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 CC2D2A and Meckel syndrome 6 in Pan paniscus.        

  • 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 CC2D2A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 6  (DOID:0070120)
  • 0 papers in RGD have been used to annotate CC2D2A


  • An association has been curated linking CC2D2A and Meckel syndrome 6 in Pan paniscus.        

  • 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 CC2D2A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Meckel syndrome 6  (DOID:0070120)
  • 0 papers in RGD have been used to annotate CC2D2A
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 6
  • Original References(s): PMID:16199547 PMID:17576681 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:21370303 PMID:21866095 PMID:22241855 PMID:22246503 PMID:22995991 PMID:23351400 PMID:24360807 PMID:24706459 PMID:25741868 PMID:25741913 PMID:25741914 PMID:26003401 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27081510 PMID:27082236 PMID:27894351 PMID:28125082 PMID:28492532 PMID:28518168 PMID:29039169 PMID:29987673 PMID:30202406 PMID:31130284 PMID:32165824 PMID:32461654 PMID:32488064 PMID:33486889 PMID:34645488 PMID:8253763 PMID:9536098


  • Go Back to source page   Continue to Ontology report