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GENE - TERM ANNOTATION REPORT

RGD ID: 12102686
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: WNK1
Name: WNK lysine deficient protein kinase 1
Acc ID: DOID:0070155
Term: hereditary sensory and autonomic neuropathy type 2A
Definition: A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/14152533 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15060842 "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)
WNK1 ISOWNK1 (Homo sapiens)7240710OMIM  
WNK1 ISOWNK1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ACROOSTEOLYSIS, NEUROGENIC | ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2APMID:15060842 PMID:15455397 PMID:15911806 PMID:16199547 PMID:16534117 PMID:16636245 PMID:16946995 PMID:17344846 PMID:17576681 PMID:18521183 PMID:18580052 PMID:19651702 PMID:21089229 PMID:21530900 PMID:21625937 PMID:22302274 PMID:22910560 PMID:22934535 PMID:23149595 PMID:25640679 PMID:25741868 PMID:26467025 PMID:27066579 PMID:27671536 PMID:27765018 PMID:28422281 PMID:28492532 PMID:29701257 PMID:30497409 PMID:31132985 PMID:9536098
WNK1 ISOWNK1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2APMID:15060842 PMID:15455397 PMID:15911806 PMID:16199547 PMID:16534117 PMID:16636245 PMID:16946995 PMID:17344846 PMID:17576681 PMID:18521183 PMID:18580052 PMID:19651702 PMID:21089229 PMID:21530900 PMID:21625937 PMID:22073419 PMID:22302274 PMID:22910560 PMID:22934535 PMID:23149595 PMID:25640679 PMID:25741868 PMID:26467025 PMID:27066579 PMID:27671536 PMID:27765018 PMID:28422281 PMID:28492532 PMID:28518168 PMID:29701257 PMID:30497409 PMID:31132985 PMID:31949730 PMID:32461654 PMID:33726816 PMID:9536098
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