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congenital myasthenic syndrome 13 - Ontology Report - Rat Genome Database

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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:congenital myasthenic syndrome 13
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Accession:DOID:0110676 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: CMS13;   CMSTA2;   congenital myasthenic syndrome 13 with tubular aggregates;   congenital myasthenic syndrome with tubular aggregates 2
 primary_id: MIM:614750

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congenital myasthenic syndrome 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004624784:14,529,957...14,545,125
Ensembl chrNW_004624784:14,529,976...14,545,246 		JBrowse link
G G ABCG4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 1:110,522,773...110,537,747
Ensembl chr 1:110,524,900...110,537,735 		JBrowse link
G P ABCG4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:46,364,546...46,380,545
Ensembl chr 9:46,364,936...46,380,544 		JBrowse link
G S Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004936542:4,090,282...4,106,025
Ensembl chrNW_004936542:4,091,283...4,105,370 		JBrowse link
G D ABCG4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 5:14,707,964...14,720,782
Ensembl chr 5:14,707,960...14,721,240 		JBrowse link
G B ABCG4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr11:113,987,709...114,001,354
Ensembl chr11:117,916,043...117,929,636 		JBrowse link
G C Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004955412:20,256,467...20,270,172
Ensembl chrNW_004955412:20,256,293...20,271,278 		JBrowse link
G R Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:53,508,005...53,525,314
Ensembl chr 8:44,611,187...44,626,881 		JBrowse link
G M Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:44,184,485...44,199,953
Ensembl chr 9:44,184,485...44,199,912 		JBrowse link
G H ABCG4 ATP binding cassette subfamily G member 4 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr11:119,149,052...119,162,666
Ensembl chr11:119,149,052...119,162,653 		JBrowse link
G N C2cd2l C2CD2 like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004624784:14,489,638...14,498,617
Ensembl chrNW_004624784:14,489,478...14,501,175 		JBrowse link
G G C2CD2L C2CD2 like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 1:110,475,073...110,490,431
Ensembl chr 1:110,480,738...110,491,508 		JBrowse link
G P C2CD2L C2CD2 like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:46,321,761...46,331,078
Ensembl chr 9:46,321,817...46,331,078 		JBrowse link
G S C2cd2l C2CD2 like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004936542:4,058,945...4,068,187 JBrowse link
G D C2CD2L C2CD2 like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 5:14,746,613...14,755,952
Ensembl chr 5:14,747,208...14,755,925 		JBrowse link
G B C2CD2L C2CD2 like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr11:113,944,939...113,955,296
Ensembl chr11:117,875,077...117,883,581 		JBrowse link
G C C2cd2l C2CD2 like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004955412:20,214,915...20,232,260
Ensembl chrNW_004955412:20,223,890...20,236,709 		JBrowse link
G R C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:53,544,887...53,557,127
Ensembl chr 8:44,648,079...44,658,340 		JBrowse link
G M C2cd2l C2 calcium-dependent domain containing 2-like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:44,220,534...44,231,579
Ensembl chr 9:44,220,534...44,231,582 		JBrowse link
G H C2CD2L C2CD2 like IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr11:119,102,249...119,118,544
Ensembl chr11:119,102,198...119,118,544 		JBrowse link
G N Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575 		JBrowse link
G G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 1:110,581,049...110,679,284
Ensembl chr 1:110,581,143...110,674,481 		JBrowse link
G P CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834 		JBrowse link
G S Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004936542:4,136,389...4,235,746
Ensembl chrNW_004936542:4,136,511...4,228,288 		JBrowse link
G D CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956 		JBrowse link
G B CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671 		JBrowse link
G C Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539 		JBrowse link
G R Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G M Cbl Casitas B-lineage lymphoma ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		JBrowse link
G H CBL Cbl proto-oncogene IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G M Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:44,151,961...44,158,240
Ensembl chr 9:44,151,973...44,158,603 		JBrowse link
G N Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 OMIM
ClinVar		 PMID:9536098 PMID:12872255 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chrNW_004624784:14,478,276...14,483,814
Ensembl chrNW_004624784:14,478,276...14,483,763 		JBrowse link
G G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 OMIM
ClinVar		 PMID:9536098 PMID:12872255 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 1:110,469,312...110,474,859
Ensembl chr 1:110,469,794...110,474,440 		JBrowse link
G P DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 OMIM
ClinVar		 PMID:9536098 PMID:12872255 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 9:46,308,824...46,316,905
Ensembl chr 9:46,310,872...46,316,858 		JBrowse link
G S Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 OMIM
ClinVar		 PMID:9536098 PMID:12872255 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chrNW_004936542:4,049,107...4,054,100
Ensembl chrNW_004936542:4,048,979...4,054,105 		JBrowse link
G D DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 OMIM
ClinVar		 PMID:9536098 PMID:12872255 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 5:14,760,518...14,765,306
Ensembl chr 5:14,760,784...14,764,967 		JBrowse link
G B DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 OMIM
ClinVar		 PMID:9536098 PMID:12872255 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr11:113,934,705...113,940,535
Ensembl chr11:117,863,866...117,870,204 		JBrowse link
G C Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 OMIM
ClinVar		 PMID:9536098 PMID:12872255 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chrNW_004955412:20,205,381...20,217,874
Ensembl chrNW_004955412:20,205,381...20,217,871 		JBrowse link
G R Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 OMIM
ClinVar		 PMID:9536098 PMID:12872255 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 8:53,560,869...53,567,625
Ensembl chr 8:44,664,071...44,671,087 		JBrowse link
G M Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 OMIM
ClinVar		 PMID:9536098 PMID:12872255 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 9:44,237,314...44,247,374
Ensembl chr 9:44,237,316...44,245,197 		JBrowse link
G H DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 OMIM
ClinVar		 PMID:9536098 PMID:12872255 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G N Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004624784:14,568,801...14,572,498
Ensembl chrNW_004624784:14,568,858...14,572,508 		JBrowse link
G G DRC12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 1:110,566,126...110,572,800
Ensembl chr 1:110,566,174...110,571,880 		JBrowse link
G P DRC12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:46,406,085...46,412,449
Ensembl chr 9:46,397,081...46,411,758 		JBrowse link
G S Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004936542:4,127,054...4,131,148
Ensembl chrNW_004936542:4,126,890...4,131,179 		JBrowse link
G D DRC12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 5:14,679,180...14,686,446
Ensembl chr 5:14,682,004...14,686,150 		JBrowse link
G B DRC12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr11:114,028,927...114,034,620
Ensembl chr11:117,956,945...117,962,655 		JBrowse link
G C Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004955412:20,292,619...20,297,902
Ensembl chrNW_004955412:20,292,769...20,297,053 		JBrowse link
G R Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:53,468,344...53,481,168
Ensembl chr 8:44,577,836...44,584,338 		JBrowse link
G H DRC12 dynein regulatory complex subunit 12 homolog IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr11:119,190,254...119,195,841
Ensembl chr11:119,190,250...119,196,769 		JBrowse link
G N Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004624784:14,502,600...14,514,012
Ensembl chrNW_004624784:14,502,554...14,513,567 		JBrowse link
G G HINFP histone H4 transcription factor ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 1:110,495,188...110,509,855
Ensembl chr 1:110,500,566...110,510,222 		JBrowse link
G P HINFP histone H4 transcription factor ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:46,336,130...46,354,623
Ensembl chr 9:46,336,155...46,347,353 		JBrowse link
G S Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004936542:4,072,771...4,083,973
Ensembl chrNW_004936542:4,072,624...4,084,064 		JBrowse link
G D HINFP histone H4 transcription factor ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 5:14,731,592...14,742,893
Ensembl chr 5:14,731,588...14,742,559 		JBrowse link
G B HINFP histone H4 transcription factor ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr11:113,959,670...113,973,781
Ensembl chr11:117,888,855...117,902,184 		JBrowse link
G C Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004955412:20,236,607...20,247,288
Ensembl chrNW_004955412:20,242,317...20,249,456 		JBrowse link
G R Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:53,525,576...53,541,101
Ensembl chr 8:44,634,333...44,641,000 		JBrowse link
G M Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:44,201,509...44,217,003
Ensembl chr 9:44,203,737...44,216,968 		JBrowse link
G H HINFP histone H4 transcription factor IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr11:119,121,580...119,136,059
Ensembl chr11:119,121,580...119,136,059 		JBrowse link
G N Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004624784:14,467,515...14,474,954
Ensembl chrNW_004624784:14,467,533...14,474,954 		JBrowse link
G G HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:110,457,799...110,466,361
Ensembl chr 1:110,457,537...110,466,095 		JBrowse link
G P HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,308,868 		JBrowse link
G S Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004936542:4,037,888...4,046,089
Ensembl chrNW_004936542:4,037,201...4,050,810 		JBrowse link
G D HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082 		JBrowse link
G B HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757 		JBrowse link
G C Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004955412:20,192,519...20,202,635
Ensembl chrNW_004955412:20,192,522...20,202,635 		JBrowse link
G R Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 8:53,570,364...53,577,758
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G M Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525 		JBrowse link
G H HMBS hydroxymethylbilane synthase IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G H LOC126861360 BRD4-independent group 4 enhancer GRCh37_chr11:118972216-118973415 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2
ClinVar Annotator: match by term: Congenital myasthenic syndrome 13
ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates		 ClinVar PMID:9536098 PMID:17576681 PMID:22742743 PMID:23249953 PMID:24759841 More... NCBI chr11:119,100,981...119,103,121 JBrowse link
G N Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004624784:14,564,134...14,568,587
Ensembl chrNW_004624784:14,564,060...14,570,025 		JBrowse link
G G NHERF4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 1:110,561,132...110,566,097
Ensembl chr 1:110,561,101...110,566,634 		JBrowse link
G P NHERF4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:46,401,377...46,409,804
Ensembl chr 9:46,401,713...46,406,219 		JBrowse link
G S Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004936542:4,121,275...4,126,611 JBrowse link
G D NHERF4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 5:14,687,868...14,692,474
Ensembl chr 5:14,687,905...14,692,128 		JBrowse link
G B NHERF4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr11:114,024,150...114,028,884
Ensembl chr11:117,952,154...117,956,879 		JBrowse link
G C Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004955412:20,287,543...20,292,580
Ensembl chrNW_004955412:20,288,506...20,292,134 		JBrowse link
G R Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:53,481,209...53,485,793
Ensembl chr 8:44,584,390...44,588,860 		JBrowse link
G M Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:44,158,609...44,162,761
Ensembl chr 9:44,158,604...44,162,768 		JBrowse link
G H NHERF4 NHERF family PDZ scaffold protein 4 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr11:119,185,475...119,190,213
Ensembl chr11:119,185,457...119,190,223 		JBrowse link
G N Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004624784:14,549,926...14,564,028
Ensembl chrNW_004624784:14,549,834...14,563,398 		JBrowse link
G G NLRX1 NLR family member X1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 1:110,541,777...110,559,846
Ensembl chr 1:110,545,190...110,560,149 		JBrowse link
G P NLRX1 NLR family member X1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:46,384,373...46,400,752
Ensembl chr 9:46,384,948...46,400,983 		JBrowse link
G S Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004936542:4,105,980...4,121,176
Ensembl chrNW_004936542:4,109,136...4,122,978 		JBrowse link
G D NLRX1 NLR family member X1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 5:14,692,621...14,705,214
Ensembl chr 5:14,564,935...14,705,257 		JBrowse link
G B NLRX1 NLR family member X1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr11:114,007,415...114,022,712
Ensembl chr11:117,935,444...117,950,728 		JBrowse link
G C Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004955412:20,275,767...20,287,414
Ensembl chrNW_004955412:20,275,917...20,287,414 		JBrowse link
G R Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:53,486,866...53,503,498
Ensembl chr 8:44,590,048...44,606,484 		JBrowse link
G M Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:44,164,010...44,179,896
Ensembl chr 9:44,164,014...44,179,896 		JBrowse link
G H NLRX1 NLR family member X1 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr11:119,168,334...119,184,016
Ensembl chr11:119,166,568...119,184,016 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    physical disorder 54044
      congenital myasthenic syndrome 1946
        congenital myasthenic syndrome 13 91
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        peripheral nervous system disease 45985
          neuropathy 43737
            neuromuscular disease 33680
              neuromuscular junction disease 2265
                congenital myasthenic syndrome 1946
                  congenital myasthenic syndrome 13 91
paths to the root