CRCS12
MCID: CLR087
MIFTS: 34

Colorectal Cancer 12 (CRCS12)

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

Aliases & Classifications for Colorectal Cancer 12

MalaCards integrated aliases for Colorectal Cancer 12:

Name: Colorectal Cancer 12 57 72
Colorectal Cancer, Susceptibility to, 12 57 29 13 6
Crcs12 57 72
Colorectal Cancer, Susceptibility to, on Chromosome 12q24 57
Susceptibility to Colorectal Cancer on Chromosome 12q24 72
Cancer, Colorectal, Susceptibility to, Type 12 39
Colorectal Cancer on Chromosome 12q24 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset before age 40 years
tumors are microsatellite stable
patients develop multiple tumors
some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes


HPO:

31
colorectal cancer 12:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM® 57 615083
MeSH 44 D015179
SNOMED-CT via HPO 68 263681008 399505005 68453008

Summaries for Colorectal Cancer 12

UniProtKB/Swiss-Prot : 72 Colorectal cancer 12: 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. CRCS12 is characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic features of the tumors are unremarkable.

MalaCards based summary : Colorectal Cancer 12, also known as colorectal cancer, susceptibility to, 12, is related to colorectal cancer. An important gene associated with Colorectal Cancer 12 is POLE (DNA Polymerase Epsilon, Catalytic Subunit). Affiliated tissues include colon, liver and thyroid, and related phenotypes are colorectal polyposis and carcinoma

OMIM® : 57 Colorectal cancer-12 (CRCS12) is an autosomal dominant disorder characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset usually occurs before age 40 years. The histologic features of the tumors may be unremarkable (Palles et al., 2013) or show microsatellite instability (MSI) (Elsayed et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see 114500. (615083) (Updated 05-Apr-2021)

Related Diseases for Colorectal Cancer 12

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

# Related Disease Score Top Affiliating Genes
1 colorectal cancer 9.9

Symptoms & Phenotypes for Colorectal Cancer 12

Human phenotypes related to Colorectal Cancer 12:

31
# Description HPO Frequency HPO Source Accession
1 colorectal polyposis 31 HP:0200063
2 carcinoma 31 HP:0030731

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
colorectal adenomas
colorectal polyps
colorectal carcinoma

Neoplasia:
endometrial cancer
colorectal carcinoma

Clinical features from OMIM®:

615083 (Updated 05-Apr-2021)

Drugs & Therapeutics for Colorectal Cancer 12

Search Clinical Trials , NIH Clinical Center for Colorectal Cancer 12

Genetic Tests for Colorectal Cancer 12

Genetic tests related to Colorectal Cancer 12:

# Genetic test Affiliating Genes
1 Colorectal Cancer, Susceptibility to, 12 29 POLE

Anatomical Context for Colorectal Cancer 12

MalaCards organs/tissues related to Colorectal Cancer 12:

40
Colon, Liver, Thyroid

Publications for Colorectal Cancer 12

Articles related to Colorectal Cancer 12:

(show all 31)
# Title Authors PMID Year
1
Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer. 6 57
25370038 2015
2
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. 6 57
24501277 2014
3
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. 57 6
23263490 2013
4
POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer. 6
28423643 2017
5
Immunogenomics of Hypermutated Glioblastoma: A Patient with Germline POLE Deficiency Treated with Checkpoint Blockade Immunotherapy. 6
27683556 2016
6
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance. 57
26133394 2016
7
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. 6
25529843 2015
8
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes. 6
25948378 2015
9
Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers. 6
23447401 2013
10
Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome"). 6
23230001 2012
11
A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae. 6
16699561 2006
12
Okazaki fragment maturation in yeast. II. Cooperation between the polymerase and 3'-5'-exonuclease activities of Pol delta in the creation of a ligatable nick. 6
12424237 2003
13
Expression of clock gene Dbp in omental and mesenteric adipose tissue in patients with type 2 diabetes. 61
32816832 2020
14
Interim analysis of a real-world precision medicine platform for molecular profiling of metastatic or advanced cancers: MONDTI. 61
31423337 2019
15
Liver metastasis from colorectal cancer 12 years after liver transplantation. 61
28190365 2017
16
Use of a computerised decision aid (DA) to inform the decision process on adjuvant chemotherapy in patients with stage II colorectal cancer: development and preliminary evaluation. 61
28341685 2017
17
Radiological features of metastases to the thyroid. 61
25907117 2016
18
Screening and early detection of lung cancer. 61
21263260 2011
19
Use of cancer-screening services among persons with serious mental illness in Sacramento County. 61
18678693 2008
20
Patient satisfaction in outpatient cancer care: a prospective survey using The PASQOC questionnaire. 61
18204867 2008
21
Epigenetic silencing of the intronic microRNA hsa-miR-342 and its host gene EVL in colorectal cancer. 61
18264139 2008
22
Phase II study of regional chemotherapy using the hypoxic abdominal perfusion technique in advanced abdominal carcinoma. 5-FU pharmacokinetics, complications and outcome. 61
17348458 2007
23
[Combined multimodal treatment for liver and lung metastasis from colorectal cancer: a new therapeutic option?]. 61
11586561 2001
24
Flexible sigmoidoscopy screening for colorectal cancer in average-risk people: update of a community-based project. 61
11149301 2000
25
Detection of telomerase activity in biopsy samples of colorectal cancer. 61
10207781 1999
26
Surgery for recurrent colon cancer: strategies for identifying resectable recurrence and success rates after resection. Eastern Cooperative Oncology Group, the North Central Cancer Treatment Group, and the Southwest Oncology Group. 61
9652996 1998
27
Higher levels of thymidylate synthase gene expression are observed in pulmonary as compared with hepatic metastases of colorectal adenocarcinoma. 61
9552053 1998
28
Open access endoscopy for hospitalized patients. 61
9382044 1997
29
Characterization of tumor-infiltrating lymphocytes derived from human tumors for use as adoptive immunotherapy of cancer. 61
9336745 1997
30
Frequent loss of heterozygosity for loci on chromosome 8p in hepatocellular carcinoma, colorectal cancer, and lung cancer. 61
1356616 1992
31
Results of 32 major hepatic resections for primary and secondary malignancies of the liver. 61
3535619 1986

Variations for Colorectal Cancer 12

ClinVar genetic disease variations for Colorectal Cancer 12:

6 (show top 50) (show all 3705)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLE NM_006231.3(POLE):c.1270C>G (p.Leu424Val) SNV Pathogenic 40046 rs483352909 GRCh37: 12:133250250-133250250
GRCh38: 12:132673664-132673664
2 POLE NM_006231.3(POLE):c.1270C>G (p.Leu424Val) SNV Pathogenic 40046 rs483352909 GRCh37: 12:133250250-133250250
GRCh38: 12:132673664-132673664
3 POLE NM_006231.3(POLE):c.141del (p.Phe48fs) Deletion Likely pathogenic 587359 rs761329565 GRCh37: 12:133257787-133257787
GRCh38: 12:132681201-132681201
4 POLE NM_006231.3(POLE):c.4444+3A>G SNV Likely pathogenic 41417 rs398122515 GRCh37: 12:133219990-133219990
GRCh38: 12:132643404-132643404
5 POLE NM_006231.3(POLE):c.664C>T (p.Arg222Cys) SNV Conflicting interpretations of pathogenicity 582662 rs767503360 GRCh37: 12:133254220-133254220
GRCh38: 12:132677634-132677634
6 POLE NM_006231.3(POLE):c.5379-5T>C SNV Conflicting interpretations of pathogenicity 372018 rs761910924 GRCh37: 12:133215889-133215889
GRCh38: 12:132639303-132639303
7 POLE NM_006231.3(POLE):c.5678+3G>A SNV Conflicting interpretations of pathogenicity 405724 rs1060500826 GRCh37: 12:133214597-133214597
GRCh38: 12:132638011-132638011
8 POLE NM_006231.3(POLE):c.3904C>T (p.Leu1302Phe) SNV Conflicting interpretations of pathogenicity 473632 rs1555223949 GRCh37: 12:133225993-133225993
GRCh38: 12:132649407-132649407
9 POLE NM_006231.3(POLE):c.5679-3C>T SNV Conflicting interpretations of pathogenicity 473756 rs1555221512 GRCh37: 12:133212613-133212613
GRCh38: 12:132636027-132636027
10 POLE NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) SNV Conflicting interpretations of pathogenicity 221066 rs151273553 GRCh37: 12:133250183-133250183
GRCh38: 12:132673597-132673597
11 POLE NM_006231.4(POLE):c.6004+5G>T SNV Conflicting interpretations of pathogenicity 220739 rs372169366 GRCh37: 12:133210767-133210767
GRCh38: 12:132634181-132634181
12 POLE NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg) SNV Conflicting interpretations of pathogenicity 240611 rs367970442 GRCh37: 12:133201570-133201570
GRCh38: 12:132624984-132624984
13 POLE NM_006231.4(POLE):c.940T>G (p.Ser314Ala) SNV Conflicting interpretations of pathogenicity 224589 rs770403791 GRCh37: 12:133252760-133252760
GRCh38: 12:132676174-132676174
14 POLE NM_006231.3(POLE):c.5900C>T (p.Ala1967Val) SNV Conflicting interpretations of pathogenicity 246263 rs201273415 GRCh37: 12:133210876-133210876
GRCh38: 12:132634290-132634290
15 POLE NM_006231.3(POLE):c.3862G>A (p.Ala1288Thr) SNV Conflicting interpretations of pathogenicity 240482 rs200398117 GRCh37: 12:133226035-133226035
GRCh38: 12:132649449-132649449
16 POLE NM_006231.3(POLE):c.1021G>T (p.Ala341Ser) SNV Conflicting interpretations of pathogenicity 240372 rs137860861 GRCh37: 12:133252406-133252406
GRCh38: 12:132675820-132675820
17 POLE NM_006231.4(POLE):c.941C>G (p.Ser314Ter) SNV Conflicting interpretations of pathogenicity 224590 rs869312803 GRCh37: 12:133252759-133252759
GRCh38: 12:132676173-132676173
18 POLE NM_006231.4(POLE):c.861T>A (p.Asp287Glu) SNV Conflicting interpretations of pathogenicity 221000 rs139075637 GRCh37: 12:133253180-133253180
GRCh38: 12:132676594-132676594
19 POLE NM_006231.3(POLE):c.6531+6G>T SNV Conflicting interpretations of pathogenicity 240601 rs774747998 GRCh37: 12:133202697-133202697
GRCh38: 12:132626111-132626111
20 POLE NM_006231.4(POLE):c.721-13GT[2] Microsatellite Conflicting interpretations of pathogenicity 371991 rs752682384 GRCh37: 12:133254037-133254038
GRCh38: 12:132677451-132677452
21 POLE NM_006231.3(POLE):c.2932G>T (p.Glu978Ter) SNV Conflicting interpretations of pathogenicity 548907 rs1555225958 GRCh37: 12:133237683-133237683
GRCh38: 12:132661097-132661097
22 POLE NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) SNV Conflicting interpretations of pathogenicity 240386 rs140566004 GRCh37: 12:133250232-133250232
GRCh38: 12:132673646-132673646
23 POLE NM_006231.3(POLE):c.155G>A (p.Arg52Gln) SNV Conflicting interpretations of pathogenicity 413598 rs372459649 GRCh37: 12:133257773-133257773
GRCh38: 12:132681187-132681187
24 POLE NM_006231.3(POLE):c.2865-3C>T SNV Conflicting interpretations of pathogenicity 473560 rs1203095918 GRCh37: 12:133237753-133237753
GRCh38: 12:132661167-132661167
25 POLE NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) SNV Conflicting interpretations of pathogenicity 265355 rs201115064 GRCh37: 12:133240613-133240613
GRCh38: 12:132664027-132664027
26 POLE NM_006231.4(POLE):c.4523G>A (p.Arg1508His) SNV Conflicting interpretations of pathogenicity 240525 rs142508245 GRCh37: 12:133219838-133219838
GRCh38: 12:132643252-132643252
27 POLE NM_006231.3(POLE):c.4057A>G (p.Ser1353Gly) SNV Conflicting interpretations of pathogenicity 240500 rs141619382 GRCh37: 12:133225607-133225607
GRCh38: 12:132649021-132649021
28 POLE NM_006231.4(POLE):c.3046G>A (p.Val1016Met) SNV Conflicting interpretations of pathogenicity 220916 rs147692158 GRCh37: 12:133237569-133237569
GRCh38: 12:132660983-132660983
29 POLE NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) SNV Conflicting interpretations of pathogenicity 240423 rs36120395 GRCh37: 12:133245025-133245025
GRCh38: 12:132668439-132668439
30 POLE NM_006231.3(POLE):c.6734C>G (p.Thr2245Ser) SNV Uncertain significance 473811 rs747676884 GRCh37: 12:133201504-133201504
GRCh38: 12:132624918-132624918
31 POLE NM_006231.3(POLE):c.4646C>G (p.Pro1549Arg) SNV Uncertain significance 473681 rs577952179 GRCh37: 12:133219488-133219488
GRCh38: 12:132642902-132642902
32 POLE NM_006231.3(POLE):c.629A>G (p.Lys210Arg) SNV Uncertain significance 473792 rs765826619 GRCh37: 12:133254255-133254255
GRCh38: 12:132677669-132677669
33 POLE NM_006231.3(POLE):c.6775C>T (p.Arg2259Trp) SNV Uncertain significance 421275 rs866548835 GRCh37: 12:133201369-133201369
GRCh38: 12:132624783-132624783
34 POLE NM_006231.3(POLE):c.4195G>C (p.Glu1399Gln) SNV Uncertain significance 473653 rs5744935 GRCh37: 12:133220518-133220518
GRCh38: 12:132643932-132643932
35 POLE NM_006231.3(POLE):c.5777A>G (p.Lys1926Arg) SNV Uncertain significance 473764 rs757847276 GRCh37: 12:133212512-133212512
GRCh38: 12:132635926-132635926
36 POLE NM_006231.3(POLE):c.1642G>A (p.Glu548Lys) SNV Uncertain significance 473475 rs908638591 GRCh37: 12:133249257-133249257
GRCh38: 12:132672671-132672671
37 POLE NM_006231.3(POLE):c.6713G>A (p.Cys2238Tyr) SNV Uncertain significance 473809 rs1555300810 GRCh37: 12:133201525-133201525
GRCh38: 12:132624939-132624939
38 POLE NM_006231.3(POLE):c.2485A>G (p.Met829Val) SNV Uncertain significance 473534 rs762395135 GRCh37: 12:133241032-133241032
GRCh38: 12:132664446-132664446
39 POLE NM_006231.3(POLE):c.461G>A (p.Arg154Lys) SNV Uncertain significance 246050 rs769882912 GRCh37: 12:133256200-133256200
GRCh38: 12:132679614-132679614
40 POLE NM_006231.3(POLE):c.4907A>C (p.Tyr1636Ser) SNV Uncertain significance 473698 rs1555222562 GRCh37: 12:133219137-133219137
GRCh38: 12:132642551-132642551
41 POLE NM_006231.3(POLE):c.1193A>G (p.Lys398Arg) SNV Uncertain significance 473442 rs1402549512 GRCh37: 12:133252017-133252017
GRCh38: 12:132675431-132675431
42 POLE NM_006231.3(POLE):c.4149+3A>C SNV Uncertain significance 473646 rs1358505756 GRCh37: 12:133225512-133225512
GRCh38: 12:132648926-132648926
43 POLE NM_006231.3(POLE):c.6065G>A (p.Ser2022Asn) SNV Uncertain significance 405648 rs905858506 GRCh37: 12:133209321-133209321
GRCh38: 12:132632735-132632735
44 POLE NM_006231.3(POLE):c.5237A>G (p.Asn1746Ser) SNV Uncertain significance 405804 rs377461656 GRCh37: 12:133218374-133218374
GRCh38: 12:132641788-132641788
45 POLE NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) SNV Uncertain significance 405704 rs771490182 GRCh37: 12:133202789-133202789
GRCh38: 12:132626203-132626203
46 POLE NM_006231.3(POLE):c.1468G>A (p.Asp490Asn) SNV Uncertain significance 405843 rs755463796 GRCh37: 12:133249755-133249755
GRCh38: 12:132673169-132673169
47 POLE NM_006231.3(POLE):c.2255_2257del (p.Ser752del) Deletion Uncertain significance 240430 rs878854850 GRCh37: 12:133244151-133244153
GRCh38: 12:132667565-132667567
48 POLE NM_006231.4(POLE):c.5914G>C (p.Val1972Leu) SNV Uncertain significance 937359 GRCh37: 12:133210862-133210862
GRCh38: 12:132634276-132634276
49 POLE NM_006231.4(POLE):c.6299C>T (p.Pro2100Leu) SNV Uncertain significance 1034504 GRCh37: 12:133208932-133208932
GRCh38: 12:132632346-132632346
50 POLE NM_006231.4(POLE):c.6110C>A (p.Ala2037Asp) SNV Uncertain significance 1034517 GRCh37: 12:133209276-133209276
GRCh38: 12:132632690-132632690

UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer 12:

72
# Symbol AA change Variation ID SNP ID
1 POLE p.Val411Leu VAR_069343 rs105751994
2 POLE p.Leu424Val VAR_069344 rs483352909
3 POLE p.Tyr458Phe VAR_077350

Cosmic variations for Colorectal Cancer 12:

9 (show top 50) (show all 54785)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88263736 ZRSR2 large intestine,colon,carcinoma,adenocarcinoma c.553G>T p.D185Y 23:15809314-15809314 4
2 COSM88261539 ZRSR2 large intestine,colon,carcinoma,adenocarcinoma c.917G>A p.R306Q 23:15820296-15820296 4
3 COSM95950816 ZNHIT6 large intestine,colon,carcinoma,adenocarcinoma c.1364T>A p.L455H 1:85657855-85657855 4
4 COSM110240486 ZNHIT6 large intestine,colon,carcinoma,adenocarcinoma c.1247T>A p.L416H 1:85657855-85657855 4
5 COSM86861594 ZNHIT1 large intestine,colon,carcinoma,adenocarcinoma c.400C>T p.R134W 7:101223799-101223799 4
6 COSM98771566 ZNF813 large intestine,colon,carcinoma,adenocarcinoma c.1639G>A p.G547R 19:53491871-53491871 4
7 COSM91871130 ZNF536 large intestine,colon,carcinoma,adenocarcinoma c.1158G>T p.W386C 19:30444720-30444720 4
8 COSM91870713 ZNF536 large intestine,colon,carcinoma,adenocarcinoma c.2533C>G p.L845V 19:30548152-30548152 4
9 COSM94777824 ZNF521 large intestine,colon,carcinoma,adenocarcinoma c.3524C>T p.T1175M 18:25224394-25224394 4
10 COSM131481019 ZNF521 large intestine,rectum,carcinoma,adenocarcinoma c.799G>C p.E267Q 18:25227119-25227119 4
11 COSM94774956 ZNF521 large intestine,rectum,carcinoma,adenocarcinoma c.799G>C p.E267Q 18:25227119-25227119 4
12 COSM140705261 ZNF521 large intestine,colon,carcinoma,adenocarcinoma c.2864C>T p.T955M 18:25224394-25224394 4
13 COSM140703236 ZNF521 large intestine,rectum,carcinoma,adenocarcinoma c.139G>C p.E47Q 18:25227119-25227119 4
14 COSM131484378 ZNF521 large intestine,colon,carcinoma,adenocarcinoma c.3524C>T p.T1175M 18:25224394-25224394 4
15 COSM86916483 ZNF280D large intestine,colon,carcinoma,adenocarcinoma c.2020A>C p.R674= 15:56658461-56658461 4
16 COSM136198199 ZNF280D large intestine,colon,carcinoma,adenocarcinoma c.1981A>C p.R661= 15:56658461-56658461 4
17 COSM84512904 ZNF276 large intestine,colon,carcinoma,adenocarcinoma c.*438C>T p.? 16:89738684-89738684 4
18 COSM84507966 ZNF276 large intestine,colon,carcinoma,adenocarcinoma c.*664G>A p.? 16:89738910-89738910 4
19 COSM95251466 ZNF217 large intestine,colon,carcinoma,adenocarcinoma c.967G>A p.D323N 20:53581860-53581860 4
20 COSM88695903 ZNF217 large intestine,colon,carcinoma,adenocarcinoma c.967G>A p.D323N 20:53581860-53581860 4
21 COSM88697637 ZNF155 large intestine,colon,carcinoma,adenocarcinoma c.1421A>G p.H474R 19:43997278-43997278 4
22 COSM141944208 ZNF155 large intestine,colon,carcinoma,adenocarcinoma c.1421A>G p.H474R 19:43997278-43997278 4
23 COSM105811781 ZNF155 large intestine,colon,carcinoma,adenocarcinoma c.1454A>G p.H485R 19:43997278-43997278 4
24 COSM140959108 ZNF155 large intestine,colon,carcinoma,adenocarcinoma c.1421A>G p.H474R 19:43997278-43997278 4
25 COSM110017805 ZMIZ2 large intestine,colon,carcinoma,adenocarcinoma c.1850G>A p.R617H 7:44763403-44763403 4
26 COSM110177741 ZMIZ2 large intestine,colon,carcinoma,adenocarcinoma c.1754G>A p.R585H 7:44763403-44763403 4
27 COSM142570150 ZMIZ2 large intestine,colon,carcinoma,adenocarcinoma c.1859G>A p.R620H 7:44763403-44763403 4
28 COSM102902058 ZMIZ2 large intestine,colon,carcinoma,adenocarcinoma c.1676G>A p.R559H 7:44763403-44763403 4
29 COSM89535029 ZMIZ2 large intestine,colon,carcinoma,adenocarcinoma c.1850G>A p.R617H 7:44763403-44763403 4
30 COSM84914866 ZMIZ2 large intestine,colon,carcinoma,adenocarcinoma c.1772G>A p.R591H 7:44763403-44763403 4
31 COSM127394330 ZFHX4 large intestine,rectum,carcinoma,adenocarcinoma c.8291C>T p.P2764L 8:76855212-76855212 4
32 COSM127388315 ZFHX4 large intestine,colon,carcinoma,adenocarcinoma c.681C>A p.F227L 8:76704769-76704769 4
33 COSM125167414 ZFHX4 large intestine,rectum,carcinoma,adenocarcinoma c.8213C>T p.P2738L 8:76855212-76855212 4
34 COSM125161701 ZFHX4 large intestine,colon,carcinoma,adenocarcinoma c.681C>A p.F227L 8:76704769-76704769 4
35 COSM102026679 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.4748C>T p.S1583L 16:72795192-72795192 4
36 COSM149275347 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7928G>A p.R2643H 16:72794754-72794754 4
37 COSM87283250 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.7279G>A p.D2427N 16:72795403-72795403 4
38 COSM87290885 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.8875A>G p.K2959E 16:72793807-72793807 4
39 COSM102030577 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2813A>C p.Q938P 16:72797127-72797127 4
40 COSM102039141 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.6725G>A p.S2242N 16:72788809-72788809 4
41 COSM102047808 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7255C>A p.Q2419K 16:72788279-72788279 4
42 COSM87287972 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7381G>A p.E2461K 16:72795301-72795301 4
43 COSM149294291 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.392G>T p.G131V 16:72959754-72959754 4
44 COSM102035995 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.-23-7558G>C p.? 16:72958523-72958523 4
45 COSM102038517 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.4639G>A p.E1547K 16:72795301-72795301 4
46 COSM149316595 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.4628G>A p.R1543H 16:72798054-72798054 4
47 COSM149297634 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.9227T>G p.M3076R 16:72793455-72793455 4
48 COSM87287954 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7804A>G p.T2602A 16:72794878-72794878 4
49 COSM149331878 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2548C>A p.L850I 16:72957598-72957598 4
50 COSM87296576 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.9997C>A p.Q3333K 16:72788279-72788279 4

Expression for Colorectal Cancer 12

Search GEO for disease gene expression data for Colorectal Cancer 12.

Pathways for Colorectal Cancer 12

GO Terms for Colorectal Cancer 12

Sources for Colorectal Cancer 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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