Disease table of PRETERM PREMATURE RUPTURE OF THE MEMBRANES OMIM ID: 610504

Gene-disease associations table

GeneAssociated with PRETERM PREMATURE RUPTURE OF THE MEMBRANES inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SERPINH1ClinVar, OMIMHGNC link11q13.52PS166200, 610504
MMP8ClinVarHGNC link11q22.21610504
MMP1ClinVarHGNC link11q22.23606963, 610504, 226600

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 5382MMP1, MMP8
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
11q22.22MMP1, MMP8
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
11q222MMP1, MMP8
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
11q22MMP1, MMP8
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
11q3SERPINH1, MMP1, MMP8
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
113SERPINH1, MMP1, MMP8
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
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
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
MMP8MMP1No1BCAN

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
SERPINH1MMP1No-5AKT1, STAT3, EP300, TP53, DDR2
MMP8MMP1No-2PRSS1, BCAN

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
MMP1MMP8yes, indirectThey bind collagen. [UniProt]
MMP1SERPINH1yes, indirectThey bind collagen. [UniProt]
MMP8SERPINH1yes, indirectThey bind collagen. [UniProt]
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
Extracellular matrix organizationR-HSA-14742444.913MMP8, MMP1, SERPINH1
Activation of Matrix MetalloproteinasesR-HSA-15923898.032MMP8, MMP1
Degradation of the extracellular matrixR-HSA-14742286.112MMP8, MMP1
Collagen degradationR-HSA-14424907.032MMP8, MMP1

NET-GE enrichment

Term New enriched termICP valueGenes
Activation of Matrix Metalloproteinases (R-HSA-1592389) -8.030.001MMP8, MMP1
Extracellular matrix organization (R-HSA-1474244) -4.910.0MMP8, MMP1, SERPINH1
Degradation of the extracellular matrix (R-HSA-1474228) -6.110.048MMP8, MMP1
Collagen degradation (R-HSA-1442490) -7.030.009MMP8, MMP1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183MMP8, MMP1, SERPINH1
serine-type endopeptidase activity (GO:0004252) 4.42MMP8, MMP1
endopeptidase activity (GO:0004175) 3.632MMP8, MMP1
metalloendopeptidase activity (GO:0004222) 5.022MMP8, MMP1
transition metal ion binding (GO:0046914) 2.482MMP8, MMP1
cation binding (GO:0043169) 1.42MMP8, MMP1
hydrolase activity (GO:0016787) 1.92MMP8, MMP1
serine hydrolase activity (GO:0017171) 4.262MMP8, MMP1
zinc ion binding (GO:0008270) 2.662MMP8, MMP1
ion binding (GO:0043167) 1.362MMP8, MMP1
catalytic activity (GO:0003824) 1.052MMP8, MMP1
peptidase activity, acting on L-amino acid peptides (GO:0070011) 3.262MMP8, MMP1
calcium ion binding (GO:0005509) 3.172MMP8, MMP1
peptidase activity (GO:0008233) 3.232MMP8, MMP1
metal ion binding (GO:0046872) 1.412MMP8, MMP1
metallopeptidase activity (GO:0008237) 4.52MMP8, MMP1
serine-type peptidase activity (GO:0008236) 4.272MMP8, MMP1

NET-GE enrichment

Term New enriched termICP valueGenes
collagen binding (GO:0005518) NEW5.580.022MMP1, SERPINH1
metalloendopeptidase activity (GO:0004222) -5.020.004MMP8, MMP1
metallopeptidase activity (GO:0008237) -4.50.013MMP8, MMP1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
primary metabolic process (GO:0044238) 0.693MMP8, MMP1, SERPINH1
single-organism metabolic process (GO:0044710) 1.633MMP8, MMP1, SERPINH1
multicellular organismal process (GO:0032501) 1.453MMP8, MMP1, SERPINH1
multicellular organismal macromolecule metabolic process (GO:0044259) 5.363MMP8, MMP1, SERPINH1
single-multicellular organism process (GO:0044707) 1.783MMP8, MMP1, SERPINH1
protein metabolic process (GO:0019538) 1.453MMP8, MMP1, SERPINH1
cellular process (GO:0009987) 0.263MMP8, MMP1, SERPINH1
cellular component organization (GO:0016043) 1.243MMP8, MMP1, SERPINH1
macromolecule metabolic process (GO:0043170) 0.833MMP8, MMP1, SERPINH1
extracellular structure organization (GO:0043062) 4.03MMP8, MMP1, SERPINH1
organic substance metabolic process (GO:0071704) 0.633MMP8, MMP1, SERPINH1
extracellular matrix organization (GO:0030198) 4.013MMP8, MMP1, SERPINH1
single-organism cellular process (GO:0044763) 0.653MMP8, MMP1, SERPINH1
single-organism process (GO:0044699) 0.483MMP8, MMP1, SERPINH1
metabolic process (GO:0008152) 0.583MMP8, MMP1, SERPINH1
collagen metabolic process (GO:0032963) 5.423MMP8, MMP1, SERPINH1
multicellular organism metabolic process (GO:0044236) 5.23MMP8, MMP1, SERPINH1
cellular component organization or biogenesis (GO:0071840) 1.223MMP8, MMP1, SERPINH1
single-organism catabolic process (GO:0044712) 3.212MMP8, MMP1
catabolic process (GO:0009056) 2.382MMP8, MMP1
cellular developmental process (GO:0048869) 1.822MMP8, SERPINH1
collagen catabolic process (GO:0030574) 5.572MMP8, MMP1
regulation of cellular process (GO:0050794) 0.52MMP1, SERPINH1
biological regulation (GO:0065007) 0.392MMP1, SERPINH1
proteolysis (GO:0006508) 2.732MMP8, MMP1
cellular component disassembly (GO:0022411) 3.522MMP8, MMP1
multicellular organism catabolic process (GO:0044243) 5.472MMP8, MMP1
extracellular matrix disassembly (GO:0022617) 5.382MMP8, MMP1
regulation of biological process (GO:0050789) 0.452MMP1, SERPINH1

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular structure organization (GO:0043062) -4.00.001MMP8, MMP1, SERPINH1
collagen catabolic process (GO:0030574) -5.570.004MMP8, MMP1
multicellular organismal metabolic process (GO:0044236) -5.20.001MMP8, MMP1, SERPINH1
collagen fibril organization (GO:0030199) NEW6.070.031MMP1, SERPINH1
extracellular matrix organization (GO:0030198) -4.010.001MMP8, MMP1, SERPINH1
cellular component disassembly (GO:0022411) -3.520.045MMP8, MMP1, SERPINH1
multicellular organismal macromolecule metabolic process (GO:0044259) -5.360.0MMP8, MMP1, SERPINH1
collagen metabolic process (GO:0032963) -5.420.0MMP8, MMP1, SERPINH1
multicellular organismal catabolic process (GO:0044243) -5.470.005MMP8, MMP1, SERPINH1
extracellular matrix disassembly (GO:0022617) -5.380.01MMP8, MMP1, SERPINH1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
extracellular region part (GO:0044421) 1.573MMP8, MMP1, SERPINH1
proteinaceous extracellular matrix (GO:0005578) 4.012MMP8, MMP1
extracellular region (GO:0005576) 2.182MMP8, MMP1
extracellular space (GO:0005615) 2.632MMP8, SERPINH1
extracellular matrix (GO:0031012) 3.812MMP8, MMP1

NET-GE enrichment

Term New enriched termICP valueGenes
proteinaceous extracellular matrix (GO:0005578) -4.010.013MMP8, MMP1, SERPINH1
extracellular matrix (GO:0031012) -3.810.021MMP8, MMP1, SERPINH1