Disease table of KLIPPEL-FEIL SYNDROME OMIM ID: PS118100

Gene-disease associations table

GeneAssociated with KLIPPEL-FEIL SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
GDF3ClinVar, OMIM, HUMSAVARHGNC link12p13.314PS300345, PS118100, 120200, PS251600
MYO18BClinVar, OMIMHGNC link22q12.11PS118100
GDF6ClinVar, OMIM, HUMSAVARHGNC link8q22.14PS300345, PS118100, PS204000, PS251600
MEOX1ClinVar, OMIMHGNC link17q21.311PS118100

Download the disease annotation in CSV format

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
GDF3YES1NANOG0
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
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
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) 0.184MEOX1, MYO18B, GDF6, GDF3
protein binding (GO:0005515) 0.464MEOX1, MYO18B, GDF6, GDF3
cytokine receptor binding (GO:0005126) 4.142GDF6, GDF3
cytokine activity (GO:0005125) 4.342GDF6, GDF3
growth factor activity (GO:0008083) 4.662GDF6, GDF3
organic cyclic compound binding (GO:0097159) 1.052MEOX1, MYO18B
transforming growth factor beta receptor binding (GO:0005160) 5.812GDF6, GDF3
receptor binding (GO:0005102) 2.432GDF6, GDF3
heterocyclic compound binding (GO:1901363) 1.062MEOX1, MYO18B

NET-GE enrichment

Term New enriched termICP valueGenes
growth factor activity (GO:0008083) -4.660.031GDF6, GDF3
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.364MEOX1, MYO18B, GDF6, GDF3
multicellular organismal process (GO:0032501) 1.454MEOX1, MYO18B, GDF6, GDF3
single-multicellular organism process (GO:0044707) 1.784MEOX1, MYO18B, GDF6, GDF3
cellular developmental process (GO:0048869) 1.824MEOX1, MYO18B, GDF6, GDF3
cellular process (GO:0009987) 0.264MEOX1, MYO18B, GDF6, GDF3
single-organism developmental process (GO:0044767) 1.494MEOX1, MYO18B, GDF6, GDF3
single-organism cellular process (GO:0044763) 0.654MEOX1, MYO18B, GDF6, GDF3
multicellular organism development (GO:0007275) 2.544MEOX1, MYO18B, GDF6, GDF3
single-organism process (GO:0044699) 0.484MEOX1, MYO18B, GDF6, GDF3
anatomical structure development (GO:0048856) 1.584MEOX1, MYO18B, GDF6, GDF3
positive regulation of metabolic process (GO:0009893) 1.743MEOX1, GDF6, GDF3
regulation of metabolic process (GO:0019222) 1.023MEOX1, GDF6, GDF3
regulation of cellular biosynthetic process (GO:0031326) 1.383MEOX1, GDF6, GDF3
positive regulation of cellular metabolic process (GO:0031325) 1.813MEOX1, GDF6, GDF3
cell differentiation (GO:0030154) 2.143MEOX1, MYO18B, GDF6
cell development (GO:0048468) 3.283MYO18B, GDF6, GDF3
regulation of biological process (GO:0050789) 0.453MEOX1, GDF6, GDF3
regulation of primary metabolic process (GO:0080090) 1.083MEOX1, GDF6, GDF3
positive regulation of macromolecule metabolic process (GO:0010604) 1.813MEOX1, GDF6, GDF3
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463MEOX1, GDF6, GDF3
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433MEOX1, GDF6, GDF3
regulation of macromolecule biosynthetic process (GO:0010556) 1.433MEOX1, GDF6, GDF3
biological regulation (GO:0065007) 0.393MEOX1, GDF6, GDF3
positive regulation of biological process (GO:0048518) 1.23MEOX1, GDF6, GDF3
regulation of gene expression (GO:0010468) 1.373MEOX1, GDF6, GDF3
regulation of macromolecule metabolic process (GO:0060255) 1.083MEOX1, GDF6, GDF3
regulation of cellular metabolic process (GO:0031323) 1.073MEOX1, GDF6, GDF3
regulation of biosynthetic process (GO:0009889) 1.373MEOX1, GDF6, GDF3
regulation of nucleic acid-templated transcription (GO:1903506) 1.553MEOX1, GDF6, GDF3
regulation of cellular process (GO:0050794) 0.53MEOX1, GDF6, GDF3
regulation of nitrogen compound metabolic process (GO:0051171) 1.363MEOX1, GDF6, GDF3
regulation of RNA biosynthetic process (GO:2001141) 1.553MEOX1, GDF6, GDF3
regulation of RNA metabolic process (GO:0051252) 1.523MEOX1, GDF6, GDF3
regulation of transcription, DNA-templated (GO:0006355) 1.563MEOX1, GDF6, GDF3
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.243MEOX1, GDF6, GDF3
positive regulation of cellular process (GO:0048522) 1.33MEOX1, GDF6, GDF3
regulation of phosphate metabolic process (GO:0019220) 2.352GDF6, GDF3
regulation of multicellular organismal process (GO:0051239) 1.872GDF6, GDF3
positive regulation of biosynthetic process (GO:0009891) 2.292MEOX1, GDF6
positive regulation of response to stimulus (GO:0048584) 2.182GDF6, GDF3
regulation of response to stimulus (GO:0048583) 1.542GDF6, GDF3
positive regulation of signaling (GO:0023056) 2.412GDF6, GDF3
embryo development (GO:0009790) 4.22MYO18B, GDF3
positive regulation of gene expression (GO:0010628) 2.352MEOX1, GDF6
signal transduction (GO:0007165) 1.282GDF6, GDF3
regulation of signaling (GO:0023051) 1.722GDF6, GDF3
positive regulation of cell communication (GO:0010647) 2.412GDF6, GDF3
positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862) 5.862GDF6, GDF3
regulation of apoptotic process (GO:0042981) 2.52GDF6, GDF3
regulation of MAPK cascade (GO:0043408) 3.222GDF6, GDF3
pattern specification process (GO:0007389) 3.792MEOX1, GDF3
regulation of cell communication (GO:0010646) 1.732GDF6, GDF3
growth (GO:0040007) 3.82GDF6, GDF3
cellular macromolecule metabolic process (GO:0044260) 0.932MEOX1, GDF6
regulation of signal transduction (GO:0009966) 1.842GDF6, GDF3
positive regulation of signal transduction (GO:0009967) 2.52GDF6, GDF3
positive regulation of phosphorus metabolic process (GO:0010562) 2.782GDF6, GDF3
positive regulation of cellular biosynthetic process (GO:0031328) 2.32MEOX1, GDF6
regulation of protein metabolic process (GO:0051246) 1.932GDF6, GDF3
positive regulation of protein metabolic process (GO:0051247) 2.432GDF6, GDF3
organic substance metabolic process (GO:0071704) 0.632MEOX1, GDF6
regulation of programmed cell death (GO:0043067) 2.492GDF6, GDF3
positive regulation of cellular protein metabolic process (GO:0032270) 2.492GDF6, GDF3
regulation of protein modification process (GO:0031399) 2.322GDF6, GDF3
chordate embryonic development (GO:0043009) 4.382MYO18B, GDF3
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562MEOX1, GDF6
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090092) 4.392GDF6, GDF3
macromolecule metabolic process (GO:0043170) 0.832MEOX1, GDF6
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352MEOX1, GDF6
embryonic pattern specification (GO:0009880) 5.82MEOX1, GDF3
positive regulation of phosphate metabolic process (GO:0045937) 2.782GDF6, GDF3
regulation of developmental process (GO:0050793) 2.12GDF6, GDF3
tissue development (GO:0009888) 3.272MEOX1, GDF3
regulation of phosphorus metabolic process (GO:0051174) 2.352GDF6, GDF3
regulation of cell differentiation (GO:0045595) 2.422GDF6, GDF3
in utero embryonic development (GO:0001701) 4.42MYO18B, GDF3
positive regulation of transcription, DNA-templated (GO:0045893) 2.562MEOX1, GDF6
metabolic process (GO:0008152) 0.582MEOX1, GDF6
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292MEOX1, GDF6
regulation of intracellular signal transduction (GO:1902531) 2.312GDF6, GDF3
regulation of phosphorylation (GO:0042325) 2.52GDF6, GDF3
primary metabolic process (GO:0044238) 0.692MEOX1, GDF6
positive regulation of phosphorylation (GO:0042327) 2.92GDF6, GDF3
regulation of cellular protein metabolic process (GO:0032268) 1.992GDF6, GDF3
positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090100) 5.122GDF6, GDF3
SMAD protein signal transduction (GO:0060395) 5.652GDF6, GDF3
positive regulation of protein modification process (GO:0031401) 2.72GDF6, GDF3
regulation of cell death (GO:0010941) 2.432GDF6, GDF3
positive regulation of RNA metabolic process (GO:0051254) 2.512MEOX1, GDF6
cellular metabolic process (GO:0044237) 0.692MEOX1, GDF6
regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393) 5.632GDF6, GDF3
positive regulation of RNA biosynthetic process (GO:1902680) 2.542MEOX1, GDF6
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392MEOX1, GDF6
embryo development ending in birth or egg hatching (GO:0009792) 4.352MYO18B, GDF3
regulation of multicellular organismal development (GO:2000026) 2.312GDF6, GDF3
regulation of protein phosphorylation (GO:0001932) 2.572GDF6, GDF3
positive regulation of protein phosphorylation (GO:0001934) 2.952GDF6, GDF3

NET-GE enrichment

Term New enriched termICP valueGenes
embryonic pattern specification (GO:0009880) -5.80.009MEOX1, GDF3
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.013MEOX1, MYO18B, GDF3
intracellular part (GO:0044424) 0.283MEOX1, MYO18B, GDF3
cell part (GO:0044464) 0.113MEOX1, MYO18B, GDF3
intracellular membrane-bounded organelle (GO:0043231) 0.62MEOX1, MYO18B
nucleus (GO:0005634) 1.072MEOX1, MYO18B
extracellular region part (GO:0044421) 1.572GDF6, GDF3
intracellular organelle (GO:0043229) 0.512MEOX1, MYO18B
extracellular region (GO:0005576) 2.182GDF6, GDF3
membrane-bounded organelle (GO:0043227) 0.472MEOX1, MYO18B
organelle (GO:0043226) 0.42MEOX1, MYO18B
extracellular space (GO:0005615) 2.632GDF6, GDF3