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GENE - TERM ANNOTATION REPORT

RGD ID: 1563968
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ndp
Name: norrin cystine knot growth factor NDP
Acc ID: DOID:0111413
Term: X-linked exudative vitreoretinopathy 2
Definition: An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8252044 "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)
Ndp ISONDP (Homo sapiens)8694209RGDDNA:missense mutation: :p.L124F (human) 
Ndp ISONDP (Homo sapiens)7240710OMIM  
Ndp ISONDP (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Ndp ISONDP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Exudative vitreoretinopathy 2, X-linked | ClinVar Annotator: match by term: Exudative vitreoretinopathy, X-linkedPMID:11337749 PMID:1307245 PMID:17050281 PMID:17296899 PMID:20491809 PMID:25741868 PMID:26158506 PMID:28492532 PMID:7558002 PMID:7795608 PMID:8252044 PMID:8457509 PMID:8535448 PMID:8832723 PMID:8946107 PMID:9143917 PMID:9382152 PMID:95062 PMID:9618247
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