Disease table of ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT OMIM ID: 129600

Gene-disease associations table

GeneAssociated with ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
LTBP2ClinVarHGNC link14q24.37154700, 251750, 129600, PS277600, 177650, 613086, 137760
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
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
Elastic fibre formationR-HSA-15669487.492FBN1, LTBP2
Extracellular matrix organizationR-HSA-14742444.912FBN1, LTBP2
Molecules associated with elastic fibresR-HSA-21293797.732FBN1, LTBP2

NET-GE enrichment

Term New enriched termICP valueGenes
Elastic fibre formation (R-HSA-1566948) -7.490.0FBN1, LTBP2
Extracellular matrix organization (R-HSA-1474244) -4.910.042FBN1, LTBP2
Molecules associated with elastic fibres (R-HSA-2129379) -7.730.001FBN1, LTBP2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.42FBN1, LTBP2
ion binding (GO:0043167) 1.362FBN1, LTBP2
calcium ion binding (GO:0005509) 3.172FBN1, LTBP2
protein binding (GO:0005515) 0.462FBN1, LTBP2
metal ion binding (GO:0046872) 1.412FBN1, LTBP2
binding (GO:0005488) 0.182FBN1, LTBP2

NET-GE enrichment

Term New enriched termICP valueGenes
glycosaminoglycan binding (GO:0005539) NEW4.420.046FBN1, LTBP2
growth factor binding (GO:0019838) NEW4.890.012FBN1, LTBP2
calcium ion binding (GO:0005509) -3.170.027FBN1, LTBP2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.262FBN1, LTBP2
cellular component organization (GO:0016043) 1.242FBN1, LTBP2
regulation of cellular process (GO:0050794) 0.52FBN1, LTBP2
extracellular matrix organization (GO:0030198) 4.012FBN1, LTBP2
biological regulation (GO:0065007) 0.392FBN1, LTBP2
single-organism process (GO:0044699) 0.482FBN1, LTBP2
extracellular structure organization (GO:0043062) 4.02FBN1, LTBP2
single-organism cellular process (GO:0044763) 0.652FBN1, LTBP2
localization (GO:0051179) 1.42FBN1, LTBP2
regulation of biological process (GO:0050789) 0.452FBN1, LTBP2
cellular component organization or biogenesis (GO:0071840) 1.222FBN1, LTBP2

NET-GE enrichment

Term New enriched termICP valueGenes
protein secretion (GO:0009306) NEW4.970.029FBN1, LTBP2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
extracellular organelle (GO:0043230) 1.892FBN1, LTBP2
vesicle (GO:0031982) 1.642FBN1, LTBP2
extracellular exosome (GO:0070062) 1.892FBN1, LTBP2
proteinaceous extracellular matrix (GO:0005578) 4.012FBN1, LTBP2
extracellular region part (GO:0044421) 1.572FBN1, LTBP2
extracellular matrix (GO:0031012) 3.812FBN1, LTBP2
extracellular region (GO:0005576) 2.182FBN1, LTBP2
membrane-bounded vesicle (GO:0031988) 1.712FBN1, LTBP2
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
proteinaceous extracellular matrix (GO:0005578) -4.010.003FBN1, LTBP2
extracellular matrix (GO:0031012) -3.810.004FBN1, LTBP2