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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Med12 and Ohdo Syndrome, X-Linked in Heterocephalus glaber.        

  • 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 MED12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Ohdo Syndrome, X-Linked  (DOID:9004628)
  • 0 papers in RGD have been used to annotate Med12


  • An association has been curated linking Med12 and Ohdo Syndrome, X-Linked in Heterocephalus glaber.        

  • 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 MED12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Ohdo Syndrome, X-Linked  (DOID:9004628)
  • 0 papers in RGD have been used to annotate Med12
  • Curation Notes: ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE | ClinVar Annotator: match by term: Ohdo syndrome, X-linked
  • Original References(s): PMID:10405444 PMID:16700052 PMID:17334363 PMID:17369503 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20981778 PMID:23091001 PMID:23395478 PMID:24039113 PMID:24077912 PMID:24715367 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26338144 PMID:26350204 PMID:27500536 PMID:27620904 PMID:28369444 PMID:28492532 PMID:28794916 PMID:30006928 PMID:32174975 PMID:32371413 PMID:32682435 PMID:32715471 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34079076 PMID:34573309 PMID:36271811 PMID:8279489


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