MCID: FML053
MIFTS: 44

Familial Colorectal Cancer

Categories: Blood diseases, Cancer diseases, Gastrointestinal diseases, Genetic diseases, Rare 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 Endometrial cancer. The drug Cola has been mentioned in the context of this disorder. Affiliated tissues include colon, testes and kidney, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 86)
# Related Disease Score Top Affiliating Genes
1 lynch syndrome 30.6 APC MLH1 MSH2 MUTYH TGFBR2 TP53
2 mutyh-associated polyposis 30.0 APC MT-CO2 MUTYH TP53
3 familial adenomatous polyposis 29.8 APC MLH1 MSH2 MUTYH TP53
4 adenoma 29.7 APC MLH1 MSH2 MUTYH TGFBR2 TP53
5 endometrial cancer 29.6 MLH1 MSH2 MUTYH TGFBR2 TP53
6 familial colorectal cancer type x 12.4
7 colorectal cancer 10.9
8 genetic recurrent myoglobinuria 10.3 MT-CO1 MT-CO3
9 periodic paralysis with later-onset distal motor neuropathy 10.3 MT-ATP6 MT-ATP8
10 mitochondrial myopathy, infantile, transient 10.3 MT-CYB MT-ND6
11 hyperplastic polyposis syndrome 10.3 APC MUTYH TP53
12 isolated atp synthase deficiency 10.2 MT-ATP6 MT-ATP8
13 myasthenic syndrome, congenital, 10 10.2 MT-CO1 MT-CO2 MT-CYB
14 lip cancer 10.2 MSH2 TP53
15 attenuated familial adenomatous polyposis 10.2 APC MSH2 MUTYH
16 actinic cheilitis 10.2 MSH2 TP53
17 anal squamous cell carcinoma 10.2 APC MLH1 TP53
18 parasitic protozoa infectious disease 10.2 MT-CO1 MT-CO2 MT-CYB
19 appendix carcinoid tumor 10.2 MLH1 MSH2
20 colorectal cancer, hereditary nonpolyposis, type 7 10.2 MLH1 MSH2
21 parkinson disease, mitochondrial 10.2 MT-ATP6 MT-CYB MT-ND6
22 adenosquamous colon carcinoma 10.2 MLH1 MSH2
23 sebaceous adenoma 10.2 MLH1 MSH2
24 pediculus humanus capitis infestation 10.2 MT-CO1 MT-CYB
25 lower lip cancer 10.2 MLH1 MSH2
26 cell type benign neoplasm 10.2 MLH1 MUTYH TP53
27 myiasis 10.2 MT-CO1 MT-ND5
28 mismatch repair cancer syndrome 10.2 APC MLH1 MSH2
29 keratoacanthoma 10.2 MLH1 MSH2 TP53
30 muir-torre syndrome 10.2 MLH1 MSH2 MUTYH
31 uterine anomalies 10.2 MLH1 MSH2 TP53
32 cercarial dermatitis 10.2 MT-ATP8 MT-CO1 MT-ND4
33 anal fistula 10.2 MLH1 MSH2
34 colonic disease 10.2 MLH1 MSH2 TP53
35 amelogenesis imperfecta, type iv 10.2 MT-CO1 MT-CYB
36 colorectal adenocarcinoma 10.2 MLH1 MSH2 TP53
37 deafness, aminoglycoside-induced 10.2 MT-CO1 MT-ND4
38 sideroblastic anemia acquired 10.2 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2
39 parkinson disease 6, autosomal recessive early-onset 10.2 MT-CYB MT-ND5 MT-ND6
40 female reproductive system disease 10.2 MLH1 MSH2 TP53
41 leber optic atrophy and dystonia 10.1 MT-ND3 MT-ND4 MT-ND6
42 rectal neoplasm 10.1 MLH1 MSH2 MUTYH TP53
43 adenocarcinoma 10.1 APC MLH1 TGFBR2 TP53
44 autosomal genetic disease 10.1 MLH1 MSH2 MUTYH TP53
45 intestinal disease 10.1 MLH1 MSH2 MUTYH TP53
46 gastrointestinal system cancer 10.1 MLH1 MSH2 MUTYH TP53
47 adamantinoma of long bones 10.1 APC MLH1 MSH2 TP53
48 mitochondrial complex iv deficiency 10.1 MT-CO1 MT-CO2 MT-CO3 MT-ND4
49 cranial nerve disease 10.1 MT-ND4 MT-ND5 MT-ND6
50 intestinal benign neoplasm 10.1 APC MLH1 MSH2 MUTYH TP53

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



Diseases related to Familial Colorectal Cancer

Symptoms & Phenotypes for Familial Colorectal Cancer

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

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.68 TGFBR2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.68 KAT5 TGFBR2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.68 TGFBR2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.68 TGFBR2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.68 TP53
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.68 PLA2G2A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.68 KAT5 PLA2G2A TGFBR2 TP53
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.68 KAT5 PLA2G2A
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.68 PLA2G2A
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.68 KAT5
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.68 TGFBR2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.68 KAT5
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.68 TGFBR2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.68 PLA2G2A
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.68 TP53
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.68 TGFBR2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.68 KAT5
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.68 TGFBR2

MGI Mouse Phenotypes related to Familial Colorectal Cancer:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.23 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 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, Kidney, Bone, Tongue, Appendix, Temporal Lobe

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
Risks of Colorectal Cancer and Cancer-Related Mortality in Familial Colorectal Cancer Type X and Lynch Syndrome Families. ( 30380125 )
2018
6
Impact of colonoscopic screening in Familial Colorectal Cancer Type X. ( 30300963 )
2018
7
Accuracy of Colon Capsule Endoscopy in Detecting Colorectal Polyps in Individuals with Familial Colorectal Cancer: Could We Avoid Colonoscopies? ( 28265285 )
2017
8
Screening of BMPR1a for pathogenic mutations in familial colorectal cancer type X families from Newfoundland. ( 28660566 )
2017
9
SETD6 dominant negative mutation in familial colorectal cancer type X. ( 28973356 )
2017
10
Differential expression of CK20, I^-catenin, and MUC2/5AC/6 in Lynch syndrome and familial colorectal cancer type X. ( 28824332 )
2017
11
Familial Colorectal Cancer Type X (FCCTX) and the correlation with various genes-A systematic review. ( 29096939 )
2017
12
Intervention Mediators in a Randomized Controlled Trial to Increase Colonoscopy Uptake Among Individuals at Increased Risk of Familial Colorectal Cancer. ( 28236077 )
2017
13
Colonoscopic surveillance - a cost-effective method to prevent hereditary and familial colorectal cancer. ( 28587529 )
2017
14
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
15
Familial Colorectal Cancer Type X in Central Iran: A New Clinicopathologic Description. ( 28989591 )
2017
16
Familial Colorectal Cancer Type X. ( 29081690 )
2017
17
Evaluation of an online family history tool for identifying hereditary and familial colorectal cancer. ( 28936633 )
2017
18
Do alcoholic beverages, obesity and other nutritional factors modify the risk of familial colorectal cancer? A systematic review. ( 28927785 )
2017
19
Gatekeeper role of gastroenterologists and surgeons in recognising and discussing familial colorectal cancer. ( 26687117 )
2016
20
Screening colonoscopy intervals in familial colorectal cancer. ( 28138582 )
2016
21
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. ( 27356891 )
2016
22
Evaluation of a Population Based Approach to Familial Colorectal Cancer. ( 27696385 )
2016
23
Familial colorectal cancer: Patient assessment, surveillance and surgical management. ( 27546013 )
2016
24
Identification of familial colorectal cancer and hereditary colorectal cancer syndromes through the Dutch population-screening program: results ofa pilot study. ( 27310819 )
2016
25
Familial Colorectal Cancer: Understanding the Alphabet Soup. ( 27582643 )
2016
26
Adenomas as a risk factor in familial colorectal cancer: implications for screening and surveillance in the UK. ( 27207111 )
2016
27
Clinicopathological differences between familial colorectal cancer type X and sporadic cancer in an isolated area of spain. ( 27671100 )
2016
28
Decentralized colonoscopic surveillance with high patient compliance prevents hereditary and familial colorectal cancer. ( 26935832 )
2016
29
Familial colorectal cancer screening: When and what to do? ( 26185367 )
2015
30
Familial colorectal cancer. ( 25955461 )
2015
31
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
32
GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer. ( 25992589 )
2015
33
Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. ( 26300997 )
2015
34
Familial colorectal cancer risk by subsite of primary cancer: a population-based study in Utah. ( 25604623 )
2015
35
Randomized Comparison of Surveillance Intervals in Familial Colorectal Cancer. ( 26527788 )
2015
36
Familial colorectal cancer syndromes: an overview of clinical management. ( 25779305 )
2015
37
Familial colorectal cancer risk may be lower than previously thought: A Danish cohort study. ( 26223561 )
2015
38
Survival in familial colorectal cancer: a Danish cohort study. ( 25963853 )
2015
39
Methyltransferase expression and tumor suppressor gene methylation in sporadic and familial colorectal cancer. ( 26305882 )
2015
40
Hereditary and common familial colorectal cancer: evidence for colorectal screening. ( 25501924 )
2015
41
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. ( 24501277 )
2014
42
Exome sequencing in familial colorectal cancer: searching for needles in haystacks. ( 25075943 )
2014
43
Familial colorectal cancer: a review. ( 25071323 )
2014
44
Equivalency of Fecal Immunochemical Tests and Colonoscopy in Familial Colorectal Cancer Screening. ( 25127679 )
2014
45
Familial colorectal cancer type X: genetic profiles and phenotypic features. ( 24743215 )
2014
46
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. ( 25058500 )
2014
47
Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X. ( 25381643 )
2014
48
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X. ( 25307848 )
2014
49
Characterisation of familial colorectal cancer Type X, Lynch syndrome, and non-familial colorectal cancer. ( 24918813 )
2014
50
GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X. ( 24115450 )
2014

Variations for Familial Colorectal Cancer

ClinVar genetic disease variations for Familial Colorectal Cancer:

6 (show top 50) (show all 3237)
# Gene Variation Type Significance SNP ID Assembly Location
1 MUTYH NM_001128425.1(MUTYH): c.312C> A (p.Tyr104Ter) single nucleotide variant Pathogenic rs121908380 GRCh37 Chromosome 1, 45799121: 45799121
2 MUTYH NM_001128425.1(MUTYH): c.312C> A (p.Tyr104Ter) single nucleotide variant Pathogenic rs121908380 GRCh38 Chromosome 1, 45333449: 45333449
3 MT-CO2 m.8009G> A single nucleotide variant Pathogenic rs199474826 GRCh37 Chromosome MT, 8009: 8009
4 MT-CO2 m.8009G> A single nucleotide variant Pathogenic rs199474826 GRCh38 Chromosome MT, 8009: 8009
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.6277G> A single nucleotide variant Pathogenic rs281865417 GRCh37 Chromosome MT, 6277: 6277
8 MT-CO1 m.6277G> A single nucleotide variant Pathogenic rs281865417 GRCh38 Chromosome MT, 6277: 6277
9 MT-CO1 m.7275T> C single nucleotide variant Pathogenic rs267606884 GRCh37 Chromosome MT, 7275: 7275
10 MT-CO1 m.7275T> C single nucleotide variant Pathogenic rs267606884 GRCh38 Chromosome MT, 7275: 7275
11 MT-CYB m.14985G> A single nucleotide variant Pathogenic rs207459995 GRCh37 Chromosome MT, 14985: 14985
12 MT-CYB m.14985G> A single nucleotide variant Pathogenic rs207459995 GRCh38 Chromosome MT, 14985: 14985
13 MT-CYB m.15572T> C single nucleotide variant Pathogenic rs207459996 GRCh37 Chromosome MT, 15572: 15572
14 MT-CYB m.15572T> C single nucleotide variant Pathogenic rs207459996 GRCh38 Chromosome MT, 15572: 15572
15 MT-ND4L m.10563T> C single nucleotide variant Pathogenic rs267606892 GRCh37 Chromosome MT, 10563: 10563
16 MT-ND4L m.10563T> C single nucleotide variant Pathogenic rs267606892 GRCh38 Chromosome MT, 10563: 10563
17 TP53 NM_000546.5(TP53): c.974G> T (p.Gly325Val) single nucleotide variant Uncertain significance rs121912659 GRCh37 Chromosome 17, 7576872: 7576872
18 TP53 NM_000546.5(TP53): c.974G> T (p.Gly325Val) single nucleotide variant Uncertain significance rs121912659 GRCh38 Chromosome 17, 7673554: 7673554
19 TP53 NM_000546.5(TP53): c.566C> T (p.Ala189Val) single nucleotide variant Uncertain significance rs121912665 GRCh37 Chromosome 17, 7578283: 7578283
20 TP53 NM_000546.5(TP53): c.566C> T (p.Ala189Val) single nucleotide variant Uncertain significance rs121912665 GRCh38 Chromosome 17, 7674965: 7674965
21 TGFBR2 NM_003242.5(TGFBR2): c.944C> T (p.Thr315Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34833812 GRCh37 Chromosome 3, 30713619: 30713619
22 TGFBR2 NM_003242.5(TGFBR2): c.944C> T (p.Thr315Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34833812 GRCh38 Chromosome 3, 30672127: 30672127
23 PLA2G2A NM_000300.3(PLA2G2A): c.144_145delTG (p.Cys48Trpfs) deletion Pathogenic rs587776800 GRCh37 Chromosome 1, 20304913: 20304914
24 PLA2G2A NM_000300.3(PLA2G2A): c.144_145delTG (p.Cys48Trpfs) deletion Pathogenic rs587776800 GRCh38 Chromosome 1, 19978420: 19978421
25 APC NM_000038.5(APC): c.5465T> A (p.Val1822Asp) single nucleotide variant Benign rs459552 GRCh37 Chromosome 5, 112176756: 112176756
26 APC NM_000038.5(APC): c.5465T> A (p.Val1822Asp) single nucleotide variant Benign rs459552 GRCh38 Chromosome 5, 112841059: 112841059
27 APC NM_000038.5(APC): c.5465T> A (p.Val1822Asp) single nucleotide variant Benign rs459552 NCBI36 Chromosome 5, 112204655: 112204655
28 APC NM_000038.5(APC): c.1458T> C (p.Tyr486=) single nucleotide variant Benign rs2229992 GRCh37 Chromosome 5, 112162854: 112162854
29 APC NM_000038.5(APC): c.1458T> C (p.Tyr486=) single nucleotide variant Benign rs2229992 GRCh38 Chromosome 5, 112827157: 112827157
30 APC NM_000038.5(APC): c.1458T> C (p.Tyr486=) single nucleotide variant Benign rs2229992 NCBI36 Chromosome 5, 112190753: 112190753
31 APC NM_000038.5(APC): c.1635G> A (p.Ala545=) single nucleotide variant Benign rs351771 GRCh37 Chromosome 5, 112164561: 112164561
32 APC NM_000038.5(APC): c.1635G> A (p.Ala545=) single nucleotide variant Benign rs351771 GRCh38 Chromosome 5, 112828864: 112828864
33 APC NM_000038.5(APC): c.1635G> A (p.Ala545=) single nucleotide variant Benign rs351771 NCBI36 Chromosome 5, 112192460: 112192460
34 APC NM_000038.5(APC): c.4479G> A (p.Thr1493=) single nucleotide variant Benign rs41115 GRCh37 Chromosome 5, 112175770: 112175770
35 APC NM_000038.5(APC): c.4479G> A (p.Thr1493=) single nucleotide variant Benign rs41115 GRCh38 Chromosome 5, 112840073: 112840073
36 APC NM_000038.5(APC): c.4479G> A (p.Thr1493=) single nucleotide variant Benign rs41115 NCBI36 Chromosome 5, 112203669: 112203669
37 APC NM_000038.5(APC): c.5034G> A (p.Gly1678=) single nucleotide variant Benign rs42427 GRCh37 Chromosome 5, 112176325: 112176325
38 APC NM_000038.5(APC): c.5034G> A (p.Gly1678=) single nucleotide variant Benign rs42427 GRCh38 Chromosome 5, 112840628: 112840628
39 APC NM_000038.5(APC): c.5034G> A (p.Gly1678=) single nucleotide variant Benign rs42427 NCBI36 Chromosome 5, 112204224: 112204224
40 APC NM_000038.5(APC): c.5268T> G (p.Ser1756=) single nucleotide variant Benign rs866006 GRCh37 Chromosome 5, 112176559: 112176559
41 APC NM_000038.5(APC): c.5268T> G (p.Ser1756=) single nucleotide variant Benign rs866006 GRCh38 Chromosome 5, 112840862: 112840862
42 APC NM_000038.5(APC): c.5268T> G (p.Ser1756=) single nucleotide variant Benign rs866006 NCBI36 Chromosome 5, 112204458: 112204458
43 APC NM_000038.5(APC): c.5880G> A (p.Pro1960=) single nucleotide variant Benign rs465899 GRCh37 Chromosome 5, 112177171: 112177171
44 APC NM_000038.5(APC): c.5880G> A (p.Pro1960=) single nucleotide variant Benign rs465899 GRCh38 Chromosome 5, 112841474: 112841474
45 APC NM_000038.5(APC): c.5880G> A (p.Pro1960=) single nucleotide variant Benign rs465899 NCBI36 Chromosome 5, 112205070: 112205070
46 KAT5 NM_182710.2(KAT5): c.638T> G (p.Val213Gly) single nucleotide variant not provided rs386834229 GRCh37 Chromosome 11, 65481267: 65481267
47 KAT5 NM_182710.2(KAT5): c.638T> G (p.Val213Gly) single nucleotide variant not provided rs386834229 GRCh38 Chromosome 11, 65713796: 65713796
48 APC NM_001127511.2(APC): c.165+20015G> T single nucleotide variant other rs79707630 GRCh37 Chromosome 5, 112063594: 112063594
49 APC NM_001127511.2(APC): c.165+20015G> T single nucleotide variant other rs79707630 GRCh38 Chromosome 5, 112727897: 112727897
50 APC NM_001127511.2(APC): c.165+20015G> T single nucleotide variant other rs79707630 NCBI36 Chromosome 5, 112091493: 112091493

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB
2
Show member pathways
12.68 APC MLH1 MSH2 TGFBR2 TP53
3
Show member pathways
12.66 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB
4 12.64 APC MLH1 MSH2 TGFBR2 TP53
5
Show member pathways
12.62 KAT5 MLH1 MSH2 MT-CO1 MT-CO2 MT-CO3
6
Show member pathways
12.37 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6
7 12.24 KAT5 MLH1 MSH2 MUTYH TP53
8 12.22 APC KAT5 TGFBR2 TP53
9 11.83 APC MLH1 MSH2 TP53
10 11.57 APC MLH1 MSH2 TGFBR2 TP53
11 11.55 MT-CO1 MT-CO2 MT-CO3 TP53
12 11.53 MLH1 MSH2 TP53
13 11.35 MT-CO1 MT-CO2 MT-CO3 MT-CYB
14
Show member pathways
11.21 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 9.85 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 respiratory chain complex III GO:0005750 9.52 MT-CO1 MT-CYB
7 mismatch repair complex GO:0032300 9.51 MLH1 MSH2
8 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.49 MT-ATP6 MT-ATP8
9 NADH dehydrogenase complex GO:0030964 9.46 MT-ND3 MT-ND4L
10 respiratory chain complex IV GO:0045277 9.43 MT-CO1 MT-CO2 MT-CO3
11 respiratory chain GO:0070469 9.23 MT-CO1 MT-CO2 MT-CYB MT-ND3 MT-ND4 MT-ND4L
12 membrane GO:0016020 10.36 APC MLH1 MSH2 MT-ATP6 MT-ATP8 MT-CO1
13 integral component of membrane GO:0016021 10.29 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.95 APC MLH1 MSH2 MUTYH TP53
2 aging GO:0007568 9.84 MT-ATP6 MT-CO1 MT-ND4 TGFBR2
3 response to hypoxia GO:0001666 9.83 MT-CYB MT-ND4 MT-ND5 TGFBR2
4 proton transmembrane transport GO:1902600 9.8 MT-CO1 MT-CO2 MT-CO3
5 oxidation-reduction process GO:0055114 9.76 MT-CO1 MT-CO2 MT-CYB MT-ND3 MT-ND4 MT-ND4L
6 ATP synthesis coupled proton transport GO:0015986 9.63 MT-ATP6 MT-ATP8
7 aerobic respiration GO:0009060 9.63 MT-CO1 MT-CO3 MT-ND4
8 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.62 MT-ATP6 MT-ATP8
9 respiratory electron transport chain GO:0022904 9.62 MT-CO3 MT-CYB
10 mitochondrial respiratory chain complex I assembly GO:0032981 9.62 MT-ND3 MT-ND4 MT-ND5 MT-ND6
11 response to copper ion GO:0046688 9.61 MT-CO1 MT-CYB
12 somatic hypermutation of immunoglobulin genes GO:0016446 9.61 MLH1 MSH2
13 mismatch repair GO:0006298 9.61 MLH1 MSH2 MUTYH
14 isotype switching GO:0045190 9.6 MLH1 MSH2
15 determination of adult lifespan GO:0008340 9.59 MSH2 TP53
16 response to hyperoxia GO:0055093 9.58 MT-ATP6 MT-CYB
17 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.58 KAT5 TP53
18 oxidative phosphorylation GO:0006119 9.57 MSH2 MT-CO1
19 positive regulation of isotype switching to IgG isotypes GO:0048304 9.56 MLH1 MSH2
20 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.56 MT-ND3 MT-ND4 MT-ND4L MT-ND5
21 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.54 MT-CO1 MT-CO2 MT-CO3
22 positive regulation of isotype switching to IgA isotypes GO:0048298 9.51 MLH1 MSH2
23 signal transduction by p53 class mediator GO:0072331 9.49 GREM1 TP53
24 somatic recombination of immunoglobulin gene segments GO:0016447 9.48 MLH1 MSH2
25 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.4 MLH1 MSH2
26 electron transport coupled proton transport GO:0015990 9.13 MT-CO1 MT-CYB MT-ND4
27 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:

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.76 MLH1 MSH2 MT-ATP6 MT-ATP8
2 oxidoreductase activity GO:0016491 9.56 MT-CO1 MT-CO2 MT-CYB MT-ND3 MT-ND4 MT-ND4L
3 mismatched DNA binding GO:0030983 9.48 MLH1 MSH2
4 NADH dehydrogenase activity GO:0003954 9.43 MT-ND4 MT-ND5
5 MutLalpha complex binding GO:0032405 9.4 MSH2 MUTYH
6 MutSalpha complex binding GO:0032407 9.37 MLH1 MUTYH
7 cytochrome-c oxidase activity GO:0004129 9.33 MT-CO1 MT-CO2 MT-CO3
8 oxidized purine DNA binding GO:0032357 9.32 MSH2 MUTYH
9 guanine/thymine mispair binding GO:0032137 9.26 MLH1 MSH2
10 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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