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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
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Accession:DOID:14717 term browser browse the term
Definition:A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. (DO)
Synonyms:exact_synonym: centronuclear myopathies;   myotubular myopathy
 xref: GARD:101;   OMIM:PS160150;   ORDO:595;   ORDO:596;   ORDO:69186;   ORDO:69189
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
centronuclear myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm2 dynamin 2 ISO
ISS
ClinVar Annotator: match by term: Myopathy, centronuclear
OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959
ClinVar
MouseDO
PMID:16227997 PMID:17008356 PMID:17932957 PMID:18414213 PMID:19130742 PMID:20227276 PMID:20529869 PMID:20700106 PMID:20817456 PMID:20858595 PMID:20927630 PMID:21221624 PMID:21762456 PMID:22096584 PMID:22369075 PMID:22396310 PMID:22613877 PMID:23338057 PMID:23394783 PMID:24016602 PMID:24088041 PMID:24135484 PMID:24366529 PMID:24465259 PMID:25262827 PMID:25326635 PMID:25492887 PMID:25501959 PMID:25741868 PMID:25957634 PMID:26199319 PMID:26273216 PMID:26467025 PMID:26633545 PMID:26842864 PMID:26908122 PMID:27343996 PMID:28492532 PMID:28676641 PMID:32860008 NCBI chr 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524
JBrowse link
G Klhl31 kelch-like family member 31 ISS OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 MouseDO NCBI chr 8:84,945,444...84,968,811
Ensembl chr 8:84,945,444...84,968,811
JBrowse link
G Mtm1 myotubularin 1 ISO
ISS
ClinVar Annotator: match by term: Myotubular myopathy
OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959
ClinVar
MouseDO
PMID:18414213 NCBI chr 6:18,821,821...18,840,449
Ensembl chr 6:18,821,815...18,839,409
JBrowse link
G Pln phospholamban ISS OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 MouseDO NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myotubular myopathy
ClinVar Annotator: match by term: Centronuclear myopathy
ClinVar PMID:22473935 PMID:25741868 PMID:28492532 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Myotubular myopathy
ClinVar Annotator: match by term: Centronuclear myopathy
ClinVar PMID:22335739 PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 PMID:26701604 PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link
autosomal recessive centronuclear myopathy 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 OMIM:255200
ClinVar Annotator: match by term: Autosomal recessive centronuclear myopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Centronuclear Myopathy, Recessive
ClinVar
CTD
PMID:17676042 PMID:18414213 PMID:20142620 PMID:22912834 PMID:22960267 PMID:24033266 PMID:24549043 PMID:24755653 PMID:25262827 PMID:25741868 PMID:26101835 PMID:26467025 PMID:28492532 PMID:29103045 PMID:29950440 NCBI chr18:25,163,575...25,222,139
Ensembl chr18:25,163,561...25,222,135
JBrowse link
G Speg striated muscle enriched protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:82,571,333...82,628,684
Ensembl chr 9:82,571,269...82,628,709
JBrowse link
centronuclear myopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1
ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant
OMIM
ClinVar
PMID:16227997 PMID:17008356 PMID:17932957 PMID:18414213 PMID:19130742 PMID:19623537 PMID:19932619 PMID:20227276 PMID:20529869 PMID:20700106 PMID:20817456 PMID:20858595 PMID:20927630 PMID:21221624 PMID:21762456 PMID:22096584 PMID:22369075 PMID:22396310 PMID:22613877 PMID:23338057 PMID:23394783 PMID:24016602 PMID:24033266 PMID:24088041 PMID:24135484 PMID:24366529 PMID:24465259 PMID:24728327 PMID:25214167 PMID:25262827 PMID:25326635 PMID:25492887 PMID:25501959 PMID:25741868 PMID:25957634 PMID:26199319 PMID:26273216 PMID:26467025 PMID:26633545 PMID:26842864 PMID:26908122 PMID:27343996 PMID:27854218 PMID:28492532 PMID:28676641 PMID:32860008 NCBI chr 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524
JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:25741868 NCBI chr 6:18,821,821...18,840,449
Ensembl chr 6:18,821,815...18,839,409
JBrowse link
G Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 OMIM
ClinVar
PMID:17008356 PMID:25741868 NCBI chr 4:145,195,046...145,238,097
Ensembl chr 4:145,195,070...145,238,097
JBrowse link
G Myf6 myogenic factor 6 ISO ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant
ClinVar Annotator: match by term: Myopathy, centronuclear, 3
ClinVar PMID:11053684 PMID:25741868 PMID:28492532 NCBI chr 7:49,739,643...49,741,490
Ensembl chr 7:49,739,646...49,741,540
JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:31260566 NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248
JBrowse link
G Otogl otogelin-like ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr 7:51,768,469...51,935,442
Ensembl chr 7:51,794,173...51,935,142
JBrowse link
G Ppp1r12a protein phosphatase 1, regulatory subunit 12A ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr 7:51,404,971...51,515,382
Ensembl chr 7:51,404,919...51,515,373
JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr 7:49,763,657...50,034,932
Ensembl chr 7:49,763,657...50,034,932
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 OMIM NCBI chr18:25,163,575...25,222,139
Ensembl chr18:25,163,561...25,222,135
JBrowse link
centronuclear myopathy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 4
ClinVar Annotator: match by OMIM:614807
OMIM
ClinVar
PMID:18414213 PMID:22818856 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:15,155,839...15,160,039
Ensembl chr10:15,156,207...15,159,894
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, polypeptide 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10655546 PMID:11774072 PMID:11980847 PMID:14507861 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18622259 PMID:19204079 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:23028769 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25978063 PMID:27408750 PMID:27508083 PMID:27535533 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
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 PMID:17726231 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 OMIM
ClinVar
PMID:25087613 PMID:25741868 PMID:28492532 NCBI chr 9:82,571,333...82,628,684
Ensembl chr 9:82,571,269...82,628,709
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 ClinVar
OMIM
PMID:16760198 PMID:27816943 NCBI chr 3:58,965,025...59,120,507
Ensembl chr 3:58,965,552...59,067,369
JBrowse link
centronuclear myopathy X-linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd99l2 CD99 molecule-like 2 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr15:5,265,257...5,311,232
Ensembl chr15:5,265,307...5,311,233
Ensembl chr15:5,265,307...5,311,233
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Myotubular myopathy, X-linked
ClinVar Annotator: match by term: Severe X-linked myotubular myopathy
ClinVar PMID:17932957 PMID:18414213 PMID:20227276 PMID:20700106 PMID:22396310 PMID:23338057 PMID:24135484 PMID:25741868 PMID:25957634 PMID:26199319 PMID:28492532 PMID:32860008 NCBI chr 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524
JBrowse link
G Gpr50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr17:36,771,578...36,776,225
Ensembl chr17:36,771,639...36,776,225
JBrowse link
G Hmgb3 high mobility group box 3 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr17:36,690,190...36,694,329
Ensembl chr17:36,690,249...36,694,325
Ensembl chr14:36,690,249...36,694,325
JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy
ClinVar Annotator: match by OMIM:310400
ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY 1
ClinVar Annotator: match by term: Myotubular myopathy, X-linked
OMIM
ClinVar
PMID:2352255 PMID:7611280 PMID:8640223 PMID:9199578 PMID:9285787 PMID:9305655 PMID:9450905 PMID:9829274 PMID:9858861 PMID:10063835 PMID:10215413 PMID:10449925 PMID:10502779 PMID:10714588 PMID:10726846 PMID:10790201 PMID:10900271 PMID:11552027 PMID:11793470 PMID:12031625 PMID:12118066 PMID:12467733 PMID:12522554 PMID:12646134 PMID:12707446 PMID:12859411 PMID:15725586 PMID:15883335 PMID:17005396 PMID:17537630 PMID:17973976 PMID:18414213 PMID:18817572 PMID:19084976 PMID:20358311 PMID:20434914 PMID:20500434 PMID:21135508 PMID:22520358 PMID:23071445 PMID:23917616 PMID:24033266 PMID:24381816 PMID:25741868 PMID:25957634 PMID:26338224 PMID:26467025 PMID:26938784 PMID:27017278 PMID:28492532 PMID:28685322 PMID:29567349 PMID:30047259 PMID:30884204 PMID:32805447 NCBI chr 6:18,821,821...18,840,449
Ensembl chr 6:18,821,815...18,839,409
JBrowse link
G Mtmr1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr18:291,785...325,415
Ensembl chr18:291,780...325,377
JBrowse link
G Vma21 vacuolar ATPase assembly factor VMA21 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr16:70,142,561...70,151,833
Ensembl chr16:70,142,761...70,242,979
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        muscular disease 1168
          muscle tissue disease 792
            myopathy 644
              centronuclear myopathy 23
                autosomal dominant centronuclear myopathy + 9
                autosomal recessive centronuclear myopathy + 4
                centronuclear myopathy 6 with fiber-type disproportion 1
                centronuclear myopathy X-linked 7
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  myopathy 644
                    centronuclear myopathy 23
                      autosomal dominant centronuclear myopathy + 9
                      autosomal recessive centronuclear myopathy + 4
                      centronuclear myopathy 6 with fiber-type disproportion 1
                      centronuclear myopathy X-linked 7
paths to the root