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Pathways
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PATHWAY ONTOLOGY - ANNOTATIONS

The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (http://rgd.mcw.edu/contact/index.shtml).
Term:purine nucleoside phosphorylase deficiency pathway
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Accession:PW:0001777 term browser browse the term
Definition:A rather rare autosomal recessive immunodeficiency resulting from decreased T-cell function. Disruption of purine nucleoside phosphorylase results in an altered purine salvage pathway.
Synonyms:exact_synonym: PNP deficiency pathway;   deficiency of inosine phosphorylase pathway
 related_synonym: SMP:00210


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purine nucleoside phosphorylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00210 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00210 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951 		JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00210 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760 		JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00210 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604 		JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00210 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00210 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00210 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00210 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00210 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00210 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00210 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00210 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00210 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125 		JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00210 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416 		JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00210 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621 		JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00210 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875 		JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00210 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203 		JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00210 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916 		JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00210 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00210 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00210 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076 		JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00210 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00210 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00210 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00210 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00210 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001 		JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00210 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635 		JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00210 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563 		JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00210 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00210 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420 		JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00210 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986 		JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00210 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144 		JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00210 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291 		JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00210 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261 		JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00210 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773 		JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00210 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629 		JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00210 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      congenital disease pathway 530
        inborn genetic disease pathway 530
          inborn error of metabolism pathway 530
            inborn error of purine-pyrimidine metabolism pathway 110
              purine nucleoside phosphorylase deficiency pathway 37
paths to the root