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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 3:138,715,428...138,736,392
Ensembl chr 3:138,724,046...138,736,347 		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 3:138,817,752...138,832,208
Ensembl chr 3:138,813,179...138,831,847 		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 3:139,246,333...139,262,331
Ensembl chr 3:139,246,323...139,262,331 		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 3:138,882,634...138,885,940
Ensembl chr 3:138,882,634...138,888,899 		JBrowse link
G Atrn attractin ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:138,563,271...138,697,360
Ensembl chr 3:138,563,312...138,697,360 		JBrowse link
G Avp arginine vasopressin ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:138,246,544...138,248,522
Ensembl chr 3:138,246,554...138,248,522 		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 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760 		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 3:138,860,148...138,870,287
Ensembl chr 3:138,860,130...138,870,492 		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 3:139,967,870...140,006,459
Ensembl chr 3:139,967,742...140,009,201 		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 3:138,850,003...138,852,796
Ensembl chr 3:138,841,679...138,854,372 		JBrowse link
G Chgb chromogranin B ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:140,496,712...140,510,057
Ensembl chr 3:140,495,951...140,510,054 		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 3:140,572,680...140,591,543
Ensembl chr 3:140,572,716...140,591,599 		JBrowse link
G Ddrgk1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 NCBI chr 3:138,315,006...138,336,691
Ensembl chr 3:138,315,282...138,335,766 		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 3:138,370,971...138,505,711
Ensembl chr 3:138,372,531...138,505,695 		JBrowse link
G Fastkd5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:138,283,315...138,300,803
Ensembl chr 3:138,272,928...138,301,291 		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 3:140,624,434...140,666,419
Ensembl chr 3:140,624,434...140,666,419 		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 3:138,707,970...138,715,279
Ensembl chr 3:138,703,114...138,711,561 		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 3:140,240,574...140,285,469
Ensembl chr 3:140,240,575...140,285,372 		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 3:138,799,396...138,817,396
Ensembl chr 3:138,799,398...138,818,935 		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:11283794 PMID:12384777 PMID:12436200 More... NCBI chr 3:138,338,549...138,350,329
Ensembl chr 3:138,338,349...138,350,329 		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 3:140,592,303...140,603,986
Ensembl chr 3:140,592,076...140,605,574 		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 3:138,303,378...138,313,645
Ensembl chr 3:138,303,378...138,313,611 		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 3:138,904,673...138,919,129
Ensembl chr 3:138,904,771...138,919,126 		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 3:140,539,590...140,569,891
Ensembl chr 3:140,539,647...140,569,891 		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 3:138,963,227...138,963,312
Ensembl chr 3:138,963,227...138,963,312 		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 3:138,936,448...138,974,196
Ensembl chr 3:138,936,452...138,974,194 		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 3:139,951,948...139,955,820
Ensembl chr 3:139,951,941...139,955,901 		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 3:139,666,383...139,671,647
Ensembl chr 3:139,666,068...139,671,890 		JBrowse link
G Prnp prion protein ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:139,630,144...139,658,436 		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 3:140,077,629...140,092,327
Ensembl chr 3:140,077,630...140,092,093 		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 3:139,697,187...139,733,402
Ensembl chr 3:139,697,187...139,733,368 		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 3:138,973,492...138,987,354
Ensembl chr 3:138,973,492...139,028,177 		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 3:140,391,611...140,462,273
Ensembl chr 3:140,389,220...140,462,609 		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 3:138,740,171...138,759,966
Ensembl chr 3:138,741,019...138,759,881 		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 3:139,755,583...139,913,304
Ensembl chr 3:139,755,584...139,847,343 		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 3:138,353,305...138,365,983
Ensembl chr 3:138,353,305...138,365,754 		JBrowse link
G Smox spermine oxidase ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 PMID:34989426 NCBI chr 3:139,184,793...139,220,174
Ensembl chr 3:139,184,798...139,220,170
Ensembl chr  X:139,184,798...139,220,170 		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 3:138,843,679...138,849,762 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 3:139,925,878...139,950,517 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 3:140,527,785...140,539,520
Ensembl chr 3:140,527,788...140,539,509 		JBrowse link
G Ubox5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:138,259,311...138,300,807
Ensembl chr 3:138,259,311...138,300,807 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    Nutritional and Metabolic Diseases 8562
      disease of metabolism 8562
        inherited metabolic disorder 6649
          Inosine Triphosphatase Deficiency 41
Path 2
Term Annotations click to browse term
  disease 19150
    Developmental Disease 14695
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13757
        genetic disease 13375
          inherited metabolic disorder 6649
            Inosine Triphosphatase Deficiency 41
paths to the root