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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:Polyglucosan Body Myopathy 1 with or without Immunodeficiency
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Accession:DOID:9007616 term browser browse the term
Definition:An autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. (OMIM)
Synonyms:exact_synonym: PBMEI;   PGBM1;   POLYGLUCOSAN BODY MYOPATHY, EARLY-ONSET, WITH OR WITHOUT IMMUNODEFICIENCY;   polyglucosan body myopathy-1
 narrow_synonym: POLYGLUCOSAN BODY MYOPATHY 1 WITH IMMUNODEFICIENCY;   POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY;   POLYGLUCOSAN BODY MYOPATHY, EARLY-ONSET, WITH IMMUNODEFICIENCY
 primary_id: OMIM:615895
For additional species annotation, visit the Alliance of Genome Resources.


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Polyglucosan Body Myopathy 1 with or without Immunodeficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csnk2a1 casein kinase 2 alpha 1 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:147,713,808...147,760,375
Ensembl chr 3:147,713,821...147,757,862
JBrowse link
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency
ClinVar Annotator: match by term: Polyglucosan body myopathy, early-onset, with or without immunodeficiency
ClinVar
OMIM
PMID:2379848, PMID:18691923, PMID:23104095, PMID:23798481, PMID:23889995, PMID:25741868, PMID:28492532 NCBI chr 3:147,793,014...147,809,941
Ensembl chr 3:147,793,017...147,809,919
JBrowse link
G Scrt2 scratch family transcriptional repressor 2 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:147,585,947...147,602,343
Ensembl chr 3:147,585,947...147,597,660
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
JBrowse link
G Srxn1 sulfiredoxin 1 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:147,608,850...147,614,410
Ensembl chr 3:147,609,095...147,632,801
JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:147,772,006...147,790,946
Ensembl chr 3:147,772,165...147,789,158
JBrowse link
G Tcf15 transcription factor 15 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:147,643,250...147,649,511
Ensembl chr 3:147,643,250...147,649,504
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Pathological Conditions, Signs and Symptoms 8754
      Pathologic Processes 6130
        Muscle Weakness 100
          Polyglucosan Body Myopathy 1 with or without Immunodeficiency 7
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            carbohydrate metabolic disorder 393
              glycogen metabolism disorder 79
                glycogen storage disease 79
                  Polyglucosan Body Myopathy 1 with or without Immunodeficiency 7
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.