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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:familial adenomatous polyposis 2
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Accession:DOID:0080410 term browser browse the term
Definition:A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34. (DO)
Synonyms:exact_synonym: Colorectal Adenomatous Polyposis, Autosomal Recessive;   FAP2;   MUTYH-related attenuated FAP;   MUTYH-related attenuated familial adenomatous polyposis;   MUTYH-related attenuated familial polyposis coli;   multiple colorectal adenomas, autosomal recessive;   mutyh-associated polyposis
 narrow_synonym: COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS
 primary_id: MESH:C563924
 alt_id: OMIM:608456
 xref: EFO:0009296;   ICD10CM:D12.6;   ORDO:247798


show annotations for term's descendants           Sort by:
familial adenomatous polyposis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bard1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 2 ClinVar PMID:25186627 PMID:25741868 PMID:26315354 PMID:26467025 PMID:27443514 More... NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265 		JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 2 ClinVar PMID:28492532 NCBI chr 5:130,492,167...130,558,692
Ensembl chr 5:130,492,220...130,563,332 		JBrowse link
G Hectd3 HECT domain E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 2 ClinVar PMID:28492532 NCBI chr 5:130,469,840...130,479,802
Ensembl chr 5:130,469,840...130,478,561 		JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 2 ClinVar PMID:16557584 PMID:17949294 PMID:19806110 PMID:25820570 PMID:28492532 NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233 		JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial adenomatous polyposis 2 | ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis		 OMIM
ClinVar
CTD		 PMID:166460 PMID:186631 PMID:517270 PMID:545764 PMID:2084865 More... NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 2 ClinVar PMID:28492532 NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis ClinVar PMID:25741868 PMID:26467025 PMID:28135145 PMID:28492532 PMID:33471991 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Toe1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 2 | ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis ClinVar PMID:9536098 PMID:12056405 PMID:14618256 PMID:16199547 PMID:16408224 More... NCBI chr 5:130,270,484...130,274,050
Ensembl chr 5:130,262,319...130,274,050 		JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 2 ClinVar PMID:28492532 NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 2 ClinVar PMID:17970811 PMID:25741868 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Zswim5 zinc finger, SWIM-type containing 5 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 2 ClinVar PMID:28492532 NCBI chr 5:130,346,733...130,463,791
Ensembl chr 5:130,343,034...130,463,784 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Hereditary Neoplastic Syndromes 1284
        familial adenomatous polyposis 402
          familial adenomatous polyposis 2 11
Path 2
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      Neoplasms by Site 7143
        Digestive System Neoplasms 3837
          Gastrointestinal Neoplasms 3712
            Intestinal Neoplasms 1811
              Colorectal Neoplasms 1792
                familial adenomatous polyposis 402
                  familial adenomatous polyposis 2 11
paths to the root