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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Srd5a2 and Pseudovaginal Perineoscrotal Hypospadias 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 SRD5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Pseudovaginal Perineoscrotal Hypospadias  (DOID:9001561)
  • 39 papers in RGD have been used to annotate Srd5a2


  • An association has been curated linking Srd5a2 and Pseudovaginal Perineoscrotal Hypospadias 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 SRD5A2 (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to Pseudovaginal Perineoscrotal Hypospadias  (DOID:9001561)
  • 39 papers in RGD have been used to annotate Srd5a2
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:7554313


  • An association has been curated linking Srd5a2 and Pseudovaginal Perineoscrotal Hypospadias 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 SRD5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Pseudovaginal Perineoscrotal Hypospadias  (DOID:9001561)
  • 39 papers in RGD have been used to annotate Srd5a2
  • Curation Notes: ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2
  • Original References(s): PMID:10501358 PMID:10564874 PMID:10718838 PMID:10898110 PMID:10999800 PMID:1147889 PMID:11869378 PMID:12576851 PMID:12699446 PMID:12843198 PMID:1406794 PMID:14560315 PMID:14594182 PMID:15064320 PMID:1522235 PMID:15266301 PMID:15528927 PMID:15770495 PMID:16181229 PMID:16199547 PMID:17576681 PMID:17609295 PMID:18097518 PMID:18314109 PMID:18350250 PMID:18384427 PMID:18391525 PMID:18469342 PMID:18717241 PMID:19342739 PMID:1944596 PMID:19492581 PMID:20019388 PMID:20179965 PMID:20190539 PMID:20493473 PMID:20583543 PMID:20736251 PMID:20850730 PMID:21147889 PMID:21402750 PMID:2154055 PMID:21540559 PMID:21631525 PMID:21714467 PMID:22272144 PMID:22362597 PMID:22435390 PMID:22453073 PMID:22876553 PMID:23329752 PMID:23633205 PMID:24412121 PMID:24665940 PMID:24737579 PMID:24885102 PMID:25248670 PMID:25266188 PMID:25605705 PMID:25741868 PMID:25899528 PMID:26446026 PMID:2665940 PMID:26761946 PMID:26980298 PMID:27070133 PMID:27086719 PMID:27854360 PMID:27899157 PMID:28110336 PMID:28492532 PMID:28544750 PMID:28663096 PMID:28938747 PMID:29582157 PMID:29798939 PMID:30132287 PMID:30668521 PMID:30889611 PMID:30968598 PMID:31031332 PMID:31130284 PMID:31186340 PMID:31219235 PMID:31277073 PMID:31885560 PMID:32346305 PMID:32371413 PMID:32380235 PMID:32567554 PMID:32596280 PMID:32713132 PMID:32894851 PMID:33516834 PMID:33742552 PMID:33775494 PMID:35331321 PMID:35386187 PMID:35700942 PMID:36617173 PMID:4028464 PMID:431680 PMID:755047 PMID:7554313 PMID:7608269 PMID:8110760 PMID:8262007 PMID:835597 PMID:8626825 PMID:8706317 PMID:8723114 PMID:8768837 PMID:8784107 PMID:9066886 PMID:9135696 PMID:9208814 PMID:9467575 PMID:9536098 PMID:9745434 PMID:9843052


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