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GENE - TERM ANNOTATION REPORT

RGD ID: 11937404
Species: Pan paniscus
RGD Object: Gene
Symbol: LOC100978046
Name: gamma-crystallin D
Acc ID: DOID:0110234
Term: cataract 4 multiple types
Definition: A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33. (DO)
Definition Source(s): PMID:9927684 "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)
LOC100978046 ISOCRYGD (Homo sapiens)7240710OMIM  
LOC100978046 ISOCRYGD (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CATARACT 4, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 4 | ClinVar Annotator: match by term: Cataract 4 multiple typesPMID:10521291 PMID:10688888 PMID:10915766 PMID:11371638 PMID:12011157 PMID:12676897 PMID:16446699 PMID:17564961 PMID:17724170 PMID:18587492 PMID:19382745 PMID:19390652 PMID:19668596 PMID:21527994 PMID:21827768 PMID:22219628 PMID:22995991 PMID:23508780 PMID:2350878024465161 PMID:23936409 PMID:24465161 PMID:25403472 PMID:25741868 PMID:26694549 PMID:28450710 PMID:28474685 PMID:28492532 PMID:29914532 PMID:32830442 PMID:33243271 PMID:9927684
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