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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking Ar and androgen insensitivity syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ris-Stalpers C, etal., Pediatr Res. 1994 Aug;36(2):227-34.
  • The annotation has been inferred from sequence orthology with AR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Ris-Stalpers C, etal., Pediatr Res. 1994 Aug;36(2):227-34.
  • 5 RGD objects have been annotated to androgen insensitivity syndrome  (DOID:4674)
  • 100 papers in RGD have been used to annotate Ar
  • Curation Notes: DNA:point mutation, repeats:exon


    • An association has been curated linking Ar and androgen insensitivity syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Brown TR, etal., Proc Natl Acad Sci U S A. 1988 Nov;85(21):8151-5.
  • The annotation has been inferred from sequence orthology with AR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Brown TR, etal., Proc Natl Acad Sci U S A. 1988 Nov;85(21):8151-5.
  • 5 RGD objects have been annotated to androgen insensitivity syndrome  (DOID:4674)
  • 100 papers in RGD have been used to annotate Ar
  • Curation Notes: DNA:deletion


    • An association has been curated linking Ar and androgen insensitivity syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Jakubiczka S, etal., Hum Genet. 1992 Nov;90(3):311-2.
  • The annotation has been inferred from sequence orthology with AR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Jakubiczka S, etal., Hum Genet. 1992 Nov;90(3):311-2.
  • 5 RGD objects have been annotated to androgen insensitivity syndrome  (DOID:4674)
  • 100 papers in RGD have been used to annotate Ar
  • Curation Notes: DNA:missense mutation:exon:p.M749V (human)


    • An association has been curated linking Ar and androgen insensitivity syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with AR (Homo sapiens) [(EXP) inferred from experiment]
  • 5 RGD objects have been annotated to androgen insensitivity syndrome  (DOID:4674)
  • 100 papers in RGD have been used to annotate Ar
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:1303262 PMID:8281139


    • An association has been curated linking Ar and androgen insensitivity syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Sharma V, etal., Fertil Steril. 2011 Feb;95(2):804.e19-21. doi: 10.1016/j.fertnstert.2010.08.015.
  • The annotation has been inferred from sequence orthology with AR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Sharma V, etal., Fertil Steril. 2011 Feb;95(2):804.e19-21. doi: 10.1016/j.fertnstert.2010.08.015.
  • 5 RGD objects have been annotated to androgen insensitivity syndrome  (DOID:4674)
  • 100 papers in RGD have been used to annotate Ar
  • Curation Notes: DNA:missense mutation:exon:p.R615S (human)


    • An association has been curated linking Ar and androgen insensitivity syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Saunders PT, etal., Clin Endocrinol (Oxf). 1992 Sep;37(3):214-20.
  • The annotation has been inferred from sequence orthology with AR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Saunders PT, etal., Clin Endocrinol (Oxf). 1992 Sep;37(3):214-20.
  • 5 RGD objects have been annotated to androgen insensitivity syndrome  (DOID:4674)
  • 100 papers in RGD have been used to annotate Ar
  • Curation Notes: DNA:missense mutations, repeats:exon:p.V866L, p.R607Y (human)


    • An association has been curated linking Ar and androgen insensitivity syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Hiort O, etal., J Clin Endocrinol Metab. 1993 Jul;77(1):262-6.
  • The annotation has been inferred from sequence orthology with AR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Hiort O, etal., J Clin Endocrinol Metab. 1993 Jul;77(1):262-6.
  • 5 RGD objects have been annotated to androgen insensitivity syndrome  (DOID:4674)
  • 100 papers in RGD have been used to annotate Ar


    • An association has been curated linking Ar and androgen insensitivity syndrome in Rattus norvegicus.        

  • The association was inferred from expression pattern (IEP)
    		•  
  • The annotation was made from Freeman LM, etal., J Neurobiol. 1995 May;27(1):51-9.
  • 2 additional annotations were made from Freeman LM, etal., J Neurobiol. 1995 May;27(1):51-9.
  • 5 RGD objects have been annotated to androgen insensitivity syndrome  (DOID:4674)
  • 100 papers in RGD have been used to annotate Ar
  • Curation Notes: protein:altered localization:spinal cord, motor neuron, cytoplasm


    • An association has been curated linking Ar and androgen insensitivity syndrome in Rattus norvegicus.        

  • 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 AR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to androgen insensitivity syndrome  (DOID:4674)
  • 100 papers in RGD have been used to annotate Ar


    • An association has been curated linking Ar and androgen insensitivity syndrome 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 AR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to androgen insensitivity syndrome  (DOID:4674)
  • 100 papers in RGD have been used to annotate Ar
  • Curation Notes: ClinVar Annotator: match by term: Androgen resistance syndrome | ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency
  • Original References(s): PMID:10022458 PMID:10092153 PMID:10221692 PMID:10221770 PMID:10323251 PMID:10323385 PMID:10359561 PMID:10425033 PMID:10458483 PMID:10502786 PMID:10571951 PMID:10589774 PMID:10690872 PMID:10834333 PMID:10840043 PMID:10852459 PMID:10946887 PMID:11103816 PMID:11181525 PMID:11225909 PMID:11260228 PMID:11376111 PMID:11397856 PMID:11549642 PMID:11579211 PMID:1158706 PMID:11744994 PMID:11788616 PMID:11788645 PMID:11788673 PMID:11889162 PMID:12068007 PMID:12213902 PMID:12466388 PMID:12644579 PMID:12705360 PMID:12843171 PMID:1303262 PMID:1307250 PMID:13680382 PMID:1430233 PMID:1458719 PMID:14701682 PMID:1480178 PMID:1487249 PMID:14974091 PMID:1508223 PMID:15109605 PMID:15266301 PMID:15531547 PMID:15541764 PMID:1569163 PMID:15925895 PMID:15963062 PMID:1598912 PMID:16083860 PMID:1609793 PMID:16199547 PMID:16283146 PMID:1631125 PMID:16365032 PMID:16373394 PMID:16450583 PMID:16470553 PMID:16804045 PMID:17161333 PMID:1720929 PMID:17382127 PMID:1750490 PMID:1752359 PMID:17576681 PMID:1775137 PMID:1779964 PMID:17937062 PMID:17970778 PMID:18406699 PMID:18710728 PMID:19463997 PMID:20007693 PMID:20011049 PMID:20056211 PMID:20150575 PMID:20305676 PMID:20493947 PMID:20671138 PMID:2082179 PMID:21520333 PMID:21645389 PMID:21710452 PMID:21962961 PMID:22334387 PMID:22403669 PMID:22412043 PMID:2293020 PMID:22995991 PMID:23106833 PMID:2332504 PMID:2339702 PMID:23637914 PMID:23774508 PMID:23779130 PMID:24033266 PMID:24186138 PMID:24321103 PMID:24367986 PMID:24737579 PMID:24790346 PMID:25241384 PMID:25248670 PMID:25299611 PMID:25326637 PMID:25433660 PMID:25500996 PMID:25613104 PMID:25640679 PMID:25674389 PMID:25740850 PMID:25741868 PMID:25741909 PMID:2594783 PMID:26303084 PMID:26688387 PMID:26778393 PMID:26806084 PMID:26813233 PMID:26980296 PMID:27051040 PMID:27267075 PMID:27284311 PMID:27403927 PMID:27583472 PMID:27849622 PMID:27854360 PMID:27899157 PMID:27989800 PMID:28186600 PMID:28261839 PMID:28456808 PMID:28492532 PMID:28611373 PMID:28624954 PMID:28659371 PMID:28743543 PMID:28857053 PMID:28879700 PMID:28947719 PMID:29051026 PMID:29237170 PMID:29758562 PMID:29785970 PMID:30064134 PMID:30113450 PMID:30165367 PMID:30316867 PMID:30401990 PMID:30599484 PMID:30668521 PMID:30815925 PMID:31012339 PMID:31180159 PMID:31219235 PMID:31373714 PMID:31429517 PMID:31499074 PMID:3174628 PMID:3186717 PMID:31871297 PMID:3216866 PMID:32229106 PMID:32345305 PMID:32985417 PMID:33505695 PMID:33514065 PMID:33548461 PMID:33728612 PMID:33750429 PMID:33819955 PMID:33863387 PMID:34152287 PMID:34276780 PMID:34333495 PMID:34689141 PMID:35561789 PMID:36572623 PMID:4061484 PMID:7537149 PMID:7581399 PMID:7626493 PMID:7633398 PMID:7641413 PMID:7671849 PMID:7723794 PMID:7795646 PMID:7910529 PMID:7970939 PMID:7981687 PMID:7981689 PMID:8033918 PMID:8040309 PMID:8096390 PMID:8097257 PMID:8126121 PMID:8162033 PMID:8224266 PMID:8325932 PMID:8413310 PMID:8450040 PMID:8450042 PMID:8530589 PMID:8626869 PMID:8628719 PMID:8647313 PMID:8723113 PMID:8809734 PMID:8823308 PMID:8824883 PMID:8990010 PMID:9007482 PMID:9039340 PMID:9196614 PMID:9302173 PMID:9328206 PMID:9332480 PMID:9360511 PMID:9463997 PMID:9536098 PMID:9543136 PMID:9544375 PMID:9554754 PMID:9576916 PMID:9627582 PMID:9698822 PMID:9768671 PMID:9788719 PMID:9851768 PMID:9856504 PMID:9921903


    • An association has been curated linking Ar and androgen insensitivity syndrome 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 Ar (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to androgen insensitivity syndrome  (DOID:4674)
  • 100 papers in RGD have been used to annotate Ar
  • Curation Notes: OMIM:300068


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