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GENE - TERM ANNOTATION REPORT

CRRD ID: 11880623
Species: Pan paniscus
CRRD Object: Gene
Symbol: C1QTNF5
Name: C1q and TNF related 5
Acc ID: DOID:0060837
Term: isolated microphthalmia 5
Definition: A microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17167404, https://www.ncbi.nlm.nih.gov/pubmed/18554571, https://www.ncbi.nlm.nih.gov/pubmed/19753314
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISSRGD:13187849068941ClinVarClinVar Annotator: match by term: Microphthalmia, isolated 5

 
 ISSRGD:13187849068941ClinVarClinVar Annotator: match by term: Microphthalmia, isolated 5

PMID:1258954, PMID:15976030, PMID:20361016
 ISSRGD:13187849068941ClinVarClinVar Annotator: match by term: Microphthalmia, isolated 5

PMID:15976030, PMID:17167404, PMID:18554571, PMID:19753314, PMID:20361016, PMID:22605927
 ISSRGD:13187849068941ClinVarClinVar Annotator: match by term: Microphthalmia, isolated 5

PMID:20361016, PMID:23742260
 ISSRGD:13187849068941ClinVarClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen

PMID:15976030
 ISSRGD:13187849068941ClinVarClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen

PMID:17167404
 ISSRGD:13187849068941ClinVarClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen

PMID:19753314
 ISSRGD:13187849068941ClinVarClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen

PMID:20361016
 ISSRGD:13187849068941ClinVarClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen

PMID:21670352
 ISSRGD:13187849068941ClinVarClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen

PMID:24088041, PMID:26633545
 ISSRGD:13187849068941ClinVarClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen

PMID:25741868
 ISSRGD:13187849068941ClinVarClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen

PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.