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ONTOLOGY REPORT - ANNOTATIONS


Term:Hereditary nonpolyposis colorectal carcinoma
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Accession:HP:0006716 term browser browse the term
Synonyms:xref: UMLS:C4024989


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Hereditary nonpolyposis colorectal carcinoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKT1 AKT serine/threonine kinase 1 JBrowse link 14 104,769,349 104,795,748 RGD:8699517
G APC APC regulator of WNT signaling pathway JBrowse link 5 112,707,498 112,846,239 RGD:8699517
G AXIN2 axin 2 JBrowse link 17 65,528,563 65,561,648 RGD:8699517
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase JBrowse link 2 110,637,528 110,678,107 RGD:8699517
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B JBrowse link 15 40,161,069 40,221,123 RGD:8699517
G CTNNB1 catenin beta 1 JBrowse link 3 41,199,422 41,240,445 RGD:8699517
G DCC DCC netrin 1 receptor JBrowse link 18 52,340,172 53,535,899 RGD:8699517
G DLC1 DLC1 Rho GTPase activating protein JBrowse link 8 13,083,361 13,604,620 RGD:8699517
G EP300 E1A binding protein p300 JBrowse link 22 41,092,592 41,180,077 RGD:8699517
G EPCAM epithelial cell adhesion molecule JBrowse link 2 47,369,311 47,387,020 RGD:8699517
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,793,293 1,808,872 RGD:8699517
G FLCN folliculin JBrowse link 17 17,206,946 17,237,188 RGD:8699517
G MLH3 mutL homolog 3 JBrowse link 14 75,013,764 75,051,532 RGD:8699517
G MSH6 mutS homolog 6 JBrowse link 2 47,783,082 47,806,954 RGD:8699517
G NRAS NRAS proto-oncogene, GTPase JBrowse link 1 114,704,469 114,716,771 RGD:8699517
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha JBrowse link 3 179,148,114 179,240,093 RGD:8699517
G PMS2 PMS1 homolog 2, mismatch repair system component JBrowse link 7 5,970,925 6,009,106 RGD:8699517
G SRC SRC proto-oncogene, non-receptor tyrosine kinase JBrowse link 20 37,344,685 37,405,432 RGD:8699517
G TGFBR2 transforming growth factor beta receptor 2 JBrowse link 3 30,606,472 30,694,142 RGD:8699517
G TP53 tumor protein p53 JBrowse link 17 7,668,402 7,687,550 RGD:8699517

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 5964
    Phenotypic abnormality 5960
      Abnormality of the digestive system 2313
        Abnormality of the gastrointestinal tract 1313
          Neoplasm of the gastrointestinal tract 225
            Neoplasm of the large intestine 67
              Hereditary nonpolyposis colorectal carcinoma 20
Path 2
Term Annotations click to browse term
  Human phenotype 5964
    Phenotypic abnormality 5960
      Abnormality of the digestive system 2313
        Abnormality of the gastrointestinal tract 1313
          Morphological abnormality of the gastrointestinal tract 984
            Abnormal intestine morphology 632
              Abnormal large intestine morphology 184
                Neoplasm of the large intestine 67
                  Hereditary nonpolyposis colorectal carcinoma 20
paths to the root

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