CRCS1
MCID: CLR085
MIFTS: 40

Colorectal Cancer 1 (CRCS1)

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

Aliases & Classifications for Colorectal Cancer 1

MalaCards integrated aliases for Colorectal Cancer 1:

Name: Colorectal Cancer 1 58 76 30 6
Colorectal Cancer, Susceptibility to, 1 58 13
Crcs1 58 76
Colorectal Cancer, Susceptibility to, on Chromosome 9 58
Susceptibility to Colorectal Cancer on Chromosome 9 76
Colorectal Adenoma and Cancer, Susceptibility to 58
Susceptibility to Colorectal Adenoma and Cancer 76
Cancer, Colorectal, Susceptibility to, Type 1 41
Colorectal Cancer on Chromosome 9 58
Colorectal Adenoma and Cancer 58

Classifications:



External Ids:

OMIM 58 608812
MeSH 45 D015179
MedGen 43 C1837315

Summaries for Colorectal Cancer 1

UniProtKB/Swiss-Prot : 76 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. The drugs Formaldehyde and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include colon, liver 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 73)
# Related Disease Score Top Affiliating Genes
1 colorectal cancer 29.2 GALNT12 MSH2 MUC1 MUC12 MUC2 MUC3A
2 lynch syndrome i 11.8
3 colorectal adenoma 10.7
4 adenoma 10.7
5 microcystic adenoma 10.4 MUC1 MUC6
6 small intestine adenocarcinoma 10.4 MUC2 MUC6
7 adenofibroma 10.4 MUC1 MUC16
8 duodenum adenocarcinoma 10.4 MUC2 MUC6
9 appendix disease 10.4 MUC2 MUC6
10 ampulla of vater adenocarcinoma 10.3 MUC1 MUC2
11 tumor of exocrine pancreas 10.3 MUC1 MUC2 MUC6
12 pancreatic intraductal papillary-mucinous neoplasm 10.3 MUC1 MUC2 MUC6
13 sarcomatoid mesothelioma 10.3 MUC1 MUC4
14 cystadenocarcinoma 10.3 MUC1 MUC16 MUC2
15 appendix cancer 10.3 MUC1 MUC2 MUC6
16 duodenum cancer 10.3 MUC1 MUC2 MUC6
17 signet ring cell adenocarcinoma 10.3 MUC1 MUC2 MUC6
18 small intestine cancer 10.3 MSH2 MUC2 MUC6
19 ampulla of vater cancer 10.3 MUC1 MUC2 MUC6
20 cryptogenic organizing pneumonia 10.3 MUC1 MUC5B
21 pancreatic ductal carcinoma 10.3 MUC1 MUC2 MUC6
22 adenomyoma 10.3 MUC1 MUC4 MUC6
23 mucinous cystadenocarcinoma 10.3 MUC1 MUC16 MUC2
24 cholecystitis 10.3 MUC1 MUC2 MUC6
25 papillary adenocarcinoma 10.3 MUC1 MUC16 MUC2
26 cystic teratoma 10.2 MUC2 MUC6
27 lipid pneumonia 10.2 MUC1 MUC5B
28 breast mucoepidermoid carcinoma 10.2 MUC1 MUC5AC
29 cerebral primitive neuroectodermal tumor 10.2 MSH2 MUC1
30 bronchiolo-alveolar adenocarcinoma 10.2 MUC2 MUC4 MUC6
31 atopic keratoconjunctivitis 10.2 MUC16 MUC5AC
32 clear cell adenoma 10.2 MUC2 MUC5AC
33 mucinous ovarian cystadenoma 10.2 MUC1 MUC5AC
34 solid adenocarcinoma with mucin production 10.2 MUC1 MUC5AC MUC6
35 mucinous intrahepatic cholangiocarcinoma 10.1 MUC2 MUC5AC MUC6
36 mucinous tubular and spindle renal cell carcinoma 10.1 MUC1 MUC2 MUC4 MUC6
37 cystadenoma 10.1 MUC1 MUC2 MUC4 MUC6
38 superior mesenteric artery syndrome 10.1 MUC2 MUC5AC MUC6
39 complete androgen insensitivity syndrome 10.1 MUC1 MUC5AC
40 polyposis, skin pigmentation, alopecia, and fingernail changes 10.1 MUC2 MUC5AC
41 ovarian mucinous neoplasm 10.1 MUC2 MUC5AC MUC6
42 gastric cardia carcinoma 10.1 MUC1 MUC5AC
43 meconium ileus 10.1 MUC1 MUC2 MUC5AC
44 epstein-barr virus-associated gastric carcinoma 10.1 MUC2 MUC5AC MUC6
45 bile duct adenocarcinoma 10.1 MUC1 MUC2 MUC5AC
46 stomach disease 10.1 MUC2 MUC5AC MUC6
47 limbal stem cell deficiency 10.1 MUC1 MUC4 MUC5AC
48 mixed ductal-endocrine carcinoma 10.0 MUC1 MUC6
49 bile duct cystadenocarcinoma 10.0 MUC1 MUC2 MUC5AC MUC6
50 pseudomyxoma peritonei 10.0 MUC1 MUC2 MUC5AC MUC6

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

Drugs for Colorectal Cancer 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Formaldehyde Approved, Vet_approved Not Applicable 50-00-0 712
2 Pharmaceutical Solutions Not Applicable
3 Cola Not Applicable
4 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Does Surface Tell us About the Invasive Front in Colorectal Cancer Unknown status NCT02002299
2 Clinical Trial Comparing Carnoy's and GEWF Solutions Completed NCT02704988 Not Applicable
3 Alternative to Two-Stage Hepatectomy Completed NCT00587756

Search 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 30 GALNT12

Anatomical Context for Colorectal Cancer 1

MalaCards organs/tissues related to Colorectal Cancer 1:

42
Colon, Liver, Appendix, Pancreas, Small Intestine, Skin, Breast

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 )
2015
3
Health-related quality of life and risk of colorectal cancer recurrence and All-cause death among advanced stages of colorectal cancer 1-year after diagnosis. ( 24886385 )
2014
4
Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers. ( 19617566 )
2009
5
Quality of life in patients with colorectal cancer 1 year after diagnosis compared with the general population: a population-based study. ( 15570086 )
2004
6
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:

76
# 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 rs127253044

ClinVar genetic disease variations for Colorectal Cancer 1:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 GALNT12 NM_024642.4(GALNT12): c.3G> A (p.Met1Ile) single nucleotide variant Uncertain significance rs267606839 GRCh37 Chromosome 9, 101569983: 101569983
2 GALNT12 NM_024642.4(GALNT12): c.3G> A (p.Met1Ile) single nucleotide variant Uncertain significance rs267606839 GRCh38 Chromosome 9, 98807701: 98807701
3 GALNT12 NM_024642.4(GALNT12): c.1472C> T (p.Thr491Met) single nucleotide variant risk factor rs267606840 GRCh37 Chromosome 9, 101608272: 101608272
4 GALNT12 NM_024642.4(GALNT12): c.1472C> T (p.Thr491Met) single nucleotide variant risk factor rs267606840 GRCh38 Chromosome 9, 98845990: 98845990
5 GALNT12 GALNT12, TYR395TER undetermined variant risk factor
6 GALNT12 NM_024642.4(GALNT12): c.776T> C (p.Val259Ala) single nucleotide variant Uncertain significance rs147356342 GRCh37 Chromosome 9, 101594098: 101594098
7 GALNT12 NM_024642.4(GALNT12): c.776T> C (p.Val259Ala) single nucleotide variant Uncertain significance rs147356342 GRCh38 Chromosome 9, 98831816: 98831816
8 GALNT12 NM_024642.4(GALNT12): c.1672A> G (p.Ser558Gly) single nucleotide variant Uncertain significance rs759843363 GRCh37 Chromosome 9, 101611300: 101611300
9 GALNT12 NM_024642.4(GALNT12): c.1672A> G (p.Ser558Gly) single nucleotide variant Uncertain significance rs759843363 GRCh38 Chromosome 9, 98849018: 98849018
10 GALNT12 NM_024642.4(GALNT12): c.608A> G (p.Asn203Ser) single nucleotide variant Uncertain significance rs375844934 GRCh37 Chromosome 9, 101589100: 101589100
11 GALNT12 NM_024642.4(GALNT12): c.608A> G (p.Asn203Ser) single nucleotide variant Uncertain significance rs375844934 GRCh38 Chromosome 9, 98826818: 98826818
12 GALNT12 NM_024642.4(GALNT12): c.329G> A (p.Arg110His) single nucleotide variant Uncertain significance rs374994372 GRCh38 Chromosome 9, 98808027: 98808027
13 GALNT12 NM_024642.4(GALNT12): c.329G> A (p.Arg110His) single nucleotide variant Uncertain significance rs374994372 GRCh37 Chromosome 9, 101570309: 101570309
14 GALNT12 NM_024642.4(GALNT12): c.609C> A (p.Asn203Lys) single nucleotide variant Uncertain significance rs370024536 GRCh38 Chromosome 9, 98826819: 98826819
15 GALNT12 NM_024642.4(GALNT12): c.609C> A (p.Asn203Lys) single nucleotide variant Uncertain significance rs370024536 GRCh37 Chromosome 9, 101589101: 101589101
16 GALNT12 NM_024642.4(GALNT12): c.715G> C (p.Glu239Gln) single nucleotide variant Uncertain significance rs777144221 GRCh38 Chromosome 9, 98826925: 98826925
17 GALNT12 NM_024642.4(GALNT12): c.715G> C (p.Glu239Gln) single nucleotide variant Uncertain significance rs777144221 GRCh37 Chromosome 9, 101589207: 101589207
18 GALNT12 NM_024642.4(GALNT12): c.1339G> A (p.Gly447Arg) single nucleotide variant Uncertain significance rs376441206 GRCh37 Chromosome 9, 101602410: 101602410
19 GALNT12 NM_024642.4(GALNT12): c.1339G> A (p.Gly447Arg) single nucleotide variant Uncertain significance rs376441206 GRCh38 Chromosome 9, 98840128: 98840128

Cosmic variations for Colorectal Cancer 1:

9 (show top 50) (show all 91)
# 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 0
2 COSM45138 TP53 large intestine,colon,adenoma,NS c.853G>C p.E285Q 17:7673767-7673767 0
3 COSM45076 TP53 large intestine,rectum,adenoma,NS c.432G>C p.Q144H 17:7675180-7675180 0
4 COSM11354 TP53 large intestine,rectum,other,ulcerative colitis c.991C>T p.Q331* 17:7673537-7673537 0
5 COSM43606 TP53 large intestine,rectum,adenoma,NS c.734G>A p.G245D 17:7674229-7674229 0
6 COSM10870 TP53 large intestine,rectum,adenoma,NS c.523C>G p.R175G 17:7675089-7675089 0
7 COSM43687 TP53 large intestine,colon,adenoma,NS c.641A>G p.H214R 17:7674890-7674890 0
8 COSM10648 TP53 large intestine,rectum,adenoma,NS c.524G>A p.R175H 17:7675088-7675088 0
9 COSM10957 TP53 large intestine,colon,adenoma,NS c.733G>C p.G245R 17:7674230-7674230 0
10 COSM43535 TP53 large intestine,colon,adenoma,NS c.391A>C p.N131H 17:7675221-7675221 0
11 COSM10663 TP53 large intestine,colon,adenoma,NS c.916C>T p.R306* 17:7673704-7673704 0
12 COSM21355 STK11 large intestine,rectum,adenoma,NS c.842C>T p.P281L 19:1221320-1221320 0
13 COSM21354 STK11 large intestine,colon,adenoma,NS c.511G>A p.G171S 19:1220419-1220419 0
14 COSM14240 SMAD4 large intestine,colon,adenoma,NS c.988G>C p.E330Q 18:51065455-51065455 0
15 COSM14241 SMAD4 large intestine,colon,adenoma,NS c.1064A>C p.D355A 18:51065531-51065531 0
16 COSM14122 SMAD4 large intestine,rectum,adenoma,NS c.1082G>A p.R361H 18:51065549-51065549 0
17 COSM14143 SMAD4 large intestine,rectum,other,ulcerative colitis c.1546C>T p.Q516* 18:51078354-51078354 0
18 COSM5985099 RB1 large intestine,rectum,adenoma,NS c.1644A>C p.K548N 13:48381392-48381392 0
19 COSM569 NRAS large intestine,colon,adenoma,NS c.37G>C p.G13R 1:114716124-114716124 0
20 COSM584 NRAS large intestine,rectum,adenoma,NS c.182A>G p.Q61R 1:114713908-114713908 0
21 COSM6503131 MSH2 large intestine,colon,adenoma,NS c.589A>G p.K197E 2:47410316-47410316 0
22 COSM520 KRAS large intestine,rectum,adenoma,NS c.35G>T p.G12V 12:25245350-25245350 0
23 COSM521 KRAS large intestine,rectum,adenoma,NS c.35G>A p.G12D 12:25245350-25245350 0
24 COSM532 KRAS large intestine,rectum,adenoma,NS c.38G>A p.G13D 12:25245347-25245347 0
25 COSM553 KRAS large intestine,rectum,adenoma,NS c.182A>T p.Q61L 12:25227342-25227342 0
26 COSM516 KRAS large intestine,colon,adenoma,NS c.34G>T p.G12C 12:25245351-25245351 0
27 COSM528 KRAS large intestine,colon,other,ulcerative colitis c.37G>A p.G13S 12:25245348-25245348 0
28 COSM554 KRAS large intestine,rectum,adenoma,NS c.183A>C p.Q61H 12:25227341-25227341 0
29 COSM517 KRAS large intestine,colon,adenoma,NS c.34G>A p.G12S 12:25245351-25245351 0
30 COSM522 KRAS large intestine,colon,adenoma,NS c.35G>C p.G12A 12:25245350-25245350 0
31 COSM518 KRAS large intestine,colon,adenoma,NS c.34G>C p.G12R 12:25245351-25245351 0
32 COSM555 KRAS large intestine,rectum,adenoma,NS c.183A>T p.Q61H 12:25227341-25227341 0
33 COSM27895 GNAS large intestine,rectum,adenoma,NS c.602G>A p.R201H 20:58909366-58909366 0
34 COSM27887 GNAS large intestine,colon,adenoma,NS c.601C>T p.R201C 20:58909365-58909365 0
35 COSM27058 FBXW7 large intestine,rectum,adenoma,NS c.1436G>T p.R479L 4:152326214-152326214 0
36 COSM22932 FBXW7 large intestine,colon,adenoma,NS c.1393C>T p.R465C 4:152328233-152328233 0
37 COSM22975 FBXW7 large intestine,rectum,adenoma,NS c.1513C>T p.R505C 4:152326137-152326137 0
38 COSM22971 FBXW7 large intestine,colon,adenoma,NS c.832C>T p.R278* 4:152337831-152337831 0
39 COSM30597 FBXW7 large intestine,rectum,adenoma,NS c.892C>T p.P298S 4:152332689-152332689 0
40 COSM22965 FBXW7 large intestine,colon,adenoma,NS c.1394G>A p.R465H 4:152328232-152328232 0
41 COSM25812 FBXW7 large intestine,colon,adenoma,NS c.1514G>A p.R505H 4:152326136-152326136 0
42 COSM30598 FBXW7 large intestine,colon,adenoma,NS c.1558G>A p.D520N 4:152326092-152326092 0
43 COSM21689 EGFR large intestine,colon,adenoma,NS c.1787C>T p.P596L 7:55165344-55165344 0
44 COSM5667 CTNNB1 large intestine,colon,adenoma,NS c.134C>T p.S45F 3:41224646-41224646 0
45 COSM5687 CTNNB1 large intestine,rectum,adenoma,NS c.109T>C p.S37P 3:41224621-41224621 0
46 COSM5671 CTNNB1 large intestine,colon,adenoma,NS c.101G>A p.G34E 3:41224613-41224613 0
47 COSM5664 CTNNB1 large intestine,colon,adenoma,NS c.121A>G p.T41A 3:41224633-41224633 0
48 COSM4675394 CTNNB1 large intestine,colon,adenoma,NS c.490G>A p.D164N 3:41225202-41225202 0
49 COSM5674 CTNNB1 large intestine,colon,adenoma,NS c.104T>G p.I35S 3:41224616-41224616 0
50 COSM5663 CTNNB1 large intestine,colon,adenoma,NS c.133T>C p.S45P 3:41224645-41224645 0

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 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 vesicle GO:0031982 9.5 MUC1 MUC16 MUC4
5 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 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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