Disease table of PALLISTER-HALL SYNDROME OMIM ID: 146510

Gene-disease associations table

GeneAssociated with PALLISTER-HALL SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
GLI3ClinVar, OMIMHGNC link7p14.15174700, 174200, 241800, 146510, 175700
KIF7HUMSAVARHGNC link15q26.15146510, PS236680, PS209900, 607131, PS213300

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
GLI3YES2SMO, VMP10
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
GLI3KIF7yes, they interactThey are in interaction. [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
Hedgehog 'off' stateR-HSA-56107876.192KIF7, GLI3
Signal TransductionR-HSA-1625821.782KIF7, GLI3
Signaling by HedgehogR-HSA-53583515.792KIF7, GLI3

NET-GE enrichment

Term New enriched termICP valueGenes
Hedgehog 'off' state (R-HSA-5610787) -6.190.004GLI3, KIF7
Signaling by Hedgehog (R-HSA-5358351) -5.790.01GLI3, KIF7
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
organic cyclic compound binding (GO:0097159) 1.052GLI3, KIF7
binding (GO:0005488) 0.182KIF7, GLI3
protein binding (GO:0005515) 0.462GLI3, KIF7
heterocyclic compound binding (GO:1901363) 1.062GLI3, KIF7
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
negative regulation of cell communication (GO:0010648) 2.662GLI3, KIF7
regulation of smoothened signaling pathway (GO:0008589) 5.622KIF7, GLI3
regulation of cell communication (GO:0010646) 1.732GLI3, KIF7
negative regulation of signal transduction (GO:0009968) 2.752KIF7, GLI3
regulation of signal transduction (GO:0009966) 1.842GLI3, KIF7
negative regulation of response to stimulus (GO:0048585) 2.522KIF7, GLI3
cellular process (GO:0009987) 0.262GLI3, KIF7
regulation of response to stimulus (GO:0048583) 1.542KIF7, GLI3
negative regulation of smoothened signaling pathway (GO:0045879) 6.552KIF7, GLI3
regulation of cellular process (GO:0050794) 0.52KIF7, GLI3
negative regulation of signaling (GO:0023057) 2.652KIF7, GLI3
biological regulation (GO:0065007) 0.392KIF7, GLI3
single-organism cellular process (GO:0044763) 0.652KIF7, GLI3
negative regulation of cellular process (GO:0048523) 1.412KIF7, GLI3
regulation of signaling (GO:0023051) 1.722KIF7, GLI3
positive regulation of biological process (GO:0048518) 1.22GLI3, KIF7
negative regulation of biological process (GO:0048519) 1.332KIF7, GLI3
movement of cell or subcellular component (GO:0006928) 2.612KIF7, GLI3
regulation of biological process (GO:0050789) 0.452KIF7, GLI3
single-organism process (GO:0044699) 0.482KIF7, GLI3
positive regulation of cellular process (GO:0048522) 1.32GLI3, KIF7

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of smoothened signaling pathway (GO:0008589) -5.620.046KIF7, GLI3
smoothened signaling pathway (GO:0007224) NEW5.450.006GLI3, KIF7
negative regulation of smoothened signaling pathway (GO:0045879) -6.550.001KIF7, GLI3
positive regulation of smoothened signaling pathway (GO:0045880) NEW6.550.007GLI3, KIF7
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.512GLI3, KIF7
macromolecular complex (GO:0032991) 1.352KIF7, GLI3
cell projection part (GO:0044463) 2.972KIF7, GLI3
cell part (GO:0044464) 0.112GLI3, KIF7
intracellular organelle part (GO:0044446) 0.812GLI3, KIF7
ciliary tip (GO:0097542) 6.042KIF7, GLI3
cytoskeletal part (GO:0044430) 2.492KIF7, GLI3
cilium (GO:0005929) 3.892GLI3, KIF7
intracellular part (GO:0044424) 0.282GLI3, KIF7
cell projection (GO:0042995) 2.472GLI3, KIF7
organelle (GO:0043226) 0.42KIF7, GLI3
organelle part (GO:0044422) 0.792GLI3, KIF7
ciliary part (GO:0044441) 4.052GLI3, KIF7

NET-GE enrichment

Term New enriched termICP valueGenes
cilium (GO:0005929) -3.890.004GLI3, KIF7