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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 neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). (DO)
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
 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 IAGP
EXP
ClinVar Annotator: match by term: Congenital myasthenic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
CTD
PMID:19631309 PMID:22205389 PMID:24951643 PMID:28492532 PMID:30994901 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118
JBrowse link
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951
JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942
JBrowse link
G C17orf107 chromosome 17 open reading frame 107 IAGP 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
ClinVar PMID:8755487 PMID:9158150 PMID:9536098 PMID:9539130 PMID:9708546 More... NCBI chr17:4,899,536...4,906,715
Ensembl chr17:4,899,418...4,902,934
JBrowse link
G CHAT choline O-acetyltransferase IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:11172068 PMID:21786365 PMID:24033266 PMID:26080897 PMID:28492532 More... NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP 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
ClinVar PMID:9221765 PMID:24033266 PMID:25450229 PMID:25741868 PMID:26467025 More... NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP
EXP
ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710
JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP
EXP
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 More... NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP 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
ClinVar PMID:8755487 PMID:8957026 PMID:9097970 PMID:9158150 PMID:9443457 More... NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP
EXP
ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive
ClinVar Annotator: match by term: Congenital myasthenic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16826520 PMID:25741868 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
JBrowse link
G COL13A1 collagen type XIII alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275
JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase IAGP ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive
ClinVar Annotator: match by term: Congenital myasthenic syndrome
ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital
ClinVar PMID:9689136 PMID:9758617 PMID:15159418 PMID:22678886 PMID:22960500 More... NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751
JBrowse link
G DOK7 docking protein 7 IAGP ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial ClinVar PMID:2261499 PMID:16917026 PMID:17439981 PMID:17452375 PMID:18161030 More... NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473
JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 IAGP
EXP
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:25741868 PMID:28492532 PMID:29905857 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250
JBrowse link
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive
ClinVar Annotator: match by term: Congenital myasthenic syndrome
ClinVar PMID:12766226 PMID:26659129 PMID:28492532 NCBI chr17:63,917,193...63,958,852 JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes ClinVar PMID:25741868 PMID:28544784 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312
JBrowse link
G LRP4 LDL receptor related protein 4 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642
JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial ClinVar PMID:25326637 PMID:27408822 PMID:28492532 NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226
JBrowse link
G MINK1 misshapen like kinase 1 IAGP ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive
ClinVar Annotator: match by term: Congenital myasthenic syndrome
ClinVar PMID:17363247 NCBI chr17:4,833,340...4,898,061
Ensembl chr17:4,833,340...4,898,061
JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive ClinVar PMID:28492532 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
JBrowse link
G MYO9A myosin IXA IAGP ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes ClinVar PMID:25741868 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577
JBrowse link
G PREPL prolyl endopeptidase like EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862
JBrowse link
G RAPSN receptor associated protein of the synapse IAGP 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 More... NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP
EXP
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:12766226 PMID:26659129 PMID:28492532 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
JBrowse link
G SLC18A3 solute carrier family 18 member A3 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
JBrowse link
G SLC5A7 solute carrier family 5 member 7 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994
JBrowse link
G SNAP25 synaptosome associated protein 25 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258
JBrowse link
G SYT2 synaptotagmin 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454
JBrowse link
G TAPBPL TAP binding protein like IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:28253535 NCBI chr12:6,451,649...6,472,006
Ensembl chr12:6,451,690...6,466,517
JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:28253535 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677
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 IAGP ClinVar Annotator: match by term: Myopathy, congenital, compton-north
ClinVar Annotator: match by term: Compton-North congenital myopathy
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19026398 PMID:22242131 More... NCBI chr12:40,692,439...41,072,415
Ensembl chr12:40,692,439...41,072,415
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 IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 10
ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 10
OMIM
ClinVar
PMID:2261499 PMID:16794080 PMID:16917026 PMID:17439981 PMID:17452375 More... NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473
JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 ClinVar PMID:25326637 PMID:27408822 PMID:28492532 NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226
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 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
ClinVar Annotator: match by term: Congenital myasthenic syndrome 11
ClinVar
OMIM
PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
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 IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome with tubular aggregates 1
ClinVar Annotator: match by term: Congenital myasthenic syndrome 12
ClinVar
OMIM
PMID:8664562 PMID:9536098 PMID:12467753 PMID:16199547 PMID:17576681 More... NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250
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 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2
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 ARCN1 archain 1 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033
JBrowse link
G ATP5MG ATP synthase membrane subunit g IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,401,606...118,409,847
Ensembl chr11:118,401,346...118,433,278
JBrowse link
G BCL9L BCL9 like IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,896,136...118,925,926
Ensembl chr11:118,893,875...118,925,926
JBrowse link
G C2CD2L C2CD2 like IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2
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 CBL Cbl proto-oncogene IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2
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 CCDC153 coiled-coil domain containing 153 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2
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 CD3D CD3 delta subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705
JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175
JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161
JBrowse link
G CENATAC centrosomal AT-AC splicing factor IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,998,138...119,015,793
Ensembl chr11:118,998,138...119,015,793
JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,883,892...118,897,787
Ensembl chr11:118,883,892...118,897,787
JBrowse link
G DDX6 DEAD-box helicase 6 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164
JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates
ClinVar Annotator: match by term: Congenital myasthenic syndrome 13
ClinVar
OMIM
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 FOXR1 forkhead box R1 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,971,761...118,981,287
Ensembl chr11:118,971,712...118,981,287
JBrowse link
G H2AX H2A.X variant histone IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:119,093,874...119,095,465
Ensembl chr11:119,093,874...119,095,465
JBrowse link
G HINFP histone H4 transcription factor IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2
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 HMBS hydroxymethylbilane synthase IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2
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 HYOU1 hypoxia up-regulated 1 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:119,044,188...119,057,205
Ensembl chr11:119,044,188...119,057,227
JBrowse link
G IFT46 intraflagellar transport 46 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,544,543...118,576,898
Ensembl chr11:118,544,528...118,572,970
JBrowse link
G JAML junction adhesion molecule like IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,193,725...118,225,011
Ensembl chr11:118,193,725...118,225,094
JBrowse link
G KMT2A lysine methyltransferase 2A IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
JBrowse link
G MPZL2 myelin protein zero like 2 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,253,416...118,264,297
Ensembl chr11:118,253,416...118,264,536
JBrowse link
G MPZL3 myelin protein zero like 3 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,226,690...118,252,365
Ensembl chr11:118,226,690...118,252,365
JBrowse link
G NLRX1 NLR family member X1 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2
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
G PDZD3 PDZ domain containing 3 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2
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 PHLDB1 pleckstrin homology like domain family B member 1 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,606,436...118,658,028
Ensembl chr11:118,606,440...118,658,031
JBrowse link
G RPS25 ribosomal protein S25 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:119,015,717...119,018,343
Ensembl chr11:119,015,712...119,018,691
JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,162,806...118,176,639
JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888
JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,024,114...119,030,906
JBrowse link
G TMEM25 transmembrane protein 25 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,531,192...118,547,286
Ensembl chr11:118,531,041...118,547,280
JBrowse link
G TRAPPC4 trafficking protein particle complex subunit 4 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:119,018,766...119,024,134
Ensembl chr11:119,018,763...119,025,454
JBrowse link
G TREH trehalase IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,657,316...118,679,650
Ensembl chr11:118,657,316...118,679,690
JBrowse link
G TTC36 tetratricopeptide repeat domain 36 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,527,474...118,530,993
Ensembl chr11:118,527,472...118,531,197
JBrowse link
G UBE4A ubiquitination factor E4A IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,359,600...118,399,211
Ensembl chr11:118,359,600...118,399,211
JBrowse link
G UPK2 uroplakin 2 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:118,956,298...118,958,559
Ensembl chr11:118,925,164...118,958,559
JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972
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 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 3
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates
ClinVar Annotator: match by term: Congenital myasthenic syndrome 14
ClinVar
OMIM
PMID:12684507 PMID:23404334 PMID:25741868 PMID:28492532 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942
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 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, without tubular aggregates
ClinVar Annotator: match by term: Congenital myasthenic syndrome 15
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 15
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:23404334 PMID:25741868 PMID:28492532 More... NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951
JBrowse link
G ALG14-AS1 ALG14 antisense RNA 1 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 15
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, without tubular aggregates
ClinVar PMID:9536098 PMID:17576681 PMID:23404334 PMID:25741868 PMID:28492532 More... NCBI chr 1:95,061,596...95,067,545
Ensembl chr 1:95,061,596...95,067,545
JBrowse link
congenital myasthenic syndrome 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome, acetazolamide-responsive
ClinVar Annotator: match by term: Congenital myasthenic syndrome 16
ClinVar PMID:7695243 PMID:9266738 PMID:12766226 PMID:12898257 PMID:15534250 More... NCBI chr17:63,917,193...63,958,852 JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome, acetazolamide-responsive
ClinVar Annotator: match by term: Congenital myasthenic syndrome 16
ClinVar
OMIM
PMID:7695243 PMID:9266738 PMID:12766226 PMID:12898257 PMID:15534250 More... NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
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 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 17 OMIM
ClinVar
PMID:24234652 PMID:25741868 PMID:28492532 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642
JBrowse link
G LRP4-AS1 LRP4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 17 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:46,846,411...46,874,416
Ensembl chr11:46,846,410...46,874,421
JBrowse link
congenital myasthenic syndrome 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKEF1 ankyrin repeat and EF-hand domain containing 1 IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chr20:10,034,987...10,058,303
Ensembl chr20:9,986,126...10,058,303
JBrowse link
G HAO1 hydroxyacid oxidase 1 IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chr20:7,882,985...7,940,458
Ensembl chr20:7,882,985...7,940,458
JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
JBrowse link
G LAMP5 lysosomal associated membrane protein family member 5 IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chr20:9,514,590...9,530,524
Ensembl chr20:9,514,358...9,530,524
JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
JBrowse link
G PAK5 p21 (RAC1) activated kinase 5 IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chr20:9,537,370...9,839,076
Ensembl chr20:9,537,370...9,839,076
JBrowse link
G PLCB1 phospholipase C beta 1 IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360
JBrowse link
G PLCB4 phospholipase C beta 4 IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593
JBrowse link
G SLX4IP SLX4 interacting protein IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chr20:10,435,305...10,628,030
Ensembl chr20:10,435,305...10,636,829
JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 18
ClinVar Annotator: match by term: Congenital myasthenic syndrome 18
ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:25381298 PMID:25741868 PMID:26467025 More... NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258
JBrowse link
G TMX4 thioredoxin related transmembrane protein 4 IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chr20:7,977,346...8,019,761
Ensembl chr20:7,977,346...8,019,805
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 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 19
ClinVar Annotator: match by term: Congenital myasthenic syndrome 19
ClinVar
OMIM
PMID:16199547 PMID:25741868 PMID:26626625 PMID:28492532 PMID:30767057 More... NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275
JBrowse link
congenital myasthenic syndrome 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C17orf107 chromosome 17 open reading frame 107 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel ClinVar PMID:9708546 PMID:20301347 PMID:20562457 PMID:22678886 PMID:24033266 More... NCBI chr17:4,899,536...4,906,715
Ensembl chr17:4,899,418...4,902,934
JBrowse link
G CAST calpastatin IMP RGD PMID:17853947 RGD:5509810 NCBI chr 5:96,662,037...96,774,683
Ensembl chr 5:96,525,267...96,779,595
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A
ClinVar Annotator: match by term: CHRNA1-Related Congenital Myasthenic Syndrome
OMIM
ClinVar
PMID:3651795 PMID:6287911 PMID:7619526 PMID:7863154 PMID:8872460 More... NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel ClinVar PMID:9708546 PMID:20301347 PMID:20562457 PMID:22678886 PMID:24033266 More... NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
JBrowse link
congenital myasthenic syndrome 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C17orf107 chromosome 17 open reading frame 107 IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 1B, fast-channel ClinVar PMID:8755487 PMID:17878953 PMID:26467025 PMID:28492532 NCBI chr17:4,899,536...4,906,715
Ensembl chr17:4,899,418...4,902,934
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 1B, fast-channel OMIM
ClinVar
PMID:7254233 PMID:10195214 PMID:12588888 PMID:15079006 PMID:18806275 More... NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 1B, fast-channel ClinVar PMID:8755487 PMID:17878953 PMID:26467025 PMID:28492532 NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
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 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 20, presynaptic ClinVar
OMIM
PMID:25741868 PMID:27569547 PMID:28492532 NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994
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 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 21, presynaptic
ClinVar Annotator: match by term: Congenital myasthenic syndrome 21
ClinVar PMID:25741868 PMID:27590285 PMID:28492532 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 21
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 21, presynaptic
OMIM
ClinVar
PMID:25741868 PMID:27590285 PMID:28492532 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
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 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22 ClinVar
OMIM
PMID:9536098 PMID:10737983 PMID:16199547 PMID:17576681 PMID:19782624 More... NCBI chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862
JBrowse link
G SLC3A1 solute carrier family 3 member 1 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22 ClinVar PMID:9536098 PMID:10737983 PMID:17576681 PMID:19782624 PMID:22796000 More... NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494
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 IAGP ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC OMIM
ClinVar
PMID:26870663 PMID:31527857 PMID:31808147 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739
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 IAGP ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 24, presynaptic
ClinVar
OMIM
PMID:25741868 PMID:26752647 PMID:27259756 PMID:28492532 PMID:30237576 More... NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577
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 IAGP ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 25, presynaptic
ClinVar PMID:28168212 PMID:28253535 PMID:28492532 PMID:28600779 NCBI chr12:6,451,649...6,472,006
Ensembl chr12:6,451,690...6,466,517
JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 25, presynaptic
ClinVar
OMIM
PMID:28168212 PMID:28253535 PMID:28492532 PMID:28600779 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677
JBrowse link
congenital myasthenic syndrome 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP ClinVar Annotator: match by term: CMS IIa ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 2a, slow-channel
OMIM
ClinVar
PMID:8651643 PMID:8872460 PMID:9536098 PMID:10562302 PMID:17576681 More... NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710
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 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency ClinVar
OMIM
PMID:10562302 PMID:25741868 NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710
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 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 3a, slow-channel ClinVar
OMIM
PMID:11782989 PMID:25264167 PMID:25741868 PMID:28492532 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667
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 IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 3B
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 3b, fast-channel
OMIM
ClinVar
PMID:11435464 PMID:12499478 PMID:16199547 PMID:18398509 PMID:25264167 More... NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667
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 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency OMIM
ClinVar
PMID:16916845 PMID:25741868 PMID:28492532 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667
JBrowse link
congenital myasthenic syndrome 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C17orf107 chromosome 17 open reading frame 107 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel
ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A
ClinVar Annotator: match by term: CONGENITAL MYASTHENIC SYNDROME TYPE Ia1
ClinVar PMID:3651795 PMID:7531341 PMID:7538206 PMID:7863154 PMID:8232384 More... NCBI chr17:4,899,536...4,906,715
Ensembl chr17:4,899,418...4,902,934
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel
ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A
ClinVar Annotator: match by term: CONGENITAL MYASTHENIC SYNDROME TYPE Ia1
ClinVar
OMIM
PMID:3651795 PMID:7531341 PMID:7538206 PMID:7863154 PMID:8232384 More... NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:28492532 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
JBrowse link
G PFN1 profilin 1 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:28492532 NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061
JBrowse link
G RNF167 ring finger protein 167 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:28492532 NCBI chr17:4,940,092...4,945,222
Ensembl chr17:4,940,008...4,945,222
JBrowse link
G SLC25A11 solute carrier family 25 member 11 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:28492532 NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053
JBrowse link
congenital myasthenic syndrome 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C17orf107 chromosome 17 open reading frame 107 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel
ClinVar Annotator: match by term: Congenital myasthenic syndrome 4B
ClinVar PMID:8232384 PMID:8663316 PMID:8755487 PMID:9158150 PMID:9606190 More... NCBI chr17:4,899,536...4,906,715
Ensembl chr17:4,899,418...4,902,934
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 4B
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel
OMIM
ClinVar
PMID:8232384 PMID:8663316 PMID:8755487 PMID:9097970 PMID:9158150 More... NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
JBrowse link
congenital myasthenic syndrome 4C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASL argininosuccinate lyase IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C ClinVar PMID:25741868 PMID:34008892 NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697
JBrowse link
G C17orf107 chromosome 17 open reading frame 107 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C
ClinVar Annotator: match by term: CMS1d
ClinVar PMID:8755487 PMID:9158150 PMID:9536098 PMID:9708546 PMID:10211467 More... NCBI chr17:4,899,536...4,906,715
Ensembl chr17:4,899,418...4,902,934
JBrowse link
G CHAT choline O-acetyltransferase IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency ClinVar PMID:25741868 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C
ClinVar PMID:10562302 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C
ClinVar Annotator: match by term: CMS1d
ClinVar
OMIM
PMID:8755487 PMID:8957026 PMID:9097970 PMID:9158150 PMID:9443457 More... NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250
JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C
ClinVar PMID:16199547 PMID:25695962 PMID:25741868 PMID:25900532 PMID:28492532 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
JBrowse link
G RAPSN receptor associated protein of the synapse IAGP 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 More... NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
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 IAGP
EXP
ClinVar Annotator: match by term: Endplate acetylcholinesterase deficiency
ClinVar Annotator: match by term: Congenital myasthenic syndrome 5
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar
CTD
OMIM
PMID:214017 PMID:9536098 PMID:9689136 PMID:9758617 PMID:10441569 More... NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751
JBrowse link
G HACL1 2-hydroxyacyl-CoA lyase 1 ISO Myasthenic syndrome, congenital, COLQ-related OMIA PMID:25166616 PMID:31769119 PMID:32668077 NCBI chr 3:15,560,699...15,601,569
Ensembl chr 3:15,560,699...15,601,852
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 IAGP DNA:frameshift mutation, missense mutations
ClinVar Annotator: match by term: Familial infantile myasthenia
ClinVar
OMIM
RGD
PMID:7616604 PMID:9073174 PMID:9536098 PMID:11172068 PMID:12548525 More... RGD:1600831 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
JBrowse link
G LOC107303340 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 PMID:8730290 More... NCBI chr 3:10,142,339...10,160,352 JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar PMID:12548525 PMID:21786365 PMID:21948486 PMID:23292760 PMID:25741868 More... NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 PMID:8730290 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
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 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy
ClinVar Annotator: match by term: Congenital myasthenic syndrome 7
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 7, presynaptic
ClinVar
OMIM
PMID:25192047 PMID:25741868 PMID:26519543 PMID:28492532 PMID:28953919 More... NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454
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 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,292,391...1,307,930
Ensembl chr 1:1,292,390...1,309,609
JBrowse link
G AGRN agrin IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar Annotator: match by term: Congenital myasthenic syndrome 8
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19631309 More... NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118
JBrowse link
G AL390719.1 protein tyrosine phosphatase family pseudogene IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,059,734...1,066,453
Ensembl chr 1:1,059,708...1,069,355
JBrowse link
G ANKRD65 ankyrin repeat domain 65 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,418,420...1,421,276
Ensembl chr 1:1,418,420...1,421,769
JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685
JBrowse link
G ATAD3B ATPase family AAA domain containing 3B IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,471,765...1,509,466
Ensembl chr 1:1,471,765...1,497,848
JBrowse link
G ATAD3C ATPase family AAA domain containing 3C IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,449,689...1,470,163
Ensembl chr 1:1,449,689...1,470,163
JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,373,736...1,375,207
Ensembl chr 1:1,373,730...1,375,207
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G C1orf159 chromosome 1 open reading frame 159 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,081,823...1,116,089
Ensembl chr 1:1,081,818...1,116,361
JBrowse link
G C1QTNF12 C1q and TNF related 12 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,242,453...1,247,280
Ensembl chr 1:1,242,446...1,246,722
JBrowse link
G CALML6 calmodulin like 6 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,915,260...1,917,296
Ensembl chr 1:1,915,108...1,917,296
JBrowse link
G CCNL2 cyclin L2 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,385,711...1,399,335
Ensembl chr 1:1,385,711...1,399,335
JBrowse link
G CDK11A cyclin dependent kinase 11A IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,702,379...1,724,357
Ensembl chr 1:1,702,379...1,724,357
JBrowse link
G CDK11B cyclin dependent kinase 11B IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,635,225...1,659,004
Ensembl chr 1:1,635,225...1,659,012
JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837
JBrowse link
G CPTP ceramide-1-phosphate transfer protein IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,324,802...1,328,896
Ensembl chr 1:1,324,756...1,328,896
JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
JBrowse link
G FAAP20 FA core complex associated protein 20 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:2,184,477...2,212,720
Ensembl chr 1:2,184,461...2,212,720
JBrowse link
G FNDC10 fibronectin type III domain containing 10 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,598,012...1,600,135
Ensembl chr 1:1,598,012...1,600,135
JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,891,117
JBrowse link
G HES4 hes family bHLH transcription factor 4 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:28492532 NCBI chr 1:998,964...1,000,097
Ensembl chr 1:998,962...1,000,172
JBrowse link
G INTS11 integrator complex subunit 11 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687
JBrowse link
G ISG15 ISG15 ubiquitin like modifier IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:28492532 NCBI chr 1:1,013,497...1,014,540
Ensembl chr 1:1,001,138...1,014,540
JBrowse link
G KLHL17 kelch like family member 17 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:28492532 NCBI chr 1:960,584...965,719
Ensembl chr 1:960,584...965,719
JBrowse link
G LINC01342 long intergenic non-protein coding RNA 1342 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,137,017...1,144,056
Ensembl chr 1:1,137,017...1,144,056
JBrowse link
G LINC01786 long intergenic non-protein coding RNA 1786 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,274,002...1,279,447
Ensembl chr 1:1,275,223...1,280,420
JBrowse link
G LOC105378948 uncharacterized LOC105378948 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,065,635...1,069,337 JBrowse link
G LOC106783496 conserved acetylation island sequence 30 enhancer IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,069,212...1,069,326 JBrowse link
G LOC110599576 CEB15 minisatellite repeat instability region IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,287,380...1,291,600 JBrowse link
G LOC112577469 Sharpr-MPRA regulatory region 13538 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,112,509...1,112,803 JBrowse link
G LOC115801415 CRISPRi-validated cis-regulatory element chr1.97 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,134,850...1,135,934 JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,613,731...1,630,605
Ensembl chr 1:1,615,454...1,630,605
JBrowse link
G MIR200A microRNA 200a IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,167,863...1,167,952
Ensembl chr 1:1,167,863...1,167,952
JBrowse link
G MIR200B microRNA 200b IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198
JBrowse link
G MIR429 microRNA 429 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,169,005...1,169,087
Ensembl chr 1:1,169,005...1,169,087
JBrowse link
G MIR6726 microRNA 6726 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,296,110...1,296,170
Ensembl chr 1:1,296,110...1,296,170
JBrowse link
G MIR6727 microRNA 6727 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,312,502...1,312,566
Ensembl chr 1:1,312,502...1,312,566
JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,401,909...1,407,293
Ensembl chr 1:1,401,909...1,407,293
JBrowse link
G MXRA8 matrix remodeling associated 8 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,352,689...1,363,541
Ensembl chr 1:1,352,689...1,361,777
JBrowse link
G NADK NAD kinase IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,751,232...1,780,514
Ensembl chr 1:1,751,232...1,780,457
JBrowse link
G NOC2L NOC2 like nucleolar associated transcriptional repressor IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:28492532 NCBI chr 1:944,203...959,256
Ensembl chr 1:944,203...959,309
JBrowse link
G PLEKHN1 pleckstrin homology domain containing N1 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:28492532 NCBI chr 1:966,482...975,865
Ensembl chr 1:966,482...975,865
JBrowse link
G PRKCZ protein kinase C zeta IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
JBrowse link
G PUSL1 pseudouridine synthase like 1 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,308,597...1,311,677
Ensembl chr 1:1,308,597...1,311,677
JBrowse link
G RNF223 ring finger protein 223 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,070,967...1,074,306
Ensembl chr 1:1,070,967...1,074,306
JBrowse link
G SAMD11 sterile alpha motif domain containing 11 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:28492532 NCBI chr 1:923,923...944,574
Ensembl chr 1:923,923...944,575
JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,280,436...1,292,025
Ensembl chr 1:1,280,436...1,292,029
JBrowse link
G SDF4 stromal cell derived factor 4 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,216,931...1,232,001
Ensembl chr 1:1,216,909...1,232,067
JBrowse link
G SKI SKI proto-oncogene IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,228,319...2,310,213
JBrowse link
G SLC35E2A solute carrier family 35 member E2A IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,727,385...1,746,070
Ensembl chr 1:1,724,838...1,745,992
JBrowse link
G SLC35E2B solute carrier family 35 member E2B IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,661,478...1,692,795
Ensembl chr 1:1,659,529...1,692,795
JBrowse link
G SNORD167 small nucleolar RNA, C/D box 167 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,304,729...1,304,812 JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,541,673...1,574,863
Ensembl chr 1:1,541,673...1,574,863
JBrowse link
G TAS1R3 taste 1 receptor member 3 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,331,280...1,335,314
Ensembl chr 1:1,331,280...1,335,314
JBrowse link
G TMEM240 transmembrane protein 240 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,534,778...1,540,624
Ensembl chr 1:1,534,778...1,540,624
JBrowse link
G TMEM52 transmembrane protein 52 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,917,591...1,919,279
Ensembl chr 1:1,917,590...1,919,279
JBrowse link
G TMEM88B transmembrane protein 88B IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,425,871...1,430,255
Ensembl chr 1:1,425,871...1,430,255
JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592
JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,211,340...1,214,153
Ensembl chr 1:1,211,340...1,214,153
JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,173,880...1,197,936
Ensembl chr 1:1,173,880...1,197,936
JBrowse link
G TTLL10-AS1 TTLL10 antisense RNA 1 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,173,056...1,179,555
Ensembl chr 1:1,173,056...1,179,555
JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,253,912...1,273,854
Ensembl chr 1:1,253,909...1,273,864
JBrowse link
G VWA1 von Willebrand factor A domain containing 1 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882
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 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
ClinVar Annotator: match by term: Congenital myasthenic syndrome 9
ClinVar
OMIM
PMID:15184594 PMID:15496425 PMID:18414213 PMID:19949040 PMID:20371544 More... NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710
JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667
JBrowse link
G MUSK muscle associated receptor tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
JBrowse link
G RAPSN receptor associated protein of the synapse EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
JBrowse link
Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYT2 synaptotagmin 2 IAGP ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:32250532 PMID:32776697 PMID:33659639 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21669
    physical disorder 4608
      congenital myasthenic syndrome 158
        Autoimmune Limb-Girdle Myasthenia 0
        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, with Tubular Aggregates 0
        Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive 1
        congenital myasthenic syndrome 10 2
        congenital myasthenic syndrome 11 1
        congenital myasthenic syndrome 12 1
        congenital myasthenic syndrome 13 38
        congenital myasthenic syndrome 14 1
        congenital myasthenic syndrome 15 2
        congenital myasthenic syndrome 16 2
        congenital myasthenic syndrome 17 2
        congenital myasthenic syndrome 18 11
        congenital myasthenic syndrome 19 1
        congenital myasthenic syndrome 1A 4
        congenital myasthenic syndrome 20 1
        congenital myasthenic syndrome 21 2
        congenital myasthenic syndrome 22 2
        congenital myasthenic syndrome 2A 2
        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 8
        congenital myasthenic syndrome 5 2
        congenital myasthenic syndrome 6 4
        congenital myasthenic syndrome 7 1
        congenital myasthenic syndrome 8 66
        congenital myasthenic syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 21669
    disease of anatomical entity 20319
      nervous system disease 16313
        peripheral nervous system disease 3292
          neuropathy 3078
            neuromuscular disease 2451
              neuromuscular junction disease 187
                congenital myasthenic syndrome 158
                  Autoimmune Limb-Girdle Myasthenia 0
                  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, with Tubular Aggregates 0
                  Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive 1
                  congenital myasthenic syndrome 10 2
                  congenital myasthenic syndrome 11 1
                  congenital myasthenic syndrome 12 1
                  congenital myasthenic syndrome 13 38
                  congenital myasthenic syndrome 14 1
                  congenital myasthenic syndrome 15 2
                  congenital myasthenic syndrome 16 2
                  congenital myasthenic syndrome 17 2
                  congenital myasthenic syndrome 18 11
                  congenital myasthenic syndrome 19 1
                  congenital myasthenic syndrome 1A 4
                  congenital myasthenic syndrome 20 1
                  congenital myasthenic syndrome 21 2
                  congenital myasthenic syndrome 22 2
                  congenital myasthenic syndrome 2A 2
                  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 8
                  congenital myasthenic syndrome 5 2
                  congenital myasthenic syndrome 6 4
                  congenital myasthenic syndrome 7 1
                  congenital myasthenic syndrome 8 66
                  congenital myasthenic syndrome 9 1
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