MCID: MTY001
MIFTS: 42

Mutyh-Associated Polyposis

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Mutyh-Associated Polyposis

MalaCards integrated aliases for Mutyh-Associated Polyposis:

Name: Mutyh-Associated Polyposis 23
Myh-Associated Polyposis 23 49 28
Colorectal Adenomatous Polyposis, Autosomal Recessive 23
Autosomal Recessive Familial Adenomatous Polyposis 49
Multiple Colorectal Adenomas, Autosomal Recessive 23
Autosomal Recessive Multiple Colorectal Adenomas 49
Adenomatous Polyposis Coli 69
Mutyh-Associate Polyposis 69
Map Syndrome 49

Characteristics:

GeneReviews:

23
Penetrance Among nearly 20,000 controls tested to date, only one unaffected individual with biallelic germline mutyh pathogenic variants has been reported [lubbe et al 2009, nielsen et al 2011]...

Classifications:



External Ids:

UMLS 69 C3272841

Summaries for Mutyh-Associated Polyposis

NIH Rare Diseases : 49 MYH-associated polyposis is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer. This condition, a milder form of familial adenomatous polyposis (FAP), is sometimes called autosomal recessivefamilial adenomatous polyposis because it is inherited in an autosomal recessive manner. People with this condition have fewer polyps than those with the classic type of FAP; fewer than 100 polyps typically develop, rather than hundreds or thousands. They may also be at increased risk for upper gastrointestinal polyps. MYH-associated polyposis is caused by mutations in the MYH gene. Last updated: 6/28/2011

MalaCards based summary : Mutyh-Associated Polyposis, also known as myh-associated polyposis, is related to familial adenomatous polyposis and polyposis syndrome, hereditary mixed, 1, and has symptoms including diarrhea and abdominal pain. An important gene associated with Mutyh-Associated Polyposis is MUTYH (MutY DNA Glycosylase), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include colon, testes and liver, and related phenotypes are Downregulation of NFkappaB pathway and Increased shRNA abundance

GeneReviews: NBK107219

Related Diseases for Mutyh-Associated Polyposis

Diseases related to Mutyh-Associated Polyposis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 30.8 APC KRAS MUTYH SMAD4 TP53
2 polyposis syndrome, hereditary mixed, 1 30.2 APC MUTYH
3 attenuated familial adenomatous polyposis 30.2 APC MUTYH
4 colorectal adenoma 30.0 KRAS MUTYH TP53
5 lynch syndrome 29.4 APC KRAS MUTYH TP53
6 adenocarcinoma 29.2 KRAS SMAD4 TP53
7 adenoma 28.8 APC KRAS MUTYH SMAD4 TP53
8 colorectal cancer 28.5 APC KRAS MUTYH SMAD4 TP53
9 familial adenomatous polyposis 2 11.6
10 pilomatrixoma 11.5
11 duodenum cancer 10.2 KRAS MUTYH
12 duodenitis 10.2
13 periampullary adenoma 10.2 APC KRAS
14 nasal cavity adenocarcinoma 10.2 KRAS TP53
15 mature teratoma 10.2 KRAS TP53
16 pulmonary blastoma 10.2 KRAS TP53
17 biliary papillomatosis 10.2 KRAS TP53
18 ovary adenocarcinoma 10.1 KRAS TP53
19 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.1 KRAS TP53
20 mixed cell type cancer 10.1 KRAS TP53
21 liver angiosarcoma 10.1 KRAS TP53
22 pseudomyxoma peritonei 10.1 KRAS TP53
23 anal squamous cell carcinoma 10.1 APC TP53
24 mucinous adenocarcinoma 10.1 KRAS TP53
25 barrett's adenocarcinoma 10.1 KRAS TP53
26 colon adenoma 10.1 APC KRAS
27 bile duct adenocarcinoma 10.1 KRAS TP53
28 ovarian clear cell carcinoma 10.1 KRAS TP53
29 malignant ovarian surface epithelial-stromal neoplasm 10.1 KRAS TP53
30 ovary epithelial cancer 10.1 KRAS TP53
31 lung benign neoplasm 10.1 KRAS TP53
32 ovarian serous carcinoma 10.0 KRAS TP53
33 adenosquamous carcinoma 10.0 KRAS TP53
34 endometrial adenocarcinoma 10.0 KRAS TP53
35 colorectal adenocarcinoma 10.0 KRAS TP53
36 ovarian cancer 1 10.0 KRAS TP53
37 muir-torre syndrome 9.9
38 langerhans cell histiocytosis 9.9
39 in situ pulmonary adenocarcinoma 9.9
40 thyroid cancer 9.9
41 histiocytosis 9.9
42 thyroiditis 9.9
43 autosomal genetic disease 9.9 MUTYH TP53
44 female reproductive organ cancer 9.9 KRAS TP53
45 colloid carcinoma of the pancreas 9.9 KRAS SMAD4
46 adenosquamous pancreas carcinoma 9.9 KRAS SMAD4
47 gastrointestinal system benign neoplasm 9.9 KRAS MUTYH TP53
48 cell type benign neoplasm 9.9 KRAS MUTYH TP53
49 colonic benign neoplasm 9.9 APC KRAS MUTYH
50 rectal neoplasm 9.9 KRAS MUTYH TP53

Graphical network of the top 20 diseases related to Mutyh-Associated Polyposis:



Diseases related to Mutyh-Associated Polyposis

Symptoms & Phenotypes for Mutyh-Associated Polyposis

UMLS symptoms related to Mutyh-Associated Polyposis:


diarrhea, abdominal pain

GenomeRNAi Phenotypes related to Mutyh-Associated Polyposis according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Downregulation of NFkappaB pathway GR00313-A 8.96 APC SMAD4
2 Increased shRNA abundance GR00327-A 8.8 APC MT-CO2 MUTYH

MGI Mouse Phenotypes related to Mutyh-Associated Polyposis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.71 APC KRAS SMAD4 TP53
2 digestive/alimentary MP:0005381 9.67 APC KRAS SMAD4 TP53
3 limbs/digits/tail MP:0005371 9.62 APC KRAS SMAD4 TP53
4 liver/biliary system MP:0005370 9.56 APC KRAS SMAD4 TP53
5 neoplasm MP:0002006 9.55 APC KRAS MUTYH SMAD4 TP53
6 pigmentation MP:0001186 9.13 KRAS TP53 APC
7 renal/urinary system MP:0005367 8.92 APC KRAS SMAD4 TP53

Drugs & Therapeutics for Mutyh-Associated Polyposis

Drugs for Mutyh-Associated Polyposis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins
2 Antibodies
3 Cola Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes Recruiting NCT02198092

Search NIH Clinical Center for Mutyh-Associated Polyposis

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Mutyh-Associated Polyposis

Genetic tests related to Mutyh-Associated Polyposis:

# Genetic test Affiliating Genes
1 Myh-Associated Polyposis 28 MUTYH

Anatomical Context for Mutyh-Associated Polyposis

MalaCards organs/tissues related to Mutyh-Associated Polyposis:

38
Colon, Testes, Liver, Thyroid

Publications for Mutyh-Associated Polyposis

Articles related to Mutyh-Associated Polyposis:

(show top 50) (show all 51)
# Title Authors Year
1
Hereditary Colorectal Tumors: A Literature Review on MUTYH-Associated Polyposis. ( 29147111 )
2017
2
Adrenal Lesions in Patients With (Attenuated) Familial Adenomatous Polyposis and MUTYH-Associated Polyposis. ( 28891849 )
2017
3
Burden and profile of somatic mutation in duodenal adenomas from patients with familial adenomatous- and MUTYH-associated polyposis. ( 28790112 )
2017
4
Cutaneous Sebaceous Lesions in a Patient With MUTYH-Associated Polyposis Mimicking Muir-Torre Syndrome. ( 27870730 )
2016
5
MUTYH-Associated Polyposis: The Irish Experience>. ( 28644590 )
2016
6
An Individual with Both MUTYH-Associated Polyposis and Lynch Syndrome Identified by Multi-Gene Hereditary Cancer Panel Testing: A Case Report. ( 27014339 )
2016
7
Frequency and Features of Duodenal Adenomas in Patients WithA MUTYH-Associated Polyposis. ( 26905905 )
2016
8
Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis. ( 26138249 )
2015
9
Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: somatic landscape and driver genes. ( 26414517 )
2015
10
Somatic c.34G>T KRAS mutation: a new prescreening test forA MUTYH-associated polyposis? ( 26056087 )
2015
11
Establishing a diagnostic road map for MUTYH-associated polyposis. ( 24486588 )
2014
12
Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. ( 24470512 )
2014
13
Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis. ( 24620956 )
2014
14
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
15
Identification of a patient with atypical MUTYH-associated polyposis through detection of the KRAS c.34G>T mutation in liver metastasis. ( 23341527 )
2013
16
MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis. ( 22865608 )
2013
17
Oxidative DNA damage drives carcinogenesis in MUTYH-associated-polyposis by specific mutations of mitochondrial and MAPK genes. ( 23599153 )
2013
18
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. ( 23361220 )
2013
19
Evidence for accelerated colorectal adenoma--carcinoma progression in MUTYH-associated polyposis? ( 21846783 )
2012
20
MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors. ( 22876359 )
2012
21
French experts report on MUTYH-associated polyposis (MAP). ( 22538434 )
2012
22
Role of the microenvironment in the tumourigenesis of microsatellite unstable and MUTYH-associated polyposis colorectal cancers. ( 22294774 )
2012
23
MUTYH associated polyposis coli: one common and one rare mutation. ( 22402879 )
2012
24
High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. ( 22744763 )
2012
25
Frequent mutation in North African patients with MUTYH-associated polyposis. ( 21443744 )
2011
26
MUTYH-associated polyposis (MAP). ( 20663686 )
2011
27
The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP). ( 22103048 )
2011
28
Bronchioloalveolar adenocarcinoma and pulmonary langerhans cell histiocytosis in a patient with MUTYH-associated polyposis. ( 21189386 )
2011
29
MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. ( 20618354 )
2010
30
Adenoma development in a patient with MUTYH-associated polyposis (MAP): new insights into the natural course of polyp development. ( 19672709 )
2010
31
Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. ( 21044966 )
2010
32
Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis. ( 20512164 )
2010
33
Colorectal cancer survival advantage in MUTYH-associated polyposis and Lynch syndrome families. ( 21044965 )
2010
34
Papillary thyroid cancer in a patient with MUTYH-associated polyposis (MAP). ( 20625837 )
2010
35
Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis. ( 21178863 )
2010
36
Idiopathic gastric acid hypersecretion in a patient with MUTYH-associated polyposis. ( 19806110 )
2009
37
Immunohistochemistry is not an accurate first step towards the molecular diagnosis of MUTYH-associated polyposis. ( 19031083 )
2009
38
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. ( 19732775 )
2009
39
Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. ( 19527492 )
2009
40
MUTYH-associated polyposis and colorectal cancer. ( 19793568 )
2009
41
MUTYH-associated polyposis carcinomas frequently lose HLA class I expression - a common event amongst DNA-repair-deficient colorectal cancers. ( 19462419 )
2009
42
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. ( 19032956 )
2009
43
MUTYH-associated polyposis. ( 19414147 )
2009
44
Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue. ( 18172263 )
2008
45
MUTYH Associated Polyposis (MAP). ( 19506731 )
2008
46
High frequency of copy-neutral LOH in MUTYH-associated polyposis carcinomas. ( 18506705 )
2008
47
MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing. ( 17161978 )
2007
48
Duodenal carcinoma in MUTYH-associated polyposis. ( 16943222 )
2006
49
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. ( 16557584 )
2006
50
[From gene to disease; MutYH-associated polyposis coli (MAP)]. ( 16425850 )
2005

Variations for Mutyh-Associated Polyposis

ClinVar genetic disease variations for Mutyh-Associated Polyposis:

6 (show top 50) (show all 57)
# Gene Variation Type Significance SNP ID Assembly Location
1 MUTYH NM_001128425.1(MUTYH): c.348+33_*210delinsTA indel Pathogenic GRCh38 Chromosome 1, 45329096: 45333380
2 MUTYH NM_001128425.1(MUTYH): c.1418C> A (p.Ala473Asp) single nucleotide variant Pathogenic rs200844166 GRCh37 Chromosome 1, 45796912: 45796912
3 MUTYH NM_001128425.1(MUTYH): c.733C> T (p.Arg245Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200495564 GRCh37 Chromosome 1, 45798118: 45798118
4 MUTYH NM_001128425.1(MUTYH): c.1227_1228dupGG (p.Glu410Glyfs) duplication Pathogenic rs587780078 GRCh37 Chromosome 1, 45797187: 45797188
5 MUTYH NM_001128425.1(MUTYH): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs587780082 GRCh37 Chromosome 1, 45797507: 45797507
6 MUTYH NM_001128425.1(MUTYH): c.1437_1439delGGA (p.Glu480del) deletion Pathogenic rs587778541 GRCh37 Chromosome 1, 45796891: 45796893
7 MUTYH NM_001128425.1(MUTYH): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs587780088 GRCh37 Chromosome 1, 45800165: 45800165
8 MUTYH NM_001128425.1(MUTYH): c.1147delC (p.Ala385Profs) deletion Pathogenic rs587778536 GRCh37 Chromosome 1, 45797372: 45797372
9 MUTYH NM_001128425.1(MUTYH): c.933+3A> C single nucleotide variant Pathogenic rs587780751 GRCh37 Chromosome 1, 45797835: 45797835
10 MUTYH NM_001128425.1(MUTYH): c.289C> T (p.Arg97Ter) single nucleotide variant Pathogenic rs138775799 GRCh38 Chromosome 1, 45333472: 45333472
11 MUTYH NM_001128425.1(MUTYH): c.1186+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587781337 GRCh38 Chromosome 1, 45331660: 45331660
12 MUTYH NM_001128425.1(MUTYH): c.940C> T (p.Gln314Ter) single nucleotide variant Pathogenic rs587781338 GRCh38 Chromosome 1, 45332080: 45332080
13 MUTYH NM_001128425.1(MUTYH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic/Likely pathogenic rs140342925 GRCh38 Chromosome 1, 45332445: 45332445
14 MUTYH NM_001128425.1(MUTYH): c.1187-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587781628 GRCh37 Chromosome 1, 45797230: 45797230
15 MUTYH NM_001128425.1(MUTYH): c.1214C> T (p.Pro405Leu) single nucleotide variant Pathogenic rs529008617 GRCh37 Chromosome 1, 45797201: 45797201
16 MUTYH NM_001128425.1(MUTYH): c.739C> T (p.Arg247Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587782885 GRCh37 Chromosome 1, 45798112: 45798112
17 MUTYH NM_001128425.1(MUTYH): c.1171C> T (p.Gln391Ter) single nucleotide variant Pathogenic rs587783057 GRCh38 Chromosome 1, 45331676: 45331676
18 MUTYH NM_001128425.1(MUTYH): c.545G> A (p.Arg182His) single nucleotide variant Pathogenic rs143353451 GRCh38 Chromosome 1, 45332794: 45332794
19 MUTYH NM_001128425.1(MUTYH): c.884C> T (p.Pro295Leu) single nucleotide variant Pathogenic/Likely pathogenic rs374950566 GRCh37 Chromosome 1, 45797887: 45797887
20 MUTYH NM_001128425.1(MUTYH): c.799C> T (p.Gln267Ter) single nucleotide variant Pathogenic rs786203115 GRCh37 Chromosome 1, 45797972: 45797972
21 MUTYH NM_001128425.1(MUTYH): c.721C> T (p.Arg241Trp) single nucleotide variant Pathogenic/Likely pathogenic rs34126013 GRCh37 Chromosome 1, 45798130: 45798130
22 MUTYH NM_001128425.1(MUTYH): c.544C> T (p.Arg182Cys) single nucleotide variant Pathogenic/Likely pathogenic rs747993448 GRCh38 Chromosome 1, 45332795: 45332795
23 MUTYH NM_001128425.1(MUTYH): c.389-1G> A single nucleotide variant Pathogenic rs372267274 GRCh37 Chromosome 1, 45798843: 45798843
24 MUTYH NM_001128425.1(MUTYH): c.325C> T (p.Arg109Trp) single nucleotide variant Pathogenic/Likely pathogenic rs765123255 GRCh37 Chromosome 1, 45799108: 45799108
25 MUTYH NM_001128425.1(MUTYH): c.309G> A (p.Trp103Ter) single nucleotide variant Pathogenic/Likely pathogenic rs748170941 GRCh37 Chromosome 1, 45799124: 45799124
26 MUTYH NM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys) single nucleotide variant Pathogenic rs34612342 GRCh37 Chromosome 1, 45798475: 45798475
27 MUTYH NM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp) single nucleotide variant Pathogenic/Likely pathogenic rs36053993 GRCh37 Chromosome 1, 45797228: 45797228
28 MUTYH NM_001128425.1(MUTYH): c.1461delC (p.Thr488Profs) deletion Pathogenic rs587776618 GRCh37 Chromosome 1, 45796869: 45796869
29 MUTYH NM_001128425.1(MUTYH): c.312C> A (p.Tyr104Ter) single nucleotide variant Pathogenic rs121908380 GRCh37 Chromosome 1, 45799121: 45799121
30 MUTYH NM_001128425.1(MUTYH): c.1438G> T (p.Glu480Ter) single nucleotide variant Pathogenic rs121908381 GRCh37 Chromosome 1, 45796892: 45796892
31 MUTYH NM_001128425.1(MUTYH): c.1474A> T (p.Lys492Ter) single nucleotide variant Pathogenic rs863224502 GRCh37 Chromosome 1, 45796856: 45796856
32 MUTYH NM_001128425.1(MUTYH): c.1214_1224delCGTCCGTGACC (p.Pro405Leufs) deletion Pathogenic/Likely pathogenic rs863224501 GRCh37 Chromosome 1, 45797191: 45797201
33 MUTYH NM_001128425.1(MUTYH): c.1477G> T (p.Val493Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587782228 GRCh38 Chromosome 1, 45330557: 45330557
34 MUTYH NM_001128425.1(MUTYH): c.847A> G (p.Met283Val) single nucleotide variant Pathogenic/Likely pathogenic rs876659676 GRCh37 Chromosome 1, 45797924: 45797924
35 MUTYH NM_001128425.1(MUTYH): c.628C> T (p.Gln210Ter) single nucleotide variant Pathogenic rs376561094 GRCh38 Chromosome 1, 45332636: 45332636
36 MUTYH NM_001128425.1(MUTYH): c.467G> A (p.Trp156Ter) single nucleotide variant Pathogenic/Likely pathogenic rs762307622 GRCh37 Chromosome 1, 45798627: 45798627
37 MUTYH NM_001128425.1(MUTYH): c.453_458dupATGGAT (p.Trp152_Met153insIleTrp) duplication Pathogenic/Likely pathogenic rs876660190 GRCh37 Chromosome 1, 45798773: 45798778
38 MUTYH NM_001128425.1(MUTYH): c.389-1G> C single nucleotide variant Pathogenic rs372267274 GRCh37 Chromosome 1, 45798843: 45798843
39 MUTYH NM_001128425.1(MUTYH): c.1435G> T (p.Glu479Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376790729 GRCh37 Chromosome 1, 45796895: 45796895
40 MUTYH NM_001128425.1(MUTYH): c.333dupA (p.Pro112Thrfs) duplication Pathogenic rs878854189 GRCh37 Chromosome 1, 45799100: 45799100
41 MUTYH NM_001128425.1(MUTYH): c.526_535delGGCCTGGGCT (p.Gly176Thrfs) deletion Pathogenic/Likely pathogenic rs1057517457 GRCh38 Chromosome 1, 45332804: 45332813
42 MUTYH NM_001128425.1(MUTYH): c.713A> G (p.Asn238Ser) single nucleotide variant Pathogenic/Likely pathogenic rs1057517765 GRCh37 Chromosome 1, 45798138: 45798138
43 MUTYH NM_001128425.1(MUTYH): c.463-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs1057520660 GRCh37 Chromosome 1, 45798632: 45798632
44 MUTYH NM_001128425.1(MUTYH): c.1047G> A (p.Trp349Ter) single nucleotide variant Pathogenic rs1060501324 GRCh38 Chromosome 1, 45331800: 45331800
45 MUTYH NM_001128425.1(MUTYH): c.393_406dupGGTCTCAGAGGTCA (p.Met136Argfs) duplication Pathogenic GRCh38 Chromosome 1, 45333153: 45333166
46 MUTYH NM_001128425.1(MUTYH): c.586G> T (p.Glu196Ter) single nucleotide variant Pathogenic rs745921592 GRCh38 Chromosome 1, 45332678: 45332678
47 MUTYH NM_001128425.1(MUTYH): c.1267G> T (p.Glu423Ter) single nucleotide variant Pathogenic rs1060501321 GRCh38 Chromosome 1, 45331476: 45331476
48 MUTYH NM_001128425.1(MUTYH): c.1240C> T (p.Gln414Ter) single nucleotide variant Pathogenic rs766420907 GRCh38 Chromosome 1, 45331503: 45331503
49 MUTYH NM_001128425.1(MUTYH): c.504+19_504+31delTAGGGGAAATAGG deletion Pathogenic rs781222233 GRCh38 Chromosome 1, 45332887: 45332899
50 MUTYH NM_001128425.1(MUTYH): c.1281G> A (p.Trp427Ter) single nucleotide variant Pathogenic rs1060501325 GRCh38 Chromosome 1, 45331462: 45331462

Expression for Mutyh-Associated Polyposis

Search GEO for disease gene expression data for Mutyh-Associated Polyposis.

Pathways for Mutyh-Associated Polyposis

Pathways related to Mutyh-Associated Polyposis according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 APC KRAS SMAD4 TP53
2 12.43 APC KRAS SMAD4 TP53
3
Show member pathways
12.42 APC KRAS TP53
4
Show member pathways
12.34 APC KRAS SMAD4 TP53
5
Show member pathways
12.28 KRAS SMAD4 TP53
6
Show member pathways
12.26 APC SMAD4 TP53
7 12.21 APC KRAS TP53
8
Show member pathways
12.17 APC KRAS TP53
9
Show member pathways
12.06 APC KRAS TP53
10 12.05 APC SMAD4 TP53
11 11.96 APC KRAS SMAD4 TP53
12 11.84 KRAS SMAD4 TP53
13
Show member pathways
11.82 KRAS SMAD4 TP53
14 11.75 APC KRAS SMAD4
15 11.55 SMAD4 TP53
16 11.54 APC KRAS TP53
17 11.53 KRAS TP53
18 11.53 APC MT-CO2
19 11.49 KRAS TP53
20 11.47 APC KRAS SMAD4 TP53
21 11.42 KRAS TP53
22 11.42 KRAS TP53
23 11.33 APC TP53
24 11.3 SMAD4 TP53
25 11.19 SMAD4 TP53
26 11.12 APC TP53
27 10.98 APC KRAS SMAD4 TP53
28 10.81 APC KRAS SMAD4

GO Terms for Mutyh-Associated Polyposis

Biological processes related to Mutyh-Associated Polyposis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.5 APC MUTYH TP53
2 negative regulation of cell proliferation GO:0008285 9.33 APC SMAD4 TP53
3 Ras protein signal transduction GO:0007265 9.26 KRAS TP53
4 base-excision repair GO:0006284 8.96 MUTYH TP53
5 protein deubiquitination GO:0016579 8.8 APC SMAD4 TP53

Molecular functions related to Mutyh-Associated Polyposis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.96 MT-CO2 TP53
2 RNA polymerase II transcription factor binding GO:0001085 8.62 SMAD4 TP53

Sources for Mutyh-Associated Polyposis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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