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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:autosomal recessive centronuclear myopathy
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Accession:DOID:0111216 term browser browse the term
Definition:A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: AR-CNM;   centronuclear myopathy, recessive;   myotubular myopathy, autosomal recessive
 primary_id: MESH:C562934
 alt_id: OMIA:001660;   RDO:0008403;   RDO:0012436
 xref: GARD:12718;   ORDO:169186


show annotations for term's descendants           Sort by:
autosomal recessive centronuclear myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIN1 bridging integrator 1 IAGP
ISO		 Centronuclear myopathy 2, BIN1-related
ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVE		 OMIA
ClinVar		 PMID:3680647 PMID:16674719 PMID:17017655 PMID:18271825 PMID:19135395 More... NCBI chr19:23,503,934...23,534,407
Ensembl chr19:23,375,363...23,534,303 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr37:25,947,605...26,005,601
Ensembl chr37:25,947,773...26,005,601 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Centronuclear Myopathy, Recessive ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
centronuclear myopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIN1 bridging integrator 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676042 PMID:18414213 More... NCBI chr19:23,503,934...23,534,407
Ensembl chr19:23,375,363...23,534,303 		JBrowse link
G CYP27C1 cytochrome P450 family 27 subfamily C member 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr19:23,374,295...23,400,054 JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr19:23,310,911...23,344,083
Ensembl chr19:23,310,986...23,337,683 		JBrowse link
G GPR17 G protein-coupled receptor 17 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr19:22,958,778...22,968,489
Ensembl chr19:22,963,363...22,964,382 		JBrowse link
G IWS1 interacts with SUPT6H, CTD assembly factor 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr19:23,081,625...23,122,618
Ensembl chr19:23,082,096...23,122,618 		JBrowse link
G LIMS2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr19:22,932,251...22,978,437
Ensembl chr19:22,931,779...22,982,765 		JBrowse link
G MAP3K2 mitogen-activated protein kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr19:23,210,106...23,303,426
Ensembl chr19:23,210,714...23,294,586 		JBrowse link
G MYO7B myosin VIIB ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr19:22,979,078...23,064,815
Ensembl chr19:22,979,074...23,050,834 		JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:25741868 NCBI chr37:25,947,605...26,005,601
Ensembl chr37:25,947,773...26,005,601 		JBrowse link
centronuclear myopathy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10655546 PMID:11774072 PMID:11980847 PMID:14507861 PMID:15037581 More... NCBI chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10862084 PMID:12552569 PMID:15060124 PMID:15863657 PMID:16944272 More... NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 | ClinVar Annotator: match by term: SPEG-related condition OMIM
ClinVar		 PMID:25087613 PMID:25741868 PMID:28492532 NCBI chr37:25,947,605...26,005,601
Ensembl chr37:25,947,773...26,005,601 		JBrowse link
centronuclear myopathy 6 with fiber-type disproportion term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 6, with fiber-type disproportion OMIM
ClinVar		 PMID:16760198 PMID:25741868 PMID:27816943 PMID:28492532 NCBI chr36:17,353,829...17,515,247
Ensembl chr36:17,341,300...17,514,869 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      congenital structural myopathy 132
        autosomal recessive centronuclear myopathy 14
          centronuclear myopathy 2 10
          centronuclear myopathy 5 3
          centronuclear myopathy 6 with fiber-type disproportion 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        peripheral nervous system disease 4038
          neuropathy 3843
            neuromuscular disease 3017
              muscular disease 2130
                muscle tissue disease 1287
                  myopathy 1000
                    congenital myopathy 240
                      congenital structural myopathy 132
                        centronuclear myopathy 32
                          autosomal recessive centronuclear myopathy 14
                            centronuclear myopathy 2 10
                            centronuclear myopathy 5 3
                            centronuclear myopathy 6 with fiber-type disproportion 1
paths to the root