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GENE - TERM ANNOTATION REPORT

RGD ID: 2324133
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cdkl5
Name: cyclin-dependent kinase-like 5
Acc ID: DOID:1206
Term: Rett syndrome
Definition: A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. (DO)
Definition Source(s): http://www.nichd.nih.gov/health/topics/rett_syndrome.cfm "DO" "DO", http://www.ninds.nih.gov/disorders/rett/detail_rett.htm "DO" "DO", https://medlineplus.gov/ency/article/001536.htm "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)
Cdkl5 ISOCDKL5 (Homo sapiens)11070543RGDDNA:missense mutations:cds: 
Cdkl5 ISOCDKL5 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:19241098
Cdkl5 ISOCDKL5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Rett syndromePMID:16015284 PMID:18414213 PMID:19241098 PMID:19396824 PMID:25657822 PMID:27779742 PMID:28074849 PMID:28492532 PMID:30266825
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