MCID: MTY001
MIFTS: 44

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 24
Myh-Associated Polyposis 23 50 24 29
Colorectal Adenomatous Polyposis, Autosomal Recessive 23 24
Multiple Colorectal Adenomas, Autosomal Recessive 23 24
Autosomal Recessive Familial Adenomatous Polyposis 50
Autosomal Recessive Multiple Colorectal Adenomas 50
Adenomatous Polyposis Coli 69
Mutyh-Associate Polyposis 69
Map Syndrome 50

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:



Summaries for Mutyh-Associated Polyposis

NIH Rare Diseases : 50 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 colorectal cancer and colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, and has symptoms including abdominal pain and diarrhea. An important gene associated with Mutyh-Associated Polyposis is MUTYH (MutY DNA Glycosylase), and among its related pathways/superpathways are Development HGF signaling pathway and Wnt Signaling Pathway and Pluripotency. The drugs Antibodies and Immunoglobulins 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 76)
id Related Disease Score Top Affiliating Genes
1 colorectal cancer 27.8 APC KRAS MUTYH SMAD4 TP53
2 colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 12.3
3 adenomas, multiple colorectal 11.2
4 hereditary persistence of fetal hemoglobin, klf1-related 10.4 APC MUTYH
5 auditory neuropathy 10.3 APC MUTYH
6 limb ischemia 10.3 APC KRAS
7 breast myoepithelial neoplasm 10.3 KRAS TP53
8 adenocarcinoma in situ 10.3 KRAS TP53
9 malignant syringoma 10.3 KRAS TP53
10 congenital mesoblastic nephroma 10.3 KRAS TP53
11 uterine corpus adenofibroma 10.3 KRAS TP53
12 extramedullary plasmacytoma 10.3 KRAS TP53
13 adenoma 10.3
14 split-hand/foot malformation 4 10.2 KRAS TP53
15 migraine with aura 10.2 KRAS TP53
16 hypersensitivity reaction type iii disease 10.2 KRAS TP53
17 cavernous sinus thrombosis 10.2 KRAS TP53
18 rectum squamous cell carcinoma 10.2 APC TP53
19 ossifying fibromyxoid tumor 10.2 KRAS TP53
20 brenner tumor of the vagina 10.2 APC TP53
21 peritoneal serous adenocarcinoma 10.2 KRAS TP53
22 brenner tumor of ovary 10.2 APC TP53
23 schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma 10.2 KRAS TP53
24 large intestine adenoma 10.2 APC KRAS
25 cecum adenocarcinoma 10.2 KRAS TP53
26 dental caries 10.2 KRAS TP53
27 nasal cavity disease 10.1 KRAS TP53
28 olfactory neuroblastoma 10.1 KRAS TP53
29 cervical neuroblastoma 10.1 KRAS TP53
30 familial adenomatous polyposis 10.1
31 duodenitis 10.1
32 sebaceous adenocarcinoma 10.1 KRAS TP53
33 endometriosis of uterus 10.1 KRAS TP53
34 arteritic anterior ischemic optic neuropathy 10.0 KRAS TP53
35 colorectal adenoma 10.0
36 lynch syndrome 10.0
37 trachea squamous cell carcinoma 10.0 KRAS TP53
38 diffuse pulmonary fibrosis 10.0 KRAS SMAD4
39 acinar cell cystadenocarcinoma 10.0 KRAS SMAD4
40 pancreatic serous cystic neoplasm 9.9 KRAS TP53
41 lymphoplasmacytic lymphoma 9.9 MUTYH TP53
42 hereditary nephrotic syndromes, autosomal dominant 9.9 APC KRAS MUTYH
43 gastrointestinal neuroendocrine tumor 9.9 KRAS MUTYH TP53
44 male reproductive organ benign neoplasm 9.9 KRAS MUTYH TP53
45 congenital hypomyelination neuropathy 9.9 KRAS MUTYH TP53
46 rectum sarcoma 9.9 KRAS MUTYH TP53
47 macrocytic anemia 9.9 APC KRAS MUTYH
48 brown-vialetto-van laere syndrome 9.9 KRAS TP53
49 muir-torre syndrome 9.9
50 thyroid cancer 9.9

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:


abdominal pain, diarrhea

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

26
id 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:

44
id 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 APC KRAS TP53
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):


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

Interventional clinical trials:


id 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 48 :


Genetic Tests for Mutyh-Associated Polyposis

Genetic tests related to Mutyh-Associated Polyposis:

id Genetic test Affiliating Genes
1 Myh-Associated Polyposis 29
2 Mutyh-Associated Polyposis 24 MUTYH

Anatomical Context for Mutyh-Associated Polyposis

MalaCards organs/tissues related to Mutyh-Associated Polyposis:

39
Colon, Testes, Liver, Thyroid

Publications for Mutyh-Associated Polyposis

Articles related to Mutyh-Associated Polyposis:

(show all 50)
id Title Authors Year
1
Burden and profile of somatic mutation in duodenal adenomas from patients with familial adenomatous- and MUTYH-associated polyposis. ( 28790112 )
2017
2
Adrenal Lesions in Patients With (Attenuated) Familial Adenomatous Polyposis and MUTYH-Associated Polyposis. ( 28891849 )
2017
3
MUTYH-Associated Polyposis: The Irish Experience>. ( 28644590 )
2016
4
An Individual with Both MUTYH-Associated Polyposis and Lynch Syndrome Identified by Multi-Gene Hereditary Cancer Panel Testing: A Case Report. ( 27014339 )
2016
5
Cutaneous Sebaceous Lesions in a Patient With MUTYH-Associated Polyposis Mimicking Muir-Torre Syndrome. ( 27870730 )
2016
6
Frequency and Features of Duodenal Adenomas in Patients WithA MUTYH-Associated Polyposis. ( 26905905 )
2016
7
Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis. ( 26138249 )
2015
8
Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: somatic landscape and driver genes. ( 26414517 )
2015
9
Somatic c.34G>T KRAS mutation: a new prescreening test forA MUTYH-associated polyposis? ( 26056087 )
2015
10
Establishing a diagnostic road map for MUTYH-associated polyposis. ( 24486588 )
2014
11
Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. ( 24470512 )
2014
12
Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis. ( 24620956 )
2014
13
Oxidative DNA damage drives carcinogenesis in MUTYH-associated-polyposis by specific mutations of mitochondrial and MAPK genes. ( 23599153 )
2013
14
Identification of a patient with atypical MUTYH-associated polyposis through detection of the KRAS c.34G>T mutation in liver metastasis. ( 23341527 )
2013
15
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
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
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. ( 23361220 )
2013
18
High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. ( 22744763 )
2012
19
French experts report on MUTYH-associated polyposis (MAP). ( 22538434 )
2012
20
Role of the microenvironment in the tumourigenesis of microsatellite unstable and MUTYH-associated polyposis colorectal cancers. ( 22294774 )
2012
21
MUTYH associated polyposis coli: one common and one rare mutation. ( 22402879 )
2012
22
MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors. ( 22876359 )
2012
23
Evidence for accelerated colorectal adenoma--carcinoma progression in MUTYH-associated polyposis? ( 21846783 )
2012
24
MUTYH-associated polyposis (MAP). ( 20663686 )
2011
25
Bronchioloalveolar adenocarcinoma and pulmonary langerhans cell histiocytosis in a patient with MUTYH-associated polyposis. ( 21189386 )
2011
26
Frequent mutation in North African patients with MUTYH-associated polyposis. ( 21443744 )
2011
27
The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP). ( 22103048 )
2011
28
Adenoma development in a patient with MUTYH-associated polyposis (MAP): new insights into the natural course of polyp development. ( 19672709 )
2010
29
Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis. ( 21178863 )
2010
30
MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. ( 20618354 )
2010
31
Papillary thyroid cancer in a patient with MUTYH-associated polyposis (MAP). ( 20625837 )
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
Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. ( 21044966 )
2010
35
MUTYH-associated polyposis and colorectal cancer. ( 19793568 )
2009
36
Immunohistochemistry is not an accurate first step towards the molecular diagnosis of MUTYH-associated polyposis. ( 19031083 )
2009
37
Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. ( 19527492 )
2009
38
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. ( 19732775 )
2009
39
MUTYH-associated polyposis. ( 19414147 )
2009
40
Idiopathic gastric acid hypersecretion in a patient with MUTYH-associated polyposis. ( 19806110 )
2009
41
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. ( 19032956 )
2009
42
MUTYH-associated polyposis carcinomas frequently lose HLA class I expression - a common event amongst DNA-repair-deficient colorectal cancers. ( 19462419 )
2009
43
MUTYH Associated Polyposis (MAP). ( 19506731 )
2008
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
High frequency of copy-neutral LOH in MUTYH-associated polyposis carcinomas. ( 18506705 )
2008
46
MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing. ( 17161978 )
2007
47
Duodenal carcinoma in MUTYH-associated polyposis. ( 16943222 )
2006
48
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. ( 16557584 )
2006
49
[From gene to disease; MutYH-associated polyposis coli (MAP)]. ( 16425850 )
2005
50
MUTYH-Associated Polyposis ( 23035301 )
1993

Variations for Mutyh-Associated Polyposis

ClinVar genetic disease variations for Mutyh-Associated Polyposis:

6 (show all 49)
id Gene Variation Type Significance SNP ID Assembly Location
1 MUTYH NM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys) single nucleotide variant Pathogenic rs34612342 GRCh37 Chromosome 1, 45798475: 45798475
2 MUTYH NM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp) single nucleotide variant Pathogenic/Likely pathogenic rs36053993 GRCh37 Chromosome 1, 45797228: 45797228
3 MUTYH NM_001128425.1(MUTYH): c.1461delC (p.Thr488Profs) deletion Pathogenic rs587776618 GRCh37 Chromosome 1, 45796869: 45796869
4 MUTYH NM_001128425.1(MUTYH): c.312C> A (p.Tyr104Ter) single nucleotide variant Pathogenic rs121908380 GRCh37 Chromosome 1, 45799121: 45799121
5 MUTYH NM_001128425.1(MUTYH): c.1438G> T (p.Glu480Ter) single nucleotide variant Pathogenic rs121908381 GRCh37 Chromosome 1, 45796892: 45796892
6 MUTYH NM_001128425.1(MUTYH): c.348+33_*210delinsTA indel Pathogenic GRCh38 Chromosome 1, 45329096: 45333380
7 MUTYH NM_001128425.1(MUTYH): c.1418C> A (p.Ala473Asp) single nucleotide variant Pathogenic rs200844166 GRCh37 Chromosome 1, 45796912: 45796912
8 MUTYH NM_001128425.1(MUTYH): c.733C> T (p.Arg245Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200495564 GRCh37 Chromosome 1, 45798118: 45798118
9 MUTYH NM_001128425.1(MUTYH): c.1227_1228dupGG (p.Glu410Glyfs) duplication Pathogenic rs587780078 GRCh37 Chromosome 1, 45797187: 45797188
10 MUTYH NM_001128425.1(MUTYH): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs587780082 GRCh37 Chromosome 1, 45797507: 45797507
11 MUTYH NM_001128425.1(MUTYH): c.1437_1439delGGA (p.Glu480del) deletion Pathogenic rs587778541 GRCh37 Chromosome 1, 45796891: 45796893
12 MUTYH NM_001128425.1(MUTYH): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs587780088 GRCh37 Chromosome 1, 45800165: 45800165
13 MUTYH NM_001128425.1(MUTYH): c.1147delC (p.Ala385Profs) deletion Pathogenic rs587778536 GRCh37 Chromosome 1, 45797372: 45797372
14 MUTYH NM_001128425.1(MUTYH): c.933+3A> C single nucleotide variant Pathogenic rs587780751 GRCh37 Chromosome 1, 45797835: 45797835
15 MUTYH NM_001128425.1(MUTYH): c.289C> T (p.Arg97Ter) single nucleotide variant Pathogenic rs138775799 GRCh38 Chromosome 1, 45333472: 45333472
16 MUTYH NM_001128425.1(MUTYH): c.1186+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587781337 GRCh38 Chromosome 1, 45331660: 45331660
17 MUTYH NM_001128425.1(MUTYH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic/Likely pathogenic rs140342925 GRCh38 Chromosome 1, 45332445: 45332445
18 MUTYH NM_001128425.1(MUTYH): c.1187-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587781628 GRCh37 Chromosome 1, 45797230: 45797230
19 MUTYH NM_001128425.1(MUTYH): c.1214C> T (p.Pro405Leu) single nucleotide variant Pathogenic rs529008617 GRCh38 Chromosome 1, 45331529: 45331529
20 MUTYH NM_001128425.1(MUTYH): c.739C> T (p.Arg247Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587782885 GRCh37 Chromosome 1, 45798112: 45798112
21 MUTYH NM_001128425.1(MUTYH): c.1171C> T (p.Gln391Ter) single nucleotide variant Pathogenic rs587783057 GRCh38 Chromosome 1, 45331676: 45331676
22 MUTYH NM_001128425.1(MUTYH): c.857G> A (p.Gly286Glu) single nucleotide variant Pathogenic/Likely pathogenic rs730881833 GRCh38 Chromosome 1, 45332242: 45332242
23 MUTYH NM_001128425.1(MUTYH): c.545G> A (p.Arg182His) single nucleotide variant Pathogenic rs143353451 GRCh38 Chromosome 1, 45332794: 45332794
24 MUTYH NM_001128425.1(MUTYH): c.884C> T (p.Pro295Leu) single nucleotide variant Pathogenic/Likely pathogenic rs374950566 GRCh37 Chromosome 1, 45797887: 45797887
25 MUTYH NM_001128425.1(MUTYH): c.799C> T (p.Gln267Ter) single nucleotide variant Pathogenic rs786203115 GRCh37 Chromosome 1, 45797972: 45797972
26 MUTYH NM_001128425.1(MUTYH): c.721C> T (p.Arg241Trp) single nucleotide variant Pathogenic/Likely pathogenic rs34126013 GRCh37 Chromosome 1, 45798130: 45798130
27 MUTYH NM_001128425.1(MUTYH): c.544C> T (p.Arg182Cys) single nucleotide variant Pathogenic rs747993448 GRCh38 Chromosome 1, 45332795: 45332795
28 MUTYH NM_001128425.1(MUTYH): c.389-1G> A single nucleotide variant Pathogenic rs372267274 GRCh37 Chromosome 1, 45798843: 45798843
29 MUTYH NM_001128425.1(MUTYH): c.325C> T (p.Arg109Trp) single nucleotide variant Pathogenic/Likely pathogenic rs765123255 GRCh37 Chromosome 1, 45799108: 45799108
30 MUTYH NM_001128425.1(MUTYH): c.309G> A (p.Trp103Ter) single nucleotide variant Pathogenic rs748170941 GRCh37 Chromosome 1, 45799124: 45799124
31 MUTYH NM_001128425.1(MUTYH): c.1474A> T (p.Lys492Ter) single nucleotide variant Pathogenic rs863224502 GRCh38 Chromosome 1, 45331184: 45331184
32 MUTYH NM_001128425.1(MUTYH): c.1214_1224delCGTCCGTGACC (p.Pro405Leufs) deletion Pathogenic/Likely pathogenic rs863224501 GRCh38 Chromosome 1, 45331519: 45331529
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.467G> A (p.Trp156Ter) single nucleotide variant Pathogenic/Likely pathogenic rs762307622 GRCh37 Chromosome 1, 45798627: 45798627
35 MUTYH NM_001128425.1(MUTYH): c.453_458dupATGGAT (p.Trp152_Met153insIleTrp) duplication Pathogenic/Likely pathogenic rs876660190 GRCh37 Chromosome 1, 45798773: 45798778
36 MUTYH NM_001128425.1(MUTYH): c.389-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs372267274 GRCh37 Chromosome 1, 45798843: 45798843
37 MUTYH NM_001128425.1(MUTYH): c.1435G> T (p.Glu479Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376790729 GRCh37 Chromosome 1, 45796895: 45796895
38 MUTYH NM_001128425.1(MUTYH): c.333dupA (p.Pro112Thrfs) duplication Pathogenic rs878854189 GRCh37 Chromosome 1, 45799100: 45799100
39 MUTYH NM_001128425.1(MUTYH): c.713A> G (p.Asn238Ser) single nucleotide variant Pathogenic/Likely pathogenic rs1057517765 GRCh37 Chromosome 1, 45798138: 45798138
40 MUTYH NM_001128425.1(MUTYH): c.1047G> A (p.Trp349Ter) single nucleotide variant Pathogenic rs1060501324 GRCh38 Chromosome 1, 45331800: 45331800
41 MUTYH NM_001128425.1(MUTYH): c.393_406dupGGTCTCAGAGGTCA (p.Met136Argfs) duplication Pathogenic GRCh38 Chromosome 1, 45333153: 45333166
42 MUTYH NM_001128425.1(MUTYH): c.586G> T (p.Glu196Ter) single nucleotide variant Pathogenic rs745921592 GRCh38 Chromosome 1, 45332678: 45332678
43 MUTYH NM_001128425.1(MUTYH): c.1267G> T (p.Glu423Ter) single nucleotide variant Pathogenic rs1060501321 GRCh38 Chromosome 1, 45331476: 45331476
44 MUTYH NM_001128425.1(MUTYH): c.1240C> T (p.Gln414Ter) single nucleotide variant Pathogenic rs766420907 GRCh38 Chromosome 1, 45331503: 45331503
45 MUTYH NM_001128425.1(MUTYH): c.504+19_504+31delTAGGGGAAATAGG deletion Pathogenic rs781222233 GRCh38 Chromosome 1, 45332887: 45332899
46 MUTYH NM_001128425.1(MUTYH): c.1281G> A (p.Trp427Ter) single nucleotide variant Pathogenic rs1060501325 GRCh38 Chromosome 1, 45331462: 45331462
47 MUTYH NM_001128425.1(MUTYH): c.102delA (p.Arg36Glyfs) deletion Pathogenic rs1060501336 GRCh38 Chromosome 1, 45334446: 45334446
48 MUTYH NC_000001.11: g.(?_45329306)_(45333324_?)del deletion Pathogenic GRCh38 Chromosome 1, 45329306: 45333324
49 MUTYH NM_001128425.1(MUTYH): c.859delG (p.Ala287Profs) deletion Pathogenic rs761468459 GRCh38 Chromosome 1, 45332240: 45332240

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 25)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 APC KRAS TP53
2
Show member pathways
12.24 APC SMAD4 TP53
3 12.22 APC KRAS SMAD4 TP53
4 12.19 APC KRAS TP53
5
Show member pathways
12.15 APC KRAS TP53
6
Show member pathways
12.15 APC KRAS SMAD4 TP53
7
Show member pathways
12.01 APC KRAS TP53
8 11.99 APC SMAD4 TP53
9 11.97 APC KRAS SMAD4 TP53
10 11.8 KRAS SMAD4 TP53
11 11.72 APC KRAS SMAD4
12 11.59 APC KRAS TP53
13 11.54 KRAS TP53
14 11.53 SMAD4 TP53
15 11.5 APC MT-CO2
16 11.47 APC KRAS SMAD4 TP53
17 11.46 KRAS TP53
18 11.4 KRAS TP53
19 11.4 KRAS TP53
20 11.31 APC TP53
21 11.27 SMAD4 TP53
22 11.17 SMAD4 TP53
23 11.09 APC TP53
24 10.98 APC KRAS SMAD4 TP53
25 10.81 APC KRAS SMAD4

GO Terms for Mutyh-Associated Polyposis

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

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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