HNPCC5
MCID: CLR037
MIFTS: 38

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 58 13 74
Hereditary Nonpolyposis Colorectal Cancer Type 5 12 30 6 15
Hnpcc5 58 12 76
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 5 41
Hereditary Non-Polyposis Colorectal Cancer 5 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
cancer onset usually in mid-adulthood


HPO:

33
colorectal cancer, hereditary nonpolyposis, type 5:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070272
OMIM 58 614350
MeSH 45 D003123
MedGen 43 C1833477
SNOMED-CT via HPO 70 254764001 254878006 263681008
UMLS 74 C1833477

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

UniProtKB/Swiss-Prot : 76 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 : 58 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 9.9 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 colon adenocarcinoma 9.9 MLH1 MSH6
11 colorectal cancer, hereditary nonpolyposis, type 4 9.8 MLH1 MSH2
12 intestinal benign neoplasm 9.8 MLH1 MSH2
13 keratoacanthoma 9.8 MLH1 MSH2
14 familial colorectal cancer 9.8 MLH1 MSH2
15 attenuated familial adenomatous polyposis 9.8 MSH2 MSH6
16 colorectal adenoma 9.8 MLH1 MSH2
17 legius syndrome 9.8 MSH2 MSH6
18 gastrointestinal system disease 9.8 MLH1 MSH2
19 ulcerative colitis 9.8 MLH1 MSH2
20 adamantinoma of long bones 9.7 MLH1 MSH2
21 rhabdomyosarcoma 9.6 MSH2 MSH6
22 hematologic cancer 9.6 MLH1 MSH2
23 appendix carcinoid tumor 9.6 MLH1 MSH2 MSH6
24 adenosquamous colon carcinoma 9.6 MLH1 MSH2 MSH6
25 sebaceous adenoma 9.6 MLH1 MSH2 MSH6
26 cecum adenocarcinoma 9.6 MLH1 MSH2 MSH6
27 lynch syndrome i 9.6 MLH1 MSH2 MSH6
28 lynch syndrome 9.6 MLH1 MSH2 MSH6
29 sebaceous adenocarcinoma 9.6 MLH1 MSH2 MSH6
30 muir-torre syndrome 9.6 MLH1 MSH2 MSH6
31 skin benign neoplasm 9.6 MLH1 MSH2 MSH6
32 small intestine cancer 9.6 MLH1 MSH2 MSH6
33 mismatch repair cancer syndrome 9.5 MLH1 MSH2 MSH6
34 uterine anomalies 9.5 MLH1 MSH2 MSH6
35 colonic disease 9.5 MLH1 MSH2 MSH6
36 colorectal adenocarcinoma 9.5 MLH1 MSH2 MSH6
37 female reproductive system disease 9.5 MLH1 MSH2 MSH6
38 autosomal genetic disease 9.5 MLH1 MSH2 MSH6
39 intestinal disease 9.5 MLH1 MSH2 MSH6
40 gastrointestinal system cancer 9.5 MLH1 MSH2 MSH6
41 autosomal dominant disease 9.5 MLH1 MSH2 MSH6
42 familial adenomatous polyposis 9.5 MLH1 MSH2 MSH6
43 large intestine cancer 9.5 MLH1 MSH2 MSH6
44 endometrial cancer 9.5 MLH1 MSH2 MSH6
45 brain cancer 9.4 MSH2 MSH6
46 ovarian cancer 9.4 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

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

33
# Description HPO Frequency HPO Source Accession
1 endometrial carcinoma 33 HP:0012114
2 hereditary nonpolyposis colorectal carcinoma 33 HP:0006716

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# 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:

47
# 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 30 MSH6

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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

42
Skin, Colon, Breast, Ovary, Uterus, Small Intestine

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:

76
# 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 660)
# Gene Variation Type Significance SNP ID Assembly Location
1 MSH6 NM_000179.2(MSH6): c.321T> C (p.Pro107=) single nucleotide variant Benign/Likely benign rs730881823 GRCh38 Chromosome 2, 47790987: 47790987
2 MSH6 NM_000179.2(MSH6): c.321T> C (p.Pro107=) single nucleotide variant Benign/Likely benign rs730881823 GRCh37 Chromosome 2, 48018126: 48018126
3 MSH6 NM_000179.2(MSH6): c.364G> A (p.Glu122Lys) single nucleotide variant Uncertain significance rs143036974 GRCh38 Chromosome 2, 47791030: 47791030
4 MSH6 NM_000179.2(MSH6): c.364G> A (p.Glu122Lys) single nucleotide variant Uncertain significance rs143036974 GRCh37 Chromosome 2, 48018169: 48018169
5 MSH6 NM_000179.2(MSH6): c.831A> C (p.Glu277Asp) single nucleotide variant Uncertain significance rs374486449 GRCh38 Chromosome 2, 47798814: 47798814
6 MSH6 NM_000179.2(MSH6): c.831A> C (p.Glu277Asp) single nucleotide variant Uncertain significance rs374486449 GRCh37 Chromosome 2, 48025953: 48025953
7 MSH6 NM_000179.2(MSH6): c.1050C> T (p.Ala350=) single nucleotide variant Conflicting interpretations of pathogenicity rs730881802 GRCh38 Chromosome 2, 47799033: 47799033
8 MSH6 NM_000179.2(MSH6): c.1050C> T (p.Ala350=) single nucleotide variant Conflicting interpretations of pathogenicity rs730881802 GRCh37 Chromosome 2, 48026172: 48026172
9 MSH6 NM_000179.2(MSH6): c.1061G> T (p.Gly354Val) single nucleotide variant Uncertain significance rs730881788 GRCh38 Chromosome 2, 47799044: 47799044
10 MSH6 NM_000179.2(MSH6): c.1061G> T (p.Gly354Val) single nucleotide variant Uncertain significance rs730881788 GRCh37 Chromosome 2, 48026183: 48026183
11 MSH6 NM_000179.2(MSH6): c.1190A> G (p.Tyr397Cys) single nucleotide variant Uncertain significance rs63750065 GRCh38 Chromosome 2, 47799173: 47799173
12 MSH6 NM_000179.2(MSH6): c.1190A> G (p.Tyr397Cys) single nucleotide variant Uncertain significance rs63750065 GRCh37 Chromosome 2, 48026312: 48026312
13 MSH6 NM_000179.2(MSH6): c.1805C> G (p.Ser602Ter) single nucleotide variant Pathogenic rs730881816 GRCh38 Chromosome 2, 47799788: 47799788
14 MSH6 NM_000179.2(MSH6): c.1805C> G (p.Ser602Ter) single nucleotide variant Pathogenic rs730881816 GRCh37 Chromosome 2, 48026927: 48026927
15 MSH6 NM_000179.2(MSH6): c.1844G> C (p.Cys615Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs730881793 GRCh38 Chromosome 2, 47799827: 47799827
16 MSH6 NM_000179.2(MSH6): c.1844G> C (p.Cys615Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs730881793 GRCh37 Chromosome 2, 48026966: 48026966
17 MSH6 NM_000179.2(MSH6): c.1869C> T (p.Pro623=) single nucleotide variant Benign/Likely benign rs141242295 GRCh38 Chromosome 2, 47799852: 47799852
18 MSH6 NM_000179.2(MSH6): c.1869C> T (p.Pro623=) single nucleotide variant Benign/Likely benign rs141242295 GRCh37 Chromosome 2, 48026991: 48026991
19 MSH6 NM_000179.2(MSH6): c.1999G> C (p.Asp667His) single nucleotide variant Uncertain significance rs151086192 GRCh38 Chromosome 2, 47799982: 47799982
20 MSH6 NM_000179.2(MSH6): c.1999G> C (p.Asp667His) single nucleotide variant Uncertain significance rs151086192 GRCh37 Chromosome 2, 48027121: 48027121
21 MSH6 NM_000179.2(MSH6): c.2249C> A (p.Thr750Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs730881817 GRCh38 Chromosome 2, 47800232: 47800232
22 MSH6 NM_000179.2(MSH6): c.2249C> A (p.Thr750Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs730881817 GRCh37 Chromosome 2, 48027371: 48027371
23 MSH6 NM_000179.2(MSH6): c.2341C> A (p.Pro781Thr) single nucleotide variant Uncertain significance rs587779235 GRCh38 Chromosome 2, 47800324: 47800324
24 MSH6 NM_000179.2(MSH6): c.2341C> A (p.Pro781Thr) single nucleotide variant Uncertain significance rs587779235 GRCh37 Chromosome 2, 48027463: 48027463
25 MSH6 NM_000179.2(MSH6): c.2417C> G (p.Ser806Cys) single nucleotide variant Uncertain significance rs372990379 GRCh38 Chromosome 2, 47800400: 47800400
26 MSH6 NM_000179.2(MSH6): c.2417C> G (p.Ser806Cys) single nucleotide variant Uncertain significance rs372990379 GRCh37 Chromosome 2, 48027539: 48027539
27 MSH6 NM_000179.2(MSH6): c.2832_2833delAA (p.Ile944Metfs) deletion Pathogenic rs730881827 GRCh38 Chromosome 2, 47800815: 47800816
28 MSH6 NM_000179.2(MSH6): c.2832_2833delAA (p.Ile944Metfs) deletion Pathogenic rs730881827 GRCh37 Chromosome 2, 48027954: 48027955
29 MSH6 NM_000179.2(MSH6): c.2925C> T (p.Asn975=) single nucleotide variant Benign/Likely benign rs139026662 GRCh38 Chromosome 2, 47800908: 47800908
30 MSH6 NM_000179.2(MSH6): c.2925C> T (p.Asn975=) single nucleotide variant Benign/Likely benign rs139026662 GRCh37 Chromosome 2, 48028047: 48028047
31 MSH6 NM_000179.2(MSH6): c.2992T> A (p.Ser998Thr) single nucleotide variant Uncertain significance rs730881800 GRCh38 Chromosome 2, 47800975: 47800975
32 MSH6 NM_000179.2(MSH6): c.2992T> A (p.Ser998Thr) single nucleotide variant Uncertain significance rs730881800 GRCh37 Chromosome 2, 48028114: 48028114
33 MSH6 NM_000179.2(MSH6): c.3071G> A (p.Arg1024Gln) single nucleotide variant Uncertain significance rs372705506 GRCh38 Chromosome 2, 47801054: 47801054
34 MSH6 NM_000179.2(MSH6): c.3071G> A (p.Arg1024Gln) single nucleotide variant Uncertain significance rs372705506 GRCh37 Chromosome 2, 48028193: 48028193
35 MSH6 NM_000179.2(MSH6): c.3200G> C (p.Ser1067Thr) single nucleotide variant Uncertain significance rs730881803 GRCh38 Chromosome 2, 47803447: 47803447
36 MSH6 NM_000179.2(MSH6): c.3200G> C (p.Ser1067Thr) single nucleotide variant Uncertain significance rs730881803 GRCh37 Chromosome 2, 48030586: 48030586
37 MSH6 NM_000179.2(MSH6): c.3439-10T> A single nucleotide variant Conflicting interpretations of pathogenicity rs730881819 GRCh38 Chromosome 2, 47804900: 47804900
38 MSH6 NM_000179.2(MSH6): c.3439-10T> A single nucleotide variant Conflicting interpretations of pathogenicity rs730881819 GRCh37 Chromosome 2, 48032039: 48032039
39 MSH6 NM_000179.2(MSH6): c.3686A> G (p.Asn1229Ser) single nucleotide variant Uncertain significance rs730881807 GRCh38 Chromosome 2, 47806243: 47806243
40 MSH6 NM_000179.2(MSH6): c.3686A> G (p.Asn1229Ser) single nucleotide variant Uncertain significance rs730881807 GRCh37 Chromosome 2, 48033382: 48033382
41 MSH6 NM_000179.2(MSH6): c.3960A> G (p.Ala1320=) single nucleotide variant Benign/Likely benign rs373425206 GRCh38 Chromosome 2, 47806610: 47806610
42 MSH6 NM_000179.2(MSH6): c.3960A> G (p.Ala1320=) single nucleotide variant Benign/Likely benign rs373425206 GRCh37 Chromosome 2, 48033749: 48033749
43 MSH6 NM_000179.2(MSH6): c.4001+12_4001+15dupACTA duplication Benign/Likely benign rs267608132 GRCh38 Chromosome 2, 47806663: 47806666
44 MSH6 NM_000179.2(MSH6): c.4001+12_4001+15dupACTA duplication Benign/Likely benign rs267608132 GRCh37 Chromosome 2, 48033802: 48033805
45 MSH6 NM_000179.2(MSH6): c.4039G> C (p.Ala1347Pro) single nucleotide variant Uncertain significance rs730881809 GRCh38 Chromosome 2, 47806816: 47806816
46 MSH6 NM_000179.2(MSH6): c.4039G> C (p.Ala1347Pro) single nucleotide variant Uncertain significance rs730881809 GRCh37 Chromosome 2, 48033955: 48033955
47 MSH6 NM_000179.2(MSH6): c.4068G> C (p.Leu1356Phe) single nucleotide variant Uncertain significance rs192740549 GRCh38 Chromosome 2, 47806845: 47806845
48 MSH6 NM_000179.2(MSH6): c.4068G> C (p.Leu1356Phe) single nucleotide variant Uncertain significance rs192740549 GRCh37 Chromosome 2, 48033984: 48033984
49 MSH6 NM_000179.2(MSH6): c.4001+10dupT duplication Likely benign rs730882138 GRCh38 Chromosome 2, 47806661: 47806661
50 MSH6 NM_000179.2(MSH6): c.4001+10dupT duplication Likely benign rs730882138 GRCh37 Chromosome 2, 48033800: 48033800

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 negative regulation of DNA recombination GO:0045910 9.55 MSH2 MSH6
4 determination of adult lifespan GO:0008340 9.54 MSH2 MSH6
5 positive regulation of isotype switching to IgG isotypes GO:0048304 9.52 MLH1 MSH2
6 positive regulation of helicase activity GO:0051096 9.51 MSH2 MSH6
7 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.5 MLH1 MSH2 MSH6
8 maintenance of DNA repeat elements GO:0043570 9.46 MSH2 MSH6
9 positive regulation of isotype switching to IgA isotypes GO:0048298 9.43 MLH1 MSH2
10 mismatch repair GO:0006298 9.43 MLH1 MSH2 MSH6
11 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.37 MLH1 MSH2
12 somatic hypermutation of immunoglobulin genes GO:0016446 9.33 MLH1 MSH2 MSH6
13 interstrand cross-link repair GO:0036297 9.27 MSH6
14 pyrimidine dimer repair GO:0006290 9.19 MSH6
15 replication fork arrest GO:0043111 9.18 MSH6
16 isotype switching GO:0045190 9.13 MLH1 MSH2 MSH6
17 meiotic mismatch repair GO:0000710 9.1 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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