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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:congenital myasthenic syndrome 8
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Accession:DOID:0110657 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. (DO)
Synonyms:exact_synonym: CMS8;   CMSPPD;   congenital myasthenic syndrome 8 with pre- and postsynaptic defects;   congenital myasthenic syndrome due to agrin deficiency;   congenital myasthenic syndrome, with pre- and postsynaptic defects
 primary_id: OMIM:615120
 alt_id: RDO:9000868;   RDO:9003080
For additional species annotation, visit the Alliance of Genome Resources.

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congenital myasthenic syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,340,060...173,354,756
Ensembl chr 5:173,340,060...173,354,755 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar
OMIM		 PMID:18414213 PMID:19631309 PMID:22205389 PMID:24951643 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30994901 NCBI chr 5:173,589,910...173,622,813
Ensembl chr 5:173,589,819...173,622,645 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,237,642...173,239,899
Ensembl chr 5:173,237,642...173,239,899 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768 		JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,274,433...173,276,170
Ensembl chr 5:173,256,637...173,276,169 		JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,390,901...173,395,276
Ensembl chr 5:173,390,901...173,395,276 		JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,256,301...173,268,279
Ensembl chr 5:173,256,637...173,276,169 		JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,051,900...173,078,049
Ensembl chr 5:173,052,063...173,078,046 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:172,817,221...172,884,996
Ensembl chr 5:172,825,072...172,858,053 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,314,219...173,318,384
Ensembl chr 5:173,314,228...173,318,313 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:172,648,171...172,655,576
Ensembl chr 5:172,648,950...172,655,576 		JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,139,345...173,141,564 JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,318,435...173,336,930
Ensembl chr 5:173,318,479...173,336,930 		JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,082,943...173,099,353
Ensembl chr 5:173,082,943...173,098,816 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,489,366...173,489,454 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,490,144...173,490,238
Ensembl chr 5:173,490,144...173,490,238 		JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,488,331...173,488,415
Ensembl chr 5:173,488,331...173,488,415 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,078,811...173,082,834
Ensembl chr 5:173,078,590...173,081,839 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,248,245...173,252,775
Ensembl chr 5:173,248,245...173,252,775 		JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,288,200...173,292,926
Ensembl chr 5:173,288,447...173,292,929 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:172,984,930...173,015,505
Ensembl chr 5:172,986,291...173,015,494 		JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:172,658,071...172,769,492
Ensembl chr 5:172,658,748...172,769,421 		JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,326,755...173,339,934
Ensembl chr 5:173,336,034...173,340,026 		JBrowse link
G RGD1311517 similar to RIKEN cDNA 9430015G10 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,542,058...173,559,761
Ensembl chr 5:173,542,358...173,559,761 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,561,016...173,566,844 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,425,922...173,444,478
Ensembl chr 5:173,425,907...173,444,620 		JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899 		JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,024,335...173,050,228
Ensembl chr 5:173,024,335...173,046,194 		JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,152,964...173,182,720
Ensembl chr 5:173,152,964...173,182,719 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,307,325...173,312,950
Ensembl chr 5:173,308,870...173,312,023 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,182,815...173,189,683
Ensembl chr 5:173,183,990...173,188,924 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:172,887,587...172,889,349
Ensembl chr 5:172,887,217...172,889,383 		JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,230,364...173,233,188
Ensembl chr 5:173,230,364...173,233,188 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,471,020...173,517,783
Ensembl chr 5:173,471,010...173,484,986 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,372,659...173,387,084
Ensembl chr 5:173,372,669...173,387,104 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:173,216,737...173,221,923
Ensembl chr 5:173,216,741...173,222,440 		JBrowse link
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Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      congenital myasthenic syndrome 88
        congenital myasthenic syndrome 8 42
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Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              neuromuscular junction disease 115
                congenital myasthenic syndrome 88
                  congenital myasthenic syndrome 8 42
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