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GENE - TERM ANNOTATION REPORT

RGD ID: 1352684
Species: Homo sapiens
RGD Object: Gene
Symbol: HCCS
Name: holocytochrome c synthase
Acc ID: DOID:10629
Term: microphthalmia
Definition: An eye disease where one or both eyeballs are abnormally small. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Microphthalmia "DO" "DO", http://ghr.nlm.nih.gov/condition/microphthalmia "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)
HCCS IAGP 1600417RGDmicrophthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C 
HCCS ISSHccs (Mus musculus)13592920MouseDOOMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 
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