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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 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19631309 PMID:22205389 PMID:24951643 PMID:28492532 PMID:30994901 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 Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial ClinVar PMID:7762555 PMID:8353501 PMID:9587029 PMID:10338090 PMID:10408774 More... NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:11172068 PMID:21786365 PMID:24033266 PMID:26080897 PMID:28492532 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 PMID:24033266 PMID:25450229 PMID:25741868 PMID:26467025 PMID:28492532 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 ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
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 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 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
ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive
ClinVar PMID:8755487 PMID:8957026 PMID:9097970 PMID:9158150 PMID:9443457 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
CTD
ClinVar
PMID:16826520 PMID:25741868 NCBI chr 9:87,878,085...87,884,193 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 PMID:9689136 PMID:22678886 PMID:23371844 PMID:24033266 PMID:24281389 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 PMID:2261499 PMID:16917026 PMID:17439981 PMID:17452375 PMID:18161030 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 ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:28492532 PMID:29905857 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:28544784 NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome
ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive
ClinVar PMID:8755487 PMID:9158150 PMID:9708546 PMID:12141316 PMID:12417530 More... NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196
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:17363247 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...60,348,726
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:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chr 3:77,014,699...77,024,373
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...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome
ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12766226 PMID:26659129 PMID:28492532 NCBI chr10:91,246,936...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 CTD 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 ClinVar Annotator: match by term: Myopathy, congenital, compton-north
ClinVar Annotator: match by OMIM:612540
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19026398 PMID:22242131 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 Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 10 ClinVar PMID:7762555 PMID:8353501 PMID:9587029 PMID:10338090 PMID:10408774 More... NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
JBrowse link
G Dok7 docking protein 7 ISO OMIM 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 ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency ClinVar
OMIM
PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chr 3:77,014,699...77,024,373
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 ClinVar Annotator: match by term: Congenital myasthenic syndrome 12
ClinVar Annotator: match by term: Congenital myasthenic syndrome with tubular aggregates 1
ClinVar Annotator: match by OMIM:610542
OMIM
ClinVar
PMID:8664562 PMID: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
congenital myasthenic syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID: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, with tubular aggregates 2 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, with tubular aggregates 2 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 Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 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 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2
ClinVar Annotator: match by term: Congenital myasthenic syndrome 13
ClinVar Annotator: match by OMIM:614750
OMIM
ClinVar
PMID:9536098 PMID:12872255 PMID:17576681 PMID:18414213 PMID:22742743 More... NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 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, with tubular aggregates 2 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 Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 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
G Pdzd3 PDZ domain containing 3 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 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
congenital myasthenic syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 3
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14
ClinVar
OMIM
PMID:12684507 PMID:23404334 PMID:25741868 PMID:28492532 NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297
JBrowse link
congenital myasthenic syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, without tubular aggregates
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 15
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:23404334 PMID:25741868 PMID:28492532 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, acetazolamide-responsive
ClinVar Annotator: match by OMIM:614198
OMIM
ClinVar
PMID:7695243 PMID:9266738 PMID:12766226 PMID:12898257 PMID:15534250 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: Myasthenic syndrome, congenital, 17 ClinVar
OMIM
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 Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 18
ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25381298 PMID:25741868 PMID:26467025 More... NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
JBrowse link
congenital myasthenic syndrome 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col13a1 collagen type XIII alpha 1 chain ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 19 OMIM
ClinVar
PMID:25741868 PMID:26626625 PMID:30767057 PMID:31081514 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 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: 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 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
JBrowse link
congenital myasthenic syndrome 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 1B, fast-channel OMIM
ClinVar
PMID:7254233 PMID:10195214 PMID:12588888 PMID:15079006 PMID:18806275 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 1B, fast-channel ClinVar PMID:8755487 PMID:17878953 PMID:26467025 PMID:28492532 NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 1B, fast-channel ClinVar PMID:8755487 PMID:17878953 PMID:26467025 PMID:28492532 NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196
JBrowse link
congenital myasthenic syndrome 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 20, presynaptic ClinVar
OMIM
PMID:25741868 PMID:27569547 PMID:28492532 NCBI chr 9:7,595,440...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: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
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: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 21, presynaptic
ClinVar
OMIM
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
OMIM
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:10737983 PMID:19782624 PMID:22796000 PMID:24610330 PMID:25741868 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 OMIM
ClinVar
PMID:26870663 PMID:31527857 PMID:31808147 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: 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 NCBI chr 8:60,149,234...60,348,726
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, PRESYNAPTIC ClinVar PMID:28168212 PMID:28253535 PMID:28600779 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, PRESYNAPTIC ClinVar
OMIM
PMID:28168212 PMID:28253535 PMID:28600779 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 Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: CMS IIa ClinVar PMID:25741868 PMID:28492532 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 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 chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345
JBrowse link
congenital myasthenic syndrome 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency ClinVar
OMIM
PMID:10562302 PMID:25741868 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 ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 3a, slow-channel ClinVar
OMIM
PMID:11782989 PMID:25264167 PMID:25741868 PMID:28492532 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: Myasthenic syndrome, congenital, 3b, fast-channel OMIM
ClinVar
PMID:11435464 PMID:12499478 PMID:18398509 PMID:25741868 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: Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency ClinVar
OMIM
PMID:16916845 PMID:25741868 PMID:28492532 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
JBrowse link
congenital myasthenic syndrome 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel
ClinVar Annotator: match by term: CONGENITAL MYASTHENIC SYNDROME TYPE Ia1
OMIM
ClinVar
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 Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:28492532 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel
ClinVar Annotator: match by term: CONGENITAL MYASTHENIC SYNDROME TYPE Ia1
ClinVar PMID:3651795 PMID:7531341 PMID:7538206 PMID:7863154 PMID:8232384 More... NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196
JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel 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: Myasthenic syndrome, congenital, 4a, slow-channel 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: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:28492532 NCBI chr10:55,358,163...55,360,278
Ensembl chr10:55,357,597...55,360,410
JBrowse link
congenital myasthenic syndrome 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel OMIM
ClinVar
PMID:8232384 PMID:8663316 PMID:8755487 PMID:9097970 PMID:9158150 More... NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel ClinVar PMID:8232384 PMID:8755487 PMID:9158150 PMID:12417530 PMID:17878953 More... NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196
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 Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency ClinVar PMID:25741868 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: 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 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 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 OMIM:608931
OMIM
ClinVar
PMID:8755487 PMID:8957026 PMID:9097970 PMID:9158150 PMID:9443457 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 CTD NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C
ClinVar PMID:8755487 PMID:9158150 PMID:9536098 PMID:11030414 PMID:12417530 More... NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196
JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C
ClinVar PMID:16199547 PMID:25695962 PMID:25741868 PMID:25900532 PMID:28492532 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: 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 chr 3:77,014,699...77,024,373
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 ClinVar Annotator: match by term: Endplate acetylcholinesterase deficiency
ClinVar Annotator: match by OMIM:603034
CTD Direct Evidence: marker/mechanism|therapeutic
OMIM
ClinVar
CTD
PMID:214017 PMID: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 Hacl1 2-hydroxyacyl-CoA lyase 1 ISO Myasthenic syndrome, congenital, COLQ-related OMIA PMID:25166616 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 DNA:frameshift mutation, missense mutations (human)
ClinVar Annotator: match by term: Familial infantile myasthenia
ClinVar Annotator: match by OMIM:254210
ClinVar
OMIM
RGD
PMID:7616604 PMID:9536098 PMID:11172068 PMID:12548525 PMID:12756141 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 NCBI chr16:7,713,630...7,716,491 JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 PMID:8730290 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: Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 7, presynaptic
ClinVar
OMIM
PMID:25192047 PMID:25741868 PMID:26519543 PMID:30533528 PMID:33320396 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: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,500,781...166,515,477
Ensembl chr 5:166,500,781...166,515,481
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19631309 PMID:22205389 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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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 Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,435,177...166,436,888
Ensembl chr 5:166,417,508...166,436,882
JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,584,202...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: Myasthenic syndrome, congenital, 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 Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,416,940...166,428,997 JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,212,761...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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,299,587...166,311,477 JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:165,958,508...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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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 Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,496,755...166,500,611
Ensembl chr 5:166,496,755...166,500,611
JBrowse link
G RGD1311517 similar to RIKEN cDNA 9430015G10 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,720,408...166,726,236 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,586,581...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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,469,589...166,472,742
Ensembl chr 5:166,469,589...166,472,742
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,344,000...166,350,210 JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8 ClinVar PMID:24951643 PMID:28492532 NCBI chr 5:166,048,667...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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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: Myasthenic syndrome, congenital, 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 ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency ClinVar
OMIM
PMID:15184594 PMID:15496425 PMID:18414213 PMID:19949040 PMID:20371544 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 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
JBrowse link
MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, 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
OMIM
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 17289
    physical disorder 3103
      congenital myasthenic syndrome 91
        Compton-North congenital myopathy 1
        Congenital Myasthenia, Refractory to Acetylcholinesterase Inhibitors 0
        Congenital Myasthenic Syndrome 23 1
        Congenital Myasthenic Syndrome 24 1
        Congenital Myasthenic Syndrome 25 2
        Congenital Myasthenic Syndrome, Fast-Channel + 4
        Congenital Myasthenic Syndrome, with Facial Dysmorphism 0
        Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency + 4
        Limb-Girdle Myasthenia, Autoimmune 0
        Limb-Girdle Myasthenia, with Tubular Aggregates 0
        MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE 1
        congenital myasthenic syndrome 10 2
        congenital myasthenic syndrome 11 1
        congenital myasthenic syndrome 12 1
        congenital myasthenic syndrome 13 9
        congenital myasthenic syndrome 14 1
        congenital myasthenic syndrome 15 1
        congenital myasthenic syndrome 16 1
        congenital myasthenic syndrome 17 1
        congenital myasthenic syndrome 18 1
        congenital myasthenic syndrome 19 1
        congenital myasthenic syndrome 1A 2
        congenital myasthenic syndrome 20 1
        congenital myasthenic syndrome 21 2
        congenital myasthenic syndrome 22 2
        congenital myasthenic syndrome 2A 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 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 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              neuromuscular junction disease 118
                congenital myasthenic syndrome 91
                  Compton-North congenital myopathy 1
                  Congenital Myasthenia, Refractory to Acetylcholinesterase Inhibitors 0
                  Congenital Myasthenic Syndrome 23 1
                  Congenital Myasthenic Syndrome 24 1
                  Congenital Myasthenic Syndrome 25 2
                  Congenital Myasthenic Syndrome, Fast-Channel + 4
                  Congenital Myasthenic Syndrome, with Facial Dysmorphism 0
                  Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency + 4
                  Limb-Girdle Myasthenia, Autoimmune 0
                  Limb-Girdle Myasthenia, with Tubular Aggregates 0
                  MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE 1
                  congenital myasthenic syndrome 10 2
                  congenital myasthenic syndrome 11 1
                  congenital myasthenic syndrome 12 1
                  congenital myasthenic syndrome 13 9
                  congenital myasthenic syndrome 14 1
                  congenital myasthenic syndrome 15 1
                  congenital myasthenic syndrome 16 1
                  congenital myasthenic syndrome 17 1
                  congenital myasthenic syndrome 18 1
                  congenital myasthenic syndrome 19 1
                  congenital myasthenic syndrome 1A 2
                  congenital myasthenic syndrome 20 1
                  congenital myasthenic syndrome 21 2
                  congenital myasthenic syndrome 22 2
                  congenital myasthenic syndrome 2A 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 3
                  congenital myasthenic syndrome 7 1
                  congenital myasthenic syndrome 8 42
                  congenital myasthenic syndrome 9 1
paths to the root