Gene-disease associations table

GeneAssociated with OCULOECTODERMAL SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
CLUAP1ClinVarHGNC link16p13.31600268
NLRP5ClinVarHGNC link19q13.431600268
KRASClinVarHGNC link12p12.114601626, 600268, 137215, 109800, PS163950, 211980, 114480, PS115150, 613659, 163200, 607785, 614470, 162900, 260350

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction

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) 0.183CLUAP1, NLRP5, KRAS
purine ribonucleoside triphosphate binding (GO:0035639) 2.222NLRP5, KRAS
organic cyclic compound binding (GO:0097159) 1.052NLRP5, KRAS
nucleotide binding (GO:0000166) 1.962NLRP5, KRAS
small molecule binding (GO:0036094) 1.892NLRP5, KRAS
carbohydrate derivative binding (GO:0097367) 2.032NLRP5, KRAS
purine ribonucleoside binding (GO:0032550) 2.222NLRP5, KRAS
ribonucleotide binding (GO:0032553) 2.192NLRP5, KRAS
nucleoside phosphate binding (GO:1901265) 1.962NLRP5, KRAS
protein binding (GO:0005515) 0.462CLUAP1, KRAS
ribonucleoside binding (GO:0032549) 2.222NLRP5, KRAS
purine ribonucleotide binding (GO:0032555) 2.22NLRP5, KRAS
purine nucleotide binding (GO:0017076) 2.192NLRP5, KRAS
heterocyclic compound binding (GO:1901363) 1.062NLRP5, KRAS
purine nucleoside binding (GO:0001883) 2.222NLRP5, KRAS
nucleoside binding (GO:0001882) 2.212NLRP5, KRAS
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.363CLUAP1, NLRP5, KRAS
cellular process (GO:0009987) 0.263NLRP5, CLUAP1, KRAS
cellular component organization (GO:0016043) 1.243NLRP5, CLUAP1, KRAS
single-organism developmental process (GO:0044767) 1.493NLRP5, CLUAP1, KRAS
single-organism cellular process (GO:0044763) 0.653CLUAP1, NLRP5, KRAS
cellular component organization or biogenesis (GO:0071840) 1.223CLUAP1, NLRP5, KRAS
single-organism process (GO:0044699) 0.483NLRP5, CLUAP1, KRAS
organelle organization (GO:0006996) 2.022CLUAP1, KRAS
cellular component assembly (GO:0022607) 2.142NLRP5, CLUAP1
regulation of metabolic process (GO:0019222) 1.022NLRP5, KRAS
single-multicellular organism process (GO:0044707) 1.782NLRP5, KRAS
regulation of macromolecule metabolic process (GO:0060255) 1.082NLRP5, KRAS
regulation of protein stability (GO:0031647) 4.332NLRP5, KRAS
single-organism organelle organization (GO:1902589) 2.682CLUAP1, KRAS
regulation of gene expression (GO:0010468) 1.372NLRP5, KRAS
regulation of biological quality (GO:0065008) 1.682NLRP5, KRAS
multicellular organismal process (GO:0032501) 1.452NLRP5, KRAS
biological regulation (GO:0065007) 0.392NLRP5, KRAS
anatomical structure morphogenesis (GO:0009653) 2.532NLRP5, KRAS
regulation of biological process (GO:0050789) 0.452NLRP5, KRAS
anatomical structure development (GO:0048856) 1.582NLRP5, KRAS
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) 0.63NLRP5, CLUAP1, KRAS
cell part (GO:0044464) 0.113CLUAP1, NLRP5, KRAS
intracellular organelle (GO:0043229) 0.513CLUAP1, NLRP5, KRAS
intracellular part (GO:0044424) 0.283NLRP5, CLUAP1, KRAS
membrane-bounded organelle (GO:0043227) 0.473NLRP5, CLUAP1, KRAS
organelle (GO:0043226) 0.43NLRP5, CLUAP1, KRAS
cytoplasm (GO:0005737) 1.012NLRP5, KRAS
protein complex (GO:0043234) 1.512NLRP5, CLUAP1
macromolecular complex (GO:0032991) 1.352NLRP5, CLUAP1
intracellular non-membrane-bounded organelle (GO:0043232) 1.762NLRP5, CLUAP1
nucleus (GO:0005634) 1.072CLUAP1, NLRP5
mitochondrion (GO:0005739) 2.422NLRP5, KRAS
intracellular organelle part (GO:0044446) 0.812CLUAP1, NLRP5
cytoplasmic part (GO:0044444) 0.822NLRP5, KRAS
non-membrane-bounded organelle (GO:0043228) 1.762CLUAP1, NLRP5
nuclear part (GO:0044428) 1.552NLRP5, CLUAP1
cytosol (GO:0005829) 1.682NLRP5, KRAS
organelle part (GO:0044422) 0.792CLUAP1, NLRP5