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GENE - TERM ANNOTATION REPORT

RGD ID: 1347044
Species: Homo sapiens
RGD Object: Gene
Symbol: CPAMD8
Name: C3 and PZP like alpha-2-macroglobulin domain containing 8
Acc ID: DOID:0060648
Term: anterior segment dysgenesis
Definition: An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/10025/anterior-segment-dysgenesis "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17914436 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/30242500 "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)
CPAMD8 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
CPAMD8 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anterior segment dysgenesisPMID:25741868 PMID:27839872 PMID:32499604
CPAMD8 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anterior segment dysgenesisPMID:32499604
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