Disease table of WEYERS ACROFACIAL DYSOSTOSIS OMIM ID: 193530

Gene-disease associations table

GeneAssociated with WEYERS ACROFACIAL DYSOSTOSIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
EVCClinVar, OMIM, HUMSAVARHGNC link4p16.22193530, PS208500
EVC2ClinVar, OMIMHGNC link4p16.22193530, PS208500

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
4p16.22EVC2, EVC
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
4p162EVC2, EVC
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
4p12EVC2, EVC
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
4p2EVC2, EVC
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
42EVC2, EVC
Transcription Factors (TF) annotation from TRRUST
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
EVCEVC2yes, 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 'on' stateR-HSA-56326846.622EVC, EVC2
Activation of SMOR-HSA-56358389.662EVC, EVC2
Signal TransductionR-HSA-1625821.782EVC, EVC2
Signaling by HedgehogR-HSA-53583515.792EVC, EVC2

NET-GE enrichment

Term New enriched termICP valueGenes
Hedgehog 'on' state (R-HSA-5632684) -6.620.0EVC, EVC2
Activation of SMO (R-HSA-5635838) -9.660.0EVC, EVC2
Signaling by Hedgehog (R-HSA-5358351) -5.790.002EVC, EVC2
GO - molecular function annotation: shared terms / NET-GE enrichment (no shared terms)
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
smoothened signaling pathway (GO:0007224) 5.452EVC, EVC2
regulation of cellular process (GO:0050794) 0.52EVC, EVC2
biological regulation (GO:0065007) 0.392EVC, EVC2
signal transduction (GO:0007165) 1.282EVC, EVC2
cell surface receptor signaling pathway (GO:0007166) 2.092EVC, EVC2
regulation of biological process (GO:0050789) 0.452EVC, EVC2

NET-GE enrichment

Term New enriched termICP valueGenes
smoothened signaling pathway (GO:0007224) -5.450.001EVC, EVC2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
plasma membrane region (GO:0098590) 2.972EVC, EVC2
ciliary membrane (GO:0060170) 5.432EVC, EVC2
intracellular organelle (GO:0043229) 0.512EVC, EVC2
non-membrane-bounded organelle (GO:0043228) 1.762EVC, EVC2
cilium (GO:0005929) 3.892EVC, EVC2
organelle (GO:0043226) 0.42EVC, EVC2
intrinsic component of membrane (GO:0031224) 1.132EVC, EVC2
cytoplasm (GO:0005737) 1.012EVC, EVC2
organelle membrane (GO:0031090) 1.972EVC, EVC2
integral component of membrane (GO:0016021) 1.142EVC, EVC2
membrane (GO:0016020) 0.682EVC, EVC2
plasma membrane part (GO:0044459) 1.952EVC, EVC2
cytoskeleton (GO:0005856) 2.552EVC, EVC2
bounding membrane of organelle (GO:0098588) 2.392EVC, EVC2
cell projection membrane (GO:0031253) 4.112EVC, EVC2
plasma membrane (GO:0005886) 1.392EVC, EVC2
cell projection (GO:0042995) 2.472EVC, EVC2
intracellular non-membrane-bounded organelle (GO:0043232) 1.762EVC, EVC2
cell projection part (GO:0044463) 2.972EVC, EVC2
cell part (GO:0044464) 0.112EVC, EVC2
ciliary part (GO:0044441) 4.052EVC, EVC2
intracellular part (GO:0044424) 0.282EVC, EVC2
membrane part (GO:0044425) 0.952EVC, EVC2
organelle part (GO:0044422) 0.792EVC, EVC2

NET-GE enrichment

Term New enriched termICP valueGenes
plasma membrane region (GO:0098590) -2.970.015EVC, EVC2
ciliary membrane (GO:0060170) -5.430.001EVC, EVC2
cell projection part (GO:0044463) -2.970.044EVC, EVC2
cell projection membrane (GO:0031253) -4.110.005EVC, EVC2
cilium (GO:0005929) -3.890.035EVC, EVC2
ciliary part (GO:0044441) -4.050.029EVC, EVC2