Disease table of PROXIMAL SYMPHALANGISM OMIM ID: PS185800

Gene-disease associations table

GeneAssociated with PROXIMAL SYMPHALANGISM 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

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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
NOGGDF5Yesactivation, binding6BMPR1A, BMP4, BMPR2, BMP7, BMPR1B, BMP2

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) -6.410.008GDF5, NOG
Hippo signaling pathway (hsa04390) NEW5.370.042GDF5, NOG
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
identical protein binding (GO:0042802) 2.632GDF5, NOG
cytokine binding (GO:0019955) 5.212GDF5, NOG
binding (GO:0005488) 0.182GDF5, NOG
protein binding (GO:0005515) 0.462GDF5, NOG

NET-GE enrichment

Term New enriched termICP valueGenes
cytokine activity (GO:0005125) NEW4.340.042GDF5, NOG
growth factor activity (GO:0008083) NEW4.660.027GDF5, NOG
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular component organization (GO:0016043) 1.242GDF5, NOG
regulation of developmental growth (GO:0048638) 4.042GDF5, NOG
regulation of RNA metabolic process (GO:0051252) 1.522GDF5, NOG
regulation of phosphate metabolic process (GO:0019220) 2.352GDF5, NOG
positive regulation of metabolic process (GO:0009893) 1.742GDF5, NOG
regulation of metabolic process (GO:0019222) 1.022GDF5, NOG
regulation of nitrogen compound metabolic process (GO:0051171) 1.362GDF5, NOG
regulation of protein metabolic process (GO:0051246) 1.932GDF5, NOG
positive regulation of cellular metabolic process (GO:0031325) 1.812GDF5, NOG
cell differentiation (GO:0030154) 2.142GDF5, NOG
regulation of developmental process (GO:0050793) 2.12GDF5, NOG
regulation of cellular biosynthetic process (GO:0031326) 1.382GDF5, NOG
regulation of cellular metabolic process (GO:0031323) 1.072GDF5, NOG
regulation of cell proliferation (GO:0042127) 2.412GDF5, NOG
positive regulation of developmental process (GO:0051094) 2.772GDF5, NOG
signal transduction (GO:0007165) 1.282GDF5, NOG
cell surface receptor signaling pathway (GO:0007166) 2.092GDF5, NOG
enzyme linked receptor protein signaling pathway (GO:0007167) 3.242GDF5, NOG
anatomical structure morphogenesis (GO:0009653) 2.532GDF5, NOG
regulation of apoptotic process (GO:0042981) 2.52GDF5, NOG
regulation of biological process (GO:0050789) 0.452GDF5, NOG
single-organism process (GO:0044699) 0.482GDF5, NOG
regulation of primary metabolic process (GO:0080090) 1.082GDF5, NOG
regulation of neurogenesis (GO:0050767) 3.212GDF5, NOG
regulation of cellular response to growth factor stimulus (GO:0090287) 4.292GDF5, NOG
regulation of cell communication (GO:0010646) 1.732GDF5, NOG
positive regulation of macromolecule metabolic process (GO:0010604) 1.812GDF5, NOG
regulation of transcription, DNA-templated (GO:0006355) 1.562GDF5, NOG
regulation of nervous system development (GO:0051960) 3.12GDF5, NOG
cellular developmental process (GO:0048869) 1.822GDF5, NOG
positive regulation of multicellular organismal process (GO:0051240) 2.492GDF5, NOG
negative regulation of multicellular organismal process (GO:0051241) 2.842GDF5, NOG
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462GDF5, NOG
regulation of cell development (GO:0060284) 3.012GDF5, NOG
regulation of signaling (GO:0023051) 1.722GDF5, NOG
regulation of neuron differentiation (GO:0045664) 3.392GDF5, NOG
regulation of programmed cell death (GO:0043067) 2.492GDF5, NOG
animal organ development (GO:0048513) 2.532GDF5, NOG
biological regulation (GO:0065007) 0.392GDF5, NOG
cellular component organization or biogenesis (GO:0071840) 1.222GDF5, NOG
regulation of nucleic acid-templated transcription (GO:1903506) 1.552GDF5, NOG
regulation of protein modification process (GO:0031399) 2.322GDF5, NOG
positive regulation of biological process (GO:0048518) 1.22GDF5, NOG
negative regulation of biological process (GO:0048519) 1.332GDF5, NOG
regulation of BMP signaling pathway (GO:0030510) 5.362GDF5, NOG
negative regulation of programmed cell death (GO:0043069) 3.022GDF5, NOG
regulation of gene expression (GO:0010468) 1.372GDF5, NOG
embryonic morphogenesis (GO:0048598) 3.722GDF5, NOG
negative regulation of cell proliferation (GO:0008285) 3.262GDF5, NOG
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090092) 4.392GDF5, NOG
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432GDF5, NOG
negative regulation of cell death (GO:0060548) 2.952GDF5, NOG
cellular process (GO:0009987) 0.262GDF5, NOG
regulation of biosynthetic process (GO:0009889) 1.372GDF5, NOG
negative regulation of apoptotic process (GO:0043066) 3.042GDF5, NOG
regulation of response to stimulus (GO:0048583) 1.542GDF5, NOG
regulation of cellular process (GO:0050794) 0.52GDF5, NOG
single-organism developmental process (GO:0044767) 1.492GDF5, NOG
negative regulation of cartilage development (GO:0061037) 6.512GDF5, NOG
regulation of cell differentiation (GO:0045595) 2.422GDF5, NOG
regulation of cartilage development (GO:0061035) 5.62GDF5, NOG
single-organism cellular process (GO:0044763) 0.652GDF5, NOG
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242GDF5, NOG
regulation of multicellular organismal process (GO:0051239) 1.872GDF5, NOG
regulation of RNA biosynthetic process (GO:2001141) 1.552GDF5, NOG
transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) 4.62GDF5, NOG
regulation of phosphorylation (GO:0042325) 2.52GDF5, NOG
regulation of phosphorus metabolic process (GO:0051174) 2.352GDF5, NOG
cartilage development (GO:0051216) 5.312GDF5, NOG
regulation of epithelial cell proliferation (GO:0050678) 4.062GDF5, NOG
negative regulation of developmental process (GO:0051093) 3.172GDF5, NOG
negative regulation of cell differentiation (GO:0045596) 3.332GDF5, NOG
regulation of macromolecule metabolic process (GO:0060255) 1.082GDF5, NOG
anatomical structure development (GO:0048856) 1.582GDF5, NOG
regulation of cell death (GO:0010941) 2.432GDF5, NOG
regulation of cellular protein metabolic process (GO:0032268) 1.992GDF5, NOG
regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393) 5.632GDF5, NOG
developmental process (GO:0032502) 1.362GDF5, NOG
regulation of signal transduction (GO:0009966) 1.842GDF5, NOG
regulation of macromolecule biosynthetic process (GO:0010556) 1.432GDF5, NOG
regulation of multicellular organismal development (GO:2000026) 2.312GDF5, NOG
regulation of protein phosphorylation (GO:0001932) 2.572GDF5, NOG
regulation of growth (GO:0040008) 3.262GDF5, NOG
negative regulation of cellular process (GO:0048523) 1.412GDF5, NOG
positive regulation of cellular process (GO:0048522) 1.32GDF5, NOG

NET-GE enrichment

Term New enriched termICP valueGenes
embryonic skeletal system development (GO:0048706) NEW5.970.021GDF5, NOG
negative regulation of mesenchymal cell apoptotic process (GO:2001054) NEW7.430.0GDF5, NOG
face morphogenesis (GO:0060325) NEW6.290.01GDF5, NOG
hindlimb morphogenesis (GO:0035137) NEW6.120.014GDF5, NOG
forelimb morphogenesis (GO:0035136) NEW6.040.01GDF5, NOG
regulation of cartilage development (GO:0061035) -5.60.002GDF5, NOG
transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) -4.60.033GDF5, NOG
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
extracellular region (GO:0005576) 2.182GDF5, NOG
extracellular space (GO:0005615) 2.632GDF5, NOG
extracellular region part (GO:0044421) 1.572GDF5, NOG

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular region (GO:0005576) -2.180.049GDF5, NOG
extracellular space (GO:0005615) -2.630.026GDF5, NOG