HNPCC5
MCID: CLR037
MIFTS: 39

Colorectal Cancer, Hereditary Nonpolyposis, Type 5 (HNPCC5)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

MalaCards integrated aliases for Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 5 57 13 73
Hereditary Nonpolyposis Colorectal Cancer Type 5 12 29 6 15
Hnpcc5 57 12 75
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 5 40
Hereditary Non-Polyposis Colorectal Cancer 5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
cancer onset usually in mid-adulthood


HPO:

32
colorectal cancer, hereditary nonpolyposis, type 5:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614350
Disease Ontology 12 DOID:0070272
MedGen 42 C1833477
MeSH 44 D003123
SNOMED-CT via HPO 69 263681008 254764001 254878006
UMLS 73 C1833477

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

UniProtKB/Swiss-Prot : 75 Hereditary non-polyposis colorectal cancer 5: 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 5, also known as hereditary nonpolyposis colorectal cancer type 5, is related to colorectal cancer 5 and gastric leiomyoma. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 5 is MSH6 (MutS Homolog 6), and among its related pathways/superpathways are DNA Double-Strand Break Repair and TCR Signaling (Qiagen). Affiliated tissues include skin, colon and breast, and related phenotypes are endometrial carcinoma and hereditary nonpolyposis colorectal carcinoma

Disease Ontology : 12 A Lynch syndrome that has material basis in heterozygous mutation in the MSH6 gene on chromosome 2p16.

OMIM : 57 Hereditary nonpolyposis colorectal cancer type 5 is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Castellsague et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 (120435). (614350)

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Diseases in the Colorectal Cancer, Hereditary Nonpolyposis, Type 6 family:

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

Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 colorectal cancer 5 10.0 MLH1 MSH6
2 gastric leiomyoma 10.0 MLH1 MSH6
3 adenoma 10.0 MLH1 MSH2
4 hereditary breast ovarian cancer syndrome 9.9 MLH1 MSH6
5 colorectal cancer, hereditary nonpolyposis, type 7 9.9 MLH1 MSH2
6 lower lip cancer 9.9 MLH1 MSH2
7 anal fistula 9.9 MLH1 MSH2
8 melanocytic nevus syndrome, congenital 9.9 MLH1 MSH2
9 childhood kidney cell carcinoma 9.9 MLH1 MSH2
10 colorectal cancer, hereditary nonpolyposis, type 4 9.9 MLH1 MSH2
11 intestinal benign neoplasm 9.9 MLH1 MSH2
12 keratoacanthoma 9.9 MLH1 MSH2
13 colon adenocarcinoma 9.9 MLH1 MSH6
14 familial colorectal cancer 9.9 MLH1 MSH2
15 attenuated familial adenomatous polyposis 9.9 MSH2 MSH6
16 colorectal adenoma 9.9 MLH1 MSH2
17 legius syndrome 9.9 MSH2 MSH6
18 rectal neoplasm 9.9 MLH1 MSH2
19 gastrointestinal system disease 9.8 MLH1 MSH2
20 ulcerative colitis 9.8 MLH1 MSH2
21 adamantinoma of long bones 9.8 MLH1 MSH2
22 appendix carcinoid tumor 9.7 MLH1 MSH2 MSH6
23 adenosquamous colon carcinoma 9.7 MLH1 MSH2 MSH6
24 sebaceous adenoma 9.7 MLH1 MSH2 MSH6
25 cecum adenocarcinoma 9.7 MLH1 MSH2 MSH6
26 lynch syndrome i 9.7 MLH1 MSH2 MSH6
27 lynch syndrome 9.7 MLH1 MSH2 MSH6
28 sebaceous adenocarcinoma 9.7 MLH1 MSH2 MSH6
29 muir-torre syndrome 9.7 MLH1 MSH2 MSH6
30 rhabdomyosarcoma 9.7 MSH2 MSH6
31 skin benign neoplasm 9.7 MLH1 MSH2 MSH6
32 small intestine cancer 9.7 MLH1 MSH2 MSH6
33 mismatch repair cancer syndrome 9.7 MLH1 MSH2 MSH6
34 uterine anomalies 9.7 MLH1 MSH2 MSH6
35 colonic disease 9.7 MLH1 MSH2 MSH6
36 colorectal adenocarcinoma 9.7 MLH1 MSH2 MSH6
37 female reproductive system disease 9.7 MLH1 MSH2 MSH6
38 autosomal genetic disease 9.7 MLH1 MSH2 MSH6
39 intestinal disease 9.7 MLH1 MSH2 MSH6
40 gastrointestinal system cancer 9.7 MLH1 MSH2 MSH6
41 autosomal dominant disease 9.7 MLH1 MSH2 MSH6
42 familial adenomatous polyposis 9.7 MLH1 MSH2 MSH6
43 large intestine cancer 9.7 MLH1 MSH2 MSH6
44 endometrial cancer 9.7 MLH1 MSH2 MSH6
45 brain cancer 9.6 MSH2 MSH6
46 ovarian cancer 9.6 MLH1 MSH2 MSH6

Graphical network of the top 20 diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5:



Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Symptoms & Phenotypes for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
increased risk of colorectal cancer
increased risk of endometrial cancer
increased risk of cancer

Laboratory Abnormalities:
tumor cells show microsatellite instability


Clinical features from OMIM:

614350

Human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

32
# Description HPO Frequency HPO Source Accession
1 endometrial carcinoma 32 HP:0012114
2 hereditary nonpolyposis colorectal carcinoma 32 HP:0006716

GenomeRNAi Phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5 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 8.8 MLH1 MSH2 MSH6

MGI Mouse Phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.13 MLH1 MSH2 MSH6
2 neoplasm MP:0002006 8.8 MLH1 MSH2 MSH6

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Search Clinical Trials , NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Genetic tests related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

# Genetic test Affiliating Genes
1 Hereditary Nonpolyposis Colorectal Cancer Type 5 29 MSH6

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

MalaCards organs/tissues related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

41
Skin, Colon, Breast, Ovary, Small Intestine, Uterus, Bone

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

75
# Symbol AA change Variation ID SNP ID
1 MSH6 p.Gly566Arg VAR_012959 rs63749973
2 MSH6 p.Arg772Trp VAR_043958 rs63750138
3 MSH6 p.Glu1163Val VAR_043969 rs63750252
4 MSH6 p.Glu1193Lys VAR_043970 rs63751328

ClinVar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

6 (show top 50) (show all 664)
# Gene Variation Type Significance SNP ID Assembly Location
1 MSH6 MSH6, 1-BP DEL, LEU222TER deletion Pathogenic
2 MSH6 MSH6, 1-BP DEL, 594T deletion Pathogenic
3 MSH6 NM_000179.2(MSH6): c.2633T> C (p.Val878Ala) single nucleotide variant Benign rs2020912 GRCh37 Chromosome 2, 48027755: 48027755
4 MSH6 NM_000179.2(MSH6): c.2633T> C (p.Val878Ala) single nucleotide variant Benign rs2020912 GRCh38 Chromosome 2, 47800616: 47800616
5 MSH6 NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs) duplication Pathogenic rs63750955 GRCh38 Chromosome 2, 47798634: 47798634
6 MSH6 NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs) duplication Pathogenic rs63750955 GRCh37 Chromosome 2, 48025773: 48025773
7 MSH6 NM_000179.2(MSH6): c.1602delC (p.Tyr535Thrfs) deletion Pathogenic rs63751234 GRCh37 Chromosome 2, 48026724: 48026724
8 MSH6 NM_000179.2(MSH6): c.1602delC (p.Tyr535Thrfs) deletion Pathogenic rs63751234 GRCh38 Chromosome 2, 47799585: 47799585
9 MSH6 MSH6, 13-KB DEL deletion Pathogenic
10 MSH6 NM_000179.2(MSH6): c.1573_3439-429dupinsTAT duplication Pathogenic GRCh38 Chromosome 2, 47799556: 47804481
11 MSH6 NM_000179.2(MSH6): c.1573_3439-429dupinsTAT duplication Pathogenic GRCh37 Chromosome 2, 48026695: 48031620
12 MSH6 MSH6, TRP1024TER undetermined variant Pathogenic
13 MSH6 NM_000179.2(MSH6): c.116G> A (p.Gly39Glu) single nucleotide variant Benign rs1042821 GRCh37 Chromosome 2, 48010488: 48010488
14 MSH6 NM_000179.2(MSH6): c.116G> A (p.Gly39Glu) single nucleotide variant Benign rs1042821 GRCh38 Chromosome 2, 47783349: 47783349
15 MSH6 NM_000179.2(MSH6): c.1186C> G (p.Leu396Val) single nucleotide variant Benign rs2020908 GRCh37 Chromosome 2, 48026308: 48026308
16 MSH6 NM_000179.2(MSH6): c.1186C> G (p.Leu396Val) single nucleotide variant Benign rs2020908 GRCh38 Chromosome 2, 47799169: 47799169
17 MSH6 NM_000179.2(MSH6): c.2253T> C (p.Asn751=) single nucleotide variant Benign rs2020913 GRCh37 Chromosome 2, 48027375: 48027375
18 MSH6 NM_000179.2(MSH6): c.2253T> C (p.Asn751=) single nucleotide variant Benign rs2020913 GRCh38 Chromosome 2, 47800236: 47800236
19 MSH6 NM_000179.2(MSH6): c.276A> G (p.Pro92=) single nucleotide variant Benign rs1800932 GRCh37 Chromosome 2, 48018081: 48018081
20 MSH6 NM_000179.2(MSH6): c.276A> G (p.Pro92=) single nucleotide variant Benign rs1800932 GRCh38 Chromosome 2, 47790942: 47790942
21 MSH6 NM_000179.2(MSH6): c.3306T> A (p.Thr1102=) single nucleotide variant Benign rs2020910 GRCh37 Chromosome 2, 48030692: 48030692
22 MSH6 NM_000179.2(MSH6): c.3306T> A (p.Thr1102=) single nucleotide variant Benign rs2020910 GRCh38 Chromosome 2, 47803553: 47803553
23 MSH6 NM_000179.2(MSH6): c.3699_3702delAGAA (p.Lys1233Asnfs) deletion Pathogenic rs193922343 GRCh37 Chromosome 2, 48033395: 48033398
24 MSH6 NM_000179.2(MSH6): c.3699_3702delAGAA (p.Lys1233Asnfs) deletion Pathogenic rs193922343 GRCh38 Chromosome 2, 47806256: 47806259
25 MSH6 NM_000179.2(MSH6): c.3802-40C> G single nucleotide variant Benign rs3136367 GRCh37 Chromosome 2, 48033551: 48033551
26 MSH6 NM_000179.2(MSH6): c.3802-40C> G single nucleotide variant Benign rs3136367 GRCh38 Chromosome 2, 47806412: 47806412
27 MSH6 NM_000179.2(MSH6): c.3852G> T (p.Thr1284=) single nucleotide variant Benign/Likely benign rs2229018 GRCh37 Chromosome 2, 48033641: 48033641
28 MSH6 NM_000179.2(MSH6): c.3852G> T (p.Thr1284=) single nucleotide variant Benign/Likely benign rs2229018 GRCh38 Chromosome 2, 47806502: 47806502
29 MSH6 NM_000179.2(MSH6): c.38A> C (p.Lys13Thr) single nucleotide variant Uncertain significance rs41294988 GRCh37 Chromosome 2, 48010410: 48010410
30 MSH6 NM_000179.2(MSH6): c.38A> C (p.Lys13Thr) single nucleotide variant Uncertain significance rs41294988 GRCh38 Chromosome 2, 47783271: 47783271
31 MSH6 NM_000179.2(MSH6): c.540T> C (p.Asp180=) single nucleotide variant Benign rs1800935 GRCh37 Chromosome 2, 48023115: 48023115
32 MSH6 NM_000179.2(MSH6): c.540T> C (p.Asp180=) single nucleotide variant Benign rs1800935 GRCh38 Chromosome 2, 47795976: 47795976
33 MSH6 NM_000179.2(MSH6): c.642C> T (p.Tyr214=) single nucleotide variant Benign rs1800937 GRCh37 Chromosome 2, 48025764: 48025764
34 MSH6 NM_000179.2(MSH6): c.642C> T (p.Tyr214=) single nucleotide variant Benign rs1800937 GRCh38 Chromosome 2, 47798625: 47798625
35 MSH6 NM_000179.2(MSH6): c.1526T> C (p.Val509Ala) single nucleotide variant Likely benign rs63751005 GRCh37 Chromosome 2, 48026648: 48026648
36 MSH6 NM_000179.2(MSH6): c.1526T> C (p.Val509Ala) single nucleotide variant Likely benign rs63751005 GRCh38 Chromosome 2, 47799509: 47799509
37 MSH6 NM_000179.2(MSH6): c.1867C> G (p.Pro623Ala) single nucleotide variant Uncertain significance rs3136334 GRCh37 Chromosome 2, 48026989: 48026989
38 MSH6 NM_000179.2(MSH6): c.1867C> G (p.Pro623Ala) single nucleotide variant Uncertain significance rs3136334 GRCh38 Chromosome 2, 47799850: 47799850
39 MSH6 NM_000179.2(MSH6): c.2667G> T (p.Gln889His) single nucleotide variant Conflicting interpretations of pathogenicity rs149945495 GRCh37 Chromosome 2, 48027789: 48027789
40 MSH6 NM_000179.2(MSH6): c.2667G> T (p.Gln889His) single nucleotide variant Conflicting interpretations of pathogenicity rs149945495 GRCh38 Chromosome 2, 47800650: 47800650
41 MSH6 NM_000179.2(MSH6): c.3217C> T (p.Pro1073Ser) single nucleotide variant Uncertain significance rs142254875 GRCh37 Chromosome 2, 48030603: 48030603
42 MSH6 NM_000179.2(MSH6): c.3217C> T (p.Pro1073Ser) single nucleotide variant Uncertain significance rs142254875 GRCh38 Chromosome 2, 47803464: 47803464
43 MSH6 NM_000179.2(MSH6): c.3833C> G (p.Pro1278Arg) single nucleotide variant Uncertain significance rs201191389 GRCh37 Chromosome 2, 48033622: 48033622
44 MSH6 NM_000179.2(MSH6): c.3833C> G (p.Pro1278Arg) single nucleotide variant Uncertain significance rs201191389 GRCh38 Chromosome 2, 47806483: 47806483
45 MSH6 NM_000179.2(MSH6): c.431G> T (p.Ser144Ile) single nucleotide variant Benign rs3211299 GRCh37 Chromosome 2, 48018236: 48018236
46 MSH6 NM_000179.2(MSH6): c.431G> T (p.Ser144Ile) single nucleotide variant Benign rs3211299 GRCh38 Chromosome 2, 47791097: 47791097
47 MSH6 NM_000179.2(MSH6): c.3246G> T (p.Pro1082=) single nucleotide variant Benign rs3136351 GRCh37 Chromosome 2, 48030632: 48030632
48 MSH6 NM_000179.2(MSH6): c.3246G> T (p.Pro1082=) single nucleotide variant Benign rs3136351 GRCh38 Chromosome 2, 47803493: 47803493
49 MSH6 NM_000179.2(MSH6): c.3438+14A> T single nucleotide variant Benign rs2020911 GRCh37 Chromosome 2, 48030838: 48030838
50 MSH6 NM_000179.2(MSH6): c.3438+14A> T single nucleotide variant Benign rs2020911 GRCh38 Chromosome 2, 47803699: 47803699

Expression for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Search GEO for disease gene expression data for Colorectal Cancer, Hereditary Nonpolyposis, Type 5.

Pathways for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Pathways related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5 according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.72 MLH1 MSH2 MSH6
2
Show member pathways
12.46 MLH1 MSH2 MSH6
3
Show member pathways
12.42 MLH1 MSH2 MSH6
4 12.33 MLH1 MSH2 MSH6
5 12.02 MLH1 MSH2 MSH6
6 11.75 MSH2 MSH6
7 11.67 MLH1 MSH2
8 11.65 MLH1 MSH2 MSH6
9
Show member pathways
11.44 MSH2 MSH6
10
Show member pathways
11.32 MLH1 MSH2 MSH6
11 11.14 MSH2 MSH6
12
Show member pathways
11.1 MLH1 MSH2
13 11.1 MLH1 MSH2 MSH6
14
Show member pathways
11.01 MLH1 MSH2
15 11 MLH1 MSH2 MSH6
16 10.26 MLH1 MSH2 MSH6

GO Terms for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Cellular components related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MutSalpha complex GO:0032301 8.96 MSH2 MSH6
2 mismatch repair complex GO:0032300 8.8 MLH1 MSH2 MSH6

Biological processes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.74 MLH1 MSH2 MSH6
2 DNA repair GO:0006281 9.73 MLH1 MSH2 MSH6
3 interstrand cross-link repair GO:0036297 9.58 MSH2 MSH6
4 negative regulation of DNA recombination GO:0045910 9.55 MSH2 MSH6
5 determination of adult lifespan GO:0008340 9.54 MSH2 MSH6
6 positive regulation of isotype switching to IgG isotypes GO:0048304 9.52 MLH1 MSH2
7 positive regulation of helicase activity GO:0051096 9.51 MSH2 MSH6
8 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.5 MLH1 MSH2 MSH6
9 pyrimidine dimer repair GO:0006290 9.49 MSH2 MSH6
10 replication fork arrest GO:0043111 9.48 MSH2 MSH6
11 maintenance of DNA repeat elements GO:0043570 9.46 MSH2 MSH6
12 positive regulation of isotype switching to IgA isotypes GO:0048298 9.43 MLH1 MSH2
13 mismatch repair GO:0006298 9.43 MLH1 MSH2 MSH6
14 meiotic mismatch repair GO:0000710 9.4 MSH2 MSH6
15 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.37 MLH1 MSH2
16 somatic hypermutation of immunoglobulin genes GO:0016446 9.33 MLH1 MSH2 MSH6
17 isotype switching GO:0045190 9.13 MLH1 MSH2 MSH6
18 somatic recombination of immunoglobulin gene segments GO:0016447 8.8 MLH1 MSH2 MSH6

Molecular functions related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.74 MLH1 MSH2 MSH6
2 chromatin binding GO:0003682 9.65 MLH1 MSH2 MSH6
3 enzyme binding GO:0019899 9.63 MLH1 MSH2 MSH6
4 ATPase activity GO:0016887 9.58 MLH1 MSH2 MSH6
5 magnesium ion binding GO:0000287 9.56 MSH2 MSH6
6 double-stranded DNA binding GO:0003690 9.55 MSH2 MSH6
7 single-stranded DNA binding GO:0003697 9.54 MLH1 MSH2
8 damaged DNA binding GO:0003684 9.52 MSH2 MSH6
9 DNA-dependent ATPase activity GO:0008094 9.51 MSH2 MSH6
10 ADP binding GO:0043531 9.49 MSH2 MSH6
11 four-way junction DNA binding GO:0000400 9.43 MSH2 MSH6
12 MutLalpha complex binding GO:0032405 9.37 MSH2 MSH6
13 oxidized purine DNA binding GO:0032357 9.32 MSH2 MSH6
14 single thymine insertion binding GO:0032143 9.26 MSH2 MSH6
15 single guanine insertion binding GO:0032142 9.16 MSH2 MSH6
16 mismatched DNA binding GO:0030983 9.13 MLH1 MSH2 MSH6
17 guanine/thymine mispair binding GO:0032137 8.8 MLH1 MSH2 MSH6

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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