MCID: CLR085
MIFTS: 35

Colorectal Cancer 1

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

Aliases & Classifications for Colorectal Cancer 1

MalaCards integrated aliases for Colorectal Cancer 1:

Name: Colorectal Cancer 1 57 75 29 6
Colorectal Cancer, Susceptibility to, 1 57 13
Crcs1 57 75
Colorectal Cancer, Susceptibility to, on Chromosome 9 57
Susceptibility to Colorectal Cancer on Chromosome 9 75
Colorectal Adenoma and Cancer, Susceptibility to 57
Susceptibility to Colorectal Adenoma and Cancer 75
Cancer, Colorectal, Susceptibility to, Type 1 40
Colorectal Cancer on Chromosome 9 57
Colorectal Adenoma and Cancer 57

Classifications:



External Ids:

OMIM 57 608812
MedGen 42 C1837315
MeSH 44 D015179

Summaries for Colorectal Cancer 1

UniProtKB/Swiss-Prot : 75 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 colorectal cancer and lynch syndrome i. An important gene associated with Colorectal Cancer 1 is GALNT12 (Polypeptide N-Acetylgalactosaminyltransferase 12), and among its related pathways/superpathways are Innate Immune System and Metabolism of proteins. 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 top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 colorectal cancer 26.9 GALNT12 MSH2 MUC1 MUC12 MUC2 MUC3A
2 lynch syndrome i 11.6
3 cryptogenic organizing pneumonia 10.8 MUC1 MUC5B
4 appendix cancer 10.7 MUC1 MUC2
5 ampulla of vater adenocarcinoma 10.7 MUC1 MUC2
6 sarcomatoid mesothelioma 10.7 MUC1 MUC4
7 mucinous cystadenocarcinoma 10.7 MUC1 MUC2
8 adenofibroma 10.7 MUC1 MUC16
9 microcystic adenoma 10.7 MUC1 MUC6
10 clear cell adenoma 10.6 MUC2 MUC5AC
11 breast mucoepidermoid carcinoma 10.6 MUC1 MUC5AC
12 lipid pneumonia 10.6 MUC1 MUC5B
13 biliary tract neoplasm 10.6 MUC1 MUC2 MUC4
14 cerebral primitive neuroectodermal tumor 10.6 MSH2 MUC1
15 pancreatic intraductal papillary-mucinous neoplasm 10.6 MUC1 MUC2 MUC6
16 tumor of exocrine pancreas 10.6 MUC1 MUC2 MUC6
17 small intestine cancer 10.6 MSH2 MUC2 MUC6
18 mucinous ovarian cystadenoma 10.6 MUC1 MUC5AC
19 ampulla of vater neoplasm 10.5 MUC1 MUC2 MUC6
20 polyposis, skin pigmentation, alopecia, and fingernail changes 10.5 MUC2 MUC5AC
21 colorectal adenoma 10.5
22 adenoma 10.5
23 bile duct carcinoma 10.5 MUC1 MUC2 MUC4
24 papillary adenocarcinoma 10.5 MUC1 MUC16 MUC2
25 cystic teratoma 10.5 MUC2 MUC6
26 breast secretory carcinoma 10.5 MUC1 MUC4
27 duodenum cancer 10.5 MUC1 MUC2 MUC6
28 atopic keratoconjunctivitis 10.5 MUC16 MUC5AC
29 signet ring cell adenocarcinoma 10.5 MUC1 MUC2 MUC6
30 cystadenocarcinoma 10.5 MUC1 MUC16 MUC2
31 adenomyoma 10.5 MUC1 MUC4 MUC6
32 pancreatic ductal carcinoma 10.5 MUC1 MUC2 MUC6
33 cholecystitis 10.5 MUC1 MUC2 MUC6
34 complete androgen insensitivity syndrome 10.5 MUC1 MUC5AC
35 pulmonary hemosiderosis 10.5 MUC1 MUC5B
36 meconium ileus 10.5 MUC1 MUC2 MUC5AC
37 bile duct adenocarcinoma 10.4 MUC1 MUC2 MUC5AC
38 limbal stem cell deficiency 10.4 MUC1 MUC4 MUC5AC
39 otitis media 10.4 MUC2 MUC5AC MUC5B
40 mucinous intrahepatic cholangiocarcinoma 10.4 MUC2 MUC5AC MUC6
41 superior mesenteric artery syndrome 10.4 MUC2 MUC5AC MUC6
42 ovarian mucinous neoplasm 10.4 MUC2 MUC5AC MUC6
43 dry eye syndrome 10.3 MUC1 MUC4 MUC5AC
44 epstein-barr virus-associated gastric carcinoma 10.3 MUC2 MUC5AC MUC6
45 mucinous tubular and spindle renal cell carcinoma 10.3 MUC1 MUC2 MUC4 MUC6
46 cystadenoma 10.3 MUC1 MUC2 MUC4 MUC6
47 colloid carcinoma of the pancreas 10.3 MUC1 MUC2 MUC5AC MUC5B
48 pancreatic mucinous cystadenoma 10.3 MUC1 MUC2 MUC5AC MUC5B
49 cap polyposis 10.2 MUC2 MUC3A MUC4 MUC5AC
50 mucoepidermoid carcinoma 10.2 MUC1 MUC2 MUC4 MUC5AC

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 29 GALNT12

Anatomical Context for Colorectal Cancer 1

MalaCards organs/tissues related to Colorectal Cancer 1:

41
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:

75
# 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.1472C> T (p.Thr491Met) single nucleotide variant risk factor rs267606840 GRCh37 Chromosome 9, 101608272: 101608272
2 GALNT12 NM_024642.4(GALNT12): c.1472C> T (p.Thr491Met) single nucleotide variant risk factor rs267606840 GRCh38 Chromosome 9, 98845990: 98845990
3 GALNT12 GALNT12, TYR395TER undetermined variant risk factor
4 GALNT12 NM_024642.4(GALNT12): c.776T> C (p.Val259Ala) single nucleotide variant Uncertain significance rs147356342 GRCh37 Chromosome 9, 101594098: 101594098
5 GALNT12 NM_024642.4(GALNT12): c.776T> C (p.Val259Ala) single nucleotide variant Uncertain significance rs147356342 GRCh38 Chromosome 9, 98831816: 98831816

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 GRCh38 Location Conf
1 COSM6932 TP53 large intestine,colon,adenoma,NS c.733G>A p.G245S 17:7674230-7674230 6
2 COSM45138 TP53 large intestine,colon,adenoma,NS c.853G>C p.E285Q 17:7673767-7673767 6
3 COSM45076 TP53 large intestine,rectum,adenoma,NS c.432G>C p.Q144H 17:7675180-7675180 6
4 COSM43606 TP53 large intestine,rectum,adenoma,NS c.734G>A p.G245D 17:7674229-7674229 6
5 COSM10870 TP53 large intestine,rectum,adenoma,NS c.523C>G p.R175G 17:7675089-7675089 6
6 COSM10648 TP53 large intestine,rectum,adenoma,NS c.524G>A p.R175H 17:7675088-7675088 6
7 COSM10957 TP53 large intestine,colon,adenoma,NS c.733G>C p.G245R 17:7674230-7674230 6
8 COSM43535 TP53 large intestine,colon,adenoma,NS c.391A>C p.N131H 17:7675221-7675221 6
9 COSM10663 TP53 large intestine,colon,adenoma,NS c.916C>T p.R306* 17:7673704-7673704 6
10 COSM21355 STK11 large intestine,rectum,adenoma,NS c.842C>T p.P281L 19:1221320-1221320 6
11 COSM21354 STK11 large intestine,colon,adenoma,NS c.511G>A p.G171S 19:1220419-1220419 6
12 COSM14240 SMAD4 large intestine,colon,adenoma,NS c.988G>C p.E330Q 18:51065455-51065455 6
13 COSM14241 SMAD4 large intestine,colon,adenoma,NS c.1064A>C p.D355A 18:51065531-51065531 6
14 COSM5985099 RB1 large intestine,rectum,adenoma,NS c.1644A>C p.K548N 13:48381392-48381392 6
15 COSM569 NRAS large intestine,colon,adenoma,NS c.37G>C p.G13R 1:114716124-114716124 6
16 COSM584 NRAS large intestine,rectum,adenoma,NS c.182A>G p.Q61R 1:114713908-114713908 6
17 COSM6503131 MSH2 large intestine,colon,adenoma,NS c.589A>G p.K197E 2:47410316-47410316 6
18 COSM532 KRAS large intestine,rectum,adenoma,NS c.38G>A p.G13D 12:25245347-25245347 6
19 COSM521 KRAS large intestine,rectum,adenoma,NS c.35G>A p.G12D 12:25245350-25245350 6
20 COSM520 KRAS large intestine,rectum,adenoma,NS c.35G>T p.G12V 12:25245350-25245350 6
21 COSM516 KRAS large intestine,colon,adenoma,NS c.34G>T p.G12C 12:25245351-25245351 6
22 COSM517 KRAS large intestine,colon,adenoma,NS c.34G>A p.G12S 12:25245351-25245351 6
23 COSM522 KRAS large intestine,colon,adenoma,NS c.35G>C p.G12A 12:25245350-25245350 6
24 COSM554 KRAS large intestine,rectum,adenoma,NS c.183A>C p.Q61H 12:25227341-25227341 6
25 COSM518 KRAS large intestine,colon,adenoma,NS c.34G>C p.G12R 12:25245351-25245351 6
26 COSM553 KRAS large intestine,rectum,adenoma,NS c.182A>T p.Q61L 12:25227342-25227342 6
27 COSM27887 GNAS large intestine,rectum,adenoma,NS c.601C>T p.R201C 20:58909365-58909365 6
28 COSM27895 GNAS large intestine,rectum,adenoma,NS c.602G>A p.R201H 20:58909366-58909366 6
29 COSM22932 FBXW7 large intestine,colon,adenoma,NS c.1393C>T p.R465C 4:152328233-152328233 6
30 COSM22975 FBXW7 large intestine,rectum,adenoma,NS c.1513C>T p.R505C 4:152326137-152326137 6
31 COSM22971 FBXW7 large intestine,colon,adenoma,NS c.832C>T p.R278* 4:152337831-152337831 6
32 COSM30597 FBXW7 large intestine,rectum,adenoma,NS c.892C>T p.P298S 4:152332689-152332689 6
33 COSM22965 FBXW7 large intestine,colon,adenoma,NS c.1394G>A p.R465H 4:152328232-152328232 6
34 COSM25812 FBXW7 large intestine,colon,adenoma,NS c.1514G>A p.R505H 4:152326136-152326136 6
35 COSM30598 FBXW7 large intestine,colon,adenoma,NS c.1558G>A p.D520N 4:152326092-152326092 6
36 COSM21689 EGFR large intestine,colon,adenoma,NS c.1787C>T p.P596L 7:55165344-55165344 6
37 COSM5667 CTNNB1 large intestine,colon,adenoma,NS c.134C>T p.S45F 3:41224646-41224646 6
38 COSM5663 CTNNB1 large intestine,colon,adenoma,NS c.133T>C p.S45P 3:41224645-41224645 6
39 COSM5687 CTNNB1 large intestine,rectum,adenoma,NS c.109T>C p.S37P 3:41224621-41224621 6
40 COSM5671 CTNNB1 large intestine,colon,adenoma,NS c.101G>A p.G34E 3:41224613-41224613 6
41 COSM5664 CTNNB1 large intestine,colon,adenoma,NS c.121A>G p.T41A 3:41224633-41224633 6
42 COSM4675394 CTNNB1 large intestine,colon,adenoma,NS c.490G>A p.D164N 3:41225202-41225202 6
43 COSM5674 CTNNB1 large intestine,colon,adenoma,NS c.104T>G p.I35S 3:41224616-41224616 6
44 COSM5682 CTNNB1 large intestine,colon,adenoma,NS c.97T>C p.S33P 3:41224609-41224609 6
45 COSM21493 BRAF large intestine,colon,adenoma,NS c.1766C>T p.T589I 7:140753369-140753369 6
46 COSM476 BRAF large intestine,colon,adenoma,NS c.1799T>A p.V600E 7:140753336-140753336 6
47 COSM21492 BRAF large intestine,colon,adenoma,NS c.1357C>A p.P453T 7:140781651-140781651 6
48 COSM467 BRAF large intestine,colon,adenoma,NS c.1781A>G p.D594G 7:140753354-140753354 6
49 COSM18942 APC large intestine,colon,adenoma,NS c.3928A>T p.K1310* 5:112839522-112839522 6
50 COSM18852 APC large intestine,colon,adenoma,NS c.2626C>T p.R876* 5:112838220-112838220 6

Expression for Colorectal Cancer 1

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

Pathways for Colorectal Cancer 1

Pathways related to Colorectal Cancer 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.95 MUC1 MUC12 MUC13 MUC15 MUC16 MUC17
2
Show member pathways
13.77 GALNT12 MUC1 MUC12 MUC13 MUC15 MUC16
3
Show member pathways
12.95 MUC1 MUC12 MUC13 MUC15 MUC16 MUC17
4
Show member pathways
12.62 MUC1 MUC12 MUC13 MUC15 MUC16 MUC17
5
Show member pathways
12.56 GALNT12 MUC1 MUC12 MUC13 MUC15 MUC16
6
Show member pathways
12.15 MUC1 MUC12 MUC13 MUC15 MUC16 MUC17
7
Show member pathways
12.07 MUC1 MUC12 MUC13 MUC15 MUC16 MUC17

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 plasma membrane GO:0005886 9.91 MUC1 MUC12 MUC13 MUC15 MUC16 MUC17
2 Golgi lumen GO:0005796 9.58 MUC1 MUC12 MUC13 MUC15 MUC16 MUC17
3 apical plasma membrane GO:0016324 9.56 MUC1 MUC13 MUC17 MUC20
4 extracellular region GO:0005576 10 MUC1 MUC13 MUC15 MUC16 MUC17 MUC19

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

# Name GO ID Score Top Affiliating Genes
1 O-glycan processing GO:0016266 9.93 GALNT12 MUC1 MUC12 MUC13 MUC15 MUC16
2 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.58 MUC1 MUC12 MUC13 MUC15 MUC16 MUC17
3 maintenance of gastrointestinal epithelium GO:0030277 9.46 MUC13 MUC2 MUC4 MUC6

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.13 MUC3A MUC5AC MUC6
2 extracellular matrix constituent, lubricant activity GO:0030197 8.8 MUC17 MUC3A MUC4

Sources for Colorectal Cancer 1

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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