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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 14
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Accession:DOID:0110669 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: CMS14;   CMSTA3;   congenital myasthenic syndrome 14, with tubular aggregates;   congenital myasthenic syndrome with tubular aggregates 3
 xref: MIM:616228;   MONDO:0014543


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congenital myasthenic syndrome 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 14 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates OMIM
ClinVar		 PMID:12684507 PMID:20813212 PMID:23404334 PMID:25741868 PMID:28492532 More... NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:66,564,330...66,568,887 		JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:66,104,770...66,146,186
Ensembl chr 5:66,104,773...66,146,186 		JBrowse link
G Anp32b acidic nuclear phosphoprotein 32 family member B ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:65,538,872...65,561,305
Ensembl chr 5:65,538,535...65,561,437 		JBrowse link
G Col15a1 collagen type XV alpha 1 chain ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:66,297,546...66,403,172
Ensembl chr 5:66,297,461...66,403,170 		JBrowse link
G Coro2a coronin 2A ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:65,623,820...65,677,483
Ensembl chr 5:65,623,823...65,654,602 		JBrowse link
G Erp44 endoplasmic reticulum protein 44 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:62,516,550...62,610,762
Ensembl chr 5:67,312,098...67,406,444 		JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:65,425,630...65,428,438 		JBrowse link
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:65,743,073...66,083,695 		JBrowse link
G Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:61,384,575...61,413,346
Ensembl chr 5:66,180,164...66,208,938 		JBrowse link
G Hemgn hemogen ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:65,475,228...65,495,384
Ensembl chr 5:65,475,228...65,494,375 		JBrowse link
G Invs inversin ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:67,406,485...67,559,350 		JBrowse link
G Nans N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:65,575,970...65,593,164
Ensembl chr 5:65,576,015...65,610,547 		JBrowse link
G Ncbp1 nuclear cap binding protein subunit 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:65,211,632...65,244,532
Ensembl chr 5:65,211,358...65,244,665 		JBrowse link
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:67,157,141...67,198,287
Ensembl chr 5:67,157,375...67,198,285 		JBrowse link
G Sec61b SEC61 translocon subunit beta ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:66,569,184...66,577,394
Ensembl chr 5:66,569,196...66,580,028 		JBrowse link
G Stx17 syntaxin 17 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:62,446,138...62,506,108
Ensembl chr 5:67,241,727...67,302,218 		JBrowse link
G Tbc1d2 TBC1 domain family, member 2 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,884,114...60,931,717
Ensembl chr 5:65,679,680...65,726,996 		JBrowse link
G Tdrd7 tudor domain containing 7 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:65,034,317...65,108,165
Ensembl chr 5:65,034,341...65,108,161 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Tmod1 tropomodulin 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,316,445...60,393,957
Ensembl chr 5:65,134,132...65,189,561 		JBrowse link
G Trim14 tripartite motif-containing 14 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:65,596,149...65,620,434
Ensembl chr 5:65,596,149...65,620,434 		JBrowse link
G Trmo tRNA methyltransferase O ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:65,461,489...65,472,019
Ensembl chr 5:65,447,167...65,472,019 		JBrowse link
G Tstd2 thiosulfate sulfurtransferase like domain containing 2 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:65,167,362...65,211,525
Ensembl chr 5:65,181,000...65,211,525 		JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:65,227,281...65,275,784
Ensembl chr 5:65,227,281...65,272,425 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      congenital myasthenic syndrome 191
        congenital myasthenic syndrome 14 24
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              neuromuscular junction disease 221
                congenital myasthenic syndrome 191
                  congenital myasthenic syndrome 14 24
paths to the root