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
Accession: DOID:0111220
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
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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
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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 PMID:20142620 PMID:22912834 PMID:22960267 PMID:24033266 PMID:24755653 PMID:25260562 PMID:25262827 PMID:25640679 PMID:25741868 PMID:26101835 PMID:26467025 PMID:28492532 PMID:28687524 PMID:29103045 PMID:29950440 PMID:30293987 PMID:31127772 PMID:36133075 More...
NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
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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
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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
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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
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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
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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
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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
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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
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LOC129934710
ATAC-STARR-seq lymphoblastoid active region 16481
IAGP
ClinVar Annotator: match by term: Myopathy, centronuclear, 2
ClinVar
PMID:28492532
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LOC129934711
ATAC-STARR-seq lymphoblastoid active region 16482
IAGP
ClinVar Annotator: match by term: Myopathy, centronuclear, 2
ClinVar
PMID:28492532
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LOC129934712
ATAC-STARR-seq lymphoblastoid active region 16483
IAGP
ClinVar Annotator: match by term: Myopathy, centronuclear, 2
ClinVar
PMID:28492532
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LOC129934713
ATAC-STARR-seq lymphoblastoid active region 16484
IAGP
ClinVar Annotator: match by term: Myopathy, centronuclear, 2
ClinVar
PMID:28492532
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LOC129934714
ATAC-STARR-seq lymphoblastoid active region 16485
IAGP
ClinVar Annotator: match by term: Myopathy, centronuclear, 2
ClinVar
PMID:28492532
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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
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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
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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
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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
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