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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
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Accession:DOID:3635 term browser browse the term
Definition:A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
Synonyms:exact_synonym: congenital myasthenia;   congenital myasthenia gravi;   congenital myasthenia gravis;   congenital myasthenic syndrome, dominant/recessive;   congenital myasthenic syndromes;   congenital slow channel myasthenic syndromes;   congenital slow-channel myasthenic syndrome;   familial limb-girdle myasthenia;   postsynaptic congenital myasthenic syndromes;   presynaptic congenital myasthenic syndromes
 narrow_synonym: congenital myasthenic syndrome, CHRNE-related;   congenital myasthenic syndrome, due to CHRNE;   congenital myasthenic syndrome, recessive
 primary_id: MESH:D020294
 alt_id: OMIA:000685;   RDO:0001518
 xref: GARD:11902;   NCI:C84647;   OMIM:PS601462;   OMIM:PS610542;   ORDO:590
For additional species annotation, visit the Alliance of Genome Resources.


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congenital myasthenic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agrn agrin ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19631309, PMID:22205389, PMID:24951643, PMID:28492532 NCBI chr 5:173,589,910...173,622,813
Ensembl chr 5:173,589,819...173,622,645
JBrowse link
G Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:224,851,352...224,931,461
Ensembl chr 2:224,851,383...224,931,459
JBrowse link
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:63,187,466...63,192,025
Ensembl chr 5:63,187,468...63,192,025
JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:11172068, PMID:21786365, PMID:24033266, PMID:26080897, PMID:28492532, PMID:28497657 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive
ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital
ClinVar Annotator: match by term: Congenital myasthenic syndrome
ClinVar PMID:3651795, PMID:6287911, PMID:7619526, PMID:7863154, PMID:8872460, PMID:9158151, PMID:9221765, PMID:15079006, PMID:16685696, PMID:18252226, PMID:18806275, PMID:24033266, PMID:25305004, PMID:25450229, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29054425 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr10:56,390,671...56,403,255
Ensembl chr10:56,390,671...56,403,188
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive
ClinVar Annotator: match by term: Congenital myasthenic syndrome
ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8872460, PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386, PMID:31560172 NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome
ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive
ClinVar PMID:8755487, PMID:8957026, PMID:9097970, PMID:9158150, PMID:9668239, PMID:9708546, PMID:10496269, PMID:10514102, PMID:10534268, PMID:12141316, PMID:12417530, PMID:15322984, PMID:15367858, PMID:15951177, PMID:17363247, PMID:17878953, PMID:18414213, PMID:19064877, PMID:19153382, PMID:19544078, PMID:20562457, PMID:21150643, PMID:21175599, PMID:21940170, PMID:22382357, PMID:22678886, PMID:22865819, PMID:24033266, PMID:24295813, PMID:25326635, PMID:25741868, PMID:26467025, PMID:27634344, PMID:27717316, PMID:28024842, PMID:28492532, PMID:29054425, PMID:29383513 NCBI chr10:57,238,960...57,246,750
Ensembl chr10:57,238,946...57,243,435
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive
CTD
ClinVar
PMID:16826520, PMID:25741868 NCBI chr 9:94,302,218...94,308,591 JBrowse link
G Col13a1 collagen type XIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:31,456,502...31,598,360
Ensembl chr20:31,456,852...31,598,118
JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive
ClinVar Annotator: match by term: Congenital myasthenic syndrome
ClinVar PMID:9689136, PMID:22678886, PMID:24033266, PMID:24281389, PMID:25741868 NCBI chr16:7,626,380...7,681,621
Ensembl chr16:7,627,603...7,681,576
JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome
ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial
ClinVar PMID:2261499, PMID:16917026, PMID:17439981, PMID:17452375, PMID:18161030, PMID:18165682, PMID:18626973, PMID:19261599, PMID:19837590, PMID:20012313, PMID:20458068, PMID:20554332, PMID:20562457, PMID:20610155, PMID:21520333, PMID:21850686, PMID:21984750, PMID:22230109, PMID:22661499, PMID:22678886, PMID:23219351, PMID:23657916, PMID:23790237, PMID:23831158, PMID:24033266, PMID:24088041, PMID:24425145, PMID:24500997, PMID:25033858, PMID:25237101, PMID:25326635, PMID:25326637, PMID:25741868, PMID:26467025, PMID:26583494, PMID:26633545, PMID:27391121, PMID:28492532, PMID:28716243, PMID:30311386, PMID:31880392 NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:48,657,779...48,664,531
Ensembl chr 8:48,657,795...48,664,860
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive
ClinVar Annotator: match by term: Congenital myasthenic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23794683, PMID:25741868, PMID:28464723, PMID:28492532, PMID:29054425, PMID:29905857 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:23768512, PMID:23894383, PMID:25741868, PMID:26133662, PMID:28492532 NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome
ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive
ClinVar PMID:8755487, PMID:9158150, PMID:9708546, PMID:12141316, PMID:12417530, PMID:17878953, PMID:18414213, PMID:19153382, PMID:19544078, PMID:20562457, PMID:21150643, PMID:21940170, PMID:22382357, PMID:24033266, PMID:24295813, PMID:25741868, PMID:26467025, PMID:27717316, PMID:28492532, PMID:29054425, PMID:29383513 NCBI chr10:57,239,993...57,240,948
Ensembl chr10:57,239,993...57,240,947
JBrowse link
G Lrp4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
JBrowse link
G Mink1 misshapen-like kinase 1 ISO ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive
ClinVar Annotator: match by term: Congenital myasthenic syndrome
ClinVar PMID:17363247 NCBI chr10:57,185,310...57,238,531
Ensembl chr10:57,185,347...57,238,531
JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive ClinVar PMID:28492532 NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes ClinVar PMID:25741868 NCBI chr 8:64,573,248...64,777,607
Ensembl chr 8:64,573,358...64,777,543
JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:8,316,861...8,346,293
Ensembl chr 6:8,318,979...8,346,197
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive
ClinVar Annotator: match by term: Congenital myasthenic syndrome
ClinVar PMID:2245297, PMID:11791205, PMID:12651869, PMID:12730725, PMID:12796535, PMID:12807980, PMID:12929188, PMID:14504330, PMID:14659409, PMID:14729848, PMID:15036330, PMID:15145336, PMID:15282317, PMID:15286164, PMID:15328566, PMID:15482960, PMID:16945936, PMID:17190963, PMID:19620612, PMID:20157724, PMID:20562457, PMID:20930056, PMID:21228398, PMID:21305573, PMID:22326364, PMID:24033266, PMID:24319099, PMID:25194721, PMID:25264167, PMID:25741868, PMID:26467025, PMID:26782015, PMID:26910802, PMID:26927095, PMID:28492532, PMID:29053879, PMID:29054425, PMID:29189923, PMID:30124556, PMID:30266223, PMID:30311386 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome
ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12766226, PMID:26659129, PMID:28492532 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:5,294,377...5,330,822
Ensembl chr 9:5,294,381...5,330,815
JBrowse link
G Snap25 synaptosome associated protein 25 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:129,697,408...129,788,417
Ensembl chr 3:129,599,353...129,788,400
JBrowse link
G Syt2 synaptotagmin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:51,569,248...51,577,824
Ensembl chr13:51,534,025...51,578,052
JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:28253535 NCBI chr 4:157,735,748...157,743,199
Ensembl chr 4:157,735,748...157,743,199
JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:28253535 NCBI chr 4:157,726,941...157,733,644
Ensembl chr 4:157,726,941...157,733,643
JBrowse link
Compton-North congenital myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntn1 contactin 1 ISO ClinVar Annotator: match by term: Myopathy, congenital, compton-north
ClinVar Annotator: match by OMIM:612540
OMIM
ClinVar
PMID:18414213, PMID:19026398, PMID:22242131, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 7:133,290,606...133,588,314
Ensembl chr 7:133,400,485...133,586,677
JBrowse link
congenital myasthenic syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 10 OMIM
ClinVar
PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
JBrowse link
congenital myasthenic syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency ClinVar
OMIM
PMID:2245297, PMID:11791205, PMID:12651869, PMID:12730725, PMID:12796535, PMID:12807980, PMID:12929188, PMID:14504330, PMID:14659409, PMID:14729848, PMID:15036330, PMID:15145336, PMID:15282317, PMID:15286164, PMID:15328566, PMID:15482960, PMID:16931511, PMID:16945936, PMID:17190963, PMID:17594401, PMID:17878953, PMID:18179903, PMID:19620612, PMID:20157724, PMID:20562457, PMID:20930056, PMID:21228398, PMID:21305573, PMID:22326364, PMID:24033266, PMID:24319099, PMID:25194721, PMID:25264167, PMID:25741868, PMID:25741902, PMID:26147564, PMID:26467025, PMID:26782015, PMID:26910802, PMID:26927095, PMID:28492532, PMID:28495245, PMID:29053879, PMID:29054425, PMID:29189923, PMID:30124556, PMID:30266223, PMID:30311386 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link
congenital myasthenic syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 12
ClinVar Annotator: match by term: Congenital myasthenic syndrome with tubular aggregates 1
ClinVar Annotator: match by OMIM:610542
OMIM
ClinVar
PMID:8664562, PMID:12467753, PMID:18414213, PMID:21310273, PMID:23488891, PMID:23794683, PMID:24033266, PMID:25741868, PMID:25765662, PMID:26467025, PMID:28464723, PMID:28492532, PMID:28712002, PMID:29054425, PMID:30635494 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
JBrowse link
congenital myasthenic syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:28492532 NCBI chr 8:48,604,915...48,626,219
Ensembl chr 8:48,606,403...48,619,592
JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:28492532 NCBI chr 8:48,641,792...48,652,119
Ensembl chr 8:48,641,801...48,652,071
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:28492532 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:28492532 NCBI chr 8:48,570,718...48,577,856
Ensembl chr 8:48,569,328...48,577,855
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO 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 OMIM:614750
OMIM
ClinVar
PMID:12872255, PMID:15771971, PMID:22304930, PMID:22492991, PMID:22742743, PMID:22786653, PMID:23249953, PMID:23430862, PMID:23591138, PMID:24759841, PMID:25500013, PMID:25741868, PMID:26033833, PMID:26467025, PMID:28492532, PMID:28662078 NCBI chr 8:48,657,779...48,664,531
Ensembl chr 8:48,657,795...48,664,860
JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:28492532 NCBI chr 8:48,626,398...48,638,012
Ensembl chr 8:48,628,340...48,634,797
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:28492532 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:28492532 NCBI chr 8:48,583,559...48,600,203
Ensembl chr 8:48,584,071...48,597,867
JBrowse link
G Pdzd3 PDZ domain containing 3 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:28492532 NCBI chr 8:48,577,905...48,582,353
Ensembl chr 8:48,577,952...48,582,353
JBrowse link
congenital myasthenic syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 3
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14
ClinVar
OMIM
PMID:12684507, PMID:23404334, PMID:25741868, PMID:28492532 NCBI chr 5:63,187,466...63,192,025
Ensembl chr 5:63,187,468...63,192,025
JBrowse link
congenital myasthenic syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, without tubular aggregates
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 15
ClinVar
OMIM
PMID:23404334, PMID:25741868, PMID:28492532, PMID:28733338 NCBI chr 2:224,851,352...224,931,461
Ensembl chr 2:224,851,383...224,931,459
JBrowse link
congenital myasthenic syndrome 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome, acetazolamide-responsive
ClinVar Annotator: match by OMIM:614198
OMIM
ClinVar
PMID:7695243, PMID:9266738, PMID:10944223, PMID:12766226, PMID:12898257, PMID:15482957, PMID:15534250, PMID:15774523, PMID:18337100, PMID:18414213, PMID:19118277, PMID:20522878, PMID:20681998, PMID:23884711, PMID:25326635, PMID:25348405, PMID:25707578, PMID:25741868, PMID:25839108, PMID:26423924, PMID:26427606, PMID:26467025, PMID:26484179, PMID:26700687, PMID:27714768, PMID:27858759, PMID:28492532, PMID:29606556 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link
congenital myasthenic syndrome 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 17 ClinVar
OMIM
PMID:24234652, PMID:25741868, PMID:28492532 NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
JBrowse link
congenital myasthenic syndrome 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 18 ClinVar
OMIM
PMID:25381298, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:129,697,408...129,788,417
Ensembl chr 3:129,599,353...129,788,400
JBrowse link
congenital myasthenic syndrome 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col13a1 collagen type XIII alpha 1 chain ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 19 OMIM
ClinVar
PMID:25741868, PMID:26626625, PMID:31081514 NCBI chr20:31,456,502...31,598,360
Ensembl chr20:31,456,852...31,598,118
JBrowse link
congenital myasthenic syndrome 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cast calpastatin ISO RGD PMID:17853947 RGD:5509810 NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: CHRNA1-Related Congenital Myasthenic Syndrome OMIM
ClinVar
PMID:25741868 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
congenital myasthenic syndrome 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 1B, fast-channel OMIM
ClinVar
PMID:7254233, PMID:10195214, PMID:12588888, PMID:15079006, PMID:18806275, PMID:28492532 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 1B, fast-channel ClinVar PMID:8755487, PMID:17878953, PMID:26467025, PMID:28492532 NCBI chr10:57,238,960...57,246,750
Ensembl chr10:57,238,946...57,243,435
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 1B, fast-channel ClinVar PMID:8755487, PMID:17878953, PMID:26467025, PMID:28492532 NCBI chr10:57,239,993...57,240,948
Ensembl chr10:57,239,993...57,240,947
JBrowse link
congenital myasthenic syndrome 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 20, presynaptic ClinVar
OMIM
PMID:25741868, PMID:27569547, PMID:28492532 NCBI chr 9:5,294,377...5,330,822
Ensembl chr 9:5,294,381...5,330,815
JBrowse link
congenital myasthenic syndrome 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 21, presynaptic
ClinVar PMID:25741868, PMID:27590285 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 21, presynaptic
ClinVar
OMIM
PMID:25741868, PMID:27590285 NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
JBrowse link
congenital myasthenic syndrome 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prepl prolyl endopeptidase-like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22 ClinVar
OMIM
PMID:15913950, PMID:22766003, PMID:22796000, PMID:22940581, PMID:23321636, PMID:23485813, PMID:23794250, PMID:24033266, PMID:24586561, PMID:24610330, PMID:25741868, PMID:28492532, PMID:28726805, PMID:29483676, PMID:29913539, PMID:32860008 NCBI chr 6:8,316,861...8,346,293
Ensembl chr 6:8,318,979...8,346,197
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22 ClinVar PMID:22796000, PMID:24610330, PMID:25741868, PMID:28492532 NCBI chr 6:8,284,937...8,318,649
Ensembl chr 6:8,284,878...8,318,674
JBrowse link
Congenital Myasthenic Syndrome 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC OMIM
ClinVar
PMID:1527857, PMID:26870663 NCBI chr11:87,204,248...87,207,265
Ensembl chr11:87,204,175...87,207,264
JBrowse link
Congenital Myasthenic Syndrome 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC ClinVar
OMIM
PMID:26752647, PMID:27259756, PMID:28492532 NCBI chr 8:64,573,248...64,777,607
Ensembl chr 8:64,573,358...64,777,543
JBrowse link
Congenital Myasthenic Syndrome 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC ClinVar PMID:28168212, PMID:28253535, PMID:28600779 NCBI chr 4:157,735,748...157,743,199
Ensembl chr 4:157,735,748...157,743,199
JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC ClinVar
OMIM
PMID:28168212, PMID:28253535, PMID:28600779 NCBI chr 4:157,726,941...157,733,644
Ensembl chr 4:157,726,941...157,733,643
JBrowse link
congenital myasthenic syndrome 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 2a, slow-channel OMIM
ClinVar
PMID:8651643, PMID:8872460, PMID:10562302, PMID:17686188, PMID:18414213, PMID:20562457, PMID:25741868, PMID:27375219, PMID:27391121, PMID:28492532 NCBI chr10:56,390,671...56,403,255
Ensembl chr10:56,390,671...56,403,188
JBrowse link
congenital myasthenic syndrome 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency ClinVar
OMIM
PMID:10562302 NCBI chr10:56,390,671...56,403,255
Ensembl chr10:56,390,671...56,403,188
JBrowse link
congenital myasthenic syndrome 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 3a, slow-channel ClinVar
OMIM
PMID:11782989, PMID:25741868, PMID:28492532 NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
JBrowse link
congenital myasthenic syndrome 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 3b, fast-channel OMIM
ClinVar
PMID:11435464, PMID:12499478, PMID:18398509, PMID:25741868 NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
JBrowse link
congenital myasthenic syndrome 3C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency ClinVar
OMIM
PMID:16916845, PMID:25741868 NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
JBrowse link
congenital myasthenic syndrome 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel
ClinVar Annotator: match by term: CONGENITAL MYASTHENIC SYNDROME TYPE Ia1
ClinVar Annotator: match by OMIM:605809
OMIM
ClinVar
PMID:3651795, PMID:7531341, PMID:7538206, PMID:7863154, PMID:8232384, PMID:8663316, PMID:8755487, PMID:8872460, PMID:8957026, PMID:9097970, PMID:9158150, PMID:9443457, PMID:9539130, PMID:9606190, PMID:9668239, PMID:9708546, PMID:10211467, PMID:10382905, PMID:10496269, PMID:10514102, PMID:10534268, PMID:11030414, PMID:11960891, PMID:12141316, PMID:12417530, PMID:12536367, PMID:14592868, PMID:15322984, PMID:15367858, PMID:15951177, PMID:16087917, PMID:16198106, PMID:17878953, PMID:18414213, PMID:19064877, PMID:19153382, PMID:19289485, PMID:19544078, PMID:20562457, PMID:21175599, PMID:21520333, PMID:21822932, PMID:21940170, PMID:22382357, PMID:22678886, PMID:22865819, PMID:24033266, PMID:24295813, PMID:25326635, PMID:25741868, PMID:26467025, PMID:27634344, PMID:27779167, PMID:28024842, PMID:28464723, PMID:28492532, PMID:29054425, PMID:29383513, PMID:30124556 NCBI chr10:57,238,960...57,246,750
Ensembl chr10:57,238,946...57,243,435
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:28492532 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Myasthenia, familial infantile, 1
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel
ClinVar Annotator: match by term: CONGENITAL MYASTHENIC SYNDROME TYPE Ia1
ClinVar PMID:3651795, PMID:7531341, PMID:7538206, PMID:7863154, PMID:8232384, PMID:8755487, PMID:8872460, PMID:9158150, PMID:9708546, PMID:12141316, PMID:12417530, PMID:12536367, PMID:14592868, PMID:16198106, PMID:17878953, PMID:18414213, PMID:19153382, PMID:19289485, PMID:19544078, PMID:20562457, PMID:21520333, PMID:21822932, PMID:21940170, PMID:22382357, PMID:22678886, PMID:24033266, PMID:24295813, PMID:25741868, PMID:26467025, PMID:27779167, PMID:28464723, PMID:28492532, PMID:29054425, PMID:29383513, PMID:30124556 NCBI chr10:57,239,993...57,240,948
Ensembl chr10:57,239,993...57,240,947
JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:28492532 NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:28492532 NCBI chr10:57,268,331...57,272,667
Ensembl chr10:57,268,375...57,272,660
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:28492532 NCBI chr10:57,265,903...57,268,018
Ensembl chr10:57,265,704...57,268,081
JBrowse link
congenital myasthenic syndrome 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel OMIM
ClinVar
PMID:8232384, PMID:8755487, PMID:9097970, PMID:9158150, PMID:9668239, PMID:10496269, PMID:10514102, PMID:10534268, PMID:10962020, PMID:15322984, PMID:15367858, PMID:22592360, PMID:25326635, PMID:25741868, PMID:26467025, PMID:27634344, PMID:28492532 NCBI chr10:57,238,960...57,246,750
Ensembl chr10:57,238,946...57,243,435
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel ClinVar PMID:8232384, PMID:8755487, PMID:9158150, PMID:22592360, PMID:25741868, PMID:28492532 NCBI chr10:57,239,993...57,240,948
Ensembl chr10:57,239,993...57,240,947
JBrowse link
congenital myasthenic syndrome 4C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency ClinVar PMID:25741868 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C
ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr10:56,390,671...56,403,255
Ensembl chr10:56,390,671...56,403,188
JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
ClinVar Annotator: match by OMIM:608931
OMIM
ClinVar
PMID:8755487, PMID:8957026, PMID:9097970, PMID:9158150, PMID:9443457, PMID:9668239, PMID:10211467, PMID:10496269, PMID:10514102, PMID:10534268, PMID:11030414, PMID:12417530, PMID:15322984, PMID:15367858, PMID:15951177, PMID:16087917, PMID:16550914, PMID:17878953, PMID:19064877, PMID:19544078, PMID:21175599, PMID:21940170, PMID:24033266, PMID:24295813, PMID:25326635, PMID:25741868, PMID:26467025, PMID:27634344, PMID:28024842, PMID:28492532, PMID:29054425 NCBI chr10:57,238,960...57,246,750
Ensembl chr10:57,238,946...57,243,435
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency ClinVar PMID:8755487, PMID:9158150, PMID:11030414, PMID:12417530, PMID:16087917, PMID:17878953, PMID:19544078, PMID:21940170, PMID:24033266, PMID:24295813, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr10:57,239,993...57,240,948
Ensembl chr10:57,239,993...57,240,947
JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C
ClinVar PMID:25695962, PMID:25741868, PMID:25900532, PMID:28492532 NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C
ClinVar PMID:11791205, PMID:12651869, PMID:12730725, PMID:12796535, PMID:12807980, PMID:12929188, PMID:14504330, PMID:14659409, PMID:14729848, PMID:15036330, PMID:15286164, PMID:15328566, PMID:15482960, PMID:16945936, PMID:17190963, PMID:19620612, PMID:20157724, PMID:20562457, PMID:20930056, PMID:21228398, PMID:21305573, PMID:24033266, PMID:24319099, PMID:25194721, PMID:25264167, PMID:25741868, PMID:26467025, PMID:26782015, PMID:26910802, PMID:26927095, PMID:28492532, PMID:29053879, PMID:29054425, PMID:29189923, PMID:30124556, PMID:30266223, PMID:30311386 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link
congenital myasthenic syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: Endplate acetylcholinesterase deficiency
ClinVar Annotator: match by OMIM:603034
CTD Direct Evidence: marker/mechanism|therapeutic
OMIM
ClinVar
CTD
PMID:214017, PMID:9689136, PMID:9758617, PMID:10441569, PMID:10665486, PMID:11865139, PMID:14702351, PMID:15248101, PMID:18180250, PMID:18414213, PMID:18567859, PMID:21952943, PMID:22088788, PMID:22490774, PMID:22678886, PMID:22981737, PMID:23108489, PMID:23553736, PMID:24033266, PMID:24281389, PMID:25557462, PMID:25741868, PMID:26467025, PMID:27830186, PMID:28024842, PMID:28492532, PMID:29395675, PMID:30124556 NCBI chr16:7,626,380...7,681,621
Ensembl chr16:7,627,603...7,681,576
JBrowse link
congenital myasthenic syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chat choline O-acetyltransferase susceptibility ISO DNA:frameshift mutation, missense mutations (human)
ClinVar Annotator: match by term: Familial infantile myasthenia
ClinVar Annotator: match by OMIM:254210
ClinVar
OMIM
PMID:7616604, PMID:11172068, PMID:12756141, PMID:15381704, PMID:15701560, PMID:18414213, PMID:19520274, PMID:19900826, PMID:21786365, PMID:21948486, PMID:24033266, PMID:25741868, PMID:26080897, PMID:26467025, PMID:26789281, PMID:28492532, PMID:28497657, PMID:29189923, PMID:11172068 RGD:1600831 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
JBrowse link
congenital myasthenic syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 7, presynaptic
ClinVar
OMIM
PMID:25192047, PMID:25741868 NCBI chr13:51,569,248...51,577,824
Ensembl chr13:51,534,025...51,578,052
JBrowse link
congenital myasthenic syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,340,060...173,354,756
Ensembl chr 5:173,340,060...173,354,755
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar
OMIM
PMID:18414213, PMID:19631309, PMID:22205389, PMID:24951643, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 5:173,589,910...173,622,813
Ensembl chr 5:173,589,819...173,622,645
JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,237,642...173,239,899
Ensembl chr 5:173,237,642...173,239,899
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768
JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,274,433...173,276,170
Ensembl chr 5:173,256,637...173,276,169
JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611
JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,390,901...173,395,276
Ensembl chr 5:173,390,901...173,395,276
JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,256,301...173,268,279
Ensembl chr 5:173,256,637...173,276,169
JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,051,900...173,078,049
Ensembl chr 5:173,052,063...173,078,046
JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:172,817,221...172,884,996
Ensembl chr 5:172,825,072...172,858,053
JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,314,219...173,318,384
Ensembl chr 5:173,314,228...173,318,313
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:172,648,171...172,655,576
Ensembl chr 5:172,648,950...172,655,576
JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,139,345...173,141,564 JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,318,435...173,336,930
Ensembl chr 5:173,318,479...173,336,930
JBrowse link
G Mib2 mindbomb E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,082,943...173,099,353
Ensembl chr 5:173,082,943...173,098,816
JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,489,366...173,489,454 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,490,144...173,490,238
Ensembl chr 5:173,490,144...173,490,238
JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,488,331...173,488,415
Ensembl chr 5:173,488,331...173,488,415
JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,078,811...173,082,834
Ensembl chr 5:173,078,590...173,081,839
JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,248,245...173,252,775
Ensembl chr 5:173,248,245...173,252,775
JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,288,200...173,292,926
Ensembl chr 5:173,288,447...173,292,929
JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:172,984,930...173,015,505
Ensembl chr 5:172,986,291...173,015,494
JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:172,658,071...172,769,492
Ensembl chr 5:172,658,748...172,769,421
JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,326,755...173,339,934
Ensembl chr 5:173,336,034...173,340,026
JBrowse link
G RGD1311517 similar to RIKEN cDNA 9430015G10 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,542,058...173,559,761
Ensembl chr 5:173,542,358...173,559,761
JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,561,016...173,566,844 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,425,922...173,444,478
Ensembl chr 5:173,425,907...173,444,620
JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899
JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,024,335...173,050,228
Ensembl chr 5:173,024,335...173,046,194
JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,152,964...173,182,720
Ensembl chr 5:173,152,964...173,182,719
JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,307,325...173,312,950
Ensembl chr 5:173,308,870...173,312,023
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,182,815...173,189,683
Ensembl chr 5:173,183,990...173,188,924
JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:172,887,587...172,889,349
Ensembl chr 5:172,887,217...172,889,383
JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,230,364...173,233,188
Ensembl chr 5:173,230,364...173,233,188
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,471,020...173,517,783
Ensembl chr 5:173,471,010...173,484,986
JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,372,659...173,387,084
Ensembl chr 5:173,372,669...173,387,104
JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643, PMID:28492532 NCBI chr 5:173,216,737...173,221,923
Ensembl chr 5:173,216,741...173,222,440
JBrowse link
congenital myasthenic syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency ClinVar
OMIM
PMID:15184594, PMID:15496425, PMID:18414213, PMID:19949040, PMID:20371544, PMID:23326516, PMID:24122059, PMID:25262156, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30429133, PMID:30719842 NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
JBrowse link
Congenital Myasthenic Syndrome, Fast-Channel term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:57,238,960...57,246,750
Ensembl chr10:57,238,946...57,243,435
JBrowse link
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:56,390,671...56,403,255
Ensembl chr10:56,390,671...56,403,188
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          congenital myasthenic syndrome 87
            Compton-North congenital myopathy 1
            Congenital Myasthenia, Refractory to Acetylcholinesterase Inhibitors 0
            Congenital Myasthenic Syndrome 23 1
            Congenital Myasthenic Syndrome 24 1
            Congenital Myasthenic Syndrome 25 2
            Congenital Myasthenic Syndrome, Fast-Channel + 4
            Congenital Myasthenic Syndrome, with Facial Dysmorphism 0
            Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency + 4
            Limb-Girdle Myasthenia, Autoimmune 0
            Limb-Girdle Myasthenia, with Tubular Aggregates 0
            congenital myasthenic syndrome 10 1
            congenital myasthenic syndrome 11 1
            congenital myasthenic syndrome 12 1
            congenital myasthenic syndrome 13 9
            congenital myasthenic syndrome 14 1
            congenital myasthenic syndrome 15 1
            congenital myasthenic syndrome 16 1
            congenital myasthenic syndrome 17 1
            congenital myasthenic syndrome 18 1
            congenital myasthenic syndrome 19 1
            congenital myasthenic syndrome 1A 2
            congenital myasthenic syndrome 20 1
            congenital myasthenic syndrome 21 2
            congenital myasthenic syndrome 22 2
            congenital myasthenic syndrome 2A 1
            congenital myasthenic syndrome 2C 1
            congenital myasthenic syndrome 3A 1
            congenital myasthenic syndrome 3B 1
            congenital myasthenic syndrome 3C 1
            congenital myasthenic syndrome 4A 6
            congenital myasthenic syndrome 4C 7
            congenital myasthenic syndrome 5 1
            congenital myasthenic syndrome 6 2
            congenital myasthenic syndrome 7 1
            congenital myasthenic syndrome 8 42
            congenital myasthenic syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              neuromuscular junction disease 114
                congenital myasthenic syndrome 87
                  Compton-North congenital myopathy 1
                  Congenital Myasthenia, Refractory to Acetylcholinesterase Inhibitors 0
                  Congenital Myasthenic Syndrome 23 1
                  Congenital Myasthenic Syndrome 24 1
                  Congenital Myasthenic Syndrome 25 2
                  Congenital Myasthenic Syndrome, Fast-Channel + 4
                  Congenital Myasthenic Syndrome, with Facial Dysmorphism 0
                  Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency + 4
                  Limb-Girdle Myasthenia, Autoimmune 0
                  Limb-Girdle Myasthenia, with Tubular Aggregates 0
                  congenital myasthenic syndrome 10 1
                  congenital myasthenic syndrome 11 1
                  congenital myasthenic syndrome 12 1
                  congenital myasthenic syndrome 13 9
                  congenital myasthenic syndrome 14 1
                  congenital myasthenic syndrome 15 1
                  congenital myasthenic syndrome 16 1
                  congenital myasthenic syndrome 17 1
                  congenital myasthenic syndrome 18 1
                  congenital myasthenic syndrome 19 1
                  congenital myasthenic syndrome 1A 2
                  congenital myasthenic syndrome 20 1
                  congenital myasthenic syndrome 21 2
                  congenital myasthenic syndrome 22 2
                  congenital myasthenic syndrome 2A 1
                  congenital myasthenic syndrome 2C 1
                  congenital myasthenic syndrome 3A 1
                  congenital myasthenic syndrome 3B 1
                  congenital myasthenic syndrome 3C 1
                  congenital myasthenic syndrome 4A 6
                  congenital myasthenic syndrome 4C 7
                  congenital myasthenic syndrome 5 1
                  congenital myasthenic syndrome 6 2
                  congenital myasthenic syndrome 7 1
                  congenital myasthenic syndrome 8 42
                  congenital myasthenic syndrome 9 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.