MCID: PLY162
MIFTS: 41

Polyposis Syndrome, Hereditary Mixed, 1

Categories: Cancer diseases, Genetic diseases, Gastrointestinal 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 73
Polyposis Syndrome, Mixed Hereditary 1 57 75 13
Colorectal Cancer 4 57 75 29
Hereditary Mixed Polyposis Syndrome 1 29 6
Colorectal Adenoma and Carcinoma 1 57 75
Adenomatous Polyps 44 73
Hmps1 57 75
Crac1 57 75
Susceptibility to Colorectal Cancer on Chromosome 15 75
Chromosome 15q13-Q14 Duplication Syndrome, 40-Kb 57
Colorectal Adenoma and Carcinoma 1; Crac1 57
Colorectal Cancer, Susceptibility to, 4 57
Crcs4 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
polyposis syndrome, hereditary mixed, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601228
SNOMED-CT via HPO 69 263681008

Summaries for Polyposis Syndrome, Hereditary Mixed, 1

UniProtKB/Swiss-Prot : 75 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 polyposis syndrome, mixed hereditary 1, is related to familial adenomatous polyposis and adenocarcinoma. 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 Pathways in cancer and Colorectal Cancer Metastasis. Affiliated tissues include colon, testes and prostate, and related phenotypes are abnormality of abdomen morphology and Increased shRNA abundance

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

Related Diseases for Polyposis Syndrome, Hereditary Mixed, 1

Diseases in the Hereditary Mixed Polyposis Syndrome family:

Polyposis Syndrome, Hereditary Mixed, 1 Polyposis Syndrome, Hereditary Mixed, 2

Diseases related to Polyposis Syndrome, Hereditary Mixed, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 29.4 APC MLH1 MUTYH PTGS2
2 adenocarcinoma 28.8 APC MLH1 PTGS2
3 colorectal cancer 26.5 APC MLH1 MUC6 MUTYH PTGS2
4 colorectal cancer, hereditary nonpolyposis, type 4 11.7
5 familial adenomatous polyposis 1 11.2
6 colon adenoma 11.1
7 cervical polyp 11.1
8 familial adenomatous polyposis 2 11.1
9 familial adenomatous polyposis 3 11.1
10 familial adenomatous polyposis 4 11.1
11 hyperplastic polyposis syndrome 10.2 APC MUTYH
12 attenuated familial adenomatous polyposis 10.2 APC MUTYH
13 mutyh-associated polyposis 10.2 APC MUTYH
14 duodenum cancer 10.0 MUC6 MUTYH
15 anal squamous cell carcinoma 10.0 APC MLH1
16 atypical polypoid adenomyoma 10.0 MLH1 MUC6
17 adenomyoma 9.9 MLH1 MUC6
18 mantle cell lymphoma 9.9
19 lymphoma 9.9
20 mismatch repair cancer syndrome 9.9 APC MLH1
21 muir-torre syndrome 9.8 MLH1 MUTYH
22 cell type benign neoplasm 9.8 MLH1 MUTYH
23 autosomal genetic disease 9.7 MLH1 MUTYH
24 gastric tubular adenocarcinoma 9.6 MUC6 PTGS2
25 rectal neoplasm 9.6 MLH1 MUTYH
26 hereditary mixed polyposis syndrome 9.5 GREM1 PTGS2 SCG5
27 lynch syndrome 9.5 APC MLH1 MUTYH
28 small intestine cancer 9.4 MLH1 MUC6 MUTYH
29 colorectal adenocarcinoma 9.4 MLH1 PTGS2
30 juvenile polyposis syndrome 9.2 APC MUTYH PTGS2
31 barrett esophagus 9.2 APC MUC6 PTGS2
32 colon adenocarcinoma 9.1 MLH1 PTGS2
33 familial colorectal cancer 9.1 APC GREM1 MLH1 MUTYH
34 gastrointestinal system benign neoplasm 9.1 MLH1 MUTYH PTGS2
35 adamantinoma of long bones 9.1 APC MLH1 PTGS2
36 gastrointestinal system cancer 9.0 MLH1 MUTYH PTGS2
37 gastritis 9.0 MUC6 PTGS2
38 gastric adenocarcinoma 9.0 APC MLH1 PTGS2
39 gastric cancer 8.8 APC MLH1 MUC6 MUTYH
40 intestinal benign neoplasm 8.5 APC MLH1 MUTYH PTGS2
41 colorectal adenoma 8.5 APC MLH1 MUTYH PTGS2
42 adenoma 8.5 APC MLH1 MUTYH PTGS2

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

Symptoms via clinical synopsis from OMIM:

57
GI:
atypical juvenile polyps (174900)
colonic adenomas
colorectal carcinomas
inflammatory and metaplastic polyps

Misc:
? variant of juvenile polyposis


Clinical features from OMIM:

601228

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

32
# Description HPO Frequency HPO Source Accession
1 abnormality of abdomen morphology 32 HP:0001438

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 Increased shRNA abundance GR00327-A 8.8 APC MLH1 MUTYH

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 APC GREM1 MLH1 MUTYH PTGS2 SCG5
2 mortality/aging MP:0010768 9.73 APC GREM1 MLH1 MUTYH PTGS2 SCG5
3 neoplasm MP:0002006 9.46 APC MLH1 MUTYH PTGS2
4 reproductive system MP:0005389 9.35 SCG5 APC GREM1 MLH1 PTGS2
5 respiratory system MP:0005388 8.92 GREM1 MLH1 PTGS2 SCG5

Drugs & Therapeutics for Polyposis Syndrome, Hereditary Mixed, 1

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

Cochrane evidence based reviews: adenomatous polyps

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:

41
Colon, Testes, Prostate

Publications for Polyposis Syndrome, Hereditary Mixed, 1

Articles related to Polyposis Syndrome, Hereditary Mixed, 1:

(show top 50) (show all 52)
# Title Authors Year
1
Vitamin D Receptor Polymorphisms Relate to Risk of Adenomatous Polyps in a Sex-Specific Manner. ( 26904920 )
2016
2
Gene-Nutrient Interaction between Folate and Dihydrofolate Reductase in Risk for Adenomatous Polyp Occurrence: A Preliminary Report. ( 26875486 )
2015
3
Genetic Variation in Glutamate Carboxypeptidase II and Interaction with Dietary Natural Vitamin C May Predict Risk for Adenomatous Polyp Occurrence. ( 26028103 )
2015
4
Active Helicobacter pylori infection on colorectal mucosa - adenomatous polyp - adenocarcinoma sequence. ( 24366453 )
2014
5
Cronkhite-Canada Syndrome: an unusual finding of gastro-intestinal adenomatous polyps in a syndrome characterized by hamartomatous polyps. ( 24982130 )
2014
6
Obesity and colorectal adenomatous polyps: a cross-sectional study in Korean adults. ( 23512944 )
2014
7
Predictive gene signatures: molecular markers distinguishing colon adenomatous polyp and carcinoma. ( 25423035 )
2014
8
Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) - update 2012. ( 22872101 )
2013
9
Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review. ( 23007840 )
2013
10
Active Helicobacter pylori infection is associated with colorectal mucosa - adenomatous polyp - early and advanced adenocarcinoma sequence. ( 24299055 )
2013
11
Invasive adenocarcinoma arising from a mixed hyperplastic/adenomatous polyp and synchronous transverse colon cancer. ( 23984814 )
2013
12
Increase in circulating levels of IGF-1 and IGF-1/IGFBP-3 molar ratio over a decade is associated with colorectal adenomatous polyps. ( 21898383 )
2012
13
Loss of sensory and noradrenergic innervation in benign colorectal adenomatous polyps--a putative role of semaphorins 3F and 3A. ( 22093159 )
2012
14
Images in emergency medicine. Young man with abdominal pain. Large bowel intussusception caused by an adenomatous polyp. ( 22340812 )
2012
15
Correlation of polypoid colorectal adenocarcinoma with pre-existing adenomatous polyps and KRAS mutation. ( 21665177 )
2011
16
A higher detection rate for colorectal cancer and advanced adenomatous polyp for screening with immunochemical fecal occult blood test than guaiac fecal occult blood test, despite lower compliance rate. A prospective, controlled, feasibility study. ( 20658527 )
2011
17
IL-23/IL-23R: potential mediator of intestinal tumor progression from adenomatous polyps to colorectal carcinoma. ( 21547355 )
2011
18
The association between arterial stiffness and colorectal adenomatous polyp in women. ( 21453035 )
2011
19
TAS2R38 bitter taste genetics, dietary vitamin C, and both natural and synthetic dietary folic acid predict folate status, a key micronutrient in the pathoaetiology of adenomatous polyps. ( 21769326 )
2011
20
Association of the DNMT3B polymorphism with colorectal adenomatous polyps and adenocarcinoma. ( 19626461 )
2010
21
Relation between obesity and adenomatous polyps of the large bowel. ( 19691761 )
2009
22
[Analysis of serum gastrin levels in patients with adenomatous polyps of the colon]. ( 19606697 )
2009
23
COX-2 expression in sporadic colorectal adenomatous polyps is linked to adenoma characteristics. ( 18462368 )
2008
24
Disease-associated casein kinase I delta mutation may promote adenomatous polyps formation via a Wnt/beta-catenin independent mechanism. ( 17131344 )
2007
25
Absence of MutY homologue mutation in patients with multiple sporadic adenomatous polyps in Korea. ( 16521226 )
2006
26
Celecoxib for the prevention of colorectal adenomatous polyps. ( 16943401 )
2006
27
Adenomatous polyp of the verumontanum accompanied by parabulbous epidermoid cyst and cryptorchidism in an adult male. ( 16888430 )
2006
28
Chromosomal instability in MYH- and APC-mutant adenomatous polyps. ( 16510566 )
2006
29
Cyclooxygenase 2, p53, beta-catenin, and APC protein expression in gastric adenomatous polyps. ( 15716238 )
2005
30
Insulin-like growth factor-I and insulin are associated with the presence and advancement of adenomatous polyps. ( 16083703 )
2005
31
Dietary calcium supplementation for preventing colorectal cancer and adenomatous polyps. ( 14974021 )
2004
32
Somatic mutations in familial adenomatous polyps. Nuclear translocation of beta-catenin requires more than biallelic APC inactivation. ( 14502807 )
2003
33
Expression of histidine decarboxylase in human colonic cancer cells and adenomatous polyps. ( 12755419 )
2003
34
Frequent loss of hMLH1 by promoter hypermethylation leads to microsatellite instability in adenomatous polyps of patients with a single first-degree member affected by colon cancer. ( 12591727 )
2003
35
The APC E1317Q variant in adenomatous polyps and colorectal cancers. ( 14578138 )
2003
36
The effect of high doses of folic acid on the overexpression of ornithine decarboxylase and S-adenosylmethionine content in human colon adenomatous polyps. ( 11795438 )
2001
37
Urinary cytologic findings in patients with benign and malignant adenomatous polyps of the prostatic urethra. ( 10888782 )
2000
38
Effect of aspirin on prostaglandin E2 formation and transforming growth factor alpha expression in human rectal mucosa from individuals with a history of adenomatous polyps of the colon. ( 10207634 )
1999
39
Enhanced intestinal adenomatous polyp formation in Pms2-/-;Min mice. ( 9515784 )
1998
40
Hierarchical modeling of gene-environment interactions: estimating NAT2 genotype-specific dietary effects on adenomatous polyps. ( 9149889 )
1997
41
Differential activation of total and EGF receptor (EGF-R) tyrosine kinase (tyr-k) in the rectal mucosa in patients with adenomatous polyps, ulcerative colitis and colon cancer. ( 9164515 )
1997
42
Effects of sulindac on sporadic colorectal adenomatous polyps. ( 9135523 )
1997
43
Proliferative activity of mixed hyperplastic adenomatous polyp/serrated adenoma in the large intestine, measured by PCNA (proliferating cell nuclear antigen). ( 8680540 )
1996
44
Expression of variant CD44-messenger RNA in colorectal adenocarcinomas and adenomatous polyps in humans. ( 8566581 )
1996
45
A human homologue of the rat metastasis-associated variant of CD44 is expressed in colorectal carcinomas and adenomatous polyps. ( 8416989 )
1993
46
Myb expression is higher in malignant human colonic carcinoma and premalignant adenomatous polyps than in normal mucosa. ( 1445802 )
1992
47
Failure of rectal ornithine decarboxylase to identify adenomatous polyp status. ( 1426875 )
1992
48
Fecal ammonia in patients with adenomatous polyps and cancer of the colon. ( 1437654 )
1992
49
Differential activation of ornithine decarboxylase and tyrosine kinase in the rectal mucosa of patients with hyperplastic and adenomatous polyps. ( 2019359 )
1991
50
Supplemental calcium suppresses colonic mucosal ornithine decarboxylase activity in elderly patients with adenomatous polyps. ( 1711410 )
1991

Variations for Polyposis Syndrome, Hereditary Mixed, 1

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCG5 NC_000015.10: g.32672737_32712558dup duplication Pathogenic GRCh37 Chromosome 15, 32964938: 33004759
2 SCG5 NC_000015.10: g.32672737_32712558dup duplication Pathogenic GRCh38 Chromosome 15, 32672737: 32712558

Cosmic variations for Polyposis Syndrome, Hereditary Mixed, 1:

9
(show top 50) (show all 18865)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM33066 ZZZ3 large intestine,colon,carcinoma,adenocarcinoma c.1366C>T p.P456S 1:77631989-77631989 8
2 COSM6940205 ZRSR2 large intestine,colon,carcinoma,adenocarcinoma c.553G>T p.D185Y 23:15809314-15809314 8
3 COSM6452015 ZRSR2 large intestine,colon,carcinoma,adenocarcinoma c.917G>A p.R306Q 23:15820296-15820296 8
4 COSM33067 ZNHIT6 large intestine,colon,carcinoma,adenocarcinoma c.1364T>A p.L455H 1:85657855-85657855 8
5 COSM32824 ZNHIT1 large intestine,colon,carcinoma,adenocarcinoma c.400C>T p.R134W 7:101223799-101223799 8
6 COSM50818 ZNF813 large intestine,colon,carcinoma,adenocarcinoma c.1636G>A p.G546R 19:53491871-53491871 8
7 COSM50465 ZNF536 large intestine,colon,carcinoma,adenocarcinoma c.1158G>T p.W386C 19:30444720-30444720 8
8 COSM50466 ZNF536 large intestine,colon,carcinoma,adenocarcinoma c.2533C>G p.L845V 19:30548152-30548152 8
9 COSM50281 ZNF521 large intestine,colon,carcinoma,adenocarcinoma c.3524C>T p.T1175M 18:25224394-25224394 8
10 COSM50969 ZNF280D large intestine,colon,carcinoma,adenocarcinoma c.2020A>C p.R674R 15:56658461-56658461 8
11 COSM32994 ZNF217 large intestine,colon,carcinoma,adenocarcinoma c.967G>A p.D323N 20:53581860-53581860 8
12 COSM32679 ZNF155 large intestine,colon,carcinoma,adenocarcinoma c.1421A>G p.H474R 19:43997278-43997278 8
13 COSM50671 ZMIZ2 large intestine,colon,carcinoma,adenocarcinoma c.1850G>A p.R617H 7:44763403-44763403 8
14 COSM50764 ZFHX4 large intestine,colon,carcinoma,adenocarcinoma c.681C>A p.F227L 8:76704769-76704769 8
15 COSM6964399 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2339C>T p.A780V 16:72957807-72957807 8
16 COSM6944275 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2324C>T p.A775V 16:72957822-72957822 8
17 COSM6957094 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.3412A>T p.I1138F 16:72889767-72889767 8
18 COSM6953704 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.1623G>C p.Q541H 16:72958523-72958523 8
19 COSM6845173 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.3863C>T p.T1288M 16:72811578-72811578 8
20 COSM973505 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7928G>A p.R2643H 16:72794754-72794754 8
21 COSM6964664 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2318C>T p.A773V 16:72957828-72957828 8
22 COSM6939325 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.9997C>A p.Q3333K 16:72788279-72788279 8
23 COSM6845177 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7490C>T p.S2497L 16:72795192-72795192 8
24 COSM6941798 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.10754C>G p.S3585C 16:72787522-72787522 8
25 COSM6941382 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.392G>T p.G131V 16:72959754-72959754 8
26 COSM6964606 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.5555A>C p.Q1852P 16:72797127-72797127 8
27 COSM6939326 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.4242A>C p.E1414D 16:72798440-72798440 8
28 COSM6964400 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.500C>T p.P167L 16:72959646-72959646 8
29 COSM6941989 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.4251G>C p.Q1417H 16:72798431-72798431 8
30 COSM6941490 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.10415C>T p.A3472V 16:72787861-72787861 8
31 COSM6955210 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7381G>A p.E2461K 16:72795301-72795301 8
32 COSM4062694 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.10346C>T p.A3449V 16:72787930-72787930 8
33 COSM6955208 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7804A>G p.T2602A 16:72794878-72794878 8
34 COSM6942790 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.1532C>A p.P511H 16:72958614-72958614 8
35 COSM6977044 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.3367C>T p.R1123W 16:72889812-72889812 8
36 COSM6956224 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.950T>A p.L317H 16:72959196-72959196 8
37 COSM6941990 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.1081G>A p.G361R 16:72959065-72959065 8
38 COSM6978946 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.9227T>G p.M3076R 16:72793455-72793455 8
39 COSM6927022 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2822C>T p.S941L 16:72950863-72950863 8
40 COSM6959968 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2548C>A p.L850I 16:72957598-72957598 8
41 COSM6950051 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.1238C>A p.T413N 16:72958908-72958908 8
42 COSM4062703 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.8968G>A p.V2990I 16:72793714-72793714 8
43 COSM6974762 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.9467G>A p.S3156N 16:72788809-72788809 8
44 COSM3276831 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.6296C>T p.P2099L 16:72796386-72796386 8
45 COSM6845159 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.3829G>A p.V1277M 16:72811612-72811612 8
46 COSM6955209 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7666G>A p.A2556T 16:72795016-72795016 8
47 COSM33074 ZEB2 large intestine,colon,carcinoma,adenocarcinoma c.2947G>A p.D983N 2:144396532-144396532 8
48 COSM32424 ZDHHC7 large intestine,colon,carcinoma,adenocarcinoma c.130G>A p.D44N 16:84990489-84990489 8
49 COSM32851 ZBTB46 large intestine,colon,carcinoma,adenocarcinoma c.25G>T p.E9* 20:63790733-63790733 8
50 COSM33142 YIPF1 large intestine,colon,carcinoma,adenocarcinoma c.475C>T p.R159* 1:53871378-53871378 8

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

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

# Super pathways Score Top Affiliating Genes
1 12.05 APC MLH1 PTGS2
2 11.02 APC MLH1 PTGS2
3 10.91 GREM1 PTGS2

GO Terms for Polyposis Syndrome, Hereditary Mixed, 1

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.33 APC MLH1 MUTYH
2 positive regulation of cell death GO:0010942 8.96 APC PTGS2
3 mismatch repair GO:0006298 8.62 MLH1 MUTYH

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

# Name GO ID Score Top Affiliating Genes
1 MutSalpha complex binding GO:0032407 8.62 MLH1 MUTYH

Sources for Polyposis Syndrome, Hereditary Mixed, 1

3 CDC
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11 DGIdb
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