MCID: CLR075
MIFTS: 21

Colorectal Cancer 3

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

Aliases & Classifications for Colorectal Cancer 3

MalaCards integrated aliases for Colorectal Cancer 3:

Name: Colorectal Cancer 3 57 75 29 6
Colorectal Cancer, Susceptibility to, 3 57 13
Crcs3 57 75
Colorectal Cancer, Susceptibility to, on Chromosome 18 57
Susceptibility to Colorectal Cancer on Chromosome 18 75
Cancer, Colorectal, Susceptibility to, Type 3 40
Colorectal Cancer on Chromosome 18 57

Characteristics:

HPO:

32
colorectal cancer 3:
Inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 612229
MedGen 42 C2677123
MeSH 44 D015179
SNOMED-CT via HPO 69 363406005

Summaries for Colorectal Cancer 3

UniProtKB/Swiss-Prot : 75 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 leukemia. An important gene associated with Colorectal Cancer 3 is SMAD7 (SMAD Family Member 7). Affiliated tissues include colon and myeloid, and related phenotype is colon cancer.

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 leukemia 9.7
3 myeloid leukemia 9.7
4 colorectal cancer 9.7
5 inflammatory bowel disease 9.0 HLA-DRB1 SMAD7

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:

32
# Description HPO Frequency HPO Source Accession
1 colon cancer 32 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 29 SMAD7

Anatomical Context for Colorectal Cancer 3

MalaCards organs/tissues related to Colorectal Cancer 3:

41
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 GRCh37 Chromosome 18, 46453463: 46453463
2 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 GRCh38 Location Conf
1 COSM6932 TP53 large intestine,colon,adenoma,NS c.733G>A p.G245S 17:7674230-7674230 3
2 COSM45138 TP53 large intestine,colon,adenoma,NS c.853G>C p.E285Q 17:7673767-7673767 3
3 COSM45076 TP53 large intestine,rectum,adenoma,NS c.432G>C p.Q144H 17:7675180-7675180 3
4 COSM11354 TP53 large intestine,rectum,other,ulcerative colitis c.991C>T p.Q331* 17:7673537-7673537 3
5 COSM43606 TP53 large intestine,rectum,adenoma,NS c.734G>A p.G245D 17:7674229-7674229 3
6 COSM10870 TP53 large intestine,rectum,adenoma,NS c.523C>G p.R175G 17:7675089-7675089 3
7 COSM10648 TP53 large intestine,rectum,adenoma,NS c.524G>A p.R175H 17:7675088-7675088 3
8 COSM10957 TP53 large intestine,colon,adenoma,NS c.733G>C p.G245R 17:7674230-7674230 3
9 COSM43535 TP53 large intestine,colon,adenoma,NS c.391A>C p.N131H 17:7675221-7675221 3
10 COSM10663 TP53 large intestine,colon,adenoma,NS c.916C>T p.R306* 17:7673704-7673704 3
11 COSM21355 STK11 large intestine,rectum,adenoma,NS c.842C>T p.P281L 19:1221320-1221320 3
12 COSM21354 STK11 large intestine,colon,adenoma,NS c.511G>A p.G171S 19:1220419-1220419 3
13 COSM14240 SMAD4 large intestine,colon,adenoma,NS c.988G>C p.E330Q 18:51065455-51065455 3
14 COSM14241 SMAD4 large intestine,colon,adenoma,NS c.1064A>C p.D355A 18:51065531-51065531 3
15 COSM14143 SMAD4 large intestine,rectum,other,ulcerative colitis c.1546C>T p.Q516* 18:51078354-51078354 3
16 COSM5985099 RB1 large intestine,rectum,adenoma,NS c.1644A>C p.K548N 13:48381392-48381392 3
17 COSM569 NRAS large intestine,colon,adenoma,NS c.37G>C p.G13R 1:114716124-114716124 3
18 COSM584 NRAS large intestine,rectum,adenoma,NS c.182A>G p.Q61R 1:114713908-114713908 3
19 COSM6503131 MSH2 large intestine,colon,adenoma,NS c.589A>G p.K197E 2:47410316-47410316 3
20 COSM532 KRAS large intestine,rectum,adenoma,NS c.38G>A p.G13D 12:25245347-25245347 3
21 COSM521 KRAS large intestine,rectum,adenoma,NS c.35G>A p.G12D 12:25245350-25245350 3
22 COSM520 KRAS large intestine,rectum,adenoma,NS c.35G>T p.G12V 12:25245350-25245350 3
23 COSM516 KRAS large intestine,colon,adenoma,NS c.34G>T p.G12C 12:25245351-25245351 3
24 COSM517 KRAS large intestine,colon,adenoma,NS c.34G>A p.G12S 12:25245351-25245351 3
25 COSM528 KRAS large intestine,colon,other,ulcerative colitis c.37G>A p.G13S 12:25245348-25245348 3
26 COSM522 KRAS large intestine,colon,adenoma,NS c.35G>C p.G12A 12:25245350-25245350 3
27 COSM554 KRAS large intestine,rectum,adenoma,NS c.183A>C p.Q61H 12:25227341-25227341 3
28 COSM518 KRAS large intestine,colon,adenoma,NS c.34G>C p.G12R 12:25245351-25245351 3
29 COSM553 KRAS large intestine,rectum,adenoma,NS c.182A>T p.Q61L 12:25227342-25227342 3
30 COSM27887 GNAS large intestine,rectum,adenoma,NS c.601C>T p.R201C 20:58909365-58909365 3
31 COSM27895 GNAS large intestine,rectum,adenoma,NS c.602G>A p.R201H 20:58909366-58909366 3
32 COSM22932 FBXW7 large intestine,colon,adenoma,NS c.1393C>T p.R465C 4:152328233-152328233 3
33 COSM22975 FBXW7 large intestine,rectum,adenoma,NS c.1513C>T p.R505C 4:152326137-152326137 3
34 COSM22971 FBXW7 large intestine,colon,adenoma,NS c.832C>T p.R278* 4:152337831-152337831 3
35 COSM30597 FBXW7 large intestine,rectum,adenoma,NS c.892C>T p.P298S 4:152332689-152332689 3
36 COSM22965 FBXW7 large intestine,colon,adenoma,NS c.1394G>A p.R465H 4:152328232-152328232 3
37 COSM25812 FBXW7 large intestine,colon,adenoma,NS c.1514G>A p.R505H 4:152326136-152326136 3
38 COSM30598 FBXW7 large intestine,colon,adenoma,NS c.1558G>A p.D520N 4:152326092-152326092 3
39 COSM21689 EGFR large intestine,colon,adenoma,NS c.1787C>T p.P596L 7:55165344-55165344 3
40 COSM5667 CTNNB1 large intestine,colon,adenoma,NS c.134C>T p.S45F 3:41224646-41224646 3
41 COSM5663 CTNNB1 large intestine,colon,adenoma,NS c.133T>C p.S45P 3:41224645-41224645 3
42 COSM5687 CTNNB1 large intestine,rectum,adenoma,NS c.109T>C p.S37P 3:41224621-41224621 3
43 COSM5671 CTNNB1 large intestine,colon,adenoma,NS c.101G>A p.G34E 3:41224613-41224613 3
44 COSM5664 CTNNB1 large intestine,colon,adenoma,NS c.121A>G p.T41A 3:41224633-41224633 3
45 COSM4675394 CTNNB1 large intestine,colon,adenoma,NS c.490G>A p.D164N 3:41225202-41225202 3
46 COSM5674 CTNNB1 large intestine,colon,adenoma,NS c.104T>G p.I35S 3:41224616-41224616 3
47 COSM5682 CTNNB1 large intestine,colon,adenoma,NS c.97T>C p.S33P 3:41224609-41224609 3
48 COSM21493 BRAF large intestine,colon,adenoma,NS c.1766C>T p.T589I 7:140753369-140753369 3
49 COSM476 BRAF large intestine,colon,adenoma,NS c.1799T>A p.V600E 7:140753336-140753336 3
50 COSM21492 BRAF large intestine,colon,adenoma,NS c.1357C>A p.P453T 7:140781651-140781651 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
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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