Disease table of SPINAL MUSCULAR ATROPHY, TYPE I OMIM ID: 253300

Gene-disease associations table

GeneAssociated with SPINAL MUSCULAR ATROPHY, TYPE I inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SMN1ClinVar, OMIM, HUMSAVARHGNC link5q13.24253550, 253400, 271150, 253300
IGHMBP2ClinVarHGNC link11q13.33253300, 604320, PS118220

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
SMN1YES2JUN, SRF0
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
nucleic acid binding (GO:0003676) 1.442SMN1, IGHMBP2
organic cyclic compound binding (GO:0097159) 1.052SMN1, IGHMBP2
RNA binding (GO:0003723) 2.362SMN1, IGHMBP2
protein binding (GO:0005515) 0.462SMN1, IGHMBP2
heterocyclic compound binding (GO:1901363) 1.062SMN1, IGHMBP2
binding (GO:0005488) 0.182SMN1, IGHMBP2
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cellular component assembly (GO:0022607) 2.142SMN1, IGHMBP2
RNA biosynthetic process (GO:0032774) 1.842SMN1, IGHMBP2
macromolecular complex subunit organization (GO:0043933) 2.142SMN1, IGHMBP2
nucleic acid metabolic process (GO:0090304) 1.462SMN1, IGHMBP2
cellular biosynthetic process (GO:0044249) 1.372SMN1, IGHMBP2
cellular nitrogen compound metabolic process (GO:0034641) 1.222SMN1, IGHMBP2
nitrogen compound metabolic process (GO:0006807) 1.132SMN1, IGHMBP2
organic cyclic compound biosynthetic process (GO:1901362) 1.662SMN1, IGHMBP2
cellular component organization or biogenesis (GO:0071840) 1.222SMN1, IGHMBP2
organic substance biosynthetic process (GO:1901576) 1.342SMN1, IGHMBP2
cellular macromolecule metabolic process (GO:0044260) 0.932SMN1, IGHMBP2
cellular component organization (GO:0016043) 1.242SMN1, IGHMBP2
macromolecular complex assembly (GO:0065003) 2.552SMN1, IGHMBP2
organic substance metabolic process (GO:0071704) 0.632SMN1, IGHMBP2
organic cyclic compound metabolic process (GO:1901360) 1.262SMN1, IGHMBP2
heterocycle biosynthetic process (GO:0018130) 1.72SMN1, IGHMBP2
nucleobase-containing compound metabolic process (GO:0006139) 1.352SMN1, IGHMBP2
cellular process (GO:0009987) 0.262SMN1, IGHMBP2
cellular aromatic compound metabolic process (GO:0006725) 1.32SMN1, IGHMBP2
biosynthetic process (GO:0009058) 1.322SMN1, IGHMBP2
macromolecule biosynthetic process (GO:0009059) 1.612SMN1, IGHMBP2
metabolic process (GO:0008152) 0.582SMN1, IGHMBP2
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722SMN1, IGHMBP2
heterocycle metabolic process (GO:0046483) 1.312SMN1, IGHMBP2
RNA metabolic process (GO:0016070) 1.592SMN1, IGHMBP2
primary metabolic process (GO:0044238) 0.692SMN1, IGHMBP2
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592SMN1, IGHMBP2
cellular metabolic process (GO:0044237) 0.692SMN1, IGHMBP2
macromolecule metabolic process (GO:0043170) 0.832SMN1, IGHMBP2
aromatic compound biosynthetic process (GO:0019438) 1.72SMN1, IGHMBP2
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012SMN1, IGHMBP2
protein complex (GO:0043234) 1.512SMN1, IGHMBP2
macromolecular complex (GO:0032991) 1.352SMN1, IGHMBP2
intracellular membrane-bounded organelle (GO:0043231) 0.62SMN1, IGHMBP2
SMN complex (GO:0032797) 7.322SMN1, IGHMBP2
cell part (GO:0044464) 0.112SMN1, IGHMBP2
nucleus (GO:0005634) 1.072SMN1, IGHMBP2
ribonucleoprotein complex (GO:1990904) 3.192SMN1, IGHMBP2
intracellular ribonucleoprotein complex (GO:0030529) 3.192SMN1, IGHMBP2
neuron part (GO:0097458) 2.642SMN1, IGHMBP2
intracellular organelle (GO:0043229) 0.512SMN1, IGHMBP2
neuron projection (GO:0043005) 3.122SMN1, IGHMBP2
intracellular part (GO:0044424) 0.282SMN1, IGHMBP2
cell projection (GO:0042995) 2.472SMN1, IGHMBP2
membrane-bounded organelle (GO:0043227) 0.472SMN1, IGHMBP2
organelle (GO:0043226) 0.42SMN1, IGHMBP2