MCID: PLY138
MIFTS: 17

Polymerase Proofreading-Related Adenomatous Polyposis

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Polymerase Proofreading-Related Adenomatous Polyposis

MalaCards integrated aliases for Polymerase Proofreading-Related Adenomatous Polyposis:

Name: Polymerase Proofreading-Related Adenomatous Polyposis 59
Ppap 59

Characteristics:

Orphanet epidemiological data:

59

Classifications:



External Ids:

Orphanet 59 ORPHA447877
ICD10 via Orphanet 34 D12.6

Summaries for Polymerase Proofreading-Related Adenomatous Polyposis

MalaCards based summary : Polymerase Proofreading-Related Adenomatous Polyposis, also known as ppap, is related to breast mucinous carcinoma and lynch syndrome. An important gene associated with Polymerase Proofreading-Related Adenomatous Polyposis is POLE (DNA Polymerase Epsilon, Catalytic Subunit), and among its related pathways/superpathways are Telomere C-strand (Lagging Strand) Synthesis and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include colon.

Related Diseases for Polymerase Proofreading-Related Adenomatous Polyposis

Diseases related to Polymerase Proofreading-Related Adenomatous Polyposis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 breast mucinous carcinoma 9.2 POLD1 POLE
2 lynch syndrome 9.0 POLD1 POLE

Symptoms & Phenotypes for Polymerase Proofreading-Related Adenomatous Polyposis

Drugs & Therapeutics for Polymerase Proofreading-Related Adenomatous Polyposis

Search Clinical Trials , NIH Clinical Center for Polymerase Proofreading-Related Adenomatous Polyposis

Genetic Tests for Polymerase Proofreading-Related Adenomatous Polyposis

Anatomical Context for Polymerase Proofreading-Related Adenomatous Polyposis

MalaCards organs/tissues related to Polymerase Proofreading-Related Adenomatous Polyposis:

41
Colon

Publications for Polymerase Proofreading-Related Adenomatous Polyposis

Variations for Polymerase Proofreading-Related Adenomatous Polyposis

Expression for Polymerase Proofreading-Related Adenomatous Polyposis

Search GEO for disease gene expression data for Polymerase Proofreading-Related Adenomatous Polyposis.

Pathways for Polymerase Proofreading-Related Adenomatous Polyposis

Pathways related to Polymerase Proofreading-Related Adenomatous Polyposis according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.25 POLD1 POLE
2
Show member pathways
12.23 POLD1 POLE
3
Show member pathways
12.08 POLD1 POLE
4
Show member pathways
12.02 POLD1 POLE
5
Show member pathways
11.96 POLD1 POLE
6 11.81 POLD1 POLE
7
Show member pathways
11.74 POLD1 POLE
8
Show member pathways
11.62 POLD1 POLE
9
Show member pathways
11.54 POLD1 POLE
10
Show member pathways
11.22 POLD1 POLE
11
Show member pathways
10.95 POLD1 POLE
12 10.26 POLD1 POLE

GO Terms for Polymerase Proofreading-Related Adenomatous Polyposis

Biological processes related to Polymerase Proofreading-Related Adenomatous Polyposis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.48 POLD1 POLE
2 DNA repair GO:0006281 9.46 POLD1 POLE
3 DNA replication GO:0006260 9.43 POLD1 POLE
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.4 POLD1 POLE
5 DNA synthesis involved in DNA repair GO:0000731 9.37 POLD1 POLE
6 DNA biosynthetic process GO:0071897 9.32 POLD1 POLE
7 telomere maintenance via semi-conservative replication GO:0032201 9.26 POLD1 POLE
8 nucleotide-excision repair, DNA gap filling GO:0006297 9.16 POLD1 POLE
9 base-excision repair, gap-filling GO:0006287 8.96 POLD1 POLE
10 DNA replication proofreading GO:0045004 8.62 POLD1 POLE

Molecular functions related to Polymerase Proofreading-Related Adenomatous Polyposis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.4 POLD1 POLE
2 nucleotide binding GO:0000166 9.37 POLD1 POLE
3 nucleotidyltransferase activity GO:0016779 9.32 POLD1 POLE
4 iron-sulfur cluster binding GO:0051536 9.26 POLD1 POLE
5 4 iron, 4 sulfur cluster binding GO:0051539 9.16 POLD1 POLE
6 DNA-directed DNA polymerase activity GO:0003887 8.96 POLD1 POLE
7 3-5 exonuclease activity GO:0008408 8.62 POLD1 POLE

Sources for Polymerase Proofreading-Related Adenomatous Polyposis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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