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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 chr17:84,965,602...84,990,439
Ensembl chr17:84,965,662...84,990,439 		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 chr17:84,983,730...85,007,761
Ensembl chr17:84,983,730...85,007,761 		JBrowse link
G Acvr2a activin receptor IIA ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 2:48,704,121...48,793,276
Ensembl chr 2:48,704,121...48,793,281 		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 chr 5:143,839,522...143,846,657
Ensembl chr 5:143,839,522...143,846,665 		JBrowse link
G Apc APC, WNT signaling pathway regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:7661930 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
G Arhgef33 Rho guanine nucleotide exchange factor 33 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:80,614,354...80,740,926
Ensembl chr17:80,614,836...80,707,510 		JBrowse link
G Aste1 asteroid homolog 1 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 9:105,272,533...105,285,497
Ensembl chr 9:105,272,591...105,289,428 		JBrowse link
G Atl2 atlastin GTPase 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:80,155,819...80,203,633
Ensembl chr17:80,155,819...80,203,552 		JBrowse link
G Atp6v1e2 ATPase, H+ transporting, lysosomal V1 subunit E2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:87,251,537...87,255,315
Ensembl chr17:87,251,537...87,255,325 		JBrowse link
G Brca2 breast cancer 2, early onset ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		JBrowse link
G Calm2 calmodulin 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:87,740,829...87,754,363
Ensembl chr17:87,740,840...87,754,363 		JBrowse link
G Camkmt calmodulin-lysine N-methyltransferase ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:85,397,989...85,766,017
Ensembl chr17:85,397,980...85,766,016 		JBrowse link
G Car12 carbonic anhydrase 12 ISO protein:decreased expression:colorectum RGD PMID:17855694 RGD:155226867 NCBI chr 9:66,619,026...66,674,127
Ensembl chr 9:66,620,968...66,674,127 		JBrowse link
G Car2 carbonic anhydrase 2 ISO protein:decreased expression:colorectum RGD PMID:17855694 RGD:155226867 NCBI chr 3:14,951,329...14,965,830
Ensembl chr 3:14,951,333...14,965,830 		JBrowse link
G Car9 carbonic anhydrase 9 ISO protein:increased expression:colorectum RGD PMID:17855694 RGD:155226867 NCBI chr 4:43,507,026...43,513,729
Ensembl chr 4:43,506,966...43,513,729 		JBrowse link
G Ccz1 CCZ1 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 chr 5:143,924,727...143,951,744
Ensembl chr 5:143,924,727...143,951,695 		JBrowse link
G Cd44 CD44 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28255344 NCBI chr 2:102,641,486...102,732,014
Ensembl chr 2:102,641,486...102,732,010 		JBrowse link
G Cdkl4 cyclin dependent kinase like 4 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:80,830,979...80,885,242
Ensembl chr17:80,830,979...80,885,242 		JBrowse link
G Cox7a2l cytochrome c oxidase subunit 7A2 like ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:83,809,346...83,821,762
Ensembl chr17:83,809,347...83,824,759 		JBrowse link
G Cript cysteine-rich PDZ-binding protein ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:87,332,989...87,343,236
Ensembl chr17:87,332,978...87,343,238 		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 chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490 		JBrowse link
G Cyp2a4 cytochrome P450, family 2, subfamily a, polypeptide 4 ISO ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer ClinVar PMID:28306719 NCBI chr 7:26,006,617...26,014,513
Ensembl chr 7:26,006,594...26,014,513 		JBrowse link
G Dhx57 DExH-box helicase 57 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:80,545,733...80,597,620
Ensembl chr17:80,545,738...80,597,905 		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 chr17:84,933,903...84,962,996
Ensembl chr17:84,933,924...84,963,016 		JBrowse link
G E2f4 E2F transcription factor 4 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 8:106,024,295...106,032,002
Ensembl chr 8:106,024,295...106,032,002 		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 chr 5:143,803,586...143,839,535
Ensembl chr 5:143,803,543...143,841,069 		JBrowse link
G Eif2b2 eukaryotic translation initiation factor 2B, subunit 2 beta ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:25741868 NCBI chr12:85,266,255...85,273,402
Ensembl chr12:85,266,255...85,273,402 		JBrowse link
G Eml4 echinoderm microtubule associated protein like 4 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:83,658,341...83,787,790
Ensembl chr17:83,658,360...83,787,790 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:87,061,292...87,140,838
Ensembl chr17:87,061,128...87,140,838 		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 chr17:87,943,407...87,958,555
Ensembl chr17:87,943,407...87,958,557 		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 9:111,100,913...111,108,161
Ensembl chr 9:111,100,997...111,108,161 		JBrowse link
G Fancm Fanconi anemia, 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 chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832 		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 chr17:88,298,287...88,373,473
Ensembl chr17:88,298,287...88,372,719 		JBrowse link
G Galm galactose mutarotase ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:80,434,886...80,492,461
Ensembl chr17:80,434,900...80,492,530 		JBrowse link
G Gemin6 gem nuclear organelle associated protein 6 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:80,514,933...80,535,926
Ensembl chr17:80,531,870...80,535,926 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO DNA:deletion, haplotype: : (human) RGD PMID:9834266 RGD:12792228 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO DNA:deletion, haplotype:: (human) RGD PMID:9834266 RGD:12792228 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:84,138,777...84,157,589
Ensembl chr17:84,138,585...84,155,392 		JBrowse link
G Hnrnpll heterogeneous nuclear ribonucleoprotein L-like ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:80,336,916...80,369,697
Ensembl chr17:80,336,916...80,369,697 		JBrowse link
G Kcng3 potassium voltage-gated channel, subfamily G, member 3 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:83,881,452...83,939,595
Ensembl chr17:83,893,386...83,939,324 		JBrowse link
G Kcnk12 potassium 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 chr17:88,049,100...88,106,329
Ensembl chr17:88,053,229...88,105,422 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Lrpprc leucine-rich PPR-motif containing ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:85,012,675...85,098,214
Ensembl chr17:85,012,675...85,098,217 		JBrowse link
G Lrrfip2 leucine rich repeat (in 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 9:110,946,614...111,054,736
Ensembl chr 9:110,946,660...111,054,736 		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 chr17:80,887,942...81,039,118
Ensembl chr17:80,887,941...81,035,914 		JBrowse link
G Marcks myristoylated alanine rich protein kinase C substrate ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr10:37,009,239...37,014,922
Ensembl chr10:37,009,371...37,014,916 		JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:87,561,871...87,573,382
Ensembl chr17:87,561,871...87,573,363 		JBrowse link
G Mlh1 mutL homolog 1 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:120435 | OMIM:609310 | OMIM:613244 | OMIM:614331 | OMIM:614337 | OMIM:614350 | OMIM:614385
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
MouseDO
ClinVar
RGD		 PMID:212891 PMID:1061282 PMID:1749856 PMID:1756143 PMID:1856120 More... RGD:153297765 NCBI chr 9:111,057,296...111,100,854
Ensembl chr 9:111,057,296...111,100,859 		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 chr12:85,281,240...85,317,421
Ensembl chr12:85,281,294...85,317,373 		JBrowse link
G Morn2 MORN repeat containing 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:80,597,626...80,613,130
Ensembl chr17:80,597,632...80,604,905 		JBrowse link
G Mre11a MRE11A homolog A, double strand break repair nuclease ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 9:14,695,971...14,748,421
Ensembl chr 9:14,695,950...14,748,419 		JBrowse link
G Msh2 mutS homolog 2 onset ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:120435 | OMIM:609310 | OMIM:613244 | OMIM:614331 | OMIM:614337 | OMIM:614350 | OMIM:614385
DNA:missense mutation:exon:p.M688R (c.2063T>G) (human)
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 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
MouseDO
ClinVar
RGD		 PMID:187139 PMID:261128 PMID:273149 PMID:439855 PMID:580563 More... RGD:126790559, RGD:11063948, RGD:153297765 NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141 		JBrowse link
G Msh6 mutS homolog 6 ISO HNPCC5, DNA:deletion:exon:L222X
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:1625106, RGD:1600460, RGD:153297765 NCBI chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320 		JBrowse link
G Mta3 metastasis associated 3 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:84,013,483...84,131,144
Ensembl chr17:84,013,592...84,128,945 		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 4:133,280,687...133,283,997
Ensembl chr 4:133,280,687...133,283,847 		JBrowse link
G Nudc nudC nuclear distribution protein 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 4:133,259,853...133,273,338
Ensembl chr 4:133,259,853...133,273,307 		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 chr 5:143,956,615...143,987,691
Ensembl chr 5:143,956,622...143,963,488 		JBrowse link
G Ormdl1 ORM1-like 1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chr 1:53,336,254...53,349,404
Ensembl chr 1:53,336,254...53,349,468 		JBrowse link
G Pigf phosphatidylinositol glycan anchor biosynthesis, class F ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:87,304,686...87,332,972
Ensembl chr17:87,304,684...87,332,834 		JBrowse link
G Pkdcc protein kinase domain containing, cytoplasmic ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:83,522,708...83,532,496
Ensembl chr17:83,522,721...83,532,499 		JBrowse link
G Plekhh2 pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:84,819,303...84,929,571
Ensembl chr17:84,819,323...84,929,566 		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 PMID:25741868 NCBI chr 1:53,225,794...53,336,190
Ensembl chr 1:53,228,346...53,336,177 		JBrowse link
G Pms2 PMS1 homolog2, 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: 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
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
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 chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786
Ensembl chr 5:143,846,782...143,870,786 		JBrowse link
G Ppm1b protein phosphatase 1B, magnesium dependent, beta isoform ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:85,264,169...85,331,420
Ensembl chr17:85,264,169...85,331,419 		JBrowse link
G Prepl prolyl endopeptidase-like ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:85,370,122...85,397,702
Ensembl chr17:85,370,898...85,397,669 		JBrowse link
G Prkce protein kinase C, epsilon ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:86,472,631...86,965,347
Ensembl chr17:86,475,213...86,965,347 		JBrowse link
G Rhoq ras homolog family member Q ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:87,270,539...87,307,497
Ensembl chr17:87,270,510...87,307,497 		JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:79,886,025...80,000,630
Ensembl chr17:79,919,292...80,000,621 		JBrowse link
G Rnasel ribonuclease L (2', 5'-oligoisoadenylate synthetase-dependent) onset ISO RGD PMID:16054567 RGD:2292000 NCBI chr 1:153,625,089...153,644,441
Ensembl chr 1:153,625,172...153,639,967 		JBrowse link
G Rnaset2a ribonuclease T2A ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr17:8,347,412...8,367,078
Ensembl chr17:8,334,277...8,366,929 		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 4:3,831,334...3,835,600
Ensembl chr 4:3,831,334...3,835,665 		JBrowse link
G Six2 sine oculis-related homeobox 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:85,970,276...85,995,682
Ensembl chr17:85,991,705...85,995,702 		JBrowse link
G Six3 sine oculis-related homeobox 3 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:85,921,036...85,933,619
Ensembl chr17:85,921,036...85,936,730 		JBrowse link
G Slc22a19 solute carrier family 22 (organic anion transporter), member 19 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr19:7,650,440...7,688,675
Ensembl chr19:7,650,426...7,688,675 		JBrowse link
G Slc3a1 solute carrier family 3, member 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:85,335,775...85,371,669
Ensembl chr17:85,335,804...85,371,664 		JBrowse link
G Slc8a1 solute carrier family 8 (sodium/calcium exchanger), member 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:81,680,534...82,045,816
Ensembl chr17:81,680,534...82,045,806 		JBrowse link
G Smad2 SMAD family member 2 ISO RGD PMID:10819637 RGD:1599900 NCBI chr18:76,369,898...76,444,819
Ensembl chr18:76,374,651...76,444,034 		JBrowse link
G Smad3 SMAD family member 3 ISO RGD PMID:10819637 RGD:1599900 NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276 		JBrowse link
G Smad4 SMAD family member 4 ISO RGD PMID:10819637 RGD:1599900 NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		JBrowse link
G Socs5 suppressor of cytokine signaling 5 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:87,414,707...87,445,153
Ensembl chr17:87,415,107...87,445,267 		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 chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882 		JBrowse link
G Srbd1 S1 RNA binding domain 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:86,292,093...86,452,644
Ensembl chr17:86,292,093...86,452,603 		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 chr17:80,507,509...80,514,734
Ensembl chr17:80,507,509...80,514,736 		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 chr17:87,696,998...87,735,526
Ensembl chr17:87,696,999...87,735,169 		JBrowse link
G Taf1b TATA-box binding protein associated factor, RNA polymerase I, B ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr12:24,548,580...24,608,570
Ensembl chr12:24,548,358...24,608,538 		JBrowse link
G Tcf4 transcription factor 4 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr18:69,476,500...69,821,038
Ensembl chr18:69,476,427...69,822,150 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO RGD PMID:17613544 RGD:2306282 NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II 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 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		JBrowse link
G Thada thyroid adenoma associated ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:84,497,484...84,773,674
Ensembl chr17:84,497,504...84,773,633 		JBrowse link
G Thumpd2 THUMP domain containing 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:81,331,676...81,372,542
Ensembl chr17:81,333,761...81,372,511 		JBrowse link
G Tmem178 transmembrane protein 178 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:81,252,061...81,309,245
Ensembl chr17:81,252,061...81,309,245 		JBrowse link
G Tmem247 transmembrane protein 247 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:87,224,776...87,229,795
Ensembl chr17:87,224,776...87,229,802 		JBrowse link
G Trank1 tetratricopeptide repeat and ankyrin repeat containing 1 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chr 9:111,140,351...111,224,843
Ensembl chr 9:111,140,807...111,224,843 		JBrowse link
G Ttc7 tetratricopeptide repeat domain 7 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr17:87,590,328...87,689,197
Ensembl chr17:87,590,314...87,689,197 		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 chr17:84,491,352...84,495,375
Ensembl chr17:84,491,359...84,495,375 		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 9:111,100,913...111,108,161
Ensembl chr 9:111,100,997...111,108,161 		JBrowse link
G Lrrfip2 leucine rich repeat (in FLII) interacting protein 2 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 ClinVar PMID:21785361 PMID:25741868 NCBI chr 9:110,946,614...111,054,736
Ensembl chr 9:110,946,660...111,054,736 		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 9:111,057,296...111,100,854
Ensembl chr 9:111,057,296...111,100,859 		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 homolog2, 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 chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786
Ensembl chr 5:143,846,782...143,870,786 		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 chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		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 chr17:88,298,287...88,373,473
Ensembl chr17:88,298,287...88,372,719 		JBrowse link
G Msh6 mutS homolog 6 ISO 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 chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320 		JBrowse link
G Pms2 PMS1 homolog2, 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 chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786
Ensembl chr 5:143,846,782...143,870,786 		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 II 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 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		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 chr12:84,964,914...85,017,674
Ensembl chr12:84,964,922...85,017,674 		JBrowse link
G Eif2b2 eukaryotic translation initiation factor 2B, subunit 2 beta ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 ClinVar NCBI chr12:85,266,255...85,273,402
Ensembl chr12:85,266,255...85,273,402 		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 chr12:85,281,240...85,317,421
Ensembl chr12:85,281,294...85,317,373 		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 chr17:87,943,407...87,958,555
Ensembl chr17:87,943,407...87,958,557 		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 chr 5:143,839,522...143,846,657
Ensembl chr 5:143,839,522...143,846,665 		JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Ccz1 CCZ1 vacuolar protein trafficking and biogenesis associated ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 PMID:36647049 NCBI chr 5:143,924,727...143,951,744
Ensembl chr 5:143,924,727...143,951,695 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011 		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 chr 5:143,803,586...143,839,535
Ensembl chr 5:143,803,543...143,841,069 		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 chr17:87,943,407...87,958,555
Ensembl chr17:87,943,407...87,958,557 		JBrowse link
G Kcnk12 potassium channel, subfamily K, member 12 ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar NCBI chr17:88,049,100...88,106,329
Ensembl chr17:88,053,229...88,105,422 		JBrowse link
G Lrrfip2 leucine rich repeat (in FLII) interacting protein 2 ISO ClinVar Annotator: match by term: Lynch syndrome II ClinVar PMID:21785361 NCBI chr 9:110,946,614...111,054,736
Ensembl chr 9:110,946,660...111,054,736 		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 9:111,057,296...111,100,854
Ensembl chr 9:111,057,296...111,100,859 		JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:85,281,240...85,317,421
Ensembl chr12:85,281,294...85,317,373 		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 chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141 		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 chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320 		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 4:116,664,846...116,676,641
Ensembl chr 4:116,664,920...116,676,637 		JBrowse link
G Ocm oncomodulin ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 PMID:36647049 NCBI chr 5:143,956,615...143,987,691
Ensembl chr 5:143,956,622...143,963,488 		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 1:53,225,794...53,336,190
Ensembl chr 1:53,228,346...53,336,177 		JBrowse link
G Pms2 PMS1 homolog2, 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 chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786
Ensembl chr 5:143,846,782...143,870,786 		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 chr11:82,762,786...82,781,571
Ensembl chr11:82,767,260...82,781,440 		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 gene IAGP OMIM:158320 MouseDO NCBI chr14:11,307,718...12,919,681
Ensembl chr14:11,307,738...12,919,681 		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 9:111,057,296...111,100,854
Ensembl chr 9:111,057,296...111,100,859 		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 chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16106
    disease of cellular proliferation 7515
      Hereditary Neoplastic Syndromes 1287
        Lynch syndrome 102
          Hereditary Nonpolyposis Colorectal Cancer Type 3 0
          Lynch syndrome 1 17
          hereditary nonpolyposis colorectal cancer type 2 + 5
          hereditary nonpolyposis colorectal cancer type 4 2
          hereditary nonpolyposis colorectal cancer type 5 3
          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 16106
    Developmental Disease 13806
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12831
        genetic disease 12479
          monogenic disease 10414
            autosomal genetic disease 9592
              autosomal dominant disease 6339
                Lynch syndrome 102
                  Hereditary Nonpolyposis Colorectal Cancer Type 3 0
                  Lynch syndrome 1 17
                  hereditary nonpolyposis colorectal cancer type 2 + 5
                  hereditary nonpolyposis colorectal cancer type 4 2
                  hereditary nonpolyposis colorectal cancer type 5 3
                  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