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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:centronuclear myopathy 2
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Accession:DOID:0111220 term browser browse the term
Definition:An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3. (DO)
Synonyms:exact_synonym: CNM2;   autosomal recessive centronuclear myopathy 2
 primary_id: OMIM:255200


show annotations for term's descendants           Sort by:
centronuclear myopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASIC4-AS1 ASIC4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:25741868 NCBI chr 2:219,481,732...219,517,086
Ensembl chr 2:219,482,073...219,516,877 		JBrowse link
G BIN1 bridging integrator 1 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676042 PMID:18414213 More... NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288 		JBrowse link
G CYP27C1 cytochrome P450 family 27 subfamily C member 1 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr 2:127,183,832...127,220,299
Ensembl chr 2:127,183,832...127,220,313 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G GPR17 G protein-coupled receptor 17 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr 2:127,646,153...127,652,639
Ensembl chr 2:127,645,864...127,652,639 		JBrowse link
G IWS1 interacts with SUPT6H, CTD assembly factor 1 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr 2:127,480,812...127,527,336
Ensembl chr 2:127,436,207...127,526,886 		JBrowse link
G LIMS2 LIM zinc finger domain containing 2 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr 2:127,638,426...127,681,786
Ensembl chr 2:127,638,381...127,681,786 		JBrowse link
G LOC112806045 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:127822028-127823227 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:25640679 PMID:28492532 NCBI chr 2:127,064,098...127,065,651 JBrowse link
G LOC122819150 Sharpr-MPRA regulatory region 2128 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar NCBI chr 2:127,107,002...127,107,387 JBrowse link
G LOC129934710 ATAC-STARR-seq lymphoblastoid active region 16481 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532
G LOC129934711 ATAC-STARR-seq lymphoblastoid active region 16482 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532
G LOC129934712 ATAC-STARR-seq lymphoblastoid active region 16483 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532
G LOC129934713 ATAC-STARR-seq lymphoblastoid active region 16484 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532
G LOC129934714 ATAC-STARR-seq lymphoblastoid active region 16485 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532
G MAP3K2 mitogen-activated protein kinase kinase kinase 2 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr 2:127,298,668...127,388,465
Ensembl chr 2:127,298,668...127,388,465 		JBrowse link
G MYO7B myosin VIIB IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr 2:127,535,683...127,637,726
Ensembl chr 2:127,535,683...127,637,729 		JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242 		JBrowse link
G SPEG striated muscle enriched protein kinase IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:25741868 NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7135
      congenital structural myopathy 188
        centronuclear myopathy 2 18
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        peripheral nervous system disease 5379
          neuropathy 5126
            neuromuscular disease 4040
              muscular disease 2806
                muscle tissue disease 1714
                  myopathy 1390
                    congenital myopathy 328
                      congenital structural myopathy 188
                        centronuclear myopathy 45
                          autosomal recessive centronuclear myopathy 24
                            centronuclear myopathy 2 18
paths to the root