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GENE - TERM ANNOTATION REPORT

RGD ID: 1311417
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col7a1
Name: collagen type VII alpha 1 chain
Acc ID: DOID:0080082
Term: nonsyndromic congenital nail disorder 4
Definition: A nail disease that is characterized by absence of fingernails and toenails, has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/anonychia-congenita
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Anonychia

PMID:11781296, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16971478, PMID:19681861, PMID:20598510, PMID:22266148, PMID:24033266, PMID:25741868, PMID:28492532, PMID:8755915
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4

PMID:25741868
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.