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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:purine nucleoside phosphorylase deficiency
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Accession:DOID:5813 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function. (DO)
Synonyms:exact_synonym: PNP deficiency;   deficiency of inosine phosphorylase;   nucleoside phosphorylase deficiency
 related_synonym: nucleoside phosphorylase polymorphism
 primary_id: MESH:C562587
 alt_id: OMIM:613179
 xref: GARD:4606;   ICD10CM:D81.5;   NCI:C176817;   NCI:C3963;   ORDO:760
For additional species annotation, visit the Alliance of Genome Resources.


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purine nucleoside phosphorylase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ang angiogenin ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785 		JBrowse link
G Arhgef40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,672,645...24,696,510
Ensembl chr15:24,672,763...24,696,510 		JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285 		JBrowse link
G Eddm3b epididymal protein 3B ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,343,992...24,346,759
Ensembl chr15:24,345,573...24,346,025 		JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183 		JBrowse link
G LOC103693823 epididymal secretory protein E3-beta-like ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,385,585...24,386,643
Ensembl chr15:24,386,192...24,386,623 		JBrowse link
G Mettl17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,582,296...24,589,029
Ensembl chr15:24,582,406...24,589,026 		JBrowse link
G Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041 		JBrowse link
G Ndrg2 NDRG family member 2 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,600,981...24,609,621
Ensembl chr15:24,600,982...24,609,626 		JBrowse link
G Or5au1 olfactory receptor family 5 subfamily AU member 1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,736,872...24,742,314
Ensembl chr15:24,737,497...24,743,632 		JBrowse link
G Or6s1 olfactory receptor family 6 subfamily S member 1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,291,540...24,292,535
Ensembl chr15:24,291,243...24,295,559 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568 		JBrowse link
G Pip4p1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,146,854...24,150,739
Ensembl chr15:24,146,856...24,150,702 		JBrowse link
G Pnp purine nucleoside phosphorylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency		 OMIM
CTD
ClinVar		 PMID:1384322 PMID:1560016 PMID:3029074 PMID:8931706 PMID:9067751 More... NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986 		JBrowse link
G Rab2b RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,968,364...24,988,990
Ensembl chr15:24,968,803...24,989,113 		JBrowse link
G Rnase1 ribonuclease A family member 1, pancreatic ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,361,924...24,363,633
Ensembl chr15:24,361,927...24,363,624 		JBrowse link
G Rnase10 ribonuclease A family member 10 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,226,687...24,229,149
Ensembl chr15:24,226,691...24,228,561 		JBrowse link
G Rnase11 ribonuclease A family member 11 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,268,206...24,270,192
Ensembl chr15:24,268,207...24,270,192 		JBrowse link
G Rnase12 ribonuclease A family member 12 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,275,767...24,286,843
Ensembl chr15:24,275,774...24,276,702 		JBrowse link
G Rnase13 ribonuclease A family member 13 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,618,209...24,618,670
Ensembl chr15:24,618,209...24,618,670 		JBrowse link
G Rnase2 ribonuclease A family member 2 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,449,618...24,450,427
Ensembl chr15:24,449,611...24,450,479 		JBrowse link
G Rnase3 ribonuclease A family member 3 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790 		JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117 		JBrowse link
G Rnase6 ribonuclease A family member k6 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,354,305...24,357,289
Ensembl chr15:24,354,303...24,357,328 		JBrowse link
G Rnase9 ribonuclease A family member 9 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,259,525...24,263,079
Ensembl chr15:24,259,525...24,263,079 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605 		JBrowse link
G Sall2 spalt-like transcription factor 2 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:25,021,345...25,038,918
Ensembl chr15:25,021,345...25,038,918 		JBrowse link
G Slc39a2 solute carrier family 39 member 2 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,590,738...24,592,850
Ensembl chr15:24,590,738...24,592,850 		JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846 		JBrowse link
G Tmem253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,706,517...24,709,107
Ensembl chr15:24,706,529...24,708,625 		JBrowse link
G Tox4 TOX high mobility group box family member 4 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,989,246...25,002,833
Ensembl chr15:24,988,853...25,002,833 		JBrowse link
G Tppp2 tubulin polymerization-promoting protein family member 2 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,614,284...24,627,123
Ensembl chr15:24,614,006...24,618,967 		JBrowse link
G Zfp219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:24,695,831...24,710,039
Ensembl chr15:24,695,837...24,710,030 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6256
          purine-pyrimidine metabolic disorder 203
            purine nucleoside phosphorylase deficiency 34
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          monogenic disease 10419
            autosomal genetic disease 9577
              autosomal recessive disease 6657
                purine nucleoside phosphorylase deficiency 34
paths to the root