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
associated with Diabetes Mellitus, Type 1;protein:increased activity:serum (human) associated with Diabetic Nephropathies CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:1336356 PMID:16902320 PMID:23733546
RGD:12879427 RGD:7829770
NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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ADM
adrenomedullin
ISO
associated with Hypertension
RGD
PMID:19424162
RGD:2313311
NCBI chr21:33,472,197...33,474,472
Ensembl chr21:33,471,623...33,474,495
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AGER
advanced glycosylation end-product specific receptor
treatment
ISO
associated with Diabetes Mellitus, Experimental associated with Diabetic Nephropathies associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human)
RGD
PMID:20627935 PMID:21607631 PMID:21796806
RGD:7243944 RGD:7244135 RGD:7244184
NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
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AGT
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12414515 PMID:18679781 PMID:21896938
NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
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AKR1B1
aldo-keto reductase family 1 member B
ISO
associated with Diabetes Mellitus, Experimental;human gene in a rat model
RGD
PMID:12166624
RGD:8548813
NCBI chr14:2,991,888...3,006,941
Ensembl chr14:2,991,888...3,006,940
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ALB
albumin
ISO
associated with hypertension associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:15102963 PMID:19414946
RGD:1601157 RGD:2306884
NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
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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 chr 5:32,026,193...32,038,698
Ensembl chr 5:31,882,501...32,038,119
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B2M
beta-2-microglobulin
ISO
associated with HIV infections;protein:increased expression:urine
RGD
PMID:18469311
RGD:6482713
NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997
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CASR
calcium sensing receptor
ISO
associated with Uremia
RGD
PMID:19188910
RGD:7205661
NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559
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CCL4
chemokine (C-C motif) ligand 4
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:urine
RGD
PMID:21113841
RGD:5683918
NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209
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CD38
CD38 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21992601
NCBI chr 3:64,529,129...64,577,755
Ensembl chr 3:64,529,721...64,578,099
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CIITA
class II major histocompatibility complex transactivator
ISO
DNA:polymorphism:promoter:-168A>G, in non-diabetic subjects
RGD
PMID:17183695
RGD:5491201
NCBI chr 6:31,774,486...31,837,025
Ensembl chr 6:31,774,609...31,836,820
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CP
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21752484
NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369
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CRP
C-reactive protein
severity
ISO
associated with Anemia, Sickle Cell; protein:increased expression:serum associated with hypertension
RGD
PMID:20016210 PMID:20710104
RGD:6907441 RGD:6909147
NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
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CSF1
colony stimulating factor 1
treatment
ISO
associated with Hypercholesterolemia and Diabetes Mellitus, Experimental
RGD
PMID:8573750
RGD:7257591
NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371
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CTSB
cathepsin B
ISO
associated with Hypertension
RGD
PMID:19023196
RGD:2315726
NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801
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CTSL3
cathepsin L family member 3
ISO
associated with Hypertension
RGD
PMID:19023196
RGD:2315726
NCBI chr 1:72,215,774...72,219,093
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DRD1
dopamine receptor D1
ISO
DNA:polymorphism:5' utr:g.-94G>A rs5326 (human)
RGD
PMID:17353515
RGD:7248452
NCBI chr 4:37,550,454...37,554,641
Ensembl chr 4:37,549,708...37,553,287
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EDN1
endothelin 1
ISO
protein:increased expression:renal papilla (rat)
RGD
PMID:20666571
RGD:4144838
NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
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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 chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
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F7
coagulation factor VII
no_association severity
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:8250495 PMID:8458188 PMID:9187410
RGD:2312406 RGD:2312407 RGD:2312410
NCBI chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024
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FBN1
fibrillin 1
ISO
associated with Hypertension
RGD
PMID:16380460
RGD:7365080
NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
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GGT1
gamma-glutamyltransferase 1
ISO
associated with Diabetes Mellitus; protein:increased activity:serum
RGD
PMID:15890893
RGD:2315606
NCBI chr26:28,301,455...28,315,029
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GNAQ
G protein subunit alpha q
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16267159
NCBI chr 1:80,733,530...80,928,065
Ensembl chr 1:80,715,366...80,928,065
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GPC5
glypican 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21441931
NCBI chr22:42,526,426...43,873,992
Ensembl chr22:42,526,054...43,870,405
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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 chr 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952 Ensembl chr 4:53,046,970...53,128,952
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IGF1
insulin like growth factor 1
susceptibility
ISO
RGD
PMID:16645019
RGD:1598420
NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
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IL1B
interleukin 1 beta
ISO
RGD
PMID:23103566
RGD:7175089
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17167242
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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INS
insulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9861226 PMID:29420703
NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
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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 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636
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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 chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037
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LOC607874
cystatin-C-like
ISO
associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human)
RGD
PMID:19596469
RGD:2314309
NCBI chr23:49,562...53,618
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LRP2
LDL receptor related protein 2
ISO
RGD
PMID:12121845
RGD:1641839
NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546
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MIR130A
microRNA mir-130a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24223694
NCBI chr18:38,543,618...38,543,679
Ensembl chr18:38,543,618...38,543,681
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MIR145
microRNA mir-145
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24223694
NCBI chr 4:59,533,128...59,533,210
Ensembl chr 4:59,533,128...59,533,210
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MIR155
microRNA mir-155
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24223694
NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
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MIR424
microRNA mir-424
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24223694
NCBI chr X:105,183,437...105,183,493
Ensembl chr X:105,183,437...105,183,493
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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 chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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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 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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MYH9
myosin heavy chain 9
ISO
associated with hypertension;DNA:SNPs: :
RGD
PMID:19153477
RGD:6903241
NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
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NCK1
NCK adaptor protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19443634
NCBI chr23:33,297,660...33,374,025
Ensembl chr23:33,297,756...33,372,534
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NCK2
NCK adaptor protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19443634
NCBI chr10:37,584,351...37,734,388
Ensembl chr10:37,585,565...37,732,994
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NPHS1
NPHS1 adhesion molecule, nephrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15684566
NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546
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NPHS2
NPHS2 stomatin family member, podocin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15684566
NCBI chr 7:20,347,526...20,375,975
Ensembl chr 7:20,354,134...20,374,020
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NR4A1
nuclear receptor subfamily 4 group A member 1
ISO
compared to FHH
RGD
PMID:24722447
RGD:12910103
NCBI chr27:2,947,729...2,965,045
Ensembl chr27:2,891,053...2,955,655
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PDPN
podoplanin
ISO
RGD
PMID:18199599
RGD:2292240
NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375
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PON1
paraoxonase 1
ISO
DNA:polymorphisms:promoter, cds (human)
RGD
PMID:16949520
RGD:2313272
NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
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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 chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17890881
NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
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PTH
parathyroid hormone
ISO
associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human)
RGD
PMID:23066118
RGD:7242730
NCBI chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967
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PYCARD
PYD and CARD domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22647887
NCBI chr 6:17,049,352...17,051,348
Ensembl chr 6:17,049,705...17,051,240
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RAB38
RAB38, member RAS oncogene family
ISO
compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi
RGD
PMID:15758045 PMID:23291471
RGD:1357409 RGD:13782139
NCBI chr21:11,769,924...11,823,546
Ensembl chr21:11,769,351...11,822,815
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RAG1
recombination activating 1
ISO
RGD
PMID:23364523
RGD:7207429
NCBI chr18:31,628,231...31,639,980
Ensembl chr18:31,630,737...31,641,660
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REN
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12414515 PMID:18679781
NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012
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RETN
resistin
ISO
associated with Hypertension;protein:increased expression:blood
RGD
PMID:20203628
RGD:7207150
NCBI chr20:52,434,148...52,435,627
Ensembl chr20:52,434,271...52,435,624
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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 chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
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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 chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
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SH2B3
SH2B adaptor protein 3
ISO
RGD
PMID:25776069
RGD:13442483
NCBI chr26:9,033,851...9,073,095
Ensembl chr26:9,005,281...9,070,204
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SHC1
SHC adaptor protein 1
ameliorates
ISO
RGD
PMID:27270176
RGD:12792230
NCBI chr 7:42,501,829...42,509,613
Ensembl chr 7:42,500,185...42,508,276
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SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17942768
NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
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SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:18443355
RGD:6903862
NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069
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TMEM63C
transmembrane protein 63C
ISO
mRNA:increased expression:kidney,renal glomerulus (rat)
RGD
PMID:30900988
RGD:15023481
NCBI chr 8:50,000,306...50,076,457
Ensembl chr 8:50,020,823...50,074,060
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17167242
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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TRPC3
transient receptor potential cation channel subfamily C member 3
ISO
associated with Hypertension;mRNA, protein:increased expression:kidney cortex
RGD
PMID:19887786
RGD:7247603
NCBI chr19:18,207,565...18,272,551
Ensembl chr19:18,207,417...18,271,828
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TRPC5
transient receptor potential cation channel subfamily C member 5
ISO
RGD
PMID:24231357
RGD:10043830
NCBI chr X:84,835,130...84,989,609
Ensembl chr X:84,801,096...85,116,625
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TRPC6
transient receptor potential cation channel subfamily C member 6
ISO
associated with Hypertension;mRNA:decreased expression:kidney cortex
RGD
PMID:19887786 PMID:21839714
RGD:7247445 RGD:7247603
NCBI chr 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723
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TSLP
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17686814
NCBI chr 3:1,502,469...1,507,696
Ensembl chr 3:1,503,188...1,507,696
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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 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
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