Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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: ICD10CM:D12.6;   ORDO:247798
For additional species annotation, visit the Alliance of Genome Resources.



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 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis 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: MUTYH-related attenuated familial adenomatous polyposis ClinVar PMID:28492532 NCBI chr 5:130,469,841...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: MUTYH-related attenuated familial adenomatous polyposis ClinVar PMID:28492532 NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis ClinVar PMID:25741868 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: MUTYH-associated polyposis | ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis OMIM
ClinVar
PMID:2084865 PMID:9536098 PMID:9846876 PMID:10612827 PMID:11092888 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: MUTYH-related attenuated familial adenomatous polyposis ClinVar PMID:28492532 NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis ClinVar PMID:25741868 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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: MUTYH-related attenuated familial adenomatous polyposis ClinVar PMID:9536098 PMID:12056405 PMID:14618256 PMID:16408224 PMID:17576681 More... NCBI chr 5:130,270,485...130,274,050
Ensembl chr 5:130,262,319...130,274,050
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis 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: MUTYH-related attenuated familial adenomatous polyposis 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: MUTYH-related attenuated familial adenomatous polyposis ClinVar PMID:28492532 NCBI chr 5:130,346,519...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 18154
    syndrome 9705
      Hereditary Neoplastic Syndromes 1055
        familial adenomatous polyposis 404
          familial adenomatous polyposis 2 12
Path 2
Term Annotations click to browse term
  disease 18154
    disease of cellular proliferation 7341
      Neoplasms by Site 6971
        Digestive System Neoplasms 3756
          Gastrointestinal Neoplasms 3632
            Intestinal Neoplasms 1753
              Colorectal Neoplasms 1734
                familial adenomatous polyposis 404
                  familial adenomatous polyposis 2 12
paths to the root