Disease table of SPINAL MUSCULAR ATROPHY, TYPE III OMIM ID: 253400

Gene-disease associations table

GeneAssociated with SPINAL MUSCULAR ATROPHY, TYPE III inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SMN2OMIMHGNC link5q13.21253400
SMN1ClinVar, OMIM, HUMSAVARHGNC link5q13.24253550, 253400, 271150, 253300

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Common tandem groupNumber of genes in this tandem group associated to this diseaseGenes in this tandem group associated to this disease
Group 2452SMN2, SMN1
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
5q13.22SMN2, SMN1
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
5q132SMN2, SMN1
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
5q12SMN2, SMN1
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
5q2SMN2, SMN1
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
52SMN2, SMN1
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
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
SMN2SMN1Yes22SMN1, SNRPF, SNRPD2, VPR, SNRPD1, SNW1, CDC5L, SNRPE, SMN2, VPS28, PPIG, SRSF5, SNRPG, SNRPD3, SNRPB, XPO1, COIL, HNRNPUL1, DDX20, RBM25, CUL3, RPS2

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
SMN2SMN1Yesbinding19GEMIN5, GEMIN2, STAT5A, DDX20, ZNF259, SNRPD3, STRAP, GEMIN4, SNRPB, SNRPD1, SNRPD2, SNRPE, GEMIN8, STAT5B, RBMX, GEMIN7, SNRPG, GEMIN6, SNRPF

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Gene1Gene2Direct InteractionComplexesNumber of shared interactorsShared genes in interaction
SMN2SMN1No-21SNRPF, GEMIN2, DDX20, GEMIN5, SNRPD3, STRAP, SNRPD1, LGALS3, PRMT5, TIMM50, SNRPD2, SNRPE, CLNS1A, GEMIN8, SNRPB, GEMIN7, LGALS1, SNRPG, GEMIN6, SNRPA, GEMIN4

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CENSUS
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
SMN2SMN1No4RBM25, SRSF5, DDX20, COIL

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from PDB
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
SMN2SMN1Yes4SMN1, SNRPE, SMN2, SMN1; SMN2

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from manually curated literature
KEGG pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
RNA transporthsa030135.372SMN1, SMN2
REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Gene ExpressionR-HSA-741602.722SMN1, SMN2
Metabolism of non-coding RNAR-HSA-1944418.522SMN1, SMN2
snRNP AssemblyR-HSA-1918598.522SMN1, SMN2
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182SMN1, SMN2
organic cyclic compound binding (GO:0097159) 1.052SMN1, SMN2
RNA binding (GO:0003723) 2.362SMN1, SMN2
nucleic acid binding (GO:0003676) 1.442SMN1, SMN2
heterocyclic compound binding (GO:1901363) 1.062SMN1, SMN2
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
RNA metabolic process (GO:0016070) 1.592SMN1, SMN2
nucleobase-containing compound metabolic process (GO:0006139) 1.352SMN1, SMN2
cellular macromolecule metabolic process (GO:0044260) 0.932SMN1, SMN2
primary metabolic process (GO:0044238) 0.692SMN1, SMN2
cellular process (GO:0009987) 0.262SMN1, SMN2
cellular aromatic compound metabolic process (GO:0006725) 1.32SMN1, SMN2
cellular metabolic process (GO:0044237) 0.692SMN1, SMN2
macromolecule metabolic process (GO:0043170) 0.832SMN1, SMN2
nucleic acid metabolic process (GO:0090304) 1.462SMN1, SMN2
organic substance metabolic process (GO:0071704) 0.632SMN1, SMN2
cellular nitrogen compound metabolic process (GO:0034641) 1.222SMN1, SMN2
nitrogen compound metabolic process (GO:0006807) 1.132SMN1, SMN2
RNA processing (GO:0006396) 3.012SMN1, SMN2
metabolic process (GO:0008152) 0.582SMN1, SMN2
mRNA metabolic process (GO:0016071) 3.332SMN1, SMN2
mRNA processing (GO:0006397) 3.692SMN1, SMN2
organic cyclic compound metabolic process (GO:1901360) 1.262SMN1, SMN2
heterocycle metabolic process (GO:0046483) 1.312SMN1, SMN2
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012SMN1, SMN2
intracellular membrane-bounded organelle (GO:0043231) 0.62SMN1, SMN2
nucleus (GO:0005634) 1.072SMN1, SMN2
cell part (GO:0044464) 0.112SMN1, SMN2
intracellular organelle (GO:0043229) 0.512SMN1, SMN2
intracellular part (GO:0044424) 0.282SMN1, SMN2
membrane-bounded organelle (GO:0043227) 0.472SMN1, SMN2
organelle (GO:0043226) 0.42SMN1, SMN2