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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:Inosine Triphosphatase Deficiency
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Accession:DOID:9004174 term browser browse the term
Synonyms:exact_synonym: INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY
 primary_id: MESH:C564127;   RDO:0013189
 alt_id: OMIM:613850
 xref: NCI:C129974
For additional species annotation, visit the Alliance of Genome Resources.



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Inosine Triphosphatase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam33 ADAM metallopeptidase domain 33 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:118,262,395...118,283,461
Ensembl chr 3:118,271,029...118,283,461
JBrowse link
G Ap5s1 adaptor related protein complex 5 subunit sigma 1 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:118,429,618...118,436,256
Ensembl chr 3:118,429,637...118,432,926
JBrowse link
G Atrn attractin ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:118,110,320...118,244,326
Ensembl chr 3:118,110,229...118,244,322
JBrowse link
G Cdc25b cell division cycle 25B ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:118,407,127...118,417,272
Ensembl chr 3:118,407,128...118,417,272
JBrowse link
G Cenpb centromere protein B ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:118,396,987...118,399,788
Ensembl chr 3:118,388,546...118,400,470
JBrowse link
G Dnaaf9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:117,918,047...118,052,641
Ensembl chr 3:117,921,620...118,052,630
JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329
JBrowse link
G Hspa12b heat shock protein family A (Hsp70) member 12B ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:118,346,322...118,364,737
Ensembl chr 3:118,346,354...118,364,737
JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY
ClinVar Annotator: match by term: Inosine triphosphatase deficiency
OMIM
ClinVar
PMID:9536098 PMID:11278832 PMID:12384777 PMID:12436200 PMID:15973722 More... NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Mavs mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:118,451,650...118,466,094
Ensembl chr 3:118,451,743...118,466,094
JBrowse link
G Mir103a2 microRNA 103a-2 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:118,510,194...118,510,279
Ensembl chr 3:118,510,194...118,510,279
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320
JBrowse link
G RGD1311739 similar to RIKEN cDNA 1700037H04 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:118,364,730...118,378,881
Ensembl chr 3:118,362,363...118,378,838
JBrowse link
G Siglec1 sialic acid binding Ig like lectin 1 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:118,287,988...118,307,125
Ensembl chr 3:118,287,988...118,306,850
JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
JBrowse link
G Spef1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:118,390,659...118,396,842
Ensembl chr 3:118,390,575...118,394,531
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          Inosine Triphosphatase Deficiency 16
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            Inosine Triphosphatase Deficiency 16
paths to the root