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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Lynch syndrome 1
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Accession:DOID:0070271 term browser browse the term
Definition:A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16. (DO)
Synonyms:exact_synonym: COCA 1;   Colon cancer, familial nonpolyposis, type 1;   FCC1;   HNPCC1;   hereditary non-polyposis colon cancer type 1;   hereditary nonpolyposis colorectal cancer, type 1
 related_synonym: Lynch cancer family syndrome I;   Lynch syndrome I;   Lynch syndrome I (site-specific colonic cancer);   Lynch syndrome II
 primary_id: MESH:C535972;   MESH:C537261
 alt_id: OMIM:120435


show annotations for term's descendants           Sort by:
Lynch syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 PMID:36647049 NCBI chr12:10,701,194...10,710,772
Ensembl chr12:10,701,194...10,710,769 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Ccz1 CCZ1 homolog, vacuolar protein trafficking and biogenesis associated ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 PMID:36647049 NCBI chr12:10,601,066...10,624,608
Ensembl chr12:10,601,056...10,624,608 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 PMID:36647049 NCBI chr12:10,710,771...10,744,597
Ensembl chr12:10,705,874...10,744,573 		JBrowse link
G Epcam epithelial cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I		 CTD
ClinVar		 PMID:19098912 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:6,880,142...6,896,103
Ensembl chr 6:6,878,237...6,896,127 		JBrowse link
G Kcnk12 potassium two pore domain channel subfamily K member 12 ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar NCBI chr 6:6,740,147...6,790,664
Ensembl chr 6:6,739,991...6,790,661 		JBrowse link
G Lrrfip2 LRR binding FLII interacting protein 2 ISO ClinVar Annotator: match by term: Lynch syndrome II ClinVar PMID:21785361 NCBI chr 8:111,091,453...111,193,947
Ensembl chr 8:111,091,503...111,193,255 		JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II ClinVar PMID:661956 PMID:1749856 PMID:1756143 PMID:4063166 PMID:7557107 More... NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617 		JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:104,881,483...104,917,686
Ensembl chr 6:104,881,483...104,917,728 		JBrowse link
G Msh2 mutS homolog 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I
ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II
ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II		 OMIM
CTD
ClinVar		 PMID:187139 PMID:261128 PMID:273149 PMID:580563 PMID:625353 More... NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I
ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I		 ClinVar PMID:551112 PMID:580251 PMID:1548301 PMID:2059188 PMID:3049887 More... NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:11818965 PMID:12606733 PMID:12917422 PMID:15931596 PMID:15987719 More... NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146 		JBrowse link
G Ocm oncomodulin ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 PMID:36647049 NCBI chr12:10,535,619...10,596,705
Ensembl chr12:10,586,897...10,596,707 		JBrowse link
G Pms1 PMS1 homolog 1, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lynch syndrome 1		 CTD
ClinVar		 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 9:48,229,403...48,340,237
Ensembl chr 9:48,253,410...48,340,237 		JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Lynch syndrome 1
ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I		 ClinVar PMID:2648339 PMID:7628019 PMID:7632227 PMID:7661930 PMID:7704024 More... NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066 		JBrowse link
G Rad51d RAD51 paralog D ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:21822267 PMID:25741868 PMID:26261251 PMID:26467025 PMID:28492532 More... NCBI chr10:67,805,720...67,824,452
Ensembl chr10:67,740,712...67,824,434 		JBrowse link
G Rsph10b radial spoke head 10 homolog B ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 PMID:36647049 NCBI chr12:10,627,434...10,675,227
Ensembl chr12:10,627,435...10,675,167 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      Hereditary Neoplastic Syndromes 1284
        Lynch syndrome 105
          Lynch syndrome 1 18
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                Lynch syndrome 105
                  Lynch syndrome 1 18
paths to the root