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GENE - TERM ANNOTATION REPORT

RGD ID: 1307679
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Clp1
Name: cleavage factor polyribonucleotide kinase subunit 1
Acc ID: DOID:0060279
Term: pontocerebellar hypoplasia type 10
Definition: A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene. (DO)
Definition Source(s): https://www.omim.org/entry/615803 "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)
Clp1 ISOCLP1 (Homo sapiens)7240710OMIM  
Clp1 ISOCLP1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Clp1 ISOCLP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pontocerebellar hypoplasia type 10PMID:24766809 PMID:24766810 PMID:25741868 PMID:29307788
Clp1 ISSClp1 (Mus musculus)13592920MouseDOOMIM:615803 
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