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ONTOLOGY REPORT - ANNOTATIONS


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
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congenital myasthenic syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 JBrowse link 5 56,466,833 56,482,023 RGD:9068941
G AGRN agrin JBrowse link 5 56,239,621 56,273,679 RGD:7240710
RGD:9068941
G B3GALT6 beta-1,3-galactosyltransferase 6 JBrowse link 5 56,421,687 56,423,120 RGD:9068941
G C1QTNF12 C1q and TNF related 12 JBrowse link 5 56,433,555 56,438,419 RGD:9068941
G C5H1orf159 chromosome 5 C1orf159 homolog JBrowse link 5 56,296,633 56,330,358 RGD:9068941
G INTS11 integrator complex subunit 11 JBrowse link 5 56,485,690 56,498,074 RGD:9068941
G MIR200A microRNA mir-200a JBrowse link 5 56,369,063 56,369,152 RGD:9068941
G MIR200B microRNA mir-200b JBrowse link 5 56,368,400 56,368,479 RGD:9068941
G PUSL1 pseudouridine synthase like 1 JBrowse link 5 56,482,802 56,485,778 RGD:9068941
G RNF223 ring finger protein 223 JBrowse link 5 56,290,548 56,293,473 RGD:9068941
G SCNN1D sodium channel epithelial 1 delta subunit JBrowse link 5 56,455,677 56,466,035 RGD:9068941
G SDF4 stromal cell derived factor 4 JBrowse link 5 56,407,506 56,421,515 RGD:9068941
G TNFRSF18 TNF receptor superfamily member 18 JBrowse link 5 56,394,559 56,397,502 RGD:9068941
G TNFRSF4 TNF receptor superfamily member 4 JBrowse link 5 56,401,410 56,404,410 RGD:9068941
G TTLL10 tubulin tyrosine ligase like 10 JBrowse link 5 56,364,247 56,390,899 RGD:9068941
G UBE2J2 ubiquitin conjugating enzyme E2 J2 JBrowse link 5 56,440,394 56,455,491 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12222
    Developmental Diseases 8522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7364
        genetic disease 6880
          congenital myasthenic syndrome 58
            congenital myasthenic syndrome 8 16
Path 2
Term Annotations click to browse term
  disease 12222
    disease of anatomical entity 11877
      nervous system disease 9577
        peripheral nervous system disease 2108
          neuropathy 1950
            neuromuscular disease 1533
              neuromuscular junction disease 81
                congenital myasthenic syndrome 58
                  congenital myasthenic syndrome 8 16
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.