Disease table of EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE OMIM ID: 226600

Gene-disease associations table

GeneAssociated with EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
COL7A1ClinVar, OMIM, HUMSAVARHGNC link3p21.317604129, 132000, 226600, PS161050, 131750, 131705, 131850
MMP1OMIMHGNC link11q22.23606963, 610504, 226600

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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
RELANO302NRF1, OXTR, FTH1, CDK4, UPP1, IFNG, MMP2, DCST1, AGT, FLT4, EGFR, CCL4, NCAM1, VEGFA, CR2, CFI, TP53, FOXO3, CYP19A1, BGN, LPL, CXCL12, ELF3, PTHLH, IRF7, TNC, AGER, EDN1, SFTPA1, IGF2BP2, PPARA, SAA1, TSLP, GSK3A, IFNB1, GKN2, PLA2G2A, F3, IL10, KLK3, MMP12, IL17A, NR4A1, CEACAM1, AKT1, EPAS1, IL1RN, BAX, TRIB3, E2F1, PCK2, CXCL1, PTPN6, MMP3, CDK6, PIGR, ERAP1, YY1, OLFM4, IL18, LIPE, CD28, MMP9, TERT, IL4, NAMPT, BACE1, JUNB, CCR2, FASLG, ALOX5, BCL2L1, CCL11, PGR, GTF2B, CCL22, PLIN1, AKT2, BIRC3, HBEGF, CCL2, SERPINB1, MUC17, BAD, FGF7, PTGFR, TFF3, PTAFR, PTGS2, COX1, SERPINA3, ITGAX, CCND2, MCL1, TLR7, POU2F2, REPS2, TF, TFF1, SLC9A2, PLAU, TNF, FOXP3, HDAC7, MUC5B, NCOR1, FIGF, CYP3A4, SP1, CCL13, IFNA1, NOX5, MAT2A, COL7A1, HMOX1, ADORA1, TNFSF10, AR, CCR5, COL2A1, TAP1, IL1B, CD74, CD38, MUC5AC, GSTP1, MUC2, TIMP1, CCL19, CXCR4, FGF8, PDK4, CCL20, STK39, CYP3A7, GATA3, IRF4, CD58, HES1, PLAUR, SP4, NFKB1, MMP1, NOX4, BDKRB1, CASP3, CYP1A1, PTEN, HPSE, CCNB1, CD40, NOS3, ABCA1, PPARD, HIF1A, TNFRSF9, CD80, KDM2A, IL23A, TNFAIP3, TNFSF14, IL12A, TRPC1, CYP2E1, RGS4, ADORA2A, AMH, XIAP, MADCAM1, HYAL1, CFLAR, TBX21, ICAM1, BCL2L11, CHUK, TAP2, IL2RA, TLR3, ABCB1, IL17C, CCND1, KLF5, CCR7, CCK, DCST2, MMP14, FBP1, OPTN, IL1A, LTC4S, COL1A2, NOS1, WT1, BIRC5, PPIG, PTGES, THBD, CREB3, VWF, CXCL2, CRP, HLA-A, BCL2A1, BRCA2, IKBKB, GFAP, TWIST1, PSMB10, PROX1, COL1A1, TNIP3, NFKBIZ, TLR2, TNFRSF10A, S100A6, DRD2, CXCL8, BTG2, TRAF1, PTPN13, CD83, CSNK2A1, CARD8, CXCL10, CDKN1A, IL6, CFTR, CASP9, SIRT1, BMP2, IL2, IRF1, SOD2, IER3, NFKBIA, FN1, SERPINE1, MICA, TBP, CXCR2, BHMT, ABCG2, SNAI1, NOS2, PSMB9, CTSB, HSD11B2, F8, IL12B, IGF2BP1, LCN2, NOLC1, CD40LG, SELE, CCL5, FAS, ALOX5AP, OLR1, VCAM1, SDC1, SAA2, NCOR2, DEFB4A, CDH1, TRAF2, CCL3, GNRH2, HDAC1, TAPBP, CSF2, ADORA3, CRHR1, BCL3, MIF, CXCL5, TNFRSF10B, CYP27B1, NLRP2, FAF1, PTGER4, TNFRSF13C, CARM1, EBI3, ERAP2, CSF1, EPCAM, SLC25A27, RIPK2, EGR1, CD86, BCL2, CD69, BIRC2, CCR3, NPPB, GCLC, MMP13, GRIN1, SP3, MYC, STAT4, MUC62COL7A1, MMP1
NFKB1NO306NRF1, VWF, FTH1, PGLYRP2, CDK4, RGS4, IFNG, MMP2, DCST1, AGT, THBD, EGFR, GDNF, CCL4, NCAM1, VEGFA, CR2, CFI, TP53, FOXO3, CYP19A1, BGN, LPL, CXCL12, ELF3, PTHLH, HOXA9, IRF7, TNC, AGER, EDN1, HBEGF, SFTPA1, SAA1, TSLP, GSK3A, IFNB1, GKN2, TRAF2, PLA2G2A, F3, IL10, LIPE, FAF1, IL17A, CEACAM1, AKT1, KLK3, IL1RN, GSTP1, E2F1, CCR5, TAPBP, ADORA2A, CXCL1, PTPN6, MMP3, PIGR, ERAP1, YY1, OLFM4, DEFB4A, CCL2, CD28, SQSTM1, TERT, IL4, NAMPT, BACE1, JUNB, SLC9A2, FASLG, ALOX5, BCL2L1, CD83, TLR3, CCL22, PLIN1, CDKN1A, BIRC3, CSF2, CFLAR, TFPI2, MYB, IL18, SERPINB1, MUC17, TNFRSF10A, PTGFR, TFF3, PTAFR, PTGS2, COX1, SERPINA3, ITGAX, CCND2, MCL1, TLR7, POU2F2, REPS2, CD3G, TFF1, B2M, PLAU, TNF, FOXP3, HDAC7, MUC5B, CCR2, FIGF, HSD11B2, CCL13, IFNA1, NOX5, MAT2A, COL7A1, HMOX1, ADORA1, TNFSF10, AR, COL2A1, TAP1, IL1B, CD74, CD38, MUC5AC, MUC2, TIMP1, CCL19, FGF8, PDK4, CCL20, STK39, CYP3A7, MMP9, GATA3, IRF4, CD58, HES1, PLAUR, SP4, NFKB1, MMP1, NOX4, BDKRB1, CASP3, CYP1A1, PSMB9, PTEN, HPSE, CCNB1, CD40, NOS3, PTGDS, UPP1, HIF1A, TNFRSF9, CD80, TNFSF13B, IL23A, TNFAIP3, TNFSF14, IL12A, TRPC1, CYP2E1, OPRM1, HLA-F, AMH, XIAP, MADCAM1, HYAL1, A2M, CCL11, TBX21, ICAM1, BCL2L11, CHUK, TAP2, IL2RA, CTCF, ABCB1, GSK3B, CCND1, KLF5, CCR7, CCK, DCST2, MMP14, IL17C, FBP1, OPTN, IL1A, LTC4S, COL1A2, NOS1, WT1, BIRC5, PPIG, PTGES, CREB3, CXCL2, CRP, KDM2A, BCL2A1, BRCA2, IKBKB, GFAP, PSMB10, PROX1, COL1A1, TNIP3, NFKBIZ, TLR2, S100A6, DRD2, CXCL8, CD86, TRAF1, PTPN13, CSNK2A1, CARD8, CXCL10, IL6, CFTR, CASP9, ABCG2, BMP2, CRMP1, IL2, IRF1, SOD2, IER3, NFKBIA, FN1, SERPINE1, MICA, TBP, CXCR2, BHMT, NCOR1, SNAI1, BAX, NPPB, CTSB, F8, IL12B, IGF2BP1, LCN2, NOLC1, CD40LG, SELE, NOD2, CCL5, FAS, ALOX5AP, OLR1, CXCR4, SDC1, FLT4, NCOR2, AKT2, CDH1, TGFB1, CCL3, IGF2BP2, HDAC1, SP1, PDE7A, ADORA3, CRHR1, BCL3, MIF, CXCL5, TNFRSF10B, HAX1, CYP27B1, NLRP2, FGF7, PTGER4, TNFRSF13C, CARM1, EBI3, VCAM1, ERAP2, MYC, CSF1, EPCAM, SLC25A27, NOS2, RIPK2, EGR1, BTG2, BCL2, ABCA1, CD69, BIRC2, CCR3, IL21, GCLC, MMP13, GRIN1, SP3, RRM2B, STAT4, TF, MUC62COL7A1, MMP1
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
COL7A1YES3SP1, NFKB1, RELA0
MMP1YES24MAZ, RFWD2, TWIST1, FOSL1, NFKBIA, ETS2, FOS, PAX5, ETV4, BACH1, CITED2, ETV3, NR4A2, JUN, TP53, RELA, ZNF410, NFKB1, ETS1, STAT3, GATA3, FLI1, CEBPB, PPARG0
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
COL7A1MMP1No-2IL1B, ITGA2

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
COL7A1MMP1yes, they interactMMP1 cleaves collagens of types I, II, and III at one site in the helical domain, it a lso cleaves collagens of types VII and X. [UniProt]
KEGG pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Amoebiasis (hsa05146) NEW5.820.032COL7A1, MMP1
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Extracellular matrix organizationR-HSA-14742444.912COL7A1, MMP1
Degradation of the extracellular matrixR-HSA-14742286.112COL7A1, MMP1
Collagen degradationR-HSA-14424907.032COL7A1, MMP1

NET-GE enrichment

Term New enriched termICP valueGenes
Non-integrin membrane-ECM interactions (R-HSA-3000171) NEW7.10.004COL7A1, MMP1
Extracellular matrix organization (R-HSA-1474244) -4.910.018COL7A1, MMP1
Degradation of the extracellular matrix (R-HSA-1474228) -6.110.021COL7A1, MMP1
Collagen degradation (R-HSA-1442490) -7.030.001COL7A1, MMP1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182COL7A1, MMP1

NET-GE enrichment

Term New enriched termICP valueGenes
collagen binding (GO:0005518) NEW5.580.007COL7A1, MMP1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
metabolic process (GO:0008152) 0.582COL7A1, MMP1
collagen metabolic process (GO:0032963) 5.422COL7A1, MMP1
multicellular organism catabolic process (GO:0044243) 5.472COL7A1, MMP1
regulation of biological process (GO:0050789) 0.452COL7A1, MMP1
single-organism process (GO:0044699) 0.482COL7A1, MMP1
single-organism catabolic process (GO:0044712) 3.212COL7A1, MMP1
single-organism metabolic process (GO:0044710) 1.632COL7A1, MMP1
multicellular organism metabolic process (GO:0044236) 5.22COL7A1, MMP1
cellular component organization (GO:0016043) 1.242COL7A1, MMP1
organic substance metabolic process (GO:0071704) 0.632COL7A1, MMP1
biological regulation (GO:0065007) 0.392COL7A1, MMP1
cellular component organization or biogenesis (GO:0071840) 1.222COL7A1, MMP1
extracellular structure organization (GO:0043062) 4.02COL7A1, MMP1
multicellular organismal process (GO:0032501) 1.452COL7A1, MMP1
cellular process (GO:0009987) 0.262COL7A1, MMP1
regulation of cellular process (GO:0050794) 0.52COL7A1, MMP1
single-organism cellular process (GO:0044763) 0.652COL7A1, MMP1
multicellular organismal macromolecule metabolic process (GO:0044259) 5.362COL7A1, MMP1
catabolic process (GO:0009056) 2.382COL7A1, MMP1
single-multicellular organism process (GO:0044707) 1.782COL7A1, MMP1
collagen catabolic process (GO:0030574) 5.572COL7A1, MMP1
macromolecule metabolic process (GO:0043170) 0.832COL7A1, MMP1
extracellular matrix organization (GO:0030198) 4.012COL7A1, MMP1

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular structure organization (GO:0043062) -4.00.028COL7A1, MMP1
collagen catabolic process (GO:0030574) -5.570.001COL7A1, MMP1
multicellular organismal metabolic process (GO:0044236) -5.20.002COL7A1, MMP1
collagen fibril organization (GO:0030199) NEW6.070.01COL7A1, MMP1
extracellular matrix organization (GO:0030198) -4.010.027COL7A1, MMP1
cellular component disassembly (GO:0022411) NEW3.520.026COL7A1, MMP1
multicellular organismal macromolecule metabolic process (GO:0044259) -5.360.002COL7A1, MMP1
collagen metabolic process (GO:0032963) -5.420.001COL7A1, MMP1
multicellular organismal catabolic process (GO:0044243) -5.470.03COL7A1, MMP1
extracellular matrix disassembly (GO:0022617) NEW5.380.003COL7A1, MMP1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
proteinaceous extracellular matrix (GO:0005578) 4.012COL7A1, MMP1
extracellular region (GO:0005576) 2.182COL7A1, MMP1
extracellular region part (GO:0044421) 1.572COL7A1, MMP1
extracellular matrix (GO:0031012) 3.812COL7A1, MMP1