HNPCC
MCID: CLR070
MIFTS: 58

Colorectal Cancer, Hereditary Nonpolyposis, Type 1 (HNPCC) malady

Genetic diseases, Gastrointestinal diseases, Cancer diseases, Rare diseases categories
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Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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47OMIM, 33MalaCards
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MalaCards: Colorectal Cancer, Hereditary Nonpolyposis, Type 1, also known as hereditary nonpolyposis colorectal cancer, is related to colorectal cancer and familial colorectal cancer, and has symptoms including kidney/renal neoplasm/tumor/carcinoma/cancer, ureteral/urethral/vesical/bladder neoplasm/tumor/carcinoma/cancer and central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1 is MSH2 (mutS homolog 2), and among its related pathways are Doxorubicin Pathway, Pharmacokinetics and Busulfan Pathway, Pharmacodynamics. The compounds 6 thioguanine and mnng have been mentioned in the context of this disorder. Affiliated tissues include colon, skin and cervix, and related mouse phenotypes are digestive/alimentary and hematopoietic system.

Description from OMIM:47 120435, 609310, 613244, 614331, 614337 614350, 614385 more

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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49Orphanet, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
hereditary nonpolyposis colorectal cancer:
Inheritance: Autosomal dominant; Age of onset: Adulthood


Aliases & Descriptions:

colorectal cancer, hereditary nonpolyposis, type 1 47
hereditary nonpolyposis colorectal cancer 49
familial nonpolyposis colorectal cancer 49
hereditary nonpolyposis colon cancer 49
familial nonpolyposis colon cancer 49
lynch syndrome 49
hnpcc 49


External Ids:

MESH via Orphanet36 D003123
ICD10 via Orphanet26 C18
SNOMED-CT via Orphanet59 315058005
UMLS via Orphanet63 C1333990

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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17GeneCards, 18GeneDecks
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Diseases in the Colorectal Cancer, Hereditary Nonpolyposis, Type 1 family:

Colorectal Cancer, Hereditary Nonpolyposis, Type 8 Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer31.1PMS2, MLH1, MLH3, PIK3CA, PMS1, TGFBR2
2familial colorectal cancer30.8MSH2, MSH6, MLH1
3adenoma30.7MLH1, PMS2, TGFBR2, MSH6, MSH2, KRAS
4lynch syndrome30.7MLH1, PMS2, MSH6, MSH2
5colon cancer30.5PIK3CA, MLH1, TGFBR2, EPCAM, MSH6, MSH2
6breast cancer30.5PIK3CA, TGFBR2, EPCAM, MSH6, MSH2, KRAS
7gastric cancer, somatic30.5KRAS, PIK3CA
8endometrial carcinoma30.5MLH1, KRAS
9familial adenomatous polyposis30.4MLH1, PMS2, PMS1, TGFBR2, MSH6, MSH2
10adenocarcinoma30.4PIK3CA, MLH1, PMS2, TGFBR2, EPCAM, MSH6
11retinoblastoma30.4KRAS, EPCAM, TGFBR2, PMS1, PIK3CA
12ovarian cancer30.4PIK3CA, MLH1, PMS2, TGFBR2, EPCAM, MSH6
13turcot syndrome30.3MLH1, PMS2
14muir-torre syndrome30.3MLH1, MSH6, MSH2
15transitional cell carcinoma30.3MLH1, TGFBR2, MSH2
16prostate cancer30.3PIK3CA, PMS2, PMS1, TGFBR2, EPCAM, MSH6
17pancreatic cancer30.2TGFBR2, EPCAM, KRAS
18melanoma30.2PIK3CA, MLH1, PMS2, PMS1, EPCAM, MSH2
19neurofibromatosis30.1MLH1, PMS2, MSH6, MSH2, KRAS
20keratoacanthoma30.1MSH2, MLH1
21kidney cancer30.0EPCAM, PMS1, PIK3CA
22hepatocellular carcinoma29.9KRAS, EPCAM, TGFBR2, PIK3CA
23sarcoma29.9KRAS, MSH2, MLH1
24small bowel adenocarcinoma10.5
25colorectal adenoma10.4
26prostatitis10.4
27male breast cancer10.3
28hereditary hemorrhagic telangiectasia10.3
29follicular lymphoma10.3
30uterine carcinosarcoma10.3
31duodenitis10.3
32lymphoepithelioma-like carcinoma10.3
33liposarcoma10.3
34non-hodgkin lymphoma10.3
35pleomorphic rhabdomyosarcoma10.3
36rhabdomyosarcoma10.3
37attenuated familial adenomatous polyposis10.3
38ciliary dyskinesia, primary, 2710.3
39desmoid tumor10.3
40fibromatosis10.3
41colorectal adenocarcinoma10.2
42endometriosis10.2
43pancreatitis10.2
44peritonitis10.2
45mlh1-related lynch syndrome10.2
46msh2-related lynch syndrome10.2
47msh6-related lynch syndrome10.2
48pms2-related lynch syndrome10.2
49cancer: lynch syndrome multi-gene panels10.2
50epcam-related lynch syndrome10.2

Graphical network of the top 20 diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:



Diseases related to colorectal cancer, hereditary nonpolyposis, type 1

Symptoms for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

120435

Clinical features from OMIM:

120435,609310,613244,614331,614337,614350,614385

Symptoms:

49 (show all 24)
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • ureteral/urethral/vesical/bladder neoplasm/tumor/carcinoma/cancer
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • ascitis
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • recurrent urinary infections
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer
  • constipation
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • intestinal obstruction/ileus
  • intestinal perforation
  • anaemia
  • colon neoplasm/tumor/carcinoma/cancer
  • rectum/rectal neoplasm/tumor/carcinoma/cancer
  • autosomal dominant inheritance
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • asthenia/fatigue/weakness
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • small bowel neoplasm/tumor/carcinoma/cancer
  • pancreatic/pancreas neoplasm/tumor/carcinoma/cancer
  • extrahepatic biliary tract/gallbladder neoplasm/tumor/carcinoma/cancer
  • malabsorption/chronic diarrhea/steatorrhea

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Search NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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33MalaCards
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MalaCards organs/tissues related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

33
Colon, Skin, Cervix, Kidney, Liver, Pancreas, Ovary, Uterus

Animal Models for Colorectal Cancer, Hereditary Nonpolyposis, Type 1 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

37 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053817.9MLH1, PMS2, TGFBR2, EPCAM, MSH2, KRAS
2MP:00053977.9PMS2, TGFBR2, EPCAM, MSH2, BMPR1A, KRAS
3MP:00036317.9KRAS, BMPR1A, MSH2, EPCAM, TGFBR2, PIK3CA
4MP:00053807.9PIK3CA, TGFBR2, EPCAM, BMPR1A, KRAS
5MP:00107717.9PIK3CA, MLH1, MSH6, MSH2, BMPR1A, KRAS
6MP:00053877.6PIK3CA, PMS2, TGFBR2, EPCAM, MSH2, BMPR1A
7MP:00053897.3PIK3CA, MLH3, MLH1, PMS2, BMPR1A, KRAS
8MP:00053846.9PIK3CA, MLH1, PMS2, TGFBR2, EPCAM, MSH6
9MP:00020066.9KRAS, PIK3CA, MLH1, PMS2, PMS1, TGFBR2
10MP:00053766.9PIK3CA, MLH1, PMS2, TGFBR2, EPCAM, MSH6
11MP:00053796.9PIK3CA, MLH3, MLH1, PMS2, TGFBR2, EPCAM
12MP:00107686.9PIK3CA, MLH1, PMS2, TGFBR2, EPCAM, MSH6

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

64 (show all 61)
id Symbol AA change Variation ID SNP ID
1MSH2p.His46GlnVAR_004470rs33946261
2MSH2p.Asn139SerVAR_004472
3MSH2p.Ile145MetVAR_004473rs63750124
4MSH2p.Asp167HisVAR_004474
5MSH2p.Ala305ThrVAR_004476
6MSH2p.Arg524ProVAR_004479
7MSH2p.Glu562ValVAR_004480
8MSH2p.Pro622LeuVAR_004482rs28929483
9MSH2p.His639TyrVAR_004483rs28929484
10MSH2p.Gly674SerVAR_004485
11MSH2p.Cys697PheVAR_004486
12MSH2p.Ala834ThrVAR_004488
13MSH2p.Gly692ArgVAR_009250
14MSH2p.Cys697ArgVAR_009251
15MSH2p.Val161AspVAR_012936
16MSH2p.Ala636ProVAR_012944
17MSH2p.Met688IleVAR_012945rs63750790
18MSH2p.Lys845GluVAR_013172rs63750571
19MSH2p.Asn127SerVAR_019234rs17217772
20MSH2p.Val163GlyVAR_022670
21MSH2p.Asp660GlyVAR_022671
22MSH2p.Thr33ProVAR_043738
23MSH2p.Thr44MetVAR_043740
24MSH2p.Ala45ValVAR_043741
25MSH2p.Leu93PheVAR_043743
26MSH2p.Val102IleVAR_043745
27MSH2p.Lys110ThrVAR_043746
28MSH2p.Gly162ArgVAR_043747
29MSH2p.Val163AspVAR_043748
30MSH2p.Gly164ArgVAR_043749
31MSH2p.Leu173ProVAR_043751
32MSH2p.Leu175ProVAR_043752
33MSH2p.Leu187ProVAR_043753
34MSH2p.Asp283TyrVAR_043757
35MSH2p.Cys333TyrVAR_043759
36MSH2p.Pro336SerVAR_043761
37MSH2p.Pro349LeuVAR_043763
38MSH2p.Arg359SerVAR_043764
39MSH2p.Lys393MetVAR_043765
40MSH2p.Met492ValVAR_043767
41MSH2p.Thr552ProVAR_043768
42MSH2p.Asn583SerVAR_043770
43MSH2p.Ala600ValVAR_043771
44MSH2p.Asp603AsnVAR_043772
45MSH2p.His639ArgVAR_043775
46MSH2p.Glu647LysVAR_043776
47MSH2p.Tyr656HisVAR_043777
48MSH2p.Ile679ThrVAR_043779
49MSH2p.Ser723PheVAR_043781
50MSH2p.Met729ValVAR_043782
51MSH2p.Thr732IleVAR_043783
52MSH2p.Glu749LysVAR_043785
53MSH2p.Met813ValVAR_043786
54MSH2p.His839ArgVAR_043788
55MSH2p.Glu886GlyVAR_043793
56MSH2p.Lys931ThrVAR_043795
57MSH2p.Ala2ThrVAR_054511
58MSH2p.Gly162AlaVAR_054512
59MSH2p.Glu198GlyVAR_054513
60MSH2p.Gly674ArgVAR_067288
61MSH2p.Gly669ArgVAR_067761

Clinvar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

1 (show all 38)
id Gene Name Type Significance SNP ID Assembly Location
1MLH1NM_000249.3(MLH1): c.131C> T (p.Ser44Phe)single nucleotide variantPathogenicrs63751109GRCh37Chr 3, 37038124: 37038124
2MLH1NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del)deletionPathogenicrs63751247GRCh37Chr 3, 37089130: 37089132
3MLH1NM_000249.3(MLH1): c.986A> C (p.His329Pro)single nucleotide variantPathogenicrs63750710GRCh37Chr 3, 37061902: 37061902
4MLH1NM_000249.3(MLH1): c.676C> T (p.Arg226Ter)single nucleotide variantPathogenicrs63751615GRCh37Chr 3, 37053589: 37053589
5MLH1NM_000249.3(MLH1): c.199G> T (p.Gly67Trp)single nucleotide variantPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
6MLH1NM_000249.3(MLH1): c.1733A> G (p.Glu578Gly)single nucleotide variantBenign, Pathogenicrs63751612GRCh37Chr 3, 37089011: 37089011
7MLH1NM_000249.3(MLH1): c.350C> T (p.Thr117Met)single nucleotide variantPathogenicrs63750781GRCh37Chr 3, 37045935: 37045935
8MLH1NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser)single nucleotide variantPathogenicrs63750899GRCh37Chr 3, 37090053: 37090053
9MLH1NM_000249.3(MLH1): c.806C> G (p.Ser269Ter)single nucleotide variantPathogenicrs63750691GRCh37Chr 3, 37059012: 37059012
10MLH1NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr)single nucleotide variantPathogenicrs63750217GRCh37Chr 3, 37090446: 37090446
11MLH1NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn)indelPathogenicrs121912965GRCh37Chr 3, 37035142: 37035143
12MLH1NM_000249.3(MLH1): c.200G> A (p.Gly67Glu)single nucleotide variantPathogenicrs63749939GRCh37Chr 3, 37038193: 37038193
13MSH2NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu)single nucleotide variantPathogenicrs28929483GRCh37Chr 2, 47702269: 47702269
14MSH2MSH2, DEL 50 CODONSdeletionPathogenic
15MSH2NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter)single nucleotide variantPathogenicrs63751108GRCh37Chr 2, 47657020: 47657020
16MSH2NM_000251.2(MSH2): c.1915C> T (p.His639Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs28929484GRCh37Chr 2, 47702319: 47702319
17MSH2NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del)deletionPathogenicrs63749831GRCh37Chr 2, 47702190: 47702192
18MSH2NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter)single nucleotide variantPathogenicrs63750047GRCh37Chr 2, 47702205: 47702205
19MSH2NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro)single nucleotide variantLikely pathogenic, Pathogenicrs63751207GRCh37Chr 2, 47693857: 47693857
20MSH2NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs)deletionPathogenicrs63749811GRCh37Chr 2, 47703613: 47703613
21MSH2NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs)duplicationPathogenicGRCh37Chr 2, 47635597: 47635618
22MSH2NM_000251.2(MSH2): c.454delA (p.Met152Cysfs)deletionPathogenicrs63751449GRCh37Chr 2, 47637320: 47637320
23MSH2nsv513794deletionPathogenic
24MSH2NG_007110.2: g.4247_24291deldeletionPathogenicGRCh38Chr 2, 47402370: 47422414
25MLH1NM_000249.3(MLH1): c.793C> T (p.Arg265Cys)single nucleotide variantPathogenic, Uncertain significancers63751194GRCh37Chr 3, 37058999: 37058999
26MLH1NM_000249.3(MLH1): c.1865T> A (p.Leu622His)single nucleotide variantPathogenicrs63750693GRCh37Chr 3, 37089143: 37089143
27MSH2NM_000251.2(MSH2): c.942+3A> Tsingle nucleotide variantPathogenicrs193922376GRCh37Chr 2, 47641560: 47641560
28MSH6NM_000179.2(MSH6): c.3386_3388delGTG (p.Cys1129_Val1130delinsLeu)deletionPathogenic, Uncertain significanceGRCh37Chr 2, 48030772: 48030774
29MLH1NM_000249.3(MLH1): c.306+5G> Asingle nucleotide variantPathogenicrs267607735GRCh37Chr 3, 37042549: 37042549
30MSH2NM_000251.2(MSH2): c.1457_1460delATGA (p.Asn486Thrfs)deletionPathogenicGRCh37Chr 2, 47690240: 47690243
31MSH2NM_000251.2(MSH2): c.1662-1G> Asingle nucleotide variantPathogenicrs267607970GRCh37Chr 2, 47698103: 47698103
32MSH2NM_000251.2(MSH2): c.2006-5T> Asingle nucleotide variantPathogenic, Uncertain significancers267607990GRCh37Chr 2, 47703501: 47703501
33PMS2NM_000535.5(PMS2): c.1306dupA (p.Ser436Lysfs)duplicationPathogenicrs63750106GRCh37Chr 7, 6027090: 6027090
34PMS2NM_000535.5(PMS2): c.400C> T (p.Arg134Ter)single nucleotide variantPathogenicrs63750871GRCh37Chr 7, 6042221: 6042221
35PMS2NM_000535.5(PMS2): c.1221delG (p.Thr408Leufs)deletionPathogenicGRCh37Chr 7, 6027175: 6027175
36PMS2NM_000535.5(PMS2): c.2404C> T (p.Arg802Ter)single nucleotide variantPathogenicrs63751466GRCh37Chr 7, 6017260: 6017260
37PMS2NM_000535.5(PMS2): c.1882C> T (p.Arg628Ter)single nucleotide variantPathogenicrs63750451GRCh37Chr 7, 6026514: 6026514
38PMS2NM_000535.5(PMS2): c.137G> T (p.Ser46Ile)single nucleotide variantLikely pathogenic, Pathogenic, Uncertain significancers121434629GRCh37Chr 7, 6045549: 6045549

Expression for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Search GEO for disease gene expression data for Colorectal Cancer, Hereditary Nonpolyposis, Type 1.

Pathways for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Sources:
50PathCards, 51PharmGKB, 38NCBI BioSystems Database, 55Reactome, 60Thomson Reuters, 30KEGG, 5Cell Signaling Technology, 53QIAGEN, 57SinoBiological, 61Tocris Bioscience
See all sources

Pathways related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7MSH2, MLH1
2
Show member pathways
Catalytic cycle of mammalian FMOs38
9.7MSH2, MLH1
39.6PIK3CA, TGFBR2
49.6TGFBR2, PIK3CA
59.5PMS2, MLH1
69.4MLH1, MSH6, MSH2
7
Show member pathways
9.4MSH2, MSH6, MLH1
8
Show member pathways
Prostate Cancer38
Integrated Cancer pathway38
Steroid Biosynthesis38
9.4MSH2, MSH6, PIK3CA
99.3MSH2, PMS2, MLH1
109.1KRAS, PIK3CA
11
Show member pathways
9.1PIK3CA, KRAS
129.1KRAS, PIK3CA
139.0MLH1, TGFBR2, MSH6, MSH2
149.0TGFBR2, BMPR1A, KRAS
15
Show member pathways
Signaling Pathways in Glioblastoma38
8.8PIK3CA, MSH6, KRAS
168.8KRAS, TGFBR2, PIK3CA
17
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
8.8KRAS, TGFBR2, PIK3CA
18
Show member pathways
Toll-like receptor signaling pathway38
Regulation of toll-like receptor signaling pathway38
8.8PIK3CA, TGFBR2, KRAS
19
Show member pathways
8.8KRAS, TGFBR2, PIK3CA
20
Show member pathways
PLK2 and PLK4 events38
Polo-like kinase signaling events in the cell cycle38
8.8PIK3CA, TGFBR2, KRAS
21
Show member pathways
8.5PIK3CA, TGFBR2, BMPR1A, KRAS
22
Show member pathways
8.5PIK3CA, TGFBR2, BMPR1A, KRAS
238.5TGFBR2, MSH6, MSH2, BMPR1A, KRAS
24
Show member pathways
8.0MSH2, MSH6, PMS1, PMS2, MLH1, MLH3
25
Show member pathways
Signal transduction PTEN pathway60
7.7PIK3CA, MLH1, TGFBR2, MSH6, MSH2, KRAS
267.7PIK3CA, MLH1, TGFBR2, MSH6, MSH2, KRAS

Compounds for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Sources:
45Novoseek, 11DrugBank, 24HMDB, 51PharmGKB, 61Tocris Bioscience
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Compounds related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
16 thioguanine459.9MSH2, MLH1
2mnng459.9MLH1, MSH2
3temozolomide45 1110.9MSH2, MLH1
4n-methyl-n-nitrosourea459.7MSH2, MSH6, MLH1
5adenine45 24 1111.6MLH1, TGFBR2, MSH2
6mhs-2459.5MLH1, PMS2, PMS1
75-aza-2deoxycytidine459.5TGFBR2, PMS1, MLH1
8mononucleotide459.4MLH1, TGFBR2, MSH6, MSH2
9doxorubicin45 51 1111.1MSH2, MSH6, MLH1, PIK3CA
10erlotinib45 51 1111.1PIK3CA, KRAS
11biotin45 24 1111.0MLH1, PMS2, TGFBR2, MSH6, MSH2
12o6-methylguanine458.9KRAS, MSH2, MSH6, MLH1
13threonine458.8PIK3CA, MLH1, TGFBR2, MSH6, BMPR1A
14paclitaxel45 51 1110.7KRAS, MLH1, PIK3CA
15ly294002458.7KRAS, TGFBR2, PIK3CA
16wortmannin458.5PIK3CA, TGFBR2, KRAS
17vegf458.4PIK3CA, MLH1, TGFBR2, KRAS
18cisplatin45 51 61 1111.3KRAS, MSH2, MSH6, MLH1, PIK3CA
195fluorouracil458.3PIK3CA, MLH1, EPCAM, MSH2, KRAS
20estrogen458.3KRAS, TGFBR2, MLH1, PIK3CA
21serine458.2PIK3CA, TGFBR2, MSH6, MSH2, BMPR1A, KRAS
22paraffin458.2MLH1, PMS2, EPCAM, MSH6, MSH2, KRAS
23tyrosine458.0PIK3CA, MLH1, TGFBR2, MSH6, KRAS
24crcs457.6KRAS, MSH2, MSH6, TGFBR2, PMS2, MLH1

GO Terms for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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16Gene Ontology
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Cellular components related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MutSalpha complexGO:03230110.0MSH6, MSH2
2nuclear chromosomeGO:0002289.9MSH2, MSH6
3MutLbeta complexGO:0323909.4MLH3, MLH1
4chiasmaGO:0057129.3MLH3, MLH1
5MutLalpha complexGO:0323899.3MLH1, PMS2, PMS1
6male germ cell nucleusGO:0016739.2MLH1, MLH3
7synaptonemal complexGO:0007959.0MLH1, MLH3
8mismatch repair complexGO:0323008.7PMS1, PMS2, MLH1, MLH3

Biological processes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1meiotic mismatch repairGO:00071010.1MSH2, MSH6
2maintenance of DNA repeat elementsGO:04357010.1MSH2, MSH6
3positive regulation of helicase activityGO:05109610.1MSH6, MSH2
4negative regulation of DNA recombinationGO:04591010.1MSH2, MSH6
5determination of adult lifespanGO:00834010.0MSH6, MSH2
6somatic recombination of immunoglobulin gene segmentsGO:0164479.8MSH2, MSH6, PMS2
7positive regulation of mesenchymal cell proliferationGO:0020539.7TGFBR2, BMPR1A
8intrinsic apoptotic signaling pathway in response to DNA damageGO:0086309.7MSH6, MLH1
9isotype switchingGO:0451909.6MLH1, MSH6, MSH2
10in utero embryonic developmentGO:0017019.6BMPR1A, MSH2, TGFBR2
11somatic hypermutation of immunoglobulin genesGO:0164469.2MLH1, PMS2, MSH6, MSH2
12response to drugGO:0424939.0TGFBR2, PMS1, PMS2
13negative regulation of neuron apoptotic processGO:0435249.0KRAS, MSH2, PIK3CA
14reciprocal meiotic recombinationGO:0071318.5MLH3, MLH1, PMS2, PMS1, MSH6
15mismatch repairGO:0062988.3MSH2, MSH6, PMS1, PMS2, MLH1, MLH3
16ATP catabolic processGO:0062008.3MLH3, MLH1, PMS2, PMS1, MSH6, MSH2

Molecular functions related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1single thymine insertion bindingGO:03214310.2MSH6, MSH2
2single guanine insertion bindingGO:03214210.1MSH2, MSH6
3oxidized purine DNA bindingGO:03235710.1MSH2, MSH6
4MutLalpha complex bindingGO:03240510.1MSH6, MSH2
5transmembrane receptor protein serine/threonine kinase activityGO:00467510.0BMPR1A, TGFBR2
6four-way junction DNA bindingGO:00040010.0MSH2, MSH6
7transforming growth factor beta-activated receptor activityGO:0050249.8TGFBR2, BMPR1A
8SMAD bindingGO:0463329.8BMPR1A, TGFBR2
9ADP bindingGO:0435319.8MSH2, MSH6
10centromeric DNA bindingGO:0192379.7MSH2, MLH3
11guanine/thymine mispair bindingGO:0321379.7MLH1, MSH6, MSH2
12DNA-dependent ATPase activityGO:0080949.6MSH2, MSH6
13LRR domain bindingGO:0302759.4LRRFIP2, KRAS
14mismatched DNA bindingGO:0309839.2MSH2, MSH6, PMS1, MLH3
15MutSalpha complex bindingGO:0324078.9MLH3, MLH1, PMS2, PMS1
16single-stranded DNA bindingGO:0036978.6MLH3, MLH1, PMS2, PMS1, MSH2
17ATPase activityGO:0168878.3MSH2, MSH6, PMS1, PMS2, MLH1, MLH3
18ATP bindingGO:0055247.1PIK3CA, MLH3, MLH1, PMS2, PMS1, TGFBR2
19protein bindingGO:0055155.9PIK3CA, MLH3, MLH1, LRRFIP2, PMS2, TGFBR2

Products for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet