Disease table of SPONDYLOCOSTAL DYSOSTOSIS OMIM ID: PS277300

Gene-disease associations table

GeneAssociated with SPONDYLOCOSTAL DYSOSTOSIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
RIPPLY2ClinVar, OMIMHGNC link6q14.21PS277300
DLL3ClinVar, OMIM, HUMSAVARHGNC link19q13.21PS277300
TBX6ClinVar, OMIMHGNC link16p11.21PS277300
MESP2ClinVar, OMIMHGNC link15q26.11PS277300
LFNGClinVar, OMIM, HUMSAVARHGNC link7p22.31PS277300
HES7ClinVar, OMIM, HUMSAVARHGNC link17p13.11PS277300

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
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
DLL3MESP2Yesactivation1DLL1
DLL3LFNGYesactivation3JAG1, NOTCH1, NOTCH3
DLL3HES7No-1DLL1
TBX6HES7Yesactivation, expression1FGF8
MESP2LFNGNo-1DLL3
MESP2HES7No-1DLL1

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
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Notch signaling pathwayhsa043307.122DLL3, LFNG

NET-GE enrichment

Term New enriched termICP valueGenes
Notch signaling pathway (hsa04330) -7.120.0DLL3, MESP2, LFNG
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.186RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
protein binding (GO:0005515) 0.465RIPPLY2, DLL3, MESP2, TBX6, HES7
organic cyclic compound binding (GO:0097159) 1.053HES7, TBX6, MESP2
heterocyclic compound binding (GO:1901363) 1.063HES7, TBX6, MESP2
nucleic acid binding (GO:0003676) 1.443HES7, TBX6, MESP2
DNA binding (GO:0003677) 1.923HES7, TBX6, MESP2
cation binding (GO:0043169) 1.42DLL3, LFNG
transcription factor binding (GO:0008134) 3.462HES7, TBX6
metal ion binding (GO:0046872) 1.412DLL3, LFNG
protein dimerization activity (GO:0046983) 2.722HES7, MESP2
ion binding (GO:0043167) 1.362DLL3, LFNG

NET-GE enrichment

Term New enriched termICP valueGenes
Notch binding (GO:0005112) NEW6.850.001DLL3, MESP2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.366RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
multicellular organismal process (GO:0032501) 1.456RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
single-multicellular organism process (GO:0044707) 1.786RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
anatomical structure development (GO:0048856) 1.586RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
regulation of cellular process (GO:0050794) 0.56RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
single-organism developmental process (GO:0044767) 1.496RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
biological regulation (GO:0065007) 0.396RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
multicellular organism development (GO:0007275) 2.546RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
regulation of biological process (GO:0050789) 0.456RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
single-organism process (GO:0044699) 0.486RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
pattern specification process (GO:0007389) 3.795RIPPLY2, DLL3, TBX6, LFNG, HES7
cellular process (GO:0009987) 0.265HES7, DLL3, MESP2, LFNG, TBX6
anatomical structure formation involved in morphogenesis (GO:0048646) 3.015RIPPLY2, DLL3, TBX6, LFNG, HES7
signal transduction (GO:0007165) 1.285RIPPLY2, DLL3, MESP2, TBX6, HES7
negative regulation of biological process (GO:0048519) 1.335RIPPLY2, DLL3, TBX6, LFNG, HES7
negative regulation of cellular process (GO:0048523) 1.415RIPPLY2, DLL3, TBX6, LFNG, HES7
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.434RIPPLY2, TBX6, MESP2, HES7
regulation of primary metabolic process (GO:0080090) 1.084RIPPLY2, TBX6, MESP2, HES7
regulation of metabolic process (GO:0019222) 1.024RIPPLY2, TBX6, MESP2, HES7
regulation of cellular biosynthetic process (GO:0031326) 1.384RIPPLY2, TBX6, MESP2, HES7
regulation of cellular metabolic process (GO:0031323) 1.074RIPPLY2, TBX6, MESP2, HES7
cell surface receptor signaling pathway (GO:0007166) 2.094RIPPLY2, DLL3, HES7, MESP2
segmentation (GO:0035282) 5.84RIPPLY2, DLL3, HES7, LFNG
anatomical structure morphogenesis (GO:0009653) 2.534RIPPLY2, TBX6, LFNG, HES7
Notch signaling pathway (GO:0007219) 4.994RIPPLY2, DLL3, HES7, MESP2
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.464RIPPLY2, TBX6, MESP2, HES7
regulation of developmental process (GO:0050793) 2.14HES7, DLL3, TBX6, LFNG
regulation of gene expression (GO:0010468) 1.374RIPPLY2, TBX6, MESP2, HES7
regulation of macromolecule metabolic process (GO:0060255) 1.084RIPPLY2, TBX6, MESP2, HES7
regulation of biosynthetic process (GO:0009889) 1.374RIPPLY2, TBX6, MESP2, HES7
regulation of nucleic acid-templated transcription (GO:1903506) 1.554RIPPLY2, TBX6, MESP2, HES7
regionalization (GO:0003002) 4.244RIPPLY2, DLL3, HES7, LFNG
regulation of multicellular organismal process (GO:0051239) 1.874HES7, DLL3, TBX6, LFNG
regulation of RNA biosynthetic process (GO:2001141) 1.554RIPPLY2, TBX6, MESP2, HES7
somitogenesis (GO:0001756) 5.94RIPPLY2, DLL3, HES7, LFNG
anterior/posterior pattern specification (GO:0009952) 4.714RIPPLY2, DLL3, HES7, LFNG
regulation of RNA metabolic process (GO:0051252) 1.524RIPPLY2, TBX6, MESP2, HES7
regulation of transcription, DNA-templated (GO:0006355) 1.564RIPPLY2, TBX6, MESP2, HES7
regulation of macromolecule biosynthetic process (GO:0010556) 1.434RIPPLY2, TBX6, MESP2, HES7
regulation of multicellular organismal development (GO:2000026) 2.314HES7, DLL3, TBX6, LFNG
regulation of nitrogen compound metabolic process (GO:0051171) 1.364RIPPLY2, TBX6, MESP2, HES7
negative regulation of metabolic process (GO:0009892) 1.933RIPPLY2, HES7, TBX6
RNA biosynthetic process (GO:0032774) 1.843HES7, TBX6, MESP2
negative regulation of biosynthetic process (GO:0009890) 2.473RIPPLY2, HES7, TBX6
mesoderm development (GO:0007498) 5.723DLL3, HES7, TBX6
negative regulation of cellular metabolic process (GO:0031324) 2.013RIPPLY2, HES7, TBX6
nucleic acid metabolic process (GO:0090304) 1.463HES7, TBX6, MESP2
cellular biosynthetic process (GO:0044249) 1.373HES7, TBX6, MESP2
negative regulation of gene expression (GO:0010629) 2.483RIPPLY2, HES7, TBX6
nitrogen compound metabolic process (GO:0006807) 1.133HES7, TBX6, MESP2
cellular macromolecule biosynthetic process (GO:0034645) 1.663HES7, TBX6, MESP2
organic cyclic compound biosynthetic process (GO:1901362) 1.663HES7, TBX6, MESP2
organic cyclic compound metabolic process (GO:1901360) 1.263HES7, TBX6, MESP2
organic substance biosynthetic process (GO:1901576) 1.343HES7, TBX6, MESP2
negative regulation of macromolecule metabolic process (GO:0010605) 2.013RIPPLY2, HES7, TBX6
cellular macromolecule metabolic process (GO:0044260) 0.933HES7, TBX6, MESP2
negative regulation of transcription from RNA polymerase II promoter (GO:0000122) 3.123RIPPLY2, HES7, TBX6
cellular developmental process (GO:0048869) 1.823DLL3, TBX6, LFNG
negative regulation of multicellular organismal process (GO:0051241) 2.843DLL3, TBX6, LFNG
negative regulation of cellular macromolecule biosynthetic process (GO:2000113) 2.63RIPPLY2, HES7, TBX6
negative regulation of cellular biosynthetic process (GO:0031327) 2.493RIPPLY2, HES7, TBX6
nucleic acid-templated transcription (GO:0097659) 1.913HES7, TBX6, MESP2
heterocycle biosynthetic process (GO:0018130) 1.73HES7, TBX6, MESP2
negative regulation of developmental process (GO:0051093) 3.173DLL3, TBX6, LFNG
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.553RIPPLY2, HES7, TBX6
nucleobase-containing compound metabolic process (GO:0006139) 1.353HES7, TBX6, MESP2
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.473RIPPLY2, HES7, TBX6
cellular aromatic compound metabolic process (GO:0006725) 1.33HES7, TBX6, MESP2
tissue development (GO:0009888) 3.273DLL3, HES7, TBX6
negative regulation of nucleic acid-templated transcription (GO:1903507) 2.713RIPPLY2, HES7, TBX6
negative regulation of RNA biosynthetic process (GO:1902679) 2.73RIPPLY2, HES7, TBX6
organic substance metabolic process (GO:0071704) 0.633HES7, TBX6, MESP2
biosynthetic process (GO:0009058) 1.323HES7, TBX6, MESP2
macromolecule biosynthetic process (GO:0009059) 1.613HES7, TBX6, MESP2
negative regulation of transcription, DNA-templated (GO:0045892) 2.753RIPPLY2, HES7, TBX6
metabolic process (GO:0008152) 0.583HES7, TBX6, MESP2
nucleobase-containing compound biosynthetic process (GO:0034654) 1.723HES7, TBX6, MESP2
heterocycle metabolic process (GO:0046483) 1.313HES7, TBX6, MESP2
RNA metabolic process (GO:0016070) 1.593HES7, TBX6, MESP2
primary metabolic process (GO:0044238) 0.693HES7, TBX6, MESP2
cellular nitrogen compound biosynthetic process (GO:0044271) 1.593HES7, TBX6, MESP2
negative regulation of RNA metabolic process (GO:0051253) 2.663RIPPLY2, HES7, TBX6
single-organism cellular process (GO:0044763) 0.653DLL3, TBX6, LFNG
cellular nitrogen compound metabolic process (GO:0034641) 1.223HES7, TBX6, MESP2
cellular metabolic process (GO:0044237) 0.693HES7, TBX6, MESP2
macromolecule metabolic process (GO:0043170) 0.833HES7, TBX6, MESP2
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.243RIPPLY2, HES7, TBX6
transcription, DNA-templated (GO:0006351) 1.913HES7, TBX6, MESP2
aromatic compound biosynthetic process (GO:0019438) 1.73HES7, TBX6, MESP2
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.533RIPPLY2, HES7, TBX6
regulation of anatomical structure morphogenesis (GO:0022603) 2.792HES7, LFNG
cell differentiation (GO:0030154) 2.142DLL3, LFNG
skeletal system development (GO:0001501) 4.492DLL3, HES7
post-anal tail morphogenesis (GO:0036342) 6.842RIPPLY2, HES7
embryonic axis specification (GO:0000578) 6.362RIPPLY2, TBX6
axis specification (GO:0009798) 5.422RIPPLY2, TBX6
regulation of neurogenesis (GO:0050767) 3.212DLL3, TBX6
anterior/posterior axis specification (GO:0009948) 6.172RIPPLY2, TBX6
negative regulation of neurogenesis (GO:0050768) 4.222DLL3, TBX6
rhythmic process (GO:0048511) 4.022HES7, LFNG
negative regulation of cell development (GO:0010721) 4.022DLL3, TBX6
positive regulation of biological process (GO:0048518) 1.22TBX6, LFNG
somite rostral/caudal axis specification (GO:0032525) 7.432RIPPLY2, TBX6
organ morphogenesis (GO:0009887) 3.552RIPPLY2, LFNG
regulation of somitogenesis (GO:0014807) 7.432HES7, LFNG
embryonic pattern specification (GO:0009880) 5.82RIPPLY2, TBX6
negative regulation of cell differentiation (GO:0045596) 3.332DLL3, TBX6
regulation of cell differentiation (GO:0045595) 2.422DLL3, TBX6
regulation of embryonic development (GO:0045995) 4.982HES7, LFNG
compartment pattern specification (GO:0007386) 8.122DLL3, LFNG
regulation of cell development (GO:0060284) 3.012DLL3, TBX6
negative regulation of nervous system development (GO:0051961) 4.152DLL3, TBX6
regulation of nervous system development (GO:0051960) 3.12DLL3, TBX6
system development (GO:0048731) 2.922DLL3, HES7
positive regulation of cellular process (GO:0048522) 1.32TBX6, LFNG

NET-GE enrichment

Term New enriched termICP valueGenes
mesoderm development (GO:0007498) -5.720.0HES7, DLL3, TBX6, MESP2
cell migration involved in gastrulation (GO:0042074) NEW7.240.01TBX6, MESP2
skeletal system development (GO:0001501) -4.490.0MESP2, DLL3, TBX6, LFNG, HES7
signal transduction involved in regulation of gene expression (GO:0023019) NEW6.840.004TBX6, MESP2
compartment pattern specification (GO:0007386) -8.120.0DLL3, MESP2, LFNG
embryonic axis specification (GO:0000578) -6.360.0RIPPLY2, TBX6, MESP2
axis specification (GO:0009798) -5.420.0RIPPLY2, LFNG, MESP2, TBX6
segmentation (GO:0035282) -5.80.0RIPPLY2, DLL3, MESP2, LFNG, HES7
pattern specification process (GO:0007389) -3.790.0RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
Notch signaling pathway (GO:0007219) -4.990.0RIPPLY2, DLL3, MESP2, LFNG, HES7
anterior/posterior axis specification (GO:0009948) -6.170.0RIPPLY2, TBX6, MESP2
post-anal tail morphogenesis (GO:0036342) -6.840.003RIPPLY2, HES7
positive regulation of Notch signaling pathway (GO:0045747) NEW6.230.016LFNG, MESP2
anatomical structure formation involved in morphogenesis (GO:0048646) -3.010.0RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
developmental process (GO:0032502) -1.360.038RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
somite rostral/caudal axis specification (GO:0032525) -7.430.0RIPPLY2, TBX6, MESP2
multicellular organismal process (GO:0032501) -1.450.004RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
regulation of somitogenesis (GO:0014807) -7.430.002HES7, LFNG
embryonic pattern specification (GO:0009880) -5.80.0RIPPLY2, TBX6, MESP2
single-organism developmental process (GO:0044767) -1.490.022RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
regulation of protein binding (GO:0043393) NEW4.60.046LFNG, MESP2, TBX6
regionalization (GO:0003002) -4.240.0RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
regulation of embryonic development (GO:0045995) -4.980.0HES7, LFNG, MESP2, TBX6
mesenchyme development (GO:0060485) NEW5.70.002DLL3, TBX6, MESP2
somitogenesis (GO:0001756) -5.90.0RIPPLY2, DLL3, MESP2, LFNG, HES7
anterior/posterior pattern specification (GO:0009952) -4.710.0RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
single-multicellular organism process (GO:0044707) -1.780.004RIPPLY2, HES7, MESP2, TBX6, DLL3, LFNG
system development (GO:0048731) -2.920.049HES7, DLL3, LFNG, MESP2, TBX6
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.65RIPPLY2, MESP2, TBX6, LFNG, HES7
cell part (GO:0044464) 0.115RIPPLY2, HES7, MESP2, LFNG, TBX6
intracellular organelle (GO:0043229) 0.515RIPPLY2, HES7, MESP2, LFNG, TBX6
intracellular part (GO:0044424) 0.285RIPPLY2, HES7, LFNG, MESP2, TBX6
membrane-bounded organelle (GO:0043227) 0.475RIPPLY2, HES7, MESP2, LFNG, TBX6
organelle (GO:0043226) 0.45RIPPLY2, HES7, MESP2, LFNG, TBX6
nucleus (GO:0005634) 1.074RIPPLY2, TBX6, MESP2, HES7
extracellular organelle (GO:0043230) 1.892LFNG, MESP2
vesicle (GO:0031982) 1.642LFNG, MESP2
integral component of membrane (GO:0016021) 1.142DLL3, LFNG
membrane (GO:0016020) 0.682DLL3, LFNG
membrane part (GO:0044425) 0.952DLL3, LFNG
extracellular vesicle (GO:1903561) 1.892LFNG, MESP2
extracellular region part (GO:0044421) 1.572LFNG, MESP2
intrinsic component of membrane (GO:0031224) 1.132DLL3, LFNG