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GENE - TERM ANNOTATION REPORT

RGD ID: 1562570
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Abhd12
Name: abhydrolase domain containing 12
Acc ID: DOID:0080181
Term: PHARC syndrome
Definition: An autosomal recessive disease that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24697911
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)
 ISORGD:13146047240710OMIM  
 ISORGD:13146048554872ClinVarClinVar Annotator: match by OMIM:612674

 
 ISORGD:13146048554872ClinVarClinVar Annotator: match by OMIM:612674

PMID:20797687
 ISORGD:13146048554872ClinVarClinVar Annotator: match by OMIM:612674

PMID:20797687, PMID:23806086, PMID:24088041, PMID:26257172
 ISORGD:13146048554872ClinVarClinVar Annotator: match by OMIM:612674

PMID:24697911
 ISORGD:13146048554872ClinVarClinVar Annotator: match by term: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

PMID:25741868
 ISORGD:13146048554872ClinVarClinVar Annotator: match by term: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

PMID:28492532
 ISORGD:13146048554872ClinVarClinVar Annotator: match by term: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

PMID:29571850
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.