Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Gja1 and oculodentodigital dysplasia in Chinchilla lanigera.        

  • 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 GJA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to oculodentodigital dysplasia  (DOID:0060291)
  • 2 papers in RGD have been used to annotate Gja1


  • An association has been curated linking Gja1 and oculodentodigital dysplasia in Chinchilla lanigera.        

  • 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 GJA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to oculodentodigital dysplasia  (DOID:0060291)
  • 2 papers in RGD have been used to annotate Gja1
  • Curation Notes: ClinVar Annotator: match by term: Oculodentodigital dysplasia
  • Original References(s): PMID:10331943 PMID:1057461 PMID:11470490 PMID:12457340 PMID:14729836 PMID:15108203 PMID:15192806 PMID:15551259 PMID:15637728 PMID:15879313 PMID:16709485 PMID:17256797 PMID:17901047 PMID:18003637 PMID:18079109 PMID:18946008 PMID:19057520 PMID:19338053 PMID:19638688 PMID:21215473 PMID:21670345 PMID:22090377 PMID:220941 PMID:22179534 PMID:2309863 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23550541 PMID:24115525 PMID:25327171 PMID:25388818 PMID:25741868 PMID:25741914 PMID:27226478 PMID:28492532 PMID:30628995 PMID:32318302 PMID:33080786 PMID:34630166 PMID:35023121 PMID:4209752 PMID:7815444


  • Go Back to source page   Continue to Ontology report