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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
 primary_id: OMIM:616228
 alt_id: RDO:9001468


show annotations for term's descendants           Sort by:
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 5:61,768,740...61,773,297 		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 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596 		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 5:60,743,077...60,765,726
Ensembl chr 5:60,743,443...60,765,717 		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 5:61,501,963...61,607,591
Ensembl chr 5:61,501,963...61,607,591 		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 5:60,825,630...60,881,917
Ensembl chr 5:60,828,247...60,859,035 		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 5:62,516,551...62,610,761 		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 5:60,630,027...60,632,835 		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 5:60,947,526...61,288,104 		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 5:61,384,571...61,413,354 		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 5:60,679,633...60,698,597
Ensembl chr 5:60,679,633...60,698,669 		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 5:62,610,968...62,763,350 		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 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950 		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 5:60,416,023...60,449,004
Ensembl chr 5:60,415,982...60,449,089 		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 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733 		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 5:61,773,594...61,781,804
Ensembl chr 5:61,773,594...61,781,804 		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 5:62,446,187...62,504,451 		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 5:60,884,124...60,931,352 		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 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544 		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 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		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 5:60,338,512...60,393,956 		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 5:60,800,568...60,824,858
Ensembl chr 5:60,800,032...60,824,858 		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 5:60,663,106...60,676,423
Ensembl chr 5:60,667,864...60,676,423 		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 5:60,371,751...60,415,916
Ensembl chr 5:60,393,454...60,415,916 		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 5:60,431,673...60,475,726
Ensembl chr 5:60,431,673...60,475,726 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital myasthenic syndrome 190
        congenital myasthenic syndrome 14 24
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        peripheral nervous system disease 4120
          neuropathy 3904
            neuromuscular disease 3059
              neuromuscular junction disease 220
                congenital myasthenic syndrome 190
                  congenital myasthenic syndrome 14 24
paths to the root