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GENE - TERM ANNOTATION REPORT

RGD ID: 735186
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Evc
Name: EvC ciliary complex subunit 1
Acc ID: DOID:0111571
Term: Weyers acrofacial dysostosis
Definition: An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/weyers-acrofacial-dysostosis "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/10700184 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/16404586 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9399901 "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)
Evc ISOEVC (Homo sapiens)7240710OMIM  
Evc ISOEVC (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Evc ISOEVC (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Acrofacial dysostosis of Weyers | ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSISPMID:10700184 PMID:16199547 PMID:17576681 PMID:18947413 PMID:19251731 PMID:19810119 PMID:19876929 PMID:23220543 PMID:25741868 PMID:27453244 PMID:28492532 PMID:7635486 PMID:9536098
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