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GENE - TERM ANNOTATION REPORT

RGD ID: 1307977
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Atp13a2
Name: ATPase cation transporting 13A2
Acc ID: DOID:0060556
Term: Kufor-Rakeb syndrome
Definition: An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15986421, https://www.ncbi.nlm.nih.gov/pubmed/23791710
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:13429117240710OMIM  
 ISORGD:13429118554872ClinVarClinVar Annotator: match by OMIM:606693

 
 ISORGD:13429118554872ClinVarClinVar Annotator: match by OMIM:606693

PMID:16964263, PMID:21724849
 ISORGD:13429118554872ClinVarClinVar Annotator: match by OMIM:606693

PMID:17485642
 ISORGD:13429118554872ClinVarClinVar Annotator: match by OMIM:606693

PMID:20853184
 ISORGD:13429118554872ClinVarClinVar Annotator: match by OMIM:606693

PMID:21094623
 ISORGD:13429118554872ClinVarClinVar Annotator: match by OMIM:606693

PMID:22388936, PMID:495089
 ISORGD:13429118554872ClinVarClinVar Annotator: match by OMIM:606693

PMID:24088041, PMID:26633545
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:12169656, PMID:18075584, PMID:18075585, PMID:18414213, PMID:19085912, PMID:19458722, PMID:19705361, PMID:25741868, PMID:28492532
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:16964263, PMID:21060012, PMID:21665991, PMID:22768177, PMID:28492532
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:16964263, PMID:21696388, PMID:26467025, PMID:28492532
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:16964263, PMID:21696388, PMID:28492532
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:17485642, PMID:18414213, PMID:22743658, PMID:25741868, PMID:26467025, PMID:28492532
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:17485642, PMID:22768177, PMID:23499937, PMID:25374329, PMID:25466404, PMID:28492532
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:18414213, PMID:19705361, PMID:22743658, PMID:22995991, PMID:25741868, PMID:26467025, PMID:27294386, PMID:28492532
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:18414213, PMID:25741868
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:18414213, PMID:25741868, PMID:26467025
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:18414213, PMID:28492532
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:20816920, PMID:22743658, PMID:25741868, PMID:28492532
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:21542062, PMID:22296644, PMID:24399444, PMID:28492532
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:25466404, PMID:26467025, PMID:28492532
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:25741868
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:25741868, PMID:26467025
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:25741868, PMID:26467025, PMID:28492532
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:25741868, PMID:28492532
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:26467025
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:26467025, PMID:28492532
 ISORGD:13429118554872ClinVarClinVar Annotator: match by term: Parkinson disease 9

PMID:28492532
 ISORGD:134291111554173CTDCTD Direct Evidence: marker/mechanism

PMID:22022275, PMID:22768177, PMID:22847264
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.