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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: SYNAPTIC CONGENITAL MYASTHENIC SYNDROME;   SYNAPTIC CONGENITAL MYASTHENIC SYNDROMES;   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
 narrow_synonym: congenital myasthenic syndrome, CHRNE-related;   congenital myasthenic syndrome, due to CHRNE;   congenital myasthenic syndrome, recessive;   postsynaptic congenital myasthenic syndromes;   presynaptic congenital myasthenic syndromes
 primary_id: MESH:D020294
 alt_id: OMIA:000685
 xref: EFO:0020041;   GARD:11902;   MIM:PS601462;   MIM:PS610542;   NCI:C84647;   ORDO:590
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
congenital myasthenic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agrn agrin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital myasthenic syndrome		 CTD
ClinVar		 PMID:19631309 PMID:22205389 PMID:24951643 PMID:25741868 PMID:28221305 More... NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003 		JBrowse link
G Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:209,368,285...209,445,425
Ensembl chr 2:209,368,312...209,445,431 		JBrowse link
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297 		JBrowse link
G C10h17orf107 similar to human chromosome 17 open reading frame 107 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital ClinVar PMID:3651795 PMID:7863154 PMID:8755487 PMID:9097970 PMID:9158150 More... NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196 		JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Synaptic congenital myasthenic syndrome ClinVar PMID:11172068 PMID:12548525 PMID:19520274 PMID:21786365 PMID:22678886 More... NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093 		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: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital | ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes ClinVar PMID:9221765 PMID:24033266 PMID:25450229 PMID:25741868 PMID:26467025 More... NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive		 CTD
ClinVar		 PMID:28492532 NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO CTD Direct Evidence: marker/mechanism
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
ClinVar		 PMID:8872460 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon 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
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 Annotator: match by term: Presynaptic congenital myasthenic syndromes		 ClinVar PMID:3651795 PMID:7863154 PMID:8755487 PMID:8957026 PMID:9097970 More... NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530 		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 | ClinVar Annotator: match by term: Congenital myasthenic syndrome		 CTD
ClinVar		 PMID:16826520 PMID:25741868 PMID:28492532 NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
G Col13a1 collagen type XIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:29,783,965...29,924,116
Ensembl chr20:29,783,965...29,924,032 		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 Annotator: match by term: Myasthenic syndrome, slow-channel congenital | ClinVar Annotator: match by term: Synaptic congenital myasthenic syndromes ClinVar PMID:8390325 PMID:9536098 PMID:9689136 PMID:9758617 PMID:10441569 More... NCBI chr16:6,731,850...6,824,973
Ensembl chr16:6,731,858...6,787,107 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial
ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial		 ClinVar PMID:2261499 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 More... NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087 		JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome		 CTD
ClinVar		 PMID:8664562 PMID:21310273 PMID:23488891 PMID:23569079 PMID:23794683 More... NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes ClinVar PMID:25741868 PMID:28492532 PMID:28544784 PMID:29377152 NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451 		JBrowse link
G Lrp4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593 		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:9097970 PMID:9668239 PMID:10496269 PMID:10514102 PMID:10534268 More... NCBI chr10:55,278,293...55,330,782
Ensembl chr10:55,278,391...55,330,782 		JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive ClinVar PMID:28492532 NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932 		JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes ClinVar PMID:25741868 NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514 		JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772 		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:9536098 PMID:11791205 PMID:12651869 PMID:12730725 More... NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome		 CTD
ClinVar		 PMID:12766226 PMID:25741868 PMID:26659129 PMID:28492532 PMID:36090556 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:7,713,630...7,716,491 JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes		 CTD
ClinVar		 NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760 		JBrowse link
G Syt2 synaptotagmin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:46,088,046...46,197,976
Ensembl chr13:46,185,282...46,193,859 		JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:28253535 NCBI chr 4:158,021,454...158,028,905 JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:28253535 NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349 		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
ISS		 ClinVar Annotator: match by term: Compton-North congenital myopathy
OMIM:612540
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19026398 More... NCBI chr 7:123,263,146...123,560,896
Ensembl chr 7:123,372,792...123,558,541 		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
ISS		 ClinVar Annotator: match by term: Congenital myasthenic syndrome 10
OMIM:254300
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1483054 PMID:2261499 PMID:9536098 PMID:10222457 PMID:16199547 More... NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386 		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
ISS		 ClinVar Annotator: match by term: Congenital myasthenic syndrome 11
OMIM:616326		 OMIM
ClinVar
MouseDO		 PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373 		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
ISS		 ClinVar Annotator: match by term: Congenital myasthenic syndrome 12 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1 | ClinVar Annotator: match by term: Myasthenia, congenital, 12, with tubular aggregates
OMIM:610542		 OMIM
ClinVar
MouseDO		 PMID:8664562 PMID:9536098 PMID:12467753 PMID:16199547 PMID:17576681 More... NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myasthenia, congenital, 12, with tubular aggregates ClinVar PMID:25741868 PMID:28492532 PMID:29635721 PMID:36283893 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		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, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881 		JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340 		JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 OMIM
ClinVar		 PMID:9536098 PMID:12872255 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087 		JBrowse link
G Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484 		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: Congenital myasthenic syndrome 14 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates OMIM
ClinVar		 PMID:12684507 PMID:20813212 PMID:23404334 PMID:25741868 PMID:28492532 More... NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297 		JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596 		JBrowse link
G Anp32b acidic nuclear phosphoprotein 32 family member B ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,743,077...60,765,726
Ensembl chr 5:60,743,443...60,765,717 		JBrowse link
G Col15a1 collagen type XV alpha 1 chain ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:61,501,963...61,607,591
Ensembl chr 5:61,501,963...61,607,591 		JBrowse link
G Coro2a coronin 2A ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,825,630...60,881,917
Ensembl chr 5:60,828,247...60,859,035 		JBrowse link
G Erp44 endoplasmic reticulum protein 44 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:62,516,550...62,610,762
Ensembl chr 5:62,516,551...62,610,761 		JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835 		JBrowse link
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104 		JBrowse link
G Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:61,384,575...61,413,346
Ensembl chr 5:61,384,571...61,413,354 		JBrowse link
G Hemgn hemogen ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,679,633...60,698,597
Ensembl chr 5:60,679,633...60,698,669 		JBrowse link
G Invs inversin ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350 		JBrowse link
G Nans N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950 		JBrowse link
G Ncbp1 nuclear cap binding protein subunit 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,416,023...60,449,004
Ensembl chr 5:60,415,982...60,449,089 		JBrowse link
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733 		JBrowse link
G Sec61b SEC61 translocon subunit beta ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:61,773,594...61,781,804
Ensembl chr 5:61,773,594...61,781,804 		JBrowse link
G Stx17 syntaxin 17 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:62,446,138...62,506,108
Ensembl chr 5:62,446,187...62,504,451 		JBrowse link
G Tbc1d2 TBC1 domain family, member 2 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,884,114...60,931,717
Ensembl chr 5:60,884,124...60,931,352 		JBrowse link
G Tdrd7 tudor domain containing 7 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tmod1 tropomodulin 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,316,445...60,393,957
Ensembl chr 5:60,338,512...60,393,956 		JBrowse link
G Trim14 tripartite motif-containing 14 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,800,568...60,824,858
Ensembl chr 5:60,800,032...60,824,858 		JBrowse link
G Trmo tRNA methyltransferase O ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,663,106...60,676,423
Ensembl chr 5:60,667,864...60,676,423 		JBrowse link
G Tstd2 thiosulfate sulfurtransferase like domain containing 2 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,371,751...60,415,916
Ensembl chr 5:60,393,454...60,415,916 		JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,431,673...60,475,726
Ensembl chr 5:60,431,673...60,475,726 		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: Congenital myasthenic syndrome 15 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 15, without tubular aggregates OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23404334 PMID:25741868 More... NCBI chr 2:209,368,285...209,445,425
Ensembl chr 2:209,368,312...209,445,431 		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 16 | ClinVar Annotator: match by term: Congenital myasthenic syndrome, acetazolamide-responsive OMIM
ClinVar		 PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659948 PMID:1918277 More... NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		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: Congenital myasthenic syndrome 17 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24234652 PMID:25741868 PMID:28492532 NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593 		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 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chr 3:123,847,832...123,883,060
Ensembl chr 3:123,847,817...123,883,059 		JBrowse link
G Hao1 hydroxyacid oxidase 1 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chr 3:121,757,400...121,828,721
Ensembl chr 3:121,771,836...121,828,721 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Lamp5 lysosomal-associated membrane protein family, member 5 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chr 3:123,372,462...123,384,973
Ensembl chr 3:123,372,462...123,384,952 		JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162 		JBrowse link
G Pak5 p21 (RAC1) activated kinase 5 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chr 3:123,395,678...123,703,967
Ensembl chr 3:123,396,497...123,703,930 		JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869 		JBrowse link
G Plcb4 phospholipase C, beta 4 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392 		JBrowse link
G Slx4ip SLX4 interacting protein ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chr 3:124,220,215...124,396,797
Ensembl chr 3:124,221,198...124,396,797 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA OMIM
ClinVar		 PMID:9536098 PMID:15044754 PMID:15834421 PMID:17576681 PMID:25381298 More... NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760 		JBrowse link
G Tmx4 thioredoxin-related transmembrane protein 4 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chr 3:121,856,237...121,899,680
Ensembl chr 3:121,856,261...121,899,641 		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
ISS		 OMIM:616720
ClinVar Annotator: match by term: COL13A1-related condition | ClinVar Annotator: match by term: Congenital myasthenic syndrome 19		 OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26626625 More... NCBI chr20:29,783,965...29,924,116
Ensembl chr20:29,783,965...29,924,032 		JBrowse link
congenital myasthenic syndrome 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10h17orf107 similar to human chromosome 17 open reading frame 107 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel ClinVar PMID:9097970 PMID:9668239 PMID:9708546 PMID:10496269 PMID:10514102 More... NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196 		JBrowse link
G Cast calpastatin ISO RGD PMID:17853947 RGD:5509810 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: CHRNA1-Related Congenital Myasthenic Syndrome | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A OMIM
ClinVar		 PMID:3651795 PMID:6287911 PMID:7619526 PMID:7863154 PMID:8872460 More... NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel ClinVar PMID:9097970 PMID:9668239 PMID:9708546 PMID:10496269 PMID:10514102 More... NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530 		JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel ClinVar PMID:9758617 PMID:15159418 PMID:22678886 PMID:22960500 PMID:25741868 More... NCBI chr16:6,731,850...6,824,973
Ensembl chr16:6,731,858...6,787,107 		JBrowse link
G Mink1 misshapen-like kinase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A ClinVar PMID:9097970 PMID:9668239 PMID:10496269 PMID:10514102 PMID:10534268 More... NCBI chr10:55,278,293...55,330,782
Ensembl chr10:55,278,391...55,330,782 		JBrowse link
congenital myasthenic syndrome 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10h17orf107 similar to human chromosome 17 open reading frame 107 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel ClinVar PMID:8755487 PMID:17878953 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel OMIM
ClinVar		 PMID:7254233 PMID:10195214 PMID:12588888 PMID:15079006 PMID:18806275 More... NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel ClinVar PMID:8755487 PMID:17878953 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530 		JBrowse link
congenital myasthenic syndrome 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc22a5 solute carrier family 22 member 5 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 20, presynaptic ClinVar PMID:9916797 PMID:11715001 PMID:25741868 PMID:28492532 PMID:28841266 NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 20 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 20, presynaptic OMIM
ClinVar		 PMID:25741868 PMID:27569547 PMID:28492532 PMID:33250374 PMID:36703223 NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258 		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: Congenital myasthenic syndrome 21 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 21, presynaptic ClinVar PMID:25741868 PMID:27590285 PMID:28492532 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO 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 chr16:7,713,630...7,716,491 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 Annotator: match by term: PREPL DEFICIENCY OMIM
ClinVar		 PMID:9536098 PMID:10737983 PMID:16199547 PMID:17576681 PMID:19782624 More... NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22 ClinVar PMID:9536098 PMID:10737983 PMID:17576681 PMID:19782624 PMID:22796000 More... NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907 		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 | ClinVar Annotator: match by term: SLC25A1-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26870663 PMID:28492532 More... NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781 		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: MYO9A-related condition | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 24, presynaptic OMIM
ClinVar		 PMID:25741868 PMID:26752647 PMID:27259756 PMID:28492532 PMID:30237576 More... NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514 		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 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 25, presynaptic ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 4:158,021,454...158,028,905 JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 25 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 25, presynaptic OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349 		JBrowse link
congenital myasthenic syndrome 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933427D14Rikl RIKEN cDNA 4933427D14 gene like ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968 		JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,605,323...54,619,472
Ensembl chr10:54,605,323...54,619,472 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922 		JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542 		JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631 		JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617 		JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933 		JBrowse link
G Bacc1 BPTF associated chromatin complex component 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,951,991...54,954,756
Ensembl chr10:54,951,991...54,956,601 		JBrowse link
G Bcl6b BCL6B, transcription repressor ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,940,908...54,947,022
Ensembl chr10:54,940,909...54,945,974 		JBrowse link
G C10h17orf100 similar to human chromosome 17 open reading frame 100 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:56,840,451...56,843,674
Ensembl chr10:56,832,412...56,843,871 		JBrowse link
G Cd68 Cd68 molecule ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697 		JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A OMIM
ClinVar		 PMID:8651643 PMID:8872460 PMID:9536098 PMID:10562302 PMID:16199547 More... NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345 		JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171 		JBrowse link
G Clec10a C-type lectin domain containing 10A ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,876,244...54,880,439
Ensembl chr10:54,876,260...54,880,435 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820 		JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,384,345...54,389,855
Ensembl chr10:54,384,347...54,389,858 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656 		JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923 		JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:56,929,699...56,934,911
Ensembl chr10:56,932,297...56,934,906 		JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,516,508...54,522,067
Ensembl chr10:54,517,077...54,522,062 		JBrowse link
G Fxr2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,350,577...54,370,964
Ensembl chr10:54,350,131...54,370,964 		JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,714,777...54,718,099
Ensembl chr10:54,714,198...54,717,765 		JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650 		JBrowse link
G Kctd11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,602,575...54,604,738
Ensembl chr10:54,599,754...54,604,760 		JBrowse link
G Med31 mediator complex subunit 31 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:56,836,944...56,840,326
Ensembl chr10:56,836,944...56,840,326 		JBrowse link
G Mir195 microRNA 195 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924 		JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447 		JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,624,923...54,637,262
Ensembl chr10:54,625,642...54,637,258 		JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,544,461...54,557,854
Ensembl chr10:54,544,588...54,558,434 		JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,718,663...54,722,784
Ensembl chr10:54,717,724...54,722,782 		JBrowse link
G Pimreg PICALM interacting mitotic regulator ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:56,669,603...56,674,540
Ensembl chr10:56,669,675...56,674,791 		JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584 		JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,566,556...54,573,240
Ensembl chr10:54,566,873...54,578,709 		JBrowse link
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455 		JBrowse link
G Rnasek ribonuclease K ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,954,904...54,956,622
Ensembl chr10:54,951,991...54,956,601 		JBrowse link
G Sat2 spermidine/spermine N1-acetyltransferase family member 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,340,756...54,343,507
Ensembl chr10:54,340,372...54,343,224 		JBrowse link
G Senp3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,390,698...54,399,590
Ensembl chr10:54,390,694...54,399,593 		JBrowse link
G Shbg sex hormone binding globulin ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057 		JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945 		JBrowse link
G Slc16a11 solute carrier family 16, member 11 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,929,129...54,933,021
Ensembl chr10:54,927,725...54,942,915 		JBrowse link
G Slc16a13 solute carrier family 16, member 13 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,925,973...54,937,860
Ensembl chr10:54,926,760...54,937,788 		JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565 		JBrowse link
G Slc35g3 solute carrier family 35, member G3 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,478,796...54,481,543
Ensembl chr10:54,479,770...54,481,748 		JBrowse link
G Sox15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,373,045...54,374,749
Ensembl chr10:54,372,403...54,376,591 		JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,541,454...54,542,755
Ensembl chr10:54,541,471...54,546,131 		JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,537,168...54,539,026
Ensembl chr10:54,537,174...54,539,058 		JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:56,952,164...56,980,572
Ensembl chr10:56,952,167...56,980,572 		JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,523,901...54,525,997
Ensembl chr10:54,523,585...54,525,990 		JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120 		JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,599,799...54,601,746
Ensembl chr10:54,599,800...54,601,790 		JBrowse link
G Tnfsf12 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,403,870...54,413,213
Ensembl chr10:54,403,870...54,413,213 		JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042 		JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Txndc17 thioredoxin domain containing 17 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:56,832,749...56,835,721 JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929 		JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:56,917,378...56,929,791
Ensembl chr10:56,917,121...56,929,770 		JBrowse link
G Ybx2 Y box binding protein 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,659,719...54,665,371
Ensembl chr10:54,659,719...54,665,371 		JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr10:54,480,698...54,501,492
Ensembl chr10:54,485,071...54,501,492 		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: Congenital myasthenic syndrome 2C OMIM
ClinVar		 PMID:10562302 PMID:25741868 PMID:28492532 PMID:32504635 PMID:33060286 NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345 		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
ISS		 OMIM:616321
ClinVar Annotator: match by term: Congenital myasthenic syndrome 3A		 OMIM
MouseDO
ClinVar		 PMID:11782989 PMID:25264167 PMID:25741868 PMID:28492532 PMID:32528171 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		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: Congenital myasthenic syndrome 3B OMIM
ClinVar		 PMID:11435464 PMID:12499478 PMID:16199547 PMID:16916845 PMID:18252226 More... NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		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: Congenital myasthenic syndrome 3C OMIM
ClinVar		 PMID:11435464 PMID:16199547 PMID:16916845 PMID:23108489 PMID:25264167 More... NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
congenital myasthenic syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrne cholinergic receptor nicotinic epsilon subunit ISO OMIM NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530 		JBrowse link
congenital myasthenic syndrome 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10h17orf107 similar to human chromosome 17 open reading frame 107 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:3651795 PMID:7531341 PMID:7538206 PMID:7863154 PMID:8232384 More... NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196 		JBrowse link
G Camta2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A ClinVar PMID:28492532 NCBI chr10:55,383,450...55,401,838
Ensembl chr10:55,383,450...55,401,558 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO
ISS		 ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel
OMIM:605809
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:3651795 PMID:7531341 PMID:7538206 PMID:7863154 PMID:8232384 More... NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530 		JBrowse link
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A ClinVar PMID:28492532 NCBI chr10:55,370,531...55,375,921
Ensembl chr10:55,366,975...55,375,921 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A ClinVar PMID:28492532 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A ClinVar PMID:28492532 NCBI chr10:55,401,989...55,414,364
Ensembl chr10:55,401,982...55,414,114 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A ClinVar PMID:28492532 NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545 		JBrowse link
G Mink1 misshapen-like kinase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A ClinVar PMID:7531341 PMID:7538206 PMID:8872460 PMID:9097970 PMID:9668239 More... NCBI chr10:55,278,293...55,330,782
Ensembl chr10:55,278,391...55,330,782 		JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A ClinVar PMID:28492532 NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631 		JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A ClinVar PMID:28492532 NCBI chr10:55,360,603...55,364,927
Ensembl chr10:55,360,543...55,364,927 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A ClinVar PMID:28492532 NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410 		JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A ClinVar PMID:28492532 NCBI chr10:55,377,249...55,383,404
Ensembl chr10:55,377,249...55,383,404 		JBrowse link
congenital myasthenic syndrome 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10h17orf107 similar to human chromosome 17 open reading frame 107 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4B | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel ClinVar PMID:8232384 PMID:8663316 PMID:8755487 PMID:9097970 PMID:9158150 More... NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO 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:8957026 PMID:9097970 More... NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530 		JBrowse link
G Mink1 misshapen-like kinase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4B ClinVar PMID:9097970 PMID:9668239 PMID:10496269 PMID:10514102 PMID:10534268 More... NCBI chr10:55,278,293...55,330,782
Ensembl chr10:55,278,391...55,330,782 		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 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C ClinVar PMID:25741868 PMID:34008892 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G C10h17orf107 similar to human chromosome 17 open reading frame 107 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency ClinVar PMID:8232384 PMID:8755487 PMID:9097970 PMID:9158150 PMID:9536098 More... NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196 		JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C ClinVar PMID:12548525 PMID:21786365 PMID:23292760 PMID:25741868 PMID:28492532 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093 		JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C ClinVar PMID:9536098 PMID:10562302 PMID:17576681 PMID:18414213 PMID:25741868 More... NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO
ISS		 ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency
OMIM:608931
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8232384 PMID:8755487 PMID:8957026 PMID:9097970 PMID:9158150 More... NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530 		JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency		 CTD
ClinVar		 PMID:23794683 PMID:25741868 PMID:28464723 PMID:28492532 PMID:29054425 More... NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471 		JBrowse link
G Mink1 misshapen-like kinase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C ClinVar PMID:9097970 PMID:9668239 PMID:10496269 PMID:10514102 PMID:10534268 More... NCBI chr10:55,278,293...55,330,782
Ensembl chr10:55,278,391...55,330,782 		JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C ClinVar PMID:8653786 PMID:16199547 PMID:25612909 PMID:25695962 PMID:25741868 More... NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C ClinVar PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 PMID:12807980 More... NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373 		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
ISS		 ClinVar Annotator: match by term: Congenital myasthenic syndrome 5
OMIM:603034
CTD Direct Evidence: marker/mechanism|therapeutic		 OMIM
ClinVar
MouseDO
CTD		 PMID:214017 PMID:8390325 PMID:9536098 PMID:9689136 PMID:9758617 More... NCBI chr16:6,731,850...6,824,973
Ensembl chr16:6,731,858...6,787,107 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO Myasthenic syndrome, congenital, COLQ-related OMIA PMID:25166616 PMID:27080328 PMID:29405353 PMID:31769119 PMID:32668077 NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027 		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
ISS		 DNA:frameshift mutation, missense mutations (human)
ClinVar Annotator: match by term: Familial infantile myasthenia
OMIM:254210
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9073174 PMID:9536098 PMID:11172068 PMID:12548525 PMID:12609506 More... RGD:1600831 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar PMID:21948486 PMID:25741868 PMID:28492532 NCBI chr16:7,713,630...7,716,491 JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC ClinVar PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		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: Congenital myasthenic syndrome 7 OMIM
ClinVar		 PMID:25192047 PMID:25741868 PMID:26519543 PMID:28492532 PMID:28953919 More... NCBI chr13:46,088,046...46,197,976
Ensembl chr13:46,185,282...46,193,859 		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: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481 		JBrowse link
G Agrn agrin ISO
ISS		 ClinVar Annotator: match by term: Congenital myasthenic syndrome 8
OMIM:615120		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19631309 More... NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482 		JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003 		JBrowse link
G C5h1orf159 similar to human chromosome 1 open reading frame 159 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955 		JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882 		JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333 		JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326 		JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651 		JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,648,494...166,648,582 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366 		JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492 		JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322 		JBrowse link
G Perm1 PPARGC1 and ESRR induced regulator, muscle 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar NCBI chr 5:166,800,030...166,805,323
Ensembl chr 5:166,800,030...166,805,323 		JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367 		JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,497,643...166,500,647
Ensembl chr 5:166,496,755...166,500,611 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,723,346...166,726,236
Ensembl chr 5:166,724,984...166,725,751 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733 		JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021 		JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,048,669...166,050,423
Ensembl chr 5:166,046,565...166,050,433 		JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637 		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
ISS		 ClinVar Annotator: match by term: Congenital myasthenic syndrome 9 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
OMIM:616325		 OMIM
ClinVar
MouseDO		 PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 More... NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932 		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 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530 		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 chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373 		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 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | ClinVar Annotator: match by term: SYT2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32250532 PMID:32776697 PMID:33659639 NCBI chr13:46,088,046...46,197,976
Ensembl chr13:46,185,282...46,193,859 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    physical disorder 5180
      congenital myasthenic syndrome 190
        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 + 5
        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 1
        congenital myasthenic syndrome 11 1
        congenital myasthenic syndrome 12 2
        congenital myasthenic syndrome 13 9
        congenital myasthenic syndrome 14 24
        congenital myasthenic syndrome 15 1
        congenital myasthenic syndrome 16 1
        congenital myasthenic syndrome 17 1
        congenital myasthenic syndrome 18 11
        congenital myasthenic syndrome 19 1
        congenital myasthenic syndrome 1A 6
        congenital myasthenic syndrome 20 2
        congenital myasthenic syndrome 21 2
        congenital myasthenic syndrome 22 2
        congenital myasthenic syndrome 2A 62
        congenital myasthenic syndrome 2C 1
        congenital myasthenic syndrome 3A 1
        congenital myasthenic syndrome 3B 1
        congenital myasthenic syndrome 3C 1
        congenital myasthenic syndrome 4 + 18
        congenital myasthenic syndrome 5 2
        congenital myasthenic syndrome 6 3
        congenital myasthenic syndrome 7 1
        congenital myasthenic syndrome 8 42
        congenital myasthenic syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        peripheral nervous system disease 4274
          neuropathy 4059
            neuromuscular disease 3200
              neuromuscular junction disease 220
                congenital myasthenic syndrome 190
                  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 + 5
                  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 1
                  congenital myasthenic syndrome 11 1
                  congenital myasthenic syndrome 12 2
                  congenital myasthenic syndrome 13 9
                  congenital myasthenic syndrome 14 24
                  congenital myasthenic syndrome 15 1
                  congenital myasthenic syndrome 16 1
                  congenital myasthenic syndrome 17 1
                  congenital myasthenic syndrome 18 11
                  congenital myasthenic syndrome 19 1
                  congenital myasthenic syndrome 1A 6
                  congenital myasthenic syndrome 20 2
                  congenital myasthenic syndrome 21 2
                  congenital myasthenic syndrome 22 2
                  congenital myasthenic syndrome 2A 62
                  congenital myasthenic syndrome 2C 1
                  congenital myasthenic syndrome 3A 1
                  congenital myasthenic syndrome 3B 1
                  congenital myasthenic syndrome 3C 1
                  congenital myasthenic syndrome 4 + 18
                  congenital myasthenic syndrome 5 2
                  congenital myasthenic syndrome 6 3
                  congenital myasthenic syndrome 7 1
                  congenital myasthenic syndrome 8 42
                  congenital myasthenic syndrome 9 1
paths to the root