Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:adenosine monophosphate deaminase deficiency pathway
go back to main search page
Accession:PW:0001779 term browser browse the term
Definition:A rare recessive metabolic disorder arising from alteration in the purine metabolic pathway.
Synonyms:related_synonym: SMP:00537;   myo;   myoadenylate deaminase deficiency



show annotations for term's descendants           Sort by:
adenosine monophosphate deaminase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO SMPDB SMP:00537 NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00537 NCBI chr 1:143,239,576...143,404,038
Ensembl chr 1:147,023,671...147,129,705
JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00537 NCBI chr22:21,249,920...21,271,749
Ensembl chr22:39,068,764...39,389,221
JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00537 NCBI chr 1:220,020,480...220,063,658
Ensembl chr 1:225,401,544...225,444,984
JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00537 NCBI chr 9:98,987,348...98,997,252
Ensembl chr 9:127,657,338...127,678,245
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00537 NCBI chr 1:87,858,602...87,881,348
Ensembl chr 1:122,912,417...122,934,476
JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00537 NCBI chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504
JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00537 NCBI chr10:84,473,087...84,544,902
Ensembl chr10:87,981,974...88,048,228
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00537 NCBI chr2B:102,574,700...102,612,492
Ensembl chr2B:221,159,439...221,197,360
JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00537 NCBI chr2A:74,000,969...74,032,993
Ensembl chr2A:75,510,768...75,542,563
JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00537 NCBI chr14:54,522,428...54,578,501
Ensembl chr14:73,376,684...73,410,468
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00537 NCBI chr 9:108,503,511...108,511,822
Ensembl chr 9:137,468,154...137,472,092
JBrowse link
G GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00537 NCBI chr21:19,871,656...19,909,893
Ensembl chr21:33,244,457...33,282,331
JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00537 NCBI chr 9:52,559,752...52,662,886
Ensembl chr 9:70,891,319...70,994,574
JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00537 NCBI chr 6:16,094,994...16,151,499
Ensembl chr 6:16,460,651...16,515,796
JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00537 NCBI chr 3:152,925,905...152,999,180
Ensembl chr 3:160,977,222...161,045,214
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00537 NCBI chr11:101,565,279...101,910,136 JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00537 NCBI chr 4:148,124,643...148,173,315
Ensembl chr 4:159,942,017...159,990,511
JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00537 NCBI chr 1:203,541,866...203,550,827
Ensembl chr 1:208,753,657...208,765,857
JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00537 NCBI chr  X:123,609,248...123,650,102
Ensembl chr  X:133,916,681...133,948,197
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00537 NCBI chr 7:120,382,719...120,400,417
Ensembl chr 7:133,036,328...133,053,580
JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00537 NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924
JBrowse link
G LOC100993147 phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00537 NCBI chr 4:67,461,799...67,491,300
Ensembl chr 4:74,031,397...74,059,857
JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00537 NCBI chr 3:48,206,365...48,217,618
Ensembl chr 3:49,290,069...49,299,831
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00537 NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513
JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00537 NCBI chr 9:34,165,452...34,179,722
Ensembl chr 9:34,974,240...34,988,453
JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00537 NCBI chr10:12,177,922...12,206,435
Ensembl chr10:12,158,106...12,176,533
JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00537 NCBI chr 6:163,274,252...163,612,749
Ensembl chr 6:168,265,707...168,645,231
JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00537 NCBI chr 5:53,510,287...55,039,181
Ensembl chr 5:55,749,214...56,670,111
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00537 NCBI chr17:43,389,389...43,409,454
Ensembl chr17:48,121,606...48,141,720
JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00537 NCBI chr14:1,343,921...1,351,670
Ensembl chr14:19,396,114...19,403,907
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00537 NCBI chr 4:67,491,407...67,533,822
Ensembl chr 4:74,059,966...74,102,002
JBrowse link
G PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00537 NCBI chr 7:18,680,579...18,681,655 JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00537 NCBI chr11:3,956,528...3,999,205
Ensembl chr11:4,068,119...4,110,474
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00537 NCBI chr2A:10,119,508...10,128,318
Ensembl chr2A:10,275,598...10,284,640
JBrowse link
G TXN thioredoxin ISO SMPDB SMP:00537 NCBI chr 9:81,399,056...81,411,607
Ensembl chr 9:109,565,557...109,578,311
JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00537 NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4069
    disease pathway 714
      congenital disease pathway 525
        inborn genetic disease pathway 525
          inborn error of metabolism pathway 525
            inborn error of purine-pyrimidine metabolism pathway 110
              adenosine monophosphate deaminase deficiency pathway 37
paths to the root