Disease table of GASTROINTESTINAL STROMAL TUMOR OMIM ID: 606764

Gene-disease associations table

GeneAssociated with GASTROINTESTINAL STROMAL TUMOR inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PDGFRAClinVar, OMIM, HUMSAVARHGNC link4q123119540, 606764, 607685
MTHFRClinVarHGNC link1p36.225181500, PS188050, 606764, 236250, 601634
KITClinVar, OMIM, HUMSAVARHGNC link4q125601626, 172800, 273300, 606764, 154800
MTRClinVarHGNC link1q433601634, 250940, 606764
MTRRClinVarHGNC link5p15.313601634, 236270, 606764
SDHCClinVar, OMIMHGNC link1q23.34604287, 606864, PS168000, 606764
SDHBClinVar, OMIMHGNC link1p36.136171300, 604287, 606764, 606864, PS168000, PS158350
FOLR1ClinVarHGNC link11q13.42613068, 606764
SHMT1ClinVarHGNC link17p11.21606764
SLC19A1ClinVarHGNC link21q22.31606764

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Common tandem groupNumber of genes in this tandem group associated to this diseaseGenes in this tandem group associated to this disease
Group 2122KIT, PDGFRA
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
4q122KIT, PDGFRA
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
4q122KIT, PDGFRA
1p362SDHB, MTHFR
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
4q12KIT, PDGFRA
1p32SDHB, MTHFR
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
1q2MTR, SDHC
1p2SDHB, MTHFR
4q2KIT, PDGFRA
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
14MTR, SDHC, MTHFR, SDHB
42KIT, PDGFRA
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
NFE2L2NO17SDHB, GSTA1, MTHFR, SOD1, GSS, CFTR, HBB, GCLC, NQO1, CAT, HMOX1, KRT16, CXCL8, BRCA1, MGST1, UGT2B7, SOD22SDHB, MTHFR
TFAP2ANO69SLC19A1, POLD2, L1CAM, MCAM, GALNT3, CRYAB, KISS1, CGB, EGFR, HTT, GAST, COL1A1, NME3, PTGS2, SPRY2, ACHE, MUC4, DBH, FOXA1, GUSB, DCBLD2, IGFBP5, CFTR, HSD17B1, ERBB2, ETS1, CD82, CYP11A1, PVR, ADM, KRT5, KIT, CCNB1, HGF, F2R, ECM1, APP, MPG, CRABP2, CDH1, PTEN, KLF12, VEGFA, GPX4, SULT1E1, CGA, LNPEP, TIMP2, MMP9, HOXA4, TAF7, NR3C1, BCL2, PLAUR, TH, ADRA2B, MMP2, CDKN1A, FAS, ADRA1A, IMPDH2, SNAP91, PRKCA, HMOX1, BACE1, CRX, BRS3, HIP1, CSH12SLC19A1, KIT
SP1NO460ITGB3, KRT14, CDK4, UGCG, PGR, GAST, PSIP1, ITGA5, PTHLH, ITGB2, CD44, HLA-G, LTF, IGFBP4, NF1, ACVRL1, GSTP1, CYP2F1, CA9, MMRN1, HSD17B2, STK11, FGFR3, CD28, UGT1A4, FASLG, DNASE2, KRT19, SLC39A1, ALOX5, PDGFB, PTGS2, CYP7A1, TNF, TPMT, HSD11B2, FMR1, CHI3L1, PCK1, DMRT1, RARA, RASSF1, CYP3A7, BRD7, CYP17A1, LPL, CXADR, PADI3, ABCA1, NR5A1, COL11A2, IRF5, XIAP, BACE1, STAR, TBX21, BSG, APP, MDM2, COMP, ALOX12, CHRNB4, SNAP25, MTA1, CCK, DDB2, CIC, ACAN, KIT, MAT2A, SERPINB5, CDH2, ICAM1, SLC29A1, USP7, SLC5A8, HTR1A, REST, IGF2, APOC3, APAF1, ABCG2, IFNGR1, CRMP1, SLC7A5, PDGFC, HNF4A, ATP2C1, MICA, EAPP, TNFRSF10B, KRT5, MACROD1, ERVW-1, CD151, ELF4, MMP28, POLD2, DNMT1, MAOB, CBS, E2F1, KCNQ3, COL18A1, HIST2H4A, RPS3A, IL10, C4A, CYP3A5, ST6GAL1, CD99, BCL2, SLC15A1, IL6, ADAM10, KRT16, POLE2, MUC6, CBFB, ACO1, DCK, CAV1, MIF, DNMT3A, HMGA2, PDIA2, B4GALT1, GJA1, PPL, SLC13A4, AGTR1, PTGIR, CETP, SLC2A2, CYP27A1, F2R, BLMH, ADIPOQ, CENPH, OPRM1, BAG2, MPO, WRN, CDK6, PTTG1, YY1, CD2AP, TBXA2R, TGM4, PRSS50, HSD17B11, HCN2, MYCN, F3, ID4, CDKN1A, SLC5A1, SERPINE1, C1QBP, SOX3, EGR1, TF, RETN, SYP, RORA, NDUFV1, C4B, SNAPC1, TGFBR2, MME, GATA3, DPYSL2, CXCL14, SPRY2, ABCB8, COX4I1, SCTR, UGDH, HBEGF, PLAT, FOS, XPC, MUC5AC, HYAL1, BRCA1, NOS1, KCTD11, HCN4, ASPN, OXTR, COL1A1, TLR2, ALOX15B, ITGAV, IL5, SLC9A2, SIRT1, FGL2, KLF8, KCNQ2, UGT2B15, FOXM1, TEC, CHST4, TINF2, SLC19A3, KIF2C, ADAM23, PTGES, DNMT3B, GCLC, THBD, GFER, ADRBK1, TGFB1, SLC25A20, TK1, PRM1, CXCL1, APOE, PDE6A, TICAM1, KCNH2, TERF2, CENPW, NFKB1, ITGA2, PCYT1A, SIGIRR, IRS2, SP3, GIPR, SCNN1B, PTN, PTEN, NDUFV2, INSR, AGT, ME1, ATP2A2, HAS2, CYP19A1, HTT, MAT2B, PRNP, MNDA, SLC9A3, ADAM17, BAX, SLC3A2, UTRN, SPN, PAX6, SMARCA1, IL2, CREM, MMP9, ENG, CHGA, MUC4, ESR1, AHR, ATM, NFKB2, COL7A1, CD97, EPO, TFPI2, POR, DRG2, ELMO3, CAT, CYP3A4, LOXL4, BDKRB1, WAS, PNOC, LDHC, ADH6, CDC42BPG, NKX2-1, CYP1B1, TAF7, PLAUR, MMP2, MMP11, APLNR, UBC, GM2A, FGFR1, PLAA, TIMP1, TNFSF14, PTK6, KISS1, CDKN2B, COL2A1, BTK, ITGAX, HBZ, CREB1, MMP14, MICB, LEP, FOLR1, ATP2A3, SNRPN, ADA, PSEN1, SPP1, TNNI3, NOL7, VEGFA, CSNK2A1, VAMP2, NQO2, LOR, EPOR, HSD3B1, ISG20, MET, F10, CD1D, FBLN1, APLP1, CCL5, FAS, ERBB2, COPS5, MYBL1, RECQL4, CD83, SOD1, HOXB7, WIF1, SLC39A8, CES1, IL5RA, APEX1, ITGAD, TNC, KDR, CLDN3, NR4A1, MYC, RELA, RECK, PGLYRP2, LRP5, MYBL2, ADRA2B, VIM, EGFR, GDA, SOD2, FES, LDHA, CD14, AMACR, IGFBP1, SLC19A1, IMPDH2, PDE6B, LCAT, PPP2R2B, FBN1, CERS2, EPAS1, KLK3, FLNA, CCL2, HMGA1, BACE2, EDNRB, FABP6, HPR, IGFBP3, PON1, APOA1, NPY, B4GALT5, FXR2, CCND2, STARD3, IL2RB, DDB1, SQSTM1, TERT, HGF, TNFSF10, KRT18, TYMP, MUC2, MPG, ABCC3, HDAC4, TCN2, TYMS, DBF4, CASP3, SGPL1, GH2, EGF, CCND1, GPR39, IVL, AR, NT5E, LYZ, SMPD1, PHGDH, CDKN2A, MGST1, CCNA2, POLD1, NOS3, ABCB1, DHCR24, LDLR, HSD17B1, SOCS1, FBP1, LTC4S, CTSL, BIRC5, HRAS, PDHA1, TIMP2, P4HA1, TMPO, ARF6, CDKN1B, SLC31A1, SOX9, PLAU, RGN, CTSB, EZR, TIMP3, F7, SREBF1, SKP2, SCT, VDR, ADRB3, CXCL5, LMO4, CD163, MCTS1, ATF2, CTGF, SRC, P2RX4, TGFA, IL3, CYP7B1, ADRA1A, GRIN1, SRY, ODC13SLC19A1, FOLR1, KIT
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
PDGFRAYES5CEBPD, PAX1, SMAD4, GLI2, GLI10
MTHFRYES1NFE2L20
KITYES4SP1, TFAP2A, MITF, RBMX0
SDHBYES4NRF1, NFE2L2, PLAGL1, HIF1A0
FOLR1YES1SP10
SHMT1YES1MYC0
SLC19A1YES7SP1, CREB1, CEBPB, JUN, TFAP2A, USF1, USF20
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PDGFRAKITYes8PLCG1, CRK, CBL, PIK3R1, CRKL, PDGFRA, GRB2, STAT1
PDGFRAMTRNo1NTRK1
PDGFRASHMT1No3SNX2, SNX6, STAT1
KITSHMT1No1STAT1
MTRMTRRNo1ELAVL1
SDHCSDHBYes2MTCH2, SDHA
SDHBFOLR1No1CUL3

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
PDGFRAKITNo-89KITLG, SH3GLB1, SOS1, PDGFB, EFNA2, WWP1, PLCB3, SH3GL2, PDGFA, FGF7, PHLPP2, CBLB, FGF18, FGF17, CBL, INS, PIK3R1, FGF12, ITCH, RNF41, FGF1, FGF10, SMURF1, SH3KBP1, NEDD4L, EFNA4, PGF, FGF2, PHLPP1, EPN2, FGF23, EPS15, ANGPT4, SHC3, FGF9, FGF22, IGF1, PIK3CB, GRB2, PIK3R3, PLCB1, PIK3CD, FGF19, FGF21, SH3GLB2, NEDD4, EGF, VEGFC, PLCB2, PLCG1, PLCB4, FGF14, FIGF, PIK3R5, SHC2, HRAS, SH3GL3, FGF20, VEGFA, VEGFB, EFNA5, FGF5, EFNA1, PDGFC, PDGFD, MDM2, FGF6, FGF4, CBLC, PIK3CG, ANGPT2, CRKL, ANGPT1, CRK, PIK3CA, SHC4, SHC1, EPN1, FGF11, TRAF6, UBC, SRC, SH3GL1, CSF1, FGF13, FGF8, IRS1, HGF, EPN3
PDGFRAMTRNo-1UBC
PDGFRASDHCNo-1UBC
PDGFRASDHBNo-1UBC
PDGFRASHMT1No-1UBC
PDGFRASLC19A1No-1UBC
KITMTRNo-1UBC
KITSDHCNo-1UBC
KITSDHBNo-1UBC
KITSHMT1No-2UBC, MYC
KITSLC19A1No-1UBC
MTRMTRRYesbinding0
MTRSDHCNo-1UBC
MTRSDHBNo-1UBC
MTRSHMT1No-1UBC
MTRSLC19A1No-1UBC
SDHCSDHBYesbinding3UBC, SDHD, SDHA
SDHCSHMT1No-1UBC
SDHCSLC19A1No-1UBC
SDHBSHMT1No-1UBC
SDHBSLC19A1No-1UBC
SHMT1SLC19A1No-1UBC

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
Gene1Gene2Direct interactionMore information
SDHBSDHCyes, complexComponents of complex composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Metabolic pathwayshsa011002.495SHMT1, SDHB, MTR, SDHC, MTHFR
Carbon metabolismhsa012006.034SHMT1, SDHC, SDHB, MTHFR
Endocytosishsa041444.923FOLR1, PDGFRA, KIT
One carbon pool by folatehsa006708.523MTR, SHMT1, MTHFR
Parkinson's diseasehsa050125.592SDHC, SDHB
Oxidative phosphorylationhsa001905.692SDHC, SDHB
Non-alcoholic fatty liver disease (NAFLD)hsa049325.512SDHC, SDHB
Pathways in cancerhsa052003.982PDGFRA, KIT
Rap1 signaling pathwayhsa040154.972PDGFRA, KIT
Ras signaling pathwayhsa040144.92PDGFRA, KIT
Central carbon metabolism in cancerhsa052306.72PDGFRA, KIT
Cytokine-cytokine receptor interactionhsa040604.672PDGFRA, KIT
Biosynthesis of amino acidshsa012306.582MTR, SHMT1
Huntington's diseasehsa050165.172SDHC, SDHB
Alzheimer's diseasehsa050105.342SDHC, SDHB
Citrate cycle (TCA cycle)hsa000207.862SDHC, SDHB
PI3K-Akt signaling pathwayhsa041514.212PDGFRA, KIT

NET-GE enrichment

Term New enriched termICP valueGenes
Carbon metabolism (hsa01200) -6.030.003SHMT1, SDHC, SDHB, MTHFR
Citrate cycle (TCA cycle) (hsa00020) -7.860.039SDHC, SDHB
One carbon pool by folate (hsa00670) -8.520.001MTR, SHMT1, MTHFR
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
MetabolismR-HSA-14307282.347SLC19A1, MTR, MTHFR, SDHC, SHMT1, MTRR, SDHB
Metabolism of vitamins and cofactorsR-HSA-1968546.545SLC19A1, MTR, MTRR, SHMT1, MTHFR
Metabolism of water-soluble vitamins and cofactorsR-HSA-1968496.545SLC19A1, MTR, MTRR, SHMT1, MTHFR
DiseaseR-HSA-16436853.334MTR, KIT, PDGFRA, MTRR
Metabolism of amino acids and derivativesR-HSA-712915.43MTR, MTRR, SHMT1
Metabolism of folate and pterinesR-HSA-1967579.813SLC19A1, SHMT1, MTHFR
Interleukin-2 signalingR-HSA-4519275.052PDGFRA, KIT
Signaling by the B Cell Receptor (BCR)R-HSA-9837054.622PDGFRA, KIT
GAB1 signalosomeR-HSA-1802926.312PDGFRA, KIT
Developmental BiologyR-HSA-12667383.482PDGFRA, KIT
Signaling by VEGFR-HSA-1941384.662PDGFRA, KIT
FCERI mediated MAPK activationR-HSA-28717964.322PDGFRA, KIT
IRS-mediated signallingR-HSA-1123994.872PDGFRA, KIT
VEGFA-VEGFR2 PathwayR-HSA-44200974.72PDGFRA, KIT
Pyruvate metabolism and Citric Acid (TCA) cycleR-HSA-714067.562SDHC, SDHB
Citric acid cycle (TCA cycle)R-HSA-714038.732SDHC, SDHB
Cobalamin (Cbl, vitamin B12) transport and metabolismR-HSA-1967418.732MTR, MTRR
Signaling by EGFRR-HSA-1779294.592PDGFRA, KIT
MethylationR-HSA-1565819.662MTR, MTRR
Phase II conjugationR-HSA-1565806.522MTR, MTRR
PI-3K cascade:FGFR3R-HSA-56547106.372PDGFRA, KIT
Defects in cobalamin (B12) metabolismR-HSA-32964699.282MTR, MTRR
DAP12 interactionsR-HSA-21721274.562PDGFRA, KIT
Downstream signaling of activated FGFR4R-HSA-56547164.712PDGFRA, KIT
Signaling by ERBB2R-HSA-12279864.662PDGFRA, KIT
VEGFR2 mediated cell proliferationR-HSA-52189215.072PDGFRA, KIT
PI3K/AKT activationR-HSA-1982036.322PDGFRA, KIT
Immune SystemR-HSA-1682562.372PDGFRA, KIT
Frs2-mediated activationR-HSA-1709685.122PDGFRA, KIT
PI3K events in ERBB2 signalingR-HSA-19636426.372PDGFRA, KIT
Downstream signal transductionR-HSA-1867634.652PDGFRA, KIT
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblER-HSA-335946711.982MTR, MTRR
Defective MTR causes methylmalonic aciduria and homocystinuria type cblGR-HSA-335946911.982MTR, MTRR
Role of LAT2/NTAL/LAB on calcium mobilizationR-HSA-27309054.952PDGFRA, KIT
Signalling to p38 via RIT and RINR-HSA-1877065.122PDGFRA, KIT
FRS-mediated FGFR2 signalingR-HSA-56547005.142PDGFRA, KIT
FRS-mediated FGFR4 signalingR-HSA-56547125.142PDGFRA, KIT
FRS-mediated FGFR3 signalingR-HSA-56547065.142PDGFRA, KIT
Downstream signaling of activated FGFR3R-HSA-56547084.712PDGFRA, KIT
Fc epsilon receptor (FCERI) signalingR-HSA-24542024.032PDGFRA, KIT
Interleukin receptor SHC signalingR-HSA-9125265.092PDGFRA, KIT
Innate Immune SystemR-HSA-1682493.172PDGFRA, KIT
Defects in vitamin and cofactor metabolismR-HSA-32964828.522MTR, MTRR
NGF signalling via TRKA from the plasma membraneR-HSA-1870374.512PDGFRA, KIT
Prolonged ERK activation eventsR-HSA-1698935.112PDGFRA, KIT
Signaling by FGFR2R-HSA-56547384.682PDGFRA, KIT
GRB2 events in EGFR signalingR-HSA-1798125.152PDGFRA, KIT
Signaling by FGFR1R-HSA-56547364.692PDGFRA, KIT
PI3K events in ERBB4 signalingR-HSA-12503426.372PDGFRA, KIT
Diseases of metabolismR-HSA-56689146.572MTR, MTRR
Axon guidanceR-HSA-4224753.932PDGFRA, KIT
Gastrin-CREB signalling pathway via PKC and MAPKR-HSA-8819074.262PDGFRA, KIT
Biological oxidationsR-HSA-2118595.552MTR, MTRR
The citric acid (TCA) cycle and respiratory electron transportR-HSA-14285175.712SDHC, SDHB
Signaling by LeptinR-HSA-25865525.12PDGFRA, KIT
Constitutive Signaling by Aberrant PI3K in CancerR-HSA-22195307.052PDGFRA, KIT
IGF1R signaling cascadeR-HSA-24289244.852PDGFRA, KIT
IRS-related events triggered by IGF1RR-HSA-24289284.852PDGFRA, KIT
Signaling by Insulin receptorR-HSA-747524.732PDGFRA, KIT
Insulin receptor signalling cascadeR-HSA-747514.852PDGFRA, KIT
Downstream signaling of activated FGFR1R-HSA-56546874.712PDGFRA, KIT
PI-3K cascade:FGFR4R-HSA-56547206.372PDGFRA, KIT
PI-3K cascade:FGFR1R-HSA-56546896.372PDGFRA, KIT
Sulfur amino acid metabolismR-HSA-16146358.462MTR, MTRR
Downstream signaling events of B Cell Receptor (BCR)R-HSA-11683725.592PDGFRA, KIT
PI3K/AKT Signaling in CancerR-HSA-22195286.562PDGFRA, KIT
Diseases of signal transductionR-HSA-56632024.892PDGFRA, KIT
GRB2 events in ERBB2 signalingR-HSA-19636405.152PDGFRA, KIT
Signalling to RASR-HSA-1670445.082PDGFRA, KIT
PI-3K cascade:FGFR2R-HSA-56546956.372PDGFRA, KIT
Downstream signaling of activated FGFR2R-HSA-56546964.712PDGFRA, KIT
SHC1 events in EGFR signalingR-HSA-1803365.152PDGFRA, KIT
FRS-mediated FGFR1 signalingR-HSA-56546935.142PDGFRA, KIT
SHC1 events in ERBB2 signalingR-HSA-12501965.152PDGFRA, KIT
ARMS-mediated activationR-HSA-1709845.122PDGFRA, KIT
SHC1 events in ERBB4 signalingR-HSA-12503475.152PDGFRA, KIT
Signaling by PDGFR-HSA-1867974.532PDGFRA, KIT
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)R-HSA-24041924.852PDGFRA, KIT
Signaling by InterleukinsR-HSA-4491474.712PDGFRA, KIT
Cytokine Signaling in Immune systemR-HSA-12802153.742PDGFRA, KIT
SOS-mediated signallingR-HSA-1124125.152PDGFRA, KIT
Signaling by ERBB4R-HSA-12363944.72PDGFRA, KIT
MAPK1/MAPK3 signalingR-HSA-56849965.112PDGFRA, KIT
Adaptive Immune SystemR-HSA-12802183.192PDGFRA, KIT
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.R-HSA-1632006.122SDHC, SDHB
MAPK family signaling cascadesR-HSA-56830574.892PDGFRA, KIT
PIP3 activates AKT signalingR-HSA-12576046.372PDGFRA, KIT
RAF/MAP kinase cascadeR-HSA-56730015.152PDGFRA, KIT
Signaling by FGFR4R-HSA-56547434.692PDGFRA, KIT
Signaling by FGFR3R-HSA-56547414.692PDGFRA, KIT
Respiratory electron transportR-HSA-6111056.442SDHC, SDHB
Signaling by FGFRR-HSA-1902364.672PDGFRA, KIT
Signaling by SCF-KITR-HSA-14335574.732PDGFRA, KIT
NCAM signaling for neurite out-growthR-HSA-3751654.92PDGFRA, KIT
DAP12 signalingR-HSA-24244914.642PDGFRA, KIT
Interleukin-3, 5 and GM-CSF signalingR-HSA-5129884.992PDGFRA, KIT
Signalling by NGFR-HSA-1665204.232PDGFRA, KIT
Signaling by GPCRR-HSA-3727902.682PDGFRA, KIT
Signalling to ERKsR-HSA-1876875.042PDGFRA, KIT
Signal TransductionR-HSA-1625821.782PDGFRA, KIT

NET-GE enrichment

Term New enriched termICP valueGenes
Defects in vitamin and cofactor metabolism (R-HSA-3296482) -8.520.026MTR, MTRR
Metabolism of folate and pterines (R-HSA-196757) -9.810.0SLC19A1, SHMT1, MTHFR
Citric acid cycle (TCA cycle) (R-HSA-71403) -8.730.019SDHC, SDHB
Metabolism of vitamins and cofactors (R-HSA-196854) -6.540.0SLC19A1, SHMT1, MTR, MTRR, MTHFR
Sulfur amino acid metabolism (R-HSA-1614635) -8.460.028MTR, MTRR
Methylation (R-HSA-156581) -9.660.008MTR, MTRR
Defects in cobalamin (B12) metabolism (R-HSA-3296469) -9.280.009MTR, MTRR
Metabolism (R-HSA-1430728) -2.340.03SLC19A1, MTR, MTHFR, SDHC, SHMT1, MTRR, SDHB
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE (R-HSA-3359467) -11.980.0MTR, MTRR
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG (R-HSA-3359469) -11.980.0MTR, MTRR
Metabolism of water-soluble vitamins and cofactors (R-HSA-196849) -6.540.0SLC19A1, MTR, MTRR, SHMT1, MTHFR
Cobalamin (Cbl, vitamin B12) transport and metabolism (R-HSA-196741) -8.730.034MTR, MTRR
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.1810FOLR1, SLC19A1, MTR, KIT, MTHFR, SDHC, MTRR, SHMT1, SDHB, PDGFRA
small molecule binding (GO:0036094) 1.898FOLR1, SLC19A1, MTR, KIT, MTHFR, MTRR, SHMT1, PDGFRA
catalytic activity (GO:0003824) 1.058MTR, KIT, MTHFR, SDHC, MTRR, SHMT1, SDHB, PDGFRA
heterocyclic compound binding (GO:1901363) 1.068FOLR1, SLC19A1, MTR, KIT, MTHFR, SDHC, MTRR, PDGFRA
organic cyclic compound binding (GO:0097159) 1.058FOLR1, SLC19A1, MTR, KIT, MTHFR, SDHC, MTRR, PDGFRA
protein binding (GO:0005515) 0.467MTR, KIT, MTHFR, MTRR, SHMT1, SDHB, PDGFRA
ion binding (GO:0043167) 1.366FOLR1, MTR, KIT, SDHC, SHMT1, SDHB
cation binding (GO:0043169) 1.44MTR, KIT, SDHC, SDHB
nucleotide binding (GO:0000166) 1.964PDGFRA, KIT, MTRR, MTHFR
transferase activity (GO:0016740) 1.954MTR, KIT, PDGFRA, SHMT1
cofactor binding (GO:0048037) 4.164SHMT1, MTRR, SDHB, MTHFR
metal ion binding (GO:0046872) 1.414MTR, KIT, SDHC, SDHB
nucleoside phosphate binding (GO:1901265) 1.964PDGFRA, KIT, MTRR, MTHFR
oxidoreductase activity (GO:0016491) 3.124SDHC, MTRR, SDHB, MTHFR
modified amino acid binding (GO:0072341) 5.563FOLR1, SLC19A1, MTHFR
carbohydrate derivative binding (GO:0097367) 2.033PDGFRA, KIT, MTRR
vitamin binding (GO:0019842) 5.343FOLR1, SLC19A1, MTR
molecular transducer activity (GO:0060089) 2.323FOLR1, PDGFRA, KIT
ribonucleotide binding (GO:0032553) 2.193PDGFRA, KIT, MTRR
organic acid binding (GO:0043177) 6.63FOLR1, SLC19A1, SHMT1
receptor activity (GO:0004872) 2.323FOLR1, PDGFRA, KIT
protein dimerization activity (GO:0046983) 2.723PDGFRA, KIT, SHMT1
identical protein binding (GO:0042802) 2.633PDGFRA, KIT, SHMT1
protein homodimerization activity (GO:0042803) 3.163PDGFRA, KIT, SHMT1
Ras guanyl-nucleotide exchange factor activity (GO:0005088) 4.312PDGFRA, KIT
folic acid transporter activity (GO:0008517) 7.792FOLR1, SLC19A1
signaling receptor activity (GO:0038023) 2.492PDGFRA, KIT
signal transducer activity (GO:0004871) 2.282PDGFRA, KIT
purine ribonucleoside triphosphate binding (GO:0035639) 2.222PDGFRA, KIT
guanyl-nucleotide exchange factor activity (GO:0005085) 4.022PDGFRA, KIT
protein kinase activity (GO:0004672) 3.272PDGFRA, KIT
phosphatidylinositol 3-kinase activity (GO:0035004) 5.492PDGFRA, KIT
methyltransferase activity (GO:0008168) 4.352MTR, SHMT1
molecular function regulator (GO:0098772) 2.512PDGFRA, KIT
purine nucleoside binding (GO:0001883) 2.222PDGFRA, KIT
nucleoside binding (GO:0001882) 2.212PDGFRA, KIT
phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934) 5.612PDGFRA, KIT
cofactor transporter activity (GO:0051184) 6.692FOLR1, SLC19A1
NADP binding (GO:0050661) 5.932MTRR, MTHFR
succinate dehydrogenase activity (GO:0000104) 8.132SDHC, SDHB
vitamin transporter activity (GO:0051183) 6.562FOLR1, SLC19A1
oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627) 5.662SDHC, SDHB
transporter activity (GO:0005215) 2.572FOLR1, SLC19A1
phosphatidylinositol bisphosphate kinase activity (GO:0052813) 5.562PDGFRA, KIT
transmembrane receptor protein tyrosine kinase activity (GO:0004714) 5.552PDGFRA, KIT
transferase activity, transferring one-carbon groups (GO:0016741) 4.32MTR, SHMT1
protein tyrosine kinase activity (GO:0004713) 4.542PDGFRA, KIT
ribonucleoside binding (GO:0032549) 2.222PDGFRA, KIT
purine nucleotide binding (GO:0017076) 2.192PDGFRA, KIT
ATP binding (GO:0005524) 2.432PDGFRA, KIT
anion binding (GO:0043168) 4.172FOLR1, SHMT1
folic acid binding (GO:0005542) 7.172FOLR1, SLC19A1
coenzyme binding (GO:0050662) 4.532MTRR, MTHFR
amide binding (GO:0033218) 4.142FOLR1, SLC19A1
kinase activity (GO:0016301) 2.932PDGFRA, KIT
flavin adenine dinucleotide binding (GO:0050660) 5.412MTRR, MTHFR
electron carrier activity (GO:0009055) 4.972SDHC, SDHB
tetrapyrrole binding (GO:0046906) 4.82MTR, SDHC
phosphotransferase activity, alcohol group as acceptor (GO:0016773) 3.082PDGFRA, KIT
transferase activity, transferring phosphorus-containing groups (GO:0016772) 2.772PDGFRA, KIT
adenyl nucleotide binding (GO:0030554) 2.42PDGFRA, KIT
carboxylic acid binding (GO:0031406) 4.642FOLR1, SHMT1
transmembrane signaling receptor activity (GO:0004888) 2.572PDGFRA, KIT
adenyl ribonucleotide binding (GO:0032559) 2.412PDGFRA, KIT
purine ribonucleotide binding (GO:0032555) 2.22PDGFRA, KIT
transmembrane receptor protein kinase activity (GO:0019199) 5.322PDGFRA, KIT
purine ribonucleoside binding (GO:0032550) 2.222PDGFRA, KIT
transmembrane receptor activity (GO:0099600) 2.532PDGFRA, KIT

NET-GE enrichment

Term New enriched termICP valueGenes
anion binding (GO:0043168) -4.170.024FOLR1, SLC19A1, KIT, MTHFR, SHMT1, MTRR, PDGFRA
cofactor transporter activity (GO:0051184) -6.690.006FOLR1, SLC19A1
NADP binding (GO:0050661) -5.930.041MTRR, MTHFR
modified amino acid binding (GO:0072341) -5.560.005FOLR1, SLC19A1, MTHFR
vitamin transporter activity (GO:0051183) -6.560.018FOLR1, SLC19A1
organic acid binding (GO:0043177) -6.60.0FOLR1, SLC19A1, SHMT1, MTHFR
folic acid binding (GO:0005542) -7.170.001FOLR1, SLC19A1
folic acid transporter activity (GO:0008517) -7.790.0FOLR1, SLC19A1
carboxylic acid binding (GO:0031406) -4.640.0FOLR1, SLC19A1, SHMT1, MTHFR
vitamin binding (GO:0019842) -5.340.028FOLR1, SLC19A1, MTR
ion binding (GO:0043167) -1.360.006FOLR1, SLC19A1, MTR, KIT, MTHFR, SDHC, MTRR, SHMT1, SDHB, PDGFRA
small molecule binding (GO:0036094) -1.890.002FOLR1, SLC19A1, MTR, KIT, MTHFR, MTRR, SHMT1, PDGFRA
cofactor binding (GO:0048037) -4.160.002SHMT1, MTRR, SDHB, MTHFR
succinate dehydrogenase activity (GO:0000104) -8.130.0SDHC, SDHB
amino acid binding (GO:0016597) NEW5.710.002FOLR1, SLC19A1, SHMT1, MTHFR
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
single-organism metabolic process (GO:0044710) 1.6310FOLR1, SLC19A1, MTR, KIT, MTHFR, SDHC, MTRR, SHMT1, SDHB, PDGFRA
cellular process (GO:0009987) 0.2610FOLR1, SLC19A1, MTR, KIT, MTHFR, SDHC, MTRR, SHMT1, SDHB, PDGFRA
cellular metabolic process (GO:0044237) 0.6910FOLR1, SLC19A1, MTR, KIT, MTHFR, SDHC, MTRR, SHMT1, SDHB, PDGFRA
organic substance metabolic process (GO:0071704) 0.6310FOLR1, SLC19A1, MTR, KIT, MTHFR, SDHC, MTRR, SHMT1, SDHB, PDGFRA
single-organism cellular process (GO:0044763) 0.6510FOLR1, SLC19A1, MTR, KIT, MTHFR, SDHC, MTRR, SHMT1, SDHB, PDGFRA
metabolic process (GO:0008152) 0.5810FOLR1, SLC19A1, MTR, KIT, MTHFR, SDHC, MTRR, SHMT1, SDHB, PDGFRA
single-organism process (GO:0044699) 0.4810FOLR1, SLC19A1, MTR, KIT, MTHFR, SDHC, MTRR, SHMT1, SDHB, PDGFRA
primary metabolic process (GO:0044238) 0.698MTR, KIT, MTHFR, SDHC, MTRR, SHMT1, SDHB, PDGFRA
small molecule metabolic process (GO:0044281) 2.388FOLR1, SLC19A1, MTR, MTHFR, SDHC, MTRR, SHMT1, SDHB
organic acid metabolic process (GO:0006082) 3.018FOLR1, SLC19A1, MTR, MTHFR, SDHC, MTRR, SHMT1, SDHB
nitrogen compound metabolic process (GO:0006807) 1.137FOLR1, SLC19A1, MTR, KIT, MTHFR, SHMT1, MTRR
organonitrogen compound metabolic process (GO:1901564) 2.327FOLR1, SLC19A1, MTR, KIT, MTHFR, SHMT1, MTRR
water-soluble vitamin metabolic process (GO:0006767) 5.296FOLR1, SLC19A1, MTR, MTHFR, SHMT1, MTRR
vitamin metabolic process (GO:0006766) 4.976FOLR1, SLC19A1, MTR, MTHFR, SHMT1, MTRR
response to stimulus (GO:0050896) 1.226FOLR1, MTR, KIT, MTHFR, SHMT1, PDGFRA
cellular aromatic compound metabolic process (GO:0006725) 1.36FOLR1, SLC19A1, MTR, MTHFR, SHMT1, MTRR
pteridine-containing compound metabolic process (GO:0042558) 6.176FOLR1, SLC19A1, MTR, MTHFR, SHMT1, MTRR
cellular component organization (GO:0016043) 1.246FOLR1, MTR, KIT, MTHFR, SHMT1, PDGFRA
organic cyclic compound metabolic process (GO:1901360) 1.266FOLR1, SLC19A1, MTR, MTHFR, SHMT1, MTRR
response to chemical (GO:0042221) 1.986FOLR1, MTR, KIT, MTHFR, SHMT1, PDGFRA
cellular component organization or biogenesis (GO:0071840) 1.226FOLR1, MTR, KIT, MTHFR, SHMT1, PDGFRA
heterocycle metabolic process (GO:0046483) 1.316FOLR1, SLC19A1, MTR, MTHFR, SHMT1, MTRR
response to oxygen-containing compound (GO:1901700) 2.575FOLR1, SHMT1, MTR, PDGFRA, MTHFR
cellular response to stimulus (GO:0051716) 1.975FOLR1, MTR, KIT, PDGFRA, SHMT1
cofactor metabolic process (GO:0051186) 3.915FOLR1, SHMT1, SLC19A1, MTRR, MTHFR
cellular modified amino acid metabolic process (GO:0006575) 4.695FOLR1, SHMT1, SLC19A1, MTRR, MTHFR
cellular amide metabolic process (GO:0043603) 3.235SLC19A1, FOLR1, MTRR, SHMT1, MTHFR
coenzyme metabolic process (GO:0006732) 4.145FOLR1, SHMT1, SLC19A1, MTRR, MTHFR
cellular nitrogen compound metabolic process (GO:0034641) 1.225FOLR1, SHMT1, SLC19A1, MTRR, MTHFR
carboxylic acid metabolic process (GO:0019752) 3.125SHMT1, MTR, MTRR, SDHB, MTHFR
response to stress (GO:0006950) 1.85FOLR1, MTR, KIT, PDGFRA, MTHFR
biological regulation (GO:0065007) 0.395FOLR1, PDGFRA, KIT, MTRR, MTHFR
cellular response to chemical stimulus (GO:0070887) 2.575FOLR1, MTR, KIT, PDGFRA, SHMT1
oxoacid metabolic process (GO:0043436) 3.125SHMT1, MTR, MTRR, SDHB, MTHFR
folic acid metabolic process (GO:0046655) 6.95FOLR1, SHMT1, SLC19A1, MTRR, MTHFR
folic acid-containing compound metabolic process (GO:0006760) 6.45FOLR1, SHMT1, SLC19A1, MTRR, MTHFR
developmental process (GO:0032502) 1.364FOLR1, MTR, KIT, PDGFRA
cellular response to oxygen-containing compound (GO:1901701) 3.224FOLR1, MTR, PDGFRA, SHMT1
anatomical structure development (GO:0048856) 1.584FOLR1, MTR, KIT, PDGFRA
multicellular organismal process (GO:0032501) 1.454SLC19A1, PDGFRA, KIT, MTHFR
cellular amino acid metabolic process (GO:0006520) 4.224MTR, MTRR, SHMT1, MTHFR
regulation of cellular process (GO:0050794) 0.54FOLR1, PDGFRA, KIT, MTHFR
single-organism developmental process (GO:0044767) 1.494FOLR1, MTR, KIT, PDGFRA
cellular component assembly (GO:0022607) 2.144FOLR1, PDGFRA, KIT, SHMT1
oxidation-reduction process (GO:0055114) 2.914SDHC, MTRR, SDHB, MTHFR
macromolecule metabolic process (GO:0043170) 0.834PDGFRA, KIT, SHMT1, MTRR
alpha-amino acid metabolic process (GO:1901605) 4.54MTR, MTRR, SHMT1, MTHFR
regulation of biological process (GO:0050789) 0.454FOLR1, PDGFRA, KIT, MTHFR
response to organic substance (GO:0010033) 2.24FOLR1, KIT, SHMT1, MTHFR
regulation of primary metabolic process (GO:0080090) 1.083PDGFRA, KIT, MTHFR
regulation of metabolic process (GO:0019222) 1.023PDGFRA, KIT, MTHFR
cell projection organization (GO:0030030) 3.143FOLR1, MTR, KIT
regulation of signaling (GO:0023051) 1.723FOLR1, PDGFRA, KIT
regulation of response to stimulus (GO:0048583) 1.543FOLR1, PDGFRA, KIT
regulation of cellular component organization (GO:0051128) 2.013PDGFRA, KIT, MTHFR
cellular biosynthetic process (GO:0044249) 1.373MTR, MTRR, SHMT1
aspartate family amino acid metabolic process (GO:0009066) 5.723MTR, MTRR, MTHFR
small molecule biosynthetic process (GO:0044283) 3.793MTR, MTRR, SHMT1
regulation of cell communication (GO:0010646) 1.733FOLR1, PDGFRA, KIT
cell migration (GO:0016477) 3.123FOLR1, PDGFRA, KIT
response to endogenous stimulus (GO:0009719) 2.793FOLR1, KIT, MTHFR
organic substance biosynthetic process (GO:1901576) 1.343MTR, MTRR, SHMT1
single-organism biosynthetic process (GO:0044711) 2.83MTR, MTRR, SHMT1
cellular macromolecule metabolic process (GO:0044260) 0.933PDGFRA, KIT, MTRR
regulation of signal transduction (GO:0009966) 1.843FOLR1, PDGFRA, KIT
regulation of protein metabolic process (GO:0051246) 1.933PDGFRA, KIT, MTHFR
response to wounding (GO:0009611) 4.393FOLR1, MTR, PDGFRA
macromolecular complex subunit organization (GO:0043933) 2.143FOLR1, SHMT1, MTHFR
transport (GO:0006810) 1.513FOLR1, SLC19A1, KIT
regulation of protein modification process (GO:0031399) 2.323PDGFRA, KIT, MTHFR
regulation of molecular function (GO:0065009) 1.783PDGFRA, KIT, MTRR
methylation (GO:0032259) 4.063MTR, MTRR, SHMT1
alpha-amino acid biosynthetic process (GO:1901607) 5.513MTR, MTRR, SHMT1
organelle organization (GO:0006996) 2.023FOLR1, PDGFRA, KIT
sulfur amino acid metabolic process (GO:0000096) 6.473MTR, MTRR, MTHFR
biosynthetic process (GO:0009058) 1.323MTR, MTRR, SHMT1
regulation of macromolecule metabolic process (GO:0060255) 1.083PDGFRA, KIT, MTHFR
regulation of cellular metabolic process (GO:0031323) 1.073PDGFRA, KIT, MTHFR
regulation of catalytic activity (GO:0050790) 1.973PDGFRA, KIT, MTRR
movement of cell or subcellular component (GO:0006928) 2.613FOLR1, PDGFRA, KIT
reproductive process (GO:0022414) 2.553SLC19A1, PDGFRA, KIT
single-organism transport (GO:0044765) 2.183FOLR1, SLC19A1, KIT
establishment of localization (GO:0051234) 1.483FOLR1, SLC19A1, KIT
localization (GO:0051179) 1.43SLC19A1, FOLR1, KIT
single-organism localization (GO:1902578) 2.093FOLR1, SLC19A1, KIT
locomotion (GO:0040011) 2.913FOLR1, PDGFRA, KIT
cellular amino acid biosynthetic process (GO:0008652) 5.493MTR, MTRR, SHMT1
regulation of cellular protein metabolic process (GO:0032268) 1.993PDGFRA, KIT, MTHFR
response to external stimulus (GO:0009605) 2.553FOLR1, KIT, MTHFR
organonitrogen compound biosynthetic process (GO:1901566) 2.853MTR, MTRR, SHMT1
cell motility (GO:0048870) 3.023FOLR1, PDGFRA, KIT
protein metabolic process (GO:0019538) 1.453PDGFRA, KIT, SHMT1
carbohydrate derivative metabolic process (GO:1901135) 3.073KIT, MTRR, SHMT1
methionine metabolic process (GO:0006555) 6.843MTR, MTRR, MTHFR
macromolecule modification (GO:0043412) 1.733PDGFRA, KIT, MTRR
organic acid biosynthetic process (GO:0016053) 4.263MTR, MTRR, SHMT1
carboxylic acid biosynthetic process (GO:0046394) 4.323MTR, MTRR, SHMT1
phosphate-containing compound metabolic process (GO:0006796) 2.163PDGFRA, KIT, SHMT1
sulfur compound metabolic process (GO:0006790) 3.873MTR, MTRR, MTHFR
cellular response to stress (GO:0033554) 2.513FOLR1, MTR, PDGFRA
phosphorus metabolic process (GO:0006793) 2.153PDGFRA, KIT, SHMT1
organophosphate metabolic process (GO:0019637) 3.043PDGFRA, KIT, SHMT1
response to nitrogen compound (GO:1901698) 3.123FOLR1, MTR, MTHFR
regulation of phosphate metabolic process (GO:0019220) 2.352PDGFRA, KIT
positive regulation of response to stimulus (GO:0048584) 2.182PDGFRA, KIT
response to axon injury (GO:0048678) 5.862FOLR1, MTR
signal transduction (GO:0007165) 1.282PDGFRA, KIT
small molecule catabolic process (GO:0044282) 3.992MTRR, SHMT1
enzyme linked receptor protein signaling pathway (GO:0007167) 3.242PDGFRA, KIT
transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) 3.542PDGFRA, KIT
signal transduction by protein phosphorylation (GO:0023014) 3.792PDGFRA, KIT
single-organism catabolic process (GO:0044712) 3.212MTRR, SHMT1
regulation of localization (GO:0032879) 1.942PDGFRA, KIT
positive regulation of macromolecule metabolic process (GO:0010604) 1.812PDGFRA, KIT
taxis (GO:0042330) 4.032PDGFRA, KIT
positive regulation of signal transduction (GO:0009967) 2.52PDGFRA, KIT
MAPK cascade (GO:0000165) 3.912PDGFRA, KIT
peptidyl-amino acid modification (GO:0018193) 2.982PDGFRA, KIT
rhythmic process (GO:0048511) 4.022PDGFRA, KIT
electron transport chain (GO:0022900) 5.092SDHC, SDHB
positive regulation of lipid metabolic process (GO:0045834) 4.882PDGFRA, KIT
positive regulation of molecular function (GO:0044093) 2.232PDGFRA, KIT
respiratory electron transport chain (GO:0022904) 5.112SDHC, SDHB
positive regulation of biological process (GO:0048518) 1.22PDGFRA, KIT
negative regulation of biological process (GO:0048519) 1.332PDGFRA, KIT
system process (GO:0003008) 2.32KIT, MTHFR
S-adenosylmethionine metabolic process (GO:0046500) 6.842MTRR, MTHFR
regulation of cell proliferation (GO:0042127) 2.412PDGFRA, KIT
aspartate family amino acid biosynthetic process (GO:0009067) 6.592MTR, MTRR
axon regeneration (GO:0031103) 6.642FOLR1, MTR
neuron projection regeneration (GO:0031102) 6.292FOLR1, MTR
organic acid transport (GO:0015849) 4.932FOLR1, SLC19A1
tetrahydrofolate metabolic process (GO:0046653) 6.732SHMT1, MTHFR
response to folic acid (GO:0051593) 7.022FOLR1, MTHFR
regulation of phospholipase C activity (GO:1900274) 6.072PDGFRA, KIT
phosphatidylinositol metabolic process (GO:0046488) 4.462PDGFRA, KIT
glycerolipid metabolic process (GO:0046486) 3.912PDGFRA, KIT
multi-organism process (GO:0051704) 2.652SLC19A1, PDGFRA
regulation of phosphorylation (GO:0042325) 2.52PDGFRA, KIT
cellular catabolic process (GO:0044248) 2.622MTRR, SHMT1
positive regulation of phosphorylation (GO:0042327) 2.92PDGFRA, KIT
single organism reproductive process (GO:0044702) 2.732PDGFRA, KIT
organonitrogen compound catabolic process (GO:1901565) 3.912MTRR, SHMT1
single-multicellular organism process (GO:0044707) 1.782PDGFRA, KIT
response to organonitrogen compound (GO:0010243) 3.22FOLR1, MTHFR
response to nutrient levels (GO:0031667) 3.772FOLR1, MTHFR
organic acid catabolic process (GO:0016054) 4.442MTRR, SHMT1
response to acid chemical (GO:0001101) 4.052FOLR1, MTHFR
positive regulation of GTPase activity (GO:0043547) 3.282PDGFRA, KIT
positive regulation of metabolic process (GO:0009893) 1.742PDGFRA, KIT
ovulation cycle process (GO:0022602) 5.252PDGFRA, KIT
positive regulation of kinase activity (GO:0033674) 3.542PDGFRA, KIT
cell chemotaxis (GO:0060326) 4.632PDGFRA, KIT
positive regulation of cell migration (GO:0030335) 3.772PDGFRA, KIT
response to reactive oxygen species (GO:0000302) 4.52MTR, PDGFRA
aerobic respiration (GO:0009060) 6.42SDHC, SDHB
vesicle-mediated transport (GO:0016192) 2.722FOLR1, KIT
positive regulation of phospholipase C activity (GO:0010863) 6.152PDGFRA, KIT
neuron projection development (GO:0031175) 4.582FOLR1, MTR
actin filament-based process (GO:0030029) 3.942PDGFRA, KIT
intracellular signal transduction (GO:0035556) 2.392PDGFRA, KIT
ameboidal-type cell migration (GO:0001667) 4.712FOLR1, KIT
cellular protein metabolic process (GO:0044267) 1.632PDGFRA, KIT
organic substance catabolic process (GO:1901575) 2.452MTRR, SHMT1
positive regulation of transferase activity (GO:0051347) 3.312PDGFRA, KIT
vitamin transport (GO:0051180) 6.22FOLR1, SLC19A1
positive regulation of hydrolase activity (GO:0051345) 2.912PDGFRA, KIT
regulation of kinase activity (GO:0043549) 3.072PDGFRA, KIT
tetrahydrofolate interconversion (GO:0035999) 7.332SHMT1, MTHFR
macromolecular complex assembly (GO:0065003) 2.552FOLR1, SHMT1
tetrapyrrole metabolic process (GO:0033013) 5.652MTR, MTRR
positive regulation of catalytic activity (GO:0043085) 2.42PDGFRA, KIT
phosphatidylinositol phosphorylation (GO:0046854) 5.192PDGFRA, KIT
regulation of biological quality (GO:0065008) 1.682PDGFRA, KIT
anatomical structure formation involved in morphogenesis (GO:0048646) 3.012FOLR1, PDGFRA
single organism cell adhesion (GO:0098602) 3.632PDGFRA, KIT
axon development (GO:0061564) 6.362FOLR1, MTR
lipid metabolic process (GO:0006629) 2.682PDGFRA, KIT
positive regulation of lipid kinase activity (GO:0090218) 6.232PDGFRA, KIT
cell-cell adhesion (GO:0098609) 3.342PDGFRA, KIT
regulation of biosynthetic process (GO:0009889) 1.372PDGFRA, KIT
positive regulation of MAPK cascade (GO:0043410) 3.572PDGFRA, KIT
cell activation (GO:0001775) 3.472PDGFRA, KIT
protein modification process (GO:0036211) 1.792PDGFRA, KIT
cellular respiration (GO:0045333) 5.92SDHC, SDHB
regulation of multicellular organismal process (GO:0051239) 1.872PDGFRA, KIT
positive regulation of intracellular signal transduction (GO:1902533) 2.952PDGFRA, KIT
regulation of intracellular signal transduction (GO:1902531) 2.312PDGFRA, KIT
phosphatidylinositol-mediated signaling (GO:0048015) 4.932PDGFRA, KIT
inositol lipid-mediated signaling (GO:0048017) 4.912PDGFRA, KIT
regulation of hydrolase activity (GO:0051336) 2.532PDGFRA, KIT
regulation of lipid kinase activity (GO:0043550) 5.842PDGFRA, KIT
positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552) 6.292PDGFRA, KIT
energy derivation by oxidation of organic compounds (GO:0015980) 4.932SDHC, SDHB
intracellular transport (GO:0046907) 2.672FOLR1, KIT
positive regulation of protein modification process (GO:0031401) 2.72PDGFRA, KIT
regulation of transferase activity (GO:0051338) 2.882PDGFRA, KIT
regulation of macromolecule biosynthetic process (GO:0010556) 1.432PDGFRA, KIT
regulation of cell motility (GO:2000145) 3.162PDGFRA, KIT
positive regulation of cell motility (GO:2000147) 3.742PDGFRA, KIT
positive regulation of lipase activity (GO:0060193) 5.542PDGFRA, KIT
regulation of lipase activity (GO:0060191) 5.312PDGFRA, KIT
regulation of organelle organization (GO:0033043) 2.722PDGFRA, MTHFR
peptidyl-tyrosine modification (GO:0018212) 4.472PDGFRA, KIT
one-carbon metabolic process (GO:0006730) 6.152SHMT1, MTHFR
positive regulation of signaling (GO:0023056) 2.412PDGFRA, KIT
positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068) 5.592PDGFRA, KIT
regulation of phospholipid metabolic process (GO:1903725) 5.692PDGFRA, KIT
positive regulation of cell communication (GO:0010647) 2.412PDGFRA, KIT
anatomical structure morphogenesis (GO:0009653) 2.532FOLR1, PDGFRA
regulation of GTPase activity (GO:0043087) 3.212PDGFRA, KIT
protein autophosphorylation (GO:0046777) 4.462PDGFRA, KIT
response to organic cyclic compound (GO:0014070) 3.072FOLR1, MTHFR
regulation of MAPK cascade (GO:0043408) 3.222PDGFRA, KIT
nucleobase-containing compound metabolic process (GO:0006139) 1.352MTRR, SHMT1
amide transport (GO:0042886) 5.192FOLR1, SLC19A1
positive regulation of phospholipid metabolic process (GO:1903727) 5.992PDGFRA, KIT
positive regulation of phosphorus metabolic process (GO:0010562) 2.782PDGFRA, KIT
regeneration (GO:0031099) 4.72FOLR1, MTR
positive regulation of protein metabolic process (GO:0051247) 2.432PDGFRA, KIT
lipid phosphorylation (GO:0046834) 5.132PDGFRA, KIT
response to vitamin (GO:0033273) 5.112FOLR1, MTHFR
positive regulation of cellular protein metabolic process (GO:0032270) 2.492PDGFRA, KIT
biological adhesion (GO:0022610) 2.812PDGFRA, KIT
alpha-amino acid catabolic process (GO:1901606) 5.542MTRR, SHMT1
positive regulation of cell proliferation (GO:0008284) 3.012PDGFRA, KIT
regulation of phosphatidylinositol 3-kinase activity (GO:0043551) 6.022PDGFRA, KIT
phospholipid metabolic process (GO:0006644) 3.882PDGFRA, KIT
response to abiotic stimulus (GO:0009628) 2.82KIT, MTHFR
regulation of cell differentiation (GO:0045595) 2.422PDGFRA, KIT
regulation of locomotion (GO:0040012) 3.122PDGFRA, KIT
actin cytoskeleton organization (GO:0030036) 4.12PDGFRA, KIT
cellular lipid metabolic process (GO:0044255) 2.922PDGFRA, KIT
regulation of phosphatidylinositol 3-kinase signaling (GO:0014066) 4.792PDGFRA, KIT
lipid modification (GO:0030258) 4.372PDGFRA, KIT
response to oxidative stress (GO:0006979) 3.92MTR, PDGFRA
nucleobase-containing small molecule metabolic process (GO:0055086) 3.592MTRR, SHMT1
folic acid transport (GO:0015884) 7.652FOLR1, SLC19A1
phosphorylation (GO:0016310) 2.632PDGFRA, KIT
system development (GO:0048731) 2.922MTR, PDGFRA
methionine biosynthetic process (GO:0009086) 7.092MTR, MTRR
cellular response to endogenous stimulus (GO:0071495) 3.332FOLR1, KIT
response to extracellular stimulus (GO:0009991) 3.712FOLR1, MTHFR
cellular response to nitrogen compound (GO:1901699) 3.792FOLR1, MTR
single organismal cell-cell adhesion (GO:0016337) 3.692PDGFRA, KIT
glycerophospholipid metabolic process (GO:0006650) 4.132PDGFRA, KIT
regulation of cellular biosynthetic process (GO:0031326) 1.382PDGFRA, KIT
positive regulation of cellular metabolic process (GO:0031325) 1.812PDGFRA, KIT
cobalamin metabolic process (GO:0009235) 6.682MTR, MTRR
peptidyl-tyrosine phosphorylation (GO:0018108) 4.482PDGFRA, KIT
tricarboxylic acid cycle (GO:0006099) 6.332SDHC, SDHB
purine-containing compound metabolic process (GO:0072521) 4.02MTRR, SHMT1
generation of precursor metabolites and energy (GO:0006091) 4.072SDHC, SDHB
modified amino acid transport (GO:0072337) 6.512FOLR1, SLC19A1
chemotaxis (GO:0006935) 4.042PDGFRA, KIT
homocysteine metabolic process (GO:0050667) 7.332MTRR, MTHFR
protein complex subunit organization (GO:0071822) 2.62FOLR1, SHMT1
cell surface receptor signaling pathway (GO:0007166) 2.092PDGFRA, KIT
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462PDGFRA, KIT
nitrogen compound transport (GO:0071705) 3.542FOLR1, SLC19A1
cellular response to organic substance (GO:0071310) 2.782FOLR1, KIT
organic substance transport (GO:0071702) 2.152FOLR1, SLC19A1
embryonic morphogenesis (GO:0048598) 3.722FOLR1, PDGFRA
protein phosphorylation (GO:0006468) 2.892PDGFRA, KIT
regulation of cell migration (GO:0030334) 3.232PDGFRA, KIT
positive regulation of phosphate metabolic process (GO:0045937) 2.782PDGFRA, KIT
regulation of lipid metabolic process (GO:0019216) 4.082PDGFRA, KIT
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432PDGFRA, KIT
response to nutrient (GO:0007584) 4.492FOLR1, MTHFR
protein complex assembly (GO:0006461) 2.782FOLR1, SHMT1
cellular response to reactive oxygen species (GO:0034614) 5.222MTR, PDGFRA
cellular protein modification process (GO:0006464) 1.792PDGFRA, KIT
regulation of phosphorus metabolic process (GO:0051174) 2.352PDGFRA, KIT
regulation of nitrogen compound metabolic process (GO:0051171) 1.362PDGFRA, KIT
establishment of localization in cell (GO:0051649) 2.472FOLR1, KIT
cell adhesion (GO:0007155) 2.822PDGFRA, KIT
cofactor transport (GO:0051181) 6.472FOLR1, SLC19A1
cellular response to oxidative stress (GO:0034599) 4.72MTR, PDGFRA
catabolic process (GO:0009056) 2.382MTRR, SHMT1
cellular localization (GO:0051641) 2.322FOLR1, KIT
positive regulation of cellular component movement (GO:0051272) 3.712PDGFRA, KIT
regulation of cellular component movement (GO:0051270) 3.082PDGFRA, KIT
cytoskeleton organization (GO:0007010) 3.222PDGFRA, KIT
positive regulation of locomotion (GO:0040017) 3.712PDGFRA, KIT
positive regulation of phospholipase activity (GO:0010518) 5.762PDGFRA, KIT
single-organism organelle organization (GO:1902589) 2.682PDGFRA, KIT
regulation of phospholipase activity (GO:0010517) 5.572PDGFRA, KIT
serine family amino acid metabolic process (GO:0009069) 6.022MTRR, SHMT1
regulation of protein phosphorylation (GO:0001932) 2.572PDGFRA, KIT
positive regulation of protein phosphorylation (GO:0001934) 2.952PDGFRA, KIT
negative regulation of cellular process (GO:0048523) 1.412PDGFRA, KIT
positive regulation of cellular process (GO:0048522) 1.32PDGFRA, KIT

NET-GE enrichment

Term New enriched termICP valueGenes
coenzyme metabolic process (GO:0006732) -4.140.001FOLR1, SHMT1, SLC19A1, MTRR, MTHFR
cobalamin metabolic process (GO:0009235) -6.680.032MTR, MTRR
carboxylic acid metabolic process (GO:0019752) -3.120.0FOLR1, SLC19A1, MTR, MTHFR, MTRR, SHMT1, SDHB
aerobic respiration (GO:0009060) -6.40.039SDHC, SDHB
aspartate family amino acid biosynthetic process (GO:0009067) -6.590.0MTR, MTRR, MTHFR
small molecule metabolic process (GO:0044281) -2.380.006FOLR1, SLC19A1, MTR, MTHFR, SDHC, MTRR, SHMT1, SDHB
small molecule biosynthetic process (GO:0044283) -3.790.027MTR, MTRR, SHMT1, MTHFR
modified amino acid transport (GO:0072337) -6.510.029FOLR1, SLC19A1
folic acid metabolic process (GO:0046655) -6.90.0SLC19A1, FOLR1, MTRR, SHMT1, MTHFR
tetrahydrofolate metabolic process (GO:0046653) -6.730.029SHMT1, MTHFR
single-organism metabolic process (GO:0044710) -1.630.001FOLR1, SLC19A1, MTR, KIT, MTHFR, SDHC, MTRR, SHMT1, SDHB, PDGFRA
cofactor metabolic process (GO:0051186) -3.910.007FOLR1, SHMT1, SLC19A1, MTRR, MTHFR
cofactor transport (GO:0051181) -6.470.043FOLR1, SLC19A1
cellular amino acid metabolic process (GO:0006520) -4.220.006FOLR1, SLC19A1, MTR, MTHFR, SHMT1, MTRR
tetrahydrofolate interconversion (GO:0035999) -7.330.034SHMT1, MTHFR
pteridine-containing compound metabolic process (GO:0042558) -6.170.0FOLR1, SLC19A1, MTR, MTHFR, SHMT1, MTRR
alpha-amino acid metabolic process (GO:1901605) -4.50.0FOLR1, SLC19A1, MTR, MTHFR, SHMT1, MTRR
alpha-amino acid biosynthetic process (GO:1901607) -5.510.0MTR, MTRR, SHMT1, MTHFR
water-soluble vitamin metabolic process (GO:0006767) -5.290.0FOLR1, SLC19A1, MTR, MTHFR, SHMT1, MTRR
vitamin metabolic process (GO:0006766) -4.970.0FOLR1, SLC19A1, MTR, MTHFR, SHMT1, MTRR
folic acid-containing compound metabolic process (GO:0006760) -6.40.0SLC19A1, FOLR1, MTRR, SHMT1, MTHFR
cellular amino acid biosynthetic process (GO:0008652) -5.490.003MTR, MTRR, SHMT1, MTHFR
sulfur amino acid biosynthetic process (GO:0000097) NEW8.340.0MTR, MTRR, MTHFR
sulfur amino acid metabolic process (GO:0000096) -6.470.001MTR, MTRR, MTHFR
oxoacid metabolic process (GO:0043436) -3.120.0FOLR1, SLC19A1, MTR, MTHFR, MTRR, SHMT1, SDHB
dicarboxylic acid metabolic process (GO:0043648) NEW5.30.0FOLR1, SLC19A1, MTHFR, MTRR, SHMT1, SDHB
organonitrogen compound metabolic process (GO:1901564) -2.320.006FOLR1, SLC19A1, MTR, KIT, MTHFR, SHMT1, MTRR
cellular modified amino acid metabolic process (GO:0006575) -4.690.0SLC19A1, FOLR1, MTRR, SHMT1, MTHFR
organic acid metabolic process (GO:0006082) -3.010.0FOLR1, SLC19A1, MTR, MTHFR, MTRR, SHMT1, SDHB
sulfur compound biosynthetic process (GO:0044272) NEW4.50.037MTR, MTRR, MTHFR
folic acid transport (GO:0015884) -7.650.004FOLR1, SLC19A1
methionine metabolic process (GO:0006555) -6.840.0MTR, MTRR, MTHFR
organic acid biosynthetic process (GO:0016053) -4.260.006MTR, MTRR, SHMT1, MTHFR
carboxylic acid biosynthetic process (GO:0046394) -4.320.006MTR, MTRR, SHMT1, MTHFR
methionine biosynthetic process (GO:0009086) -7.090.0MTR, MTRR, MTHFR
aspartate family amino acid metabolic process (GO:0009066) -5.720.004MTR, MTRR, MTHFR
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.1110FOLR1, SLC19A1, MTR, KIT, MTHFR, SDHC, MTRR, SHMT1, SDHB, PDGFRA
intracellular part (GO:0044424) 0.289FOLR1, MTR, KIT, MTHFR, SDHC, MTRR, SHMT1, SDHB, PDGFRA
cytoplasmic part (GO:0044444) 0.828FOLR1, MTR, KIT, MTHFR, SDHC, MTRR, SHMT1, SDHB
intracellular organelle (GO:0043229) 0.517FOLR1, SDHC, KIT, MTRR, SHMT1, SDHB, PDGFRA
organelle (GO:0043226) 0.47FOLR1, SDHC, KIT, MTRR, SHMT1, SDHB, PDGFRA
membrane part (GO:0044425) 0.956FOLR1, SLC19A1, SDHC, KIT, SDHB, PDGFRA
membrane (GO:0016020) 0.686FOLR1, SLC19A1, SDHC, KIT, SDHB, PDGFRA
membrane-bounded organelle (GO:0043227) 0.476FOLR1, SDHC, KIT, SHMT1, SDHB, PDGFRA
intracellular membrane-bounded organelle (GO:0043231) 0.66FOLR1, SDHC, KIT, SHMT1, SDHB, PDGFRA
cytoplasm (GO:0005737) 1.015SHMT1, MTR, KIT, PDGFRA, MTRR
integral component of membrane (GO:0016021) 1.145SLC19A1, FOLR1, SDHC, KIT, PDGFRA
intrinsic component of membrane (GO:0031224) 1.135FOLR1, SLC19A1, SDHC, KIT, PDGFRA
plasma membrane (GO:0005886) 1.395FOLR1, SLC19A1, PDGFRA, KIT, SDHB
vesicle (GO:0031982) 1.644FOLR1, KIT, SHMT1, SDHB
cytosol (GO:0005829) 1.684MTR, MTRR, SHMT1, MTHFR
membrane-bounded vesicle (GO:0031988) 1.714FOLR1, KIT, SHMT1, SDHB
intracellular organelle part (GO:0044446) 0.814FOLR1, SDHC, MTRR, SDHB
plasma membrane part (GO:0044459) 1.954FOLR1, SLC19A1, PDGFRA, KIT
extracellular region part (GO:0044421) 1.574FOLR1, KIT, SHMT1, SDHB
organelle part (GO:0044422) 0.794FOLR1, SDHC, MTRR, SDHB
protein complex (GO:0043234) 1.513PDGFRA, SDHC, SDHB
extracellular organelle (GO:0043230) 1.893FOLR1, SHMT1, SDHB
organelle membrane (GO:0031090) 1.973FOLR1, SDHC, SDHB
nucleus (GO:0005634) 1.073FOLR1, PDGFRA, SHMT1
mitochondrion (GO:0005739) 2.423SDHC, SHMT1, SDHB
integral component of plasma membrane (GO:0005887) 2.573FOLR1, SLC19A1, PDGFRA
macromolecular complex (GO:0032991) 1.353PDGFRA, SDHC, SDHB
extracellular vesicle (GO:1903561) 1.893FOLR1, SHMT1, SDHB
intrinsic component of plasma membrane (GO:0031226) 2.533FOLR1, SLC19A1, PDGFRA
extracellular exosome (GO:0070062) 1.893FOLR1, SHMT1, SDHB
plasma membrane region (GO:0098590) 2.972FOLR1, SLC19A1
respiratory chain complex (GO:0098803) 5.472SDHC, SDHB
oxidoreductase complex (GO:1990204) 5.192SDHC, SDHB
mitochondrial membrane part (GO:0044455) 4.542SDHC, SDHB
membrane protein complex (GO:0098796) 2.842SDHC, SDHB
vacuole (GO:0005773) 2.922FOLR1, KIT
cytoplasmic vesicle (GO:0031410) 2.872FOLR1, KIT
fumarate reductase complex (GO:0045283) 8.422SDHC, SDHB
succinate dehydrogenase complex (GO:0045281) 8.422SDHC, SDHB
inner mitochondrial membrane protein complex (GO:0098800) 5.012SDHC, SDHB
nucleoplasm (GO:0005654) 1.892MTRR, SDHB
catalytic complex (GO:1902494) 2.92SDHC, SDHB
cytoplasmic, membrane-bounded vesicle (GO:0016023) 3.122FOLR1, KIT
apical plasma membrane (GO:0016324) 4.132FOLR1, SLC19A1
cell surface (GO:0009986) 3.442FOLR1, KIT
cell projection membrane (GO:0031253) 4.112FOLR1, SLC19A1
mitochondrial membrane (GO:0031966) 3.312SDHC, SDHB
intracellular vesicle (GO:0097708) 2.862FOLR1, KIT
basolateral plasma membrane (GO:0016323) 4.562FOLR1, SLC19A1
respiratory chain complex II (GO:0045273) 9.112SDHC, SDHB
succinate dehydrogenase complex (ubiquinone) (GO:0045257) 8.422SDHC, SDHB
cell projection part (GO:0044463) 2.972FOLR1, SLC19A1
organelle inner membrane (GO:0019866) 3.562SDHC, SDHB
brush border membrane (GO:0031526) 5.782FOLR1, SLC19A1
mitochondrial inner membrane (GO:0005743) 3.652SDHC, SDHB
nuclear part (GO:0044428) 1.552MTRR, SDHB
mitochondrial part (GO:0044429) 2.922SDHC, SDHB
mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) (GO:0005749) 8.422SDHC, SDHB
mitochondrial protein complex (GO:0098798) 4.782SDHC, SDHB

NET-GE enrichment

Term New enriched termICP valueGenes
succinate dehydrogenase complex (ubiquinone) (GO:0045257) -8.420.0SDHC, SDHB
mitochondrial respiratory chain complex II (GO:0005749) -8.420.0SDHC, SDHB
fumarate reductase complex (GO:0045283) -8.420.0SDHC, SDHB
succinate dehydrogenase complex (GO:0045281) -8.420.0SDHC, SDHB