Disease table of CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA OMIM ID: 219100

Gene-disease associations table

GeneAssociated with CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
EFEMP2ClinVarHGNC link11q13.12614437, 219100
FBLN5ClinVar, OMIM, HUMSAVARHGNC link14q32.124PS603075, 123700, 219100, 614434

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
EFEMP2FBLN5No2GFI1B, ATN1

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
EFEMP2FBLN5Yesbinding9MFAP1, MFAP2, FBLN1, MFAP4, MFAP5, EFEMP1, FBLN2, LOX, MFAP3

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
EFEMP2FBLN5yes, they interactthey interact - 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
Elastic fibre formationR-HSA-15669487.492FBLN5, EFEMP2
Extracellular matrix organizationR-HSA-14742444.912FBLN5, EFEMP2
Molecules associated with elastic fibresR-HSA-21293797.732FBLN5, EFEMP2

NET-GE enrichment

Term New enriched termICP valueGenes
Elastic fibre formation (R-HSA-1566948) -7.490.001FBLN5, EFEMP2
Extracellular matrix organization (R-HSA-1474244) -4.910.004FBLN5, EFEMP2
Molecules associated with elastic fibres (R-HSA-2129379) -7.730.0FBLN5, EFEMP2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.42FBLN5, EFEMP2
ion binding (GO:0043167) 1.362FBLN5, EFEMP2
calcium ion binding (GO:0005509) 3.172FBLN5, EFEMP2
protein binding (GO:0005515) 0.462FBLN5, EFEMP2
metal ion binding (GO:0046872) 1.412FBLN5, EFEMP2
binding (GO:0005488) 0.182FBLN5, EFEMP2

NET-GE enrichment

Term New enriched termICP valueGenes
calcium ion binding (GO:0005509) -3.170.035FBLN5, EFEMP2
GO - biological process annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular matrix organization (GO:0030198) NEW4.010.018FBLN5, EFEMP2
extracellular structure organization (GO:0043062) NEW4.00.019FBLN5, EFEMP2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
extracellular organelle (GO:0043230) 1.892FBLN5, EFEMP2
vesicle (GO:0031982) 1.642FBLN5, EFEMP2
membrane-bounded organelle (GO:0043227) 0.472FBLN5, EFEMP2
membrane-bounded vesicle (GO:0031988) 1.712FBLN5, EFEMP2
organelle (GO:0043226) 0.42FBLN5, EFEMP2
extracellular region (GO:0005576) 2.182FBLN5, EFEMP2
extracellular vesicle (GO:1903561) 1.892FBLN5, EFEMP2
extracellular matrix component (GO:0044420) 4.972FBLN5, EFEMP2
extracellular region part (GO:0044421) 1.572FBLN5, EFEMP2
extracellular exosome (GO:0070062) 1.892FBLN5, EFEMP2

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular matrix part (GO:0044420) -4.970.001FBLN5, EFEMP2