MCID: CLR085
MIFTS: 32

Colorectal Cancer 1

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases

Aliases & Classifications for Colorectal Cancer 1

MalaCards integrated aliases for Colorectal Cancer 1:

Name: Colorectal Cancer 1 53 71 28
Colorectal Cancer, Susceptibility to, 1 53 13
Crcs1 53 71
Colorectal Cancer, Susceptibility to, on Chromosome 9 53
Susceptibility to Colorectal Cancer on Chromosome 9 71
Colorectal Adenoma and Cancer, Susceptibility to 53
Susceptibility to Colorectal Adenoma and Cancer 71
Colorectal Cancer on Chromosome 9 53
Colorectal Adenoma and Cancer 53

Classifications:



External Ids:

OMIM 53 608812
MedGen 39 C1837315
MeSH 41 D015179

Summaries for Colorectal Cancer 1

UniProtKB/Swiss-Prot : 71 Colorectal cancer 1: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

MalaCards based summary : Colorectal Cancer 1, also known as colorectal cancer, susceptibility to, 1, is related to lynch syndrome i and colorectal adenoma. An important gene associated with Colorectal Cancer 1 is GALNT12 (Polypeptide N-Acetylgalactosaminyltransferase 12), and among its related pathways/superpathways are Metabolism of proteins and HIV Life Cycle. Affiliated tissues include colon and appendix.

Description from OMIM: 608812

Related Diseases for Colorectal Cancer 1

Diseases in the Colorectal Cancer family:

Colorectal Cancer 1 Colorectal Cancer 2
Colorectal Cancer 3 Colorectal Cancer 5
Colorectal Cancer 6 Colorectal Cancer 7
Colorectal Cancer 8 Colorectal Cancer 9
Colorectal Cancer 10 Colorectal Cancer 11
Colorectal Cancer 12 Familial Colorectal Cancer
Familial Colorectal Cancer Type X

Diseases related to Colorectal Cancer 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 lynch syndrome i 11.6
2 colorectal adenoma 10.5
3 adenoma 10.5
4 small intestine cancer 10.1 MSH2 MUC2
5 intestinal benign neoplasm 10.1 MSH2 MUC2
6 colorectal adenocarcinoma 10.1 MSH2 MUC2
7 biliary papillomatosis 10.1 MUC17 MUC2
8 gastrointestinal system cancer 10.0 MSH2 MUC2
9 cap polyposis 10.0 MUC2 MUC4
10 mucinous tubular and spindle renal cell carcinoma 10.0 MUC2 MUC4
11 lynch syndrome 10.0 MSH2 MUC2
12 biliary tract neoplasm 10.0 MUC2 MUC4
13 cystadenoma 9.9 MUC2 MUC4
14 colorectal cancer 9.9
15 bile duct carcinoma 9.9 MUC2 MUC4
16 pancreas adenocarcinoma 9.9 MUC2 MUC4
17 mucoepidermoid carcinoma 9.9 MUC2 MUC4
18 ulcerative colitis 9.8 MSH2 MUC2
19 intrahepatic cholangiocarcinoma 9.8 MUC2 MUC4
20 colloid carcinoma of the pancreas 9.8 MUC2 MUC5B
21 pancreatic mucinous cystadenoma 9.8 MUC2 MUC5B
22 insulin-like growth factor i 9.8
23 malaria, mild 9.8
24 otitis media 9.7 MUC2 MUC5B
25 cholangiocarcinoma 9.7 MUC2 MUC4
26 colitis 9.7 MSH2 MUC2
27 bile duct mucoepidermoid carcinoma 9.4 MUC2 MUC4 MUC5B
28 chronic ethmoiditis 9.4 MUC2 MUC4 MUC5B
29 ethmoid sinusitis 9.4 MUC2 MUC4 MUC5B
30 tn polyagglutination syndrome 8.7 MUC13 MUC17 MUC2 MUC4 MUC5B

Graphical network of the top 20 diseases related to Colorectal Cancer 1:



Diseases related to Colorectal Cancer 1

Symptoms & Phenotypes for Colorectal Cancer 1

Clinical features from OMIM:

608812

Drugs & Therapeutics for Colorectal Cancer 1

Search Clinical Trials , NIH Clinical Center for Colorectal Cancer 1

Genetic Tests for Colorectal Cancer 1

Genetic tests related to Colorectal Cancer 1:

# Genetic test Affiliating Genes
1 Colorectal Cancer 1 28 GALNT12

Anatomical Context for Colorectal Cancer 1

MalaCards organs/tissues related to Colorectal Cancer 1:

38
Colon, Appendix

Publications for Colorectal Cancer 1

Articles related to Colorectal Cancer 1:

# Title Authors Year
1
appendix 4: Metastatic colorectal cancer (1): eUpdate published online September 2016 (www.esmo.org/Guidelines/Gastrointestinal-Cancers). ( 27664252 )
2016
2
Prophylaxis for Venous Thromboembolism After Laparoscopic Surgery for Colorectal Cancer: 1 Week or 4 Week? ( 24887974 )
2014
3
Quality of life in patients with colorectal cancer 1 year after diagnosis compared with the general population: a population-based study. ( 15570086 )
2004
4
Symposium on colorectal cancer. 1. Pathology of colorectal cancer. ( 647507 )
1978

Variations for Colorectal Cancer 1

UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer 1:

71
# Symbol AA change Variation ID SNP ID
1 GALNT12 p.Arg297Trp VAR_064357 rs149726976
2 GALNT12 p.Asp303Asn VAR_064358 rs145236923
3 GALNT12 p.Glu341Asp VAR_064359
4 GALNT12 p.Arg373His VAR_064360 rs920049418
5 GALNT12 p.Arg382His VAR_064361 rs868590153
6 GALNT12 p.Cys479Phe VAR_064362
7 GALNT12 p.Thr491Met VAR_064363 rs267606840
8 GALNT12 p.Tyr396Cys VAR_068509

ClinVar genetic disease variations for Colorectal Cancer 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GALNT12 NM_024642.4(GALNT12): c.3G> A (p.Met1Ile) single nucleotide variant risk factor rs267606839 GRCh37 Chromosome 9, 101569983: 101569983
2 GALNT12 NM_024642.4(GALNT12): c.1472C> T (p.Thr491Met) single nucleotide variant risk factor rs267606840 GRCh37 Chromosome 9, 101608272: 101608272
3 GALNT12 GALNT12, TYR395TER undetermined variant risk factor

Cosmic variations for Colorectal Cancer 1:

9 (show top 50) (show all 85)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM10957 TP53 large intestine,colon,adenoma,NS c.733G>C p.G245R 6
2 COSM45138 TP53 large intestine,colon,adenoma,NS c.853G>C p.E285Q 6
3 COSM43535 TP53 large intestine,colon,adenoma,NS c.391A>C p.N131H 6
4 COSM10663 TP53 large intestine,colon,adenoma,NS c.916C>T p.R306* 6
5 COSM6932 TP53 large intestine,colon,adenoma,NS c.733G>A p.G245S 6
6 COSM45076 TP53 large intestine,rectum,adenoma,NS c.432G>C p.Q144H 6
7 COSM43606 TP53 large intestine,rectum,adenoma,NS c.734G>A p.G245D 6
8 COSM10870 TP53 large intestine,rectum,adenoma,NS c.523C>G p.R175G 6
9 COSM10648 TP53 large intestine,rectum,adenoma,NS c.524G>A p.R175H 6
10 COSM21354 STK11 large intestine,colon,adenoma,NS c.511G>A p.G171S 6
11 COSM21355 STK11 large intestine,rectum,adenoma,NS c.842C>T p.P281L 6
12 COSM14240 SMAD4 large intestine,colon,adenoma,NS c.988G>C p.E330Q 6
13 COSM14241 SMAD4 large intestine,colon,adenoma,NS c.1064A>C p.D355A 6
14 COSM5985099 RB1 large intestine,rectum,adenoma,NS c.1644A>C p.K548N 6
15 COSM569 NRAS large intestine,colon,adenoma,NS c.37G>C p.G13R 6
16 COSM584 NRAS large intestine,rectum,adenoma,NS c.182A>G p.Q61R 6
17 COSM6503131 MSH2 large intestine,colon,adenoma,NS c.589A>G p.K197E 6
18 COSM521 KRAS large intestine,colon,adenoma,NS c.35G>A p.G12D 6
19 COSM532 KRAS large intestine,colon,adenoma,NS c.38G>A p.G13D 6
20 COSM517 KRAS large intestine,colon,adenoma,NS c.34G>A p.G12S 6
21 COSM520 KRAS large intestine,colon,adenoma,NS c.35G>T p.G12V 6
22 COSM516 KRAS large intestine,colon,adenoma,NS c.34G>T p.G12C 6
23 COSM522 KRAS large intestine,colon,adenoma,NS c.35G>C p.G12A 6
24 COSM518 KRAS large intestine,colon,adenoma,NS c.34G>C p.G12R 6
25 COSM553 KRAS large intestine,rectum,adenoma,NS c.182A>T p.Q61L 6
26 COSM554 KRAS large intestine,rectum,adenoma,NS c.183A>C p.Q61H 6
27 COSM27887 GNAS large intestine,rectum,adenoma,NS c.601C>T p.R201C 6
28 COSM27895 GNAS large intestine,colon,adenoma,NS c.602G>A p.R201H 6
29 COSM25812 FBXW7 large intestine,colon,adenoma,NS c.1514G>A p.R505H 6
30 COSM22975 FBXW7 large intestine,rectum,adenoma,NS c.1513C>T p.R505C 6
31 COSM30598 FBXW7 large intestine,colon,adenoma,NS c.1558G>A p.D520N 6
32 COSM22932 FBXW7 large intestine,colon,adenoma,NS c.1393C>T p.R465C 6
33 COSM22971 FBXW7 large intestine,colon,adenoma,NS c.832C>T p.R278* 6
34 COSM30597 FBXW7 large intestine,rectum,adenoma,NS c.892C>T p.P298S 6
35 COSM22965 FBXW7 large intestine,colon,adenoma,NS c.1394G>A p.R465H 6
36 COSM21689 EGFR large intestine,colon,adenoma,NS c.1787C>T p.P596L 6
37 COSM5664 CTNNB1 large intestine,colon,adenoma,NS c.121A>G p.T41A 6
38 COSM5667 CTNNB1 large intestine,colon,adenoma,NS c.134C>T p.S45F 6
39 COSM5663 CTNNB1 large intestine,colon,adenoma,NS c.133T>C p.S45P 6
40 COSM5687 CTNNB1 large intestine,rectum,adenoma,NS c.109T>C p.S37P 6
41 COSM5671 CTNNB1 large intestine,colon,adenoma,NS c.101G>A p.G34E 6
42 COSM4675394 CTNNB1 large intestine,colon,adenoma,NS c.490G>A p.D164N 6
43 COSM5674 CTNNB1 large intestine,colon,adenoma,NS c.104T>G p.I35S 6
44 COSM5682 CTNNB1 large intestine,colon,adenoma,NS c.97T>C p.S33P 6
45 COSM476 BRAF large intestine,colon,adenoma,NS c.1799T>A p.V600E 6
46 COSM467 BRAF large intestine,colon,adenoma,NS c.1781A>G p.D594G 6
47 COSM21492 BRAF large intestine,colon,adenoma,NS c.1357C>A p.P453T 6
48 COSM21493 BRAF large intestine,colon,adenoma,NS c.1766C>T p.T589I 6
49 COSM18834 APC large intestine,colon,adenoma,NS c.4135G>T p.E1379* 6
50 COSM19056 APC large intestine,colon,adenoma,NS c.4606G>T p.E1536* 6

Expression for Colorectal Cancer 1

Search GEO for disease gene expression data for Colorectal Cancer 1.

Pathways for Colorectal Cancer 1

GO Terms for Colorectal Cancer 1

Cellular components related to Colorectal Cancer 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi lumen GO:0005796 9.02 MUC13 MUC17 MUC2 MUC4 MUC5B

Biological processes related to Colorectal Cancer 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.35 MUC13 MUC17 MUC2 MUC4 MUC5B
2 maintenance of gastrointestinal epithelium GO:0030277 9.33 MUC13 MUC2 MUC4
3 O-glycan processing GO:0016266 9.1 GALNT12 MUC13 MUC17 MUC2 MUC4 MUC5B

Molecular functions related to Colorectal Cancer 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix constituent, lubricant activity GO:0030197 8.62 MUC17 MUC4

Sources for Colorectal Cancer 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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