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

ONTOLOGY REPORT - ANNOTATIONS


Term:Cowden syndrome
go back to main search page
Accession:DOID:6457 term browser browse the term
Definition:An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes.
Synonyms:exact_synonym: CD;   CWS1;   Cerebellum Dysplastic Gangliocytoma;   Cerebellum Dysplastic Gangliocytomas;   Cowden disease;   Cowden syndrome 1;   Cowden's disease;   Cowden's syndrome;   Cowdens disease;   Cowdens syndrome;   LDD;   Lhermitte-Duclos disease;   dysplastic gangliocytoma of cerebellum;   dysplastic gangliocytoma of the cerebellum
 related_synonym: Cowden disease 3
 primary_id: OMIM:158350
 alt_id: RDO:9003062
 xref: GARD:6202;   NCI:C3076;   OMIM:PS158350;   ORDO:201
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Cowden syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efcab10 EF-hand calcium binding domain 10 JBrowse link 6 52,702,304 52,709,223 RGD:8554872
G Egfr epidermal growth factor receptor JBrowse link 14 99,919,485 100,104,136 RGD:8554872
G Klln killin, p53-regulated DNA replication inhibitor JBrowse link 1 251,417,849 251,420,794 RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
RGD:7240710
G Rint1 RAD50 interactor 1 JBrowse link 4 7,851,602 7,885,446 RGD:8554872
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
G Sdhd succinate dehydrogenase complex subunit D JBrowse link 8 55,028,125 55,037,604 RGD:8554872
Cowden Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klln killin, p53-regulated DNA replication inhibitor JBrowse link 1 251,417,849 251,420,794 RGD:7240710
Cowden Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:7240710
RGD:8554872
Cowden Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:8554872
RGD:7240710
Cowden Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sec23b Sec23 homolog B, coat complex II component JBrowse link 3 138,715,118 138,757,111 RGD:8554872
RGD:7240710
Cowden-Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Multiple Hamartoma Syndrome 24
        Cowden syndrome 10
          Cowden Syndrome 4 1
          Cowden Syndrome 5 1
          Cowden Syndrome 6 1
          Cowden Syndrome 7 1
          Cowden-Like Syndrome 3
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                Cowden syndrome 10
                  Cowden Syndrome 4 1
                  Cowden Syndrome 5 1
                  Cowden Syndrome 6 1
                  Cowden Syndrome 7 1
                  Cowden-Like Syndrome 3
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.