HNPCC6
MCID: CLR055
MIFTS: 42

Colorectal Cancer, Hereditary Nonpolyposis, Type 6 (HNPCC6)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

MalaCards integrated aliases for Colorectal Cancer, Hereditary Nonpolyposis, Type 6:

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 6 56 13 71
Hereditary Nonpolyposis Colorectal Cancer Type 6 12 29 6 15
Hnpcc6 56 12 73
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 6 39
Colon Cancer, Hereditary Nonpolyposis, Type 6 56
Hereditary Non-Polyposis Colorectal Cancer 6 73

Characteristics:

HPO:

31
colorectal cancer, hereditary nonpolyposis, type 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070273
OMIM 56 614331
OMIM Phenotypic Series 56 PS120435
MeSH 43 D003123
MedGen 41 C1860896
SNOMED-CT via HPO 68 263681008
UMLS 71 C1860896

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

UniProtKB/Swiss-Prot : 73 Hereditary non-polyposis colorectal cancer 6: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra- colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.

MalaCards based summary : Colorectal Cancer, Hereditary Nonpolyposis, Type 6, also known as hereditary nonpolyposis colorectal cancer type 6, is related to biliary tract cancer and polyposis syndrome, hereditary mixed, 1. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 6 is TGFBR2 (Transforming Growth Factor Beta Receptor 2), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Endometrial cancer. Affiliated tissues include colon, small intestine and skin, and related phenotypes are hereditary nonpolyposis colorectal carcinoma and Increased viability with MLN4924 (a NAE inhibitor)

Disease Ontology : 12 A Lynch syndrome that has material basis in heterozygous mutation in the TGFBR2 gene on chromosome 3p22.

More information from OMIM: 614331 PS120435

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Diseases in the Colorectal Cancer, Hereditary Nonpolyposis, Type 5 family:

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

Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 biliary tract cancer 10.1 TGFBR2 MLH1
2 polyposis syndrome, hereditary mixed, 1 10.0 MUTYH MLH1
3 gastrointestinal adenoma 10.0 PMS2 MUTYH
4 spindle cell intraocular melanoma 10.0 PMS2 MLH1
5 jejunal adenocarcinoma 9.9 MSH6 MLH1
6 periampullary adenoma 9.9 PMS2 MSH6
7 fallopian tube endometrioid adenocarcinoma 9.9 PMS2 MSH6
8 myh-associated polyposis 9.8 MUTYH MSH2
9 uterine corpus cancer 9.8 MSH6 MLH1
10 ascending colon cancer 9.7 MSH2 MLH1
11 lower lip cancer 9.7 MSH2 MLH1
12 anal fistula 9.7 MSH2 MLH1
13 melanocytic nevus syndrome, congenital 9.7 MSH2 MLH1
14 ureter, cancer of 9.7 MSH2 MLH1
15 cecum carcinoma 9.7 MSH2 MLH1
16 signet ring cell adenocarcinoma 9.7 MSH2 MLH1
17 cervical mucinous adenocarcinoma 9.6 MSH6 MSH2
18 legius syndrome 9.6 MSH6 MSH2
19 keratoacanthoma 9.6 MSH2 MLH1
20 alveolar soft part sarcoma 9.5 MSH2 MLH1
21 colorectal cancer, hereditary nonpolyposis, type 4 9.5 PTPN13 PMS2 PMS1 MLH1
22 duodenum disease 9.4 MUTYH MSH2 MLH1
23 colorectal adenoma 9.4 MUTYH MSH2 MLH1
24 colon adenocarcinoma 9.4 PMS2 MSH6 MLH1
25 ovary adenocarcinoma 9.4 MSH2 MLH1
26 attenuated familial adenomatous polyposis 9.4 MUTYH MSH6 MSH2
27 renal pelvis transitional cell carcinoma 9.3 MSH6 MSH2 MLH1
28 cervical adenoma malignum 9.3 MSH6 MSH2 MLH1
29 autosomal dominant non-syndromic intellectual disability 8 9.3 MSH6 MSH2 MLH1
30 mental retardation, autosomal dominant 20 9.3 MSH6 MSH2 MLH1
31 dysplastic nevus syndrome 9.3 MSH6 MSH2 MLH1
32 skin benign neoplasm 9.3 MSH6 MSH2 MLH1
33 endometrial hyperplasia 9.3 MSH6 MSH2 MLH1
34 neuroma 9.3 MUTYH MSH2
35 basal cell carcinoma 9.3 TGFBR2 MSH2 MLH1
36 ulcerative colitis 9.2 MSH6 MSH2 MLH1
37 colitis 9.2 MSH6 MSH2 MLH1
38 familial colorectal cancer 9.2 TGFBR2 MUTYH MSH2 MLH1
39 rhabdomyosarcoma 9.1 PMS2 MSH6 MSH2
40 rectum signet ring adenocarcinoma 9.1 PMS2 PMS1 MSH2 MLH1
41 xeroderma pigmentosum, variant type 9.1 MSH6 MSH2 MLH1
42 adenocarcinoma 9.1 TGFBR2 MSH6 MSH2 MLH1
43 rectum cancer 9.0 MUTYH MSH6 MSH2 MLH1
44 cell type benign neoplasm 9.0 MUTYH MSH6 MSH2 MLH1
45 adenosquamous colon carcinoma 9.0 PMS2 MSH6 MSH2 MLH1
46 extrahepatic bile duct adenoma 9.0 PMS2 MSH6 MSH2 MLH1
47 appendix carcinoid tumor 9.0 PMS2 MSH6 MSH2 MLH1
48 small intestine adenocarcinoma 9.0 PMS2 MSH6 MSH2 MLH1
49 duodenum adenocarcinoma 9.0 PMS2 MSH6 MSH2 MLH1
50 endometrioid ovary carcinoma 9.0 PMS2 MSH6 MSH2 MLH1

Graphical network of the top 20 diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 6:



Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Symptoms & Phenotypes for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 6:

31
# Description HPO Frequency HPO Source Accession
1 hereditary nonpolyposis colorectal carcinoma 31 HP:0006716

Clinical features from OMIM:

614331

GenomeRNAi Phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 6 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2

MGI Mouse Phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 6:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.87 MLH1 MSH2 MSH6 MUTYH PMS2 PTPN13
2 hematopoietic system MP:0005397 9.73 MLH1 MSH2 MSH6 PMS2 PTPN13 TGFBR2
3 homeostasis/metabolism MP:0005376 9.7 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2
4 immune system MP:0005387 9.43 MLH1 MSH2 MSH6 PMS2 PTPN13 TGFBR2
5 neoplasm MP:0002006 9.17 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Search Clinical Trials , NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Genetic tests related to Colorectal Cancer, Hereditary Nonpolyposis, Type 6:

# Genetic test Affiliating Genes
1 Hereditary Nonpolyposis Colorectal Cancer Type 6 29 TGFBR2

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

MalaCards organs/tissues related to Colorectal Cancer, Hereditary Nonpolyposis, Type 6:

40
Colon, Small Intestine, Skin, Ovary, Breast, Uterus, Testes

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Articles related to Colorectal Cancer, Hereditary Nonpolyposis, Type 6:

(show top 50) (show all 61)
# Title Authors PMID Year
1
Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers. 56 6
9927040 1999
2
HNPCC associated with germline mutation in the TGF-beta type II receptor gene. 56 6
9590282 1998
3
Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. 56 6
7761852 1995
4
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
5
Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 6
25711197 2015
6
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 6
25645574 2015
7
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
8
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 6
25452455 2015
9
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer. 6
25003300 2014
10
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. 6
25070057 2014
11
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 6
24493721 2014
12
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 6
24310308 2014
13
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
14
Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. 6
23535968 2013
15
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. 6
23408351 2013
16
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. 6
19120036 2009
17
Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I. 6
19101824 2009
18
Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening. 6
18759827 2008
19
Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors. 6
18772310 2008
20
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 6
18301448 2008
21
The three nucleotide deletion within the 3'untranslated region of MLH1 resulting in gene expression reduction is not a causal alteration in Lynch syndrome. 6
18496770 2008
22
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 6
17312306 2007
23
Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features. 6
16724012 2006
24
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. 6
16285940 2005
25
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 6
15849733 2005
26
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 6
16083711 2005
27
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 6
15731757 2005
28
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 6
15713769 2005
29
hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients. 6
15655560 2005
30
Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer. 6
15571801 2004
31
Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. 6
15256438 2004
32
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 6
15604628 2004
33
Lynch Syndrome 6
20301390 2004
34
Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. 6
14512394 2003
35
Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia. 6
12655568 2003
36
The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. 6
12454801 2002
37
Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation. 6
12414824 2002
38
Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. 6
12362047 2002
39
Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutation. 6
12352241 2002
40
Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain. 6
11920650 2002
41
Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression. 6
11870161 2002
42
Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families. 6
11854906 2001
43
A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families. 6
11585727 2001
44
Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation. 6
11598466 2001
45
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. 6
11524701 2001
46
MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. 6
11245474 2001
47
Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing. 6
11208710 2001
48
Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. 6
10777691 2000
49
A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening. 6
10528862 1999
50
Unbalanced germ-line expression of hMLH1 and hMSH2 alleles in hereditary nonpolyposis colorectal cancer. 6
10446963 1999

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

ClinVar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 6:

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TGFBR2 NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)SNV Pathogenic 12511 rs104893815 3:30732970-30732970 3:30691478-30691478
2 TGFBR2 NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)SNV Pathogenic 12519 rs104893819 3:30729962-30729962 3:30688470-30688470
3 TGFBR2 NM_003242.6(TGFBR2):c.1597_1598TG[4] (p.Ala535fs)short repeat Pathogenic 12501 rs587776769 3:30732982-30732983 3:30691490-30691491
4 TGFBR2 NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)SNV Conflicting interpretations of pathogenicity 12502 rs34833812 3:30713619-30713619 3:30672127-30672127
5 TGFBR2 NM_003242.6(TGFBR2):c.94+16293C>ASNV Conflicting interpretations of pathogenicity 213913 rs138262219 3:30664762-30664762 3:30623270-30623270
6 TGFBR2 NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)SNV Conflicting interpretations of pathogenicity 44651 rs35766612 3:30713834-30713834 3:30672342-30672342
7 TGFBR2 NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)SNV Conflicting interpretations of pathogenicity 374980 rs761991787 3:30713690-30713690 3:30672198-30672198
8 TGFBR2 NM_003242.6(TGFBR2):c.569G>A (p.Arg190His)SNV Uncertain significance 403531 rs780542125 3:30713244-30713244 3:30671752-30671752
9 TGFBR2 NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met)SNV Uncertain significance 408436 rs755967723 3:30713801-30713801 3:30672309-30672309
10 TGFBR2 NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe)SNV Uncertain significance 449834 rs1553630171 3:30713588-30713588 3:30672096-30672096
11 TGFBR2 NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln)SNV Uncertain significance 567942 rs200361387 3:30713613-30713613 3:30672121-30672121
12 TGFBR2 NM_003242.6(TGFBR2):c.413G>A (p.Cys138Tyr)SNV Uncertain significance 626031 rs1559458957 3:30691911-30691911 3:30650419-30650419
13 TGFBR2 NM_003242.6(TGFBR2):c.1682G>C (p.Gly561Ala)SNV Uncertain significance 626183 rs1559473531 3:30733069-30733069 3:30691577-30691577
14 TGFBR2 NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys)SNV Uncertain significance 263867 rs886038960 3:30713882-30713882 3:30672390-30672390

UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 6:

73
# Symbol AA change Variation ID SNP ID
1 TGFBR2 p.Thr315Met VAR_008156 rs34833812

Expression for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Search GEO for disease gene expression data for Colorectal Cancer, Hereditary Nonpolyposis, Type 6.

Pathways for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Pathways related to Colorectal Cancer, Hereditary Nonpolyposis, Type 6 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 PMS2 MUTYH MSH6 MSH2 MLH1
2
Show member pathways
12.52 TGFBR2 MSH6 MSH2 MLH1
3 12.48 TGFBR2 MSH6 MSH2 MLH1
4 12.03 MUTYH MSH6 MSH2 MLH1
5 11.8 TGFBR2 MSH6 MSH2
6 11.7 PMS2 MSH2 MLH1
7 11.67 TGFBR2 MSH6 MSH2 MLH1
8 11.36 MSH6 MSH2 MLH1
9 11.19 MSH6 MSH2
10
Show member pathways
11.15 MSH2 MLH1
11
Show member pathways
11.1 MSH2 MLH1
12
Show member pathways
11 PMS2 PMS1 MSH6 MSH2 MLH1
13 10.72 PMS2 MSH6 MSH2 MLH1

GO Terms for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Cellular components related to Colorectal Cancer, Hereditary Nonpolyposis, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.73 PTPN13 PMS2 MUTYH MSH6 MSH2 MLH1
2 MutSalpha complex GO:0032301 9.16 MSH6 MSH2
3 MutLalpha complex GO:0032389 9.13 PMS2 PMS1 MLH1
4 mismatch repair complex GO:0032300 9.02 PMS2 PMS1 MSH6 MSH2 MLH1

Biological processes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 6 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.8 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
2 response to drug GO:0042493 9.72 TGFBR2 PMS2 PMS1
3 DNA repair GO:0006281 9.63 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.61 MSH6 MSH2 MLH1
5 determination of adult lifespan GO:0008340 9.54 MSH6 MSH2
6 isotype switching GO:0045190 9.54 MSH6 MSH2 MLH1
7 negative regulation of DNA recombination GO:0045910 9.52 MSH6 MSH2
8 positive regulation of isotype switching to IgG isotypes GO:0048304 9.51 MSH2 MLH1
9 positive regulation of helicase activity GO:0051096 9.49 MSH6 MSH2
10 positive regulation of isotype switching to IgA isotypes GO:0048298 9.48 MSH2 MLH1
11 maintenance of DNA repeat elements GO:0043570 9.46 MSH6 MSH2
12 somatic recombination of immunoglobulin gene segments GO:0016447 9.43 MSH6 MSH2 MLH1
13 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.4 MSH2 MLH1
14 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 PMS2 MSH6 MSH2 MLH1
15 mismatch repair GO:0006298 9.1 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1

Molecular functions related to Colorectal Cancer, Hereditary Nonpolyposis, Type 6 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.93 TGFBR2 PMS2 PMS1 MSH6 MSH2 MLH1
2 enzyme binding GO:0019899 9.78 PMS1 MSH6 MSH2 MLH1
3 ATPase activity GO:0016887 9.77 PMS2 PMS1 MSH6 MSH2 MLH1
4 single-stranded DNA binding GO:0003697 9.67 PMS2 MSH2 MLH1
5 damaged DNA binding GO:0003684 9.55 MSH6 MSH2
6 DNA-dependent ATPase activity GO:0008094 9.54 MSH6 MSH2
7 ADP binding GO:0043531 9.52 MSH6 MSH2
8 four-way junction DNA binding GO:0000400 9.51 MSH6 MSH2
9 MutSalpha complex binding GO:0032407 9.5 PMS2 MUTYH MLH1
10 single guanine insertion binding GO:0032142 9.43 MSH6 MSH2
11 MutLalpha complex binding GO:0032405 9.43 MUTYH MSH6 MSH2
12 single thymine insertion binding GO:0032143 9.4 MSH6 MSH2
13 oxidized purine DNA binding GO:0032357 9.33 MUTYH MSH6 MSH2
14 guanine/thymine mispair binding GO:0032137 9.13 MSH6 MSH2 MLH1
15 mismatched DNA binding GO:0030983 9.02 PMS2 PMS1 MSH6 MSH2 MLH1

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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