MCID: CLR034
MIFTS: 40

Colorectal Cancer, Somatic malady

Genetic diseases (common), Cancer diseases categories

Summaries for Colorectal Cancer, Somatic

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MalaCards based summary: Colorectal Cancer, Somatic is related to colorectal cancer and birt-hogg-dube syndrome. An important gene associated with Colorectal Cancer, Somatic is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are VEGF Signaling Pathway and Ceramide Pathway. The compounds samp and exisulind have been mentioned in the context of this disorder. Related mouse phenotypes are limbs/digits/tail and normal.

Description from OMIM:46 114500

Aliases & Classifications for Colorectal Cancer, Somatic

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Colorectal Cancer, Somatic, Aliases & Descriptions:

Name: Colorectal Cancer, Somatic 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common), Cancer diseases


Related Diseases for Colorectal Cancer, Somatic

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Diseases related to Colorectal Cancer, Somatic via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer31.0PIK3CA, APC, MCC, EP300, BAX, FGFR3
2birt-hogg-dube syndrome10.5FLCN
3epidermal nevus, somatic10.4FGFR3, PIK3CA
4seborrheic keratosis10.4FGFR3, PIK3CA
5ovarian cancer, somatic10.4AKT1, PIK3CA
6acute promyelocytic leukemia10.3BAX, NRAS, EP300
7gastric cancer, somatic10.3PIK3CA, APC
8lynch syndrome10.3MLH3, APC, NRAS
9gallbladder cancer10.3NRAS, APC
10neuroblastoma10.2AKT1
11endometrial carcinoma10.2PIK3CA, EP300, AKT1, BAX
12thyroid hurthle cell carcinoma10.2PIK3CA, APC, FGFR3
13cervical cancer10.2FGFR3, BAX, EP300, PIK3CA
14medulloblastoma10.2AXIN2, AKT1, APC, PIK3CA
15breast cancer10.1PIK3CA, APC, EP300, AKT1
16gastric adenocarcinoma10.1BAX, APC, PIK3CA
17familial adenomatous polyposis10.1APC, MCC, PLA2G2A, NRAS, AXIN2
18stomach cancer10.1PIK3CA, APC, AKT1, BAX, FGFR3
19adenoma10.1APC, PLA2G2A, NRAS, BAX, AXIN2
20cytochrome-c oxidase deficiency disease10.0MT-CO2, MT-CO1
21non-small cell lung carcinoma10.0PIK3CA, APC, MCC, AKT1, BAX
22ovarian cancer10.0PIK3CA, BUB1B, AKT1, NRAS, BAX
23pancreatic cancer10.0PIK3CA, AKT1, PLA2G2A, NRAS, BAX
24alzheimer's disease10.0EP300, AKT1, PLA2G2A, BAX, FGFR3
25parkinson's disease10.0AKT1, MT-CYB, PLA2G2A, BAX
26retinoblastoma10.0PIK3CA, APC, EP300, AKT1, BAX, FGFR3
27colonic benign neoplasm10.0PIK3CA, APC, EP300, AKT1, BAX, AXIN2
28liver cancer10.0BAX, DLC1, AKT1, APC, PIK3CA
29kidney cancer10.0PIK3CA, FLCN, AKT1, BAX
30mitochondrial disorders10.0MT-ND4L, MT-CYB, MT-CO2
31burkitt's lymphoma10.0PIK3CA, EP300, AKT1, PLA2G2A, BAX, FGFR3
32lung cancer9.9PIK3CA, BUB1B, MCC, AKT1, BAX
33leber hereditary optic neuropathy9.9MT-CO1, MT-CYB
34melanoma9.9PIK3CA, EP300, AKT1, PLA2G2A, NRAS, BAX
35adenocarcinoma9.9PIK3CA, APC, EP300, AKT1, PLA2G2A, BAX
36leukemia9.9PIK3CA, EP300, AKT1, PLA2G2A, NRAS, BAX
37osteosarcoma9.8BAX, MT-CO2, MT-CO1, EP300
38ischemia9.8PIK3CA, AKT1, MT-CO1, PLA2G2A, BAX
39tongue squamous cell carcinoma9.5PIK3CA, APC, EP300, AKT1, MT-CO1, MT-CO2
40prostate cancer9.4PIK3CA, APC, EP300, AKT1, MT-CO1, PLA2G2A

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



Diseases related to colorectal cancer, somatic

Symptoms for Colorectal Cancer, Somatic

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Clinical features from OMIM:

114500

Drugs & Therapeutics for Colorectal Cancer, Somatic

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Drug clinical trials:

Search ClinicalTrials for Colorectal Cancer, Somatic

Search NIH Clinical Center for Colorectal Cancer, Somatic

Genetic Tests for Colorectal Cancer, Somatic

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Anatomical Context for Colorectal Cancer, Somatic

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Animal Models for Colorectal Cancer, Somatic or affiliated genes

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Publications for Colorectal Cancer, Somatic

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Variations for Colorectal Cancer, Somatic

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

63 (show all 17)
id Symbol AA change Variation ID SNP ID
1BRAFp.Arg462IleVAR_018613
2BRAFp.Ile463SerVAR_018614
3BRAFp.Gly464GluVAR_018615
4BRAFp.Val600GluVAR_018629
5BRAFp.Lys601GluVAR_018630
6CTNNB1p.Ser33TyrVAR_017619
7MT-CO1p.Gly125AspVAR_064154
8MT-CO1p.Ser458ProVAR_064155
9PDGFRLp.His23TyrVAR_026052
10PIK3CAp.Arg38HisVAR_026166
11PIK3CAp.Gly106ValVAR_026168
12PIK3CAp.Cys420ArgVAR_026171
13PIK3CAp.Glu453GlnVAR_026172
14PIK3CAp.Glu542LysVAR_026173
15PIK3CAp.Glu545LysVAR_026178
16PIK3CAp.Met1043IleVAR_026190
17PIK3CAp.His1047ArgVAR_026192

Clinvar genetic disease variations for Colorectal Cancer, Somatic:

7
id Gene Name Type Significance SNP ID Assembly Location
1TP53NM_000546.5(TP53): c.974G> T (p.Gly325Val)single nucleotide variantPathogenicrs121912659GRCh37Chr 17, 7576872: 7576872
2TP53NM_000546.5(TP53): c.566C> T (p.Ala189Val)single nucleotide variantPathogenicrs121912665GRCh37Chr 17, 7578283: 7578283
3PLA2G2ANM_000300.3(PLA2G2A): c.144_145delTG (p.Cys48Trpfs)deletionPathogenicGRCh37Chr 1, 20304913: 20304914
4MT-CO2m.8009G> Asingle nucleotide variantPathogenicrs199474826GRCh37Chr MT, 8009: 8009
5MT-CO1m.6264G> Asingle nucleotide variantPathogenicrs267606882GRCh37Chr MT, 6264: 6264
6MT-CO1m.6277G> Asingle nucleotide variantPathogenicGRCh37Chr MT, 6277: 6277
7MT-CO1m.7275T> Csingle nucleotide variantPathogenicGRCh37Chr MT, 7275: 7275
8MT-CYBm.14985G> Asingle nucleotide variantPathogenicrs207459995GRCh37Chr MT, 14985: 14985
9MT-CYBm.15572T> Csingle nucleotide variantPathogenicrs207459996GRCh37Chr MT, 15572: 15572
10MT-ND4Lm.10563T> Csingle nucleotide variantPathogenicrs267606892GRCh37Chr MT, 10563: 10563

Expression for genes affiliated with Colorectal Cancer, Somatic

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Expression patterns in normal tissues for genes affiliated with Colorectal Cancer, Somatic

Search GEO for disease gene expression data for Colorectal Cancer, Somatic.

Pathways for genes affiliated with Colorectal Cancer, Somatic

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Pathways related to Colorectal Cancer, Somatic according to GeneCards/GeneDecks:

(show top 50)    (show all 86)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9AKT1, NRAS, FGFR3
2
Show member pathways
9.9AKT1, NRAS, BAX
3
Show member pathways
9.9BAX, NRAS, AKT1
49.8EP300, AKT1, BAX
5
Show member pathways
Apoptosis and survival Lymphotoxin beta receptor signaling59
9.8BAX, AKT1, EP300
6
Show member pathways
9.7FGFR3, NRAS, PIK3CA
7
Show member pathways
9.7FGFR3, NRAS, PIK3CA
8
Show member pathways
IFN-gamma pathway37
9.7PIK3CA, EP300, AKT1
9
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
9.7AKT1, EP300, PIK3CA
109.7PIK3CA, EP300, AKT1
11
Show member pathways
9.6APC, EP300, NRAS, AXIN2
129.6PIK3CA, APC, AKT1
139.6PIK3CA, APC, AKT1
14
Show member pathways
Wnt Signaling Pathway NetPath37
9.6APC, EP300, AKT1, AXIN2
15
Show member pathways
9.5FGFR3, NRAS, AKT1, PIK3CA
16
Show member pathways
9.5PIK3CA, AKT1, NRAS, FGFR3
17
Show member pathways
9.5PIK3CA, AKT1, NRAS, FGFR3
18
Show member pathways
Development EGFR signaling via PIP359
Development PDGF signaling via MAPK cascades59
Apoptosis and survival Anti apoptotic action of membrane bound ESR159
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases59
Development Neurotrophin family signaling59
Apoptosis and survival NGF signaling pathway59
Apoptosis and survival Role of CDK5 in neuronal death and survival59
9.5PIK3CA, AKT1, NRAS, BAX
199.5PIK3CA, EP300, NRAS, BAX
20
Show member pathways
9.5EP300, AKT1, NRAS, BAX, FGFR3
21
Show member pathways
9.5EP300, AKT1, NRAS, BAX, FGFR3
229.5PIK3CA, EP300, AKT1, NRAS
23
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
9.5PIK3CA, EP300, AKT1, NRAS
24
Show member pathways
9.4FGFR3, NRAS, APC, PIK3CA
25
Show member pathways
DNA damage response (only ATM dependent)37
Wnt Signaling Pathway and Pluripotency37
9.4APC, EP300, AKT1, BAX, AXIN2
26
Show member pathways
9.3FGFR3, BAX, NRAS, AKT1, PIK3CA
27
Show member pathways
9.3PIK3CA, AKT1, NRAS, BAX, FGFR3
289.3APC, DCC, AKT1, BAX, AXIN2
299.3APC, EP300, MT-CO2, AXIN2
30
Show member pathways
9.3FGFR3, BAX, NRAS, PLA2G2A, AKT1
31
Show member pathways
Signaling Pathways in Glioblastoma37
9.3FGFR3, NRAS, AKT1, EP300, PIK3CA
32
Show member pathways
9.3NRAS, PLA2G2A, AKT1, PIK3CA
33
Show member pathways
Toll-like receptor signaling pathway37
Regulation of toll-like receptor signaling pathway37
9.3BAX, NRAS, AKT1, EP300, PIK3CA
34
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling59
Leptin signaling pathway37
9.3PIK3CA, EP300, AKT1, NRAS, BAX
35
Show member pathways
9.3EP300, AKT1, PLA2G2A, NRAS, FGFR3
369.2PIK3CA, APC, EP300, NRAS, FGFR3
379.2PIK3CA, FLCN, EP300, AKT1, NRAS
38
Show member pathways
9.2DCC, AKT1, PLA2G2A, NRAS, FGFR3
39
Show member pathways
9.2APC, EP300, AKT1, NRAS, BAX, FGFR3
40
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I59
9.2BUB1B, APC, DCC, AKT1, BAX
41
Show member pathways
9.1PIK3CA, AKT1, PLA2G2A, NRAS, FGFR3
42
Show member pathways
9.1EP300, AKT1, PLA2G2A, NRAS, BAX, FGFR3
43
Show member pathways
9.1FGFR3, BAX, NRAS, PLA2G2A, AKT1, EP300
44
Show member pathways
Signal transduction PTEN pathway59
8.8PIK3CA, APC, DCC, AKT1, NRAS, BAX
458.7MT-CO2, MT-CYB, MT-CO1
468.7PIK3CA, BUB1B, APC, EP300, AKT1, NRAS
478.6PIK3CA, BUB1B, APC, DCC, EP300, AKT1
488.4FGFR3, PIK3CA, APC, DCC, EP300, AKT1
49
Show member pathways
7.0PIK3CA, EP300, AKT1, MT-CO1, MT-ND4L, MT-CYB
50
Show member pathways
6.8PIK3CA, EP300, AKT1, MT-CO1, MT-ND4L, MT-CYB

Compounds for genes affiliated with Colorectal Cancer, Somatic

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Compounds related to Colorectal Cancer, Somatic according to GeneCards/GeneDecks:

(show top 50)    (show all 53)
idCompoundScoreTop Affiliating Genes
1samp4410.4APC, AXIN2
2exisulind4410.3BAX, APC
3mononucleotide4410.2BAX, APC
4celecoxib44 60 29 50 25 1215.2BAX, AKT1, APC
5adriamycin4410.1BAX, AKT1, EP300
6troglitazone44 29 60 1213.1BAX, AKT1, EP300
7c2ceramide4410.1BAX, PLA2G2A, AKT1
8lysophospholipid4410.0PLA2G2A, AKT1
9resveratrol44 60 25 1213.0PIK3CA, EP300, BAX
10nocodazole44 1211.0BUB1B, APC, AKT1
11curcumin4410.0APC, EP300, AKT1, BAX
12everolimus44 50 1211.9PIK3CA, AKT1
138-oxoguanine449.9EP300, APC
14paraffin449.9FGFR3, BAX, AKT1, APC
15ptdins(3)p449.9PIK3CA, AKT1
16etoposide44 50 60 1212.9PIK3CA, EP300, AKT1, BAX
17tamoxifen44 50 29 1212.9PIK3CA, EP300, AKT1, BAX
18pd 98,059449.8PIK3CA, EP300, AKT1, BAX
19glycogen44 2510.8AXIN2, AKT1, APC, PIK3CA
20paclitaxel44 50 1211.8BAX, AKT1, BUB1B, PIK3CA
21quercetin44 60 25 1212.7PIK3CA, AKT1, PLA2G2A, BAX
22ceramide449.7BAX, PLA2G2A, AKT1, PIK3CA
23rapamycin449.7PIK3CA, APC, FLCN, AKT1
24wortmannin449.6PIK3CA, APC, EP300, AKT1, BAX
25inositol449.6PLA2G2A, AKT1, PIK3CA
26genistein44 29 60 3 25 1214.6PIK3CA, AKT1, PLA2G2A, BAX
27nmda44 2910.6PLA2G2A, AKT1, APC, PIK3CA
28ly294002449.5PIK3CA, EP300, AKT1, PLA2G2A, BAX
29actinomycin d449.5BAX, PLA2G2A, AKT1, EP300, PIK3CA
30phosphatidylinositol449.5PIK3CA, APC, EP300, AKT1, BAX
31doxorubicin44 50 1211.4FGFR3, BAX, AKT1, EP300, BUB1B, PIK3CA
32arginine449.4PIK3CA, EP300, AKT1, PLA2G2A, FGFR3
33vegf449.3PIK3CA, EP300, AKT1, PLA2G2A, BAX, FGFR3
34adp44 29 2511.3PIK3CA, BUB1B, APC, AKT1, FGFR3
35gtp44 2910.3PIK3CA, APC, AKT1, MT-CYB
36pge2449.3APC, EP300, AKT1, MT-CO2, PLA2G2A
37cycloheximide449.3APC, AKT1, MT-CYB, PLA2G2A, BAX
38retinoic acid44 2510.2PIK3CA, APC, EP300, AKT1, PLA2G2A, BAX
39h2o2449.2PIK3CA, AKT1, MT-CYB, PLA2G2A, BAX
40nadph44 2510.2PIK3CA, EP300, AKT1, MT-CYB, PLA2G2A
41cholic acid44 29 25 1212.1MT-CO2, MT-CYB, MT-CO1
42dopamine44 29 25 1212.1PIK3CA, APC, AKT1, PLA2G2A
43glutamate449.1PIK3CA, AKT1, MT-CYB, PLA2G2A, FGFR3
44threonine449.0PIK3CA, APC, EP300, AKT1, MT-CYB, AXIN2
45lipid448.8PIK3CA, APC, AKT1, MT-CYB, PLA2G2A, FGFR3
46serine448.5PIK3CA, APC, EP300, AKT1, MT-CYB, PLA2G2A
47hydrogen44 259.5APC, MT-CO1, MT-CYB, MT-CO2
48nadh44 25 1210.4MT-CO1, MT-ND4L, MT-CYB, MT-CO2
49glucose448.4PIK3CA, APC, EP300, AKT1, MT-CO1, MT-CYB
50copper44 259.4MT-CO2, MT-CYB, MT-CO1

GO Terms for genes affiliated with Colorectal Cancer, Somatic

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Cellular components related to Colorectal Cancer, Somatic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1beta-catenin destruction complexGO:03087710.0AXIN2, APC
2lamellipodiumGO:0300279.2PIK3CA, APC, MCC
3plasma membraneGO:0058868.2PIK3CA, APC, DCC, MCC, FLCN, AKT1
4nucleusGO:0056348.2APC, MCC, FLCN, EP300, AKT1, DLC1

Biological processes related to Colorectal Cancer, Somatic according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of Rho protein signal transductionGO:03502410.1DLC1, FLCN
2response to axon injuryGO:04867810.1FGFR3, BAX
3striated muscle cell differentiationGO:05114610.1NRAS, AKT1
4metaphase/anaphase transition of mitotic cell cycleGO:00709110.1APC, BUB1B
5apoptotic mitochondrial changesGO:00863710.0BAX, AKT1
6protein kinase B signalingGO:04349110.0PIK3CA, EP300, AKT1
7positive regulation of protein phosphorylationGO:0019349.9FLCN, EP300, AKT1, AXIN2
8negative regulation of canonical Wnt signaling pathwayGO:0900909.9AXIN2, MCC, APC
9insulin receptor signaling pathwayGO:0082869.8PIK3CA, AKT1, NRAS, FGFR3
10fibroblast growth factor receptor signaling pathwayGO:0085439.8FGFR3, NRAS, AKT1, PIK3CA
11Fc-epsilon receptor signaling pathwayGO:0380959.8PIK3CA, AKT1, NRAS, FGFR3
12positive regulation of cell deathGO:0109429.8AXIN2, EP300
13epidermal growth factor receptor signaling pathwayGO:0071739.8PIK3CA, AKT1, NRAS, FGFR3
14negative regulation of neuron apoptotic processGO:0435249.7PIK3CA, NRAS, BAX
15neurotrophin TRK receptor signaling pathwayGO:0480119.7PIK3CA, AKT1, NRAS, FGFR3
16phosphatidylinositol-mediated signalingGO:0480159.7FGFR3, AKT1, BUB1B, PIK3CA
17positive regulation of apoptotic processGO:0430659.6BAX, AKT1, FLCN, DCC, APC
18innate immune responseGO:0450879.4PIK3CA, EP300, AKT1, NRAS, FGFR3
19apoptotic processGO:0069159.1BAX, DLC1, AKT1, EP300, DCC, APC

Molecular functions related to Colorectal Cancer, Somatic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complex bindingGO:0324039.8NRAS, EP300, FLCN
2beta-catenin bindingGO:0080139.5APC, EP300, AXIN2
3protein bindingGO:0055157.1FGFR3, PIK3CA, MLH3, BUB1B, APC, DCC

Products for genes affiliated with Colorectal Cancer, Somatic

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  • Antibodies
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Sources for Colorectal Cancer, Somatic

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet