HMPS1
MCID: PLY162
MIFTS: 60

Polyposis Syndrome, Hereditary Mixed, 1 (HMPS1)

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

Aliases & Classifications for Polyposis Syndrome, Hereditary Mixed, 1

MalaCards integrated aliases for Polyposis Syndrome, Hereditary Mixed, 1:

Name: Polyposis Syndrome, Hereditary Mixed, 1 57 70
Hereditary Mixed Polyposis Syndrome 1 12 29 6 15
Colorectal Adenoma and Carcinoma 1 57 12 72
Colorectal Cancer 4 57 72 29
Hmps1 57 12 72
Crac1 57 12 72
Chromosome 15q13-Q14 Duplication Syndrome, 40-Kb 57 12
Polyposis Syndrome, Mixed Hereditary 1 57 72
Susceptibility to Colorectal Cancer on Chromosome 15 72
Colorectal Adenoma and Carcinoma 1; Crac1 57
Colorectal Cancer, Susceptibility to, 4 57
Polyposis Syndrome, Mixed, Hereditary 1 13
Adenomatous Polyps 70
Crcs4 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
polyposis syndrome, hereditary mixed, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111685
OMIM® 57 601228
SNOMED-CT via HPO 68 263681008
UMLS 70 C0206677 C1832587

Summaries for Polyposis Syndrome, Hereditary Mixed, 1

UniProtKB/Swiss-Prot : 72 Colorectal cancer 4: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
Polyposis syndrome, mixed hereditary 1: A disease characterized by apparent autosomal dominant inheritance of multiple types of colorectal polyp, with colorectal carcinoma occurring in a high proportion of affected individuals. Patients can develop polyps of multiple and mixed morphologies, including serrated lesions, Peutz-Jeghers polyps, juvenile polyps, conventional adenomas and colorectal carcinoma in the absence of any identifiable extra- colonic features.

MalaCards based summary : Polyposis Syndrome, Hereditary Mixed, 1, also known as hereditary mixed polyposis syndrome 1, is related to hereditary mixed polyposis syndrome and colorectal cancer, hereditary nonpolyposis, type 4. An important gene associated with Polyposis Syndrome, Hereditary Mixed, 1 is GREM1 (Gremlin 1, DAN Family BMP Antagonist), and among its related pathways/superpathways are Cell Cycle, Mitotic and Signaling by Rho GTPases. The drugs Clarithromycin and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include colon, liver and eye, and related phenotypes are abnormal abdomen morphology and Decreased substrate adherent cell growth

Disease Ontology : 12 A hereditary mixed polyposis syndrome that has material basis in heterozygous duplication of a region on chromosome 15q15.3-q22.1.

OMIM® : 57 The hereditary mixed polyposis syndrome (HMPS) is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas (CRC). (601228) (Updated 05-Apr-2021)

Related Diseases for Polyposis Syndrome, Hereditary Mixed, 1

Graphical network of the top 20 diseases related to Polyposis Syndrome, Hereditary Mixed, 1:



Diseases related to Polyposis Syndrome, Hereditary Mixed, 1

Symptoms & Phenotypes for Polyposis Syndrome, Hereditary Mixed, 1

Human phenotypes related to Polyposis Syndrome, Hereditary Mixed, 1:

31
# Description HPO Frequency HPO Source Accession
1 abnormal abdomen morphology 31 HP:0001438

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
atypical juvenile polyps
colonic adenomas
colorectal carcinomas
inflammatory and metaplastic polyps

Neoplasia:
atypical juvenile polyps
colonic adenomas
colorectal carcinomas
inflammatory and metaplastic polyps

Clinical features from OMIM®:

601228 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Polyposis Syndrome, Hereditary Mixed, 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.76 BUB1 BUB1B
2 Decreased substrate adherent cell growth GR00193-A-2 9.76 BUB1 BUB1B TTK
3 Decreased substrate adherent cell growth GR00193-A-3 9.76 BUB1
4 Decreased substrate adherent cell growth GR00193-A-4 9.76 BUB1 TTK
5 Decreased cell number GR00098-A-1 9.65 CENPE
6 Decreased cell number GR00303-A 9.65 BUB1B CENPE SGO1 TTK
7 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.13 BUB1B CETN3 ZW10
8 Increased number of mitotic cells GR00098-A-3 8.92 CDC20 CENPE NDC80 SGO1

MGI Mouse Phenotypes related to Polyposis Syndrome, Hereditary Mixed, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.65 BUB1 BUB1B CDC20 CENPE CETN2 CETN3
2 reproductive system MP:0005389 9.28 BUB1 BUB1B CDC20 CETN2 CETN3 GREM1

Drugs & Therapeutics for Polyposis Syndrome, Hereditary Mixed, 1

Drugs for Polyposis Syndrome, Hereditary Mixed, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 80)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clarithromycin Approved Phase 4 81103-11-9 84029
2 Anti-Infective Agents Phase 4
3 Cytochrome P-450 CYP3A Inhibitors Phase 4
4 Cytochrome P-450 Enzyme Inhibitors Phase 4
5 Anti-Bacterial Agents Phase 4
6
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
7
Celecoxib Approved, Investigational Phase 3 169590-42-5 2662
8
Sulindac Approved, Investigational Phase 3 38194-50-2 5352 1548887
9
Eflornithine Approved, Withdrawn Phase 3 70052-12-9 3009
10
Calcium carbonate Approved, Investigational Phase 3 471-34-1
11
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
12
Selenium Approved, Investigational, Vet_approved Phase 3 7782-49-2
13
Ornithine Approved, Nutraceutical Phase 3 70-26-8, 3184-13-2 6262
14
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453 134070
15 Omega 3 Fatty Acid Phase 2, Phase 3
16 Liver Extracts Phase 2, Phase 3
17 Cyclooxygenase 2 Inhibitors Phase 3
18 Antiparasitic Agents Phase 3
19 Antiprotozoal Agents Phase 3
20 Immunoglobulins Phase 3
21 Antibodies Phase 3
22 Immunologic Factors Phase 3
23 Trace Elements Phase 3
24 Nutrients Phase 3
25 Micronutrients Phase 3
26 Vitamins Phase 3
27 Hormones Phase 3
28 Calcium, Dietary Phase 3
29 Analgesics, Non-Narcotic Phase 3
30 Analgesics Phase 3
31 Cyclooxygenase Inhibitors Phase 3
32 Antirheumatic Agents Phase 3
33 Anti-Inflammatory Agents Phase 3
34 Anti-Inflammatory Agents, Non-Steroidal Phase 3
35 Gastrointestinal Agents Phase 3
36 Dihydroxycholecalciferols Phase 3
37 Vasoconstrictor Agents Phase 3
38 Fibrinolytic Agents Phase 3
39 Antacids Phase 3
40 Antipyretics Phase 3
41 Platelet Aggregation Inhibitors Phase 3
42 Anti-Ulcer Agents Phase 3
43 Antioxidants Phase 3
44 Protective Agents Phase 3
45
Calcium Nutraceutical Phase 3 7440-70-2 271
46
Metformin Approved Phase 2 657-24-9 4091 14219
47
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
48
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
49
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
50 Vitamin D2 Phase 2

Interventional clinical trials:

(show top 50) (show all 72)
# Name Status NCT ID Phase Drugs
1 Clinical Evidence-based Evaluation of the Efficacy of Xiaoai Jiedu Decoction in Preventing Colorectal Adenomatous Polyp Recurrence After Polypectomy Under Colonoscopy and Its Therapeutic Mechanism Unknown status NCT03616444 Phase 4 Xiaoai Jiedu Decoction
2 Prospective Comparison of NBI and i-Scan in Real-time Histological Prediction of Diminutive Colonic Polyps Completed NCT01133041 Phase 4
3 Effect of H. Pylori Eradication on the Fate of H. Pylori-associated Gastric Polyp (Randomized Controlled Study) Completed NCT03065868 Phase 4 H. pylori eradication (Amoxaxillin, Lanston, Clarithromycin)
4 Can Involvement of Endoscopy Nurse Participation Increase Adenoma Detection Rate During Screening Colonoscopy?:A Prospective Multicenter Randomized Trial Completed NCT01124266 Phase 4
5 The Effect of Two Dose Levels of Eicosapentaenoic Acid (EPA) on Apoptosis and Cell Proliferation in the Colonic Mucosa of Patients With a History of Colonic Polyps. Completed NCT00432913 Phase 2, Phase 3 Eicosapentaenoic Acid (EPA)
6 Clinical Protocol For a Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of Celecoxib (SC-58635) In The Prevention of Colorectal Sporadic Adenomatous Polyps (PRESAP) Completed NCT00141193 Phase 3 Celecoxib
7 A Phase III Randomized, Double-Blind, Placebo-Controlled Clinical Trial of the Combination of DFMO and Sulindac to Decrease the Rate of Recurrence of Adenomatous Polyps in the Colon Completed NCT00118365 Phase 3 eflornithine;sulindac
8 PD-1 Antibody for the Prevention of Adenomatous Polyps and Second Primary Tumors in Patients With Lynch Syndrome: An Open-label, Multicenter, Randomized Controlled Clinical Trial Recruiting NCT04711434 Phase 3 PD-1 Antibody
9 A Clinical Trial Evaluating the Efficacy and Safety of a Combination Treatment Administered Over 3 Years in Patients at Risk of Experiencing Recurrence of Colorectal Adenomas Terminated NCT00486512 Phase 3 0.5 mg calcitriol (1a -25-dihydroxycholecalciferol);75 mg acetylsalicylic acid (ASA) + 1250 mg calcium carbonate (CaCO3);placebo to 0.5 mg calcitriol (1a -25-dihydroxycholecalciferol);placebo to 75 mg acetylsalicylic acid (ASA) + 1250 mg calcium carbonate (CaCO3)
10 Phase III Study of the Effects of Selenium on Adenomatous Polyp Recurrence Terminated NCT00078897 Phase 3 Selenium
11 Calcium, Vitamin D, and Colon Cancer Risk Biomarkers Completed NCT00208793 Phase 2 Placebo
12 Fatty Acid Desaturase Activity, Fish Oil and Colorectal Cancer Prevention Completed NCT01661764 Phase 2 Eicosapentanoic acid and docosahexanoic acid;Oleic Acid
13 Randomized Phase II Trial of Aspirin and Difluoromethylornithine (DFMO) in Patients at High Risk of Colorectal Cancer Completed NCT00983580 Phase 2 Aspirin;Eflornithine
14 A Phase IIa Trial of Metformin for Colorectal Cancer Risk Reduction Among Patients With a History of Colorectal Adenomas and Elevated Body Mass Index Completed NCT01312467 Phase 2 metformin hydrochloride
15 Polyethylene Glycol for ACF Reduction and Biomarker Modulation in Individuals With CRC Risk Completed NCT00828984 Phase 2 macrogol 3350-based oral osmotic laxative
16 A Phase IIa Randomized, Double-Blind Trial of Erlotinib in Inhibiting EGF Receptor Signaling in Aberrant Crypt Foci of the Colon Completed NCT00754494 Phase 2 erlotinib hydrochloride
17 Study of Performance of Confocal Endomicroscope With Fluorescein Imaging Agent in the Colon Recruiting NCT03220711 Phase 1 Fluorescein
18 A Prospective Investigation of the ColubrisMX Endoluminal Surgical (ELS) System Active, not recruiting NCT04192565 Phase 1
19 Prospective Comparison of Capsule Endoscopy Pillcam II™ Versus Colonoscopy for the Detection of Adenomatous Polyps and Cancer in a High Risk Population Unknown status NCT01184781
20 Endoscopic Size Assessment of Advanced Adenomatous Polyps; Inter Observer Variations Unknown status NCT02193646
21 Resect and Discard Extension to Fuji Intelligent Color Enhancement (FICE) of Narrow Band Imaging International Colorectal Endoscopic (NicE) Classification Unknown status NCT02263144
22 Prospective Study for Evaluating Colon Polyp Histology With in Vivo Probe Based Confocal Laser Endomicroscopy Unknown status NCT01214031
23 A Prospective, Single Blinded Study for Predicting Colon Polyp Histology With Narrow Band Imaging Unknown status NCT00613262
24 Bioavailability of Phytoestrogens and Prevalence of Adenomatous Polyps in Human Colon Completed NCT03417258
25 Validating the Performance of Artificial Intelligence in Identifying Polyps in Real-world Colonoscopy Completed NCT03761771
26 The Effects of a High Legume Low Glycemic Index Diet on Insulin Resistance and Inflammation in Patients at High Risk for Colorectal Adenoma Recurrence Completed NCT00339469 Early Phase 1
27 "Resect and Discard" Approach to Diminutive Colonic Polyps: Real World Applicability Amongst Both Academic and Community Gastroenterologists Completed NCT01877525
28 I-scan Versus Standard High-Definition White Light for the Detection of Adenomatous Polyps Completed NCT02811419
29 Complete Histologic Resection of Adenomatous Polyps? (Complete Adenoma REsection Trial - CARE Trial) Completed NCT01224444
30 Multi-Target Colorectal Cancer Screening Test for the Detection of Colorectal Advanced Adenomatous Polyps and Cancer: DeeP-C Study Completed NCT01397747
31 Does Cap Assisted Colonoscopy Improve Detection of Adenomatous Polyps? (CAP Trial) Completed NCT01935180
32 Endocuff-assisted Colonoscopy: a Randomized Back-to-back Colonoscopy Study of Adenoma Detection. Completed NCT02374515
33 Calcium/Vitamin D, Biomarkers & Colon Polyp Prevention Completed NCT00399607
34 PLA Army General Hospital of Beijing Completed NCT03647176
35 The Effect of an Intensive Endoscopic Quality Improvement Program (EQUIP) on Improved Detection and Classification of Non-polypoid (Flat and Depressed) and Polypoid Colorectal Adenomas. ("EQUIP" Study) Completed NCT01415817
36 Endocuff vs Transparent Cap To Increase Adenoma Detection Rate During Colonoscopy Completed NCT03197987
37 A Randomized Controlled Trial to Evaluate Effectiveness and Safety of the Colonoscopy With the "Visualization" Balloon Completed NCT02117232
38 A Randomized Controlled Trial to Evaluate Effectiveness and Safety of the Endoscopic Removal of Large and Flat Colonic Polyps With LumenR RetractorTM (LR) as a Modified Colonic Overtube Completed NCT02051465
39 A Multicenter, Prospective, Randomized Controlled Trial for the Detection of Colon Polyps and Predicting Histology Completed NCT00614770
40 Accuracy of Narrow Band Imaging in Predicting Colonoscopy Surveillance Intervals and Histology of Distal Diminutive Polyps (Small Hyperplastic and Adenomatous Reliability Protocol; SHARP Trial) Completed NCT01675752
41 Single Incision Laparoscopic Surgery (SILS) for Colorectal Disease - A Novel Approach Completed NCT01656746
42 Use of Ambient Lighting During Colonoscopy and Its Effect on Adenoma Detection Rate and Eye Fatigue: a Pilot Study Completed NCT04441242
43 Screening of Colorectal Cancer Using Improved SEPT9 (Septin 9) Gene Methylation Assay in Chinese Population Completed NCT02540850
44 Traction Assisted Endoscopic Mucosa Resection (TAEMR) Completed NCT00966420
45 Prevalence and Topography of Adenomas in 40-49 Year Old Patients With a Family History of Colon Cancer Completed NCT02289053
46 Prospective Randomised Trial to Analyse the Advantages of the New Virtual Chromoendoscopy Features and the Variable Stiffness in Connection With Our Colonoscopic Examinations Completed NCT03234725
47 Screening for Colorectal Cancer in Average and High Risk Iraqi Population: A Pilot Study Completed NCT04017845 Early Phase 1 Tribenoside 400 mg + lidocaine 40 mg suppositories;Diltiazem hydrochloride 2%/Nitroglycerin rectal ointment
48 Stool KRAS Mutation, BMP3/NDRG4 Methylation and FIT Panel Test for the Detection of Colorectal Advanced Neoplasia in High Risk Chinese Patients Completed NCT04287335
49 Practice-Based Learning to Predict Polyp Histology at Colonoscopy: A Demonstration Project in Community Practice Completed NCT01638091
50 Computer Aided Detection of Polyps During Colonoscopy Procedures Completed NCT04195646

Search NIH Clinical Center for Polyposis Syndrome, Hereditary Mixed, 1

Genetic Tests for Polyposis Syndrome, Hereditary Mixed, 1

Genetic tests related to Polyposis Syndrome, Hereditary Mixed, 1:

# Genetic test Affiliating Genes
1 Hereditary Mixed Polyposis Syndrome 1 29
2 Colorectal Cancer 4 29

Anatomical Context for Polyposis Syndrome, Hereditary Mixed, 1

MalaCards organs/tissues related to Polyposis Syndrome, Hereditary Mixed, 1:

40
Colon, Liver, Eye, Cortex, Lung, Breast, Prostate

Publications for Polyposis Syndrome, Hereditary Mixed, 1

Articles related to Polyposis Syndrome, Hereditary Mixed, 1:

(show all 30)
# Title Authors PMID Year
1
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. 6 57
22561515 2012
2
Genome-wide linkage analyses of hereditary prostate cancer families with colon cancer provide further evidence for a susceptibility locus on 15q11-q14. 57
20407467 2010
3
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. 57
18372905 2008
4
Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. 57
18084292 2008
5
An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome. 57
12696020 2003
6
A distinct tumor suppressor gene locus on chromosome 15q21.1 in sporadic form of colorectal cancer. 57
10646855 2000
7
Inherited susceptibility to colorectal adenomas and carcinomas: evidence for a new predisposition gene on 15q14-q22. 57
10092300 1999
8
Clinical and molecular features of the hereditary mixed polyposis syndrome. 57
9024286 1997
9
Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q. 57
8644741 1996
10
TTK inhibitor promotes radiosensitivity of liver cancer cells through p21. 61
33689884 2021
11
Dual TTK/CLK2 inhibitor, CC-671, selectively antagonizes ABCG2-mediated multidrug resistance in lung cancer cells. 61
32478948 2020
12
Requirement for human Mps1/TTK in oxidative DNA damage repair and cell survival through MDM2 phosphorylation. 61
26531827 2016
13
TTK activates Akt and promotes proliferation and migration of hepatocellular carcinoma cells. 61
26418879 2015
14
Phosphorylation at threonine 288 by cell cycle checkpoint kinase 2 (CHK2) controls human monopolar spindle 1 (Mps1) kinetochore localization. 61
24764296 2014
15
TTK/hMPS1 is an attractive therapeutic target for triple-negative breast cancer. 61
23700430 2013
16
Quantitative mass spectrometry analysis reveals similar substrate consensus motif for human Mps1 kinase and Plk1. 61
21533207 2011
17
Mip1 associates with both the Mps1 kinase and actin, and is required for cell cortex stability and anaphase spindle positioning. 61
21325884 2011
18
Dynein/Dynactin-mediated transport of kinetochore components off kinetochores and onto spindle poles induced by nordihydroguaiaretic acid. 61
21305043 2011
19
TTK/hMps1 mediates the p53-dependent postmitotic checkpoint by phosphorylating p53 at Thr18. 61
19332559 2009
20
The cell cycle checkpoint kinase CHK2 mediates DNA damage-induced stabilization of TTK/hMps1. 61
19151762 2009
21
Mps1 activation loop autophosphorylation enhances kinase activity. 61
17728254 2007
22
Clinicopathological characteristics of colorectal cancer with family history: an evaluation of family history as a predictive factor for microsatellite instability. 61
17923762 2007
23
CENP-F is a novel microtubule-binding protein that is essential for kinetochore attachments and affects the duration of the mitotic checkpoint delay. 61
16601978 2006
24
DNA damage-induced expression of p53 suppresses mitotic checkpoint kinase hMps1: the lack of this suppression in p53MUT cells contributes to apoptosis. 61
16446370 2006
25
Analysis of Aurora-A and hMPS1 mitotic kinases in mantle cell lymphoma. 61
16080195 2006
26
TTK/hMps1 participates in the regulation of DNA damage checkpoint response by phosphorylating CHK2 on threonine 68. 61
15618221 2005
27
Kinetochore localization and microtubule interaction of the human spindle checkpoint kinase Mps1. 61
15235793 2004
28
Human Mps1 protein kinase is required for centrosome duplication and normal mitotic progression. 61
14657364 2003
29
Human MPS1 kinase is required for mitotic arrest induced by the loss of CENP-E from kinetochores. 61
12686615 2003
30
Human Mps1 kinase is required for the spindle assembly checkpoint but not for centrosome duplication. 61
11927556 2002

Variations for Polyposis Syndrome, Hereditary Mixed, 1

ClinVar genetic disease variations for Polyposis Syndrome, Hereditary Mixed, 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 3 genes NC_000015.9:g.32964938_33004759dup Duplication Pathogenic 38805 GRCh37: 15:32964938-33004759
GRCh38: 15:32672737-32712558

Cosmic variations for Polyposis Syndrome, Hereditary Mixed, 1:

9 (show top 50) (show all 54799)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88263736 ZRSR2 large intestine,colon,carcinoma,adenocarcinoma c.553G>T p.D185Y 23:15809314-15809314 4
2 COSM88261539 ZRSR2 large intestine,colon,carcinoma,adenocarcinoma c.917G>A p.R306Q 23:15820296-15820296 4
3 COSM95950816 ZNHIT6 large intestine,colon,carcinoma,adenocarcinoma c.1364T>A p.L455H 1:85657855-85657855 4
4 COSM110240486 ZNHIT6 large intestine,colon,carcinoma,adenocarcinoma c.1247T>A p.L416H 1:85657855-85657855 4
5 COSM86861594 ZNHIT1 large intestine,colon,carcinoma,adenocarcinoma c.400C>T p.R134W 7:101223799-101223799 4
6 COSM98771566 ZNF813 large intestine,colon,carcinoma,adenocarcinoma c.1639G>A p.G547R 19:53491871-53491871 4
7 COSM91871130 ZNF536 large intestine,colon,carcinoma,adenocarcinoma c.1158G>T p.W386C 19:30444720-30444720 4
8 COSM91870713 ZNF536 large intestine,colon,carcinoma,adenocarcinoma c.2533C>G p.L845V 19:30548152-30548152 4
9 COSM94777824 ZNF521 large intestine,colon,carcinoma,adenocarcinoma c.3524C>T p.T1175M 18:25224394-25224394 4
10 COSM131481019 ZNF521 large intestine,rectum,carcinoma,adenocarcinoma c.799G>C p.E267Q 18:25227119-25227119 4
11 COSM94774956 ZNF521 large intestine,rectum,carcinoma,adenocarcinoma c.799G>C p.E267Q 18:25227119-25227119 4
12 COSM140705261 ZNF521 large intestine,colon,carcinoma,adenocarcinoma c.2864C>T p.T955M 18:25224394-25224394 4
13 COSM140703236 ZNF521 large intestine,rectum,carcinoma,adenocarcinoma c.139G>C p.E47Q 18:25227119-25227119 4
14 COSM131484378 ZNF521 large intestine,colon,carcinoma,adenocarcinoma c.3524C>T p.T1175M 18:25224394-25224394 4
15 COSM86916483 ZNF280D large intestine,colon,carcinoma,adenocarcinoma c.2020A>C p.R674= 15:56658461-56658461 4
16 COSM136198199 ZNF280D large intestine,colon,carcinoma,adenocarcinoma c.1981A>C p.R661= 15:56658461-56658461 4
17 COSM84512904 ZNF276 large intestine,colon,carcinoma,adenocarcinoma c.*438C>T p.? 16:89738684-89738684 4
18 COSM84507966 ZNF276 large intestine,colon,carcinoma,adenocarcinoma c.*664G>A p.? 16:89738910-89738910 4
19 COSM95251466 ZNF217 large intestine,colon,carcinoma,adenocarcinoma c.967G>A p.D323N 20:53581860-53581860 4
20 COSM88695903 ZNF217 large intestine,colon,carcinoma,adenocarcinoma c.967G>A p.D323N 20:53581860-53581860 4
21 COSM88697637 ZNF155 large intestine,colon,carcinoma,adenocarcinoma c.1421A>G p.H474R 19:43997278-43997278 4
22 COSM141944208 ZNF155 large intestine,colon,carcinoma,adenocarcinoma c.1421A>G p.H474R 19:43997278-43997278 4
23 COSM105811781 ZNF155 large intestine,colon,carcinoma,adenocarcinoma c.1454A>G p.H485R 19:43997278-43997278 4
24 COSM140959108 ZNF155 large intestine,colon,carcinoma,adenocarcinoma c.1421A>G p.H474R 19:43997278-43997278 4
25 COSM110017805 ZMIZ2 large intestine,colon,carcinoma,adenocarcinoma c.1850G>A p.R617H 7:44763403-44763403 4
26 COSM110177741 ZMIZ2 large intestine,colon,carcinoma,adenocarcinoma c.1754G>A p.R585H 7:44763403-44763403 4
27 COSM142570150 ZMIZ2 large intestine,colon,carcinoma,adenocarcinoma c.1859G>A p.R620H 7:44763403-44763403 4
28 COSM102902058 ZMIZ2 large intestine,colon,carcinoma,adenocarcinoma c.1676G>A p.R559H 7:44763403-44763403 4
29 COSM89535029 ZMIZ2 large intestine,colon,carcinoma,adenocarcinoma c.1850G>A p.R617H 7:44763403-44763403 4
30 COSM84914866 ZMIZ2 large intestine,colon,carcinoma,adenocarcinoma c.1772G>A p.R591H 7:44763403-44763403 4
31 COSM127394330 ZFHX4 large intestine,rectum,carcinoma,adenocarcinoma c.8291C>T p.P2764L 8:76855212-76855212 4
32 COSM127388315 ZFHX4 large intestine,colon,carcinoma,adenocarcinoma c.681C>A p.F227L 8:76704769-76704769 4
33 COSM125167414 ZFHX4 large intestine,rectum,carcinoma,adenocarcinoma c.8213C>T p.P2738L 8:76855212-76855212 4
34 COSM125161701 ZFHX4 large intestine,colon,carcinoma,adenocarcinoma c.681C>A p.F227L 8:76704769-76704769 4
35 COSM102026679 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.4748C>T p.S1583L 16:72795192-72795192 4
36 COSM149275347 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7928G>A p.R2643H 16:72794754-72794754 4
37 COSM87283250 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.7279G>A p.D2427N 16:72795403-72795403 4
38 COSM87290885 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.8875A>G p.K2959E 16:72793807-72793807 4
39 COSM102030577 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2813A>C p.Q938P 16:72797127-72797127 4
40 COSM102039141 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.6725G>A p.S2242N 16:72788809-72788809 4
41 COSM102047808 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7255C>A p.Q2419K 16:72788279-72788279 4
42 COSM87287972 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7381G>A p.E2461K 16:72795301-72795301 4
43 COSM149294291 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.392G>T p.G131V 16:72959754-72959754 4
44 COSM102035995 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.-23-7558G>C p.? 16:72958523-72958523 4
45 COSM102038517 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.4639G>A p.E1547K 16:72795301-72795301 4
46 COSM149316595 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.4628G>A p.R1543H 16:72798054-72798054 4
47 COSM149297634 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.9227T>G p.M3076R 16:72793455-72793455 4
48 COSM87287954 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7804A>G p.T2602A 16:72794878-72794878 4
49 COSM149331878 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2548C>A p.L850I 16:72957598-72957598 4
50 COSM87296576 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.9997C>A p.Q3333K 16:72788279-72788279 4

Expression for Polyposis Syndrome, Hereditary Mixed, 1

Search GEO for disease gene expression data for Polyposis Syndrome, Hereditary Mixed, 1.

Pathways for Polyposis Syndrome, Hereditary Mixed, 1

GO Terms for Polyposis Syndrome, Hereditary Mixed, 1

Cellular components related to Polyposis Syndrome, Hereditary Mixed, 1 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.31 ZW10 SGO1 SASS6 PHF7 NDC80 MIS12
2 cytoskeleton GO:0005856 10.02 ZW10 SGO1 SASS6 CETN3 CETN2 CEP76
3 chromosome GO:0005694 9.98 ZW10 SGO1 NDC80 MIS12 CENPE BUB1B
4 microtubule organizing center GO:0005815 9.91 SGO1 SASS6 CETN3 CETN2 CEP76 CDC20
5 spindle GO:0005819 9.88 ZW10 TTK CENPE CDC20 BUB1B
6 centrosome GO:0005813 9.86 SGO1 SASS6 NDC80 CETN3 CETN2 CEP76
7 centriole GO:0005814 9.8 SASS6 CETN3 CETN2 CEP76 CEP135
8 spindle pole GO:0000922 9.73 ZW10 SGO1 CDC20
9 chromosome, centromeric region GO:0000775 9.7 ZW10 SGO1 NDC80 MIS12 CENPE BUB1B
10 condensed nuclear chromosome kinetochore GO:0000778 9.63 NDC80 BUB1B BUB1
11 condensed chromosome, centromeric region GO:0000779 9.58 SGO1 CENPE
12 anaphase-promoting complex GO:0005680 9.57 CDC20 BUB1B
13 nuclear pore nuclear basket GO:0044615 9.55 CETN3 CETN2
14 kinetochore microtubule GO:0005828 9.54 ZW10 CENPE
15 transcription export complex 2 GO:0070390 9.52 CETN3 CETN2
16 condensed nuclear chromosome outer kinetochore GO:0000942 9.51 NDC80 BUB1
17 condensed chromosome kinetochore GO:0000777 9.5 ZW10 SGO1 NDC80 MIS12 CENPE BUB1B
18 kinetochore GO:0000776 9.23 ZW10 TTK SGO1 NDC80 MIS12 CENPE

Biological processes related to Polyposis Syndrome, Hereditary Mixed, 1 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 mitotic cell cycle GO:0000278 9.8 ZW10 NDC80 MIS12 CETN2 CENPE BUB1B
2 G2/M transition of mitotic cell cycle GO:0000086 9.77 CETN2 CEP76 CEP135
3 ciliary basal body-plasma membrane docking GO:0097711 9.73 CETN2 CEP76 CEP135
4 chromosome segregation GO:0007059 9.73 TTK SGO1 NDC80 MIS12 CENPE BUB1
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.7 CETN2 CEP76 CEP135
6 cell cycle GO:0007049 9.7 ZW10 SGO1 SASS6 NDC80 MIS12 CETN3
7 mitotic spindle organization GO:0007052 9.69 TTK NDC80 CENPE
8 mitotic sister chromatid segregation GO:0000070 9.67 ZW10 SGO1 NDC80 MIS12
9 centriole replication GO:0007099 9.65 SASS6 CETN2 CEP135
10 mitotic cell cycle checkpoint GO:0007093 9.63 TTK BUB1B BUB1
11 protein localization to kinetochore GO:0034501 9.61 ZW10 TTK MIS12
12 establishment of mitotic spindle orientation GO:0000132 9.6 ZW10 NDC80
13 centrosome duplication GO:0051298 9.58 SASS6 NDC80
14 kinetochore assembly GO:0051382 9.58 MIS12 CENPE
15 attachment of mitotic spindle microtubules to kinetochore GO:0051315 9.58 NDC80 MIS12 CENPE
16 metaphase plate congression GO:0051310 9.57 NDC80 CENPE
17 centriole-centriole cohesion GO:0010457 9.55 SGO1 CEP135
18 mitotic spindle assembly checkpoint GO:0007094 9.55 ZW10 TTK CDC20 BUB1B BUB1
19 attachment of spindle microtubules to kinetochore GO:0008608 9.54 SGO1 NDC80
20 meiotic sister chromatid cohesion, centromeric GO:0051754 9.49 BUB1B BUB1
21 cell division GO:0051301 9.32 ZW10 SGO1 NDC80 MIS12 CETN3 CETN2

Molecular functions related to Polyposis Syndrome, Hereditary Mixed, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 ZW10 TTK SGO1 SASS6 PHF7 NDC80
2 G-protein beta/gamma-subunit complex binding GO:0031683 9.16 CETN3 CETN2
3 kinetochore binding GO:0043515 8.62 TTK CENPE

Sources for Polyposis Syndrome, Hereditary Mixed, 1

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