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: Urinary Calculi
Accession: DOID:9003311
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Definition: Low-density crystals or stones in any part of the URINARY TRACT. Their chemical compositions often include CALCIUM OXALATE, magnesium ammonium phosphate (struvite), CYSTINE, or URIC ACID.
Synonyms: exact_synonym: Urinary Calculus; Urinary Stone; Urinary Stones; Urinary Tract Stone; Urinary Tract Stones
primary_id: MESH:D014545
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Add3
adducin 3
IEP
RGD
PMID:15329129
RGD:2317717
NCBI chr 1:262,152,722...262,260,504
Ensembl chr 1:252,147,386...252,255,124
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F2
coagulation factor II, thrombin
ISO
RGD
PMID:22494008
RGD:6893519
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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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 chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Spp1
secreted phosphoprotein 1
no_association
ISO
DNA:polymorphism: :p.R9402H (human) DNA:polymorphism: :p.N9171S (human)
RGD
PMID:16145474 PMID:16145474
RGD:1581368 , RGD:1581368
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Vdr
vitamin D receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22232670
NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568
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Bglap
bone gamma-carboxyglutamate protein
ISO
RGD
PMID:12674322
RGD:7207412
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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Car2
carbonic anhydrase 2
IEP
RGD
PMID:10977795
RGD:1600710
NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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Cd44
CD44 molecule
IEP
RGD
PMID:16850024
RGD:2289370
NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620
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Cldn14
claudin 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19561606
NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
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F2
coagulation factor II, thrombin
susceptibility
ISO
DNA:haplotypes: :
RGD
PMID:21067798
RGD:6893526
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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Ifng
interferon gamma
ISO
associated with type 2 diabetes mellitus; mRNA:increased expression:kidney
RGD
PMID:21514417
RGD:6893463
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Mgp
matrix Gla protein
IDA
RGD
PMID:10460895
RGD:1582511
NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
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Mpo
myeloperoxidase
ISO
protein:increased activity:blood
RGD
PMID:18022927
RGD:7174700
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1324751
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Spp1
secreted phosphoprotein 1
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8325891 PMID:10890885 PMID:15954903 PMID:21378157 PMID:16105024
RGD:1581372 , RGD:6903839 , RGD:1581334
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Trpm7
transient receptor potential cation channel, subfamily M, member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24291744
NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
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Ltf
lactotransferrin
ISO
RGD
PMID:19202053
RGD:7243107
NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
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Slc22a12
solute carrier family 22 member 12
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dalmatian hypouricemia | ClinVar Annotator: match by term: Hereditary renal hypouricemia
CTD ClinVar
PMID:12024214 PMID:14655203 PMID:14694169 PMID:15054642 PMID:15327384 PMID:15634722 PMID:15741204 PMID:15912381 PMID:16199547 PMID:16385546 PMID:16703794 PMID:17103332 PMID:17362586 PMID:18492088 PMID:18760270 PMID:19019168 PMID:19092327 PMID:21148271 PMID:21211204 PMID:21366895 PMID:21614936 PMID:22045201 PMID:22132990 PMID:22194875 PMID:22257548 PMID:23043931 PMID:23386035 PMID:23525542 PMID:23652934 PMID:24033266 PMID:24827988 PMID:25264011 PMID:25658588 PMID:25741868 PMID:26500098 PMID:26603249 PMID:28492532 PMID:29486147 PMID:29659532 PMID:30097038 PMID:30315176 PMID:30920107 PMID:31131560 PMID:31591475 PMID:32271837 PMID:33821957 More...
NCBI chr 1:203,845,039...203,852,496
Ensembl chr 1:203,845,048...203,853,555
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Slc2a9
solute carrier family 2 member 9
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dalmatian hypouricemia
CTD ClinVar
PMID:18989453 PMID:22132990
NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981
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Slc22a12
solute carrier family 22 member 12
ISO
OMIM
NCBI chr 1:203,845,039...203,852,496
Ensembl chr 1:203,845,048...203,853,555
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Slc2a9
solute carrier family 2 member 9
ISO
ClinVar Annotator: match by term: Hypouricemia, renal, 2 | ClinVar Annotator: match by term: SLC2A9-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:18701466 PMID:19026395 PMID:19189137 PMID:19926891 PMID:21256783 PMID:21536615 PMID:21810765 PMID:22132964 PMID:24397858 PMID:24628802 PMID:24940677 PMID:25741868 PMID:25966807 PMID:26500098 PMID:27116386 PMID:28492532 PMID:29967582 More...
NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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Gsr
glutathione-disulfide reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24360074
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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