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GENE - TERM ANNOTATION REPORT

RGD ID: 1306723
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Prickle2
Name: prickle planar cell polarity protein 2
Acc ID: DOID:0111276
Term: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Definition: A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12565911 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20220442 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9222196 "DO" "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)
Prickle2 ISOPRICKLE2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisPMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26942291 PMID:26942292 PMID:28492532 PMID:29358611 PMID:9536098
Prickle2 ISOPRICKLE2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisPMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26942291 PMID:26942292 PMID:28166811 PMID:28492532 PMID:29358611 PMID:9536098
Prickle2 ISOPRICKLE2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisPMID:21276947 PMID:25326635 PMID:25741868 PMID:26942291 PMID:26942292
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