Disease table of COLE-CARPENTER SYNDROME OMIM ID: PS112240

Gene-disease associations table

GeneAssociated with COLE-CARPENTER SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SEC24DClinVar, OMIM, HUMSAVARHGNC link4q261PS112240
P4HBClinVar, OMIM, HUMSAVARHGNC link17q25.31PS112240

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
SEC24DP4HBNo2NTRK1, EWSR1

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

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Protein processing in endoplasmic reticulumhsa041415.352P4HB, SEC24D

NET-GE enrichment

Term New enriched termICP valueGenes
Protein processing in endoplasmic reticulum (hsa04141) -5.350.002P4HB, SEC24D
Folding, sorting and degradationNEW3.860.019P4HB, SEC24D
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Metabolism of lipids and lipoproteinsR-HSA-5568333.792P4HB, SEC24D
MetabolismR-HSA-14307282.342P4HB, SEC24D

NET-GE enrichment

Term New enriched termICP valueGenes
Asparagine N-linked glycosylation (R-HSA-446203) NEW6.10.018P4HB, SEC24D
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182P4HB, SEC24D
protein binding (GO:0005515) 0.462P4HB, SEC24D
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.262P4HB, SEC24D
single-organism process (GO:0044699) 0.482P4HB, SEC24D

NET-GE enrichment

Term New enriched termICP valueGenes
peptidyl-asparagine modification (GO:0018196) NEW6.070.018P4HB, SEC24D
protein N-linked glycosylation via asparagine (GO:0018279) NEW6.090.018P4HB, SEC24D
protein N-linked glycosylation (GO:0006487) NEW5.650.023P4HB, SEC24D
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.512P4HB, SEC24D
macromolecular complex (GO:0032991) 1.352P4HB, SEC24D
endoplasmic reticulum (GO:0005783) 2.562P4HB, SEC24D
membrane (GO:0016020) 0.682P4HB, SEC24D
cell part (GO:0044464) 0.112P4HB, SEC24D
cytoplasmic part (GO:0044444) 0.822P4HB, SEC24D
intracellular organelle part (GO:0044446) 0.812P4HB, SEC24D
endoplasmic reticulum part (GO:0044432) 2.732P4HB, SEC24D
intracellular organelle (GO:0043229) 0.512P4HB, SEC24D
intracellular part (GO:0044424) 0.282P4HB, SEC24D
membrane part (GO:0044425) 0.952P4HB, SEC24D
membrane-bounded organelle (GO:0043227) 0.472P4HB, SEC24D
organelle (GO:0043226) 0.42P4HB, SEC24D
organelle part (GO:0044422) 0.792P4HB, SEC24D
intracellular membrane-bounded organelle (GO:0043231) 0.62P4HB, SEC24D