MCID: CLR034
MIFTS: 41

Colorectal Cancer, Somatic malady

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

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:

64 (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:

6
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-CYBm.14985G> Asingle nucleotide variantPathogenicrs207459995GRCh37Chr MT, 14985: 14985
8MT-CYBm.15572T> Csingle nucleotide variantPathogenicrs207459996GRCh37Chr MT, 15572: 15572
9MT-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

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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
9.9NRAS, FGFR3, AKT1
2
Show member pathways
9.9NRAS, BAX, AKT1
3
Show member pathways
9.9AKT1, BAX, NRAS
49.8AKT1, EP300, BAX
5
Show member pathways
Apoptosis and survival Lymphotoxin beta receptor signaling60
9.8BAX, EP300, AKT1
6
Show member pathways
9.7PIK3CA, NRAS, FGFR3
7
Show member pathways
9.7FGFR3, NRAS, PIK3CA
89.7PIK3CA, EP300, AKT1
9
Show member pathways
IFN-gamma pathway37
9.7AKT1, PIK3CA, EP300
10
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
9.7PIK3CA, AKT1, EP300
11
Show member pathways
9.6APC, EP300, AXIN2, NRAS
129.6APC, AKT1, PIK3CA
139.6PIK3CA, APC, AKT1
14
Show member pathways
Wnt Signaling Pathway NetPath37
9.6AKT1, AXIN2, EP300, APC
15
Show member pathways
9.5NRAS, FGFR3, AKT1, PIK3CA
16
Show member pathways
9.5AKT1, NRAS, FGFR3, PIK3CA
17
Show member pathways
9.5FGFR3, AKT1, PIK3CA, NRAS
18
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
9.5PIK3CA, AKT1, NRAS, BAX
199.5BAX, EP300, PIK3CA, NRAS
20
Show member pathways
9.5BAX, FGFR3, NRAS, AKT1, EP300
21
Show member pathways
9.5BAX, EP300, AKT1, NRAS, FGFR3
229.5NRAS, PIK3CA, EP300, AKT1
23
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
9.5AKT1, EP300, PIK3CA, NRAS
24
Show member pathways
9.4APC, NRAS, FGFR3, PIK3CA
25
Show member pathways
DNA damage response (only ATM dependent)37
Wnt Signaling Pathway and Pluripotency37
9.4AKT1, APC, AXIN2, BAX, EP300
26
Show member pathways
9.3BAX, NRAS, AKT1, FGFR3, PIK3CA
27
Show member pathways
9.3BAX, FGFR3, AKT1, NRAS, PIK3CA
289.3DCC, BAX, APC, AKT1, AXIN2
299.3EP300, AXIN2, APC, MT-CO2
30
Show member pathways
9.3FGFR3, AKT1, BAX, NRAS, PLA2G2A
31
Show member pathways
Signaling Pathways in Glioblastoma37
9.3EP300, PIK3CA, FGFR3, AKT1, NRAS
32
Show member pathways
9.3PLA2G2A, AKT1, NRAS, PIK3CA
33
Show member pathways
Toll-like receptor signaling pathway37
Regulation of toll-like receptor signaling pathway37
9.3BAX, EP300, PIK3CA, NRAS, AKT1
34
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
9.3EP300, NRAS, BAX, AKT1, PIK3CA
35
Show member pathways
9.3EP300, PLA2G2A, FGFR3, NRAS, AKT1
369.2NRAS, EP300, FGFR3, APC, PIK3CA
379.2PIK3CA, NRAS, EP300, FLCN, AKT1
38
Show member pathways
9.2NRAS, AKT1, DCC, FGFR3, PLA2G2A
39
Show member pathways
9.2EP300, APC, AKT1, BAX, FGFR3, NRAS
40
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I60
9.2DCC, BUB1B, BAX, AKT1, APC
41
Show member pathways
9.1FGFR3, NRAS, PIK3CA, AKT1, PLA2G2A
42
Show member pathways
9.1EP300, FGFR3, BAX, NRAS, PLA2G2A, AKT1
43
Show member pathways
9.1AKT1, EP300, PLA2G2A, NRAS, BAX, FGFR3
44
Show member pathways
Signal transduction PTEN pathway60
8.8PIK3CA, BAX, APC, DCC, AKT1, NRAS
458.7MT-CO1, MT-CO2, MT-CYB
468.7BUB1B, APC, EP300, BAX, AKT1, NRAS
478.6PIK3CA, BUB1B, APC, DCC, EP300, AKT1
488.4EP300, PIK3CA, APC, AKT1, NRAS, AXIN2
49
Show member pathways
7.0BAX, MT-CO2, MT-CYB, MT-ND4L, MT-CO1, AKT1
50
Show member pathways
6.8MT-CO2, PIK3CA, EP300, PLA2G2A, AKT1, MT-CO1

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 61 28 50 24 1115.2APC, AKT1, BAX
5adriamycin4410.1EP300, BAX, AKT1
6troglitazone44 28 61 1113.1EP300, AKT1, BAX
7c2ceramide4410.1BAX, PLA2G2A, AKT1
8lysophospholipid4410.0AKT1, PLA2G2A
9resveratrol44 61 24 1113.0PIK3CA, BAX, EP300
10nocodazole44 1111.0AKT1, BUB1B, APC
11curcumin4410.0BAX, APC, EP300, AKT1
12everolimus44 50 1111.9PIK3CA, AKT1
138-oxoguanine449.9APC, EP300
14paraffin449.9FGFR3, BAX, AKT1, APC
15ptdins(3)p449.9PIK3CA, AKT1
16etoposide44 50 61 1112.9PIK3CA, EP300, AKT1, BAX
17tamoxifen44 50 28 1112.9PIK3CA, AKT1, BAX, EP300
18pd 98,059449.8EP300, PIK3CA, BAX, AKT1
19glycogen44 2410.8AXIN2, AKT1, APC, PIK3CA
20paclitaxel44 50 1111.8BUB1B, BAX, AKT1, PIK3CA
21quercetin44 61 24 1112.7PLA2G2A, AKT1, PIK3CA, BAX
22ceramide449.7PLA2G2A, AKT1, PIK3CA, BAX
23rapamycin449.7AKT1, FLCN, APC, PIK3CA
24wortmannin449.6BAX, PIK3CA, AKT1, APC, EP300
25inositol449.6PLA2G2A, PIK3CA, AKT1
26genistein44 28 61 2 24 1114.6PIK3CA, AKT1, BAX, PLA2G2A
27nmda44 2810.6PIK3CA, AKT1, PLA2G2A, APC
28ly294002449.5PLA2G2A, PIK3CA, EP300, AKT1, BAX
29actinomycin d449.5PIK3CA, EP300, AKT1, PLA2G2A, BAX
30phosphatidylinositol449.5PIK3CA, EP300, BAX, AKT1, APC
31doxorubicin44 50 1111.4AKT1, PIK3CA, BUB1B, EP300, BAX, FGFR3
32arginine449.4PIK3CA, EP300, AKT1, PLA2G2A, FGFR3
33vegf449.3EP300, FGFR3, PLA2G2A, PIK3CA, BAX, AKT1
34adp44 28 2411.3PIK3CA, AKT1, APC, BUB1B, FGFR3
35gtp44 2810.3APC, AKT1, MT-CYB, PIK3CA
36pge2449.3MT-CO2, APC, EP300, AKT1, PLA2G2A
37cycloheximide449.3APC, AKT1, MT-CYB, BAX, PLA2G2A
38retinoic acid44 2410.2PLA2G2A, EP300, APC, BAX, AKT1, PIK3CA
39h2o2449.2BAX, PLA2G2A, MT-CYB, AKT1, PIK3CA
40nadph44 2410.2PLA2G2A, PIK3CA, EP300, AKT1, MT-CYB
41cholic acid44 28 24 1112.1MT-CYB, MT-CO1, MT-CO2
42dopamine44 28 24 1112.1PIK3CA, PLA2G2A, AKT1, APC
43glutamate449.1PLA2G2A, FGFR3, MT-CYB, AKT1, PIK3CA
44threonine449.0EP300, PIK3CA, AKT1, MT-CYB, AXIN2, FGFR3
45lipid448.8FGFR3, MT-CYB, APC, PIK3CA, PLA2G2A, AKT1
46serine448.5FGFR3, PLA2G2A, AKT1, EP300, APC, PIK3CA
47hydrogen44 249.5MT-CO1, APC, MT-CO2, MT-CYB
48nadh44 24 1110.4MT-CO2, MT-CYB, MT-ND4L, MT-CO1
49glucose448.4AKT1, MT-CO1, EP300, APC, PIK3CA, MT-CYB
50copper44 249.4MT-CYB, MT-CO1, MT-CO2

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet