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:purine-pyrimidine metabolic disorder
go back to main search page
Accession:DOID:653 term browser browse the term
Definition:An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. (DO)
Synonyms:exact_synonym: inborn errors of purine-pyrimidine metabolism;   purine-pyrimidine metabolism, inborn errors
 primary_id: MESH:D011686
 xref: ICD10CM:E79.8;   ICD9CM:277.2
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
purine-pyrimidine metabolic disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase susceptibility ISO DNA:frameshift,point mutation:A1277G;AICA-RIBOSIDURIA,OMIM:608688 RGD PMID:15114530 RGD:1599355 NCBI chrNW_004955457:704,213...729,702
Ensembl chrNW_004955457:704,213...730,134 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:3335642 PMID:15571261 NCBI chrNW_004955435:2,007,185...2,800,907
Ensembl chrNW_004955435:2,007,185...2,766,138 		JBrowse link
G Dpys dihydropyrimidinase ISO dihydropyrimidinuria RGD PMID:9718352 RGD:1599001 NCBI chrNW_004955417:28,183,771...28,244,309
Ensembl chrNW_004955417:28,185,407...28,244,307 		JBrowse link
G Pnp purine nucleoside phosphorylase ISO nucleoside phosphorylase deficiency, OMIM:164050 RGD PMID:3029074 RGD:1600263 NCBI chrNW_004955550:1,290,816...1,299,553
Ensembl chrNW_004955550:1,290,244...1,298,068 		JBrowse link
G Umps uridine monophosphate synthetase ISO orotic aciduria RGD PMID:9042911 RGD:1599702 NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152 		JBrowse link
5 Alpha Fluorouracil Toxicity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:missense mutation:CDS:p.R399Q (human) RGD PMID:23604281 RGD:150530625 NCBI chrNW_004955555:1,293,416...1,315,839
Ensembl chrNW_004955555:1,293,416...1,315,839 		JBrowse link
adenine phosphoribosyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aprt adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency OMIM
ClinVar		 PMID:1353080 PMID:1673292 PMID:1781410 PMID:1985452 PMID:2135300 More... NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955541:2,683,030...2,687,883
Ensembl chrNW_004955541:2,683,408...2,687,102 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955541:2,691,103...2,711,137
Ensembl chrNW_004955541:2,691,103...2,710,696 		JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		 OMIM
ClinVar		 PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488 		JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 NCBI chrNW_004955412:19,486,066...19,496,474
Ensembl chrNW_004955412:19,486,284...19,494,922 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:14722525 PMID:16199547 PMID:18060736 PMID:19776401 PMID:24033266 More... NCBI chrNW_004955434:4,849,147...5,050,545
Ensembl chrNW_004955434:4,867,016...5,049,118 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 More... NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		 ClinVar PMID:8810255 PMID:9630231 PMID:10635319 PMID:10891452 PMID:11121059 More... NCBI chrNW_004955422:9,891,878...9,928,569
Ensembl chrNW_004955422:9,891,878...9,919,504 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:11782540 PMID:16818505 PMID:17606709 PMID:20407015 PMID:21343334 More... NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928 		JBrowse link
Adenosine Monophosphate Deaminase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd1 adenosine monophosphate deaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1631143 PMID:10996775 PMID:11102975 NCBI chrNW_004955435:17,962,487...17,991,625
Ensembl chrNW_004955435:17,962,514...17,991,556 		JBrowse link
adenylosuccinase lyase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,027,341...27,065,227
Ensembl chrNW_004955413:27,027,341...27,065,227 		JBrowse link
G Adsl adenylosuccinate lyase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency OMIM
ClinVar		 PMID:1302001 PMID:1405483 PMID:3234432 PMID:6150139 PMID:7334371 More... NCBI chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527 		JBrowse link
G Ankrd54 ankyrin repeat domain 54 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,203,653...24,216,702
Ensembl chrNW_004955413:24,203,653...24,216,851 		JBrowse link
G Atf4 activating transcription factor 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:25,406,589...25,408,727
Ensembl chrNW_004955413:25,406,589...25,412,218 		JBrowse link
G Baiap2l2 BAR/IMD domain containing adaptor protein 2 like 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,406,856...24,430,779 JBrowse link
G C1qtnf6 C1q and TNF related 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,661,788...23,669,793 JBrowse link
G Cacna1i calcium voltage-gated channel subunit alpha1 I ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:25,440,533...25,538,367
Ensembl chrNW_004955413:25,453,703...25,535,530 		JBrowse link
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,136,369...23,248,231
Ensembl chrNW_004955413:23,132,896...23,248,231 		JBrowse link
G Card10 caspase recruitment domain family member 10 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,920,929...23,946,109
Ensembl chrNW_004955413:23,920,405...23,946,135 		JBrowse link
G Cbx6 chromobox 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,955,721...24,966,015
Ensembl chrNW_004955413:24,955,721...24,966,973 		JBrowse link
G Cbx7 chromobox 7 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:25,079,627...25,100,039
Ensembl chrNW_004955413:25,086,186...25,100,039 		JBrowse link
G Cby1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,781,102...24,794,537
Ensembl chrNW_004955413:24,781,102...24,794,537 		JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,248,879...27,265,635
Ensembl chrNW_004955413:27,249,272...27,265,635 		JBrowse link
G Cdc42ep1 CDC42 effector protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,984,691...23,987,753
Ensembl chrNW_004955413:23,984,691...23,987,257 		JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,349,283...27,360,052
Ensembl chrNW_004955413:27,349,283...27,360,052 		JBrowse link
G Chadl chondroadherin like ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:26,846,714...26,862,082
Ensembl chrNW_004955413:26,851,420...26,862,081 		JBrowse link
G Cimip4 ciliary microtubule inner protein 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,508,531...23,525,964
Ensembl chrNW_004955413:23,508,325...23,525,720 		JBrowse link
G Csdc2 cold shock domain containing C2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,079,280...27,090,082
Ensembl chrNW_004955413:27,079,280...27,090,082 		JBrowse link
G Csf2rb colony stimulating factor 2 receptor subunit beta ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,442,417...23,465,093
Ensembl chrNW_004955413:23,449,111...23,463,820 		JBrowse link
G Csnk1e casein kinase 1 epsilon ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,560,889...24,591,669
Ensembl chrNW_004955413:24,560,900...24,591,669 		JBrowse link
G CUNH22orf23 chromosome unknown C22orf23 homolog ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,291,712...24,300,294 JBrowse link
G Cyth4 cytohesin 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,745,797...23,774,397
Ensembl chrNW_004955413:23,745,777...23,768,387 		JBrowse link
G Ddx17 DEAD-box helicase 17 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,646,317...24,664,614
Ensembl chrNW_004955413:24,646,320...24,664,614 		JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,115,130...27,135,625
Ensembl chrNW_004955413:27,112,974...27,135,625 		JBrowse link
G Dmc1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,685,311...24,724,269
Ensembl chrNW_004955413:24,684,073...24,724,344 		JBrowse link
G Dnajb7 DnaJ heat shock protein family (Hsp40) member B7 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:26,510,844...26,512,855
Ensembl chrNW_004955413:26,511,834...26,512,849 		JBrowse link
G Dnal4 dynein axonemal light chain 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,897,329...24,908,484
Ensembl chrNW_004955413:24,896,680...24,908,602 		JBrowse link
G Eif3d eukaryotic translation initiation factor 3 subunit D ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,096,440...23,110,312
Ensembl chrNW_004955413:23,092,749...23,110,312 		JBrowse link
G Eif3l eukaryotic translation initiation factor 3 subunit L ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,220,188...24,250,786
Ensembl chrNW_004955413:24,220,188...24,254,176 		JBrowse link
G Elfn2 extracellular leucine rich repeat and fibronectin type III domain containing 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,805,494...23,862,067
Ensembl chrNW_004955413:23,805,494...23,862,067 		JBrowse link
G Enthd1 ENTH domain containing 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:25,580,200...25,684,390
Ensembl chrNW_004955413:25,579,604...25,684,410 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933 		JBrowse link
G Fam227a family with sequence similarity 227 member A ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,732,478...24,780,909 JBrowse link
G Fam83f family with sequence similarity 83 member F ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:25,775,107...25,807,592
Ensembl chrNW_004955413:25,775,107...25,807,625 		JBrowse link
G Foxred2 FAD dependent oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,070,715...23,091,402
Ensembl chrNW_004955413:23,068,642...23,091,396 		JBrowse link
G Galr3 galanin receptor 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,195,817...24,198,010 JBrowse link
G Gcat glycine C-acetyltransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,184,997...24,192,178
Ensembl chrNW_004955413:24,184,997...24,192,229 		JBrowse link
G Gga1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,018,595...24,037,887
Ensembl chrNW_004955413:24,018,595...24,037,887 		JBrowse link
G Grap2 GRB2 related adaptor protein 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:25,691,824...25,758,461
Ensembl chrNW_004955413:25,691,439...25,758,813 		JBrowse link
G Gtpbp1 GTP binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,823,113...24,849,522
Ensembl chrNW_004955413:24,823,113...24,852,691 		JBrowse link
G Hmox1 heme oxygenase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979 		JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,295,549...23,310,824
Ensembl chrNW_004955413:23,295,185...23,310,802 		JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,623,567...23,640,245
Ensembl chrNW_004955413:23,623,154...23,640,259 		JBrowse link
G Josd1 Josephin domain containing 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,803,189...24,817,150
Ensembl chrNW_004955413:24,803,189...24,817,174 		JBrowse link
G Kcnj4 potassium inwardly rectifying channel subfamily J member 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,605,887...24,634,524
Ensembl chrNW_004955413:24,605,887...24,634,524 		JBrowse link
G Kctd17 potassium channel tetramerization domain containing 17 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,568,540...23,578,292
Ensembl chrNW_004955413:23,567,865...23,578,292 		JBrowse link
G Kdelr3 KDEL endoplasmic reticulum protein retention receptor 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,638,551...24,648,723
Ensembl chrNW_004955413:24,638,518...24,648,723 		JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:26,831,065...26,847,638
Ensembl chrNW_004955413:26,831,066...26,851,859 		JBrowse link
G Lgals1 galectin 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,072,086...24,075,452
Ensembl chrNW_004955413:24,072,086...24,075,452 		JBrowse link
G Lgals2 galectin 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,988,193...24,001,868
Ensembl chrNW_004955413:23,988,193...23,989,703 		JBrowse link
G LOC102010789 histone H1.0 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,182,547...24,184,588 JBrowse link
G Maff MAF bZIP transcription factor F ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,494,326...24,504,728 JBrowse link
G Mb myoglobin ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955405:43,215,404...43,221,606
Ensembl chrNW_004955405:43,215,007...43,222,052 		JBrowse link
G Mchr1 melanin concentrating hormone receptor 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:26,343,771...26,347,374
Ensembl chrNW_004955413:26,343,759...26,347,520 		JBrowse link
G Mcm5 minichromosome maintenance complex component 5 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955405:43,132,815...43,145,699
Ensembl chrNW_004955405:43,132,204...43,145,699 		JBrowse link
G Mei1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,188,013...27,247,608 JBrowse link
G Mfng MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,901,987...23,917,720
Ensembl chrNW_004955413:23,902,707...23,917,542 		JBrowse link
G Mgat3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:25,346,135...25,367,782
Ensembl chrNW_004955413:25,360,806...25,367,782 		JBrowse link
G Micall1 MICAL like 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,264,726...24,290,578
Ensembl chrNW_004955413:24,264,726...24,289,434 		JBrowse link
G Mief1 mitochondrial elongation factor 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:25,387,399...25,401,484
Ensembl chrNW_004955413:25,387,399...25,401,484 		JBrowse link
G Mpst mercaptopyruvate sulfurtransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,538,648...23,543,132
Ensembl chrNW_004955413:23,538,648...23,547,120 		JBrowse link
G Mrtfa myocardin related transcription factor A ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:26,139,060...26,311,272
Ensembl chrNW_004955413:26,139,843...26,222,580 		JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450 		JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,463,931...27,472,273
Ensembl chrNW_004955413:27,461,998...27,472,273 		JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,388,456...23,405,121
Ensembl chrNW_004955413:23,388,018...23,408,090 		JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,485,678...27,491,757
Ensembl chrNW_004955413:27,485,678...27,491,757 		JBrowse link
G Nol12 nucleolar protein 12 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,079,183...24,085,008
Ensembl chrNW_004955413:24,078,349...24,086,210 		JBrowse link
G Nptxr neuronal pentraxin receptor ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,924,464...24,941,417
Ensembl chrNW_004955413:24,925,784...24,942,292 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987 		JBrowse link
G Pdxp pyridoxal phosphatase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,055,900...24,063,902 JBrowse link
G Pheta2 PH domain containing endocytic trafficking adaptor 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,475,658...27,480,879
Ensembl chrNW_004955413:27,475,658...27,480,879 		JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,018,730...27,026,937 JBrowse link
G Pick1 protein interacting with PRKCA 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,383,130...24,399,092
Ensembl chrNW_004955413:24,383,130...24,399,196 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,431,592...24,482,229
Ensembl chrNW_004955413:24,429,589...24,482,537 		JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,090,291...27,097,088
Ensembl chrNW_004955413:27,090,291...27,097,088 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,300,340...24,309,798
Ensembl chrNW_004955413:24,300,340...24,311,166 		JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,065,785...27,072,432
Ensembl chrNW_004955413:27,065,785...27,072,432 		JBrowse link
G Pvalb parvalbumin ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,329,467...23,345,487
Ensembl chrNW_004955413:23,329,467...23,345,487 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,697,504...23,710,668
Ensembl chrNW_004955413:23,693,669...23,710,704 		JBrowse link
G Rangap1 Ran GTPase activating protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:26,869,487...26,894,192
Ensembl chrNW_004955413:26,867,812...26,890,284 		JBrowse link
G Rasd2 RASD family member 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955405:43,191,530...43,196,057
Ensembl chrNW_004955405:43,191,480...43,196,085 		JBrowse link
G Rbfox2 RNA binding fox-1 homolog 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:22,034,048...22,288,430
Ensembl chrNW_004955413:22,035,837...22,287,763 		JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:26,579,759...26,592,980
Ensembl chrNW_004955413:26,579,759...26,592,980 		JBrowse link
G Rpl3 ribosomal protein L3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:25,217,777...25,224,052
Ensembl chrNW_004955413:25,217,777...25,224,052 		JBrowse link
G Rps19bp1 ribosomal protein S19 binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:25,412,621...25,415,924
Ensembl chrNW_004955413:25,412,341...25,416,086 		JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,381,103...27,400,899 JBrowse link
G Sgsm3 small G protein signaling modulator 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:26,094,170...26,139,062
Ensembl chrNW_004955413:26,094,146...26,142,219 		JBrowse link
G Sh3bp1 SH3 domain binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,042,875...24,054,826
Ensembl chrNW_004955413:24,042,875...24,055,041 		JBrowse link
G Shisa8 shisa family member 8 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,328,632...27,330,304 JBrowse link
G Slc16a8 solute carrier family 16 member 8 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,400,621...24,406,754
Ensembl chrNW_004955413:24,400,826...24,405,208 		JBrowse link
G Slc25a17 solute carrier family 25 member 17 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:26,423,805...26,474,158
Ensembl chrNW_004955413:26,421,834...26,474,199 		JBrowse link
G Smdt1 single-pass membrane protein with aspartate rich tail 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,480,938...27,485,729
Ensembl chrNW_004955413:27,480,938...27,485,729 		JBrowse link
G Snu13 small nuclear ribonucleoprotein 13 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,160,985...27,172,648
Ensembl chrNW_004955413:27,159,816...27,172,696 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,313,311...24,323,112
Ensembl chrNW_004955413:24,311,783...24,323,315 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,271,717...27,326,655
Ensembl chrNW_004955413:27,271,953...27,326,759 		JBrowse link
G Sstr3 somatostatin receptor 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,677,693...23,683,939
Ensembl chrNW_004955413:23,677,693...23,683,939 		JBrowse link
G St13 ST13 Hsp70 interacting protein ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:26,478,579...26,507,671
Ensembl chrNW_004955413:26,476,469...26,507,671 		JBrowse link
G Sun2 Sad1 and UNC84 domain containing 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,851,626...24,868,352
Ensembl chrNW_004955413:24,851,626...24,865,575 		JBrowse link
G Syngr1 synaptogyrin 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:25,244,679...25,269,725
Ensembl chrNW_004955413:25,244,647...25,269,725 		JBrowse link
G Tab1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:25,290,733...25,315,267
Ensembl chrNW_004955413:25,290,828...25,313,969 		JBrowse link
G Tef TEF transcription factor, PAR bZIP family member ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:26,956,285...26,978,734
Ensembl chrNW_004955413:26,956,285...26,979,045 		JBrowse link
G Tmem184b transmembrane protein 184B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,506,026...24,534,054
Ensembl chrNW_004955413:24,506,026...24,534,053 		JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,579,946...23,615,277
Ensembl chrNW_004955413:23,580,530...23,612,276 		JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,341,977...27,344,009 JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:25,820,428...26,060,681
Ensembl chrNW_004955413:25,886,077...26,048,546 		JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:26,999,955...27,010,091
Ensembl chrNW_004955413:26,999,955...27,010,156 		JBrowse link
G Tomm22 translocase of outer mitochondrial membrane 22 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:24,799,735...24,801,820 JBrowse link
G Tst thiosulfate sulfurtransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,528,468...23,534,890
Ensembl chrNW_004955413:23,528,417...23,534,979 		JBrowse link
G Txn2 thioredoxin 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:23,044,866...23,056,017
Ensembl chrNW_004955413:23,041,559...23,056,018 		JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,402,614...27,442,106
Ensembl chrNW_004955413:27,402,545...27,436,906 		JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:26,507,860...26,564,105
Ensembl chrNW_004955413:26,507,860...26,566,826 		JBrowse link
G Xrcc6 X-ray repair cross complementing 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:27,135,785...27,158,344
Ensembl chrNW_004955413:27,135,805...27,159,750 		JBrowse link
G Zc3h7b zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:26,907,883...26,951,352
Ensembl chrNW_004955413:26,925,943...26,951,040 		JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Umod uromodulin ISO ClinVar Annotator: match by term: Glomerulocystic kidney disease with hyperuricemia and isosthenuria | ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 | ClinVar Annotator: match by term: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: UMOD-related condition | ClinVar Annotator: match by term: Uromodulin-associated kidney disease OMIM
ClinVar		 PMID:7396593 PMID:9536098 PMID:10330352 PMID:12205338 PMID:12471200 More... NCBI chrNW_004955442:3,986,936...4,001,155
Ensembl chrNW_004955442:3,985,308...3,999,598 		JBrowse link
Beta-Ureidopropionase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Upb1 beta-ureidopropionase 1 ISO ClinVar Annotator: match by term: Beta-ureidopropionase deficiency OMIM
ClinVar		 PMID:11783491 PMID:15385443 PMID:16199547 PMID:17065070 PMID:17964839 More... NCBI chrNW_004955455:7,961,296...7,992,235
Ensembl chrNW_004955455:7,961,264...7,995,946 		JBrowse link
dihydropyrimidine dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: 5-fluorouracil toxicity | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar Annotator: match by term: Hereditary Thymine-Uraciluria | ClinVar Annotator: match by term: Pyrimidinemia familial OMIM
ClinVar		 PMID:1648430 PMID:2464834 PMID:7832988 PMID:8051923 PMID:8698850 More... NCBI chrNW_004955435:2,007,185...2,800,907
Ensembl chrNW_004955435:2,007,185...2,766,138 		JBrowse link
gout term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A1cf APOBEC1 complementation factor ISO DNA:SNP: :rs10821905 (human) RGD PMID:28252667 PMID:28679452 RGD:13831119 RGD:13831120 NCBI chrNW_004955425:5,992,538...6,077,769
Ensembl chrNW_004955425:5,992,538...6,077,770 		JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) susceptibility ISO ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 1
DNA:SNP:exon:rs2231142(human) 		OMIM
ClinVar
RGD		 PMID:16702730 PMID:16784736 PMID:18834626 PMID:19474787 PMID:19506252 More... RGD:13439747 NCBI chrNW_004955474:12,365,903...12,408,715 JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:21285172 RGD:5684422 NCBI chrNW_004955463:13,663,064...13,665,553 JBrowse link
G Aldh16a1 aldehyde dehydrogenase 16 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983786 NCBI chrNW_004955559:1,376,862...1,390,861
Ensembl chrNW_004955559:1,376,977...1,390,841 		JBrowse link
G Alpk1 alpha kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27542954 NCBI chrNW_004955457:14,325,278...14,444,368
Ensembl chrNW_004955457:14,325,281...14,379,937 		JBrowse link
G Cd14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Gout ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chrNW_004955406:13,964,087...13,991,691
Ensembl chrNW_004955406:13,964,087...13,991,691 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:18403674 NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471 		JBrowse link
G Il33 interleukin 33 ISO RGD PMID:30863362 RGD:40400717 NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO N113S, D182H RGD PMID:8253776 RGD:1599725 NCBI chrNW_004955490:8,303,775...8,330,713
Ensembl chrNW_004955490:8,303,775...8,330,713 		JBrowse link
G Slc17a3 solute carrier family 17 member 3 ISO ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 4 ClinVar
OMIM		 PMID:20810651 NCBI chrNW_004955483:1,235,122...1,260,161
Ensembl chrNW_004955483:1,234,975...1,260,158 		JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18327256 PMID:18327257 NCBI chrNW_004955514:5,479,585...5,625,328
Ensembl chrNW_004955514:5,479,585...5,625,223 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36850003 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		JBrowse link
Gouty Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp2 matrix metallopeptidase 2 severity ISO RGD PMID:14687896 RGD:8547877 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:14687896 RGD:8547877 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386 		JBrowse link
HRPT-related hyperuricemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh16a1 aldehyde dehydrogenase 16 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348497 NCBI chrNW_004955559:1,376,862...1,390,861
Ensembl chrNW_004955559:1,376,977...1,390,841 		JBrowse link
G Ccdc160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chrNW_004955473:725,822...742,698
Ensembl chrNW_004955473:725,193...736,944 		JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chrNW_004955473:969,627...1,431,706
Ensembl chrNW_004955473:969,800...1,431,483 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: HPRT1-Related Disorders | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency OMIM
ClinVar		 PMID:1301916 PMID:1483694 PMID:1487231 PMID:1551676 PMID:1618489 More... NCBI chrNW_004955473:462,940...510,006 JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chrNW_004955473:527,005...586,589
Ensembl chrNW_004955473:527,005...586,627 		JBrowse link
Lesch-Nyhan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Lesch-Nyhan syndrome OMIM
ClinVar		 PMID:1301916 PMID:1434518 PMID:1551676 PMID:1618489 PMID:1639405 More... NCBI chrNW_004955473:462,940...510,006 JBrowse link
Lesch-Nyhan Syndrome, Neurologic Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant ClinVar PMID:1301916 PMID:2358296 PMID:10737990 PMID:17454734 PMID:20981450 More... NCBI chrNW_004955473:462,940...510,006 JBrowse link
Methylmalonate Semialdehyde Dehydrogenase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency OMIM
ClinVar		 PMID:3117077 PMID:3939535 PMID:10947204 PMID:11446412 PMID:21863277 More... NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073 		JBrowse link
G Bbof1 basal body orientation factor 1 ISO ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency ClinVar PMID:3117077 PMID:3939535 PMID:10947204 PMID:11446412 PMID:21863277 More... NCBI chrNW_004955523:1,363,246...1,405,022 JBrowse link
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: Muscle AMP deaminase deficiency OMIM
ClinVar		 PMID:1631143 PMID:1922051 PMID:8335021 PMID:9536098 PMID:10996775 More... NCBI chrNW_004955435:17,962,487...17,991,625
Ensembl chrNW_004955435:17,962,514...17,991,556 		JBrowse link
orotic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Hereditary orotic aciduria, type 1 | ClinVar Annotator: match by term: Orotic aciduria | ClinVar Annotator: match by term: UMPS-related condition OMIM
ClinVar		 PMID:9042911 PMID:16199547 PMID:25741868 PMID:25757096 PMID:28205048 More... NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152 		JBrowse link
phosphoribosylpyrophosphate synthetase superactivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Phosphoribosylpyrophosphate synthetase superactivity OMIM
ClinVar		 PMID:171280 PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 More... NCBI chrNW_004955490:8,303,775...8,330,713
Ensembl chrNW_004955490:8,303,775...8,330,713 		JBrowse link
Poor Metabolism of Thiopurines, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpmt thiopurine S-methyltransferase ISO ClinVar Annotator: match by term: THIOPURINES, POOR METABOLISM OF, 1 OMIM
ClinVar		 PMID:8561894 PMID:9931345 PMID:25741868 NCBI chrNW_004955483:8,052,867...8,072,235
Ensembl chrNW_004955483:8,052,849...8,072,764 		JBrowse link
Poor Metabolism of Thiopurines, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Thiopurines, poor metabolism of, 2 OMIM
ClinVar		 PMID:22992668 PMID:25108385 PMID:25624441 PMID:25741868 PMID:26033531 More... NCBI chrNW_004955431:1,767,971...1,775,555
Ensembl chrNW_004955431:1,767,525...1,775,555 		JBrowse link
purine nucleoside phosphorylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chrNW_004955550:1,273,170...1,275,843
Ensembl chrNW_004955550:1,273,284...1,279,743 		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 chrNW_004955550:1,837,903...1,854,490
Ensembl chrNW_004955550:1,837,899...1,856,005 		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 chrNW_004955550:2,115,649...2,175,687
Ensembl chrNW_004955550:2,115,649...2,175,181 		JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chrNW_004955550:1,949,975...2,002,297
Ensembl chrNW_004955550:1,949,975...2,002,297 		JBrowse link
G LOC102009550 olfactory receptor 5AU1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chrNW_004955550:1,921,231...1,923,589
Ensembl chrNW_004955550:1,921,231...1,923,223 		JBrowse link
G LOC102026574 olfactory receptor 6S1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chrNW_004955550:1,434,291...1,438,383
Ensembl chrNW_004955550:1,434,291...1,438,383 		JBrowse link
G Mettl17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chrNW_004955550:1,747,234...1,755,136
Ensembl chrNW_004955550:1,747,994...1,756,790 		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 chrNW_004955550:2,211,270...2,227,715
Ensembl chrNW_004955550:2,211,270...2,227,715 		JBrowse link
G Ndrg2 NDRG family member 2 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chrNW_004955550:1,771,514...1,778,693
Ensembl chrNW_004955550:1,767,911...1,780,635 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chrNW_004955550:1,266,191...1,273,093
Ensembl chrNW_004955550:1,265,401...1,273,299 		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 chrNW_004955550:1,275,921...1,279,262
Ensembl chrNW_004955550:1,275,921...1,279,270 		JBrowse link
G Pnp purine nucleoside phosphorylase ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency OMIM
ClinVar		 PMID:1384322 PMID:1560016 PMID:3029074 PMID:8931706 PMID:9067751 More... NCBI chrNW_004955550:1,290,816...1,299,553
Ensembl chrNW_004955550:1,290,244...1,298,068 		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 chrNW_004955550:2,180,326...2,195,523
Ensembl chrNW_004955550:2,180,326...2,195,523 		JBrowse link
G Rnase10 ribonuclease A family member 10 (inactive) ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chrNW_004955550:1,326,203...1,331,558
Ensembl chrNW_004955550:1,328,294...1,331,558 		JBrowse link
G Rnase11 ribonuclease A family member 11 (inactive) ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chrNW_004955550:1,386,452...1,387,057 JBrowse link
G Rnase12 ribonuclease A family member 12 (inactive) ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chrNW_004955550:1,399,335...1,400,310
Ensembl chrNW_004955550:1,399,335...1,400,310 		JBrowse link
G Rnase13 ribonuclease A family member 13 (inactive) ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chrNW_004955550:1,786,550...1,800,191
Ensembl chrNW_004955550:1,786,550...1,800,191 		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 chrNW_004955550:1,687,068...1,688,160 JBrowse link
G Rnase7 ribonuclease A family member 7 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chrNW_004955550:1,796,301...1,797,801 JBrowse link
G Rnase9 ribonuclease A family member 9 (inactive) ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chrNW_004955550:1,371,792...1,372,355 JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chrNW_004955550:2,015,319...2,073,627
Ensembl chrNW_004955550:2,021,838...2,073,498 		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 chrNW_004955550:2,236,129...2,250,829
Ensembl chrNW_004955550:2,237,677...2,250,829 		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 chrNW_004955550:1,762,905...1,765,254
Ensembl chrNW_004955550:1,762,907...1,765,254 		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 chrNW_004955550:2,074,646...2,114,634
Ensembl chrNW_004955550:2,074,941...2,114,528 		JBrowse link
G Tmem253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chrNW_004955550:1,862,781...1,867,230
Ensembl chrNW_004955550:1,862,719...1,866,822 		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 chrNW_004955550:2,195,710...2,209,729
Ensembl chrNW_004955550:2,195,710...2,209,729 		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 chrNW_004955550:1,779,405...1,785,385
Ensembl chrNW_004955550:1,779,375...1,785,575 		JBrowse link
G Znf219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chrNW_004955550:1,854,330...1,861,836 JBrowse link
thiopurine S-methyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpmt thiopurine S-methyltransferase ISO ClinVar Annotator: match by term: Thiopurine methyltransferase deficiency ClinVar PMID:1960624 PMID:7862671 PMID:8561894 PMID:8644731 PMID:9177237 More... NCBI chrNW_004955483:8,052,867...8,072,235
Ensembl chrNW_004955483:8,052,849...8,072,764 		JBrowse link
xanthinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: XDH deficiency ClinVar NCBI chrNW_004955441:12,149...95,733
Ensembl chrNW_004955441:10,443...95,743 		JBrowse link
xanthinuria type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mocos molybdenum cofactor sulfurase ISO ClinVar Annotator: match by term: Xanthinuria type II OMIM
ClinVar		 PMID:9536098 PMID:11302742 PMID:14624414 PMID:16199547 PMID:17368066 More... NCBI chrNW_004955402:22,754,034...22,808,428
Ensembl chrNW_004955402:22,754,064...22,808,167 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Xanthinuria type II ClinVar PMID:18384427 PMID:28492532 NCBI chrNW_004955441:12,149...95,733
Ensembl chrNW_004955441:10,443...95,743 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Nutritional and Metabolic Diseases 6694
      disease of metabolism 6694
        inherited metabolic disorder 5142
          purine-pyrimidine metabolic disorder 185
            Adenosine Monophosphate Deaminase Deficiency + 1
            Beta-Ureidopropionase Deficiency 1
            Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 0
            Lesch-Nyhan syndrome + 1
            Methylmalonate Semialdehyde Dehydrogenase Deficiency 2
            Orotic Aciduria II 0
            Phosphoribosylpyrophosphate Synthetase Deficiency 0
            Pseudouridinuria and Mental Defect 0
            adenine phosphoribosyltransferase deficiency 3
            adenosine deaminase deficiency 6
            adenylosuccinase lyase deficiency 113
            dihydropyrimidine dehydrogenase deficiency + 2
            gout + 22
            orotic aciduria 1
            phosphoribosylpyrophosphate synthetase superactivity 1
            purine nucleoside phosphorylase deficiency 28
            thiopurine S-methyltransferase deficiency + 2
            xanthinuria + 2
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          inherited metabolic disorder 5142
            purine-pyrimidine metabolic disorder 185
              Adenosine Monophosphate Deaminase Deficiency + 1
              Beta-Ureidopropionase Deficiency 1
              Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 0
              Lesch-Nyhan syndrome + 1
              Methylmalonate Semialdehyde Dehydrogenase Deficiency 2
              Orotic Aciduria II 0
              Phosphoribosylpyrophosphate Synthetase Deficiency 0
              Pseudouridinuria and Mental Defect 0
              adenine phosphoribosyltransferase deficiency 3
              adenosine deaminase deficiency 6
              adenylosuccinase lyase deficiency 113
              dihydropyrimidine dehydrogenase deficiency + 2
              gout + 22
              orotic aciduria 1
              phosphoribosylpyrophosphate synthetase superactivity 1
              purine nucleoside phosphorylase deficiency 28
              thiopurine S-methyltransferase deficiency + 2
              xanthinuria + 2
paths to the root