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GENE - TERM ANNOTATION REPORT

CRRD ID: 732475
Species: Homo sapiens
CRRD Object: Gene
Symbol: CHM
Name: CHM Rab escort protein
Acc ID: DOID:9821
Term: Choroideremia
Definition: An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness.
Definition Source(s): MESH:D015794
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)
 IAGP 7240710OMIM  
 IAGPRGD:100416278554872ClinVarClinVar Annotator: match by term: Choroideremia

PMID:10447648, PMID:12203991, PMID:12827496, PMID:16936131
 IAGPRGD:115793768554872ClinVarClinVar Annotator: match by term: Choroideremia

PMID:16087855, PMID:25741868, PMID:26133251, PMID:28492532
 IAGPRGD:116344008554872ClinVarClinVar Annotator: match by term: Choroideremia

 
 IAGPRGD:127405498554872ClinVarClinVar Annotator: match by term: Choroideremia

 
 IAGPRGD:135260798554872ClinVarClinVar Annotator: match by term: Choroideremia

PMID:22957832
 IAGPRGD:146979488554872ClinVarClinVar Annotator: match by term: Choroideremia

 
 IAGPRGD:146981908554872ClinVarClinVar Annotator: match by term: Choroideremia

 
 IAGPRGD:85622088554872ClinVarClinVar Annotator: match by term: Choroideremia, salla type

PMID:1302003, PMID:7981670
 IAGPRGD:85622108554872ClinVarClinVar Annotator: match by term: Choroideremia

PMID:1598901, PMID:9175730
 IAGPRGD:85622118554872ClinVarClinVar Annotator: match by term: Choroideremia

PMID:1598901, PMID:9175730
 IAGPRGD:85622128554872ClinVarClinVar Annotator: match by term: Choroideremia

PMID:1598901, PMID:9175730
 IAGPRGD:85622148554872ClinVarClinVar Annotator: match by term: Choroideremia

PMID:8477262
 IAGPRGD:85622158554872ClinVarClinVar Annotator: match by term: Choroideremia

PMID:12827496, PMID:21905166, PMID:7981670
 IAGPRGD:85622168554872ClinVarClinVar Annotator: match by term: Choroideremia

PMID:12827496
 IAGPRGD:85706538554872ClinVarClinVar Annotator: match by term: Choroideremia

PMID:21905166
 IAGPRGD:86169578554872ClinVarClinVar Annotator: match by term: Choroideremia

PMID:1302003
 IAGPRGD:94802848554872ClinVarClinVar Annotator: match by term: Choroideremia

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