 2.322TSC1, TSC2
regulation of phosphorylation (GO:0042325) 2.52TSC1, TSC2
single-organism developmental process (GO:0044767) 1.492TSC1, TSC2
negative regulation of cellular protein metabolic process (GO:0032269) 2.882TSC1, TSC2
regulation of cellular protein metabolic process (GO:0032268) 1.992TSC1, TSC2
negative regulation of signal transduction (GO:0009968) 2.752TSC1, TSC2
regulation of catalytic activity (GO:0050790) 1.972TSC1, TSC2
regulation of cell cycle (GO:0051726) 2.932TSC1, TSC2
cell cycle arrest (GO:0007050) 4.692TSC1, TSC2
regulation of transferase activity (GO:0051338) 2.882TSC1, TSC2
regulation of protein phosphorylation (GO:0001932) 2.572TSC1, TSC2
negative regulation of cellular process (GO:0048523) 1.412TSC1, TSC2
negative regulation of cellular response to insulin stimulus (GO:1900077) 6.292TSC1, TSC2
regulation of cellular response to insulin stimulus (GO:1900076) 5.652TSC1, TSC2
negative regulation of TOR signaling (GO:0032007) 6.172TSC1, TSC2
regulation of TOR signaling (GO:0032006) 5.442TSC1, TSC2
cellular process (GO:0009987) 0.262TSC1, TSC2
single-organism cellular localization (GO:1902580) 3.162TSC1, TSC2
establishment of localization in cell (GO:0051649) 2.472TSC1, TSC2

NET-GE enrichment

Term New enriched termICP valueGenes
tube closure (GO:0060606) -5.360.005TSC1, TSC2
nuclear transport (GO:0051169) -4.20.038TSC1, TSC2
negative regulation of cell size (GO:0045792) NEW7.530.0TSC1, TSC2
protein heterooligomerization (GO:0051291) NEW5.220.006TSC1, TSC2
insulin receptor signaling pathway (GO:0008286) NEW5.330.018TSC1, TSC2
regulation of insulin receptor signaling pathway (GO:0046626) -5.970.005TSC1, TSC2
tube formation (GO:0035148) -4.980.011TSC1, TSC2
cell cycle arrest (GO:0007050) -4.690.017TSC1, TSC2
negative regulation of TOR signaling (GO:0032007) -6.170.002TSC1, TSC2
regulation of cell size (GO:0008361) NEW5.420.001TSC1, TSC2
regulation of anatomical structure size (GO:0090066) NEW3.780.043TSC1, TSC2
negative regulation of cellular response to insulin stimulus (GO:1900077) -6.290.003TSC1, TSC2
regulation of cellular response to insulin stimulus (GO:1900076) -5.650.002TSC1, TSC2
cellular response to insulin stimulus (GO:0032869) NEW5.290.031TSC1, TSC2
regulation of TOR signaling (GO:0032006) -5.440.012TSC1, TSC2
nucleocytoplasmic transport (GO:0006913) -4.230.036TSC1, TSC2
negative regulation of insulin receptor signaling pathway (GO:0046627) -6.360.002TSC1, TSC2
neural tube closure (GO:0001843) -5.380.005TSC1, TSC2
regulation of cellular component size (GO:0032535) NEW4.210.022TSC1, TSC2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
TSC1-TSC2 complex (GO:0033596) 8.72TSC1, TSC2
cytoplasm (GO:0005737) 1.012TSC1, TSC2
cytosol (GO:0005829) 1.682TSC1, TSC2
macromolecular complex (GO:0032991) 1.352TSC1, TSC2
intracellular membrane-bounded organelle (GO:0043231) 0.62TSC1, TSC2
nucleus (GO:0005634) 1.072TSC1, TSC2
membrane (GO:0016020) 0.682TSC1, TSC2
cell part (GO:0044464) 0.112TSC1, TSC2
cytoplasmic part (GO:0044444) 0.822TSC1, TSC2
intracellular organelle (GO:0043229) 0.512TSC1, TSC2
cytosolic part (GO:0044445) 4.342TSC1, TSC2
intracellular part (GO:0044424) 0.282TSC1, TSC2
protein complex (GO:0043234) 1.512TSC1, TSC2
perinuclear region of cytoplasm (GO:0048471) 3.352TSC1, TSC2
membrane-bounded organelle (GO:0043227) 0.472TSC1, TSC2
organelle (GO:0043226) 0.42TSC1, TSC2

NET-GE enrichment

Term New enriched termICP valueGenes
TSC1-TSC2 complex (GO:0033596) -8.70.0TSC1, TSC2
protein kinase complex (GO:1902911) NEW5.310.006TSC1, TSC2
cell projection part (GO:0044463) NEW2.970.048TSC1, TSC2
site of polarized growth (GO:0030427) NEW4.850.001TSC1, TSC2
growth cone (GO:0030426) NEW4.890.001TSC1, TSC2
cytosolic part (GO:0044445) -4.340.024TSC1, TSC2