Disease table of GELEOPHYSIC DYSPLASIA OMIM ID: PS231050

Gene-disease associations table

GeneAssociated with GELEOPHYSIC DYSPLASIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
ADAMTSL2ClinVar, OMIM, HUMSAVARHGNC link9q34.21PS231050
FBN1ClinVar, OMIM, HUMSAVARHGNC link15q21.19154700, 102370, 129600, PS277600, PS142623, PS231050, 616914, 604308, 184900

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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
FBN1YES2SP1, PARP10
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
ADAMTSL2FBN1No-1LTBP1

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
ADAMTSL2FBN1maybe, indirectADAMTSL2 is part of a protein family in which other proteins interact with FBN1. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
O-glycosylation of TSR domain-containing proteins (R-HSA-5173214) NEW7.70.001FBN1, ADAMTSL2
O-linked glycosylation (R-HSA-5173105) NEW6.30.004FBN1, ADAMTSL2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.42FBN1, ADAMTSL2
metal ion binding (GO:0046872) 1.412FBN1, ADAMTSL2
binding (GO:0005488) 0.182FBN1, ADAMTSL2
protein binding (GO:0005515) 0.462FBN1, ADAMTSL2
ion binding (GO:0043167) 1.362FBN1, ADAMTSL2

NET-GE enrichment

Term New enriched termICP valueGenes
metalloendopeptidase activity (GO:0004222) NEW5.020.009FBN1, ADAMTSL2
metallopeptidase activity (GO:0008237) NEW4.50.028FBN1, ADAMTSL2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
negative regulation of response to stimulus (GO:0048585) 2.522FBN1, ADAMTSL2
regulation of response to stimulus (GO:0048583) 1.542FBN1, ADAMTSL2
negative regulation of signaling (GO:0023057) 2.652FBN1, ADAMTSL2
negative regulation of cell communication (GO:0010648) 2.662FBN1, ADAMTSL2
regulation of signaling (GO:0023051) 1.722FBN1, ADAMTSL2
regulation of cell communication (GO:0010646) 1.732FBN1, ADAMTSL2
regulation of biological process (GO:0050789) 0.452FBN1, ADAMTSL2
single-organism process (GO:0044699) 0.482FBN1, ADAMTSL2
regulation of cellular response to growth factor stimulus (GO:0090287) 4.292FBN1, ADAMTSL2
negative regulation of cellular response to transforming growth factor beta stimulus (GO:1903845) 5.542FBN1, ADAMTSL2
regulation of cellular response to transforming growth factor beta stimulus (GO:1903844) 5.132FBN1, ADAMTSL2
negative regulation of signal transduction (GO:0009968) 2.752FBN1, ADAMTSL2
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101) 5.12FBN1, ADAMTSL2
regulation of signal transduction (GO:0009966) 1.842FBN1, ADAMTSL2
negative regulation of cellular response to growth factor stimulus (GO:0090288) 4.922FBN1, ADAMTSL2
cellular component organization (GO:0016043) 1.242FBN1, ADAMTSL2
biological regulation (GO:0065007) 0.392FBN1, ADAMTSL2
cellular component organization or biogenesis (GO:0071840) 1.222FBN1, ADAMTSL2
extracellular structure organization (GO:0043062) 4.02FBN1, ADAMTSL2
negative regulation of biological process (GO:0048519) 1.332FBN1, ADAMTSL2
developmental process (GO:0032502) 1.362FBN1, ADAMTSL2
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090092) 4.392FBN1, ADAMTSL2
cellular process (GO:0009987) 0.262FBN1, ADAMTSL2
regulation of transforming growth factor beta receptor signaling pathway (GO:0017015) 5.132FBN1, ADAMTSL2
regulation of cellular process (GO:0050794) 0.52FBN1, ADAMTSL2
single-organism cellular process (GO:0044763) 0.652FBN1, ADAMTSL2
negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512) 5.542FBN1, ADAMTSL2
anatomical structure development (GO:0048856) 1.582FBN1, ADAMTSL2
extracellular matrix organization (GO:0030198) 4.012FBN1, ADAMTSL2
negative regulation of cellular process (GO:0048523) 1.412FBN1, ADAMTSL2

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090092) -4.390.005FBN1, ADAMTSL2
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101) -5.10.002FBN1, ADAMTSL2
regulation of transforming growth factor beta receptor signaling pathway (GO:0017015) -5.130.002FBN1, ADAMTSL2
regulation of cellular response to growth factor stimulus (GO:0090287) -4.290.005FBN1, ADAMTSL2
negative regulation of cellular response to growth factor stimulus (GO:0090288) -4.920.002FBN1, ADAMTSL2
negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512) -5.540.022FBN1, ADAMTSL2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
proteinaceous extracellular matrix (GO:0005578) 4.012FBN1, ADAMTSL2
extracellular region (GO:0005576) 2.182FBN1, ADAMTSL2
extracellular region part (GO:0044421) 1.572FBN1, ADAMTSL2
extracellular matrix (GO:0031012) 3.812FBN1, ADAMTSL2

NET-GE enrichment

Term New enriched termICP valueGenes
proteinaceous extracellular matrix (GO:0005578) -4.010.003FBN1, ADAMTSL2
extracellular matrix (GO:0031012) -3.810.004FBN1, ADAMTSL2