Gene table of SMN1 : survival of motor neuron 1, telomeric

Gene-disease associations table

Disease IDDisease nameSource of annotation with SMN1OMIM linkNumber of associated genesgenes
253550SPINAL MUSCULAR ATROPHY, TYPE IIClinVar, OMIM, HUMSAVAR link to OMIM 1SMN1
253300SPINAL MUSCULAR ATROPHY, TYPE IClinVar, OMIM, HUMSAVAR link to OMIM 2IGHMBP2, SMN1
253400SPINAL MUSCULAR ATROPHY, TYPE IIIClinVar, OMIM, HUMSAVAR link to OMIM 2SMN2, SMN1
271150SPINAL MUSCULAR ATROPHY, TYPE IVOMIM link to OMIM 1SMN1

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Annotation of the gene SMN1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation

The gene is in the tandem Group 245, together with the genes:

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
RNA transporthsa030135.37
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
snRNP AssemblyR-HSA-1918598.52
Gene ExpressionR-HSA-741602.72
Metabolism of non-coding RNAR-HSA-1944418.52
Associated GO terms for Molecular function
GO termGO IDGO IC
nucleic acid bindingGO:00036761.44
organic cyclic compound bindingGO:00971591.05
bindingGO:00054880.18
protein bindingGO:00055150.46
heterocyclic compound bindingGO:19013631.06
identical protein bindingGO:00428022.63
RNA bindingGO:00037232.36