Disease table of COSTELLO SYNDROME OMIM ID: 218040
Gene-disease associations table
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Gene Associated with COSTELLO SYNDROME in Link to HGNC Cytogenetic band Number of associated diseases Associated diseases HRAS ClinVar, OMIM, HUMSAVAR HGNC link 11p15.5 6 218040 , 137550 , 185500 , 109800 , 163200 , 162900 TNNT2 ClinVar HGNC link 1q32.1 5 PS192600 , PS604169 , 218040 , PS115200 , PS115210
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Relations among genes:
Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
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: NET-GE enrichment (no shared terms)
NET-GE enrichment
GO - molecular function annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment
GO - biological process annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment
GO - cellular component annotation: shared terms (no NET-GE enrichment)
Shared terms