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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:urolithiasis
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Accession:DOID:0080653 term browser browse the term
Definition:A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract. (DO)
Synonyms:exact_synonym: urinary lithiasis
 primary_id: MESH:D052878
 alt_id: DOID:9001149;   OMIA:001033
 xref: NCI:C114688

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
urolithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aprt adenine phosphoribosyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:7766 PMID:3876264 NCBI chrNW_004624746:805,742...807,963
Ensembl chrNW_004624746:805,758...807,963 		JBrowse link
G Ggcx gamma-glutamyl carboxylase ISO CTD Direct Evidence: marker/mechanism
protein:increased activity:kidney:		 CTD
RGD		 PMID:9471053 RGD:11040514 NCBI chrNW_004624749:17,579,690...17,595,111
Ensembl chrNW_004624749:17,579,661...17,593,150 		JBrowse link
G Plau plasminogen activator, urokinase ISO DNA:snp:3' utr:g.4065C>T (human) RGD PMID:18240004 RGD:7241142 NCBI chrNW_004624754:7,405,637...7,415,870
Ensembl chrNW_004624754:7,408,983...7,416,559 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19002488 PMID:20160351 NCBI chrNW_004624755:26,162,730...26,168,443
Ensembl chrNW_004624755:26,164,795...26,169,365 		JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO Urolithiasis OMIA PMID:15501150 PMID:38133239 NCBI chrNW_004624755:21,165,374...21,328,843
Ensembl chrNW_004624755:21,171,274...21,322,543 		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_004624746:805,742...807,963
Ensembl chrNW_004624746:805,758...807,963 		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_004624746:808,463...813,464
Ensembl chrNW_004624746:809,252...812,993 		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_004624746:786,259...805,450
Ensembl chrNW_004624746:786,422...805,073 		JBrowse link
AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: Azoospermia, obstructive, with nephrolithiasis OMIM
ClinVar		 PMID:31320686 NCBI chrNW_004624803:9,839,916...9,849,891
Ensembl chrNW_004624803:9,839,911...9,846,367 		JBrowse link
bladder calculus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22232670 NCBI chrNW_004624739:12,939,183...12,987,574
Ensembl chrNW_004624739:12,942,165...12,987,973 		JBrowse link
calcium oxalate nephrolithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahsg alpha 2-HS glycoprotein ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chrNW_004624730:70,149,461...70,156,058
Ensembl chrNW_004624730:70,149,850...70,156,039 		JBrowse link
G Ambp alpha-1-microglobulin/bikunin precursor ISO protein:increased expression:urine RGD PMID:15533056 PMID:16622176 RGD:6904147 RGD:6904219 NCBI chrNW_004624760:21,047,576...21,064,698
Ensembl chrNW_004624760:21,047,303...21,068,076 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chrNW_004624885:1,526,625...1,528,235
Ensembl chrNW_004624885:1,527,538...1,528,109 		JBrowse link
G Casr calcium sensing receptor susceptibility ISO associated with Hyperparathyroidism, Primary; DNA:snp:intron:IVS1 G>A rs1501899 (human)
DNA:missense mutations:cds:p.A986S, p.E1011Q (human)
DNA:missense mutation:cds:p.R990G (rs1042636)(human)
DNA:snp:intron:IVS4+11988A>G rs17251221 (human)		 RGD PMID:17018660 PMID:20602573 PMID:21183554 PMID:21966463 RGD:13464331 RGD:7205445 RGD:7205446 RGD:7205447 NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656 		JBrowse link
G Cat catalase ISO RGD PMID:21557843 RGD:7205663 NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739 		JBrowse link
G Cd44 CD44 molecule (IN blood group) ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chrNW_004624767:11,938,452...12,024,970
Ensembl chrNW_004624767:11,938,028...12,025,069 		JBrowse link
G F2 coagulation factor II, thrombin ISO mRNA:decreased expression:kidney RGD PMID:16981243 RGD:6893592 NCBI chrNW_004624767:1,876,974...1,887,720
Ensembl chrNW_004624767:1,877,024...1,887,958 		JBrowse link
G Fn1 fibronectin 1 ISO DNA:polymorphism: :
protein:increased expression:kidney		 RGD PMID:11025758 PMID:19616291 RGD:7206842 RGD:7206846 NCBI chrNW_004624765:707,872...775,056
Ensembl chrNW_004624765:707,755...775,056 		JBrowse link
G Hao1 hydroxyacid oxidase 1 ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chrNW_004624741:8,762,556...8,824,517
Ensembl chrNW_004624741:8,763,496...8,824,468 		JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:25741868 PMID:27125215 PMID:27210743 PMID:27238910 PMID:27939258 More... NCBI chrNW_004624755:26,151,302...26,169,324
Ensembl chrNW_004624755:26,154,186...26,169,365 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human) RGD PMID:17258699 RGD:6907128 NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890 		JBrowse link
G Paqr6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chrNW_004624885:1,528,549...1,532,010
Ensembl chrNW_004624885:1,528,655...1,532,000 		JBrowse link
G Pth parathyroid hormone ISO protein:decreased expression:serum (human) RGD PMID:23470222 RGD:7242417 NCBI chrNW_004624766:5,489,857...5,492,777
Ensembl chrNW_004624766:5,489,800...5,492,871 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:25741868 PMID:27125215 PMID:27210743 PMID:27238910 PMID:27939258 More... NCBI chrNW_004624755:26,162,730...26,168,443
Ensembl chrNW_004624755:26,164,795...26,169,365 		JBrowse link
Calcium Oxalate Nephrolithiasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: NEPHROLITHIASIS, CALCIUM OXALATE, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624755:26,151,302...26,169,324
Ensembl chrNW_004624755:26,154,186...26,169,365 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: NEPHROLITHIASIS, CALCIUM OXALATE, 1 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004624755:26,162,730...26,168,443
Ensembl chrNW_004624755:26,164,795...26,169,365 		JBrowse link
Calcium Oxalate Nephrolithiasis 2 with Nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oxgr1 oxoglutarate receptor 1 ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis OMIM
ClinVar		 PMID:36571463 NCBI chrNW_004624879:3,540,737...3,548,239
Ensembl chrNW_004624879:3,540,845...3,548,239 		JBrowse link
cystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpf centromere protein F ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:25741868 NCBI chrNW_004624771:19,657,489...19,702,506
Ensembl chrNW_004624771:19,656,981...19,702,625 		JBrowse link
G Cep89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chrNW_004624794:7,706,043...7,862,504
Ensembl chrNW_004624794:7,812,364...7,862,340
Ensembl chrNW_004624794:7,812,364...7,862,340 		JBrowse link
G Prepl prolyl endopeptidase like ISO ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I ClinVar PMID:7573036 PMID:8054986 PMID:8792820 PMID:9648062 PMID:9768685 More... NCBI chrNW_004624738:25,802,156...25,835,663
Ensembl chrNW_004624738:25,802,793...25,834,762 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 susceptibility ISO DNA:missense mutations
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I		 OMIM
RGD
ClinVar		 PMID:7539209 PMID:7573036 PMID:8054986 PMID:8731106 PMID:8792820 More... RGD:1600015 NCBI chrNW_004624738:25,762,064...25,802,407
Ensembl chrNW_004624738:25,768,573...25,802,716 		JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: SLC7A9-related condition OMIM
ClinVar		 PMID:6031738 PMID:9536098 PMID:10471498 PMID:11013083 PMID:11157794 More... NCBI chrNW_004624794:7,761,511...7,792,473 JBrowse link
Dent disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Dent disease | ClinVar Annotator: match by term: Dent's disease ClinVar PMID:11136179 PMID:15719255 PMID:15814539 PMID:15895257 PMID:16822791 More... NCBI chrNW_004624893:1,390,417...1,581,457
Ensembl chrNW_004624893:1,390,344...1,577,110 		JBrowse link
G Ocrl OCRL inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Dent disease ClinVar PMID:15108291 PMID:21031565 PMID:21971085 PMID:27398910 PMID:29300302 NCBI chrNW_004624797:8,731,130...8,792,300
Ensembl chrNW_004624797:8,730,713...8,792,727 		JBrowse link
Dent disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED | ClinVar Annotator: match by term: Nephrolithiasis 2 OMIM
ClinVar		 PMID:7874126 PMID:7915957 PMID:8559248 PMID:8950885 PMID:9062355 More... NCBI chrNW_004624893:1,390,417...1,581,457
Ensembl chrNW_004624893:1,390,344...1,577,110 		JBrowse link
Dent disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inpp5b inositol polyphosphate-5-phosphatase B ISO ClinVar Annotator: match by term: Dent disease type 2 ClinVar PMID:28018608 NCBI chrNW_004624764:20,558,145...20,610,126
Ensembl chrNW_004624764:20,559,009...20,609,341 		JBrowse link
G Ocrl OCRL inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Dent disease type 2 OMIM
ClinVar		 PMID:1321346 PMID:8504307 PMID:15627218 PMID:16381338 PMID:17162149 More... NCBI chrNW_004624797:8,731,130...8,792,300
Ensembl chrNW_004624797:8,730,713...8,792,727 		JBrowse link
Glycinuria with or without Oxalate Urolithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc36a1 solute carrier family 36 member 1 ISO ClinVar Annotator: match by term: Hyperglycinuria ClinVar PMID:19033659 NCBI chrNW_004624733:37,490,193...37,570,066
Ensembl chrNW_004624733:37,528,901...37,570,113 		JBrowse link
G Slc36a2 solute carrier family 36 member 2 ISO ClinVar Annotator: match by term: Hyperglycinuria | ClinVar Annotator: match by term: IMINOGLYCINURIA TYPE II OMIM
ClinVar		 PMID:19033659 PMID:25741868 PMID:28492532 NCBI chrNW_004624733:41,201,065...41,229,876
Ensembl chrNW_004624733:41,201,100...41,228,600 		JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Hyperglycinuria | ClinVar Annotator: match by term: IMINOGLYCINURIA TYPE II ClinVar PMID:9536098 PMID:15286787 PMID:15286788 PMID:16199547 PMID:17555458 More... NCBI chrNW_004624751:591,846...606,362
Ensembl chrNW_004624751:591,754...607,693 		JBrowse link
G Slc6a20 solute carrier family 6 member 20 ISO ClinVar Annotator: match by term: Hyperglycinuria | ClinVar Annotator: match by term: IMINOGLYCINURIA TYPE II ClinVar PMID:19033659 PMID:25741868 PMID:28492532 NCBI chrNW_004624730:75,081,189...75,107,288
Ensembl chrNW_004624730:75,084,748...75,109,112 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic ClinVar PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chrNW_004624733:12,666,410...12,683,273
Ensembl chrNW_004624733:12,675,966...12,683,117 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic ClinVar PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chrNW_004624733:12,685,544...12,699,908
Ensembl chrNW_004624733:12,685,546...12,699,901 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 ClinVar PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chrNW_004624733:12,666,410...12,683,273
Ensembl chrNW_004624733:12,675,966...12,683,117 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 OMIM
ClinVar		 PMID:9536098 PMID:12324554 PMID:14672348 PMID:16199547 PMID:16688119 More... NCBI chrNW_004624733:12,685,544...12,699,908
Ensembl chrNW_004624733:12,685,546...12,699,901 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 ClinVar PMID:25741868 PMID:28492532 PMID:31672324 NCBI chrNW_004624760:720,539...725,940
Ensembl chrNW_004624760:720,472...725,551 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nherf1 NHERF family PDZ scaffold protein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2 OMIM
ClinVar		 PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624801:4,612,890...4,630,454
Ensembl chrNW_004624801:4,612,849...4,630,451 		JBrowse link
hypotonia-cystinuria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism
OMIM:606407		 CTD
MouseDO		 PMID:26247364 NCBI chrNW_004624738:25,835,123...26,251,254
Ensembl chrNW_004624738:25,835,163...26,250,729 		JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chrNW_004624738:25,657,084...25,738,913
Ensembl chrNW_004624738:25,656,755...25,723,236 		JBrowse link
G Prepl prolyl endopeptidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chrNW_004624738:25,802,156...25,835,663
Ensembl chrNW_004624738:25,802,793...25,834,762 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chrNW_004624738:25,762,064...25,802,407
Ensembl chrNW_004624738:25,768,573...25,802,716 		JBrowse link
Kidney Calculi term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO RGD PMID:12674322 RGD:7207412 NCBI chrNW_004624885:1,526,625...1,528,235
Ensembl chrNW_004624885:1,527,538...1,528,109 		JBrowse link
G Ca2 carbonic anhydrase 2 ISO RGD PMID:10977795 RGD:1600710 NCBI chrNW_004624744:6,168,030...6,183,407
Ensembl chrNW_004624744:6,167,606...6,183,538 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739 		JBrowse link
G Cd44 CD44 molecule (IN blood group) ISO RGD PMID:16850024 RGD:2289370 NCBI chrNW_004624767:11,938,452...12,024,970
Ensembl chrNW_004624767:11,938,028...12,025,069 		JBrowse link
G Cldn14 claudin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19561606 NCBI chrNW_004624745:27,058,441...27,074,288
Ensembl chrNW_004624745:27,058,911...27,074,282 		JBrowse link
G F2 coagulation factor II, thrombin susceptibility ISO DNA:haplotypes: : RGD PMID:21067798 RGD:6893526 NCBI chrNW_004624767:1,876,974...1,887,720
Ensembl chrNW_004624767:1,877,024...1,887,958 		JBrowse link
G Ifng interferon gamma ISO associated with type 2 diabetes mellitus; mRNA:increased expression:kidney RGD PMID:21514417 RGD:6893463 NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534 		JBrowse link
G Mgp matrix Gla protein ISO RGD PMID:10460895 RGD:1582511 NCBI chrNW_004624752:23,146,025...23,149,266
Ensembl chrNW_004624752:23,146,166...23,149,048 		JBrowse link
G Mpo myeloperoxidase ISO protein:increased activity:blood RGD PMID:18022927 RGD:7174700 NCBI chrNW_004624871:121,026...131,433
Ensembl chrNW_004624871:121,026...131,323 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1324751 NCBI chrNW_004624738:7,442,223...7,448,513
Ensembl chrNW_004624738:7,442,292...7,445,020 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:8325891 PMID:10890885 PMID:15954903 PMID:16105024 PMID:21378157 RGD:1581334 RGD:1581372 RGD:6903839 NCBI chrNW_004624872:4,505,796...4,513,247
Ensembl chrNW_004624872:4,505,522...4,513,742 		JBrowse link
G Trpm7 transient receptor potential cation channel subfamily M member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24291744 NCBI chrNW_004624731:9,490,885...9,588,255
Ensembl chrNW_004624731:9,491,157...9,588,346 		JBrowse link
low molecular weight proteinuria with hypercalciuric nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis OMIM
ClinVar		 PMID:7915957 PMID:8559248 PMID:9062355 PMID:9187673 PMID:9734595 More... NCBI chrNW_004624893:1,390,417...1,581,457
Ensembl chrNW_004624893:1,390,344...1,577,110 		JBrowse link
nephrolithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO ClinVar Annotator: match by term: Nephrolithiasis ClinVar PMID:9192270 PMID:10541294 PMID:10960483 PMID:12777626 PMID:15327387 More... NCBI chrNW_004624847:5,066,356...5,073,538
Ensembl chrNW_004624847:5,067,201...5,077,525 		JBrowse link
G Ahsg alpha 2-HS glycoprotein ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chrNW_004624730:70,149,461...70,156,058
Ensembl chrNW_004624730:70,149,850...70,156,039 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chrNW_004624885:1,526,625...1,528,235
Ensembl chrNW_004624885:1,527,538...1,528,109 		JBrowse link
G Casr calcium sensing receptor ISO DNA:snps, haplotypes:multiple (human) RGD PMID:20067903 RGD:7205448 NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656 		JBrowse link
G Cd44 CD44 molecule (IN blood group) ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chrNW_004624767:11,938,452...12,024,970
Ensembl chrNW_004624767:11,938,028...12,025,069 		JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:16670437 RGD:7257558 NCBI chrNW_004624780:13,440,269...13,497,435
Ensembl chrNW_004624780:13,440,235...13,496,535 		JBrowse link
G Hao1 hydroxyacid oxidase 1 ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chrNW_004624741:8,762,556...8,824,517
Ensembl chrNW_004624741:8,763,496...8,824,468 		JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Calcium oxalate urolithiasis | ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:25741868 PMID:27125215 PMID:27210743 PMID:27238910 PMID:27939258 More... NCBI chrNW_004624755:26,151,302...26,169,324
Ensembl chrNW_004624755:26,154,186...26,169,365 		JBrowse link
G LOC101716773 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chrNW_004624790:2,183,079...2,200,219
Ensembl chrNW_004624790:2,182,598...2,200,425 		JBrowse link
G Nherf1 NHERF family PDZ scaffold protein 1 ISO ClinVar Annotator: match by term: Nephrolithiasis ClinVar PMID:18784102 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28893421 NCBI chrNW_004624801:4,612,890...4,630,454
Ensembl chrNW_004624801:4,612,849...4,630,451 		JBrowse link
G Paqr6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chrNW_004624885:1,528,549...1,532,010
Ensembl chrNW_004624885:1,528,655...1,532,000 		JBrowse link
G Rgs14 regulator of G protein signaling 14 ISO DNA:SNP: :rs11746443 (human) RGD PMID:22396660 RGD:7242927 NCBI chrNW_004624733:12,705,392...12,722,919
Ensembl chrNW_004624733:12,707,825...12,723,279 		JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Nephrolithiasis ClinVar NCBI chrNW_004624760:7,516,910...7,550,897
Ensembl chrNW_004624760:7,515,764...7,550,810 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Calcium oxalate urolithiasis | ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:25741868 PMID:27125215 PMID:27210743 PMID:27238910 PMID:27939258 More... NCBI chrNW_004624755:26,162,730...26,168,443
Ensembl chrNW_004624755:26,164,795...26,169,365 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 onset ISO associated with Hyperoxaluria
ClinVar Annotator: match by term: Nephrolithiasis		 RGD
ClinVar		 PMID:16199547 PMID:18337544 PMID:25741868 PMID:26047794 PMID:28492532 More... RGD:7243005 NCBI chrNW_004624733:12,685,544...12,699,908
Ensembl chrNW_004624733:12,685,546...12,699,901 		JBrowse link
G Tgfb1 transforming growth factor beta 1 treatment ISO RGD PMID:24712822 RGD:11073675 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
prostate calculus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltf lactotransferrin ISO RGD PMID:19202053 RGD:7243107 NCBI chrNW_004624730:74,636,554...74,656,817
Ensembl chrNW_004624730:74,636,522...74,656,886 		JBrowse link
Renal Hypouricemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc22a12 solute carrier family 22 member 12 ISO ClinVar Annotator: match by term: Dalmatian hypouricemia | ClinVar Annotator: match by term: Renal hypouricemia OMIM
ClinVar		 PMID:12024214 PMID:14655203 PMID:14694169 PMID:15054642 PMID:15327384 More... NCBI chrNW_004624767:21,771,137...21,780,305
Ensembl chrNW_004624767:21,772,744...21,779,230 		JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO ClinVar Annotator: match by term: Dalmatian hypouricemia ClinVar NCBI chrNW_004624755:21,165,374...21,328,843
Ensembl chrNW_004624755:21,171,274...21,322,543 		JBrowse link
Ureteral Calculi term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739 		JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chrNW_004624780:13,440,269...13,497,435
Ensembl chrNW_004624780:13,440,235...13,496,535 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958 		JBrowse link
Urinary Calculi term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add3 adducin 3 ISO RGD PMID:15329129 RGD:2317717 NCBI chrNW_004624737:36,091,671...36,256,398 JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:22494008 RGD:6893519 NCBI chrNW_004624767:1,876,974...1,887,720
Ensembl chrNW_004624767:1,877,024...1,887,958 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats, haplotype:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 IL1RN*3 (human) RGD PMID:18186699 RGD:6907399 NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890 		JBrowse link
G Spp1 secreted phosphoprotein 1 no_association ISO DNA:polymorphism: :p.N9171S (human)
DNA:polymorphism: :p.R9402H (human)		 RGD PMID:16145474 RGD:1581368 NCBI chrNW_004624872:4,505,796...4,513,247
Ensembl chrNW_004624872:4,505,522...4,513,742 		JBrowse link
X-linked nephrolithiasis type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1 | ClinVar Annotator: match by term: X-linked recessive nephrolithiasis with renal failure OMIM
ClinVar		 PMID:7915957 PMID:8559248 PMID:9187673 PMID:9602200 PMID:9734595 More... NCBI chrNW_004624893:1,390,417...1,581,457
Ensembl chrNW_004624893:1,390,344...1,577,110 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14179
    disease of anatomical entity 13852
      Urogenital Diseases 4404
        urinary system disease 2200
          urolithiasis 59
            Glycinuria with or without Oxalate Urolithiasis 4
            Urinary Calculi + 20
            adenine phosphoribosyltransferase deficiency 3
            cystinuria + 7
            nephrolithiasis + 38
            ureterolithiasis + 3
            uric acid urolithiasis 0
paths to the root