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GENE - TERM ANNOTATION REPORT

24 Annotations Found.

An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • 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 HMBS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Lindberg RL, etal., Nat Genet. 1996 Feb;12(2):195-9.
  • 2 additional annotations were made from Lindberg RL, etal., Nat Genet. 1996 Feb;12(2):195-9.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Puy H, etal., Hum Genet. 1998 Nov;103(5):570-5.
  • The annotation has been inferred from sequence orthology with HMBS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Puy H, etal., Hum Genet. 1998 Nov;103(5):570-5.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Curation Notes: DNA:transition, transversions:intron:IVS1+1G>A, +2T>A, +5C>G (human)


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Lundin G, etal., Hum Genet. 1994 Jan;93(1):59-62. doi: 10.1007/bf00218914.
  • The annotation has been inferred from sequence orthology with HMBS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Lundin G, etal., Hum Genet. 1994 Jan;93(1):59-62. doi: 10.1007/bf00218914.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Curation Notes: DNA:splice-site mutation, missense mutation:intron 9, exon 10: IVS9-1G>A, p.R201W (human)


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Tomie Y, etal., Res Commun Mol Pathol Pharmacol. 1998 Jan;99(1):5-15.
  • The annotation has been inferred from sequence orthology with HMBS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Tomie Y, etal., Res Commun Mol Pathol Pharmacol. 1998 Jan;99(1):5-15.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Qualifier: susceptibility
  • Curation Notes: DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human)


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ulbrichova D, etal., Blood Cells Mol Dis. 2009 Mar-Apr;42(2):167-73. doi: 10.1016/j.bcmd.2008.11.001. Epub 2009 Jan 12.
  • The annotation has been inferred from sequence orthology with HMBS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Ulbrichova D, etal., Blood Cells Mol Dis. 2009 Mar-Apr;42(2):167-73. doi: 10.1016/j.bcmd.2008.11.001. Epub 2009 Jan 12.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Curation Notes: DNA:missense mutation:cds: p.V215M (human)


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Serrano-Mendioroz I, etal., Hum Gene Ther. 2018 Apr;29(4):480-491. doi: 10.1089/hum.2017.056. Epub 2018 Jan 2.
  • The annotation has been inferred from sequence orthology with HMBS (Homo sapiens) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Serrano-Mendioroz I, etal., Hum Gene Ther. 2018 Apr;29(4):480-491. doi: 10.1089/hum.2017.056. Epub 2018 Jan 2.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Qualifier: treatment
  • Curation Notes: human gene in a mouse model


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from de Rooij FW, etal., Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):64-9.
  • The annotation has been inferred from sequence orthology with HMBS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from de Rooij FW, etal., Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):64-9.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Curation Notes: DNA:SNPs, haplotype:multiple


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Tjensvoll K, etal., Dis Markers. 2003-2004;19(1):41-6. doi: 10.1155/2003/384971.
  • The annotation has been inferred from sequence orthology with HMBS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Tjensvoll K, etal., Dis Markers. 2003-2004;19(1):41-6. doi: 10.1155/2003/384971.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Curation Notes: DNA:SNPs, deletion, haplotype:multiple


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Guillén-Navarro E, etal., Ann Hum Genet. 2004 Sep;68(Pt 5):509-14. doi: 10.1046/j.1529-8817.2003.00114.x.
  • The annotation has been inferred from sequence orthology with HMBS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Guillén-Navarro E, etal., Ann Hum Genet. 2004 Sep;68(Pt 5):509-14. doi: 10.1046/j.1529-8817.2003.00114.x.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Curation Notes: DNA:deletion:exon 12:669-698del (p.E223_L232del) (human)


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Loskove Y, etal., Mol Genet Metab. 2019 Nov;128(3):352-357. doi: 10.1016/j.ymgme.2018.10.008. Epub 2018 Oct 26.
  • The annotation has been inferred from sequence orthology with HMBS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 additional annotations were made from Loskove Y, etal., Mol Genet Metab. 2019 Nov;128(3):352-357. doi: 10.1016/j.ymgme.2018.10.008. Epub 2018 Oct 26.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Curation Notes: DNA:mutations:multiple


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Greene-Davis ST, etal., Clin Biochem. 1997 Dec;30(8):607-12. doi: 10.1016/s0009-9120(97)00114-8.
  • The annotation has been inferred from sequence orthology with HMBS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Greene-Davis ST, etal., Clin Biochem. 1997 Dec;30(8):607-12. doi: 10.1016/s0009-9120(97)00114-8.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Curation Notes: DNA:missense mutation:exon 10: p.R173W (173C>T) (human)


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Yang J, etal., Gene. 2015 Jul 10;565(2):288-90. doi: 10.1016/j.gene.2015.04.027. Epub 2015 Apr 11.
  • The annotation has been inferred from sequence orthology with HMBS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Yang J, etal., Gene. 2015 Jul 10;565(2):288-90. doi: 10.1016/j.gene.2015.04.027. Epub 2015 Apr 11.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Curation Notes: DNA:missense mutation:cd: p.A330P (human)


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Yasuda M, etal., Hum Mol Genet. 2019 Jun 1;28(11):1755-1767. doi: 10.1093/hmg/ddz003.
  • 2 additional annotations were made from Yasuda M, etal., Hum Mol Genet. 2019 Jun 1;28(11):1755-1767. doi: 10.1093/hmg/ddz003.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Qualifier: severity
  • Curation Notes: DNA:missense mutation:cds: p.R167Q (c.500G>A) (mouse)


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Dragneva S, etal., JIMD Rep. 2014;16:57-64. doi: 10.1007/8904_2014_320. Epub 2014 Jul 6.
  • The annotation has been inferred from sequence orthology with HMBS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Dragneva S, etal., JIMD Rep. 2014;16:57-64. doi: 10.1007/8904_2014_320. Epub 2014 Jul 6.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Curation Notes: DNA:mutations:multiple


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ulbrichova-Douderova D and Martasek P, Anal Biochem. 2009 Dec 1;395(1):41-8. doi: 10.1016/j.ab.2009.07.050. Epub 2009 Aug 5.
  • The annotation has been inferred from sequence orthology with HMBS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Ulbrichova-Douderova D and Martasek P, Anal Biochem. 2009 Dec 1;395(1):41-8. doi: 10.1016/j.ab.2009.07.050. Epub 2009 Aug 5.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Curation Notes: DNA:mutations:multiple


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Maeda N, etal., Clin Biochem. 1999 Aug;32(6):411-7. doi: 10.1016/s0009-9120(99)00043-0.
  • The annotation has been inferred from sequence orthology with HMBS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Maeda N, etal., Clin Biochem. 1999 Aug;32(6):411-7. doi: 10.1016/s0009-9120(99)00043-0.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Curation Notes: DNA:transversion:intron:IVS11-3C>G (human)


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Whatley SD, etal., Hum Genet. 1999 Jun;104(6):505-10. doi: 10.1007/s004390050995.
  • The annotation has been inferred from sequence orthology with HMBS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Whatley SD, etal., Hum Genet. 1999 Jun;104(6):505-10. doi: 10.1007/s004390050995.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Curation Notes: DNA:mutations:multiple


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Jiang L, etal., Nat Med. 2018 Dec;24(12):1899-1909. doi: 10.1038/s41591-018-0199-z. Epub 2018 Oct 8.
  • The annotation has been inferred from sequence orthology with HMBS (Homo sapiens) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Jiang L, etal., Nat Med. 2018 Dec;24(12):1899-1909. doi: 10.1038/s41591-018-0199-z. Epub 2018 Oct 8.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Qualifier: treatment
  • Curation Notes: human mRNA in a mouse model


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Méndez M, etal., Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):55-63.
  • The annotation has been inferred from sequence orthology with HMBS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Méndez M, etal., Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):55-63.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Curation Notes: DNA:mutations:multiple


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Homedan C, etal., Hum Mol Genet. 2015 Sep 1;24(17):5015-23. doi: 10.1093/hmg/ddv222. Epub 2015 Jun 12.
  • 2 additional annotations were made from Homedan C, etal., Hum Mol Genet. 2015 Sep 1;24(17):5015-23. doi: 10.1093/hmg/ddv222. Epub 2015 Jun 12.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • 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 HMBS (Homo sapiens) [(EXP) inferred from experiment]
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:6132132 PMID:8772850


    • An association has been curated linking Hmbs and acute intermittent porphyria in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Curation Notes: OMIM:176000


    • An association has been curated linking Hmbs and acute intermittent porphyria 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 HMBS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 51 papers in RGD have been used to annotate Hmbs
  • Curation Notes: ClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway | ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: HMBS-related condition | ClinVar Annotator: match by term: Porphyria, Swedish type
  • Original References(s): PMID:10453740 PMID:10494093 PMID:10502788 PMID:10602775 PMID:10782018 PMID:10790212 PMID:10944860 PMID:11013452 PMID:11030413 PMID:11055586 PMID:11399210 PMID:11591889 PMID:11831862 PMID:11857754 PMID:12357456 PMID:12372055 PMID:12566739 PMID:12773194 PMID:1301948 PMID:1427766 PMID:1496994 PMID:15003823 PMID:15469427 PMID:15534187 PMID:15643298 PMID:1577472 PMID:16025832 PMID:16199547 PMID:16211556 PMID:16817012 PMID:1714233 PMID:17298217 PMID:17576681 PMID:18414213 PMID:18627369 PMID:19138865 PMID:19207107 PMID:19267997 PMID:19292878 PMID:19401933 PMID:19460837 PMID:1961762 PMID:19656452 PMID:19656453 PMID:19694018 PMID:2025226 PMID:20301372 PMID:20978940 PMID:2227955 PMID:2243128 PMID:2246851 PMID:2246852 PMID:22748422 PMID:23815679 PMID:24997713 PMID:25016127 PMID:25118551 PMID:25637381 PMID:25741868 PMID:26075277 PMID:26095755 PMID:26582343 PMID:27507172 PMID:27539938 PMID:27558376 PMID:27769855 PMID:27849156 PMID:27884173 PMID:2789372 PMID:28492532 PMID:2864531 PMID:29360981 PMID:30740734 PMID:30766957 PMID:31044425 PMID:31073229 PMID:31153822 PMID:31216405 PMID:32197664 PMID:32581362 PMID:33445488 PMID:34089223 PMID:34426522 PMID:35722412 PMID:6985467 PMID:7635464 PMID:7757070 PMID:7962538 PMID:8081367 PMID:8096492 PMID:8168829 PMID:8262514 PMID:8262523 PMID:8268934 PMID:8270254 PMID:8270256 PMID:8401516 PMID:8565205 PMID:9067752 PMID:9199558 PMID:9225970 PMID:9238757 PMID:9281416 PMID:9350165 PMID:9463797 PMID:9536098 PMID:9654202 PMID:9702975


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