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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
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Accession:DOID:3883 term browser browse the term
Definition:A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. (DO)
Synonyms:exact_synonym: APC-mutation negative familial colorectal cancer;   Colorectal Cancer, Non-Polyposis;   HNPCC - hereditary nonpolyposis colon cancer;   Hereditary non-polyposis colon cancer;   Hereditary non-polyposis colon cancer syndrome;   Hereditary non-polyposis colorectal cancer;   Hereditary non-polyposis colorectal cancer syndrome;   Hereditary nonpolyposis colon cancer syndrome;   Hereditary nonpolyposis colorectal cancer syndrome;   familial nonpolyposis colon cancer;   hereditary defective mismatch repair syndrome;   hereditary nonpolyposis colon cancer;   hereditary nonpolyposis colorectal cancer;   hereditary nonpolyposis colorectal carcinoma;   hereditary nonpolyposis colorectal neoplasm;   hereditary nonpolyposis colorectal neoplasms
 primary_id: MESH:D003123
 xref: EFO:0007354;   EFO:0009911;   GARD:9905;   MONDO:0005835;   NCI:C120083;   NCI:C8494;   OMIM:PS120435;   ORDO:144
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Lynch syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912 		JBrowse link
G Acvr2a activin A receptor type 2A ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 3:33,204,961...33,292,673
Ensembl chr 3:33,205,523...33,289,968 		JBrowse link
G Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:18602922 PMID:18809606 PMID:20205264 PMID:21376568 PMID:24068316 More... NCBI chr12:10,701,194...10,710,772
Ensembl chr12:10,701,194...10,710,769 		JBrowse link
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:7661930 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Arhgef33 Rho guanine nucleotide exchange factor 33 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:14,582,922...14,715,014
Ensembl chr 6:14,551,495...14,725,292 		JBrowse link
G Aste1 asteroid homolog 1 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 8:106,026,570...106,044,694
Ensembl chr 8:106,026,515...106,044,430 		JBrowse link
G Atl2 atlastin GTPase 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:15,139,071...15,180,421
Ensembl chr 6:15,139,044...15,180,421 		JBrowse link
G Atp6v1e2 ATPase H+ transporting V1 subunit E2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:7,667,359...7,673,711
Ensembl chr 6:7,667,564...7,672,626 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Calm2 calmodulin 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:7,091,624...7,104,284
Ensembl chr 6:7,091,567...7,104,287
Ensembl chr15:7,091,567...7,104,287 		JBrowse link
G Camkmt calmodulin-lysine N-methyltransferase ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242 		JBrowse link
G Car12 carbonic anhydrase 12 ISO protein:decreased expression:colorectum RGD PMID:17855694 RGD:155226867 NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440 		JBrowse link
G Car2 carbonic anhydrase 2 ISO protein:decreased expression:colorectum RGD PMID:17855694 RGD:155226867 NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818 		JBrowse link
G Car9 carbonic anhydrase 9 ISO protein:increased expression:colorectum RGD PMID:17855694 RGD:155226867 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Ccz1 CCZ1 homolog, vacuolar protein trafficking and biogenesis associated ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:10037723 PMID:16338176 PMID:20533529 PMID:21618646 PMID:24440087 More... NCBI chr12:10,601,066...10,624,608
Ensembl chr12:10,601,056...10,624,608 		JBrowse link
G Cd44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28255344 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620 		JBrowse link
G Cdkl4 cyclin-dependent kinase-like 4 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:14,449,822...14,492,568
Ensembl chr 6:14,450,681...14,492,046 		JBrowse link
G Cox7a2l cytochrome c oxidase subunit 7A2 like ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:11,184,064...11,198,287
Ensembl chr 6:11,184,285...11,198,273 		JBrowse link
G Cript CXXC repeat containing interactor of PDZ3 domain ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:7,581,428...7,589,384
Ensembl chr 6:7,580,703...7,589,399 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 ISO ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer ClinVar PMID:28306719 NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979 		JBrowse link
G Dhx57 DExH-box helicase 57 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:14,725,305...14,776,321
Ensembl chr 6:14,725,303...14,776,321 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336 		JBrowse link
G E2f4 E2F transcription factor 4 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr19:33,174,396...33,181,806
Ensembl chr19:33,174,410...33,181,806 		JBrowse link
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr12:10,710,771...10,744,597
Ensembl chr12:10,705,874...10,744,573 		JBrowse link
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:25741868 NCBI chr 6:104,866,926...104,873,351
Ensembl chr 6:104,866,753...104,873,353 		JBrowse link
G Eml4 EMAP like 4 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:11,219,545...11,334,824
Ensembl chr 6:11,219,566...11,334,879 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G Epcam epithelial cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome		 CTD
ClinVar		 PMID:9536098 PMID:9843200 PMID:11830542 PMID:11857745 PMID:12373605 More... NCBI chr 6:6,880,142...6,896,103
Ensembl chr 6:6,878,237...6,896,127 		JBrowse link
G Epm2aip1 EPM2A interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:14635101 PMID:15713769 PMID:15942939 PMID:15949572 PMID:16143124 More... NCBI chr 8:111,233,871...111,241,219
Ensembl chr 8:111,233,826...111,241,871 		JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23409019 PMID:23932590 More... NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028 		JBrowse link
G Fbxo11 F-box protein 11 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:18269114 PMID:19250818 PMID:24323032 PMID:24362816 PMID:24689082 More... NCBI chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662 		JBrowse link
G Galm galactose mutarotase ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
G Gemin6 gem (nuclear organelle) associated protein 6 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:14,786,090...14,790,617
Ensembl chr 6:14,786,070...14,790,612 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion, haplotype: : (human) RGD PMID:9834266 RGD:12792228 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion, haplotype:: (human) RGD PMID:9834266 RGD:12792228 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:10,845,235...10,864,863
Ensembl chr 6:10,845,771...10,864,877 		JBrowse link
G Hnrnpll heterogeneous nuclear ribonucleoprotein L-like ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:14,969,953...15,000,574
Ensembl chr 6:14,970,057...14,999,745 		JBrowse link
G Kcng3 potassium voltage-gated channel modifier subfamily G member 3 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:11,051,311...11,099,264
Ensembl chr 6:11,051,134...11,099,264 		JBrowse link
G Kcnk12 potassium two pore domain channel subfamily K member 12 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:18269114 PMID:24323032 PMID:24362816 PMID:28135145 PMID:28492532 NCBI chr 6:6,740,147...6,790,664
Ensembl chr 6:6,739,991...6,790,661 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:9,859,816...9,942,294
Ensembl chr 6:9,859,867...9,942,293 		JBrowse link
G Lrrfip2 LRR binding FLII interacting protein 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:10422993 PMID:28492532 NCBI chr 8:111,091,453...111,193,947
Ensembl chr 8:111,091,503...111,193,255 		JBrowse link
G Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:14,276,623...14,446,321
Ensembl chr 6:14,277,121...14,446,334 		JBrowse link
G Marcks myristoylated alanine rich protein kinase C substrate ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr20:40,685,315...40,691,012
Ensembl chr20:40,685,315...40,691,012 		JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841 		JBrowse link
G Mlh1 mutL homolog 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
DNA:mutations:cds: (human)
ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome		 CTD
ClinVar
MouseDO
RGD		 PMID:212891 PMID:1061282 PMID:1749856 PMID:1756143 PMID:1856120 More... RGD:153297765 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 DNA:point mutations:exon:Q24E, N499S, E624Q, E1451K
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome		 CTD
ClinVar
RGD		 PMID:11586295 PMID:12702580 PMID:12800209 PMID:18521850 PMID:19156873 More... RGD:1600415 NCBI chr 6:104,881,483...104,917,686
Ensembl chr 6:104,881,483...104,917,728 		JBrowse link
G Morn2 MORN repeat containing 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:14,718,799...14,725,281 JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279 		JBrowse link
G Msh2 mutS homolog 2 onset ISO
ISS		 CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.M688R (c.2063T>G) (human)
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
DNA:mutations:cds: (human)
ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome		 CTD
ClinVar
MouseDO
RGD		 PMID:187139 PMID:261128 PMID:273149 PMID:439855 PMID:580563 More... RGD:126790559, RGD:11063948, RGD:153297765 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
DNA:mutations:cds: (human)
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome		 CTD
ClinVar
RGD		 PMID:183784 PMID:183865 PMID:216699 PMID:277857 PMID:503524 More... RGD:153297765 NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Mta3 metastasis associated 1 family, member 3 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:10,867,028...10,987,221
Ensembl chr 6:10,867,011...10,986,883 		JBrowse link
G Nr0b2 nuclear receptor subfamily 0, group B, member 2 ISO ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:11136233 PMID:20233523 PMID:25741868 PMID:28492532 PMID:33094510 NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609 		JBrowse link
G Nudc nuclear distribution C, dynein complex regulator ISO ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer ClinVar PMID:11136233 PMID:20233523 PMID:25741868 PMID:28492532 PMID:33094510 NCBI chr 5:145,758,006...145,771,390
Ensembl chr 5:145,758,002...145,771,425 		JBrowse link
G Ocm oncomodulin ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:10037723 PMID:16338176 PMID:20533529 PMID:21618646 PMID:24440087 More... NCBI chr12:10,535,619...10,596,705
Ensembl chr12:10,586,897...10,596,707 		JBrowse link
G Ormdl1 ORMDL sphingolipid biosynthesis regulator 1 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chr 9:48,243,365...48,253,316
Ensembl chr 9:48,237,572...48,253,211 		JBrowse link
G Pigf phosphatidylinositol glycan anchor biosynthesis, class F ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:7,589,584...7,617,719
Ensembl chr 6:7,589,570...7,639,675 		JBrowse link
G Pkdcc protein kinase domain containing, cytoplasmic ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:11,455,686...11,465,002
Ensembl chr 6:11,455,686...11,465,556 		JBrowse link
G Plekhh2 pleckstrin homology, MyTH4 and FERM domain containing H2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:10,032,837...10,132,081
Ensembl chr 6:10,032,660...10,140,794 		JBrowse link
G Pms1 PMS1 homolog 1, mismatch repair system component ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Lynch syndrome ClinVar
RGD		 PMID:25741868 PMID:8072530 RGD:1599137 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
DNA:mutations:cds: (human)
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome		 CTD
ClinVar
RGD		 PMID:187425 PMID:216319 PMID:285143 PMID:572224 PMID:663563 More... RGD:1599142, RGD:1599137, RGD:153297765 NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066 		JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:9,646,695...9,707,471
Ensembl chr 6:9,655,765...9,707,974 		JBrowse link
G Prepl prolyl endopeptidase-like ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772 		JBrowse link
G Prkce protein kinase C, epsilon ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:7,965,048...8,451,966
Ensembl chr 6:7,965,048...8,451,719 		JBrowse link
G Rhoq ras homolog family member Q ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:7,613,632...7,652,047 JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:15,372,569...15,443,000
Ensembl chr 6:15,375,496...15,441,480 		JBrowse link
G Rnasel ribonuclease L onset ISO RGD PMID:16054567 RGD:2292000 NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704 		JBrowse link
G Rnaset2 ribonuclease T2 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 1:52,576,344...52,603,151
Ensembl chr 1:52,585,929...52,603,147 		JBrowse link
G Rps20 ribosomal protein S20 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:16,819,095...16,820,476
Ensembl chr 5:16,819,304...16,820,475
Ensembl chr 9:16,819,304...16,820,475
Ensembl chr 3:16,819,304...16,820,475 		JBrowse link
G Rsph10b radial spoke head 10 homolog B ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:10037723 PMID:16338176 PMID:20533529 PMID:21618646 PMID:24440087 More... NCBI chr12:10,627,434...10,675,227
Ensembl chr12:10,627,435...10,675,167 		JBrowse link
G Six2 SIX homeobox 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193 		JBrowse link
G Six3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:9,039,017...9,043,336
Ensembl chr 6:9,036,434...9,053,301 		JBrowse link
G Slc22a25 solute carrier family 22, member 25 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 1:205,338,698...205,498,486
Ensembl chr 1:205,338,699...205,433,085 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907 		JBrowse link
G Slc8a1 solute carrier family 8 member A1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628 		JBrowse link
G Smad2 SMAD family member 2 ISO RGD PMID:10819637 RGD:1599900 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323 		JBrowse link
G Smad3 SMAD family member 3 ISO RGD PMID:10819637 RGD:1599900 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Smad4 SMAD family member 4 ISO RGD PMID:10819637 RGD:1599900 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Socs5 suppressor of cytokine signaling 5 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:7,481,039...7,512,644
Ensembl chr 6:7,481,095...7,514,834 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
G Srbd1 S1 RNA binding domain 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:8,473,591...8,664,544
Ensembl chr 6:8,475,542...8,664,544 		JBrowse link
G Srsf7 serine and arginine rich splicing factor 7 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:14,811,775...14,818,968
Ensembl chr 6:14,811,808...14,818,965 		JBrowse link
G Stpg4 sperm-tail PG-rich repeat containing 4 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:28492532 PMID:30374176 NCBI chr 6:7,108,827...7,158,519
Ensembl chr 6:7,108,869...7,151,390 		JBrowse link
G Taf1b TATA-box binding protein associated factor, RNA polymerase I subunit B ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 6:41,116,980...41,194,593
Ensembl chr 6:41,117,420...41,194,593 		JBrowse link
G Tcf4 transcription factor 4 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO RGD PMID:17613544 RGD:2306282 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lynch syndrome
DNA:mutations:cds: (human)		 CTD
ClinVar
RGD		 PMID:9590282 PMID:25741868 PMID:28492532 PMID:28659821 PMID:28218421 RGD:153297765 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
G Thada THADA, armadillo repeat containing ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:10,183,942...10,488,007
Ensembl chr 6:10,183,982...10,487,159 		JBrowse link
G Thumpd2 THUMP domain containing 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:13,924,742...13,976,657
Ensembl chr 6:13,924,765...13,976,657 		JBrowse link
G Tmem178a transmembrane protein 178A ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:14,004,629...14,063,677
Ensembl chr 6:14,004,630...14,063,549 		JBrowse link
G Tmem247 transmembrane protein 247 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:7,696,517...7,701,464
Ensembl chr 6:7,696,512...7,701,464 		JBrowse link
G Trank1 tetratricopeptide repeat and ankyrin repeat containing 1 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chr 8:111,275,973...111,355,491
Ensembl chr 8:111,276,354...111,355,092 		JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:7,159,285...7,261,826
Ensembl chr 6:7,159,061...7,261,892 		JBrowse link
G Zfp36l2 zinc finger protein 36, C3H type-like 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 6:10,490,032...10,494,073
Ensembl chr 6:10,490,032...10,494,064 		JBrowse link
hereditary nonpolyposis colorectal cancer type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epm2aip1 EPM2A interacting protein 1 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 ClinVar PMID:28492532 NCBI chr 8:111,233,871...111,241,219
Ensembl chr 8:111,233,826...111,241,871 		JBrowse link
G Lrrfip2 LRR binding FLII interacting protein 2 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 ClinVar PMID:21785361 PMID:25741868 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: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar Annotator: match by term: Lynch syndrome II | ClinVar Annotator: match by term: MLH1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:212891 PMID:661956 PMID:1749856 PMID:1756143 PMID:1856120 More... NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617 		JBrowse link
hereditary nonpolyposis colorectal cancer type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 | ClinVar Annotator: match by term: Lynch syndrome 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:187425 PMID:216319 PMID:285143 PMID:572224 PMID:663563 More... NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Lynch syndrome 4 ClinVar PMID:7795591 PMID:12541220 PMID:14722923 PMID:15884040 PMID:16199547 More... NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
hereditary nonpolyposis colorectal cancer type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo11 F-box protein 11 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 ClinVar PMID:19250818 PMID:24689082 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662 		JBrowse link
G Msh6 mutS homolog 6 ISO
IMP		 ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:183784 PMID:183865 PMID:277857 PMID:551112 PMID:580251 More... RGD:2292505 NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Msh6m1Hubr mutS homolog 6; ENU induced mutant 1, Hubr IMP RGD PMID:18417481 RGD:2292505
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 ClinVar PMID:17016615 PMID:20186688 PMID:22290698 PMID:25741868 PMID:25980754 More... NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066 		JBrowse link
hereditary nonpolyposis colorectal cancer type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 | ClinVar Annotator: match by term: Colon cancer, hereditary nonpolyposis, type 6 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9927040 PMID:11212236 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
hereditary nonpolyposis colorectal cancer type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arel1 apoptosis resistant E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 ClinVar PMID:12702580 PMID:17656264 PMID:22290698 PMID:25741868 PMID:25927356 More... NCBI chr 6:104,560,556...104,617,712
Ensembl chr 6:104,564,986...104,617,628 		JBrowse link
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 ClinVar NCBI chr 6:104,866,926...104,873,351
Ensembl chr 6:104,866,753...104,873,353 		JBrowse link
G Mlh3 mutL homolog 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7		 CTD
OMIM
ClinVar		 PMID:9536098 PMID:11317354 PMID:11586295 PMID:12702580 PMID:12800209 More... NCBI chr 6:104,881,483...104,917,686
Ensembl chr 6:104,881,483...104,917,728 		JBrowse link
hereditary nonpolyposis colorectal cancer type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epcam epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 8
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16951683 PMID:19098912 PMID:23462293 PMID:24033266 PMID:24142340 More... NCBI chr 6:6,880,142...6,896,103
Ensembl chr 6:6,878,237...6,896,127 		JBrowse link
Lynch syndrome 1 term browser
Symbol Object Name Qualifiers 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 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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
Muir-Torre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhit fragile histidine triad diadenosine triphosphatase ISS OMIM:158320 MouseDO NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340 		JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2414824 PMID:4063166 PMID:7705822 PMID:8198129 PMID:8571956 More... NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617 		JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6096739 PMID:7585065 PMID:7713503 PMID:8566964 PMID:8592341 More... NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938 		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
          Hereditary Nonpolyposis Colorectal Cancer Type 3 0
          Lynch syndrome 1 18
          hereditary nonpolyposis colorectal cancer type 2 + 5
          hereditary nonpolyposis colorectal cancer type 4 2
          hereditary nonpolyposis colorectal cancer type 5 5
          hereditary nonpolyposis colorectal cancer type 6 1
          hereditary nonpolyposis colorectal cancer type 7 3
          hereditary nonpolyposis colorectal cancer type 8 1
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
                  Hereditary Nonpolyposis Colorectal Cancer Type 3 0
                  Lynch syndrome 1 18
                  hereditary nonpolyposis colorectal cancer type 2 + 5
                  hereditary nonpolyposis colorectal cancer type 4 2
                  hereditary nonpolyposis colorectal cancer type 5 5
                  hereditary nonpolyposis colorectal cancer type 6 1
                  hereditary nonpolyposis colorectal cancer type 7 3
                  hereditary nonpolyposis colorectal cancer type 8 1
paths to the root