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acrokeratosis verruciformis - Ontology Report - Rat Genome Database

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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:acrokeratosis verruciformis
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Accession:DOID:0050606 term browser browse the term
Definition:A keratosis that has_material_basis_in mutations in the ATP2A2 gene. (DO)
Synonyms:exact_synonym: AKV;   Hopf acrokeratosis verruciformis;   Hopf disease;   acrokeratosis verruciformis of Hopf
 broad_synonym: ATP2A2-RELATED CONDITION
 xref: EFO:1000666;   MIM:101900;   MONDO:0007048

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acrokeratosis verruciformis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: ATP2A2-related condition | ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf OMIM
ClinVar		 PMID:11244492 PMID:12542527 PMID:20518781 PMID:22814319 PMID:24033266 More... NCBI chrNW_004624747:21,509,360...21,567,424
Ensembl chrNW_004624747:21,509,366...21,568,098 		JBrowse link
G G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: ATP2A2-related condition | ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf OMIM
ClinVar		 PMID:11244492 PMID:12542527 PMID:20518781 PMID:22814319 PMID:24033266 More... NCBI chr11:105,522,175...105,590,291
Ensembl chr11:105,522,157...105,590,958 		JBrowse link
G P ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: ATP2A2-related condition | ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf OMIM
ClinVar		 PMID:11244492 PMID:12542527 PMID:20518781 PMID:22814319 PMID:24033266 More... NCBI chr14:31,674,659...31,744,981
Ensembl chr14:31,674,757...31,744,969 		JBrowse link
G S Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: ATP2A2-related condition | ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf OMIM
ClinVar		 PMID:11244492 PMID:12542527 PMID:20518781 PMID:22814319 PMID:24033266 More... NCBI chrNW_004936558:3,300,941...3,357,595
Ensembl chrNW_004936558:3,300,941...3,357,941 		JBrowse link
G D ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: ATP2A2-related condition | ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf OMIM
ClinVar		 PMID:11244492 PMID:12542527 PMID:20518781 PMID:22814319 PMID:24033266 More... NCBI chr26:8,148,181...8,209,392
Ensembl chr26:8,148,236...8,209,388 		JBrowse link
G B ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: ATP2A2-related condition | ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf OMIM
ClinVar		 PMID:11244492 PMID:12542527 PMID:20518781 PMID:22814319 PMID:24033266 More... NCBI chr12:107,857,009...107,924,938
Ensembl chr12:111,246,508...111,311,923 		JBrowse link
G C Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: ATP2A2-related condition | ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf OMIM
ClinVar		 PMID:11244492 PMID:12542527 PMID:20518781 PMID:22814319 PMID:24033266 More... NCBI chrNW_004955482:7,233,336...7,295,754
Ensembl chrNW_004955482:7,233,336...7,295,754 		JBrowse link
G R Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: ATP2A2-related condition | ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf OMIM
ClinVar		 PMID:11244492 PMID:12542527 PMID:20518781 PMID:22814319 PMID:24033266 More... NCBI chr12:39,733,519...39,782,942
Ensembl chr12:34,072,683...34,122,101 		JBrowse link
G M Atp2a2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 ISO ClinVar Annotator: match by term: ATP2A2-related condition | ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf OMIM
ClinVar		 PMID:11244492 PMID:12542527 PMID:20518781 PMID:22814319 PMID:24033266 More... NCBI chr 5:122,591,576...122,640,288
Ensembl chr 5:122,591,576...122,640,288 		JBrowse link
G H ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 IAGP ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf
ClinVar Annotator: match by term: ATP2A2-related condition | ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf		 ClinVar
OMIM		 PMID:11244492 PMID:12542527 PMID:20518781 PMID:22814319 PMID:24033266 More... NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093 		JBrowse link
G H LOC126861637 MED14-independent group 3 enhancer GRCh37_chr12:110778306-110779505 IAGP ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf ClinVar PMID:12542527 PMID:20518781 PMID:22814319 PMID:25622760 PMID:25741868 More... NCBI chr12:110,340,501...110,341,700 JBrowse link
G H LOC126861638 MED14-independent group 3 enhancer GRCh37_chr12:110782389-110783588 IAGP ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf
ClinVar Annotator: match by term: ATP2A2-related condition		 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:110,344,584...110,345,783 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      skin disease 49602
        keratosis 2011
          acrokeratosis verruciformis 12
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal dominant disease 157513
                acrokeratosis verruciformis 12
paths to the root