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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ppt1 and neuronal ceroid lipofuscinosis in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with PPT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 218 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 12 papers in RGD have been used to annotate Ppt1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:10191107 PMID:10477428 PMID:10649502 PMID:10679943 PMID:10781062 PMID:11001811 PMID:11073228 PMID:11332767 PMID:11440996 PMID:11506414 PMID:11589012 PMID:12382155 PMID:14997939 PMID:15965709 PMID:16199547 PMID:16644870 PMID:16759889 PMID:17044973 PMID:17261688 PMID:17565660 PMID:18704195 PMID:19302939 PMID:19440452 PMID:19793312 PMID:19793631 PMID:19941651 PMID:20301601 PMID:21228398 PMID:21499717 PMID:21990111 PMID:22387303 PMID:23374165 PMID:23539563 PMID:23772246 PMID:23857568 PMID:24082928 PMID:24997880 PMID:25205113 PMID:2538469 PMID:25525159 PMID:25574475 PMID:25741868 PMID:26467025 PMID:26707855 PMID:26795593 PMID:28492532 PMID:28878621 PMID:29631617 PMID:30842224 PMID:30952489 PMID:31741823 PMID:33561134 PMID:35217970 PMID:7637805 PMID:9425237 PMID:9571187 PMID:9664077 PMID:9733046 PMID:9793631


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