Disease table of MULTIPLE SYNOSTOSES SYNDROME OMIM ID: PS186500

Gene-disease associations table

GeneAssociated with MULTIPLE SYNOSTOSES SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
NOGClinVar, OMIM, HUMSAVARHGNC link17q225611377, PS186500, 184460, PS185800, 186570
GDF5ClinVar, OMIM, HUMSAVARHGNC link20q11.229PS186500, 112600, 201250, 228900, 615072, 612400, PS185800, 113100, 200700
FGF9ClinVar, OMIM, HUMSAVARHGNC link13q12.111PS186500

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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
FGF9YES1FUBP30
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
NOGGDF5Yesactivation, binding6BMPR1A, BMP4, BMPR2, BMP7, BMPR1B, BMP2
NOGFGF9No-6PITX2, SOX9, FGF4, SHH, FGF18, FGF2

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
GDF5NOGyes, they interactGDF5 negatively regulates chondrogenic differentiation through its interaction with NOG (PubMed:21976273). [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
TGF-beta signaling pathwayhsa043506.412GDF5, NOG

NET-GE enrichment

Term New enriched termICP valueGenes
TGF-beta signaling pathway (hsa04350) -6.410.03GDF5, NOG
Hippo signaling pathway (hsa04390) NEW5.370.002GDF5, NOG, FGF9
REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Signal TransductionR-HSA-1625821.782NOG, FGF9
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183GDF5, NOG, FGF9
protein binding (GO:0005515) 0.463GDF5, NOG, FGF9
receptor binding (GO:0005102) 2.432GDF5, FGF9
cytokine binding (GO:0019955) 5.212GDF5, NOG
growth factor activity (GO:0008083) 4.662GDF5, FGF9
identical protein binding (GO:0042802) 2.632GDF5, NOG

NET-GE enrichment

Term New enriched termICP valueGenes
cytokine activity (GO:0005125) NEW4.340.002GDF5, NOG, FGF9
growth factor activity (GO:0008083) -4.660.001GDF5, NOG, FGF9
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
regulation of developmental growth (GO:0048638) 4.043GDF5, NOG, FGF9
regulation of RNA metabolic process (GO:0051252) 1.523GDF5, NOG, FGF9
regulation of phosphate metabolic process (GO:0019220) 2.353GDF5, NOG, FGF9
positive regulation of metabolic process (GO:0009893) 1.743GDF5, NOG, FGF9
regulation of metabolic process (GO:0019222) 1.023GDF5, NOG, FGF9
regulation of protein metabolic process (GO:0051246) 1.933GDF5, NOG, FGF9
positive regulation of cellular metabolic process (GO:0031325) 1.813GDF5, NOG, FGF9
cell differentiation (GO:0030154) 2.143GDF5, NOG, FGF9
regulation of response to stimulus (GO:0048583) 1.543GDF5, NOG, FGF9
regulation of cellular biosynthetic process (GO:0031326) 1.383GDF5, NOG, FGF9
regulation of cell proliferation (GO:0042127) 2.413GDF5, NOG, FGF9
signal transduction (GO:0007165) 1.283GDF5, NOG, FGF9
cell surface receptor signaling pathway (GO:0007166) 2.093GDF5, NOG, FGF9
enzyme linked receptor protein signaling pathway (GO:0007167) 3.243GDF5, NOG, FGF9
anatomical structure morphogenesis (GO:0009653) 2.533GDF5, NOG, FGF9
regulation of biological process (GO:0050789) 0.453GDF5, NOG, FGF9
single-organism process (GO:0044699) 0.483GDF5, NOG, FGF9
regulation of primary metabolic process (GO:0080090) 1.083GDF5, NOG, FGF9
regulation of cellular response to growth factor stimulus (GO:0090287) 4.293GDF5, NOG, FGF9
regulation of cell communication (GO:0010646) 1.733GDF5, NOG, FGF9
positive regulation of macromolecule metabolic process (GO:0010604) 1.813GDF5, NOG, FGF9
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.243GDF5, NOG, FGF9
regulation of signal transduction (GO:0009966) 1.843GDF5, NOG, FGF9
cellular developmental process (GO:0048869) 1.823GDF5, NOG, FGF9
positive regulation of multicellular organismal process (GO:0051240) 2.493GDF5, NOG, FGF9
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463GDF5, NOG, FGF9
regulation of signaling (GO:0023051) 1.723GDF5, NOG, FGF9
regulation of developmental process (GO:0050793) 2.13GDF5, NOG, FGF9
animal organ development (GO:0048513) 2.533GDF5, NOG, FGF9
biological regulation (GO:0065007) 0.393GDF5, NOG, FGF9
regulation of protein modification process (GO:0031399) 2.323GDF5, NOG, FGF9
positive regulation of biological process (GO:0048518) 1.23GDF5, NOG, FGF9
negative regulation of biological process (GO:0048519) 1.333GDF5, NOG, FGF9
regulation of gene expression (GO:0010468) 1.373GDF5, NOG, FGF9
embryonic morphogenesis (GO:0048598) 3.723GDF5, NOG, FGF9
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090092) 4.393GDF5, NOG, FGF9
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433GDF5, NOG, FGF9
regulation of cellular metabolic process (GO:0031323) 1.073GDF5, NOG, FGF9
cellular process (GO:0009987) 0.263GDF5, NOG, FGF9
regulation of biosynthetic process (GO:0009889) 1.373GDF5, NOG, FGF9
regulation of nucleic acid-templated transcription (GO:1903506) 1.553GDF5, NOG, FGF9
regulation of cellular process (GO:0050794) 0.53GDF5, NOG, FGF9
single-organism developmental process (GO:0044767) 1.493GDF5, NOG, FGF9
regulation of cell differentiation (GO:0045595) 2.423GDF5, NOG, FGF9
single-organism cellular process (GO:0044763) 0.653GDF5, NOG, FGF9
regulation of nitrogen compound metabolic process (GO:0051171) 1.363GDF5, NOG, FGF9
regulation of multicellular organismal process (GO:0051239) 1.873GDF5, NOG, FGF9
regulation of RNA biosynthetic process (GO:2001141) 1.553GDF5, NOG, FGF9
regulation of phosphorylation (GO:0042325) 2.53GDF5, NOG, FGF9
regulation of phosphorus metabolic process (GO:0051174) 2.353GDF5, NOG, FGF9
regulation of cellular protein metabolic process (GO:0032268) 1.993GDF5, NOG, FGF9
regulation of epithelial cell proliferation (GO:0050678) 4.063GDF5, NOG, FGF9
positive regulation of developmental process (GO:0051094) 2.773GDF5, NOG, FGF9
regulation of macromolecule metabolic process (GO:0060255) 1.083GDF5, NOG, FGF9
anatomical structure development (GO:0048856) 1.583GDF5, NOG, FGF9
developmental process (GO:0032502) 1.363GDF5, NOG, FGF9
regulation of transcription, DNA-templated (GO:0006355) 1.563GDF5, NOG, FGF9
regulation of macromolecule biosynthetic process (GO:0010556) 1.433GDF5, NOG, FGF9
regulation of multicellular organismal development (GO:2000026) 2.313GDF5, NOG, FGF9
regulation of protein phosphorylation (GO:0001932) 2.573GDF5, NOG, FGF9
regulation of growth (GO:0040008) 3.263GDF5, NOG, FGF9
negative regulation of cellular process (GO:0048523) 1.413GDF5, NOG, FGF9
positive regulation of cellular process (GO:0048522) 1.33GDF5, NOG, FGF9
nuclear transport (GO:0051169) 4.22GDF5, FGF9
protein localization (GO:0008104) 2.362GDF5, FGF9
negative regulation of response to stimulus (GO:0048585) 2.522NOG, FGF9
positive regulation of response to stimulus (GO:0048584) 2.182GDF5, FGF9
appendage morphogenesis (GO:0035107) 5.052GDF5, FGF9
skeletal system development (GO:0001501) 4.492NOG, FGF9
regulation of Wnt signaling pathway (GO:0030111) 3.982NOG, FGF9
limb morphogenesis (GO:0035108) 5.052GDF5, FGF9
transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) 3.542NOG, FGF9
regulation of BMP signaling pathway (GO:0030510) 5.362GDF5, NOG
cellular component organization or biogenesis (GO:0071840) 1.222GDF5, NOG
negative regulation of macromolecule metabolic process (GO:0010605) 2.012NOG, FGF9
negative regulation of signal transduction (GO:0009968) 2.752NOG, FGF9
cellular macromolecule localization (GO:0070727) 3.12GDF5, FGF9
positive regulation of signal transduction (GO:0009967) 2.52GDF5, FGF9
regulation of neuron differentiation (GO:0045664) 3.392GDF5, NOG
chondrocyte differentiation (GO:0002062) 5.882GDF5, FGF9
macromolecule localization (GO:0033036) 2.342GDF5, FGF9
regulation of striated muscle tissue development (GO:0016202) 5.092NOG, FGF9
negative regulation of cell death (GO:0060548) 2.952GDF5, NOG
protein import into nucleus (GO:0006606) 5.242GDF5, FGF9
establishment of protein localization (GO:0045184) 2.532GDF5, FGF9
developmental process involved in reproduction (GO:0003006) 3.362NOG, FGF9
cartilage development (GO:0051216) 5.312GDF5, NOG
transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) 4.62GDF5, NOG
single organism signaling (GO:0044700) 3.252GDF5, FGF9
positive regulation of phosphorylation (GO:0042327) 2.92GDF5, FGF9
single organism reproductive process (GO:0044702) 2.732NOG, FGF9
single-multicellular organism process (GO:0044707) 1.782NOG, FGF9
regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393) 5.632GDF5, NOG
regulation of canonical Wnt signaling pathway (GO:0060828) 4.262NOG, FGF9
negative regulation of metabolic process (GO:0009892) 1.932NOG, FGF9
negative regulation of biosynthetic process (GO:0009890) 2.472NOG, FGF9
negative regulation of gene expression (GO:0010629) 2.482NOG, FGF9
positive regulation of gene expression (GO:0010628) 2.352NOG, FGF9
regulation of apoptotic process (GO:0042981) 2.52GDF5, NOG
negative regulation of Wnt signaling pathway (GO:0030178) 4.442NOG, FGF9
positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090100) 5.122GDF5, FGF9
intracellular protein transport (GO:0006886) 3.22GDF5, FGF9
cellular component organization (GO:0016043) 1.242GDF5, NOG
regulation of molecular function (GO:0065009) 1.782NOG, FGF9
anatomical structure formation involved in morphogenesis (GO:0048646) 3.012NOG, FGF9
regulation of muscle tissue development (GO:1901861) 5.072NOG, FGF9
embryonic skeletal system development (GO:0048706) 5.972NOG, FGF9
regulation of cardiac muscle tissue development (GO:0055024) 5.862NOG, FGF9
transport (GO:0006810) 1.512GDF5, FGF9
tissue development (GO:0009888) 3.272NOG, FGF9
regulation of cardiac muscle tissue growth (GO:0055021) 6.122NOG, FGF9
regulation of intracellular signal transduction (GO:1902531) 2.312GDF5, FGF9
intracellular transport (GO:0046907) 2.672GDF5, FGF9
negative regulation of cartilage development (GO:0061037) 6.512GDF5, NOG
positive regulation of protein modification process (GO:0031401) 2.72GDF5, FGF9
regulation of nervous system development (GO:0051960) 3.12GDF5, NOG
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.532NOG, FGF9
establishment of localization in cell (GO:0051649) 2.472GDF5, FGF9
regulation of muscle organ development (GO:0048634) 5.072NOG, FGF9
positive regulation of signaling (GO:0023056) 2.412GDF5, FGF9
negative regulation of signaling (GO:0023057) 2.652NOG, FGF9
signaling (GO:0023052) 3.252GDF5, FGF9
negative regulation of cell communication (GO:0010648) 2.662NOG, FGF9
regulation of cardiac muscle cell proliferation (GO:0060043) 6.332NOG, FGF9
positive regulation of cell communication (GO:0010647) 2.412GDF5, FGF9
fibroblast growth factor receptor signaling pathway (GO:0008543) 5.32NOG, FGF9
regulation of MAPK cascade (GO:0043408) 3.222GDF5, FGF9
regulation of neurogenesis (GO:0050767) 3.212GDF5, NOG
establishment of localization (GO:0051234) 1.482GDF5, FGF9
negative regulation of transcription from RNA polymerase II promoter (GO:0000122) 3.122NOG, FGF9
positive regulation of phosphorus metabolic process (GO:0010562) 2.782GDF5, FGF9
negative regulation of multicellular organismal process (GO:0051241) 2.842GDF5, NOG
positive regulation of protein metabolic process (GO:0051247) 2.432GDF5, FGF9
regulation of cell development (GO:0060284) 3.012GDF5, NOG
positive regulation of cellular protein metabolic process (GO:0032270) 2.492GDF5, FGF9
positive regulation of cell proliferation (GO:0008284) 3.012NOG, FGF9
negative regulation of cell proliferation (GO:0008285) 3.262GDF5, NOG
regulation of heart growth (GO:0060420) 5.972NOG, FGF9
multicellular organismal process (GO:0032501) 1.452NOG, FGF9
single-organism nuclear import (GO:1902593) 5.242GDF5, FGF9
establishment of protein localization to organelle (GO:0072594) 3.922GDF5, FGF9
protein import (GO:0017038) 4.852GDF5, FGF9
negative regulation of nucleic acid-templated transcription (GO:1903507) 2.712NOG, FGF9
negative regulation of cell differentiation (GO:0045596) 3.332GDF5, NOG
negative regulation of transcription, DNA-templated (GO:0045892) 2.752NOG, FGF9
negative regulation of developmental process (GO:0051093) 3.172GDF5, NOG
positive regulation of epithelial cell proliferation (GO:0050679) 4.672NOG, FGF9
negative regulation of RNA metabolic process (GO:0051253) 2.662NOG, FGF9
protein localization to organelle (GO:0033365) 3.572GDF5, FGF9
system development (GO:0048731) 2.922NOG, FGF9
protein localization to nucleus (GO:0034504) 4.92GDF5, FGF9
embryonic limb morphogenesis (GO:0030326) 5.242GDF5, FGF9
negative regulation of cellular biosynthetic process (GO:0031327) 2.492NOG, FGF9
negative regulation of cellular metabolic process (GO:0031324) 2.012NOG, FGF9
regulation of cell death (GO:0010941) 2.432GDF5, NOG
multicellular organism development (GO:0007275) 2.542NOG, FGF9
osteoblast differentiation (GO:0001649) 5.052NOG, FGF9
negative regulation of cellular macromolecule biosynthetic process (GO:2000113) 2.62NOG, FGF9
regulation of programmed cell death (GO:0043067) 2.492GDF5, NOG
negative regulation of apoptotic process (GO:0043066) 3.042GDF5, NOG
organic substance transport (GO:0071702) 2.152GDF5, FGF9
negative regulation of programmed cell death (GO:0043069) 3.022GDF5, NOG
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552NOG, FGF9
positive regulation of phosphate metabolic process (GO:0045937) 2.782GDF5, FGF9
regulation of organ growth (GO:0046620) 5.412NOG, FGF9
cellular protein localization (GO:0034613) 3.112GDF5, FGF9
nucleocytoplasmic transport (GO:0006913) 4.232GDF5, FGF9
negative regulation of RNA biosynthetic process (GO:1902679) 2.72NOG, FGF9
reproductive process (GO:0022414) 2.552NOG, FGF9
single-organism transport (GO:0044765) 2.182GDF5, FGF9
regulation of cartilage development (GO:0061035) 5.62GDF5, NOG
nuclear import (GO:0051170) 5.062GDF5, FGF9
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472NOG, FGF9
embryonic appendage morphogenesis (GO:0035113) 5.242GDF5, FGF9
cell-cell signaling (GO:0007267) 3.352GDF5, FGF9
cell communication (GO:0007154) 3.042GDF5, FGF9
tube development (GO:0035295) 4.412NOG, FGF9
localization (GO:0051179) 1.42GDF5, FGF9
single-organism localization (GO:1902578) 2.092GDF5, FGF9
cellular localization (GO:0051641) 2.322GDF5, FGF9
protein transport (GO:0015031) 2.622GDF5, FGF9
single-organism intracellular transport (GO:1902582) 3.592GDF5, FGF9
single-organism cellular localization (GO:1902580) 3.162GDF5, FGF9
positive regulation of protein phosphorylation (GO:0001934) 2.952GDF5, FGF9

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of muscle tissue development (GO:1901861) -5.070.046NOG, FGF9
morphogenesis of embryonic epithelium (GO:0016331) NEW6.470.033NOG, FGF9
limb morphogenesis (GO:0035108) -5.050.033GDF5, NOG, FGF9
embryonic limb morphogenesis (GO:0030326) -5.240.002GDF5, NOG, FGF9
negative regulation of reproductive process (GO:2000242) NEW5.760.049GDF5, FGF9
enzyme linked receptor protein signaling pathway (GO:0007167) -3.240.027GDF5, NOG, FGF9
appendage morphogenesis (GO:0035107) -5.050.033GDF5, NOG, FGF9
regulation of muscle organ development (GO:0048634) -5.070.047NOG, FGF9
skeletal system development (GO:0001501) -4.490.02GDF5, NOG, FGF9
regulation of Wnt signaling pathway (GO:0030111) -3.980.038GDF5, NOG, FGF9
regulation of neuron apoptotic process (GO:0043523) NEW4.470.023GDF5, NOG, FGF9
face morphogenesis (GO:0060325) NEW6.290.044GDF5, NOG
regulation of cardiac muscle cell proliferation (GO:0060043) -6.330.003NOG, FGF9
embryonic morphogenesis (GO:0048598) -3.720.004GDF5, NOG, FGF9
osteoblast differentiation (GO:0001649) -5.050.033GDF5, NOG, FGF9
regulation of growth (GO:0040008) -3.260.011GDF5, NOG, FGF9
response to growth factor (GO:0070848) NEW4.140.012GDF5, NOG, FGF9
regulation of osteoblast differentiation (GO:0045667) NEW4.990.003GDF5, NOG, FGF9
positive regulation of chondrocyte differentiation (GO:0032332) NEW6.780.011GDF5, FGF9
chondrocyte differentiation (GO:0002062) -5.880.006GDF5, FGF9
lateral sprouting from an epithelium (GO:0060601) NEW7.650.002NOG, FGF9
cellular response to endogenous stimulus (GO:0071495) NEW3.330.041GDF5, NOG, FGF9
regulation of striated muscle tissue development (GO:0016202) -5.090.045NOG, FGF9
regulation of heart growth (GO:0060420) -5.970.006NOG, FGF9
embryonic skeletal system development (GO:0048706) -5.970.0GDF5, NOG, FGF9
regulation of organ growth (GO:0046620) -5.410.019NOG, FGF9
negative regulation of mesenchymal cell apoptotic process (GO:2001054) NEW7.430.002GDF5, NOG
regulation of cardiac muscle tissue development (GO:0055024) -5.860.009NOG, FGF9
regulation of cardiac muscle tissue growth (GO:0055021) -6.120.005NOG, FGF9
regulation of cartilage development (GO:0061035) -5.60.009GDF5, NOG, FGF9
forelimb morphogenesis (GO:0035136) NEW6.040.045GDF5, NOG
embryonic appendage morphogenesis (GO:0035113) -5.240.002GDF5, NOG, FGF9
regulation of epithelial cell proliferation (GO:0050678) -4.060.001GDF5, NOG, FGF9
regulation of ossification (GO:0030278) NEW4.530.019GDF5, NOG, FGF9
regulation of fibroblast growth factor receptor signaling pathway (GO:0040036) NEW6.510.022NOG, FGF9
cellular response to growth factor stimulus (GO:0071363) NEW4.270.011GDF5, NOG, FGF9
positive regulation of developmental process (GO:0051094) -2.770.036GDF5, NOG, FGF9
ossification (GO:0001503) NEW4.860.007GDF5, NOG, FGF9
regulation of canonical Wnt signaling pathway (GO:0060828) -4.260.012GDF5, NOG, FGF9
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
extracellular region (GO:0005576) 2.183GDF5, NOG, FGF9
extracellular region part (GO:0044421) 1.573GDF5, NOG, FGF9
extracellular space (GO:0005615) 2.633GDF5, NOG, FGF9
cell part (GO:0044464) 0.112GDF5, FGF9

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular region (GO:0005576) -2.180.011GDF5, NOG, FGF9
extracellular matrix part (GO:0044420) NEW4.970.039NOG, FGF9
extracellular space (GO:0005615) -2.630.004GDF5, NOG, FGF9