Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


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:28492532 NCBI chr20:3,750,158...3,764,262
Ensembl chr20:3,508,620...3,521,628 		JBrowse link
G ADISSP adipose secreted signaling protein ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr20:3,836,066...3,850,936
Ensembl chr20:3,593,404...3,608,267 		JBrowse link
G AP5S1 adaptor related protein complex 5 subunit sigma 1 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 Ensembl chr20:3,659,526...3,664,347 JBrowse link
G ATRN attractin ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr20:3,556,445...3,733,322
Ensembl chr20:3,315,278...3,486,628 		JBrowse link
G AVP arginine vasopressin ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr20:3,169,094...3,172,900 JBrowse link
G CDC25B cell division cycle 25B ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr20:3,877,255...3,883,458
Ensembl chr20:3,626,107...3,645,179 		JBrowse link
G CENPB centromere protein B ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr20:3,864,902...3,867,790
Ensembl chr20:3,622,529...3,624,329 		JBrowse link
G DDRGK1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:26224535 PMID:28492532 NCBI chr20:3,276,292...3,290,433
Ensembl chr20:3,038,779...3,052,789 		JBrowse link
G DNAAF9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr20:3,334,937...3,495,391
Ensembl chr20:3,095,697...3,254,388 		JBrowse link
G FASTKD5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr20:3,232,902...3,246,237 JBrowse link
G GFRA4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr20:3,740,538...3,745,601 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 chr20:3,815,293...3,835,683
Ensembl chr20:3,572,535...3,593,021 		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:16199547 More... NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924 		JBrowse link
G LZTS3 leucine zipper tumor suppressor family member 3 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr20:3,248,955...3,259,932
Ensembl chr20:3,011,611...3,022,573 		JBrowse link
G MAVS mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr20:3,885,044...3,903,554
Ensembl chr20:3,659,559...3,701,089 		JBrowse link
G PANK2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr20:3,924,054...3,959,393
Ensembl chr20:3,723,211...3,757,748 		JBrowse link
G SIGLEC1 sialic acid binding Ig like lectin 1 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr20:3,769,118...3,795,678
Ensembl chr20:3,526,791...3,552,309 		JBrowse link
G SLC4A11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr20:3,311,640...3,324,966
Ensembl chr20:3,074,804...3,086,157 		JBrowse link
G SPEF1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr20:3,858,548...3,863,150
Ensembl chr20:3,615,358...3,619,390 		JBrowse link
G UBOX5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Inosine triphosphatase deficiency ClinVar PMID:28492532 NCBI chr20:3,196,189...3,246,238
Ensembl chr20:2,958,062...3,008,905 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7186
      disease of metabolism 7186
        inherited metabolic disorder 5523
          Inosine Triphosphatase Deficiency 20
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          inherited metabolic disorder 5523
            Inosine Triphosphatase Deficiency 20
paths to the root