MCID: CLN045
MIFTS: 43

Colonic Benign Neoplasm

Categories: Cancer diseases, Gastrointestinal diseases

Aliases & Classifications for Colonic Benign Neoplasm

MalaCards integrated aliases for Colonic Benign Neoplasm:

Name: Colonic Benign Neoplasm 12 15
Neoplasm of the Colon 29 6
Neoplasm of Colon 12
Colonic Neoplasms 73
Colon Neoplasm 12
Colonic Tumor 12
Cancer, Colon 40
Colonic Mass 12

Classifications:



External Ids:

Disease Ontology 12 DOID:235
MeSH 44 D003110
NCIt 50 C2953
ICD10 33 C18
UMLS 73 C0009375

Summaries for Colonic Benign Neoplasm

Disease Ontology : 12 An intestinal benign neoplasm that is located in the colon.

MalaCards based summary : Colonic Benign Neoplasm, also known as neoplasm of the colon, is related to lynch syndrome and sigmoid neoplasm. An important gene associated with Colonic Benign Neoplasm is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Development HGF signaling pathway and G-protein signaling RAC1 in cellular process. The drug Iressa has been mentioned in the context of this disorder. Affiliated tissues include colon, lung and kidney, and related phenotypes are endocrine/exocrine gland and digestive/alimentary

Related Diseases for Colonic Benign Neoplasm

Diseases related to Colonic Benign Neoplasm via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 148)
# Related Disease Score Top Affiliating Genes
1 lynch syndrome 32.2 BRAF CTNNB1 KRAS
2 sigmoid neoplasm 31.7 CEACAM5 KRAS
3 colorectal cancer 31.7 AREG BRAF CEACAM5 CTNNB1 HPGD KRAS
4 familial adenomatous polyposis 29.9 CTNNB1 KRAS PTGS2
5 hyperplastic polyposis syndrome 29.8 BRAF KRAS
6 adenocarcinoma 29.6 BRAF CTNNB1 KRAS PTGS2
7 adenoma 29.6 BRAF CTNNB1 KRAS PTGS2
8 gallbladder cancer 29.3 CEACAM5 KRAS PTGS2
9 large intestine cancer 29.3 AREG BRAF CEACAM5 CTNNB1 HPGD KRAS
10 colorectal adenocarcinoma 29.2 BRAF CEACAM5 CTNNB1 KRAS PTGS2
11 lung cancer susceptibility 3 29.1 BRAF CEACAM5 CTNNB1 KRAS PTGS2
12 colonic disease 28.9 AREG CEACAM5 CTNNB1 KRAS LGR5 PTGS2
13 neuroendocrine tumor of the colon 11.2
14 colon adenoma 11.2
15 lynch syndrome i 11.0
16 colorectal cancer, hereditary nonpolyposis, type 2 11.0
17 colorectal cancer, hereditary nonpolyposis, type 8 11.0
18 colorectal cancer, hereditary nonpolyposis, type 6 11.0
19 colorectal cancer, hereditary nonpolyposis, type 4 11.0
20 colorectal cancer, hereditary nonpolyposis, type 5 11.0
21 colorectal cancer, hereditary nonpolyposis, type 7 11.0
22 colon squamous cell carcinoma 10.4
23 familial colorectal cancer type x 10.3
24 papillary craniopharyngioma 10.2 BRAF CTNNB1
25 syringocystadenoma papilliferum 10.2 BRAF KRAS
26 mature teratoma 10.1 BRAF KRAS
27 apocrine adenoma 10.1 CEACAM5 KRAS
28 clear cell adenoma 10.1 CEACAM5 CTNNB1
29 colorectal adenoma 10.1 CTNNB1 KRAS PTGS2
30 pilocytic astrocytoma 10.1 BRAF KRAS
31 pancreatic cystadenocarcinoma 10.1 CEACAM5 KRAS
32 aggressive digital papillary adenocarcinoma 10.1 CEACAM5 KRAS
33 colitis 10.1
34 reproductive system disease 10.1 AREG CTNNB1 PTGS2
35 juvenile polyposis syndrome 10.1
36 familial adenomatous polyposis 1 10.1
37 polyposis, skin pigmentation, alopecia, and fingernail changes 10.1
38 familial adenomatous polyposis 2 10.1
39 familial adenomatous polyposis 3 10.1
40 appendix cancer 10.1
41 descending colon cancer 10.1
42 splenic flexure cancer 10.1
43 cecal benign neoplasm 10.1
44 ascending colon cancer 10.1
45 hepatic flexure cancer 10.1
46 transverse colon cancer 10.1
47 attenuated familial adenomatous polyposis 10.1
48 goblet cell carcinoid 10.1
49 cap polyposis 10.1
50 hereditary mixed polyposis syndrome 10.1

Graphical network of the top 20 diseases related to Colonic Benign Neoplasm:



Diseases related to Colonic Benign Neoplasm

Symptoms & Phenotypes for Colonic Benign Neoplasm

MGI Mouse Phenotypes related to Colonic Benign Neoplasm:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.91 AREG BRAF CCDC80 CTNNB1 HPGD KRAS
2 digestive/alimentary MP:0005381 9.87 AREG BRAF CCDC80 CTNNB1 KRAS LGR5
3 growth/size/body region MP:0005378 9.81 AREG BRAF CCDC80 CTNNB1 KRAS LGR5
4 neoplasm MP:0002006 9.43 BRAF CCDC80 CTNNB1 KRAS LGR5 PTGS2
5 reproductive system MP:0005389 9.17 AREG BRAF CCDC80 CTNNB1 HPGD KRAS

Drugs & Therapeutics for Colonic Benign Neoplasm

FDA approved drugs:

# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Iressa 18 49 GEFITINIB AstraZeneca May 2003

Search Clinical Trials , NIH Clinical Center for Colonic Benign Neoplasm

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Colonic Benign Neoplasm

Genetic tests related to Colonic Benign Neoplasm:

# Genetic test Affiliating Genes
1 Neoplasm of the Colon 29

Anatomical Context for Colonic Benign Neoplasm

MalaCards organs/tissues related to Colonic Benign Neoplasm:

41
Colon, Lung, Kidney, Bone, Heart, Ovary, Appendix

The Foundational Model of Anatomy Ontology organs/tissues related to Colonic Benign Neoplasm:

19
The Colon

Publications for Colonic Benign Neoplasm

Articles related to Colonic Benign Neoplasm:

# Title Authors Year
1
Perivascular epithelioid cell neoplasm of the colon. ( 21160599 )
2010
2
TESTS OF HEPATIC FUNCTION IN CARCINOMA; THEIR VALUE IN CASES OF NEOPLASM OF THE COLON WITH AND WITHOUT METASTASIS TO THE LIVER. ( 17866259 )
1930

Variations for Colonic Benign Neoplasm

ClinVar genetic disease variations for Colonic Benign Neoplasm:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BRAF NM_004333.4(BRAF): c.1799T> A (p.Val600Glu) single nucleotide variant Pathogenic rs113488022 GRCh37 Chromosome 7, 140453136: 140453136
2 BRAF NM_004333.4(BRAF): c.1799T> A (p.Val600Glu) single nucleotide variant Pathogenic rs113488022 GRCh38 Chromosome 7, 140753336: 140753336
3 BRAF NM_004333.4(BRAF): c.1799T> A (p.Val600Glu) single nucleotide variant Pathogenic rs113488022 NCBI36 Chromosome 7, 140099605: 140099605
4 TP53 NM_000546.5(TP53): c.1060C> A (p.Gln354Lys) single nucleotide variant Uncertain significance rs755394212 GRCh37 Chromosome 17, 7573967: 7573967
5 TP53 NM_000546.5(TP53): c.1060C> A (p.Gln354Lys) single nucleotide variant Uncertain significance rs755394212 GRCh38 Chromosome 17, 7670649: 7670649
6 BRAF NM_004333.4(BRAF): c.1799_1800delTGinsAA (p.Val600Glu) indel Likely pathogenic rs121913377 GRCh37 Chromosome 7, 140453135: 140453136
7 BRAF NM_004333.4(BRAF): c.1799_1800delTGinsAA (p.Val600Glu) indel Likely pathogenic rs121913377 GRCh38 Chromosome 7, 140753335: 140753336
8 ERBB3 NM_001982.3(ERBB3): c.850G> A (p.Gly284Arg) single nucleotide variant Likely pathogenic rs1057519803 GRCh37 Chromosome 12, 56481922: 56481922
9 ERBB3 NM_001982.3(ERBB3): c.850G> A (p.Gly284Arg) single nucleotide variant Likely pathogenic rs1057519803 GRCh38 Chromosome 12, 56088138: 56088138

Expression for Colonic Benign Neoplasm

Search GEO for disease gene expression data for Colonic Benign Neoplasm.

Pathways for Colonic Benign Neoplasm

Pathways related to Colonic Benign Neoplasm according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 BRAF CTNNB1 KRAS PTGS2
2
Show member pathways
12.07 AREG BRAF CTNNB1 KRAS
3
Show member pathways
12.04 AREG BRAF CTNNB1 KRAS
4
Show member pathways
11.94 AREG KRAS SMURF1
5 11.82 BRAF CTNNB1 KRAS
6
Show member pathways
11.64 BRAF CTNNB1 KRAS PTGS2
7 11.6 BRAF KRAS PTGS2
8 11.54 BRAF CTNNB1 KRAS
9 11.31 BRAF KRAS SMURF1
10 11.14 BRAF CTNNB1 KRAS PTGS2
11 11.01 CTNNB1 KRAS
12 11 HPGD PTGS2
13 10.93 BRAF KRAS
14 10.79 HPGD PTGS2

GO Terms for Colonic Benign Neoplasm

Biological processes related to Colonic Benign Neoplasm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 long-chain fatty acid biosynthetic process GO:0042759 9.48 HPGD PTGS2
2 prostaglandin metabolic process GO:0006693 9.46 HPGD PTGS2
3 protein localization to cell surface GO:0034394 9.43 CTNNB1 SMURF1
4 epithelial tube branching involved in lung morphogenesis GO:0060441 9.4 CTNNB1 KRAS
5 lipoxygenase pathway GO:0019372 9.37 HPGD PTGS2
6 response to glucocorticoid GO:0051384 9.33 AREG KRAS PTGS2
7 ectoderm development GO:0007398 9.32 CTNNB1 SMURF1
8 ovulation GO:0030728 9.26 HPGD PTGS2
9 regulation of cell proliferation GO:0042127 9.26 BRAF CTNNB1 LGR5 PTGS2
10 response to estradiol GO:0032355 8.92 AREG CTNNB1 HPGD PTGS2

Molecular functions related to Colonic Benign Neoplasm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 I-SMAD binding GO:0070411 8.62 CTNNB1 SMURF1

Sources for Colonic Benign Neoplasm

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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