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GENE - TERM ANNOTATION REPORT

RGD ID: 734154
Species: Mus musculus
RGD Object: Gene
Symbol: Ptprn
Name: protein tyrosine phosphatase receptor type N
Acc ID: DOID:0111214
Term: autosomal recessive distal hereditary motor neuronopathy 5
Definition: An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22522442 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25274842 "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)
Ptprn ISOPTPRN (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5PMID:28492532
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