Disease table of CRANIOECTODERMAL DYSPLASIA OMIM ID: PS218330

Gene-disease associations table

GeneAssociated with CRANIOECTODERMAL DYSPLASIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
WDR35ClinVar, OMIM, HUMSAVARHGNC link2p24.12PS218330, PS208500
IFT43ClinVar, OMIMHGNC link14q24.31PS218330
IFT122ClinVar, OMIM, HUMSAVARHGNC link3q21.31PS218330
WDR19ClinVar, OMIM, HUMSAVARHGNC link4p144PS256100, 616307, PS208500, PS218330

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
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
WDR35IFT43No2IFT122, C11ORF74
WDR35IFT122Yes2NTRK1, C11ORF74
WDR35WDR19No2IFT122, C11ORF74
IFT43IFT122Yes1C11ORF74
IFT43WDR19No2IFT122, C11ORF74
IFT122WDR19Yes1C11ORF74

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
WDR35IFT43Yesbinding4IFT122, IFT140, TTC21B, WDR19
WDR35IFT122Yesbinding5IFT52, IFT140, IFT43, TTC21B, WDR19
WDR35WDR19Yesbinding5IFT52, IFT140, IFT43, TTC21B, IFT122
IFT43IFT122Yesbinding4WDR35, IFT140, TTC21B, WDR19
IFT43WDR19Yesbinding4TTC21B, WDR35, IFT140, IFT122
IFT122WDR19Yesbinding7WDR35, IFT27, IFT140, IFT52, TTC21B, IFT43, IFT88

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 (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Organelle biogenesis and maintenanceR-HSA-18522414.634WDR35, IFT43, IFT122, WDR19
Assembly of the primary ciliumR-HSA-56178335.444WDR35, IFT43, IFT122, WDR19
Intraflagellar transportR-HSA-56209247.254WDR35, IFT43, IFT122, WDR19
Hedgehog 'off' stateR-HSA-56107876.193WDR35, IFT122, WDR19
Signal TransductionR-HSA-1625821.783WDR35, IFT122, WDR19
Signaling by HedgehogR-HSA-53583515.793WDR35, IFT122, WDR19

NET-GE enrichment

Term New enriched termICP valueGenes
Organelle biogenesis and maintenance (R-HSA-1852241) -4.630.0WDR35, IFT43, IFT122, WDR19
Intraflagellar transport (R-HSA-5620924) -7.250.0WDR35, IFT43, IFT122, WDR19
Hedgehog 'off' state (R-HSA-5610787) -6.190.0WDR35, IFT122, WDR19
Assembly of the primary cilium (R-HSA-5617833) -5.440.0WDR35, IFT43, IFT122, WDR19
Signaling by Hedgehog (R-HSA-5358351) -5.790.0WDR35, IFT122, WDR19
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183WDR35, IFT43, IFT122
protein binding (GO:0005515) 0.462IFT122, IFT43
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein localization (GO:0008104) 2.364WDR35, IFT43, IFT122, WDR19
cell projection organization (GO:0030030) 3.144WDR35, IFT43, IFT122, WDR19
intraciliary transport (GO:0042073) 6.434WDR35, IFT43, IFT122, WDR19
movement of cell or subcellular component (GO:0006928) 2.614WDR35, IFT43, IFT122, WDR19
single-organism process (GO:0044699) 0.484WDR35, IFT43, IFT122, WDR19
intracellular protein transport (GO:0006886) 3.24WDR35, IFT43, IFT122, WDR19
cellular component organization (GO:0016043) 1.244WDR35, IFT43, IFT122, WDR19
cytoskeleton-dependent intracellular transport (GO:0030705) 4.964WDR35, IFT43, IFT122, WDR19
protein transport along microtubule (GO:0098840) 6.434WDR35, IFT43, IFT122, WDR19
cellular component organization or biogenesis (GO:0071840) 1.224WDR35, IFT43, IFT122, WDR19
intraciliary retrograde transport (GO:0035721) 7.534WDR35, IFT43, IFT122, WDR19
organic substance transport (GO:0071702) 2.154WDR35, IFT43, IFT122, WDR19
macromolecule localization (GO:0033036) 2.344WDR35, IFT43, IFT122, WDR19
developmental process (GO:0032502) 1.364WDR35, IFT43, IFT122, WDR19
cellular process (GO:0009987) 0.264WDR35, IFT43, IFT122, WDR19
transport (GO:0006810) 1.514WDR35, IFT43, IFT122, WDR19
establishment of protein localization (GO:0045184) 2.534WDR35, IFT43, IFT122, WDR19
single-organism transport (GO:0044765) 2.184WDR35, IFT43, IFT122, WDR19
establishment of localization by movement along microtubule (GO:0010970) 5.144WDR35, IFT43, IFT122, WDR19
single-organism cellular process (GO:0044763) 0.654WDR35, IFT43, IFT122, WDR19
establishment of localization in cell (GO:0051649) 2.474WDR35, IFT43, IFT122, WDR19
establishment of localization (GO:0051234) 1.484WDR35, IFT43, IFT122, WDR19
localization (GO:0051179) 1.44WDR35, IFT43, IFT122, WDR19
single-organism localization (GO:1902578) 2.094WDR35, IFT43, IFT122, WDR19
cellular localization (GO:0051641) 2.324WDR35, IFT43, IFT122, WDR19
protein complex localization (GO:0031503) 5.624WDR35, IFT43, IFT122, WDR19
single-organism developmental process (GO:0044767) 1.494WDR35, IFT43, IFT122, WDR19
microtubule-based process (GO:0007017) 3.544WDR35, IFT43, IFT122, WDR19
intracellular transport (GO:0046907) 2.674WDR35, IFT43, IFT122, WDR19
microtubule-based movement (GO:0007018) 4.394WDR35, IFT43, IFT122, WDR19
protein transport (GO:0015031) 2.624WDR35, IFT43, IFT122, WDR19
single-organism intracellular transport (GO:1902582) 3.594WDR35, IFT43, IFT122, WDR19
single-organism cellular localization (GO:1902580) 3.164WDR35, IFT43, IFT122, WDR19
organelle organization (GO:0006996) 2.023WDR35, IFT122, WDR19
cilium assembly (GO:0042384) 4.773WDR35, IFT122, WDR19
cell part morphogenesis (GO:0032990) 3.993IFT122, IFT43, WDR19
cilium morphogenesis (GO:0060271) 5.543IFT122, IFT43, WDR19
cellular macromolecule localization (GO:0070727) 3.13WDR35, IFT122, WDR19
anatomical structure morphogenesis (GO:0009653) 2.533IFT122, IFT43, WDR19
cellular developmental process (GO:0048869) 1.823IFT122, IFT43, WDR19
cellular protein localization (GO:0034613) 3.113WDR35, IFT122, WDR19
cellular component assembly involved in morphogenesis (GO:0010927) 4.293WDR35, IFT122, WDR19
single-organism organelle organization (GO:1902589) 2.683WDR35, IFT122, WDR19
cellular component assembly (GO:0022607) 2.143WDR35, IFT122, WDR19
organelle assembly (GO:0070925) 3.753WDR35, IFT122, WDR19
cellular component morphogenesis (GO:0032989) 3.53IFT122, IFT43, WDR19
cell projection assembly (GO:0030031) 4.193WDR35, IFT122, WDR19
cilium organization (GO:0044782) 4.673WDR35, IFT122, WDR19
anatomical structure formation involved in morphogenesis (GO:0048646) 3.013WDR35, IFT122, WDR19
cell projection morphogenesis (GO:0048858) 4.053IFT122, IFT43, WDR19
limb morphogenesis (GO:0035108) 5.052IFT122, WDR19
embryonic limb morphogenesis (GO:0030326) 5.242IFT122, WDR19
appendage morphogenesis (GO:0035107) 5.052IFT122, WDR19
membrane organization (GO:0061024) 3.042IFT122, WDR19
protein localization to cilium (GO:0061512) 6.432WDR35, IFT122
signal transduction (GO:0007165) 1.282IFT122, WDR19
cell surface receptor signaling pathway (GO:0007166) 2.092IFT122, WDR19
multicellular organism development (GO:0007275) 2.542IFT122, WDR19
regulation of biological process (GO:0050789) 0.452IFT122, WDR19
biological regulation (GO:0065007) 0.392IFT122, WDR19
ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830) 8.632IFT122, WDR19
smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831) 7.782IFT122, WDR19
sensory organ morphogenesis (GO:0090596) 5.722IFT122, WDR19
embryonic morphogenesis (GO:0048598) 3.722IFT122, WDR19
organ morphogenesis (GO:0009887) 3.552IFT122, WDR19
multicellular organismal process (GO:0032501) 1.452IFT122, WDR19
regulation of cellular process (GO:0050794) 0.52IFT122, WDR19
single-organism membrane organization (GO:0044802) 3.192IFT122, WDR19
protein localization to membrane (GO:0072657) 3.952IFT122, WDR19
embryonic appendage morphogenesis (GO:0035113) 5.242IFT122, WDR19
localization within membrane (GO:0051668) 5.622IFT122, WDR19
single-multicellular organism process (GO:0044707) 1.782IFT122, WDR19
smoothened signaling pathway (GO:0007224) 5.452IFT122, WDR19
anatomical structure development (GO:0048856) 1.582IFT122, WDR19
protein localization to organelle (GO:0033365) 3.572WDR35, IFT122
receptor clustering (GO:0043113) 6.022IFT122, WDR19

NET-GE enrichment

Term New enriched termICP valueGenes
limb morphogenesis (GO:0035108) -5.050.022IFT122, WDR19
embryonic limb morphogenesis (GO:0030326) -5.240.016IFT122, WDR19
cell projection organization (GO:0030030) -3.140.016WDR35, IFT43, IFT122, WDR19
establishment of localization in cell (GO:0051649) -2.470.008WDR35, IFT43, IFT122, WDR19
appendage morphogenesis (GO:0035107) -5.050.022IFT122, WDR19
intraciliary transport (GO:0042073) -6.430.0WDR35, IFT43, IFT122, WDR19
cellular component movement (GO:0006928) -2.610.003WDR35, IFT43, IFT122, WDR19
single-organism cellular localization (GO:1902580) -3.160.029IFT122, WDR19
cytoskeleton-dependent intracellular transport (GO:0030705) -4.960.0WDR35, IFT43, IFT122, WDR19
smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831) -7.780.0IFT122, WDR19
ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830) -8.630.0IFT122, WDR19
intraciliary retrograde transport (GO:0035721) -7.530.0WDR35, IFT43, IFT122, WDR19
anatomical structure formation involved in morphogenesis (GO:0048646) -3.010.03WDR35, IFT122, WDR19
cilium assembly (GO:0042384) -4.770.034WDR35, WDR19
cilium morphogenesis (GO:0060271) -5.540.015IFT122, IFT43
microtubule-based transport (GO:0010970) -5.140.0WDR35, IFT43, IFT122, WDR19
protein localization to membrane (GO:0072657) -3.950.018IFT122, WDR19
embryonic appendage morphogenesis (GO:0035113) -5.240.016IFT122, WDR19
single-organism localization (GO:1902578) -2.090.029IFT122, WDR19
microtubule-based process (GO:0007017) -3.540.001WDR35, IFT43, IFT122, WDR19
intracellular transport (GO:0046907) -2.670.002WDR35, IFT43, IFT122, WDR19
smoothened signaling pathway (GO:0007224) -5.450.04IFT122, WDR19
microtubule-based movement (GO:0007018) -4.390.0WDR35, IFT43, IFT122, WDR19
single-organism intracellular transport (GO:1902582) -3.590.033WDR35, IFT43, IFT122, WDR19
receptor clustering (GO:0043113) -6.020.016IFT122, WDR19
cilium organization (GO:0044782) -4.670.036WDR35, WDR19
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.014WDR35, IFT43, IFT122, WDR19
cytoskeleton (GO:0005856) 2.554WDR35, IFT43, IFT122, WDR19
intraciliary transport particle A (GO:0030991) 7.724WDR35, IFT43, IFT122, WDR19
primary cilium (GO:0072372) 4.644WDR35, IFT43, IFT122, WDR19
macromolecular complex (GO:0032991) 1.354WDR35, IFT43, IFT122, WDR19
intracellular non-membrane-bounded organelle (GO:0043232) 1.764WDR35, IFT43, IFT122, WDR19
cell projection part (GO:0044463) 2.974WDR35, IFT43, IFT122, WDR19
cell part (GO:0044464) 0.114WDR35, IFT43, IFT122, WDR19
intracellular organelle part (GO:0044446) 0.814WDR35, IFT43, IFT122, WDR19
ciliary tip (GO:0097542) 6.044WDR35, IFT43, IFT122, WDR19
intracellular organelle (GO:0043229) 0.514WDR35, IFT43, IFT122, WDR19
non-membrane-bounded organelle (GO:0043228) 1.764WDR35, IFT43, IFT122, WDR19
cilium (GO:0005929) 3.894WDR35, IFT43, IFT122, WDR19
intracellular part (GO:0044424) 0.284WDR35, IFT43, IFT122, WDR19
protein complex (GO:0043234) 1.514WDR35, IFT43, IFT122, WDR19
cell projection (GO:0042995) 2.474WDR35, IFT43, IFT122, WDR19
organelle (GO:0043226) 0.44WDR35, IFT43, IFT122, WDR19
organelle part (GO:0044422) 0.794WDR35, IFT43, IFT122, WDR19
ciliary part (GO:0044441) 4.054WDR35, IFT43, IFT122, WDR19
cytoskeletal part (GO:0044430) 2.493WDR35, IFT43, IFT122
microtubule organizing center (GO:0005815) 3.423WDR35, IFT43, IFT122
ciliary basal body (GO:0036064) 5.362WDR35, IFT122
photoreceptor connecting cilium (GO:0032391) 6.282IFT122, WDR19
membrane (GO:0016020) 0.682IFT122, WDR19
plasma membrane (GO:0005886) 1.392IFT122, WDR19
nonmotile primary cilium (GO:0031513) 5.142IFT122, WDR19

NET-GE enrichment

Term New enriched termICP valueGenes
ciliary basal body (GO:0036064) -5.360.002WDR35, IFT122
photoreceptor connecting cilium (GO:0032391) -6.280.0IFT122, WDR19
primary cilium (GO:0072372) -4.640.043IFT122, WDR19
ciliary part (GO:0044441) -4.050.028WDR35, IFT122
intraciliary transport particle A (GO:0030991) -7.720.0WDR35, IFT43, IFT122, WDR19
nonmotile primary cilium (GO:0031513) -5.140.002IFT122, WDR19
cilium (GO:0005929) -3.890.028IFT122, WDR19
microtubule organizing center (GO:0005815) -3.420.045WDR35, IFT43, IFT122