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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: MIM:613850
 xref: NCI:C129974


show annotations for term's descendants           Sort by:
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:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461 		JBrowse link
G Adissp adipose secreted signaling protein ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:118,364,730...118,378,881
Ensembl chr 3:118,362,363...118,378,838 		JBrowse link
G Adra1d adrenoceptor alpha 1D ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:118,793,356...118,809,354
Ensembl chr 3:118,793,346...118,809,354 		JBrowse link
G Ap5s1 adaptor related protein complex 5 subunit sigma 1 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:118,429,618...118,432,929
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:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:118,110,320...118,244,326
Ensembl chr 3:118,110,229...118,244,322 		JBrowse link
G Avp arginine vasopressin ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Cdc25b cell division cycle 25B ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:118,407,127...118,417,272
Ensembl chr 3:118,407,128...118,417,272 		JBrowse link
G Cds2 CDP-diacylglycerol synthase 2 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:119,514,963...119,553,555
Ensembl chr 3:119,515,000...119,553,541 		JBrowse link
G Cenpb centromere protein B ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:118,396,987...118,399,780
Ensembl chr 3:118,388,546...118,400,470 		JBrowse link
G Chgb chromogranin B ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:120,043,824...120,057,169
Ensembl chr 3:120,043,738...120,057,166 		JBrowse link
G Crls1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:120,119,822...120,138,674
Ensembl chr 3:120,119,852...120,138,655 		JBrowse link
G Ddrgk1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 NCBI chr 3:117,861,916...117,882,680
Ensembl chr 3:117,861,653...117,882,680 		JBrowse link
G Dnaaf9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:117,918,047...118,052,641
Ensembl chr 3:117,921,620...118,052,630 		JBrowse link
G Fastkd5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:117,830,219...117,847,707
Ensembl chr 3:117,830,083...117,847,820 		JBrowse link
G Fermt1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:120,171,301...120,213,555
Ensembl chr 3:120,171,561...120,213,555 		JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329 		JBrowse link
G Gpcpd1 glycerophosphocholine phosphodiesterase 1 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:119,787,681...119,832,550
Ensembl chr 3:119,787,682...119,832,517 		JBrowse link
G Hspa12b heat shock protein family A (Hsp70) member 12B ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:118,346,372...118,364,374
Ensembl chr 3:118,346,354...118,364,737 		JBrowse link
G Itpa inosine triphosphatase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY | ClinVar Annotator: match by term: Inosine triphosphatase deficiency		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11278832 PMID:12384777 PMID:12436200 PMID:16199547 More... NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Lrrn4 leucine rich repeat neuronal 4 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:120,138,093...120,150,877
Ensembl chr 3:120,139,410...120,150,831 		JBrowse link
G Lzts3 leucine zipper tumor suppressor family member 3 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:117,850,286...117,861,132
Ensembl chr 3:117,851,702...117,860,081 		JBrowse link
G Mavs mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:118,451,650...118,466,094
Ensembl chr 3:118,451,743...118,466,094 		JBrowse link
G Mcm8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:120,086,741...120,117,008
Ensembl chr 3:120,086,763...120,117,008 		JBrowse link
G Mir103a2 microRNA 103a-2 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 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:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
G Prnd prion like protein doppel ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:119,213,462...119,218,742
Ensembl chr 3:119,213,429...119,218,745 		JBrowse link
G Prnp prion protein ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718 		JBrowse link
G Rassf2 Ras association domain family member 2 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:119,244,288...119,280,462
Ensembl chr 3:119,245,821...119,280,431 		JBrowse link
G Rnf24 ring finger protein 24 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:118,520,459...118,575,213
Ensembl chr 3:118,525,349...118,541,080 		JBrowse link
G Shld1 shieldin complex subunit 1 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:119,938,695...120,011,068
Ensembl chr 3:119,938,833...120,009,550 		JBrowse link
G Siglec1 sialic acid binding Ig like lectin 1 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:118,287,988...118,307,125
Ensembl chr 3:118,287,988...118,306,850 		JBrowse link
G Slc23a2 solute carrier family 23 member 2 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:119,302,651...119,395,289
Ensembl chr 3:119,302,666...119,460,343 		JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674 		JBrowse link
G Smox spermine oxidase ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:118,731,814...118,767,242
Ensembl chr 3:118,731,900...118,765,710
Ensembl chr  X:118,731,900...118,765,710 		JBrowse link
G Spef1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:118,390,659...118,396,842
Ensembl chr 3:118,390,575...118,394,531 		JBrowse link
G Tmem230 transmembrane protein 230 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:119,473,109...119,497,617
Ensembl chr 3:119,480,735...119,497,614 		JBrowse link
G Trmt6 tRNA methyltransferase 6 non-catalytic subunit ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:120,074,899...120,086,639
Ensembl chr 3:120,074,911...120,086,559 		JBrowse link
G Ubox5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:117,806,212...117,847,711
Ensembl chr 3:117,807,092...117,847,722 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    Nutritional and Metabolic Diseases 8520
      disease of metabolism 8520
        inherited metabolic disorder 6605
          Inosine Triphosphatase Deficiency 41
Path 2
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          inherited metabolic disorder 6605
            Inosine Triphosphatase Deficiency 41
paths to the root