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GENE - TERM ANNOTATION REPORT

RGD ID: 1606753
Species: Homo sapiens
RGD Object: Gene
Symbol: TMEM67
Name: transmembrane protein 67
Acc ID: DOID:9000343
Term: Vision Disorders
Definition: Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132).
Definition Source(s): MESH:D014786
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)
TMEM67 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Visual impairmentPMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532
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