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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 ClinVar PMID:19631309 PMID:22205389 PMID:24951643 PMID:28492532 PMID:30994901 NCBI chrNW_004936737:2,010,647...2,041,401 JBrowse link
G Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936537:4,161,095...4,247,085 JBrowse link
G Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936524:7,725,444...7,730,869 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 chrNW_004936728:653,654...702,433 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 PMID:9221765 PMID:24033266 PMID:25450229 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936509:4,452,382...4,470,658 JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive ClinVar NCBI chrNW_004936595:727,907...735,783 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 ClinVar PMID:8872460 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chrNW_004936525:4,560,293...4,568,431 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 PMID:8755487 PMID:8957026 PMID:9097970 PMID:9158150 PMID:9443457 More... NCBI chrNW_004936677:2,809,057...2,813,838 JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:25741868 NCBI chrNW_004936525:4,550,987...4,556,574 JBrowse link
G Col13a1 collagen type XIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936521:8,588,568...8,643,786 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 PMID:9689136 PMID:9758617 PMID:15159418 PMID:22678886 PMID:22960500 More... NCBI chrNW_004936473:2,877,543...2,941,374 JBrowse link
G CUNH17orf107 chromosome unknown C17orf107 homolog ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital ClinVar PMID:8755487 PMID:9158150 PMID:9536098 PMID:9539130 PMID:9708546 More... NCBI chrNW_004936677:2,811,199...2,812,425 JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936542:4,049,107...4,054,100 JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936491:13,603,256...13,665,298 JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes ClinVar PMID:25741868 PMID:28544784 NCBI chrNW_004936514:9,928,234...9,973,425 JBrowse link
G Lrp4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936562:2,211,519...2,262,899 JBrowse link
G Lrpprc leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial ClinVar PMID:25326637 PMID:27408822 PMID:28492532 NCBI chrNW_004936508:7,961,079...8,068,228 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 chrNW_004936677:2,813,899...2,864,366 JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive ClinVar PMID:28492532 NCBI chrNW_004936559:2,387,019...2,486,685 JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes ClinVar PMID:25741868 NCBI chrNW_004936471:31,255,387...31,548,819 JBrowse link
G Prepl prolyl endopeptidase like ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936508:7,637,844...7,674,232 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 chrNW_004936562:1,796,087...1,804,153 JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936801:1,185,615...1,298,416 JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:12766226 PMID:26659129 PMID:28492532 NCBI chrNW_004936541:4,541,061...4,570,212 JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936728:703,688...706,317 JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936729:1,511,648...1,534,042 JBrowse link
G Snap25 synaptosome associated protein 25 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936485:9,198,744...9,279,854 JBrowse link
G Syt2 synaptotagmin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936567:1,941,651...1,984,422 JBrowse link
G Tapbpl TAP binding protein like ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:28253535 NCBI chrNW_004936709:1,304,843...1,313,191 JBrowse link
G Vamp1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome ClinVar PMID:28253535 NCBI chrNW_004936709:1,297,820...1,304,793 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: Compton-North congenital myopathy OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19026398 PMID:22242131 More... NCBI chrNW_004936607:8,430...291,964 JBrowse link
congenital myasthenic syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrpprc leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 ClinVar PMID:25326637 PMID:27408822 PMID:28492532 NCBI chrNW_004936508:7,961,079...8,068,228 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: Congenital myasthenic syndrome 11 OMIM
ClinVar		 PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chrNW_004936562:1,796,087...1,804,153 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 OMIM
ClinVar		 PMID:8664562 PMID:9536098 PMID:12467753 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936491:13,603,256...13,665,298 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 Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004936542:4,090,282...4,106,025 JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,605,553...3,634,889 JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,453,287...3,461,125 JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,873,530...3,902,871 JBrowse link
G C2cd2l C2CD2 like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004936542:4,058,945...4,068,187 JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004936542:4,136,389...4,235,746 JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004936542:4,127,054...4,131,148 JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,400,129...3,403,628 JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,379,361...3,390,677 JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,405,084...3,412,104 JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,965,259...3,974,736 JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,860,536...3,872,528 JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,748,599...3,781,405 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 chrNW_004936542:4,049,107...4,054,100 JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,943,174...3,951,473 JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004936542:4,037,888...4,046,089 JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:4,005,616...4,018,135 JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,577,387...3,597,954 JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,284,445...3,312,190 JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,480,071...3,566,823 JBrowse link
G LOC101966907 histone H2AX ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:4,046,930...4,049,017 JBrowse link
G LOC101968137 histone H4 transcription factor ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004936542:4,072,771...4,083,973 JBrowse link
G Mpzl2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,332,822...3,344,663 JBrowse link
G Mpzl3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,314,921...3,332,785 JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004936542:4,105,980...4,121,176 JBrowse link
G Pdzd3 PDZ domain containing 3 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:22742743 PMID:28492532 NCBI chrNW_004936542:4,121,275...4,126,611 JBrowse link
G Phldb1 pleckstrin homology like domain family B member 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,639,992...3,688,000 JBrowse link
G Rps25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,974,796...3,977,155 JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,262,161...3,274,545 JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,236,238...3,252,550 JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,980,538...3,987,039 JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,569,735...3,575,987 JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,977,223...3,980,168 JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,688,086...3,702,067 JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,567,469...3,571,393 JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:3,929,555...3,931,754 JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:28492532 NCBI chrNW_004936542:4,022,928...4,035,577 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:23404334 PMID:25741868 PMID:28492532 NCBI chrNW_004936524:7,725,444...7,730,869 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23404334 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936537:4,161,095...4,247,085 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 OMIM
ClinVar		 PMID:7695243 PMID:9266738 PMID:12766226 PMID:12898257 PMID:15534250 More... NCBI chrNW_004936541:4,541,061...4,570,212 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:24234652 PMID:25741868 PMID:28492532 NCBI chrNW_004936562:2,211,519...2,262,899 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: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chrNW_004936485:9,446,425...9,462,724 JBrowse link
G Hao1 hydroxyacid oxidase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chrNW_004936485:11,435,151...11,486,042 JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chrNW_004936485:8,857,688...8,894,270 JBrowse link
G Lamp5 lysosomal associated membrane protein family member 5 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chrNW_004936485:9,952,975...9,964,358 JBrowse link
G LOC101977154 SLX4 interacting protein ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chrNW_004936485:8,907,153...9,088,595 JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chrNW_004936485:9,089,118...9,114,396 JBrowse link
G Pak5 p21 (RAC1) activated kinase 5 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chrNW_004936485:9,825,425...9,932,162 JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chrNW_004936485:10,548,966...11,254,139 JBrowse link
G Plcb4 phospholipase C beta 4 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chrNW_004936485:9,991,731...10,353,231 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:17576681 PMID:25381298 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936485:9,198,744...9,279,854 JBrowse link
G Tmx4 thioredoxin related transmembrane protein 4 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 ClinVar PMID:28492532 NCBI chrNW_004936485:11,375,768...11,415,951 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: Congenital myasthenic syndrome 19 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26626625 PMID:28492532 PMID:30767057 More... NCBI chrNW_004936521:8,588,568...8,643,786 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 chrNW_004936523:6,688,153...6,798,184 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 chrNW_004936509:4,452,382...4,470,658 JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel ClinVar PMID:9708546 PMID:20301347 PMID:20562457 PMID:22678886 PMID:24033266 More... NCBI chrNW_004936677:2,809,057...2,813,838 JBrowse link
G CUNH17orf107 chromosome unknown C17orf107 homolog ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel ClinVar PMID:9708546 PMID:20301347 PMID:20562457 PMID:22678886 PMID:24033266 More... NCBI chrNW_004936677:2,811,199...2,812,425 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: Myasthenic syndrome, congenital, 1B, fast-channel OMIM
ClinVar		 PMID:7254233 PMID:10195214 PMID:12588888 PMID:15079006 PMID:18806275 More... NCBI chrNW_004936509:4,452,382...4,470,658 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:26467025 PMID:28492532 NCBI chrNW_004936677:2,809,057...2,813,838 JBrowse link
G CUNH17orf107 chromosome unknown C17orf107 homolog ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel ClinVar PMID:8755487 PMID:17878953 PMID:26467025 PMID:28492532 NCBI chrNW_004936677:2,811,199...2,812,425 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: Congenital myasthenic syndrome 20 OMIM
ClinVar		 PMID:25741868 PMID:27569547 PMID:28492532 NCBI chrNW_004936729:1,511,648...1,534,042 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 PMID:25741868 PMID:27590285 PMID:28492532 NCBI chrNW_004936728:653,654...702,433 JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 21 OMIM
ClinVar		 PMID:25741868 PMID:27590285 PMID:28492532 NCBI chrNW_004936728:703,688...706,317 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 OMIM
ClinVar		 PMID:9536098 PMID:10737983 PMID:16199547 PMID:17576681 PMID:19782624 More... NCBI chrNW_004936508:7,637,844...7,674,232 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 chrNW_004936508:7,672,274...7,703,962 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 chrNW_004936619:3,177,868...3,181,095 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 OMIM
ClinVar		 PMID:25741868 PMID:26752647 PMID:27259756 PMID:28492532 PMID:30237576 More... NCBI chrNW_004936471:31,255,387...31,548,819 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:28492532 PMID:28600779 NCBI chrNW_004936709:1,304,843...1,313,191 JBrowse link
G Vamp1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 25, presynaptic OMIM
ClinVar		 PMID:28168212 PMID:28253535 PMID:28492532 PMID:28600779 NCBI chrNW_004936709:1,297,820...1,304,793 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 chrNW_004936509:4,452,382...4,470,658 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:17576681 More... NCBI chrNW_004936595:727,907...735,783 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 NCBI chrNW_004936595:727,907...735,783 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: Congenital myasthenic syndrome 3A OMIM
ClinVar		 PMID:11782989 PMID:25264167 PMID:25741868 PMID:28492532 NCBI chrNW_004936525:4,560,293...4,568,431 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:18398509 PMID:25264167 More... NCBI chrNW_004936525:4,560,293...4,568,431 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:16916845 PMID:25741868 PMID:28492532 NCBI chrNW_004936525:4,560,293...4,568,431 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: Congenital myasthenic syndrome 4A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel OMIM
ClinVar		 PMID:3651795 PMID:7531341 PMID:7538206 PMID:7863154 PMID:8232384 More... NCBI chrNW_004936677:2,809,057...2,813,838 JBrowse link
G CUNH17orf107 chromosome unknown C17orf107 homolog 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 chrNW_004936677:2,811,199...2,812,425 JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A ClinVar PMID:28492532 NCBI chrNW_004936677:2,774,076...2,779,660 JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A ClinVar PMID:28492532 NCBI chrNW_004936677:2,762,971...2,766,038 JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A ClinVar PMID:28492532 NCBI chrNW_004936677:2,766,724...2,771,111 JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A ClinVar PMID:28492532 NCBI chrNW_004936677:2,770,969...2,773,973 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: Congenital myasthenic syndrome 4B | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel OMIM
ClinVar		 PMID:8232384 PMID:8663316 PMID:8755487 PMID:9097970 PMID:9158150 More... NCBI chrNW_004936677:2,809,057...2,813,838 JBrowse link
G CUNH17orf107 chromosome unknown C17orf107 homolog 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:9158150 PMID:9606190 More... NCBI chrNW_004936677:2,811,199...2,812,425 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 chrNW_004936543:7,688,788...7,699,842 JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C ClinVar PMID:25741868 NCBI chrNW_004936728:653,654...702,433 JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C ClinVar PMID:10562302 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936595:727,907...735,783 JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: CMS1d | ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C OMIM
ClinVar		 PMID:8755487 PMID:8957026 PMID:9097970 PMID:9158150 PMID:9443457 More... NCBI chrNW_004936677:2,809,057...2,813,838 JBrowse link
G CUNH17orf107 chromosome unknown C17orf107 homolog ISO ClinVar Annotator: match by term: CMS1d | ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C ClinVar PMID:8755487 PMID:9158150 PMID:9536098 PMID:9708546 PMID:10211467 More... NCBI chrNW_004936677:2,811,199...2,812,425 JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936491:13,603,256...13,665,298 JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C ClinVar PMID:16199547 PMID:25695962 PMID:25741868 PMID:25900532 PMID:28492532 NCBI chrNW_004936559:2,387,019...2,486,685 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 chrNW_004936562:1,796,087...1,804,153 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: Congenital myasthenic syndrome 5 OMIM
ClinVar		 PMID:214017 PMID:9536098 PMID:9689136 PMID:9758617 PMID:10441569 More... NCBI chrNW_004936473:2,877,543...2,941,374 JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO Myasthenic syndrome, congenital, COLQ-related OMIA PMID:25166616 PMID:31769119 PMID:32668077 NCBI chrNW_004936473:2,823,183...2,856,077 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 ClinVar Annotator: match by term: Familial infantile myasthenia
DNA:frameshift mutation, missense mutations		 OMIM
ClinVar
RGD		 PMID:7616604 PMID:9073174 PMID:9536098 PMID:11172068 PMID:12548525 More... RGD:1600831 NCBI chrNW_004936728:653,654...702,433 JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar PMID:12548525 PMID:21786365 PMID:21948486 PMID:23292760 PMID:25741868 More... NCBI chrNW_004936728:703,688...706,317 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 chrNW_004936602:3,135,790...3,140,622 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 chrNW_004936567:1,941,651...1,984,422 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 chrNW_004936737:1,836,851...1,850,279 JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19631309 More... NCBI chrNW_004936737:2,010,647...2,041,401 JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,751,065...1,753,843 JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,776,550...1,778,233 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 chrNW_004936737:1,887,250...1,889,055 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 chrNW_004936737:1,877,428...1,881,345 JBrowse link
G Calml6 calmodulin like 6 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,468,172...1,470,326 JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,765,027...1,773,156 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 chrNW_004936737:1,416,475...1,465,984 JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,975,031...1,991,058 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 chrNW_004936737:1,797,348...1,811,043 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 chrNW_004936737:1,296,152...1,300,038 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 chrNW_004936737:1,658,932...1,668,081 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 chrNW_004936737:1,400,437...1,405,885 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 chrNW_004936737:1,518,855...1,554,926 JBrowse link
G Hes4 hes family bHLH transcription factor 4 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:28492532 NCBI chrNW_004936737:2,054,879...2,056,126 JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,820,472...1,833,301 JBrowse link
G Isg15 ISG15 ubiquitin like modifier ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:28492532 NCBI chrNW_004936737:2,043,383...2,044,761 JBrowse link
G Klhl17 kelch like family member 17 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:28492532 NCBI chrNW_004936737:2,080,699...2,086,252 JBrowse link
G LOC101954298 ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,816,461...1,820,353 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 chrNW_004936737:1,633,495...1,646,598 JBrowse link
G Mmp23b matrix metallopeptidase 23B ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,628,915...1,632,023 JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,760,236...1,761,776 JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,790,653...1,794,749 JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,568,304...1,579,929 JBrowse link
G Noc2l NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:28492532 NCBI chrNW_004936737:2,087,123...2,098,153 JBrowse link
G Plekhn1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:28492532 NCBI chrNW_004936737:2,072,857...2,079,855 JBrowse link
G Prkcz protein kinase C zeta ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,303,502...1,383,135 JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,833,298...1,836,101 JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,992,117...1,997,810 JBrowse link
G Scnn1d sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,851,185...1,854,923 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 chrNW_004936737:1,889,123...1,898,303 JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,223,653...1,274,664 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 chrNW_004936737:1,678,425...1,705,569 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 chrNW_004936737:1,811,123...1,814,982 JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,710,311...1,711,882 JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,466,168...1,468,003 JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 ClinVar PMID:24951643 PMID:28492532 NCBI chrNW_004936737:1,746,208...1,746,947 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 chrNW_004936737:1,905,307...1,910,356 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 chrNW_004936737:1,901,749...1,904,382 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 chrNW_004936737:1,910,286...1,926,061 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 chrNW_004936737:1,862,577...1,875,216 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 chrNW_004936737:1,733,837...1,738,861 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: Congenital myasthenic syndrome 9 OMIM
ClinVar		 PMID:15184594 PMID:15496425 PMID:18414213 PMID:19949040 PMID:20371544 More... NCBI chrNW_004936559:2,387,019...2,486,685 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 chrNW_004936509:4,452,382...4,470,658 JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936525:4,560,293...4,568,431 JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936677:2,809,057...2,813,838 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 chrNW_004936595:727,907...735,783 JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936525:4,560,293...4,568,431 JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936559:2,387,019...2,486,685 JBrowse link
G Rapsn receptor associated protein of the synapse ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936562:1,796,087...1,804,153 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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32250532 PMID:32776697 PMID:33659639 NCBI chrNW_004936567:1,941,651...1,984,422 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13624
    physical disorder 3760
      congenital myasthenic syndrome 129
        Autoimmune Limb-Girdle Myasthenia 0
        Compton-North congenital myopathy 1
        Congenital Myasthenia, Refractory to Acetylcholinesterase Inhibitors 0
        Congenital Myasthenic Syndrome 23 1
        Congenital Myasthenic Syndrome 24 1
        Congenital Myasthenic Syndrome 25 2
        Congenital Myasthenic Syndrome, Fast-Channel + 4
        Congenital Myasthenic Syndrome, with Facial Dysmorphism 0
        Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency + 4
        Limb-Girdle Myasthenia, with Tubular Aggregates 0
        Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive 1
        congenital myasthenic syndrome 10 1
        congenital myasthenic syndrome 11 1
        congenital myasthenic syndrome 12 1
        congenital myasthenic syndrome 13 37
        congenital myasthenic syndrome 14 1
        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 4
        congenital myasthenic syndrome 20 1
        congenital myasthenic syndrome 21 2
        congenital myasthenic syndrome 22 2
        congenital myasthenic syndrome 2A 2
        congenital myasthenic syndrome 2C 1
        congenital myasthenic syndrome 3A 1
        congenital myasthenic syndrome 3B 1
        congenital myasthenic syndrome 3C 1
        congenital myasthenic syndrome 4A 6
        congenital myasthenic syndrome 4C 8
        congenital myasthenic syndrome 5 2
        congenital myasthenic syndrome 6 3
        congenital myasthenic syndrome 7 1
        congenital myasthenic syndrome 8 43
        congenital myasthenic syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 13624
    disease of anatomical entity 13360
      nervous system disease 11358
        peripheral nervous system disease 2757
          neuropathy 2581
            neuromuscular disease 2037
              neuromuscular junction disease 153
                congenital myasthenic syndrome 129
                  Autoimmune Limb-Girdle Myasthenia 0
                  Compton-North congenital myopathy 1
                  Congenital Myasthenia, Refractory to Acetylcholinesterase Inhibitors 0
                  Congenital Myasthenic Syndrome 23 1
                  Congenital Myasthenic Syndrome 24 1
                  Congenital Myasthenic Syndrome 25 2
                  Congenital Myasthenic Syndrome, Fast-Channel + 4
                  Congenital Myasthenic Syndrome, with Facial Dysmorphism 0
                  Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency + 4
                  Limb-Girdle Myasthenia, with Tubular Aggregates 0
                  Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive 1
                  congenital myasthenic syndrome 10 1
                  congenital myasthenic syndrome 11 1
                  congenital myasthenic syndrome 12 1
                  congenital myasthenic syndrome 13 37
                  congenital myasthenic syndrome 14 1
                  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 4
                  congenital myasthenic syndrome 20 1
                  congenital myasthenic syndrome 21 2
                  congenital myasthenic syndrome 22 2
                  congenital myasthenic syndrome 2A 2
                  congenital myasthenic syndrome 2C 1
                  congenital myasthenic syndrome 3A 1
                  congenital myasthenic syndrome 3B 1
                  congenital myasthenic syndrome 3C 1
                  congenital myasthenic syndrome 4A 6
                  congenital myasthenic syndrome 4C 8
                  congenital myasthenic syndrome 5 2
                  congenital myasthenic syndrome 6 3
                  congenital myasthenic syndrome 7 1
                  congenital myasthenic syndrome 8 43
                  congenital myasthenic syndrome 9 1
paths to the root