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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:Bethlem myopathy
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Accession:DOID:0050663 term browser browse the term
Definition:A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene. (DO)
Synonyms:exact_synonym: Benign Congenital Muscular Dystrophy;   Benign Congenital Myopathy with Contractures
 narrow_synonym: BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE
 primary_id: MESH:C535436
 xref: GARD:873;   OMIM:PS158810


show annotations for term's descendants           Sort by:
Bethlem myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Bethlem myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:72,927,897...73,049,168
Ensembl chr 6:76,219,319...76,340,496 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 More... NCBI chr21:32,322,185...32,346,850
Ensembl chr21:45,584,096...45,607,240 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:4793163 PMID:7695699 PMID:8218237 PMID:9536098 PMID:12840783 More... NCBI chr21:32,442,859...32,478,076
Ensembl chr21:45,710,491...45,730,895 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures		 ClinVar PMID:7695699 PMID:8218237 PMID:9536098 PMID:15563506 PMID:15689448 More... NCBI chr2B:124,554,478...124,644,482 JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:32,481,042...32,501,932
Ensembl chr21:45,734,825...45,753,400 		JBrowse link
Bethlem Myopathy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACKR3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:123,795,664...123,810,067
Ensembl chr2B:242,666,173...242,667,261 		JBrowse link
G AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:122,722,529...123,363,009
Ensembl chr2B:241,802,544...242,216,166 		JBrowse link
G AGXT alanine--glyoxylate aminotransferase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:128,125,289...128,137,091
Ensembl chr2B:246,928,784...246,939,837 		JBrowse link
G ANKMY1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:127,726,417...127,813,127
Ensembl chr2B:246,530,950...246,620,097 		JBrowse link
G ANO7 anoctamin 7 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:128,458,076...128,496,307
Ensembl chr2B:247,254,473...247,290,136 		JBrowse link
G ASB1 ankyrin repeat and SOCS box containing 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:125,664,934...125,690,175
Ensembl chr2B:244,508,295...244,527,771 		JBrowse link
G ASB18 ankyrin repeat and SOCS box containing 18 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:123,423,849...123,495,441 JBrowse link
G ATG4B autophagy related 4B cysteine peptidase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:128,913,323...128,950,112
Ensembl chr2B:247,702,880...247,738,977 		JBrowse link
G BOK BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:128,832,458...128,847,918
Ensembl chr2B:247,626,494...247,640,238 		JBrowse link
G CAPN10 calpain 10 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:127,838,477...127,851,334
Ensembl chr2B:246,645,630...246,679,169 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 PMID:28492532 NCBI chr  X:42,137,523...42,299,716
Ensembl chr  X:49,854,165...50,006,363 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: COL6A1-related condition
Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human)		 OMIM
ClinVar
RGD		 PMID:1788629 PMID:7551830 PMID:7695699 PMID:7881296 PMID:8218237 More... RGD:1600934 NCBI chr21:32,322,185...32,346,850
Ensembl chr21:45,584,096...45,607,240 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain susceptibility ISO Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human)
ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1		 RGD
ClinVar		 PMID:1788629 PMID:4793163 PMID:7695699 PMID:7785673 PMID:8218237 More... RGD:1600934 NCBI chr21:32,442,859...32,478,076
Ensembl chr21:45,710,491...45,730,895 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:3352914 PMID:7695699 PMID:8218237 PMID:8817344 PMID:9536084 More... NCBI chr2B:124,554,478...124,644,482 JBrowse link
G COPS8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:124,315,423...124,328,830
Ensembl chr2B:243,169,322...243,182,937 		JBrowse link
G COPS9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:127,373,916...127,379,543
Ensembl chr2B:246,186,565...246,196,471 		JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:129,012,616...129,045,873
Ensembl chr2B:247,799,219...247,830,621 		JBrowse link
G DTYMK deoxythymidylate kinase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:128,952,009...128,963,640
Ensembl chr2B:247,740,881...247,752,504 		JBrowse link
G ERFE erythroferrone ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:125,390,190...125,401,677 JBrowse link
G ESPNL espin like ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:125,331,809...125,364,719
Ensembl chr2B:244,182,781...244,214,009 		JBrowse link
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:128,627,208...128,766,233
Ensembl chr2B:247,438,265...247,559,735 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:32,481,042...32,501,932
Ensembl chr21:45,734,825...45,753,400 		JBrowse link
G GAL3ST2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532
G GBX2 gastrulation brain homeobox 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:123,392,499...123,399,549 JBrowse link
G GPC1 glypican 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:127,684,839...127,717,294
Ensembl chr2B:246,511,082...246,523,569 		JBrowse link
G GPR35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:127,853,660...127,887,204
Ensembl chr2B:246,680,998...246,692,090 		JBrowse link
G HDAC4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054 		JBrowse link
G HDLBP high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:128,498,647...128,587,305
Ensembl chr2B:247,293,154...247,335,318 		JBrowse link
G HES6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:125,471,244...125,473,025 JBrowse link
G ILKAP ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:125,403,220...125,436,614
Ensembl chr2B:244,253,970...244,278,317 		JBrowse link
G ING5 inhibitor of growth family member 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:128,979,282...129,007,476
Ensembl chr2B:247,755,552...247,793,893 		JBrowse link
G IQCA1 IQ motif containing with AAA domain 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:123,555,491...123,735,660
Ensembl chr2B:242,416,200...242,593,852 		JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:127,969,494...128,078,282
Ensembl chr2B:246,778,679...246,860,326 		JBrowse link
G KLHL30 kelch like family member 30 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:125,370,477...125,386,866
Ensembl chr2B:244,220,949...244,234,879 		JBrowse link
G LOC100968789 olfactory receptor 6B3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:127,289,492...127,290,483
Ensembl chr2B:246,105,172...246,106,170 		JBrowse link
G LOC100969138 olfactory receptor 6B2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:127,273,084...127,276,009
Ensembl chr2B:246,090,216...246,091,154 		JBrowse link
G LOC117979297 aquaporin-12B ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:127,947,156...127,954,054 JBrowse link
G LRRFIP1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:124,856,660...125,013,602
Ensembl chr2B:243,775,371...243,863,116 		JBrowse link
G MAB21L4 mab-21 like 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:128,144,248...128,154,670
Ensembl chr2B:246,946,812...246,956,949 		JBrowse link
G MLPH melanophilin ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:124,716,573...124,781,829
Ensembl chr2B:243,569,782...243,633,177 		JBrowse link
G MTERF4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:128,330,967...128,362,014
Ensembl chr2B:247,128,252...247,158,239 		JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:127,204,900...127,269,478
Ensembl chr2B:246,022,168...246,087,658 		JBrowse link
G NEU4 neuraminidase 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr12:130,824,179...130,833,287 JBrowse link
G OTOS otospiralin ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:127,381,936...127,383,875
Ensembl chr2B:246,199,022...246,200,861 		JBrowse link
G PASK PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:128,364,745...128,418,837
Ensembl chr2B:247,162,011...247,214,803 		JBrowse link
G PDCD1 programmed cell death 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr12:130,849,353...130,858,776 JBrowse link
G PER2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:125,477,021...125,521,577
Ensembl chr2B:244,328,122...244,371,040 		JBrowse link
G PPP1R7 protein phosphatase 1 regulatory subunit 7 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:128,418,212...128,452,417
Ensembl chr2B:247,214,882...247,248,761 		JBrowse link
G PRLH prolactin releasing hormone ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:124,795,504...124,796,107
Ensembl chr2B:243,642,958...243,646,867 		JBrowse link
G RAB17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:124,802,789...124,820,775
Ensembl chr2B:243,654,176...243,671,003 		JBrowse link
G RAMP1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:125,092,164...125,144,032
Ensembl chr2B:243,942,771...243,995,221 		JBrowse link
G RBM44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:125,032,071...125,075,989 JBrowse link
G RNPEPL1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:127,820,523...127,830,863 JBrowse link
G SCLY selenocysteine lyase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:125,276,540...125,331,057
Ensembl chr2B:244,144,105...244,181,767 		JBrowse link
G SEPTIN2 septin 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:128,586,659...128,624,991
Ensembl chr2B:247,380,771...247,419,556 		JBrowse link
G SNED1 sushi, nidogen and EGF like domains 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:128,253,888...128,351,819
Ensembl chr2B:247,085,509...247,144,421 		JBrowse link
G STK25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:128,766,408...128,779,939
Ensembl chr2B:247,560,624...247,574,249 		JBrowse link
G THAP4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:128,858,512...128,913,474
Ensembl chr2B:247,650,249...247,701,219 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:125,558,537...125,637,733
Ensembl chr2B:244,405,992...244,481,785 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:126,080,684...126,143,677 JBrowse link
G UBE2F ubiquitin conjugating enzyme E2 F (putative) ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:125,198,590...125,274,112
Ensembl chr2B:244,050,518...244,125,333 		JBrowse link
Bethlem Myopathy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1B OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:8782832 PMID:15689448 PMID:16199547 More... NCBI chr21:32,442,859...32,478,076
Ensembl chr21:45,710,491...45,730,895 		JBrowse link
Bethlem Myopathy 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1C OMIM
ClinVar		 PMID:3352914 PMID:8817344 PMID:9536084 PMID:15689448 PMID:17886299 More... NCBI chr2B:124,554,478...124,644,482 JBrowse link
Bethlem Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 2 | ClinVar Annotator: match by term: COL12A1-related condition OMIM
ClinVar		 PMID:24334604 PMID:24334769 PMID:25741868 PMID:25741905 PMID:27348394 More... NCBI chr 6:72,927,897...73,049,168
Ensembl chr 6:76,219,319...76,340,496 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4917
      congenital muscular dystrophy 183
        Collagen VI-related Myopathy 62
          Bethlem myopathy 62
            Bethlem Myopathy 1A 61
            Bethlem Myopathy 1B 1
            Bethlem Myopathy 1C 1
            Bethlem Myopathy 2 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        peripheral nervous system disease 4039
          neuropathy 3848
            neuromuscular disease 3026
              muscular disease 2119
                muscle tissue disease 1275
                  atrophic muscular disease 602
                    muscular dystrophy 598
                      congenital muscular dystrophy 183
                        Collagen VI-related Myopathy 62
                          Bethlem myopathy 62
                            Bethlem Myopathy 1A 61
                            Bethlem Myopathy 1B 1
                            Bethlem Myopathy 1C 1
                            Bethlem Myopathy 2 1
paths to the root