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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Hsd17b4 and D-bifunctional protein deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Suzuki Y, etal., Am J Hum Genet. 1997 Nov;61(5):1153-62.
  • The annotation has been inferred from sequence orthology with HSD17B4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Suzuki Y, etal., Am J Hum Genet. 1997 Nov;61(5):1153-62.
  • 4 RGD objects have been annotated to D-bifunctional protein deficiency  (DOID:0090031)
  • 28 papers in RGD have been used to annotate Hsd17b4


    • An association has been curated linking Hsd17b4 and D-bifunctional protein deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ferdinandusse S, etal., Am J Hum Genet. 2006 Jan;78(1):112-24. Epub 2005 Nov 15.
  • The annotation has been inferred from sequence orthology with HSD17B4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Ferdinandusse S, etal., Am J Hum Genet. 2006 Jan;78(1):112-24. Epub 2005 Nov 15.
  • 4 RGD objects have been annotated to D-bifunctional protein deficiency  (DOID:0090031)
  • 28 papers in RGD have been used to annotate Hsd17b4
  • Qualifier: severity
  • Curation Notes: DNA:mutations:multiple (human)


    • An association has been curated linking Hsd17b4 and D-bifunctional protein deficiency 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 HSD17B4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to D-bifunctional protein deficiency  (DOID:0090031)
  • 28 papers in RGD have been used to annotate Hsd17b4


    • An association has been curated linking Hsd17b4 and D-bifunctional protein deficiency 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 Hsd17b4 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to D-bifunctional protein deficiency  (DOID:0090031)
  • 28 papers in RGD have been used to annotate Hsd17b4
  • Curation Notes: OMIM:261515


    • An association has been curated linking Hsd17b4 and D-bifunctional protein deficiency 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 HSD17B4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to D-bifunctional protein deficiency  (DOID:0090031)
  • 28 papers in RGD have been used to annotate Hsd17b4
  • Curation Notes: ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency | ClinVar Annotator: match by term: PBFE DEFICIENCY
  • Original References(s): PMID:10400999 PMID:10419023 PMID:10497229 PMID:10671535 PMID:10748062 PMID:11330053 PMID:11743515 PMID:11810648 PMID:11992265 PMID:12562856 PMID:16199547 PMID:16385454 PMID:17576681 PMID:20673864 PMID:20681997 PMID:22507161 PMID:22864515 PMID:23100014 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:24602372 PMID:25741868 PMID:25882080 PMID:25954003 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27124789 PMID:27243974 PMID:27290639 PMID:27528516 PMID:27618451 PMID:27790638 PMID:28017249 PMID:28490743 PMID:28492532 PMID:28649525 PMID:2868085 PMID:28708278 PMID:2882519 PMID:28830375 PMID:28973083 PMID:2921319 PMID:30396834 PMID:30561787 PMID:31230720 PMID:31455392 PMID:32042923 PMID:32904102 PMID:33510602 PMID:33539324 PMID:34440436 PMID:34534157 PMID:34623748 PMID:34645488 PMID:34660840 PMID:34719423 PMID:34732400 PMID:34906502 PMID:36939041 PMID:8279468 PMID:9345094 PMID:9482850 PMID:9536098 PMID:9915948


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