Disease table of EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE OMIM ID: 131760

Gene-disease associations table

GeneAssociated with EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
KRT14ClinVar, OMIM, HUMSAVARHGNC link17q21.26601001, 131800, 161000, 125595, 131760, 131900
KRT5ClinVar, OMIM, HUMSAVARHGNC link12q13.137601001, 131800, 131900, 131960, 609352, 131760, PS179850

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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
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, ODC12KRT5, KRT14
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
KRT14YES1SP10
KRT5YES3SP1, BRCA1, TFAP2A0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
KRT14KRT5Yes32UBASH3B, EIF4A3, NPHP4, AP2M1, CUL1, INPPL1, CCDC8, HNRNPA1, APC, MAGOH, CRK, CAND1, CUL4B, PIK3R2, COPS5, RPS6KB2, IQCB1, SHC1, INVS, EPS15, OBSL1, CEP290, NPHP1, CUL2, CUL5, NEDD8, CBL, ALB, KRT3, CUL7, GRB2, CUL3

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
KRT14KRT5Yesbinding2UBC, MAGOH

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

Interactions from CORUM
Interactions from CENSUS
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
KRT14KRT5Yes1KRT3

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

Interactions from PDB
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
KRT14KRT5Yes2KRT5, KRT14

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

Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Cell-Cell communicationR-HSA-15009315.872KRT5, KRT14
Cell junction organizationR-HSA-4467286.512KRT5, KRT14
Type I hemidesmosome assemblyR-HSA-4461079.522KRT5, KRT14

NET-GE enrichment

Term New enriched termICP valueGenes
Cell-Cell communication (R-HSA-1500931) -5.870.004KRT5, KRT14
Cell junction organization (R-HSA-446728) -6.510.001KRT5, KRT14
Type I hemidesmosome assembly (R-HSA-446107) -9.520.0KRT5, KRT14
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
structural constituent of cytoskeleton (GO:0005200) 5.122KRT5, KRT14
binding (GO:0005488) 0.182KRT5, KRT14
protein binding (GO:0005515) 0.462KRT5, KRT14
structural molecule activity (GO:0005198) 3.12KRT5, KRT14

NET-GE enrichment

Term New enriched termICP valueGenes
structural constituent of cytoskeleton (GO:0005200) -5.120.0KRT5, KRT14
structural molecule activity (GO:0005198) -3.10.014KRT5, KRT14
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.362KRT5, KRT14
cellular component assembly (GO:0022607) 2.142KRT5, KRT14
hemidesmosome assembly (GO:0031581) 7.242KRT5, KRT14
cell junction organization (GO:0034330) 4.512KRT5, KRT14
tissue development (GO:0009888) 3.272KRT5, KRT14
cellular component organization (GO:0016043) 1.242KRT5, KRT14
cell-substrate junction assembly (GO:0007044) 5.992KRT5, KRT14
single-organism cellular process (GO:0044763) 0.652KRT5, KRT14
single-organism process (GO:0044699) 0.482KRT5, KRT14
cellular process (GO:0009987) 0.262KRT5, KRT14
epidermis development (GO:0008544) 5.042KRT5, KRT14
cell junction assembly (GO:0034329) 4.862KRT5, KRT14
cellular component organization or biogenesis (GO:0071840) 1.222KRT5, KRT14
anatomical structure development (GO:0048856) 1.582KRT5, KRT14

NET-GE enrichment

Term New enriched termICP valueGenes
cell junction organization (GO:0034330) -4.510.004KRT5, KRT14
hemidesmosome assembly (GO:0031581) -7.240.0KRT5, KRT14
epithelium development (GO:0060429) NEW4.570.008KRT5, KRT14
cell-substrate junction assembly (GO:0007044) -5.990.002KRT5, KRT14
epidermis development (GO:0008544) -5.040.002KRT5, KRT14
cell junction assembly (GO:0034329) -4.860.003KRT5, KRT14
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
supramolecular fiber (GO:0099512) 3.312KRT5, KRT14
polymeric cytoskeletal fiber (GO:0099513) 3.312KRT5, KRT14
keratin filament (GO:0045095) 5.212KRT5, KRT14
intracellular organelle (GO:0043229) 0.512KRT5, KRT14
membrane-bounded organelle (GO:0043227) 0.472KRT5, KRT14
organelle (GO:0043226) 0.42KRT5, KRT14
cytoplasm (GO:0005737) 1.012KRT5, KRT14
vesicle (GO:0031982) 1.642KRT5, KRT14
nucleus (GO:0005634) 1.072KRT5, KRT14
membrane-bounded vesicle (GO:0031988) 1.712KRT5, KRT14
cytoskeletal part (GO:0044430) 2.492KRT5, KRT14
intermediate filament (GO:0005882) 4.482KRT5, KRT14
extracellular vesicle (GO:1903561) 1.892KRT5, KRT14
extracellular exosome (GO:0070062) 1.892KRT5, KRT14
extracellular organelle (GO:0043230) 1.892KRT5, KRT14
intracellular membrane-bounded organelle (GO:0043231) 0.62KRT5, KRT14
cytosol (GO:0005829) 1.682KRT5, KRT14
cell part (GO:0044464) 0.112KRT5, KRT14
intracellular organelle part (GO:0044446) 0.812KRT5, KRT14
cytoplasmic part (GO:0044444) 0.822KRT5, KRT14
intracellular part (GO:0044424) 0.282KRT5, KRT14
extracellular region part (GO:0044421) 1.572KRT5, KRT14
organelle part (GO:0044422) 0.792KRT5, KRT14

NET-GE enrichment

Term New enriched termICP valueGenes
keratin filament (GO:0045095) -5.210.001KRT5, KRT14
intermediate filament (GO:0005882) -4.480.003KRT5, KRT14