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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


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 chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445 		JBrowse link
G GGCX gamma-glutamyl carboxylase ISO CTD Direct Evidence: marker/mechanism
protein:increased activity:kidney:		 CTD
RGD		 PMID:9471053 RGD:11040514 NCBI chr17:39,512,293...39,525,251
Ensembl chr17:39,512,387...39,529,121 		JBrowse link
G PLAU plasminogen activator, urokinase ISO DNA:snp:3' utr:g.4065C>T (human) RGD PMID:18240004 RGD:7241142 NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851 		JBrowse link
G SLC26A1 solute carrier family 26 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19002488 PMID:20160351 NCBI chr 3:91,528,045...91,534,104
Ensembl chr 3:91,485,270...91,534,115 		JBrowse link
G SLC2A9 solute carrier family 2 member 9 IAGP Urolithiasis OMIA PMID:15501150 PMID:38133239 NCBI chr 3:69,394,304...69,588,462
Ensembl chr 3:69,394,152...69,595,802 		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 chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445 		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 chr 5:64,566,035...64,570,361
Ensembl chr 5:64,566,043...64,570,748 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:64,534,194...64,562,169
Ensembl chr 5:64,534,131...64,562,169 		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 chr  X:80,456,313...80,491,944
Ensembl chr  X:80,483,333...80,530,012 		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 chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444 		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 chr34:19,221,034...19,228,866
Ensembl chr34:19,221,107...19,228,716 		JBrowse link
G AMBP alpha-1-microglobulin/bikunin precursor ISO protein:increased expression:urine RGD PMID:15533056 PMID:16622176 RGD:6904147 RGD:6904219 NCBI chr11:68,338,644...68,353,366
Ensembl chr11:68,338,389...68,351,994 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791 		JBrowse link
G CASR calcium sensing receptor susceptibility ISO DNA:snp:intron:IVS4+11988A>G rs17251221 (human)
associated with Hyperparathyroidism, Primary; DNA:snp:intron:IVS1 G>A rs1501899 (human)
DNA:missense mutation:cds:p.R990G (rs1042636)(human)
DNA:missense mutations:cds:p.A986S, p.E1011Q (human)		 RGD PMID:17018660 PMID:20602573 PMID:21183554 PMID:21966463 RGD:13464331 RGD:7205445 RGD:7205446 RGD:7205447 NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559 		JBrowse link
G CAT catalase ISO RGD PMID:21557843 RGD:7205663 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447 		JBrowse link
G CD44 CD44 molecule ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chr18:32,735,493...32,826,483
Ensembl chr18:32,737,907...32,827,107 		JBrowse link
G F2 coagulation factor II, thrombin ISO mRNA:decreased expression:kidney RGD PMID:16981243 RGD:6893592 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		JBrowse link
G FN1 fibronectin 1 ISO protein:increased expression:kidney
DNA:polymorphism: :		 RGD PMID:11025758 PMID:19616291 RGD:7206842 RGD:7206846 NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123 		JBrowse link
G HAO1 hydroxyacid oxidase 1 ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chr24:14,204,543...14,252,873
Ensembl chr24:14,204,617...14,252,191 		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 chr 3:91,517,225...91,534,593
Ensembl chr 3:91,522,035...91,534,593 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human) RGD PMID:17258699 RGD:6907128 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329 		JBrowse link
G PAQR6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chr 7:41,625,759...41,629,995
Ensembl chr 7:41,628,458...41,629,383 		JBrowse link
G PTH parathyroid hormone ISO protein:decreased expression:serum (human) RGD PMID:23470222 RGD:7242417 NCBI chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967 		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 chr 3:91,528,045...91,534,104
Ensembl chr 3:91,485,270...91,534,115 		JBrowse link
Calcium Oxalate Nephrolithiasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A1 solute carrier family 26 member 1 ISO OMIM NCBI chr 3:91,528,045...91,534,104
Ensembl chr 3:91,485,270...91,534,115 		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 chr22:47,371,020...47,377,389
Ensembl chr22:47,371,381...47,372,394 		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 chr 7:12,558,455...12,618,637
Ensembl chr 7:12,555,143...12,617,996 		JBrowse link
G CEP89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr 1:119,124,042...119,197,394
Ensembl chr 1:119,123,933...119,197,338 		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 chr10:46,733,769...46,792,465
Ensembl chr10:46,726,676...46,792,405 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 susceptibility ISO
IAGP		 DNA:missense mutations
Cystinuria, type II - A
Cystinuria, type I - A
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I		 OMIM
RGD
OMIA
ClinVar		 PMID:7493896 PMID:7539209 PMID:7573036 PMID:8054986 PMID:8334504 More... RGD:1600015 NCBI chr10:46,690,555...46,737,417
Ensembl chr10:46,685,137...46,737,147 		JBrowse link
G SLC7A9 solute carrier family 7 member 9 ISO
IAGP		 Cystinuria, type II - B
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: SLC7A9-related condition		 OMIM
OMIA
ClinVar		 PMID:6031738 PMID:9536098 PMID:10471498 PMID:11013083 PMID:11157794 More... NCBI chr 1:119,205,833...119,229,054
Ensembl chr 1:119,205,833...119,229,054 		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 chr  X:42,705,789...42,860,701
Ensembl chr  X:42,704,627...42,853,812 		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 chr  X:100,760,302...100,817,673
Ensembl chr  X:100,757,373...100,831,500 		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 chr  X:42,705,789...42,860,701
Ensembl chr  X:42,704,627...42,853,812 		JBrowse link
G MIR188 microRNA mir-188 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:42,775,058...42,775,143
Ensembl chr  X:42,775,058...42,775,143 		JBrowse link
G MIR500 microRNA mir-500 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:42,779,872...42,779,930
Ensembl chr  X:42,779,870...42,779,932 		JBrowse link
G MIR502 microRNA mir-502 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:42,785,601...42,785,659
Ensembl chr  X:42,785,587...42,785,666 		JBrowse link
G MIR532 microRNA mir-532 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:42,774,680...42,774,738
Ensembl chr  X:42,774,680...42,774,738 		JBrowse link
G MIR660 microRNA mir-660 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:42,783,965...42,784,023
Ensembl chr  X:42,783,965...42,784,023 		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 chr15:4,627,536...4,678,611
Ensembl chr15:4,628,278...4,678,574 		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 chr  X:100,760,302...100,817,673
Ensembl chr  X:100,757,373...100,831,500 		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 chr 4:57,815,337...57,903,811
Ensembl chr 4:57,837,526...57,904,250 		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 chr 4:57,933,506...57,959,359
Ensembl chr 4:57,933,453...57,992,587 		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 chr34:11,329,126...11,344,248
Ensembl chr34:11,329,111...11,344,293 		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 chr20:42,702,368...42,725,804
Ensembl chr20:42,702,379...42,724,658 		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 chr 4:35,950,642...35,968,137
Ensembl chr 4:35,950,695...35,998,025 		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 chr 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657 		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 chr 4:35,950,642...35,968,137
Ensembl chr 4:35,950,695...35,998,025 		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 chr 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657 		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 chr 9:48,437,893...48,444,103
Ensembl chr 9:48,438,007...48,440,736 		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 chr 9:5,661,792...5,679,783
Ensembl chr 9:5,662,464...5,679,570 		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 chr10:46,792,795...47,185,951
Ensembl chr10:46,792,936...47,185,416 		JBrowse link
G PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr10:46,590,110...46,680,792
Ensembl chr10:46,590,079...46,665,866 		JBrowse link
G PREPL prolyl endopeptidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr10:46,733,769...46,792,465
Ensembl chr10:46,726,676...46,792,405 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr10:46,690,555...46,737,417
Ensembl chr10:46,685,137...46,737,147 		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 chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791 		JBrowse link
G CA2 carbonic anhydrase 2 ISO RGD PMID:10977795 RGD:1600710 NCBI chr29:31,959,225...31,975,309
Ensembl chr29:31,935,172...31,980,579 		JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447 		JBrowse link
G CD44 CD44 molecule ISO RGD PMID:16850024 RGD:2289370 NCBI chr18:32,735,493...32,826,483
Ensembl chr18:32,737,907...32,827,107 		JBrowse link
G CLDN14 claudin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19561606 NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446 		JBrowse link
G F2 coagulation factor II, thrombin susceptibility ISO DNA:haplotypes: : RGD PMID:21067798 RGD:6893526 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182 		JBrowse link
G IFNG interferon gamma ISO associated with type 2 diabetes mellitus; mRNA:increased expression:kidney RGD PMID:21514417 RGD:6893463 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G MGP matrix Gla protein ISO RGD PMID:10460895 RGD:1582511 NCBI chr27:31,735,301...31,738,673
Ensembl chr27:31,734,660...31,738,673 		JBrowse link
G MPO myeloperoxidase ISO protein:increased activity:blood RGD PMID:18022927 RGD:7174700 NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1324751 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:8325891 PMID:10890885 PMID:15954903 PMID:16105024 PMID:21378157 RGD:1581334 RGD:1581372 RGD:6903839 NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069 		JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24291744 NCBI chr30:16,465,546...16,579,874
Ensembl chr30:16,466,234...16,579,594 		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 chr  X:42,705,789...42,860,701
Ensembl chr  X:42,704,627...42,853,812 		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 chr25:50,968,291...50,976,089 JBrowse link
G AHSG alpha 2-HS glycoprotein ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chr34:19,221,034...19,228,866
Ensembl chr34:19,221,107...19,228,716 		JBrowse link
G B9D2 B9 domain containing 2 treatment ISO RGD PMID:24712822 RGD:11073675 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791 		JBrowse link
G CASR calcium sensing receptor ISO DNA:snps, haplotypes:multiple (human) RGD PMID:20067903 RGD:7205448 NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559 		JBrowse link
G CD44 CD44 molecule ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chr18:32,735,493...32,826,483
Ensembl chr18:32,737,907...32,827,107 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216 		JBrowse link
G GSR glutathione-disulfide reductase ISO RGD PMID:16670437 RGD:7257558 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752 		JBrowse link
G HAO1 hydroxyacid oxidase 1 ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chr24:14,204,543...14,252,873
Ensembl chr24:14,204,617...14,252,191 		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 chr 3:91,517,225...91,534,593
Ensembl chr 3:91,522,035...91,534,593 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Nephrolithiasis ClinVar PMID:25741868 NCBI chr MT:8,644...9,427
Ensembl chr MT:8,644...9,427 		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 chr 9:5,661,792...5,679,783
Ensembl chr 9:5,662,464...5,679,570 		JBrowse link
G PAQR6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate ClinVar PMID:24886237 NCBI chr 7:41,625,759...41,629,995
Ensembl chr 7:41,628,458...41,629,383 		JBrowse link
G RGS14 regulator of G protein signaling 14 ISO DNA:SNP: :rs11746443 (human) RGD PMID:22396660 RGD:7242927 NCBI chr 4:35,984,970...35,999,386
Ensembl chr 4:35,985,132...35,999,294 		JBrowse link
G SLC25A25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Nephrolithiasis ClinVar NCBI chr 9:55,358,348...55,394,624
Ensembl chr 9:55,360,043...55,394,519 		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 chr 3:91,528,045...91,534,104
Ensembl chr 3:91,485,270...91,534,115 		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 chr 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657 		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 chr20:42,231,994...42,263,202
Ensembl chr20:42,231,994...42,263,202 		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 chr18:52,541,820...52,550,037
Ensembl chr18:52,542,497...52,549,655 		JBrowse link
G SLC2A9 solute carrier family 2 member 9 ISO ClinVar Annotator: match by term: Dalmatian hypouricemia ClinVar NCBI chr 3:69,394,304...69,588,462
Ensembl chr 3:69,394,152...69,595,802 		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 chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447 		JBrowse link
G GSR glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24360074 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815 		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 chr28:21,402,068...21,527,006
Ensembl chr28:21,403,680...21,525,063 		JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:22494008 RGD:6893519 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		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 chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329 		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 chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069 		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 chr  X:42,705,789...42,860,701
Ensembl chr  X:42,704,627...42,853,812 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      Urogenital Diseases 4732
        urinary system disease 2400
          urolithiasis 66
            Glycinuria with or without Oxalate Urolithiasis 4
            Urinary Calculi + 21
            adenine phosphoribosyltransferase deficiency 3
            cystinuria + 7
            nephrolithiasis + 45
            ureterolithiasis + 4
            uric acid urolithiasis 0
paths to the root