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ONTOLOGY REPORT - ANNOTATIONS


Term:polygenic disease
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Accession:DOID:0080577 term browser browse the term
Definition:A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci. (DO)
For additional species annotation, visit the Alliance of Genome Resources.


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facioscapulohumeral muscular dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emilin2 elastin microfibril interfacer 2 JBrowse link 9 119,594,049 119,653,675 RGD:8554872
G Lpin2 lipin 2 JBrowse link 9 119,517,101 119,591,533 RGD:8554872
G Myom1 myomesin 1 JBrowse link 9 119,353,840 119,469,196 RGD:8554872
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 9 119,675,750 119,818,620 RGD:7240710
RGD:8554872
RGD:11554173
ocular albinism with sensorineural deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:7240710
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:7240710
RGD:8554872
retinitis pigmentosa 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:7240710
RGD:8554872
G Rom1 retinal outer segment membrane protein 1 JBrowse link 1 225,126,732 225,128,740 RGD:7240710
RGD:8554872
Usher syndrome type 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:7240710
RGD:8554872
RGD:8662279
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:7240710
RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:8554872
Usher Syndrome, Type ID/F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8554872

Term paths to the root
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Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          polygenic disease 12
            digenic disease + 12
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.