MCID: CLR075
MIFTS: 20

Colorectal Cancer 3

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

Aliases & Classifications for Colorectal Cancer 3

MalaCards integrated aliases for Colorectal Cancer 3:

Name: Colorectal Cancer 3 53 71 28
Colorectal Cancer, Susceptibility to, 3 53 13
Crcs3 53 71
Colorectal Cancer, Susceptibility to, on Chromosome 18 53
Susceptibility to Colorectal Cancer on Chromosome 18 71
Colorectal Cancer on Chromosome 18 53

Characteristics:

HPO:

31
colorectal cancer 3:
Inheritance heterogeneous


Classifications:



External Ids:

OMIM 53 612229
MedGen 39 C2677123
MeSH 41 D015179
SNOMED-CT via HPO 65 363406005

Summaries for Colorectal Cancer 3

UniProtKB/Swiss-Prot : 71 Colorectal cancer 3: 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 3, also known as colorectal cancer, susceptibility to, 3, is related to lynch syndrome i and colorectal cancer, and has symptoms including colon cancer An important gene associated with Colorectal Cancer 3 is SMAD7 (SMAD Family Member 7). Affiliated tissues include colon and myeloid.

Description from OMIM: 612229

Related Diseases for Colorectal Cancer 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lynch syndrome i 11.1
2 colorectal cancer 9.9
3 leukemia, chronic myeloid 9.7
4 leukemia 9.7
5 myeloid leukemia 9.7

Graphical network of the top 20 diseases related to Colorectal Cancer 3:



Diseases related to Colorectal Cancer 3

Symptoms & Phenotypes for Colorectal Cancer 3

Clinical features from OMIM:

612229

Human phenotypes related to Colorectal Cancer 3:

31
# Description HPO Frequency HPO Source Accession
1 colon cancer 31 HP:0003003

Drugs & Therapeutics for Colorectal Cancer 3

Search Clinical Trials , NIH Clinical Center for Colorectal Cancer 3

Genetic Tests for Colorectal Cancer 3

Genetic tests related to Colorectal Cancer 3:

# Genetic test Affiliating Genes
1 Colorectal Cancer 3 28 SMAD7

Anatomical Context for Colorectal Cancer 3

MalaCards organs/tissues related to Colorectal Cancer 3:

38
Colon, Myeloid

Publications for Colorectal Cancer 3

Articles related to Colorectal Cancer 3:

# Title Authors Year
1
Bcr-abl positive blast crisis of chronic myeloid leukemia emerging in a case of metastatic colorectal cancer 3 months after completion of an 8-month course of cetuximab and irinotecan. ( 16494624 )
2006

Variations for Colorectal Cancer 3

ClinVar genetic disease variations for Colorectal Cancer 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SMAD7 NM_005904.3(SMAD7): c.743-5183A= single nucleotide variant risk factor rs4939827 GRCh38 Chromosome 18, 48927093: 48927093

Cosmic variations for Colorectal Cancer 3:

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 3
2 COSM45138 TP53 large intestine,colon,adenoma,NS c.853G>C p.E285Q 3
3 COSM43535 TP53 large intestine,colon,adenoma,NS c.391A>C p.N131H 3
4 COSM10663 TP53 large intestine,colon,adenoma,NS c.916C>T p.R306* 3
5 COSM6932 TP53 large intestine,colon,adenoma,NS c.733G>A p.G245S 3
6 COSM45076 TP53 large intestine,rectum,adenoma,NS c.432G>C p.Q144H 3
7 COSM11354 TP53 large intestine,rectum,other,ulcerative colitis c.991C>T p.Q331* 3
8 COSM43606 TP53 large intestine,rectum,adenoma,NS c.734G>A p.G245D 3
9 COSM10870 TP53 large intestine,rectum,adenoma,NS c.523C>G p.R175G 3
10 COSM10648 TP53 large intestine,rectum,adenoma,NS c.524G>A p.R175H 3
11 COSM21354 STK11 large intestine,colon,adenoma,NS c.511G>A p.G171S 3
12 COSM21355 STK11 large intestine,rectum,adenoma,NS c.842C>T p.P281L 3
13 COSM14240 SMAD4 large intestine,colon,adenoma,NS c.988G>C p.E330Q 3
14 COSM14241 SMAD4 large intestine,colon,adenoma,NS c.1064A>C p.D355A 3
15 COSM14143 SMAD4 large intestine,rectum,other,ulcerative colitis c.1546C>T p.Q516* 3
16 COSM5985099 RB1 large intestine,rectum,adenoma,NS c.1644A>C p.K548N 3
17 COSM569 NRAS large intestine,colon,adenoma,NS c.37G>C p.G13R 3
18 COSM584 NRAS large intestine,rectum,adenoma,NS c.182A>G p.Q61R 3
19 COSM6503131 MSH2 large intestine,colon,adenoma,NS c.589A>G p.K197E 3
20 COSM521 KRAS large intestine,colon,adenoma,NS c.35G>A p.G12D 3
21 COSM532 KRAS large intestine,colon,adenoma,NS c.38G>A p.G13D 3
22 COSM517 KRAS large intestine,colon,adenoma,NS c.34G>A p.G12S 3
23 COSM520 KRAS large intestine,colon,adenoma,NS c.35G>T p.G12V 3
24 COSM516 KRAS large intestine,colon,adenoma,NS c.34G>T p.G12C 3
25 COSM522 KRAS large intestine,colon,adenoma,NS c.35G>C p.G12A 3
26 COSM518 KRAS large intestine,colon,adenoma,NS c.34G>C p.G12R 3
27 COSM553 KRAS large intestine,rectum,adenoma,NS c.182A>T p.Q61L 3
28 COSM528 KRAS large intestine,colon,other,ulcerative colitis c.37G>A p.G13S 3
29 COSM554 KRAS large intestine,rectum,adenoma,NS c.183A>C p.Q61H 3
30 COSM27887 GNAS large intestine,rectum,adenoma,NS c.601C>T p.R201C 3
31 COSM27895 GNAS large intestine,colon,adenoma,NS c.602G>A p.R201H 3
32 COSM25812 FBXW7 large intestine,colon,adenoma,NS c.1514G>A p.R505H 3
33 COSM22975 FBXW7 large intestine,rectum,adenoma,NS c.1513C>T p.R505C 3
34 COSM30598 FBXW7 large intestine,colon,adenoma,NS c.1558G>A p.D520N 3
35 COSM22932 FBXW7 large intestine,colon,adenoma,NS c.1393C>T p.R465C 3
36 COSM22971 FBXW7 large intestine,colon,adenoma,NS c.832C>T p.R278* 3
37 COSM30597 FBXW7 large intestine,rectum,adenoma,NS c.892C>T p.P298S 3
38 COSM22965 FBXW7 large intestine,colon,adenoma,NS c.1394G>A p.R465H 3
39 COSM21689 EGFR large intestine,colon,adenoma,NS c.1787C>T p.P596L 3
40 COSM5664 CTNNB1 large intestine,colon,adenoma,NS c.121A>G p.T41A 3
41 COSM5667 CTNNB1 large intestine,colon,adenoma,NS c.134C>T p.S45F 3
42 COSM5663 CTNNB1 large intestine,colon,adenoma,NS c.133T>C p.S45P 3
43 COSM5687 CTNNB1 large intestine,rectum,adenoma,NS c.109T>C p.S37P 3
44 COSM5671 CTNNB1 large intestine,colon,adenoma,NS c.101G>A p.G34E 3
45 COSM4675394 CTNNB1 large intestine,colon,adenoma,NS c.490G>A p.D164N 3
46 COSM5674 CTNNB1 large intestine,colon,adenoma,NS c.104T>G p.I35S 3
47 COSM5682 CTNNB1 large intestine,colon,adenoma,NS c.97T>C p.S33P 3
48 COSM476 BRAF large intestine,colon,adenoma,NS c.1799T>A p.V600E 3
49 COSM467 BRAF large intestine,colon,adenoma,NS c.1781A>G p.D594G 3
50 COSM21492 BRAF large intestine,colon,adenoma,NS c.1357C>A p.P453T 3

Expression for Colorectal Cancer 3

Search GEO for disease gene expression data for Colorectal Cancer 3.

Pathways for Colorectal Cancer 3

GO Terms for Colorectal Cancer 3

Sources for Colorectal Cancer 3

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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