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.
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TREM1
triggering receptor expressed on myeloid cells 1
treatment ameliorates exacerbates
IDA ISO
associated with bacterial pneumonia
RGD
PMID:21507332 PMID:16960786 PMID:17230441
RGD:126925982 , RGD:127229902 , RGD:126928125
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,100...41,286,682
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C3
complement C3
ISO
associated with Experimental Liver Cirrhosis; protein:decreased expression:serum
RGD
PMID:11349015
RGD:408395143
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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CCL2
C-C motif chemokine ligand 2
IEP
associated with Febrile Neutropenia;protein:increased expression:serum (human)
RGD
PMID:22584776
RGD:11528568
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CEBPB
CCAAT enhancer binding protein beta
ISO
associated with alcohol use disorder;mRNA:increased expression:bone marrow (mouse)
RGD
PMID:28784931
RGD:40903040
NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,734...50,192,690
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CFH
complement factor H
IDA
associated with Meningococcal Infections;
RGD
PMID:22104107
RGD:7364945
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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CISH
cytokine inducible SH2 containing protein
susceptibility
IAGP EXP
ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:20484391
NCBI chr 3:50,606,489...50,611,774
Ensembl chr 3:50,606,489...50,611,774
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CPB2
carboxypeptidase B2
ISO
protein:decreased activity:plasma
RGD
PMID:17911187
RGD:2313646
NCBI chr13:46,053,186...46,105,033
Ensembl chr13:46,053,186...46,105,033
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CRP
C-reactive protein
IEP
protein:increased expression:serum:
RGD
PMID:18443549
RGD:9491402
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CSF2
colony stimulating factor 2
treatment
ISO
RGD
PMID:2192004
RGD:10449532
NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
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FCGR2A
Fc gamma receptor IIa
IAGP
associated with Pneumonia;DNA:SNP: :p.H131R (rs1801274) (human)
RGD
PMID:21317643
RGD:5147986
NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
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HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
severity
IMP
RGD
PMID:11565076
RGD:5508478
NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
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ICAM1
intercellular adhesion molecule 1
ISO
mRNA:increased expression:lung,thymus,spleen:
RGD
PMID:24891762
RGD:11354979
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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IL17A
interleukin 17A
IEP
associated with Respiratory Distress Syndrome, Adult; protein:increased expression:serum
RGD
PMID:21062445
RGD:5128683
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL27
interleukin 27
HEP
protein:increased expression:blood serum (human)
RGD
PMID:26514771
RGD:126790515
NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
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ITIH4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:liver, serum
RGD
PMID:33348064
RGD:40907057
NCBI chr 3:52,812,962...52,830,672
Ensembl chr 3:52,812,962...52,830,688
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LOC129936806
ATAC-STARR-seq lymphoblastoid silent region 14400
IAGP
ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2
ClinVar
PMID:20484391
NCBI chr 3:50,611,643...50,612,122
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MAPKAPK3
MAPK activated protein kinase 3
IAGP
ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2
ClinVar
PMID:20484391
NCBI chr 3:50,611,520...50,649,291
Ensembl chr 3:50,611,520...50,649,291
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MBL2
mannose binding lectin 2
treatment
IAGP
associated with Multiple Myeloma:DNA:polymorphism:exon:
RGD
PMID:16953214
RGD:11530047
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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NOD2
nucleotide binding oligomerization domain containing 2
severity
IAGP
associated with Staphylococcal Infections;
RGD
PMID:24086711
RGD:13204726
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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PLAT
plasminogen activator, tissue type
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:1430592
NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
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PLAUR
plasminogen activator, urokinase receptor
severity
IEP
RGD
PMID:21332843
RGD:6483799
NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547
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SERPINC1
serpin family C member 1
treatment
IDA
RGD
PMID:2679067
RGD:11035251
NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
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SOD2
superoxide dismutase 2
ISO
mRNA:increased expression:liver:
RGD
PMID:24253037
RGD:26923958
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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TIRAP
TIR domain containing adaptor protein
IAGP EXP
ClinVar Annotator: match by term: Bacteremia, susceptibility to, 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868
NCBI chr11:126,283,093...126,294,933
Ensembl chr11:126,282,497...126,298,845
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TLR4
toll like receptor 4
susceptibility
IAGP
DNA:polymorphisms:cds:p.D299G, T399I (human)
RGD
PMID:18180796
RGD:4144194
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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ABCB1
ATP binding cassette subfamily B member 1
ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:26977098
RGD:11041000
NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
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ABCB11
ATP binding cassette subfamily B member 11
ISO
RGD
PMID:9828229
RGD:1598596
NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324
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ABCC2
ATP binding cassette subfamily C member 2
ISO
RGD
PMID:16572733
RGD:1598611
NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594
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ABCC8
ATP binding cassette subfamily C member 8
ISO
RGD
PMID:17285300
RGD:2301914
NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
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ACE
angiotensin I converting enzyme
ISO
associated with Hemorrhage;protein:decreased activity:plasma (rat)
RGD
PMID:3028670
RGD:8142370
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ACHE
acetylcholinesterase (Yt blood group)
IDA
RGD
PMID:17657467
RGD:5688055
NCBI chr 7:100,889,994...100,896,994
Ensembl chr 7:100,889,994...100,896,974
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ACTC1
actin alpha cardiac muscle 1
ISO
RGD
PMID:11680626
RGD:1598729
NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589
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ADAMTS1
ADAM metallopeptidase with thrombospondin type 1 motif 1
ISO
protein:increased expression:plasma, spleen
RGD
PMID:23025351
RGD:9681752
NCBI chr21:26,835,755...26,845,409
Ensembl chr21:26,835,755...26,845,409
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ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
associated with Obesity
RGD
PMID:23838384
RGD:8695926
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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ADIPOR2
adiponectin receptor 2
severity
ISO
associated with obesity;mRNA:decreased expression:liver (rat)
RGD
PMID:23838384
RGD:8695926
NCBI chr12:1,691,070...1,788,674
Ensembl chr12:1,688,574...1,788,674
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ADRA2A
adrenoceptor alpha 2A
onset
ISO
mRNA:increased expression:spleen
RGD
PMID:20302880
RGD:6480487
NCBI chr10:111,077,029...111,080,907
Ensembl chr10:111,077,029...111,080,907
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AGTR1
angiotensin II receptor type 1
ISO
protein:increased expression:kidney
RGD
PMID:16725227
RGD:6903849
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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AGTR2
angiotensin II receptor type 2
ISO
protein:decreased expression:kidney
RGD
PMID:16725227
RGD:6903849
NCBI chr X:116,170,744...116,174,974
Ensembl chr X:116,170,744...116,174,974
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AHR
aryl hydrocarbon receptor
severity
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
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AKT1
AKT serine/threonine kinase 1
ISO
RGD
PMID:22824368
RGD:38676479
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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ALDOA
aldolase, fructose-bisphosphate A
ISO
RGD
PMID:16930621
RGD:1599054
NCBI chr16:30,053,151...30,070,414
Ensembl chr16:30,053,090...30,070,420 Ensembl chr16:30,053,090...30,070,420 Ensembl chr16:30,053,090...30,070,420
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ALDOA
aldolase, fructose-bisphosphate A
ISO
RGD
PMID:16930621
RGD:1599054
NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457
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ALOX5
arachidonate 5-lipoxygenase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15328337
NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
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APOA1
apolipoprotein A1
treatment
IDA ISO
RGD
PMID:18593575 PMID:23227448
RGD:7241573 , RGD:7241868
NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
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APOB
apolipoprotein B
ISO
RGD
PMID:16719989
RGD:1599165
NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
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APOE
apolipoprotein E
IDA
rat model treated with human protein
RGD
PMID:9153287
RGD:6904216
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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ASL
argininosuccinate lyase
ISO
RGD
PMID:10652239
RGD:1599265
NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697
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ASS1
argininosuccinate synthase 1
ISO
RGD
PMID:10652239
RGD:1599265
NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274
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ATF2
activating transcription factor 2
treatment
ISO
protein:increased expression, increased activity:small intestine mucosa
RGD
PMID:21641970 PMID:24312512
RGD:5135029 , RGD:10047418
NCBI chr 2:175,072,259...175,168,203
Ensembl chr 2:175,072,250...175,168,382
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ATP5F1A
ATP synthase F1 subunit alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334
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BAX
BCL2 associated X, apoptosis regulator
ISO
mRNA:increased expression:diaphragm
RGD
PMID:23940949
RGD:10054120
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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BCHE
butyrylcholinesterase
IDA
RGD
PMID:17657467
RGD:5688055
NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
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BCL2
BCL2 apoptosis regulator
ISO
mRNA:decreased expression:diaphragm
RGD
PMID:23940949
RGD:10054120
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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C5AR1
complement C5a receptor 1
ISO
mRNA:increased expression:lung
RGD
PMID:9272704
RGD:70679
NCBI chr19:47,307,477...47,322,066
Ensembl chr19:47,290,023...47,322,066
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CASP1
caspase 1
ISO
RGD
PMID:17384935
RGD:2315892
NCBI chr11:105,025,443...105,036,686
Ensembl chr11:105,025,397...105,035,250
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CASP3
caspase 3
ISO
mRNA:increased expression:diaphragm
RGD
PMID:23940949
RGD:10054120
NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
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CASP7
caspase 7
ISO
RGD
PMID:19168786
RGD:5684539
NCBI chr10:113,679,194...113,730,909
Ensembl chr10:113,679,162...113,730,907
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CASP9
caspase 9
treatment
ISO
RGD
PMID:23214195
RGD:10400903
NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
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CBS
cystathionine beta-synthase
severity
ISO
mRNA:increased expression:liver (rat) Protein:increased expression:spleen, lung (mouse)
RGD
PMID:27748832 PMID:16100527 PMID:24702258 PMID:27748832
RGD:40903019 , RGD:40903049 , RGD:40903035 , RGD:40903019
NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
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CCL2
C-C motif chemokine ligand 2
ISO
protein:increased expression:plasma
RGD
PMID:19060786
RGD:2307004
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCL5
C-C motif chemokine ligand 5
ISO
protein:increased expression:plasma
RGD
PMID:16215387
RGD:2307171
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CCR1
C-C motif chemokine receptor 1
ISO
RGD
PMID:17016504
RGD:5688178
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
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CD14
CD14 molecule
ISO
protein:increased expression:liver, endothelial cell of sinusoid
RGD
PMID:12046090
RGD:724637
NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
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CD40
CD40 molecule
ISO
protein:decreased nitrosylation:macrophage
RGD
PMID:20473113
RGD:5490974
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CEBPB
CCAAT enhancer binding protein beta
treatment
ISO
RGD
PMID:15192048 PMID:14659593
RGD:1625687 , RGD:40903034
NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,734...50,192,690
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CPS1
carbamoyl-phosphate synthase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
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CS
citrate synthase
ISO
protein:increased expression:gastrocnemius
RGD
PMID:25674200
RGD:329337350
NCBI chr12:56,271,699...56,300,330
Ensembl chr12:56,271,699...56,300,391
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CSF3
colony stimulating factor 3
treatment
IDA
RGD
PMID:9514298
RGD:11039535
NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO
protein:increased expression:atrium endocardium
RGD
PMID:19282612
RGD:4891965
NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
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CXCL1
C-X-C motif chemokine ligand 1
ISO
mRNA:increased expression:multiple organs
RGD
PMID:9766630
RGD:5135254
NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
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CXCL2
C-X-C motif chemokine ligand 2
ISO
mRNA:increased expression:multiple organs
RGD
PMID:9766630
RGD:5135254
NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
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CXCL5
C-X-C motif chemokine ligand 5
ISO
mRNA:increased expression:multiple organs
RGD
PMID:9766630
RGD:5135254
NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677
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CXCL6
C-X-C motif chemokine ligand 6
ISO
mRNA:increased expression:multiple organs
RGD
PMID:9766630
RGD:5135254
NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064
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EDN1
endothelin 1
ISO
mRNA, protein:increased expression:liver (rat)
RGD
PMID:11206318
RGD:8662297
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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EP300
E1A binding protein p300
ISO
associated with Kidney Reperfusion Injury; protein:altered localization:kidney (rat)
RGD
PMID:23936185
RGD:7257563
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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EPHX2
epoxide hydrolase 2
ISO
RGD
PMID:19154430
RGD:5688360
NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564
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EPO
erythropoietin
treatment
IDA
RGD
PMID:23214195
RGD:10400903
NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
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F12
coagulation factor XII
ISO
RGD
PMID:11092686
RGD:7394782
NCBI chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,133...177,416,583
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F2
coagulation factor II, thrombin
treatment severity
ISO IEP
associated with liver cirrhosis;protein:increased expression:blood plasma (human) associated with liver cirrhosis;protein:increased expression:plasma (human)
RGD
PMID:21396682 PMID:10604885 PMID:7615203 PMID:10887118 PMID:9863491 PMID:25396762 PMID:22227956 PMID:20519137 More...
RGD:5147765 , RGD:40818436 , RGD:14974253 , RGD:40818427 , RGD:14401592 , RGD:10449434 , RGD:6893482 , RGD:5147779
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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F3
coagulation factor III, tissue factor
treatment
ISO IMP
associated with Protein C Deficiency
RGD
PMID:21396682 PMID:20858853 PMID:8956768
RGD:5147765 , RGD:11341685 , RGD:11340208
NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759
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F5
coagulation factor V
ISO
RGD
PMID:11092686
RGD:7394782
NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
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F7
coagulation factor VII
treatment
ISO
RGD
PMID:11092686 PMID:16378835
RGD:7394782 , RGD:11041650
NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685
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F8
coagulation factor VIII
ISO
RGD
PMID:11092686
RGD:7394782
NCBI chr X:154,835,792...155,022,723
Ensembl chr X:154,835,788...155,026,940
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FAS
Fas cell surface death receptor
ISO
mRNA, protein:increased expression:spleen (rat)
RGD
PMID:20428798
RGD:8662930
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FGA
fibrinogen alpha chain
treatment
ISO
RGD
PMID:19295478
RGD:11040925
NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742
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FOXP3
forkhead box P3
ISO
protein:increased expression:intestinal mucosa
RGD
PMID:19998507
RGD:38455980
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
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GCH1
GTP cyclohydrolase 1
treatment
ISO
mRNA:increased expression:lung associated with liver cirrhosis
RGD
PMID:9388472 PMID:16845913 PMID:14647062
RGD:329961576 , RGD:401793756 , RGD:401700399
NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
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GFER
growth factor, augmenter of liver regeneration
ISO
RGD
PMID:23073658
RGD:9685733
NCBI chr16:1,984,193...1,987,749
Ensembl chr16:1,984,193...1,987,749
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GHR
growth hormone receptor
ISO
mRNA:decreased expression:liver
RGD
PMID:12654216 PMID:12217886
RGD:2307380 , RGD:625688
NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
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GPT
glutamic--pyruvic transaminase
treatment
ISO
RGD
PMID:25514429
RGD:401717525
NCBI chr 8:144,503,068...144,507,172
Ensembl chr 8:144,502,973...144,507,174
G
GSR
glutathione-disulfide reductase
treatment
ISO
RGD
PMID:25469663
RGD:10401928
NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
G
HMGB1
high mobility group box 1
ISO
protein:increased expression:heart, serum
RGD
PMID:18503231
RGD:10402065
NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
G
HMOX1
heme oxygenase 1
treatment
ISO
RGD
PMID:21396999
RGD:10755715
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
G
HSF1
heat shock transcription factor 1
treatment
ISO
RGD
PMID:25571843
RGD:10402404
NCBI chr 8:144,291,604...144,314,720
Ensembl chr 8:144,291,591...144,314,720
G
HSPA9
heat shock protein family A (Hsp70) member 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
G
HSPD1
heat shock protein family D (Hsp60) member 1
ISO EXP
mRNA, protein:increased expression:medulla oblongata CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16741687 PMID:16675490
RGD:1624232
NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
G
ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:lung (rat)
RGD
PMID:19776691
RGD:4145502
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
G
IDO1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:24930766 PMID:28077574
RGD:39939032 , RGD:39939117
NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
G
IDO2
indoleamine 2,3-dioxygenase 2
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chr 8:39,934,651...40,016,392
Ensembl chr 8:39,934,614...40,016,392
G
IFNG
interferon gamma
ISO
protein:increased expression:serum:
RGD
PMID:9195172
RGD:10755747
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
G
IGF1
insulin like growth factor 1
ISO
mRNA, protein:decreased expression:liver, serum
RGD
PMID:18492809 PMID:12217886
RGD:10402757 , RGD:625688
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
G
IGFALS
insulin like growth factor binding protein acid labile subunit
ISO
RGD
PMID:12217886
RGD:625688
NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971
G
IGFBP1
insulin like growth factor binding protein 1
ISO
RGD
PMID:12217886
RGD:625688
NCBI chr 7:45,888,488...45,893,660
Ensembl chr 7:45,888,360...45,893,660
G
IGFBP3
insulin like growth factor binding protein 3
ISO
mRNA, protein:decreased expression:liver, serum
RGD
PMID:18492809
RGD:10402757
NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
G
IGFBP5
insulin like growth factor binding protein 5
ISO
RGD
PMID:12217886
RGD:625688
NCBI chr 2:216,672,105...216,695,549
Ensembl chr 2:216,672,105...216,695,549
G
IL10
interleukin 10
treatment
ISO
RGD
PMID:28664613 PMID:27943364
RGD:14975137 , RGD:14975170
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
G
IL13
interleukin 13
treatment
IDA
RGD
PMID:10674721
RGD:8549626
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
G
IL1A
interleukin 1 alpha
ISO
protein:increased expression:plasma
RGD
PMID:9636192 PMID:22426124
RGD:6907109 , RGD:7794786
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
G
IL1B
interleukin 1 beta
ISO
protein:increased expression:plasma
RGD
PMID:17201737
RGD:1626625
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
G
IL1RN
interleukin 1 receptor antagonist
treatment
ISO IDA
mRNA:increased expression:lung, spleen, liver (rat)
RGD
PMID:1385928 PMID:8855299
RGD:8551846 , RGD:11522760
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL32
interleukin 32
ameliorates
IMP
human gene in a mouse model
RGD
PMID:24743568
RGD:150340731
NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
G
IL6
interleukin 6
ISO
associated with Diabetes Mellitus, Experimental; Protein:increased expression:extracellular space (rat) protein:increased expression:serum (rat)
RGD
PMID:19449282 PMID:22227956 PMID:21396682
RGD:2307179 , RGD:6893482 , RGD:5147765
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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IRAK3
interleukin 1 receptor associated kinase 3
IEP
mRNA, protein:increased expression:blood (human)
RGD
PMID:17982103
RGD:36049802
NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
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IRS1
insulin receptor substrate 1
ISO
protein:increased tyrosine nitration, decreased tyrosine phosphorylation:skeletal muscle
RGD
PMID:21206533
RGD:6483008
NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820
G
ITGA2B
integrin subunit alpha 2b
ISO
RGD
PMID:15280099
RGD:2316360
NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
G
ITGB3
integrin subunit beta 3
ISO
RGD
PMID:15280099
RGD:2316360
NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
G
KEAP1
kelch like ECH associated protein 1
ISO
RGD
PMID:22609006
RGD:6892951
NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558
G
LBP
lipopolysaccharide binding protein
treatment
ISO IMP
mRNA:increased expression:hepatocyte
RGD
PMID:8418776 PMID:8593028 PMID:16307218
RGD:9685191 , RGD:9685196 , RGD:9685193
NCBI chr20:38,346,482...38,377,013
Ensembl chr20:38,346,482...38,377,013
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LCN2
lipocalin 2
ISO
mRNA:increased expression:brain,liver
RGD
PMID:21943033
RGD:126779582
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
G
MAP2
microtubule associated protein 2
ISO
mRNA, protein:decreased expression:neuron
RGD
PMID:21421895
RGD:6483086
NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,147
G
MAPK14
mitogen-activated protein kinase 14
treatment
ISO
protein:increased activity:small intestine mucosa
RGD
PMID:21641970 PMID:24312512
RGD:5135029 , RGD:10047418
NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,752...36,122,511
G
MAPK8
mitogen-activated protein kinase 8
ISO
protein:increased phophorylation:hippocampus (rat)
RGD
PMID:12207162
RGD:150340687
NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
G
MC4R
melanocortin 4 receptor
ISO
mRNA:increased expression:paraventricular nucleus (rat)
RGD
PMID:21343543
RGD:6484214
NCBI chr18:60,371,062...60,372,775
Ensembl chr18:60,371,062...60,372,775
G
MIF
macrophage migration inhibitory factor
ISO
protein:increased expression:plasma
RGD
PMID:16601957
RGD:1641983
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
G
MIR146A
microRNA 146a
treatment
ISO
miRNA:increased expression:spleen (mouse)
RGD
PMID:30867482
RGD:34888227
NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
G
MIR155
microRNA 155
treatment
ISO
associated with familial hyperlipidemia
RGD
PMID:28970282 PMID:29979224 PMID:29079998 PMID:28264607
RGD:21079445 , RGD:21081538 , RGD:21081539 , RGD:24922204
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
G
MME
membrane metalloendopeptidase
severity
ISO
RGD
PMID:11078421
RGD:13801040
NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704
G
MMP3
matrix metallopeptidase 3
ISO
RGD
PMID:17083784
RGD:2290426
NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
G
MT2A
metallothionein 2A
ISO
mRNA:increased expression:liver (rat)
RGD
PMID:22100509
RGD:6483852
NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
G
MT3
metallothionein 3
ISO
RGD
PMID:12135776
RGD:10412330
NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088
G
MUC2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:19099858
RGD:7349370
NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511
G
MYH6
myosin heavy chain 6
ISO
RGD
PMID:7874842
RGD:12792976
NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
G
MYH7
myosin heavy chain 7
ISO
RGD
PMID:7874842
RGD:12792976
NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
G
NFE2L2
NFE2 like bZIP transcription factor 2
treatment
ISO
RGD
PMID:26646455
RGD:42722616
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
G
NFKBIA
NFKB inhibitor alpha
exacerbates treatment
ISO
RGD
PMID:19098124 PMID:10229101
RGD:126908017 , RGD:126928139
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
G
NOS2
nitric oxide synthase 2
ISO EXP
mRNA, protein:increased expression:intestine CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12620498 PMID:16787348 PMID:20519137
RGD:4891470 , RGD:5147779
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
G
NOS3
nitric oxide synthase 3
ISO
protein:increased expression:aorta (rat)
RGD
PMID:10462376
RGD:7794732
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
G
NPY
neuropeptide Y
treatment
ISO
RGD
PMID:15342191
RGD:1580787
NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
G
NR3C1
nuclear receptor subfamily 3 group C member 1
ISO
RGD
PMID:15640646
RGD:4892561
NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
G
OTC
ornithine transcarbamylase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chr X:38,327,684...38,422,928
Ensembl chr X:38,327,598...38,422,908
G
PCK1
phosphoenolpyruvate carboxykinase 1
ISO
RGD
PMID:19268478 PMID:12217886
RGD:10427879 , RGD:625688
NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121
G
PCK2
phosphoenolpyruvate carboxykinase 2, mitochondrial
ISO
mRNA,protein:decreased expression,decreased activity:liver:
RGD
PMID:19268478
RGD:10427879
NCBI chr14:24,094,171...24,104,125
Ensembl chr14:24,094,053...24,110,598
G
PCSK1
proprotein convertase subtilisin/kexin type 1
ISO
RGD
PMID:16337011
RGD:6483567
NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143
G
PCSK2
proprotein convertase subtilisin/kexin type 2
ISO
RGD
PMID:16337011
RGD:6483567
NCBI chr20:17,226,107...17,484,578
Ensembl chr20:17,226,107...17,484,578
G
PECAM1
platelet and endothelial cell adhesion molecule 1
ISO
RGD
PMID:22119535
RGD:6771174
NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
G
PF4
platelet factor 4
treatment
ISO
RGD
PMID:20601223
RGD:329901905
NCBI chr 4:73,980,811...73,982,124
Ensembl chr 4:73,980,811...73,982,027
G
PGF
placental growth factor
ISO
protein:increased expression:multiple
RGD
PMID:16702604
RGD:6483601
NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
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PLA2G7
phospholipase A2 group VII
ISO
protein:increased expression: :
RGD
PMID:10748027
RGD:7248791
NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693
G
PLAT
plasminogen activator, tissue type
treatment
IDA
RGD
PMID:9091588
RGD:11541073
NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
G
PPARG
peroxisome proliferator activated receptor gamma
ISO
protein:increased expression:small intestine mucosa
RGD
PMID:21641970
RGD:5135029
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
G
PRKAA1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
mRNA:decreased expression:epididymal fat pad
RGD
PMID:20421294
RGD:6484543
NCBI chr 5:40,759,389...40,798,374
Ensembl chr 5:40,759,389...40,798,374
G
PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
protein:increased expression:liver, mitochondrion (mouse)
RGD
PMID:28615325
RGD:13432559
NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
G
PROC
protein C, inactivator of coagulation factors Va and VIIIa
treatment
IDA
RGD
PMID:18205901 PMID:23170801
RGD:11100030 , RGD:11100034
NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
G
PTAFR
platelet activating factor receptor
treatment
ISO
RGD
PMID:2178565
RGD:10041063
NCBI chr 1:28,147,166...28,193,856
Ensembl chr 1:28,147,166...28,193,936
G
PTGER4
prostaglandin E receptor 4
ISO
protein:increased expression:paraventricular hypothalamic nucleus parvicellular division (rat)
RGD
PMID:11058222
RGD:10043329
NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735
G
PTGIS
prostaglandin I2 synthase
treatment
ISO
RGD
PMID:11076704
RGD:401960076
NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
G
PTGS2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:21641970
RGD:5135029
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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REN
renin
ISO
protein:increased activity:blood plasma (mouse) protein:increased activity:blood plasma (rat)
RGD
PMID:30027346 PMID:16512638
RGD:125097481 , RGD:125097499
NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
G
SERPINC1
serpin family C member 1
treatment
IDA ISO
RGD
PMID:16457847 PMID:21396682 PMID:20519137 PMID:15995859
RGD:1599326 , RGD:5147765 , RGD:5147779 , RGD:1599332
NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
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SERPINE1
serpin family E member 1
treatment
ISO
RGD
PMID:21396682 PMID:25396762
RGD:5147765 , RGD:10449434
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
G
SERPINF1
serpin family F member 1
IEP
protein:increased expression:plasma (human)
RGD
PMID:12386642
RGD:36174005
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
G
SERPING1
serpin family G member 1
treatment
IDA
RGD
PMID:18652771
RGD:8661643
NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
G
SLC18A3
solute carrier family 18 member A3
ISO
protein:decreased expression:parietal cortex
RGD
PMID:17306796
RGD:5686693
NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
G
SLC22A1
solute carrier family 22 member 1
treatment
ISO
RGD
PMID:18313662
RGD:7243881
NCBI chr 6:160,121,815...160,158,718
Ensembl chr 6:160,121,815...160,158,718
G
SLC22A2
solute carrier family 22 member 2
treatment
ISO
RGD
PMID:18313662
RGD:7243881
NCBI chr 6:160,216,755...160,258,821
Ensembl chr 6:160,171,061...160,277,638
G
SLC38A3
solute carrier family 38 member 3
ISO
RGD
PMID:20036385
RGD:9999227
NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486
G
SLC38A5
solute carrier family 38 member 5
ISO
RGD
PMID:20036385
RGD:9999227
NCBI chr X:48,458,544...48,470,260
Ensembl chr X:48,458,537...48,470,260
G
SLC7A5
solute carrier family 7 member 5
ISO
RGD
PMID:26337286
RGD:151361133
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507
G
SLPI
secretory leukocyte peptidase inhibitor
ISO
RGD
PMID:25466948
RGD:9999425
NCBI chr20:45,252,239...45,254,564
Ensembl chr20:45,252,239...45,254,564
G
SOCS1
suppressor of cytokine signaling 1
ISO
mRNA:increased expression:liver, skeletal muscle
RGD
PMID:15169905
RGD:2298923
NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
G
SOCS3
suppressor of cytokine signaling 3
ISO
mRNA:increased expression:liver, skeletal muscle
RGD
PMID:15169905 PMID:12217886
RGD:2298923 , RGD:625688
NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
G
SOD2
superoxide dismutase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
G
SPARC
secreted protein acidic and cysteine rich
ISO
mRNA, protein:decreased expression:kidney
RGD
PMID:10703670
RGD:2300026
NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
G
STAT5B
signal transducer and activator of transcription 5B
ISO
protein:decreased tyrosine phosphorylation:liver
RGD
PMID:17327369
RGD:1601383
NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
G
TBXA2R
thromboxane A2 receptor
ISO
RGD
PMID:15647606 PMID:2580129
RGD:1601450 , RGD:11059531
NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875
G
TBXAS1
thromboxane A synthase 1
ISO
RGD
PMID:15647606
RGD:1601450
NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325
G
TDO2
tryptophan 2,3-dioxygenase
severity
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chr 4:155,903,696...155,920,406
Ensembl chr 4:155,854,738...155,920,406
G
TFPI
tissue factor pathway inhibitor
treatment
IDA
RGD
PMID:17537762
RGD:11062086
NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760
G
THBD
thrombomodulin
ISO IDA
mRNA:decreased expression:endothelial cell
RGD
PMID:12611420 PMID:20348393 PMID:19487933
RGD:1601652 , RGD:5685037 , RGD:5684988
NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
G
TIMP3
TIMP metallopeptidase inhibitor 3
ISO
RGD
PMID:17083784
RGD:2290426
NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
G
TLR2
toll like receptor 2
treatment
ISO IEP
associated with liver cirrhosis
RGD
PMID:22172266 PMID:12610323
RGD:7241094 , RGD:597538466
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
TLR4
toll like receptor 4
treatment disease_progression
ISO
mRNA:increased expression:liver:
RGD
PMID:22172266 PMID:23977376 PMID:23977376
RGD:7241094 , RGD:14697731 , RGD:14697731
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
G
TNF
tumor necrosis factor
treatment
ISO
protein:increased expression:plasma XCO:0000822 JTE-607 associated with liver cirrhosis protein:increased expression:plasma (rat)
RGD
PMID:17324147 PMID:10493164 PMID:15242491 PMID:18078960 PMID:8283134 PMID:12813371 PMID:21396682 PMID:20519137 More...
RGD:4891465 , RGD:40903016 , RGD:38501090 , RGD:15023464 , RGD:14995443 , RGD:14995427 , RGD:5147765 , RGD:5147779
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
G
TREM1
triggering receptor expressed on myeloid cells 1
treatment
ISO IEP
RGD
PMID:21507332 PMID:15585833
RGD:126925982 , RGD:126928122
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,100...41,286,682
G
VCAM1
vascular cell adhesion molecule 1
ISO
mRNA:increased expression:brain:
RGD
PMID:20061033
RGD:7240511
NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
G
VWF
von Willebrand factor
ISO
protein:increased expression:endothelial cell:
RGD
PMID:2650559
RGD:11079230
NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
G
GCH1
GTP cyclohydrolase 1
treatment
ISO
RGD
PMID:8602831
RGD:329961578
NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
G
HTR2A
5-hydroxytryptamine receptor 2A
treatment
ISO
RGD
PMID:19318092
RGD:401901206
NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
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