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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Star and congenital adrenal hyperplasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Caron KM, etal., Proc Natl Acad Sci U S A. 1997 Oct 14;94(21):11540-5.
  • The annotation has been inferred from sequence orthology with Star (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Caron KM, etal., Proc Natl Acad Sci U S A. 1997 Oct 14;94(21):11540-5.
  • 21 RGD objects have been annotated to congenital adrenal hyperplasia  (DOID:0050811)
  • 94 papers in RGD have been used to annotate Star


    • An association has been curated linking Star and congenital adrenal hyperplasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Tee MK, etal., Hum Mol Genet. 1995 Dec;4(12):2299-305.
  • The annotation has been inferred from sequence orthology with STAR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Tee MK, etal., Hum Mol Genet. 1995 Dec;4(12):2299-305.
  • 21 RGD objects have been annotated to congenital adrenal hyperplasia  (DOID:0050811)
  • 94 papers in RGD have been used to annotate Star
  • Qualifier: susceptibility
  • Curation Notes: DNA:transversion:intron:g.IVS4-11T>A (human)


    • An association has been curated linking Star and congenital adrenal hyperplasia in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with STAR (Homo sapiens)
  • 21 RGD objects have been annotated to congenital adrenal hyperplasia  (DOID:0050811)
  • 94 papers in RGD have been used to annotate Star
  • Curation Notes: OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110


    • An association has been curated linking Star and congenital adrenal hyperplasia in Rattus norvegicus.        

  • 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 STAR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 21 RGD objects have been annotated to congenital adrenal hyperplasia  (DOID:0050811)
  • 94 papers in RGD have been used to annotate Star
  • Curation Notes: ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH
  • Original References(s): PMID:10215405 PMID:10323391 PMID:10486704 PMID:10566637 PMID:10700722 PMID:11061515 PMID:11279152 PMID:11509019 PMID:12725533 PMID:12909641 PMID:14764819 PMID:15289763 PMID:15347444 PMID:15546900 PMID:15666846 PMID:15985476 PMID:16103714 PMID:16118340 PMID:16199547 PMID:16968793 PMID:17003020 PMID:17301050 PMID:18729825 PMID:19245813 PMID:19773404 PMID:20444910 PMID:21164258 PMID:21647419 PMID:21691943 PMID:21846663 PMID:21951701 PMID:22028173 PMID:22083155 PMID:22903695 PMID:23211570 PMID:23748066 PMID:23859637 PMID:23920000 PMID:24790358 PMID:24904850 PMID:24953586 PMID:25525159 PMID:25741868 PMID:25883920 PMID:26467025 PMID:26523528 PMID:26650942 PMID:26827627 PMID:27047663 PMID:28467518 PMID:28492532 PMID:28546232 PMID:28637490 PMID:29576868 PMID:30400872 PMID:30476142 PMID:31286101 PMID:31666050 PMID:32252217 PMID:32835366 PMID:33227378 PMID:34243750 PMID:34258490 PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 PMID:9097960 PMID:9141542 PMID:9215316 PMID:9237999 PMID:9279522


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