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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:Bethlem Myopathy 1
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Accession:DOID:9001550 term browser browse the term
Synonyms:exact_synonym: BTHLM1
 narrow_synonym: Bethlem myopathy 1, autosomal recessive
 broad_synonym: COL6A1-related disorder
 primary_id: OMIM:158810
 xref: NCI:C126688
For additional species annotation, visit the Alliance of Genome Resources.


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Bethlem Myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACKR3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr2B:123,795,664...123,810,067
Ensembl chr2B:242,666,173...242,667,261
JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 NCBI chr  X:42,137,523...42,299,716
Ensembl chr  X:49,854,165...50,006,363
JBrowse link
G COL6A1 collagen type VI alpha 1 chain susceptibility ISO Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human) OMIM
RGD
PMID:8782832 RGD:1600934 NCBI chr21:32,322,185...32,346,850
Ensembl chr21:45,584,096...45,607,240
JBrowse link
G COL6A2 collagen type VI alpha 2 chain susceptibility ISO Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human) OMIM
RGD
PMID:8782832 RGD:1600934 NCBI chr21:32,442,859...32,478,076
Ensembl chr21:45,710,491...45,730,895
JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO OMIM NCBI chr2B:124,554,478...124,644,482 JBrowse link
G COPS8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr2B:124,315,423...124,328,830
Ensembl chr2B:243,169,322...243,182,937
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:32,481,042...32,501,932
Ensembl chr21:45,734,825...45,753,400
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12821
    physical disorder 2378
      congenital muscular dystrophy 70
        Bethlem myopathy 8
          Bethlem Myopathy 1 7
Path 2
Term Annotations click to browse term
  disease 12821
    disease of anatomical entity 12353
      nervous system disease 10088
        peripheral nervous system disease 2301
          neuropathy 2140
            neuromuscular disease 1686
              muscular disease 1104
                muscle tissue disease 739
                  atrophic muscular disease 290
                    muscular dystrophy 288
                      congenital muscular dystrophy 70
                        Bethlem myopathy 8
                          Bethlem Myopathy 1 7
paths to the root