Disease table of CUTIS LAXA, AUTOSOMAL DOMINANT 1 OMIM ID: 123700

Gene-disease associations table

GeneAssociated with CUTIS LAXA, AUTOSOMAL DOMINANT 1 inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
ELNClinVar, OMIMHGNC link7q11.232123700, 185500
FBLN5ClinVarHGNC link14q32.124PS603075, 123700, 219100, 614434

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Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
ELNYES1JUN0
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
ELNFBLN5yes, they interactThey are in interaction. [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-15669487.492ELN, FBLN5
Extracellular matrix organizationR-HSA-14742444.912ELN, FBLN5
Molecules associated with elastic fibresR-HSA-21293797.732ELN, FBLN5

NET-GE enrichment

Term New enriched termICP valueGenes
Molecules associated with elastic fibres (R-HSA-2129379) -7.730.0ELN, FBLN5
Elastic fibre formation (R-HSA-1566948) -7.490.001ELN, FBLN5
Degradation of the extracellular matrix (R-HSA-1474228) NEW6.110.01ELN, FBLN5
Extracellular matrix organization (R-HSA-1474244) -4.910.006ELN, FBLN5
Collagen formation (R-HSA-1474290) NEW6.560.004ELN, FBLN5
Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090) NEW7.20.002ELN, FBLN5
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182ELN, FBLN5
protein binding (GO:0005515) 0.462ELN, FBLN5

NET-GE enrichment

Term New enriched termICP valueGenes
integrin binding (GO:0005178) NEW5.070.009ELN, FBLN5
cell adhesion molecule binding (GO:0050839) NEW4.50.027ELN, FBLN5
glycosaminoglycan binding (GO:0005539) NEW4.420.046ELN, FBLN5
copper ion binding (GO:0005507) NEW5.710.003ELN, FBLN5
heparin binding (GO:0008201) NEW4.680.027ELN, FBLN5
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular component assembly (GO:0022607) 2.142ELN, FBLN5
cellular process (GO:0009987) 0.262ELN, FBLN5
cellular component organization (GO:0016043) 1.242ELN, FBLN5
regulation of cellular process (GO:0050794) 0.52ELN, FBLN5
extracellular matrix organization (GO:0030198) 4.012ELN, FBLN5
biological regulation (GO:0065007) 0.392ELN, FBLN5
single-organism process (GO:0044699) 0.482ELN, FBLN5
extracellular structure organization (GO:0043062) 4.02ELN, FBLN5
single-organism cellular process (GO:0044763) 0.652ELN, FBLN5
regulation of cellular component organization (GO:0051128) 2.012ELN, FBLN5
regulation of biological process (GO:0050789) 0.452ELN, FBLN5
cellular component organization or biogenesis (GO:0071840) 1.222ELN, FBLN5

NET-GE enrichment

Term New enriched termICP valueGenes
cell-matrix adhesion (GO:0007160) NEW5.130.05ELN, FBLN5
extracellular matrix assembly (GO:0085029) NEW6.960.001ELN, FBLN5
extracellular matrix organization (GO:0030198) -4.010.029ELN, FBLN5
elastic fiber assembly (GO:0048251) NEW7.780.0ELN, FBLN5
extracellular structure organization (GO:0043062) -4.00.03ELN, FBLN5
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
extracellular space (GO:0005615) 2.632ELN, FBLN5
extracellular matrix component (GO:0044420) 4.972ELN, FBLN5
extracellular region part (GO:0044421) 1.572ELN, FBLN5
organelle (GO:0043226) 0.42ELN, FBLN5
extracellular region (GO:0005576) 2.182ELN, FBLN5
elastic fiber (GO:0071953) 8.422ELN, FBLN5
extracellular matrix (GO:0031012) 3.812ELN, FBLN5
membrane-bounded organelle (GO:0043227) 0.472ELN, FBLN5
proteinaceous extracellular matrix (GO:0005578) 4.012ELN, FBLN5

NET-GE enrichment

Term New enriched termICP valueGenes
elastic fiber (GO:0071953) -8.420.0ELN, FBLN5
extracellular matrix part (GO:0044420) -4.970.001ELN, FBLN5
proteinaceous extracellular matrix (GO:0005578) -4.010.003ELN, FBLN5
extracellular matrix (GO:0031012) -3.810.006ELN, FBLN5