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GENE - TERM ANNOTATION REPORT

RGD ID: 1566416
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Dok7
Name: docking protein 7
Acc ID: DOID:0110668
Term: congenital myasthenic syndrome 10
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/22884442/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/16917026 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Dok7 ISODOK7 (Homo sapiens)7240710OMIM  
Dok7 ISODOK7 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Dok7 ISODOK7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital myasthenic syndrome 10PMID:10222457 PMID:1483054 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 PMID:17452375 PMID:17576681 PMID:18161030 PMID:18165682 PMID:18567858 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20610155 PMID:21041412 PMID:21520333 PMID:21850686 PMID:22230109 PMID:2261499 PMID:22661499 PMID:22884442 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24033266 PMID:24088041 PMID:25033858 PMID:25237101 PMID:25326635 PMID:25326637 PMID:25557462 PMID:25741868 PMID:25849006 PMID:26467025 PMID:26583494 PMID:26633545 PMID:27391121 PMID:28024842 PMID:28492532 PMID:28716243 PMID:29054425 PMID:29118959 PMID:30266093 PMID:31618753 PMID:31880392 PMID:33146414 PMID:9536098
Dok7 ISSDok7 (Mus musculus)13592920MouseDOOMIM:254300 
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