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GENE - TERM ANNOTATION REPORT

RGD ID: 11939731
Species: Pan paniscus
RGD Object: Gene
Symbol: SPINK5
Name: serine peptidase inhibitor Kazal type 5
Acc ID: DOID:0050474
Term: Netherton syndrome
Definition: A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/netherton-syndrome "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)
SPINK5 ISOSPINK5 (Homo sapiens)7240710OMIM  
SPINK5 ISOSPINK5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: COMEL-NETHERTON SYNDROME | ClinVar Annotator: match by term: Ichthyosis linearis circumflexa | ClinVar Annotator: match by term: Netherton disease | ClinVar Annotator: match by term: Netherton syndromePMID:10835624 PMID:11511292 PMID:11544479 PMID:11841556 PMID:12752122 PMID:12923596 PMID:15304086 PMID:15656819 PMID:16199547 PMID:16601670 PMID:16628198 PMID:17415575 PMID:17576681 PMID:18577046 PMID:19683336 PMID:19840201 PMID:20107740 PMID:21255986 PMID:21564178 PMID:22089833 PMID:22377713 PMID:23331056 PMID:24015757 PMID:24033266 PMID:25640679 PMID:25665175 PMID:25710899 PMID:25741868 PMID:25819062 PMID:26031502 PMID:26193622 PMID:26229701 PMID:26865388 PMID:27905021 PMID:27988933 PMID:28289593 PMID:28492532 PMID:28832562 PMID:28832989 PMID:28943498 PMID:29444371 PMID:29926005 PMID:30293248 PMID:30477583 PMID:31288584 PMID:31795557 PMID:31953843 PMID:32441320 PMID:32459284 PMID:32573669 PMID:32709676 PMID:33452875 PMID:34138484 PMID:34604321 PMID:36169939 PMID:9536098
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