Gene-disease associations table

GeneAssociated with ASPLENIA, ISOLATED CONGENITAL inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
RPSAClinVar, OMIM, HUMSAVARHGNC link3p22.11271400
NKX2-5ClinVarHGNC link5q35.17217095, PS614429, PS241550, PS108800, PS275200, 187500, 271400

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
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 (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Gene ExpressionR-HSA-741602.722RPSA, NKX2-5
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
nucleic acid binding (GO:0003676) 1.442RPSA, NKX2-5
organic cyclic compound binding (GO:0097159) 1.052RPSA, NKX2-5
macromolecular complex binding (GO:0044877) 2.612RPSA, NKX2-5
binding (GO:0005488) 0.182RPSA, NKX2-5
protein binding (GO:0005515) 0.462RPSA, NKX2-5
heterocyclic compound binding (GO:1901363) 1.062RPSA, NKX2-5
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cellular component assembly (GO:0022607) 2.142RPSA, NKX2-5
RNA biosynthetic process (GO:0032774) 1.842RPSA, NKX2-5
cell differentiation (GO:0030154) 2.142RPSA, NKX2-5
nucleic acid metabolic process (GO:0090304) 1.462RPSA, NKX2-5
cellular biosynthetic process (GO:0044249) 1.372RPSA, NKX2-5
cellular nitrogen compound metabolic process (GO:0034641) 1.222RPSA, NKX2-5
nitrogen compound metabolic process (GO:0006807) 1.132RPSA, NKX2-5
cellular macromolecule biosynthetic process (GO:0034645) 1.662RPSA, NKX2-5
organic cyclic compound biosynthetic process (GO:1901362) 1.662RPSA, NKX2-5
organic cyclic compound metabolic process (GO:1901360) 1.262RPSA, NKX2-5
nucleobase-containing compound metabolic process (GO:0006139) 1.352RPSA, NKX2-5
cellular macromolecule metabolic process (GO:0044260) 0.932RPSA, NKX2-5
cellular developmental process (GO:0048869) 1.822RPSA, NKX2-5
cellular component organization or biogenesis (GO:0071840) 1.222RPSA, NKX2-5
cellular component organization (GO:0016043) 1.242RPSA, NKX2-5
organic substance metabolic process (GO:0071704) 0.632RPSA, NKX2-5
single-organism process (GO:0044699) 0.482RPSA, NKX2-5
heterocycle biosynthetic process (GO:0018130) 1.72RPSA, NKX2-5
organic substance biosynthetic process (GO:1901576) 1.342RPSA, NKX2-5
cellular process (GO:0009987) 0.262RPSA, NKX2-5
cellular aromatic compound metabolic process (GO:0006725) 1.32RPSA, NKX2-5
biosynthetic process (GO:0009058) 1.322RPSA, NKX2-5
macromolecule biosynthetic process (GO:0009059) 1.612RPSA, NKX2-5
single-organism cellular process (GO:0044763) 0.652RPSA, NKX2-5
metabolic process (GO:0008152) 0.582RPSA, NKX2-5
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722RPSA, NKX2-5
heterocycle metabolic process (GO:0046483) 1.312RPSA, NKX2-5
RNA metabolic process (GO:0016070) 1.592RPSA, NKX2-5
primary metabolic process (GO:0044238) 0.692RPSA, NKX2-5
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592RPSA, NKX2-5
cellular metabolic process (GO:0044237) 0.692RPSA, NKX2-5
macromolecule metabolic process (GO:0043170) 0.832RPSA, NKX2-5
aromatic compound biosynthetic process (GO:0019438) 1.72RPSA, NKX2-5
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012RPSA, NKX2-5
macromolecular complex (GO:0032991) 1.352RPSA, NKX2-5
intracellular membrane-bounded organelle (GO:0043231) 0.62RPSA, NKX2-5
nucleus (GO:0005634) 1.072RPSA, NKX2-5
cell part (GO:0044464) 0.112RPSA, NKX2-5
intracellular organelle part (GO:0044446) 0.812RPSA, NKX2-5
intracellular organelle (GO:0043229) 0.512RPSA, NKX2-5
nuclear part (GO:0044428) 1.552RPSA, NKX2-5
intracellular part (GO:0044424) 0.282RPSA, NKX2-5
membrane-bounded organelle (GO:0043227) 0.472RPSA, NKX2-5
organelle (GO:0043226) 0.42RPSA, NKX2-5
organelle part (GO:0044422) 0.792RPSA, NKX2-5