Disease table of WEILL-MARCHESANI SYNDROME OMIM ID: PS277600

Gene-disease associations table

GeneAssociated with WEILL-MARCHESANI SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
ADAMTS10ClinVar, OMIM, HUMSAVARHGNC link19p13.21PS277600
LTBP2ClinVar, OMIM, HUMSAVARHGNC link14q24.37154700, 251750, 129600, PS277600, 177650, 613086, 137760
ADAMTS17OMIMHGNC link15q26.31PS277600
FBN1OMIMHGNC link15q21.19154700, 102370, 129600, PS277600, PS142623, PS231050, 616914, 604308, 184900

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
15q22FBN1, ADAMTS17
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
15q2FBN1, ADAMTS17
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
152FBN1, ADAMTS17
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
ADAMTS10FBN1Yesbinding0

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
FBN1LTBP2yes, they interactLTBP2 interacts (via C-terminal domain) with FBN1 (via N-terminal domain) in a Ca(+2)-dependent manner. [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
Molecules associated with elastic fibresR-HSA-21293797.732FBN1, LTBP2
Elastic fibre formationR-HSA-15669487.492FBN1, LTBP2
Metabolism of proteinsR-HSA-3924993.412ADAMTS17, ADAMTS10
Extracellular matrix organizationR-HSA-14742444.912FBN1, LTBP2
O-glycosylation of TSR domain-containing proteinsR-HSA-51732147.72ADAMTS17, ADAMTS10
O-linked glycosylationR-HSA-51731056.32ADAMTS17, ADAMTS10
Post-translational protein modificationR-HSA-5975924.542ADAMTS17, ADAMTS10

NET-GE enrichment

Term New enriched termICP valueGenes
Elastic fibre formation (R-HSA-1566948) -7.490.006FBN1, LTBP2
Post-translational protein modification (R-HSA-597592) -4.540.017ADAMTS17, FBN1, ADAMTS10
Molecules associated with elastic fibres (R-HSA-2129379) -7.730.004FBN1, LTBP2
O-glycosylation of TSR domain-containing proteins (R-HSA-5173214) -7.70.0ADAMTS17, FBN1, ADAMTS10
O-linked glycosylation (R-HSA-5173105) -6.30.0ADAMTS17, FBN1, ADAMTS10
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.44ADAMTS17, LTBP2, FBN1, ADAMTS10
metal ion binding (GO:0046872) 1.414ADAMTS17, LTBP2, FBN1, ADAMTS10
binding (GO:0005488) 0.184ADAMTS17, LTBP2, FBN1, ADAMTS10
ion binding (GO:0043167) 1.364ADAMTS17, LTBP2, FBN1, ADAMTS10
protein binding (GO:0005515) 0.463FBN1, LTBP2, ADAMTS10
hydrolase activity (GO:0016787) 1.92ADAMTS17, ADAMTS10
endopeptidase activity (GO:0004175) 3.632ADAMTS17, ADAMTS10
metalloendopeptidase activity (GO:0004222) 5.022ADAMTS17, ADAMTS10
transition metal ion binding (GO:0046914) 2.482ADAMTS17, ADAMTS10
catalytic activity (GO:0003824) 1.052ADAMTS17, ADAMTS10
peptidase activity, acting on L-amino acid peptides (GO:0070011) 3.262ADAMTS17, ADAMTS10
calcium ion binding (GO:0005509) 3.172FBN1, LTBP2
peptidase activity (GO:0008233) 3.232ADAMTS17, ADAMTS10
metallopeptidase activity (GO:0008237) 4.52ADAMTS17, ADAMTS10
zinc ion binding (GO:0008270) 2.662ADAMTS17, ADAMTS10

NET-GE enrichment

Term New enriched termICP valueGenes
sulfur compound binding (GO:1901681) NEW4.320.008FBN1, LTBP2, ADAMTS10
endopeptidase activity (GO:0004175) -3.630.044ADAMTS17, FBN1, ADAMTS10
metalloendopeptidase activity (GO:0004222) -5.020.006ADAMTS17, FBN1, ADAMTS10
metallopeptidase activity (GO:0008237) -4.50.003ADAMTS17, FBN1, ADAMTS10
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
primary metabolic process (GO:0044238) 0.692ADAMTS17, ADAMTS10
protein metabolic process (GO:0019538) 1.452ADAMTS17, ADAMTS10
cellular process (GO:0009987) 0.262FBN1, LTBP2
single-organism cellular process (GO:0044763) 0.652FBN1, LTBP2
cellular component organization (GO:0016043) 1.242FBN1, LTBP2
regulation of cellular process (GO:0050794) 0.52FBN1, LTBP2
organic substance metabolic process (GO:0071704) 0.632ADAMTS17, ADAMTS10
extracellular matrix organization (GO:0030198) 4.012FBN1, LTBP2
biological regulation (GO:0065007) 0.392FBN1, LTBP2
single-organism process (GO:0044699) 0.482FBN1, LTBP2
metabolic process (GO:0008152) 0.582ADAMTS17, ADAMTS10
extracellular structure organization (GO:0043062) 4.02FBN1, LTBP2
proteolysis (GO:0006508) 2.732ADAMTS17, ADAMTS10
localization (GO:0051179) 1.42FBN1, LTBP2
macromolecule metabolic process (GO:0043170) 0.832ADAMTS17, ADAMTS10
regulation of biological process (GO:0050789) 0.452FBN1, LTBP2
cellular component organization or biogenesis (GO:0071840) 1.222FBN1, LTBP2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
proteinaceous extracellular matrix (GO:0005578) 4.014ADAMTS17, LTBP2, FBN1, ADAMTS10
extracellular region (GO:0005576) 2.184ADAMTS17, LTBP2, FBN1, ADAMTS10
extracellular region part (GO:0044421) 1.574ADAMTS17, LTBP2, FBN1, ADAMTS10
extracellular matrix (GO:0031012) 3.814ADAMTS17, LTBP2, FBN1, ADAMTS10
extracellular organelle (GO:0043230) 1.892FBN1, LTBP2
extracellular exosome (GO:0070062) 1.892FBN1, LTBP2
extracellular matrix component (GO:0044420) 4.972FBN1, ADAMTS10
vesicle (GO:0031982) 1.642FBN1, LTBP2
membrane-bounded vesicle (GO:0031988) 1.712FBN1, LTBP2
microfibril (GO:0001527) 7.52FBN1, ADAMTS10
fibril (GO:0043205) 7.162FBN1, ADAMTS10
extracellular vesicle (GO:1903561) 1.892FBN1, LTBP2
membrane-bounded organelle (GO:0043227) 0.472FBN1, LTBP2
organelle (GO:0043226) 0.42FBN1, LTBP2
extracellular space (GO:0005615) 2.632FBN1, LTBP2

NET-GE enrichment

Term New enriched termICP valueGenes
fibril (GO:0043205) -7.160.0FBN1, ADAMTS10
extracellular region part (GO:0044421) -1.570.023ADAMTS17, LTBP2, FBN1, ADAMTS10
extracellular matrix (GO:0031012) -3.810.0ADAMTS17, LTBP2, FBN1, ADAMTS10
microfibril (GO:0001527) -7.50.0FBN1, ADAMTS10
extracellular matrix part (GO:0044420) -4.970.005FBN1, ADAMTS10
proteinaceous extracellular matrix (GO:0005578) -4.010.0ADAMTS17, LTBP2, FBN1