Disease table of RITSCHER-SCHINZEL SYNDROME OMIM ID: PS220210

Gene-disease associations table

GeneAssociated with RITSCHER-SCHINZEL SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
CCDC22ClinVar, OMIM, HUMSAVARHGNC linkXp11.231PS220210
KIAA0196ClinVar, OMIMHGNC link8q24.132PS220210, PS303350

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
CCDC22KIAA0196No2FAM21C, CEP128

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

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 (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182CCDC22, KIAA0196
protein binding (GO:0005515) 0.462CCDC22, KIAA0196
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
protein localization (GO:0008104) 2.362CCDC22, KIAA0196
establishment of localization (GO:0051234) 1.482CCDC22, KIAA0196
transport (GO:0006810) 1.512CCDC22, KIAA0196
establishment of protein localization (GO:0045184) 2.532CCDC22, KIAA0196
single-organism cellular process (GO:0044763) 0.652CCDC22, KIAA0196
organic substance transport (GO:0071702) 2.152CCDC22, KIAA0196
protein transport (GO:0015031) 2.622CCDC22, KIAA0196
cellular process (GO:0009987) 0.262CCDC22, KIAA0196
macromolecule localization (GO:0033036) 2.342CCDC22, KIAA0196
localization (GO:0051179) 1.42CCDC22, KIAA0196
single-organism process (GO:0044699) 0.482CCDC22, KIAA0196
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.62CCDC22, KIAA0196
vacuole (GO:0005773) 2.922CCDC22, KIAA0196
membrane-bounded organelle (GO:0043227) 0.472CCDC22, KIAA0196
cell part (GO:0044464) 0.112CCDC22, KIAA0196
cytoplasmic part (GO:0044444) 0.822CCDC22, KIAA0196
intracellular organelle (GO:0043229) 0.512CCDC22, KIAA0196
intracellular part (GO:0044424) 0.282CCDC22, KIAA0196
endosome (GO:0005768) 3.252CCDC22, KIAA0196
organelle (GO:0043226) 0.42CCDC22, KIAA0196