Disease table of CARPENTER SYNDROME OMIM ID: PS201000

Gene-disease associations table

GeneAssociated with CARPENTER SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
MEGF8ClinVar, OMIM, HUMSAVARHGNC link19q13.21PS201000
RAB23ClinVar, OMIM, HUMSAVARHGNC link6p11.21PS201000

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
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) 0.182MEGF8, RAB23
protein binding (GO:0005515) 0.462MEGF8, RAB23
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.362MEGF8, RAB23
multicellular organismal process (GO:0032501) 1.452MEGF8, RAB23
single-multicellular organism process (GO:0044707) 1.782MEGF8, RAB23
cellular process (GO:0009987) 0.262MEGF8, RAB23
craniofacial suture morphogenesis (GO:0097094) 7.092MEGF8, RAB23
regulation of cellular process (GO:0050794) 0.52MEGF8, RAB23
single-organism developmental process (GO:0044767) 1.492MEGF8, RAB23
biological regulation (GO:0065007) 0.392MEGF8, RAB23
signal transduction (GO:0007165) 1.282MEGF8, RAB23
single-organism cellular process (GO:0044763) 0.652MEGF8, RAB23
regulation of localization (GO:0032879) 1.942MEGF8, RAB23
anatomical structure morphogenesis (GO:0009653) 2.532MEGF8, RAB23
regulation of biological process (GO:0050789) 0.452MEGF8, RAB23
single-organism process (GO:0044699) 0.482MEGF8, RAB23
anatomical structure development (GO:0048856) 1.582MEGF8, RAB23

NET-GE enrichment

Term New enriched termICP valueGenes
regionalization (GO:0003002) NEW4.240.044MEGF8, RAB23
craniofacial suture morphogenesis (GO:0097094) -7.090.001MEGF8, RAB23
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) 0.62MEGF8, RAB23
extracellular vesicle (GO:1903561) 1.892MEGF8, RAB23
extracellular organelle (GO:0043230) 1.892MEGF8, RAB23
vesicle (GO:0031982) 1.642MEGF8, RAB23
membrane (GO:0016020) 0.682MEGF8, RAB23
cell part (GO:0044464) 0.112MEGF8, RAB23
extracellular region part (GO:0044421) 1.572MEGF8, RAB23
intracellular organelle (GO:0043229) 0.512MEGF8, RAB23
intracellular part (GO:0044424) 0.282MEGF8, RAB23
membrane-bounded vesicle (GO:0031988) 1.712MEGF8, RAB23
membrane-bounded organelle (GO:0043227) 0.472MEGF8, RAB23
organelle (GO:0043226) 0.42MEGF8, RAB23
extracellular exosome (GO:0070062) 1.892MEGF8, RAB23