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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking CYP27A1 and cerebrotendinous xanthomatosis in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with CYP27A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 49 RGD objects have been annotated to cerebrotendinous xanthomatosis  (DOID:4810)
  • 0 papers in RGD have been used to annotate CYP27A1


    • An association has been curated linking CYP27A1 and cerebrotendinous xanthomatosis in Pan paniscus.        

  • 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 CYP27A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 49 RGD objects have been annotated to cerebrotendinous xanthomatosis  (DOID:4810)
  • 0 papers in RGD have been used to annotate CYP27A1
  • Curation Notes: ClinVar Annotator: match by term: Cholestanol storage disease
  • Original References(s): PMID:10206677 PMID:10406988 PMID:10430841 PMID:10519880 PMID:10741487 PMID:10775536 PMID:11181744 PMID:11313766 PMID:11737215 PMID:11903362 PMID:12000359 PMID:12270007 PMID:12555943 PMID:12933951 PMID:14741198 PMID:14999499 PMID:15795599 PMID:16157755 PMID:16199547 PMID:16278884 PMID:16372260 PMID:16816916 PMID:17030721 PMID:17319284 PMID:17444890 PMID:17576681 PMID:17697869 PMID:18227423 PMID:18414213 PMID:19092443 PMID:19204079 PMID:19373932 PMID:2019602 PMID:20301583 PMID:20402754 PMID:20450308 PMID:20558929 PMID:20602799 PMID:20925952 PMID:20981092 PMID:21073839 PMID:21228398 PMID:21345536 PMID:21404287 PMID:21553098 PMID:21627786 PMID:21645175 PMID:21764626 PMID:21955034 PMID:21958693 PMID:21966169 PMID:22018287 PMID:22197981 PMID:22336472 PMID:22849591 PMID:22878431 PMID:23212406 PMID:23287330 PMID:23659550 PMID:24002088 PMID:24033266 PMID:24080357 PMID:24174808 PMID:24584636 PMID:24627108 PMID:24746394 PMID:25112387 PMID:25447658 PMID:25525159 PMID:25558065 PMID:25741868 PMID:25862734 PMID:25941960 PMID:25983621 PMID:26156051 PMID:26206375 PMID:26467025 PMID:26519892 PMID:26622071 PMID:26643207 PMID:26861945 PMID:26906304 PMID:26937392 PMID:27084087 PMID:27142713 PMID:27225395 PMID:27455001 PMID:27535533 PMID:27678445 PMID:27680221 PMID:27858369 PMID:27878435 PMID:27879219 PMID:27884173 PMID:28229379 PMID:28324197 PMID:28337550 PMID:28492532 PMID:28590052 PMID:28623566 PMID:28749476 PMID:28894950 PMID:28937538 PMID:29095540 PMID:29242796 PMID:29260356 PMID:29269672 PMID:29321515 PMID:29434128 PMID:30366773 PMID:31384146 PMID:31450232 PMID:31589614 PMID:31736580 PMID:31743419 PMID:31796091 PMID:32523054 PMID:32552793 PMID:32581172 PMID:32714376 PMID:32793533 PMID:33020668 PMID:33313117 PMID:33400472 PMID:33414089 PMID:33458645 PMID:33520900 PMID:33624863 PMID:33659184 PMID:33830582 PMID:33977023 PMID:34012265 PMID:34103343 PMID:34145886 PMID:34234304 PMID:34426522 PMID:34689324 PMID:34930075 PMID:35949830 PMID:36530930 PMID:36537231 PMID:36628393 PMID:37147621 PMID:37239101 PMID:39825153 PMID:7697869 PMID:7860076 PMID:7915755 PMID:8006521 PMID:8014582 PMID:8309576 PMID:8514861 PMID:8730343 PMID:8827518 PMID:8931710 PMID:8950197 PMID:9008528 PMID:9186905 PMID:9254865 PMID:9392430 PMID:9521761 PMID:9536098 PMID:9548584 PMID:9654207 PMID:9790667


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