Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 11927225
Species: Pan paniscus
RGD Object: Gene
Symbol: CA4
Name: carbonic anhydrase 4
Acc ID: DOID:10584
Term: retinitis pigmentosa
Definition: Hereditary, progressive degeneration of the retina due to death of ROD PHOTORECEPTORS initially and subsequent death of CONE PHOTORECEPTORS. It is characterized by deposition of pigment in the retina.
Definition Source(s): MESH:D012174, url:http://en.wikipedia.org/wiki/Retinitis_pigmentosa "DO", url:http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa "DO", url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/ "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)
CA4susceptibilityISORGD:13534299068941RGD PMID:15090652, REF_RGD_ID:1600730
CA4 ISORGD:116127919068941ClinVarClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant

 
CA4 ISORGD:116135979068941ClinVarClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant

 
CA4 ISORGD:116144849068941ClinVarClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant

 
CA4 ISORGD:116189719068941ClinVarClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant

PMID:28492532
CA4 ISORGD:116204899068941ClinVarClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant

 
CA4 ISORGD:116232229068941ClinVarClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant

PMID:28492532
CA4 ISORGD:116246079068941ClinVarClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant

 
CA4 ISORGD:116254469068941ClinVarClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant

 
CA4 ISORGD:116256959068941ClinVarClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant

PMID:28492532
CA4 ISORGD:116272329068941ClinVarClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant

 
CA4 ISORGD:116287739068941ClinVarClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant

PMID:28492532
CA4 ISORGD:116288109068941ClinVarClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant

 
CA4 ISORGD:116300749068941ClinVarClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant

 
CA4 ISORGD:116310589068941ClinVarClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant

PMID:28492532
CA4 ISORGD:116312779068941ClinVarClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant

 
CA4 ISORGD:116313999068941ClinVarClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant

 
CA4 ISORGD:116526469068941ClinVarClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant

 
CA4 ISORGD:135395589068941ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
CA4 ISORGD:151099739068941ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
CA4 ISORGD:151361019068941ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
CA4 ISORGD:151595899068941ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
CA4 ISORGD:151982799068941ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
CA4 ISORGD:288976849068941ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
CA4 ISORGD:289002669068941ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
CA4 ISORGD:289002709068941ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
CA4 ISORGD:289062499068941ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
CA4 ISORGD:289062549068941ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
CA4 ISORGD:86006469068941ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:15090652, PMID:15563508, PMID:7581389, PMID:9385361
CA4 ISORGD:86469189068941ClinVarClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant

 
CA4 ISORGD:86469199068941ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
Go Back to source page   Continue to Ontology report

NHLBI Logo

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