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MCID: CLR077
MIFTS: 26

Colorectal Cancer 10

Categories: Genetic diseases, Cancer diseases, Gastrointestinal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Colorectal Cancer 10

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MalaCards integrated aliases for Colorectal Cancer 10:

Name: Colorectal Cancer 10 57 75 29 6
Crcs10 57 75
Colorectal Cancer, Susceptibility to, on Chromosome 19q 57
Susceptibility to Colorectal Cancer on Chromosome 19q 75
Cancer, Colorectal, Susceptibility to, Type 10 40
Colorectal Cancer, Susceptibility to, 10 57
Colorectal Cancer on Chromosome 19q 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
tumors are microsatellite stable
onset usually before age 40 years
patients develop multiple tumors


HPO:

32
colorectal cancer 10:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Cancer diseases Rare diseases
Anatomical: Gastrointestinal diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 57 612591
MedGen 42 C2675481
MeSH 44 D015179
SNOMED-CT via HPO 69 263681008 254878006 399505005
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Summaries for Colorectal Cancer 10

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UniProtKB/Swiss-Prot : 75 Colorectal cancer 10: 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 10, also known as crcs10, is related to colorectal cancer and adenoma. An important gene associated with Colorectal Cancer 10 is POLD1 (DNA Polymerase Delta 1, Catalytic Subunit). The drugs Follicle Stimulating Hormone and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include colon, and related phenotypes are endometrial carcinoma and colorectal polyposis

Description from OMIM: 612591
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Related Diseases for Colorectal Cancer 10

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

# Related Disease Score Top Affiliating Genes
1 colorectal cancer 9.9
2 adenoma 9.7

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Symptoms & Phenotypes for Colorectal Cancer 10

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Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
colorectal adenomas
colorectal polyps
colorectal carcinoma

Neoplasia:
colorectal carcinoma
endometrial carcinoma

Genitourinary Internal Genitalia Female:
endometrial carcinoma


Clinical features from OMIM:

612591

Human phenotypes related to Colorectal Cancer 10:

32
# Description HPO Frequency HPO Source Accession
1 endometrial carcinoma 32 HP:0012114
2 colorectal polyposis 32 HP:0200063

GenomeRNAi Phenotypes related to Colorectal Cancer 10 according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.47 POLD1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.47 SPIB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.47 POLD1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.47 POLD1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.47 SPIB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.47 SPIB
7 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.47 POLD1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.47 SPIB
9 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.47 SPIB
10 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.47 POLD1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.47 SPIB
12 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.47 POLD1 SPIB
13 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.47 SPIB
Sources

Drugs & Therapeutics for Colorectal Cancer 10

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Drugs for Colorectal Cancer 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Follicle Stimulating Hormone Not Applicable
2 Hormone Antagonists Not Applicable
3 Hormones Not Applicable
4 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 FSH-R : Diagnostic Application for Localized Tumors in Cancerology Terminated NCT02860481 Not Applicable

Search NIH Clinical Center for Colorectal Cancer 10

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Genetic Tests for Colorectal Cancer 10

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Genetic tests related to Colorectal Cancer 10:

# Genetic test Affiliating Genes
1 Colorectal Cancer 10 29 POLD1
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Anatomical Context for Colorectal Cancer 10

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MalaCards organs/tissues related to Colorectal Cancer 10:

41
Colon
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Publications for Colorectal Cancer 10

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Articles related to Colorectal Cancer 10:

# Title Authors Year
1
Short- and long-term outcomes following laparoscopic<i>vs</i>open surgery for pathological T4 colorectal cancer: 10 years of experience in a single center. ( 29358884 )
2018
2
Polypectomy of adenomas in the prevention of colorectal cancer: 10 years' follow-up of the Telemark Polyp Study I. A prospective, controlled population study. ( 8898422 )
1996
Sources

Variations for Colorectal Cancer 10

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UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer 10:

75
# Symbol AA change Variation ID SNP ID
1 POLD1 p.Ser478Asn VAR_069335 rs397514632
2 POLD1 p.Leu474Pro VAR_071966 rs587777627

ClinVar genetic disease variations for Colorectal Cancer 10:

6
(show top 50) (show all 2066)
# Gene Variation Type Significance SNP ID Assembly Location
1 POLD1 NM_001256849.1(POLD1): c.1433G> A (p.Ser478Asn) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs397514632 GRCh37 Chromosome 19, 50909713: 50909713
2 POLD1 NM_001256849.1(POLD1): c.1433G> A (p.Ser478Asn) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs397514632 GRCh38 Chromosome 19, 50406456: 50406456
3 POLD1 NM_001256849.1(POLD1): c.1421T> C (p.Leu474Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs587777627 GRCh38 Chromosome 19, 50406444: 50406444
4 POLD1 NM_001256849.1(POLD1): c.1421T> C (p.Leu474Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs587777627 GRCh37 Chromosome 19, 50909701: 50909701
5 POLD1 NM_001256849.1(POLD1): c.2007-4G> A single nucleotide variant Benign/Likely benign rs202035484 GRCh37 Chromosome 19, 50912772: 50912772
6 POLD1 NM_001256849.1(POLD1): c.2007-4G> A single nucleotide variant Benign/Likely benign rs202035484 GRCh38 Chromosome 19, 50409515: 50409515
7 POLD1 NM_001256849.1(POLD1): c.56G> A (p.Arg19His) single nucleotide variant Benign/Likely benign rs3218773 GRCh37 Chromosome 19, 50902164: 50902164
8 POLD1 NM_001256849.1(POLD1): c.56G> A (p.Arg19His) single nucleotide variant Benign/Likely benign rs3218773 GRCh38 Chromosome 19, 50398907: 50398907
9 POLD1 NM_002691.3(POLD1): c.88C> T (p.Arg30Trp) single nucleotide variant Benign rs3218772 GRCh37 Chromosome 19, 50902196: 50902196
10 POLD1 NM_002691.3(POLD1): c.88C> T (p.Arg30Trp) single nucleotide variant Benign rs3218772 GRCh38 Chromosome 19, 50398939: 50398939
11 POLD1 NM_002691.3(POLD1): c.324G> T (p.Ala108=) single nucleotide variant Benign/Likely benign rs20582 GRCh37 Chromosome 19, 50905042: 50905042
12 POLD1 NM_002691.3(POLD1): c.324G> T (p.Ala108=) single nucleotide variant Benign/Likely benign rs20582 GRCh38 Chromosome 19, 50401785: 50401785
13 POLD1 NM_002691.3(POLD1): c.371T> C (p.Val124Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs199993010 GRCh38 Chromosome 19, 50401832: 50401832
14 POLD1 NM_002691.3(POLD1): c.371T> C (p.Val124Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs199993010 GRCh37 Chromosome 19, 50905089: 50905089
15 POLD1 NM_002691.3(POLD1): c.376C> T (p.Arg126Cys) single nucleotide variant Uncertain significance rs864622753 GRCh38 Chromosome 19, 50401837: 50401837
16 POLD1 NM_002691.3(POLD1): c.376C> T (p.Arg126Cys) single nucleotide variant Uncertain significance rs864622753 GRCh37 Chromosome 19, 50905094: 50905094
17 POLD1 NM_002691.3(POLD1): c.378C> T (p.Arg126=) single nucleotide variant Benign/Likely benign rs145324823 GRCh37 Chromosome 19, 50905096: 50905096
18 POLD1 NM_002691.3(POLD1): c.378C> T (p.Arg126=) single nucleotide variant Benign/Likely benign rs145324823 GRCh38 Chromosome 19, 50401839: 50401839
19 POLD1 NM_002691.3(POLD1): c.384C> T (p.Phe128=) single nucleotide variant Likely benign rs571335388 GRCh38 Chromosome 19, 50401845: 50401845
20 POLD1 NM_002691.3(POLD1): c.384C> T (p.Phe128=) single nucleotide variant Likely benign rs571335388 GRCh37 Chromosome 19, 50905102: 50905102
21 POLD1 NM_002691.3(POLD1): c.433G> A (p.Ala145Thr) single nucleotide variant Benign/Likely benign rs137953986 GRCh37 Chromosome 19, 50905151: 50905151
22 POLD1 NM_002691.3(POLD1): c.433G> A (p.Ala145Thr) single nucleotide variant Benign/Likely benign rs137953986 GRCh38 Chromosome 19, 50401894: 50401894
23 POLD1 NM_002691.3(POLD1): c.463+8_463+9delinsTT indel Benign/Likely benign rs796285537 GRCh37 Chromosome 19, 50905189: 50905190
24 POLD1 NM_002691.3(POLD1): c.463+8_463+9delinsTT indel Benign/Likely benign rs796285537 GRCh38 Chromosome 19, 50401932: 50401933
25 POLD1 NM_002691.3(POLD1): c.496C> T (p.Arg166Trp) single nucleotide variant Uncertain significance rs376236497 GRCh38 Chromosome 19, 50402031: 50402031
26 POLD1 NM_002691.3(POLD1): c.496C> T (p.Arg166Trp) single nucleotide variant Uncertain significance rs376236497 GRCh37 Chromosome 19, 50905288: 50905288
27 POLD1 NM_002691.3(POLD1): c.674G> A (p.Arg225His) single nucleotide variant Uncertain significance rs144979965 GRCh38 Chromosome 19, 50402289: 50402289
28 POLD1 NM_002691.3(POLD1): c.674G> A (p.Arg225His) single nucleotide variant Uncertain significance rs144979965 GRCh37 Chromosome 19, 50905546: 50905546
29 POLD1 NM_002691.3(POLD1): c.714G> A (p.Thr238=) single nucleotide variant Likely benign rs149096523 GRCh38 Chromosome 19, 50402329: 50402329
30 POLD1 NM_002691.3(POLD1): c.714G> A (p.Thr238=) single nucleotide variant Likely benign rs149096523 GRCh37 Chromosome 19, 50905586: 50905586
31 POLD1 NM_002691.3(POLD1): c.773C> T (p.Thr258Met) single nucleotide variant Benign/Likely benign rs76131127 GRCh37 Chromosome 19, 50905725: 50905725
32 POLD1 NM_002691.3(POLD1): c.773C> T (p.Thr258Met) single nucleotide variant Benign/Likely benign rs76131127 GRCh38 Chromosome 19, 50402468: 50402468
33 POLD1 NM_002691.3(POLD1): c.778A> G (p.Ile260Val) single nucleotide variant Benign/Likely benign rs8105725 GRCh38 Chromosome 19, 50402473: 50402473
34 POLD1 NM_002691.3(POLD1): c.778A> G (p.Ile260Val) single nucleotide variant Benign/Likely benign rs8105725 GRCh37 Chromosome 19, 50905730: 50905730
35 POLD1 NM_002691.3(POLD1): c.849G> T (p.Gln283His) single nucleotide variant Benign/Likely benign rs113282414 GRCh38 Chromosome 19, 50402620: 50402620
36 POLD1 NM_002691.3(POLD1): c.849G> T (p.Gln283His) single nucleotide variant Benign/Likely benign rs113282414 GRCh37 Chromosome 19, 50905877: 50905877
37 POLD1 NM_002691.3(POLD1): c.961G> A (p.Gly321Ser) single nucleotide variant Uncertain significance rs41554817 GRCh37 Chromosome 19, 50905989: 50905989
38 POLD1 NM_002691.3(POLD1): c.961G> A (p.Gly321Ser) single nucleotide variant Uncertain significance rs41554817 GRCh38 Chromosome 19, 50402732: 50402732
39 POLD1 NM_002691.3(POLD1): c.1138-8A> G single nucleotide variant Benign/Likely benign rs41544624 GRCh38 Chromosome 19, 50403485: 50403485
40 POLD1 NM_002691.3(POLD1): c.1138-8A> G single nucleotide variant Benign/Likely benign rs41544624 GRCh37 Chromosome 19, 50906742: 50906742
41 POLD1 NM_002691.3(POLD1): c.1275C> T (p.Ala425=) single nucleotide variant Benign/Likely benign rs3219392 GRCh38 Chromosome 19, 50406214: 50406214
42 POLD1 NM_002691.3(POLD1): c.1275C> T (p.Ala425=) single nucleotide variant Benign/Likely benign rs3219392 GRCh37 Chromosome 19, 50909471: 50909471
43 POLD1 NM_002691.3(POLD1): c.1608G> A (p.Ala536=) single nucleotide variant Likely benign rs568549476 GRCh38 Chromosome 19, 50407096: 50407096
44 POLD1 NM_002691.3(POLD1): c.1608G> A (p.Ala536=) single nucleotide variant Likely benign rs568549476 GRCh37 Chromosome 19, 50910353: 50910353
45 POLD1 NM_002691.3(POLD1): c.1620C> T (p.Gly540=) single nucleotide variant Benign/Likely benign rs140216790 GRCh38 Chromosome 19, 50407108: 50407108
46 POLD1 NM_002691.3(POLD1): c.1620C> T (p.Gly540=) single nucleotide variant Benign/Likely benign rs140216790 GRCh37 Chromosome 19, 50910365: 50910365
47 POLD1 NM_002691.3(POLD1): c.1686+10C> T single nucleotide variant Likely benign rs372652150 GRCh38 Chromosome 19, 50407184: 50407184
48 POLD1 NM_002691.3(POLD1): c.1686+10C> T single nucleotide variant Likely benign rs372652150 GRCh37 Chromosome 19, 50910441: 50910441
49 POLD1 NM_002691.3(POLD1): c.1761C> T (p.Ile587=) single nucleotide variant Benign rs3218755 GRCh38 Chromosome 19, 50407401: 50407401
50 POLD1 NM_002691.3(POLD1): c.1761C> T (p.Ile587=) single nucleotide variant Benign rs3218755 GRCh37 Chromosome 19, 50910658: 50910658

Cosmic variations for Colorectal Cancer 10:

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
Sources

Expression for Colorectal Cancer 10

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Search GEO for disease gene expression data for Colorectal Cancer 10.
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Pathways for Colorectal Cancer 10

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GO Terms for Colorectal Cancer 10

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Sources for Colorectal Cancer 10

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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