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 8
Accession: DOID:0110657
browse the term
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. (DO)
Synonyms: exact_synonym: CMS8; CMSPPD; congenital myasthenic syndrome 8 with pre- and postsynaptic defects; congenital myasthenic syndrome due to agrin deficiency; congenital myasthenic syndrome, with pre- and postsynaptic defects
primary_id: OMIM:615120
alt_id: RDO:9000868; RDO:9003080
For additional species annotation, visit the
Alliance of Genome Resources .
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Acap3
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,340,060...173,354,756
Ensembl chr 5:173,340,060...173,354,755
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Agrn
agrin
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar OMIM
PMID:18414213 PMID:19631309 PMID:22205389 PMID:24951643 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30994901
NCBI chr 5:173,589,910...173,622,813
Ensembl chr 5:173,589,819...173,622,645
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Ankrd65
ankyrin repeat domain 65
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,237,642...173,239,899
Ensembl chr 5:173,237,642...173,239,899
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Atad3a
ATPase family, AAA domain containing 3A
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768
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Aurkaip1
aurora kinase A interacting protein 1
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,274,433...173,276,170
Ensembl chr 5:173,256,637...173,276,169
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B3galt6
Beta-1,3-galactosyltransferase 6
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611
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C1qtnf12
C1q and TNF related 12
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,390,901...173,395,276
Ensembl chr 5:173,390,901...173,395,276
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Ccnl2
cyclin L2
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,256,301...173,268,279
Ensembl chr 5:173,256,637...173,276,169
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Cdk11b
cyclin-dependent kinase 11B
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,051,900...173,078,049
Ensembl chr 5:173,052,063...173,078,046
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Cfap74
cilia and flagella associated protein 74
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:172,817,221...172,884,996
Ensembl chr 5:172,825,072...172,858,053
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Cptp
ceramide-1-phosphate transfer protein
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,314,219...173,318,384
Ensembl chr 5:173,314,228...173,318,313
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Dvl1
dishevelled segment polarity protein 1
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
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Faap20
FA core complex associated protein 20
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:172,648,171...172,655,576
Ensembl chr 5:172,648,950...172,655,576
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Fndc10
fibronectin type III domain containing 10
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,139,345...173,141,564
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Gabrd
gamma-aminobutyric acid type A receptor subunit delta
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
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Gnb1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
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Ints11
integrator complex subunit 11
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,318,435...173,336,930
Ensembl chr 5:173,318,479...173,336,930
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Mib2
MIB E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,082,943...173,099,353
Ensembl chr 5:173,082,943...173,098,816
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Mir200a
microRNA 200a
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,489,366...173,489,454
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Mir200b
microRNA 200b
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,490,144...173,490,238
Ensembl chr 5:173,490,144...173,490,238
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Mir429
microRNA 429
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,488,331...173,488,415
Ensembl chr 5:173,488,331...173,488,415
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Mmp23
matrix metallopeptidase 23
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,078,811...173,082,834
Ensembl chr 5:173,078,590...173,081,839
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Mrpl20
mitochondrial ribosomal protein L20
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,248,245...173,252,775
Ensembl chr 5:173,248,245...173,252,775
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Mxra8
matrix remodeling associated 8
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,288,200...173,292,926
Ensembl chr 5:173,288,447...173,292,929
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Nadk
NAD kinase
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:172,984,930...173,015,505
Ensembl chr 5:172,986,291...173,015,494
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Prkcz
protein kinase C, zeta
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:172,658,071...172,769,492
Ensembl chr 5:172,658,748...172,769,421
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Pusl1
pseudouridine synthase like 1
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,326,755...173,339,934
Ensembl chr 5:173,336,034...173,340,026
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RGD1311517
similar to RIKEN cDNA 9430015G10
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,542,058...173,559,761
Ensembl chr 5:173,542,358...173,559,761
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Rnf223
ring finger protein 223
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,561,016...173,566,844
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Sdf4
stromal cell derived factor 4
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,425,922...173,444,478
Ensembl chr 5:173,425,907...173,444,620
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Ski
SKI proto-oncogene
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899
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Slc35e2b
solute carrier family 35, member E2B
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,024,335...173,050,228
Ensembl chr 5:173,024,335...173,046,194
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Ssu72
SSU72 homolog, RNA polymerase II CTD phosphatase
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,152,964...173,182,720
Ensembl chr 5:173,152,964...173,182,719
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Tas1r3
taste 1 receptor member 3
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,307,325...173,312,950
Ensembl chr 5:173,308,870...173,312,023
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Tmem240
transmembrane protein 240
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,182,815...173,189,683
Ensembl chr 5:173,183,990...173,188,924
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Tmem52
transmembrane protein 52
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:172,887,587...172,889,349
Ensembl chr 5:172,887,217...172,889,383
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Tmem88b
transmembrane protein 88B
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,230,364...173,233,188
Ensembl chr 5:173,230,364...173,233,188
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Tnfrsf18
TNF receptor superfamily member 18
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
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Tnfrsf4
TNF receptor superfamily member 4
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
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Ttll10
tubulin tyrosine ligase like 10
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,471,020...173,517,783
Ensembl chr 5:173,471,010...173,484,986
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Ube2j2
ubiquitin-conjugating enzyme E2, J2
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,372,659...173,387,084
Ensembl chr 5:173,372,669...173,387,104
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Vwa1
von Willebrand factor A domain containing 1
ISO
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 8
ClinVar
PMID:24951643 PMID:28492532
NCBI chr 5:173,216,737...173,221,923
Ensembl chr 5:173,216,741...173,222,440
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