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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: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,500,781...166,515,477
Ensembl chr 5:166,500,781...166,515,481
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19631309 More... NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:28492532 NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
JBrowse link
G Klhl17 kelch-like family member 17 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:28492532 NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,648,494...166,648,582 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
JBrowse link
G Noc2l NOC2-like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:28492532 NCBI chr 5:166,820,075...166,831,951
Ensembl chr 5:166,820,161...166,831,949
JBrowse link
G Plekhn1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:28492532 NCBI chr 5:166,805,309...166,813,339
Ensembl chr 5:166,804,837...166,813,155
JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,496,755...166,500,611
Ensembl chr 5:166,496,755...166,500,611
JBrowse link
G RGD1311517 similar to RIKEN cDNA 9430015G10 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,720,408...166,726,236
Ensembl chr 5:166,724,984...166,725,751
JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:28492532 NCBI chr 5:166,831,663...166,859,805
Ensembl chr 5:166,831,663...166,850,009
JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,469,589...166,472,742
Ensembl chr 5:166,469,589...166,472,742
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,048,667...166,050,423
Ensembl chr 5:166,046,565...166,050,433
JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
JBrowse link

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Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital myasthenic syndrome 134
        congenital myasthenic syndrome 8 46
Path 2
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  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        peripheral nervous system disease 2974
          neuropathy 2766
            neuromuscular disease 2185
              neuromuscular junction disease 162
                congenital myasthenic syndrome 134
                  congenital myasthenic syndrome 8 46
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