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FAP2
MCID: FML347
MIFTS: 49

Familial Adenomatous Polyposis 2 (FAP2)

Categories: Bone diseases, Cancer diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Familial Adenomatous Polyposis 2

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MalaCards integrated aliases for Familial Adenomatous Polyposis 2:

Name: Familial Adenomatous Polyposis 2 56 12 73 15
Adenomas, Multiple Colorectal 56 29 13
Mutyh-Related Attenuated Familial Adenomatous Polyposis 12 58
Colorectal Adenomatous Polyposis, Autosomal Recessive 56 71
Mutyh-Related Attenuated Familial Polyposis Coli 12 58
Mutyh-Related Attenuated Fap 12 58
Fap2 56 73
Colorectal Adenomatous Polyposis Autosomal Recessive 73
Adenomas, Multiple Colorectal, Autosomal Recessive 56
Adenomas Multiple Colorectal Autosomal Recessive 73
Adenomatous Polyposis, Familial, Type 2 39
Mutyh-Related Afap 58

Characteristics:

Orphanet epidemiological data:

58
mutyh-related attenuated familial adenomatous polyposis
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
age at diagnosis ranges from the teens to the 60s


HPO:

31
familial adenomatous polyposis 2:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Fetal diseases
Anatomical: Gastrointestinal diseases Neuronal diseases Eye diseases Skin diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 12 DOID:0080410
OMIM 56 608456
OMIM Phenotypic Series 56 PS175100
MeSH 43 D011125
ICD10 32 D12.6
ICD10 via Orphanet 33 D12.6
Orphanet 58 ORPHA247798
MedGen 41 C1837991
UMLS 71 C1837991
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Summaries for Familial Adenomatous Polyposis 2

About this section
OMIM : 56 Autosomal recessive colorectal adenomatous polyposis is a disorder characterized by adult-onset of multiple colorectal adenomas and adenomatous polyposis. Affected individuals have a significantly increased risk of colorectal cancer (summary by Sieber et al., 2003). Cheadle and Sampson (2003) reviewed the molecular pathology and biochemistry of MYH colonic polyposis. For a discussion of genetic heterogeneity of FAP, see 175100. (608456)

MalaCards based summary : Familial Adenomatous Polyposis 2, also known as adenomas, multiple colorectal, is related to attenuated familial adenomatous polyposis and colorectal cancer. An important gene associated with Familial Adenomatous Polyposis 2 is MUTYH (MutY DNA Glycosylase), and among its related pathways/superpathways are Telomere C-strand (Lagging Strand) Synthesis and Chks in Checkpoint Regulation. Affiliated tissues include colon and testes, and related phenotypes are colorectal polyposis and adenomatous colonic polyposis

Disease Ontology : 12 A familial adenomatous polyposis that has material basis in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34.

UniProtKB/Swiss-Prot : 73 Familial adenomatous polyposis 2: A condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma.

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Related Diseases for Familial Adenomatous Polyposis 2

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Diseases in the Familial Adenomatous Polyposis family:

Familial Adenomatous Polyposis 1 Familial Adenomatous Polyposis 2
Familial Adenomatous Polyposis 3 Familial Adenomatous Polyposis 4

Diseases related to Familial Adenomatous Polyposis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 attenuated familial adenomatous polyposis 10.3 OGG1 MUTYH APEX1
2 colorectal cancer 10.2
3 colorectal adenoma 10.2
4 colorectal adenocarcinoma 10.2
5 adenocarcinoma 10.2
6 adenoma 10.2
7 periodontitis 10.2
8 myh-associated polyposis 10.0 MUTYH GGT1
9 spinocerebellar ataxia type 1 with axonal neuropathy 9.9 TOP1 LIG4 APEX1
10 xeroderma pigmentosum, variant type 9.5 TOP1 OGG1 MUTYH LIG4 APEX1
11 bile duct rhabdomyosarcoma 9.3 GGTLC3 GGT2 GGT1
12 splenic tuberculosis 9.3 GGTLC3 GGT2 GGT1
13 perforation of bile duct 9.3 GGTLC3 GGT2 GGT1
14 gallbladder papillary carcinoma 9.3 GGTLC3 GGT2 GGT1
15 immature teratoma of ovary 9.3 GGTLC3 GGT2 GGT1
16 optic nerve astrocytoma 9.3 GGTLC3 GGT2 GGT1
17 myasthenic syndrome, congenital, 3b, fast-channel 9.3 GGTLC3 GGT2 GGT1
18 suppurative cholangitis 9.3 GGTLC3 GGT2 GGT1
19 dientamoebiasis 9.3 GGTLC3 GGT2 GGT1
20 viral laryngitis 9.3 GGTLC3 GGT2 GGT1
21 acute cholangitis 9.3 GGTLC3 GGT2 GGT1
22 algoneurodystrophy 9.3 GGTLC3 GGT2 GGT1
23 bile duct cysts 9.3 GGTLC3 GGT2 GGT1
24 glutathionuria 9.3 GGTLC3 GGT2 GGT1
25 bile acid synthesis defect, congenital, 1 9.3 GGTLC3 GGT2 GGT1
26 common bile duct disease 9.3 GGTLC3 GGT2 GGT1
27 bile duct disease 9.3 GGTLC3 GGT2 GGT1
28 noonan syndrome 8 9.3 GGTLC3 GGT2 GGT1
29 amelogenesis imperfecta, type if 9.3 GGTLC3 GGT2 GGT1
30 giant axonal neuropathy 1, autosomal recessive 9.3 GGTLC3 GGT2 GGT1
31 esophageal varix 9.2 GGTLC3 GGT2 GGT1
32 cataract 34, multiple types 9.2 GGTLC3 GGT2 GGT1
33 choledocholithiasis 9.2 GGTLC3 GGT2 GGT1
34 loeys-dietz syndrome 2 9.2 GGTLC3 GGT2 GGT1
35 loeys-dietz syndrome 9.2 GGTLC3 GGT2 GGT1
36 cataract 4, multiple types 9.2 GGTLC3 GGT2 GGT1
37 hepatic vascular disease 9.2 GGTLC3 GGT2 GGT1
38 cholestasis, progressive familial intrahepatic, 1 9.2 GGTLC3 GGT2 GGT1
39 vein disease 9.2 GGTLC3 GGT2 GGT1
40 contractural arachnodactyly, congenital 9.2 MPG GGTLC3 GGT2 GGT1
41 bilirubin metabolic disorder 9.1 GGTLC3 GGT2 GGT1
42 lens disease 9.1 GGTLC3 GGT2 GGT1
43 cholangitis, primary sclerosing 9.1 GGTLC3 GGT2 GGT1
44 lipid storage disease 9.0 GGTLC3 GGT2 GGT1
45 distal arthrogryposis 9.0 MPG GGTLC3 GGT2 GGT1
46 gallbladder disease 9.0 GGTLC3 GGT2 GGT1
47 biliary tract disease 8.9 GGTLC3 GGT2 GGT1
48 alcohol use disorder 8.8 GGTLC3 GGT2 GGT1

Graphical network of the top 20 diseases related to Familial Adenomatous Polyposis 2:



Diseases related to Familial Adenomatous Polyposis 2
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Symptoms & Phenotypes for Familial Adenomatous Polyposis 2

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Human phenotypes related to Familial Adenomatous Polyposis 2:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 colorectal polyposis 58 31 hallmark (90%) Very frequent (99-80%) HP:0200063
2 adenomatous colonic polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0005227
3 adenocarcinoma of the colon 58 31 frequent (33%) Frequent (79-30%) HP:0040276
4 rectal polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0100896
5 congenital hypertrophy of retinal pigment epithelium 58 31 very rare (1%) Very rare (<4-1%) HP:0007649
6 colon cancer 31 very rare (1%) HP:0003003
7 large intestinal polyposis 58 Frequent (79-30%)
8 desmoid tumors 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
multiple colonic adenomatous polyps
multiple colorectal polyps

Neoplasia:
increased risk of colorectal carcinoma

Clinical features from OMIM:

608456

GenomeRNAi Phenotypes related to Familial Adenomatous Polyposis 2 according to GeneCards Suite gene sharing:

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.96 APEX1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.96 LIG4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 9.96 TOP1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.96 GGT2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.96 LIG4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-143 9.96 GGT2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 9.96 TOP1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.96 TOP1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-189 9.96 LIG4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 9.96 LIG4
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-199 9.96 APEX1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.96 GGT2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.96 LIG4
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-25 9.96 LIG4
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-52 9.96 LIG4
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.96 APEX1 LIG4 TOP1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-67 9.96 APEX1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 9.96 GGT2
19 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.1 LIG4
20 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 APEX2 MPG MUTYH OGG1 TOP1

MGI Mouse Phenotypes related to Familial Adenomatous Polyposis 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.65 APEX1 APEX2 GGT1 LIG4 MAP3K5 MAP3K6
2 neoplasm MP:0002006 9.17 APEX1 LIG4 MAP3K5 MAP3K6 MPG MUTYH
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Drugs & Therapeutics for Familial Adenomatous Polyposis 2

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Search Clinical Trials , NIH Clinical Center for Familial Adenomatous Polyposis 2

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Genetic Tests for Familial Adenomatous Polyposis 2

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Genetic tests related to Familial Adenomatous Polyposis 2:

# Genetic test Affiliating Genes
1 Adenomas, Multiple Colorectal 29
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Anatomical Context for Familial Adenomatous Polyposis 2

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MalaCards organs/tissues related to Familial Adenomatous Polyposis 2:

40
Colon, Testes
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Publications for Familial Adenomatous Polyposis 2

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Articles related to Familial Adenomatous Polyposis 2:

(show all 50)
# Title Authors PMID Year
1
First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. 56 6
21815886 2011
2
Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer. 56 6
17956577 2007
3
A kindred with MYH-associated polyposis and pilomatricomas. 6 56
15690400 2005
4
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 6 56
12606733 2003
5
Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. 56 6
12393807 2002
6
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 56 6
11818965 2002
7
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
8
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 6
25645574 2015
9
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 6
25394175 2015
10
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 6
25452455 2015
11
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
12
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 6
24310308 2014
13
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
14
MUTYH Polyposis 6
23035301 2012
15
Guidelines for the clinical management of familial adenomatous polyposis (FAP). 6
18194984 2008
16
Exposing the MYtH about base excision repair and human inherited disease. 56
12915454 2003
17
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. 56
12853198 2003
18
Oral and intestinal bacterial exotoxins: Potential linked to carcinogenesis. 61
32475520 2020
19
Isolation, functional characterization and efficacy of biofilm-forming rhizobacteria under abiotic stress conditions. 61
31372943 2019
20
Utilizing Whole Fusobacterium Genomes To Identify, Correct, and Characterize Potential Virulence Protein Families. 61
31501282 2019
21
Targeting Programmed Fusobacterium nucleatum Fap2 for Colorectal Cancer Therapy. 61
31635333 2019
22
The role of Fusobacterium nucleatum in colorectal cancer: from carcinogenesis to clinical management. 61
31891129 2019
23
Fusobacterium nucleatum Contributes to the Carcinogenesis of Colorectal Cancer by Inducing Inflammation and Suppressing Host Immunity. 61
30986689 2019
24
Fluorescent Pseudomonas -FAP2 and Bacillus licheniformis interact positively in biofilm mode enhancing plant growth and photosynthetic attributes. 61
30872708 2019
25
Fusobacterium nucleatum and colorectal cancer: A mechanistic overview. 61
30191984 2019
26
Fusobacterium nucleatum supresses anti-tumor immunity by activating CEACAM1. 61
31069151 2019
27
The Helicobacter pylori HopQ outermembrane protein inhibits immune cell activities. 61
30906650 2019
28
Immunogenicity of a Fap2 peptide mimotope of Fusobacterium nucleatum and its potential use in the diagnosis of colorectal cancer. 61
29619076 2018
29
Fusobacterium's link to colorectal neoplasia sequenced: A systematic review and future insights. 61
29358871 2017
30
Adrenal Lesions in Patients With (Attenuated) Familial Adenomatous Polyposis and MUTYH-Associated Polyposis. 61
28891849 2017
31
Carcinogenesis mechanisms of Fusobacterium nucleatum. 61
28292019 2017
32
Locoregional Effects of Microbiota in a Preclinical Model of Colon Carcinogenesis. 61
28416491 2017
33
Tumor Targeting by Fusobacterium nucleatum: A Pilot Study and Future Perspectives. 61
28713780 2017
34
The effect of a germline mutation in the APC gene on β-catenin in human embryonic stem cells. 61
28010732 2016
35
When Mr. Fap Meets the Gals. 61
27512897 2016
36
Fap2 Mediates Fusobacterium nucleatum Colorectal Adenocarcinoma Enrichment by Binding to Tumor-Expressed Gal-GalNAc. 61
27512904 2016
37
[Genetics of Colorectal Tumorigenesis (Possibilities of Testing and Screening Prediction of Hereditary Form of Colorectal Cancer--Lynch Syndrome)]. 61
26691943 2016
38
Fap2 of Fusobacterium nucleatum is a galactose-inhibitable adhesin involved in coaggregation, cell adhesion, and preterm birth. 61
25561710 2015
39
Binding of the Fap2 protein of Fusobacterium nucleatum to human inhibitory receptor TIGIT protects tumors from immune cell attack. 61
25680274 2015
40
Theoretical studies on electronic structures and photophysical properties of anthracene derivatives as hole-transporting materials for OLEDs. 61
24524931 2014
41
Fusobacterium nucleatum outer membrane proteins Fap2 and RadD induce cell death in human lymphocytes. 61
20823215 2010
42
Feeding mink (Neovison vison) a protein-restricted diet during pregnancy induces higher birth weight and altered hepatic gene expression in the F(2) offspring. 61
20334712 2010
43
Fusobacterium nucleatum apoptosis-inducing outer membrane protein. 61
16040725 2005
44
Prevention of colorectal cancer through the use of COX-2 selective inhibitors. 61
15309515 2004
45
Characterization of two fructosyl-amino acid oxidase homologs of Schizosaccharomyces pombe. 61
16233628 2004
46
Management and treatment outcome of pouch-vaginal fistulas following restorative proctocolectomy. 61
12847365 2003
47
Adenocarcinoma of the small bowel: a study of 37 cases with emphasis on histologic prognostic factors. 61
12432298 2002
48
Inhibition by apple polyphenols of ADP-ribosyltransferase activity of cholera toxin and toxin-induced fluid accumulation in mice. 61
12061627 2002
49
Functional outcome of conversion of ileorectal anastomosis to ileal pouch-anal anastomosis in patients with familial adenomatous polyposis and ulcerative colitis. 61
10411437 1999
50
Transient and steady-state kinetic studies of sodium-potassium adenosine triphosphatase using beta-(2-furyl)acryloyl phosphate as chromophoric substrate assay. 61
6260131 1981
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Variations for Familial Adenomatous Polyposis 2

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ClinVar genetic disease variations for Familial Adenomatous Polyposis 2:

6 (show top 50) (show all 824) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MUTYH NM_001350650.1(MUTYH):c.33+119_33+132dupduplication Pathogenic 406838 rs1553129652 1:45798824-45798825 1:45333152-45333153
2 MUTYH NM_001128425.1(MUTYH):c.586G>T (p.Glu196Ter)SNV Pathogenic 406822 rs745921592 1:45798350-45798350 1:45332678-45332678
3 MUTYH NM_001128425.1(MUTYH):c.1267G>T (p.Glu423Ter)SNV Pathogenic 406823 rs1060501321 1:45797148-45797148 1:45331476-45331476
4 MUTYH NM_001128425.1(MUTYH):c.1240C>T (p.Gln414Ter)SNV Pathogenic 406824 rs766420907 1:45797175-45797175 1:45331503-45331503
5 MUTYH NM_001128425.1(MUTYH):c.1281G>A (p.Trp427Ter)SNV Pathogenic 406830 rs1060501325 1:45797134-45797134 1:45331462-45331462
6 MUTYH NM_001293192.1(MUTYH):c.-153deldeletion Pathogenic 406847 rs1060501336 1:45800118-45800118 1:45334446-45334446
7 MUTYH NM_012222.2(MUTYH):c.707_712delinsCAGCTGCT (p.Val236fs)indel Pathogenic 418342 rs1064793197 1:45798130-45798135 1:45332458-45332463
8 MUTYH NC_000001.11:g.(?_45329306)_(45333324_?)deldeletion Pathogenic 437842 1:45794978-45798996 1:45329306-45333324
9 MUTYH NM_012222.2(MUTYH):c.1347del (p.Tyr450fs)deletion Pathogenic 464690 rs1553125243 1:45796974-45796974 1:45331302-45331302
10 MUTYH NM_001128425.1(MUTYH):c.37-1317_667deldeletion Pathogenic 464717 1:45798269-45801500 1:45332597-45335828
11 MUTYH NM_001350650.1(MUTYH):c.33+147deldeletion Pathogenic 464719 rs1553129638 1:45798810-45798810 1:45333138-45333138
12 MUTYH NM_001128425.1(MUTYH):c.308G>A (p.Trp103Ter)SNV Pathogenic 485909 rs1553130185 1:45799125-45799125 1:45333453-45333453
13 MUTYH NC_000001.11:g.(?_45332568)_(45334517_?)deldeletion Pathogenic 533332 1:45798240-45800189 1:45332568-45334517
14 MUTYH NC_000001.11:g.(?_45329300)_(45333609_?)deldeletion Pathogenic 533333 1:45794972-45799281 1:45329300-45333609
15 MUTYH NM_012222.2(MUTYH):c.1015_1037del (p.Cys339fs)deletion Pathogenic 533319 rs1553126848 1:45797473-45797495 1:45331801-45331823
16 MUTYH NM_012222.2(MUTYH):c.800delinsAG (p.Val267fs)indel Pathogenic 533305 rs1553127825 1:45797962-45797962 1:45332290-45332290
17 MUTYH NM_012222.2(MUTYH):c.1271_1280del (p.Trp424fs)deletion Pathogenic 533306 rs1553125677 1:45797126-45797135 1:45331454-45331463
18 MUTYH NM_001128425.1(MUTYH):c.971C>A (p.Ser324Ter)SNV Pathogenic 569689 rs558173961 1:45797721-45797721 1:45332049-45332049
19 MUTYH NM_001128425.1(MUTYH):c.789G>A (p.Trp263Ter)SNV Pathogenic 565890 rs1338038953 1:45797982-45797982 1:45332310-45332310
20 MUTYH NM_001128425.1(MUTYH):c.178G>T (p.Glu60Ter)SNV Pathogenic 582666 rs1557487793 1:45799255-45799255 1:45333583-45333583
21 MUTYH NM_012222.2(MUTYH):c.1501_1508delinsCCAACAGCCCA (p.Thr501_Met503delinsProThrAlaGln)indel Pathogenic 587356 rs1557451154 1:45796189-45796196 1:45330517-45330524
22 MUTYH NM_001128425.1(MUTYH):c.1264C>T (p.Gln422Ter)SNV Pathogenic 654529 1:45797151-45797151 1:45331479-45331479
23 MUTYH NM_001048174.2(MUTYH):c.1134del (p.Ser378_Val379insTer)deletion Pathogenic 663501 1:45797197-45797197 1:45331525-45331525
24 MUTYH NM_001128425.1(MUTYH):c.788G>A (p.Trp263Ter)SNV Pathogenic 641274 1:45798063-45798063 1:45332391-45332391
25 MUTYH NM_012222.2(MUTYH):c.624_651del (p.Leu209fs)deletion Pathogenic 662131 1:45798276-45798303 1:45332604-45332631
26 MUTYH NM_001048174.2(MUTYH):c.192dup (p.Val65fs)duplication Pathogenic 657663 1:45799156-45799157 1:45333484-45333485
27 MUTYH NM_001128425.1(MUTYH):c.43A>G (p.Met15Val)SNV Pathogenic 641313 1:45800177-45800177 1:45334505-45334505
28 MUTYH NC_000001.11:g.(?_45329296)_(45333334_?)deldeletion Pathogenic 639376 1:45794968-45799006 1:45329296-45333334
29 MUTYH NM_001128425.1(MUTYH):c.37-95_84delinsCindel Pathogenic 648550 1:45800136-45800278 1:45334464-45334606
30 MUTYH NC_000001.11:g.(?_45329306)_(45333334_?)deldeletion Pathogenic 832371 1:45794978-45799006
31 MUTYH NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter)SNV Pathogenic 859310 1:45799181-45799181 1:45333509-45333509
32 MUTYH NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs)deletion Pathogenic 854670 1:45800085-45800088 1:45334413-45334416
33 MUTYH NM_012222.2(MUTYH):c.1452del (p.Thr485fs)deletion Pathogenic 5295 rs146331482 1:45796869-45796869 1:45331197-45331197
34 MUTYH NM_001048171.1(MUTYH):c.270C>A (p.Tyr90Ter)SNV Pathogenic 5296 rs121908380 1:45799121-45799121 1:45333449-45333449
35 MUTYH NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)SNV Pathogenic 5297 rs121908381 1:45796892-45796892 1:45331220-45331220
36 MUTYH MUTYH, 2-BP INS, 1186GGinsertion Pathogenic 5300
37 MUTYH NM_001128425.1(MUTYH):c.348+33_*210delinsTAindel Pathogenic 30441 1:45794768-45799052 1:45329096-45333380
38 MUTYH NM_001128425.1(MUTYH):c.1418C>A (p.Ala473Asp)SNV Pathogenic 41041 rs200844166 1:45796912-45796912 1:45331240-45331240
39 MUTYH NM_001048171.1(MUTYH):c.970C>T (p.Gln324Ter)SNV Pathogenic 127835 rs587780082 1:45797507-45797507 1:45331835-45331835
40 MUTYH NM_001048173.1(MUTYH):c.1350_1352GGA[1] (p.Glu452del)short repeat Pathogenic 127838 rs587778541 1:45796891-45796893 1:45331219-45331221
41 MUTYH NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter)SNV Pathogenic 127845 rs587780088 1:45800165-45800165 1:45334493-45334493
42 MUTYH NM_001128425.1(MUTYH):c.940C>T (p.Gln314Ter)SNV Pathogenic 140876 rs587781338 1:45797752-45797752 1:45332080-45332080
43 MUTYH NM_001048171.1(MUTYH):c.247C>T (p.Arg83Ter)SNV Pathogenic 140827 rs138775799 1:45799144-45799144 1:45333472-45333472
44 MUTYH NM_001293192.1(MUTYH):c.-164deldeletion Pathogenic 141379 rs587781704 1:45800129-45800129 1:45334457-45334457
45 MUTYH NM_001048171.1(MUTYH):c.1172C>T (p.Pro391Leu)SNV Pathogenic 142604 rs529008617 1:45797201-45797201 1:45331529-45331529
46 MUTYH NM_001048171.1(MUTYH):c.697C>T (p.Arg233Ter)SNV Pathogenic 143003 rs587782885 1:45798112-45798112 1:45332440-45332440
47 MUTYH NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)SNV Pathogenic 156509 rs587783057 1:45797348-45797348 1:45331676-45331676
48 MUTYH NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)SNV Pathogenic 182689 rs143353451 1:45798466-45798466 1:45332794-45332794
49 MUTYH NM_001128425.1(MUTYH):c.799C>T (p.Gln267Ter)SNV Pathogenic 186651 rs786203115 1:45797972-45797972 1:45332300-45332300
50 MUTYH NM_001128425.1(MUTYH):c.1474A>T (p.Lys492Ter)SNV Pathogenic 216081 rs863224502 1:45796856-45796856 1:45331184-45331184

UniProtKB/Swiss-Prot genetic disease variations for Familial Adenomatous Polyposis 2:

73 (show all 22)
# Symbol AA change Variation ID SNP ID
1 MUTYH p.Tyr176Cys VAR_018873 rs34612342
2 MUTYH p.Gly393Asp VAR_018875 rs36053993
3 MUTYH p.Tyr125His VAR_026045
4 MUTYH p.Trp128Arg VAR_026046 rs730881832
5 MUTYH p.Arg179His VAR_026047 rs143353451
6 MUTYH p.Arg179Cys VAR_064939 rs747993448
7 MUTYH p.Arg182Trp VAR_064940 rs750592289
8 MUTYH p.Pro154Leu VAR_077646 rs777184451
9 MUTYH p.Tyr177Ser VAR_077647
10 MUTYH p.Arg182Gln VAR_077648 rs533899702
11 MUTYH p.Gly186Glu VAR_077649 rs754155145
12 MUTYH p.Gly213Glu VAR_077650 rs768553551
13 MUTYH p.Asn235Ser VAR_077654 rs105751776
14 MUTYH p.Arg242His VAR_077656 rs140342925
15 MUTYH p.Arg271Trp VAR_077659 rs769237459
16 MUTYH p.Met280Val VAR_077660 rs876659676
17 MUTYH p.Pro292Leu VAR_077663 rs374950566
18 MUTYH p.Pro377Thr VAR_077667
19 MUTYH p.Leu385Pro VAR_077668 rs106050133
20 MUTYH p.Pro402Leu VAR_077669 rs529008617
21 MUTYH p.Ala470Asp VAR_077674 rs200844166
22 MUTYH p.Ala486Thr VAR_077677 rs587782263

Sources

Expression for Familial Adenomatous Polyposis 2

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Search GEO for disease gene expression data for Familial Adenomatous Polyposis 2.
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Pathways for Familial Adenomatous Polyposis 2

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Pathways related to Familial Adenomatous Polyposis 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Telomere C-strand (Lagging Strand) Synthesis 65
Show member pathways
 12.38 TOP1 OGG1 MUTYH MPG APEX2 APEX1
2
Chks in Checkpoint Regulation 63
Show member pathways
 12.34 OGG1 MAP3K5 LIG4 APEX1
3
DNA Damage 4
12.03 TOP1 MUTYH LIG4 APEX1
4
p38 MAPK signaling pathway (Pathway Interaction Database) 1
10.87 MAP3K6 MAP3K5
5
Eicosanoid Synthesis 1
10.75 GGT2 GGT1
6
Aflatoxin activation and detoxification 65
10.68 GGT2 GGT1
7
Busulfan Pathway, Pharmacodynamics 60
Show member pathways
 10.57 MPG GGT2 GGT1 APEX1
8
Depurination 65
Show member pathways
 10.09 OGG1 MUTYH MPG
Sources

GO Terms for Familial Adenomatous Polyposis 2

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Cellular components related to Familial Adenomatous Polyposis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.61 TOP1 OGG1 MUTYH MPG LIG4 CLCA2
2 nuclear chromosome, telomeric region GO:0000784 8.8 LIG4 APEX1 ALYREF

Biological processes related to Familial Adenomatous Polyposis 2 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.85 OGG1 MUTYH MPG LIG4 APEX2 APEX1
2 DNA repair GO:0006281 9.8 OGG1 MUTYH MPG LIG4 APEX2 APEX1
3 response to estradiol GO:0032355 9.67 OGG1 GGT2 GGT1
4 DNA recombination GO:0006310 9.65 LIG4 APEX2 APEX1
5 zymogen activation GO:0031638 9.51 GGT2 GGT1
6 cellular response to stress GO:0033554 9.46 MAP3K6 MAP3K5
7 regulation of immune system process GO:0002682 9.43 GGT2 GGT1
8 glutathione catabolic process GO:0006751 9.43 GGTLC3 GGT2 GGT1
9 peptide modification GO:0031179 9.4 GGT2 GGT1
10 leukotriene D4 biosynthetic process GO:1901750 9.33 GGTLC3 GGT2 GGT1
11 depurination GO:0045007 9.13 OGG1 MUTYH MPG
12 base-excision repair GO:0006284 9.02 OGG1 MUTYH MPG APEX2 APEX1

Molecular functions related to Familial Adenomatous Polyposis 2 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.05 OGG1 MUTYH MPG GGT1 CLCA2 APEX2
2 lyase activity GO:0016829 9.71 OGG1 APEX2 APEX1
3 endonuclease activity GO:0004519 9.65 OGG1 APEX2 APEX1
4 damaged DNA binding GO:0003684 9.61 OGG1 MPG APEX1
5 MAP kinase kinase kinase activity GO:0004709 9.52 MAP3K6 MAP3K5
6 DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0003906 9.49 APEX2 APEX1
7 oxidized purine DNA binding GO:0032357 9.46 OGG1 MUTYH
8 phosphodiesterase I activity GO:0004528 9.4 APEX2 APEX1
9 peptidyltransferase activity GO:0000048 9.37 GGT2 GGT1
10 DNA N-glycosylase activity GO:0019104 9.33 OGG1 MUTYH MPG
11 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity GO:0034039 9.32 OGG1 MUTYH
12 double-stranded DNA 3'-5' exodeoxyribonuclease activity GO:0008311 9.26 APEX2 APEX1
13 class I DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0140078 9.13 OGG1 APEX2 APEX1
14 glutathione hydrolase activity GO:0036374 8.8 GGTLC3 GGT2 GGT1
Sources

Sources for Familial Adenomatous Polyposis 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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