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GENE - TERM ANNOTATION REPORT

RGD ID: 9029450
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Ccdc107
Name: coiled-coil domain containing 107
Acc ID: DOID:9007249
Term: Metaphyseal Dysplasia without Hypotrichosis
Definition: null
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)
Ccdc107 ISOCCDC107 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cartilage-hair hypoplasia variant, skeletal manifestations onlyPMID:10026268 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:18804272 PMID:25741868 PMID:28094436 PMID:28492532 PMID:8034306 PMID:8444246 PMID:9156319
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