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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:spinal muscular atrophy with predominant lower extremity 2A
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Accession:DOID:0070349 term browser browse the term
Definition:A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: GOWER'S MUSCULAR DYSTROPHY;   SMALED2A;   spinal muscular atrophy, lower extremity-predominant, 2A, AD;   spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant;   spinal muscular atrophy, lower extremity-predominant, 2A, childhood onset, autosomal dominant
 broad_synonym: spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant
 primary_id: OMIM:615290
 xref: NCI:C191766

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spinal muscular atrophy with predominant lower extremity 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspn asporin ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004936487:2,080,014...2,104,534
Ensembl chrNW_004936487:2,079,973...2,104,499 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant OMIM
ClinVar		 PMID:7887410 PMID:8114789 PMID:8981948 PMID:9536098 PMID:9713859 More... NCBI chrNW_004936487:2,287,736...2,335,674
Ensembl chrNW_004936487:2,255,882...2,335,731 		JBrowse link
G Cenpp centromere protein P ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004936487:1,977,595...2,199,276
Ensembl chrNW_004936487:1,977,341...2,199,216 		JBrowse link
G Ecm2 extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004936487:2,117,226...2,150,382
Ensembl chrNW_004936487:2,116,604...2,150,398 		JBrowse link
G Iars1 isoleucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004936487:1,889,428...1,948,447
Ensembl chrNW_004936487:1,886,552...1,948,498 		JBrowse link
G Ippk inositol-pentakisphosphate 2-kinase ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004936487:2,200,588...2,254,130
Ensembl chrNW_004936487:2,198,973...2,254,151 		JBrowse link
G Nol8 nucleolar protein 8 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004936487:1,950,878...1,977,230
Ensembl chrNW_004936487:1,950,125...1,977,319 		JBrowse link
G Ogn osteoglycin ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004936487:2,029,755...2,043,242
Ensembl chrNW_004936487:2,028,948...2,044,387 		JBrowse link
G Omd osteomodulin ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004936487:2,054,109...2,056,871
Ensembl chrNW_004936487:2,053,879...2,063,011 		JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004936796:886,946...948,254
Ensembl chrNW_004936796:886,922...948,254 		JBrowse link
G Tia1 TIA1 cytotoxic granule associated RNA binding protein ISO ClinVar Annotator: match by term: Gower's muscular dystrophy ClinVar PMID:25741868 PMID:26467025 PMID:26627873 PMID:28492532 PMID:28817800 More... NCBI chrNW_004936491:14,381,107...14,411,931
Ensembl chrNW_004936491:14,380,195...14,411,868 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          Nervous System Heredodegenerative Disorders 3073
            spinal muscular atrophy with predominant lower extremity 12
              spinal muscular atrophy with predominant lower extremity 2A 11
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14121
      nervous system disease 12346
        peripheral nervous system disease 3889
          neuropathy 3707
            neuromuscular disease 2903
              motor neuron disease 495
                spinal muscular atrophy 146
                  spinal muscular atrophy with predominant lower extremity 12
                    spinal muscular atrophy with predominant lower extremity 2A 11
paths to the root