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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:0050548
Term: hereditary sensory neuropathy
Definition: A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. (DO)
Definition Source(s): http://omim.org/entry/616488?search=616488&highlight=616488 "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)8554872ClinVarClinVar Annotator: match by term: Hereditary sensory radicular neuropathy, recessive form | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neuropathy, congenital sensoryPMID:25741868 PMID:26467025 PMID:28492532 PMID:28518168 PMID:32461654
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