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: Albuminuria
Accession: DOID:9001542
browse the term
Definition: The presence of albumin in the urine, an indicator of KIDNEY DISEASES.
Synonyms: exact_synonym: Albuminurias
primary_id: MESH:D000419
xref: EFO:0004285
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Ace
angiotensin I converting enzyme
treatment
ISO IMP
associated with Diabetes Mellitus, Type 1;protein:increased activity:serum (human) CTD Direct Evidence: marker/mechanism associated with Diabetic Nephropathies
CTD RGD
PMID:23733546 PMID:1336356 PMID:16902320
RGD:7829770 , RGD:12879427
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adm
adrenomedullin
ISO
associated with Hypertension
RGD
PMID:19424162
RGD:2313311
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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Ager
advanced glycosylation end product-specific receptor
treatment
ISO IDA
associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human) associated with Diabetic Nephropathies associated with Diabetes Mellitus, Experimental
RGD
PMID:21607631 PMID:20627935 PMID:21796806
RGD:7243944 , RGD:7244135 , RGD:7244184
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12414515 PMID:18679781 PMID:21896938 PMID:15118671
RGD:1331525
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Akr1b1
aldo-keto reductase family 1 member B1
ISO
associated with Diabetes Mellitus, Experimental;human gene in a rat model
RGD
PMID:12166624
RGD:8548813
NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
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Alb
albumin
ISO IEP
associated with Diabetes Mellitus, Insulin-Dependent associated with hypertension
RGD
PMID:19414946 PMID:15102963
RGD:2306884 , RGD:1601157
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Alox12
arachidonate 12-lipoxygenase, 12S type
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:cds:p.R261Q (human)
RGD
PMID:18640486
RGD:2313875
NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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B2m
beta-2 microglobulin
ISO
associated with HIV infections;protein:increased expression:urine
RGD
PMID:18469311
RGD:6482713
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Casp1
caspase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22647887
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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Casr
calcium-sensing receptor
IDA
associated with Uremia
RGD
PMID:19188910
RGD:7205661
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Ccl4
C-C motif chemokine ligand 4
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:urine
RGD
PMID:21113841
RGD:5683918
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Cd38
CD38 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21992601
NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
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Ciita
class II, major histocompatibility complex, transactivator
ISO
DNA:polymorphism:promoter:-168A>G, in non-diabetic subjects (human)
RGD
PMID:17183695
RGD:5491201
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21752484
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Crp
C-reactive protein
severity
ISO
associated with Anemia, Sickle Cell; protein:increased expression:serum associated with hypertension
RGD
PMID:20710104 PMID:20016210
RGD:6907441 , RGD:6909147
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Csf1
colony stimulating factor 1
treatment
IDA
associated with Hypercholesterolemia and Diabetes Mellitus, Experimental
RGD
PMID:8573750
RGD:7257591
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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Cst3
cystatin C
ISO
associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human)
RGD
PMID:19596469
RGD:2314309
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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Ctsb
cathepsin B
IDA
associated with Hypertension
RGD
PMID:19023196
RGD:2315726
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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Ctsl
cathepsin L
IDA
associated with Hypertension
RGD
PMID:19023196
RGD:2315726
NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
IMP
RGD
PMID:15939810
RGD:2307307
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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Drd1
dopamine receptor D1
ISO
DNA:polymorphism:5' utr:g.-94G>A rs5326 (human)
RGD
PMID:17353515
RGD:7248452
NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
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Edn1
endothelin 1
IEP
protein:increased expression:renal papilla (rat)
RGD
PMID:20666571
RGD:4144838
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Epo
erythropoietin
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum
RGD
PMID:16921186
RGD:2313841
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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F7
coagulation factor VII
severity no_association
ISO
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)
RGD
PMID:8458188 PMID:9187410 PMID:8250495
RGD:2312410 , RGD:2312406 , RGD:2312407
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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Fbn1
fibrillin 1
ISO
associated with Hypertension
RGD
PMID:16380460
RGD:7365080
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Ggt1
gamma-glutamyltransferase 1
ISO
associated with Diabetes Mellitus; protein:increased activity:serum
RGD
PMID:15890893
RGD:2315606
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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Gnaq
G protein subunit alpha q
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16267159
NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
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Gpc5
glypican 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21441931
NCBI chr15:92,207,275...93,644,054
Ensembl chr15:92,239,176...93,643,282
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Havcr1
hepatitis A virus cellular receptor 1
ISO
associated with Anemia, Sickle Cell;protein:increased expression:urine:
RGD
PMID:21630304
RGD:7245982
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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Igf1
insulin-like growth factor 1
susceptibility
ISO
RGD
PMID:16645019
RGD:1598420
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Il1b
interleukin 1 beta
ISO
RGD
PMID:23103566
RGD:7175089
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17167242
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9861226 PMID:29420703
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17065336 PMID:20175764 PMID:23159718 PMID:28130181 PMID:29988851
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Lipc
lipase C, hepatic type
ISO
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human)
RGD
PMID:8666151
RGD:2308836
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Lrp2
LDL receptor related protein 2
IDA
RGD
PMID:12121845
RGD:1641839
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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Mir130a
microRNA 130a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24223694
NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629
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Mir145
microRNA 145
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24223694
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Mir155
microRNA 155
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24223694
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir322
microRNA 322
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24223694
NCBI chr X:132,806,594...132,806,688
Ensembl chr X:132,806,594...132,806,688
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Mmp9
matrix metallopeptidase 9
onset
ISO
associated with Diabetes Mellitus, Type 2; protein:increased expression:plasma (human)
RGD
PMID:9774113
RGD:7207214
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)
RGD
PMID:22554825
RGD:6893631
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Myh9
myosin, heavy chain 9
ISO
associated with hypertension;DNA:SNPs: :
RGD
PMID:19153477
RGD:6903241
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Nck1
NCK adaptor protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19443634
NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300
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Nck2
NCK adaptor protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19443634
NCBI chr 9:45,713,979...45,840,330
Ensembl chr 9:45,714,883...45,840,307
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Nphs2
NPHS2 stomatin family member, podocin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15684566
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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Nr4a1
nuclear receptor subfamily 4, group A, member 1
IMP
compared to FHH
RGD
PMID:24722447
RGD:12910103
NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
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Nr4a1m1Mcwi
nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin
IMP
compared to FHH
RGD
PMID:24722447
RGD:12910103
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Pdpn
podoplanin
IEP
RGD
PMID:18199599
RGD:2292240
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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Pon1
paraoxonase 1
ISO
DNA:polymorphisms:promoter, cds (human)
RGD
PMID:16949520
RGD:2313272
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ppargc1a
PPARG coactivator 1 alpha
ISO
associated with Diabetes Mellitus, Type 2; DNA:snp:cds:g.75919G>A rs8192678 (human)
RGD
PMID:22684233
RGD:7242025
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17890881
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Pth
parathyroid hormone
ISO
associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human)
RGD
PMID:23066118
RGD:7242730
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Pycard
PYD and CARD domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22647887
NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
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Rab38
RAB38, member RAS oncogene family
IAGP
compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi
RGD
PMID:15758045 PMID:23291471
RGD:1357409 , RGD:13782139
NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924
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Rab38em1Mcwi
RAB38, member RAS oncogene family; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IAGP
compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi
RGD
PMID:23291471
RGD:13782139
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Rag1
recombination activating 1
IMP
RGD
PMID:23364523
RGD:7207429
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Rag1em1Mcwi
recombination activating gene 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
as compare to o.4% NaCl diet
RGD
PMID:23364523
RGD:7207429
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Rag1em2Mcwi
recombination activating gene 1; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:23364523
RGD:7207429
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Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12414515 PMID:18679781
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Retn
resistin
ISO
associated with Hypertension;protein:increased expression:blood
RGD
PMID:20203628
RGD:7207150
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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Serpine1
serpin family E member 1
ISO
associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)
RGD
PMID:9201602
RGD:8547710
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Serpinf1
serpin family F member 1
treatment
ISO
associated with Diabetes Mellitus, Experimental; human gene in a rat model
RGD
PMID:16731830
RGD:8554875
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Sh2b3
SH2B adaptor protein 3
IMP
RGD
PMID:25776069
RGD:13442483
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Sh2b3em1Mcwi
SH2B adaptor protein 3; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
RGD
PMID:25776069
RGD:13442483
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Shc1
SHC adaptor protein 1
ameliorates
IMP
RGD
PMID:27270176
RGD:12792230
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
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Shc1em4Mcwi
SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin
ameliorates
IMP
RGD
PMID:27270176
RGD:12792230
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17942768
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Spp1
secreted phosphoprotein 1
IEP
RGD
PMID:18443355
RGD:6903862
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Tmem63c
transmembrane protein 63c
IEP
mRNA:increased expression:kidney,renal glomerulus (rat)
RGD
PMID:30900988
RGD:15023481
NCBI chr 6:106,667,389...106,738,778
Ensembl chr 6:106,672,934...106,736,990
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17167242
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Trpc3
transient receptor potential cation channel, subfamily C, member 3
IEP
associated with Hypertension;mRNA, protein:increased expression:kidney cortex
RGD
PMID:19887786
RGD:7247603
NCBI chr 2:119,481,313...119,619,333
Ensembl chr 2:119,481,400...119,558,855
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Trpc5
transient receptor potential cation channel, subfamily C, member 5
ISO
RGD
PMID:24231357
RGD:10043830
NCBI chr X:107,946,163...108,230,991
Ensembl chr X:107,939,131...108,230,991
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
ISO IEP
associated with Hypertension;mRNA:decreased expression:kidney cortex
RGD
PMID:21839714 PMID:19887786
RGD:7247445 , RGD:7247603
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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Tslp
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17686814
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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Vcam1
vascular cell adhesion molecule 1
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
RGD
PMID:18299691
RGD:2312766
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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