MCID: FML053
MIFTS: 40

Familial Colorectal Cancer

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

Aliases & Classifications for Familial Colorectal Cancer

MalaCards integrated aliases for Familial Colorectal Cancer:

Name: Familial Colorectal Cancer 53 29 6
Colorectal Cancer, Familial 53

Classifications:



Summaries for Familial Colorectal Cancer

NIH Rare Diseases : 53 Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered "hereditary" and is thought to be caused by an inherited predisposition to colon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC, MYH, MLH1, MSH2, MSH6, PMS2, EPCAM, PTEN, STK11, SMAD4, BMPR1A, NTHL1, POLE, and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle.High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.

MalaCards based summary : Familial Colorectal Cancer, also known as colorectal cancer, familial, is related to lynch syndrome and mutyh-associated polyposis. An important gene associated with Familial Colorectal Cancer is APC (APC, WNT Signaling Pathway Regulator), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drug Cola has been mentioned in the context of this disorder. Affiliated tissues include colon and testes, and related phenotype is neoplasm.

Related Diseases for Familial Colorectal Cancer

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 Familial Colorectal Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 lynch syndrome 30.0 APC MLH1 MSH2 MUTYH TP53
2 mutyh-associated polyposis 29.7 APC MT-CO2 MUTYH TP53
3 adenoma 29.5 APC MLH1 MSH2 MUTYH TP53
4 colorectal adenoma 29.1 APC MLH1 MSH2 MUTYH TP53
5 familial adenomatous polyposis 29.1 APC MLH1 MSH2 MUTYH TP53
6 polyposis syndrome, hereditary mixed, 1 28.9 APC GREM1 MLH1 MUTYH
7 familial colorectal cancer type x 12.2
8 genetic recurrent myoglobinuria 10.9 MT-CO1 MT-CO3
9 periodic paralysis with later-onset distal motor neuropathy 10.9 MT-ATP6 MT-ATP8
10 mitochondrial myopathy, infantile, transient 10.8 MT-CYB MT-ND6
11 colorectal cancer 10.8
12 parkinson disease, mitochondrial 10.8 MT-CYB MT-ND6
13 isolated atp synthase deficiency 10.7 MT-ATP6 MT-ATP8
14 anal squamous cell carcinoma 10.7 APC MLH1 TP53
15 appendix carcinoid tumor 10.7 MLH1 MSH2
16 adenosquamous colon carcinoma 10.7 MLH1 MSH2
17 parasitic protozoa infectious disease 10.7 MT-CO1 MT-CO2 MT-CYB
18 deafness, aminoglycoside-induced 10.6 MT-CO1 MT-ND4
19 actinic cheilitis 10.6 MSH2 TP53
20 sebaceous adenoma 10.6 MLH1 MSH2
21 lower lip cancer 10.6 MLH1 MSH2
22 keratoacanthoma 10.6 MLH1 MSH2 TP53
23 mismatch repair cancer syndrome 10.6 APC MLH1 MSH2
24 myiasis 10.5 MT-CO1 MT-ND5
25 lip cancer 10.5 MSH2 TP53
26 cercarial dermatitis 10.5 MT-ATP8 MT-CO1 MT-ND4
27 hereditary breast ovarian cancer syndrome 10.5 MLH1 MSH2 TP53
28 parkinson disease 6, autosomal recessive early-onset 10.5 MT-CYB MT-ND5 MT-ND6
29 sideroblastic anemia acquired 10.5 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2
30 anal fistula 10.5 MLH1 MSH2
31 colorectal adenocarcinoma 10.5 MLH1 MSH2 TP53
32 amelogenesis imperfecta, type iv 10.5 MT-CO1 MT-CYB
33 mitochondrial complex v deficiency 10.5 MT-ATP6 MT-ATP8
34 female reproductive organ cancer 10.4 MLH1 MSH2 TP53
35 leber optic atrophy and dystonia 10.4 MT-ND3 MT-ND4 MT-ND6
36 myoglobinuria, recurrent 10.4 MT-CO1 MT-CO2
37 adamantinoma of long bones 10.3 APC MLH1 MSH2 TP53
38 cranial nerve disease 10.3 MT-ND4 MT-ND5 MT-ND6
39 hyperplastic polyposis syndrome 10.3 APC MUTYH TP53
40 mitochondrial complex iv deficiency 10.3 MT-CO1 MT-CO2 MT-CO3 MT-ND3
41 optic nerve disease 10.3 MT-ND4 MT-ND5 MT-ND6
42 sparganosis 10.2 MT-CO1 MT-CYB MT-ND3 MT-ND4
43 attenuated familial adenomatous polyposis 10.2 APC MSH2 MUTYH
44 encephalomyopathy 10.2 MT-CYB MT-ND4 MT-ND5 MT-ND6
45 gastrointestinal system benign neoplasm 10.2 MLH1 MUTYH TP53
46 diphyllobothriasis 10.1 MT-ATP8 MT-CO1 MT-ND3 MT-ND5
47 cell type benign neoplasm 10.1 MLH1 MUTYH TP53
48 mitochondrial metabolism disease 10.1 MT-ATP6 MT-ND3 MT-ND5 MT-ND6
49 epilepsy, familial temporal lobe, 2 10.1 MT-CO1 MT-CO3
50 mitochondrial dna depletion syndrome 1 10.0 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND3

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



Diseases related to Familial Colorectal Cancer

Symptoms & Phenotypes for Familial Colorectal Cancer

MGI Mouse Phenotypes related to Familial Colorectal Cancer:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.17 APC KAT5 MLH1 MSH2 MT-ND6 MUTYH

Drugs & Therapeutics for Familial Colorectal Cancer

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cola Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Implementation of Guidelines on Hereditary or Familial Colorectal Cancer Unknown status NCT00929097 Not Applicable
2 Identifying Patients With Hereditary and Familial Colorectal Cancer by Using an Online Risk Tool Completed NCT02645084 Not Applicable
3 Family Colorectal Cancer Awareness and Risk Education Project (Family CARE Project) Completed NCT01274143 Not Applicable
4 Sequencing to Identify Gene Variants in Familial Colorectal Cancer Completed NCT01904630
5 Educational CD-ROM Compared With Standard Informed Consent for Patients With Colorectal Cancer or a Family History of Colorectal Cancer Completed NCT00450424 Not Applicable
6 Familial Colorectal Cancer Registry in Hispanics Recruiting NCT00927680
7 Screening for Familial Colorectal Cancer (CRC) Patients Active, not recruiting NCT00632515

Search NIH Clinical Center for Familial Colorectal Cancer

Genetic Tests for Familial Colorectal Cancer

Genetic tests related to Familial Colorectal Cancer:

# Genetic test Affiliating Genes
1 Familial Colorectal Cancer 29

Anatomical Context for Familial Colorectal Cancer

MalaCards organs/tissues related to Familial Colorectal Cancer:

41
Colon, Testes

Publications for Familial Colorectal Cancer

Articles related to Familial Colorectal Cancer:

(show top 50) (show all 182)
# Title Authors Year
1
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis. ( 29448935 )
2018
2
Translational Research in Familial Colorectal Cancer Syndromes. ( 29720902 )
2018
3
Recent progress in Lynch syndrome and other familial colorectal cancer syndromes. ( 29485237 )
2018
4
Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes. ( 29651783 )
2018
5
Accuracy of Colon Capsule Endoscopy in Detecting Colorectal Polyps in Individuals with Familial Colorectal Cancer: Could We Avoid Colonoscopies? ( 28265285 )
2017
6
Screening of BMPR1a for pathogenic mutations in familial colorectal cancer type X families from Newfoundland. ( 28660566 )
2017
7
SETD6 dominant negative mutation in familial colorectal cancer type X. ( 28973356 )
2017
8
Differential expression of CK20, I^-catenin, and MUC2/5AC/6 in Lynch syndrome and familial colorectal cancer type X. ( 28824332 )
2017
9
Familial Colorectal Cancer Type X (FCCTX) and the correlation with various genes-A systematic review. ( 29096939 )
2017
10
Intervention Mediators in a Randomized Controlled Trial to Increase Colonoscopy Uptake Among Individuals at Increased Risk of Familial Colorectal Cancer. ( 28236077 )
2017
11
Colonoscopic surveillance - a cost-effective method to prevent hereditary and familial colorectal cancer. ( 28587529 )
2017
12
Chromosome 19q13 disruption alters expressions of CYP2A7, MIA and MIA-RAB4B lncRNA and contributes to FAP-like phenotype in APC mutation-negative familial colorectal cancer patients. ( 28306719 )
2017
13
Familial Colorectal Cancer Type X in Central Iran: A New Clinicopathologic Description. ( 28989591 )
2017
14
Familial Colorectal Cancer Type X. ( 29081690 )
2017
15
Evaluation of an online family history tool for identifying hereditary and familial colorectal cancer. ( 28936633 )
2017
16
Do alcoholic beverages, obesity and other nutritional factors modify the risk of familial colorectal cancer? A systematic review. ( 28927785 )
2017
17
Gatekeeper role of gastroenterologists and surgeons in recognising and discussing familial colorectal cancer. ( 26687117 )
2016
18
Screening colonoscopy intervals in familial colorectal cancer. ( 28138582 )
2016
19
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. ( 27356891 )
2016
20
Evaluation of a Population Based Approach to Familial Colorectal Cancer. ( 27696385 )
2016
21
Familial colorectal cancer: Patient assessment, surveillance and surgical management. ( 27546013 )
2016
22
Identification of familial colorectal cancer and hereditary colorectal cancer syndromes through the Dutch population-screening program: results ofa pilot study. ( 27310819 )
2016
23
Familial Colorectal Cancer: Understanding the Alphabet Soup. ( 27582643 )
2016
24
Adenomas as a risk factor in familial colorectal cancer: implications for screening and surveillance in the UK. ( 27207111 )
2016
25
Clinicopathological differences between familial colorectal cancer type X and sporadic cancer in an isolated area of spain. ( 27671100 )
2016
26
Decentralized colonoscopic surveillance with high patient compliance prevents hereditary and familial colorectal cancer. ( 26935832 )
2016
27
Familial colorectal cancer screening: When and what to do? ( 26185367 )
2015
28
Familial colorectal cancer. ( 25955461 )
2015
29
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. ( 26133394 )
2015
30
GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer. ( 25992589 )
2015
31
Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. ( 26300997 )
2015
32
Familial colorectal cancer risk by subsite of primary cancer: a population-based study in Utah. ( 25604623 )
2015
33
Randomized Comparison of Surveillance Intervals in Familial Colorectal Cancer. ( 26527788 )
2015
34
Familial colorectal cancer syndromes: an overview of clinical management. ( 25779305 )
2015
35
Familial colorectal cancer risk may be lower than previously thought: A Danish cohort study. ( 26223561 )
2015
36
Survival in familial colorectal cancer: a Danish cohort study. ( 25963853 )
2015
37
Methyltransferase expression and tumor suppressor gene methylation in sporadic and familial colorectal cancer. ( 26305882 )
2015
38
Hereditary and common familial colorectal cancer: evidence for colorectal screening. ( 25501924 )
2015
39
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. ( 24501277 )
2014
40
Exome sequencing in familial colorectal cancer: searching for needles in haystacks. ( 25075943 )
2014
41
Familial colorectal cancer: a review. ( 25071323 )
2014
42
Equivalency of Fecal Immunochemical Tests and Colonoscopy in Familial Colorectal Cancer Screening. ( 25127679 )
2014
43
Familial colorectal cancer type X: genetic profiles and phenotypic features. ( 24743215 )
2014
44
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. ( 25058500 )
2014
45
Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X. ( 25381643 )
2014
46
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X. ( 25307848 )
2014
47
Characterisation of familial colorectal cancer Type X, Lynch syndrome, and non-familial colorectal cancer. ( 24918813 )
2014
48
GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X. ( 24115450 )
2014
49
BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X. ( 24814045 )
2014
50
Comparison of clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients with colorectal cancer: a cross-sectional study conducted by the Japanese Society for Cancer of the Colon and Rectum. ( 25404568 )
2014

Variations for Familial Colorectal Cancer

ClinVar genetic disease variations for Familial Colorectal Cancer:

6
(show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-CO1 m.6277G> A single nucleotide variant Pathogenic rs281865417 GRCh37 Chromosome MT, 6277: 6277
2 MT-CO2 m.8009G> A single nucleotide variant Pathogenic rs199474826 GRCh37 Chromosome MT, 8009: 8009
3 MT-CO2 m.8009G> A single nucleotide variant Pathogenic rs199474826 GRCh38 Chromosome MT, 8009: 8009
4 MT-CO1 m.6277G> A single nucleotide variant Pathogenic rs281865417 GRCh38 Chromosome MT, 6277: 6277
5 MT-CO1 m.6264G> A single nucleotide variant Pathogenic rs267606882 GRCh37 Chromosome MT, 6264: 6264
6 MT-CO1 m.6264G> A single nucleotide variant Pathogenic rs267606882 GRCh38 Chromosome MT, 6264: 6264
7 MT-CO1 m.7275T> C single nucleotide variant Pathogenic rs267606884 GRCh37 Chromosome MT, 7275: 7275
8 MT-CO1 m.7275T> C single nucleotide variant Pathogenic rs267606884 GRCh38 Chromosome MT, 7275: 7275
9 MT-CYB m.14985G> A single nucleotide variant Pathogenic rs207459995 GRCh37 Chromosome MT, 14985: 14985
10 MT-CYB m.14985G> A single nucleotide variant Pathogenic rs207459995 GRCh38 Chromosome MT, 14985: 14985
11 MT-CYB m.15572T> C single nucleotide variant Pathogenic rs207459996 GRCh37 Chromosome MT, 15572: 15572
12 MT-CYB m.15572T> C single nucleotide variant Pathogenic rs207459996 GRCh38 Chromosome MT, 15572: 15572
13 MT-ND4L m.10563T> C single nucleotide variant Pathogenic rs267606892 GRCh38 Chromosome MT, 10563: 10563
14 MT-ND4L m.10563T> C single nucleotide variant Pathogenic rs267606892 GRCh37 Chromosome MT, 10563: 10563
15 PLA2G2A NM_000300.3(PLA2G2A): c.144_145delTG (p.Cys48Trpfs) deletion Pathogenic rs587776800 GRCh37 Chromosome 1, 20304913: 20304914
16 PLA2G2A NM_000300.3(PLA2G2A): c.144_145delTG (p.Cys48Trpfs) deletion Pathogenic rs587776800 GRCh38 Chromosome 1, 19978420: 19978421
17 APC NM_000038.5(APC): c.190G> T (p.Gly64Ter) single nucleotide variant Pathogenic rs79323615 GRCh37 Chromosome 5, 112102077: 112102077
18 APC NM_000038.5(APC): c.190G> T (p.Gly64Ter) single nucleotide variant Pathogenic rs79323615 GRCh38 Chromosome 5, 112766380: 112766380
19 APC NM_000038.5(APC): c.190G> T (p.Gly64Ter) single nucleotide variant Pathogenic rs79323615 NCBI36 Chromosome 5, 112129976: 112129976
20 MUTYH NM_001128425.1(MUTYH): c.1147delC (p.Ala385Profs) deletion Pathogenic/Likely pathogenic rs587778536 GRCh37 Chromosome 1, 45797372: 45797372
21 MUTYH NM_001128425.1(MUTYH): c.1147delC (p.Ala385Profs) deletion Pathogenic/Likely pathogenic rs587778536 GRCh38 Chromosome 1, 45331700: 45331700
22 GREM1 NC_000015.10: g.(?_32672539)_(32696629_?)dup duplication Uncertain significance GRCh37 Chromosome 15, 32964740: 32988830
23 GREM1 NC_000015.10: g.(?_32672539)_(32696629_?)dup duplication Uncertain significance GRCh38 Chromosome 15, 32672539: 32696629
24 GREM1 NC_000015.10: g.(?_32679746)_(32712558_?)dup duplication Pathogenic GRCh37 Chromosome 15, 32971947: 33004759
25 GREM1 NC_000015.10: g.(?_32679746)_(32712558_?)dup duplication Pathogenic GRCh38 Chromosome 15, 32679746: 32712558
26 GREM1 NC_000015.10: g.(?_32672539)_(32712558_?)dup duplication Uncertain significance GRCh38 Chromosome 15, 32672539: 32712558
27 GREM1 NC_000015.10: g.(?_32696494)_(32712558_?)dup duplication Likely pathogenic GRCh37 Chromosome 15, 32988695: 33004759
28 GREM1 NC_000015.10: g.(?_32696494)_(32712558_?)dup duplication Likely pathogenic GRCh38 Chromosome 15, 32696494: 32712558

Expression for Familial Colorectal Cancer

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

Pathways for Familial Colorectal Cancer

Pathways related to Familial Colorectal Cancer according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB
2
Show member pathways
12.66 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB
3
Show member pathways
12.62 KAT5 MLH1 MSH2 MT-CO1 MT-CO2 MT-CO3
4
Show member pathways
12.35 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6
5 11.98 APC MLH1 MSH2 TP53
6 11.9 KAT5 MLH1 MSH2 MUTYH TP53 TRIM28
7 11.79 APC MLH1 MSH2 TP53
8 11.55 MLH1 MSH2 TP53
9 11.55 MT-CO1 MT-CO2 MT-CO3 TP53
10 11.42 KAT5 TP53 TRIM28
11 11.35 MT-CO1 MT-CO2 MT-CO3 MT-CYB
12
Show member pathways
11.18 MLH1 MSH2 TP53

GO Terms for Familial Colorectal Cancer

Cellular components related to Familial Colorectal Cancer according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.9 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND3
2 mitochondrial membrane GO:0031966 9.77 MT-ATP8 MT-ND3 MT-ND4 MT-ND4L MT-ND6
3 mitochondrial inner membrane GO:0005743 9.65 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB
4 mitochondrial respiratory chain complex I GO:0005747 9.62 MT-ND3 MT-ND4 MT-ND4L MT-ND5
5 mitochondrial respiratory chain complex IV GO:0005751 9.58 MT-CO1 MT-CO2 MT-CO3
6 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.52 MT-ATP6 MT-ATP8
7 mismatch repair complex GO:0032300 9.51 MLH1 MSH2
8 mitochondrial respiratory chain complex III GO:0005750 9.49 MT-CO1 MT-CYB
9 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.48 MT-ATP6 MT-ATP8
10 NADH dehydrogenase complex GO:0030964 9.43 MT-ND3 MT-ND4L
11 respiratory chain complex IV GO:0045277 9.43 MT-CO1 MT-CO2 MT-CO3
12 respiratory chain GO:0070469 9.23 MT-CO1 MT-CO2 MT-CYB MT-ND3 MT-ND4 MT-ND4L
13 membrane GO:0016020 10.36 APC MLH1 MSH2 MT-ATP6 MT-ATP8 MT-CO1

Biological processes related to Familial Colorectal Cancer according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.95 APC MLH1 MSH2 MUTYH TP53
2 oxidation-reduction process GO:0055114 9.86 MT-CO1 MT-CO2 MT-CYB MT-ND3 MT-ND4 MT-ND4L
3 proton transmembrane transport GO:1902600 9.77 MT-CO1 MT-CO2 MT-CO3
4 aerobic respiration GO:0009060 9.65 MT-CO1 MT-CO3 MT-ND4
5 mismatch repair GO:0006298 9.63 MLH1 MSH2 MUTYH
6 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.62 MT-ATP6 MT-ATP8
7 mitochondrial respiratory chain complex I assembly GO:0032981 9.62 MT-ND3 MT-ND4 MT-ND5 MT-ND6
8 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.61 KAT5 TP53
9 somatic hypermutation of immunoglobulin genes GO:0016446 9.61 MLH1 MSH2
10 response to copper ion GO:0046688 9.6 MT-CO1 MT-CYB
11 isotype switching GO:0045190 9.58 MLH1 MSH2
12 response to hyperoxia GO:0055093 9.58 MT-ATP6 MT-CYB
13 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.58 MT-CO1 MT-CO2 MT-CO3
14 oxidative phosphorylation GO:0006119 9.57 MSH2 MT-CO1
15 determination of adult lifespan GO:0008340 9.56 MSH2 TP53
16 positive regulation of isotype switching to IgG isotypes GO:0048304 9.54 MLH1 MSH2
17 respiratory electron transport chain GO:0022904 9.54 MT-CO1 MT-CO3 MT-CYB
18 signal transduction by p53 class mediator GO:0072331 9.52 GREM1 TP53
19 positive regulation of isotype switching to IgA isotypes GO:0048298 9.51 MLH1 MSH2
20 somatic recombination of immunoglobulin gene segments GO:0016447 9.49 MLH1 MSH2
21 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.43 MLH1 MSH2
22 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.35 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6
23 electron transport coupled proton transport GO:0015990 9.33 MT-CO1 MT-CYB MT-ND4
24 ATP synthesis coupled electron transport GO:0042773 8.92 MT-CO2 MT-ND4 MT-ND4L MT-ND5

Molecular functions related to Familial Colorectal Cancer according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.73 MLH1 MSH2 MT-ATP6 MT-ATP8
2 electron transfer activity GO:0009055 9.67 MT-CO1 MT-CO3 MT-CYB
3 oxidoreductase activity GO:0016491 9.56 MT-CO1 MT-CO2 MT-CYB MT-ND3 MT-ND4 MT-ND4L
4 mismatched DNA binding GO:0030983 9.48 MLH1 MSH2
5 NADH dehydrogenase activity GO:0003954 9.46 MT-ND4 MT-ND5
6 oxidized purine DNA binding GO:0032357 9.4 MSH2 MUTYH
7 MutLalpha complex binding GO:0032405 9.37 MSH2 MUTYH
8 cytochrome-c oxidase activity GO:0004129 9.33 MT-CO1 MT-CO2 MT-CO3
9 MutSalpha complex binding GO:0032407 9.32 MLH1 MUTYH
10 guanine/thymine mispair binding GO:0032137 9.26 MLH1 MSH2
11 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.02 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6

Sources for Familial Colorectal Cancer

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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