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: Fibrosis
Accession: DOID:9000784
browse the term
Definition: Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury.
Synonyms: exact_synonym: fibroses
primary_id: MESH:D005355
xref: EFO:0006890
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Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31697999
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Adam10
ADAM metallopeptidase domain 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32715474
NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
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Adcy5
adenylate cyclase 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25193472
NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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Adra2a
adrenoceptor alpha 2A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20083574
NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
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Adra2c
adrenoceptor alpha 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20083574
NCBI chr14:75,470,884...75,472,846
Ensembl chr14:75,471,143...75,472,846
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Adrb2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25193472
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Ager
advanced glycosylation end product-specific receptor
IDA
associated with Diabetes Mellitus, Experimental
RGD
PMID:12874465
RGD:1625346
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agt
angiotensinogen
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12414515 PMID:18785976 PMID:19373235 PMID:25398788 PMID:25807386 PMID:26648693 PMID:30634441 PMID:33676887 PMID:21367774 More...
RGD:5129174
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9596920 PMID:21367774
RGD:5129174
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Agtr2
angiotensin II receptor, type 2
ISO IMP
associated with Ureteral Obstruction associated with Hypertension
RGD
PMID:18327089 PMID:22184331
RGD:6903848 , RGD:6903874
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24448315
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24309158
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Angpt1
angiopoietin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18480750 PMID:18626492
NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
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Apln
apelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30634441
NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391
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Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32081687
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Asip
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:37769864
NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
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Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24358288
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atp6ap2
ATPase H+ transporting accessory protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21795644
NCBI chr X:10,183,983...10,210,948
Ensembl chr X:10,183,068...10,210,918
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Bdkrb1
bradykinin receptor B1
IMP
RGD
PMID:15253105
RGD:1625759
NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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Bmp10
bone morphogenetic protein 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31712309
NCBI chr 4:119,872,066...119,877,694
Ensembl chr 4:119,872,045...119,878,627
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Calr
calreticulin
disease_progression
IEP
associated with kidney disease; mRNA, protein:increased expression:kidney cortex
RGD
PMID:18563736
RGD:2326172
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Car9
carbonic anhydrase 9
ISO
associated with Breast Neoplasms;mRNA:increased expression:breast
RGD
PMID:18483361
RGD:2293190
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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Ccl11
C-C motif chemokine ligand 11
IEP
RGD
PMID:20832583
RGD:4145471
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Ccn2
cellular communication network factor 2
IMP
RGD
PMID:18790236
RGD:2314612
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Ccnd2
cyclin D2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16306446
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:17823201
RGD:8547759
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31697999
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
IEP
protein:decreased expression:renal tubule
RGD
PMID:16137007
RGD:2293625
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Cebpb
CCAAT/enhancer binding protein beta
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29266779
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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Chrna1
cholinergic receptor nicotinic alpha 1 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19690163
NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
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Col18a1
collagen type XVIII alpha 1 chain
IEP
mRNA:increased expression:liver
RGD
PMID:11592600
RGD:632362
NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
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Col1a1
collagen type I alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20388698
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col1a2
collagen type I alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20388698
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Col3a1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20388698
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18785976 PMID:20005281
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
IEP
protein:increased expression:liver (rat)
RGD
PMID:16938653
RGD:4891377
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22028442
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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Dcn
decorin
IEP ISO
mRNA:increased expression:kidney CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16005714 PMID:16005714
RGD:2311424
NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270
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Fech
ferrochelatase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10464147
NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
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Gata1
GATA binding protein 1
ISO
RGD
PMID:15665119
RGD:10450614
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Gpx4
glutathione peroxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26042203
NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
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Hdac3
histone deacetylase 3
IEP
protein:increased expression:penis:
RGD
PMID:24636283
RGD:9590194
NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
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Hdac4
histone deacetylase 4
IEP
protein:increased expression:penis:
RGD
PMID:24636283
RGD:9590194
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18784349
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Icam1
intercellular adhesion molecule 1
IEP
mRNA, protein:increased expression:pancreas
RGD
PMID:22844569
RGD:8547732
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il13
interleukin 13
treatment
IEP
associated with Venous Thrombosis
RGD
PMID:12947342
RGD:8549644
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25388157
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7637259
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24286936 PMID:10486156
RGD:7829775
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Klf5
KLF transcription factor 5
severity
ISO
RGD
PMID:15098654
RGD:1304323
NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
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Klk1
kallikrein 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18227104
NCBI chr 1:94,642,644...94,646,760
Ensembl chr 1:94,642,687...94,646,754
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Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20567778 PMID:29988851 PMID:36066211
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Lgals3
galectin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27870162
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
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Lipa
lipase A, lysosomal acid type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35679793
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
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Lum
lumican
IEP
mRNA:increased expression:liver associated with Pancreatitis;mRNA, protein:increased expression, altered localization:pancreas
RGD
PMID:1385211 PMID:12645630
RGD:2317695 , RGD:724427
NCBI chr 7:32,358,990...32,365,794
Ensembl chr 7:32,358,614...32,365,793
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Map2k7
mitogen activated protein kinase kinase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21284947
NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222
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Mir133a1
microRNA 133a-1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19893015
NCBI chr18:1,885,082...1,885,168
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Mir155
microRNA 155
ISO
RGD
PMID:28947593
RGD:21079432
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir21
microRNA 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23469132
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir217
microRNA 217
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26891083
NCBI chr14:102,531,505...102,531,609
Ensembl chr14:102,531,505...102,531,609
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Mir30d
microRNA 30d
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31697999
NCBI chr 7:100,136,391...100,136,472
Ensembl chr 7:100,136,391...100,136,472
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Mir30e
microRNA 30e
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31697999
NCBI chr 5:134,352,232...134,352,323
Ensembl chr 5:134,352,232...134,352,323
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Mirlet7f2
microRNA let-7f-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31570982
NCBI chr X:20,980,632...20,980,714
Ensembl chr X:20,980,632...20,980,714
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Mmp2
matrix metallopeptidase 2
IEP
protein:increased expression:liver
RGD
PMID:20108118
RGD:2325790
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
IEP
protein:increased expression:liver
RGD
PMID:20108118
RGD:2325790
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Notch2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32715474
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Npr1
natriuretic peptide receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20881240
NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505
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Parp1
poly (ADP-ribose) polymerase 1
ISO
associated with Ureteral Obstruction
RGD
PMID:21613422
RGD:5683902
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Pdgfb
platelet derived growth factor subunit B
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22004089 PMID:17195235 PMID:11780721 PMID:8644858
RGD:6482660 , RGD:6482691 , RGD:6482673
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pdgfd
platelet derived growth factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25280005
NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
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Phb1
prohibitin 1
ISO
associated with Glomerulonephritis;protein:decreased expression:kidney, epithelial cell
RGD
PMID:17043753
RGD:2292410
NCBI chr10:80,605,268...80,618,043
Ensembl chr10:80,605,251...80,618,042
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Phkg2
phosphorylase kinase catalytic subunit gamma 2
ISO
associated with Glycogen Storage Disease Type Ix;DNA:mutations:multiple (human)
RGD
PMID:9384616
RGD:737725
NCBI chr 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124
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Phox2a
paired-like homeobox 2a
ISO
RGD
PMID:11600883
RGD:1599902
NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12963636 PMID:21866628
RGD:6482708
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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Pparg
peroxisome proliferator-activated receptor gamma
IMP ISO
associated with Hypertension
RGD
PMID:18360056 PMID:18511847
RGD:2301893 , RGD:2301856
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ptgs2
prostaglandin-endoperoxide synthase 2
IMP ISO
associated with Cholestasis CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11872629 PMID:18462380
RGD:2300279
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12414515
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Rhoa
ras homolog family member A
IEP
associated with Hypertension;protein:increased activation:heart
RGD
PMID:17184496
RGD:1642810
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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S1pr2
sphingosine-1-phosphate receptor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:37169277
NCBI chr 8:19,503,276...19,514,169
Ensembl chr 8:19,502,627...19,523,574
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Sfrp1
secreted frizzled-related protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30377735
NCBI chr16:68,575,763...68,614,180
Ensembl chr16:68,575,763...68,614,286
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20651248
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Sirt6
sirtuin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35798905
NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914
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Slc27a2
solute carrier family 27 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28871336
NCBI chr 3:113,804,728...113,842,208
Ensembl chr 3:113,804,728...113,842,208
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Socs3
suppressor of cytokine signaling 3
IEP
RGD
PMID:16012948
RGD:1625686
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19293248
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sod3
superoxide dismutase 3
ISO
RGD
PMID:11880297
RGD:1581266
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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Sphk1
sphingosine kinase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19657322
NCBI chr10:101,758,567...101,764,240
Ensembl chr10:101,758,711...101,764,240
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:15123578
RGD:1581343
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24448315
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stat6
signal transducer and activator of transcription 6
ISO
RGD
PMID:10486156
RGD:7829775
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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Tac1
tachykinin, precursor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28647476
NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
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Tgfb1
transforming growth factor, beta 1
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10469268 PMID:16306446 PMID:17947678 PMID:18705752 PMID:24142982 PMID:26054450 PMID:27870162 PMID:30809271 PMID:37436133 PMID:9389733 PMID:26923362 PMID:2054795 More...
RGD:737732 , RGD:11073665 , RGD:7394820
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Thbs1
thrombospondin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16005714
NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
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Thg1l
tRNA-histidine guanylyltransferase 1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21784897
NCBI chr10:30,387,929...30,396,579
Ensembl chr10:30,387,940...30,396,687
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Tlr4
toll-like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27585667
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18034274
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tph1
tryptophan hydroxylase 1
ISO
RGD
PMID:21518801
RGD:5686344
NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344
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Vim
vimentin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31697999
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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Aldh2
aldehyde dehydrogenase 2 family member
susceptibility
ISO
DNA:missense mutation:cds:p.E504K (human) DNA:missense mutation:cds: (rs671) (human) associated with alcohol dependence;DNA:missense mutation:exon 12:p.E487K (human)
RGD
PMID:29779728 PMID:23550892 PMID:11051375
RGD:14696777 , RGD:15042864 , RGD:15042858
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23274713
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23274713
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
protein:decreased expression:brain
RGD
PMID:16205370
RGD:6483345
NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720
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Col3a1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23274713
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Crp
C-reactive protein
severity
ISO
RGD
PMID:22441510
RGD:6482305
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20843640 PMID:29404441
RGD:14700873
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Ddr1
discoidin domain receptor tyrosine kinase 1
severity
ISO
mRNA:increased expression:liver (human)
RGD
PMID:33173221
RGD:151347691
NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
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Ddr2
discoidin domain receptor tyrosine kinase 2
disease_progression ameliorates
IEP IMP
RGD
PMID:21199726 PMID:23409069
RGD:150429766 , RGD:150517731
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Fabp2
fatty acid binding protein 2
onset
ISO
DNA:polymorphism:CDS:amino acid A54T, homozygosity of the T allele associated with later onset
RGD
PMID:16289894 PMID:16289894
RGD:1578455 , RGD:1578455
NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
susceptibility
ISO
DNA:SNP:intron 8:84435G>A (human)
RGD
PMID:19428381
RGD:402463950
NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346
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Il18bp
interleukin 18 binding protein
ISO
protein:increased expression:plasma:
RGD
PMID:15566508
RGD:14696666
NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23274713
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Jak2
Janus kinase 2
ISO
mRNA, protein:increased expression, increased tyrosine phosphorylation:liver
RGD
PMID:24619965
RGD:10403061
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Lep
leptin
IDA
DNA:hypomethylation:promoter (human)
RGD
PMID:29912265
RGD:21201248
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Mboat7
membrane bound O-acyltransferase domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26482880
NCBI chr 1:65,525,206...65,539,538
Ensembl chr 1:65,525,213...65,539,538
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Mir122
microRNA 122
ISO
miRNA:decreased expression:liver
RGD
PMID:28987423
RGD:14401600
NCBI chr18:58,758,703...58,758,787
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Mir141
microRNA 141
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332
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Mir17
microRNA 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
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Mir193b
microRNA 193b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr10:1,317,742...1,317,824
Ensembl chr10:1,317,742...1,317,824
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Mir423
microRNA 423
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226
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Mir484
microRNA 484
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr10:887,684...887,760
Ensembl chr10:887,684...887,760
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Mir532
microRNA 532
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
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Mir93
microRNA 93
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr12:17,043,135...17,043,221
Ensembl chr12:17,043,135...17,043,221
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Mmp13
matrix metallopeptidase 13
IEP
RGD
PMID:16286264
RGD:10043176
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23274713
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mpo
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19731237 PMID:23274713
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNP: :677C>T(human)
RGD
PMID:25987440
RGD:14696749
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Nr1d1
nuclear receptor subfamily 1, group D, member 1
ISO
RGD
PMID:24497272
RGD:10448995
NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705
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Plau
plasminogen activator, urokinase
IDA
RGD
PMID:19615318
RGD:7241800
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Pnpla3
patatin-like phospholipase domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19946271 PMID:26482880
NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23274713
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Serpine1
serpin family E member 1
susceptibility
ISO
DNA:polymorphism:promoter:
RGD
PMID:25987440
RGD:14696749
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
ISO
protein:increased expression:serum (human)
RGD
PMID:27748324
RGD:27226704
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Smad3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23274713
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Sod2
superoxide dismutase 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: : 47T>C(human)
CTD RGD
PMID:19731237 PMID:26873981
RGD:11060603
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Tg
thyroglobulin
ISO
RGD
PMID:6883738
RGD:401976502
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23274713
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Timp1
TIMP metallopeptidase inhibitor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23274713
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Tlr9
toll-like receptor 9
ISO
protein:increased expression:blood, neutrophil (human)
RGD
PMID:18433921
RGD:5130706
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tm6sf2
transmembrane 6 superfamily member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26482880
NCBI chr16:19,344,218...19,351,431
Ensembl chr16:19,344,222...19,351,431
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23274713
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Aqp4
aquaporin 4
ISO
RGD
PMID:20680636
RGD:5148026
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Edar
ectodysplasin-A receptor
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 More...
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Fanci
FA complementation group I
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:22189570 PMID:23524600 PMID:23783014 PMID:24033266 PMID:24086434 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 PMID:30634555 PMID:31655921 PMID:33486010 PMID:35478072 More...
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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Polg
DNA polymerase gamma, catalytic subunit
susceptibility
ISO IAGP
DNA:mutations:cds: ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.P1073L (3218C>T) (human) DNA:missense mutations:cds:
ClinVar CTD OMIM RGD
PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 PMID:2392416 PMID:2504279 PMID:2725645 PMID:7847370 PMID:9500334 PMID:9536098 PMID:11301032 PMID:11431686 PMID:11555352 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15800909 PMID:15824347 PMID:15913923 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16595552 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16682683 PMID:16715201 PMID:16857757 PMID:16896309 PMID:16919951 PMID:16929381 PMID:16940310 PMID:16943369 PMID:16957900 PMID:17067213 PMID:17088268 PMID:17280874 PMID:17310215 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17502560 PMID:17538929 PMID:17576681 PMID:17725985 PMID:17846414 PMID:17894835 PMID:17923349 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18446447 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19251978 PMID:19275594 PMID:19307547 PMID:19344718 PMID:19364868 PMID:19478085 PMID:19500334 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19837034 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20400524 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21301859 PMID:21305355 PMID:21357833 PMID:21447491 PMID:21455106 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21704543 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22084276 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22215559 PMID:22237560 PMID:22277967 PMID:22334187 PMID:22342071 PMID:22357363 PMID:22377773 PMID:22470557 PMID:22494076 PMID:22537151 PMID:22552686 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22778364 PMID:22805437 PMID:22863191 PMID:22931735 PMID:22933815 PMID:22980518 PMID:22987704 PMID:22995991 PMID:23066759 PMID:23077218 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23665194 PMID:23719791 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23830586 PMID:23836942 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24086434 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24194468 PMID:24259288 PMID:24265579 PMID:24266892 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24398692 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25065347 PMID:25118206 PMID:25129007 PMID:25193669 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25340760 PMID:25356970 PMID:25412673 PMID:25429852 PMID:25462018 PMID:25466440 PMID:25488682 PMID:25497598 PMID:25525159 PMID:25585994 PMID:25638290 PMID:25660390 PMID:25713120 PMID:25724872 PMID:25741868 PMID:25741916 PMID:25742477 PMID:25771874 PMID:25850945 PMID:25852747 PMID:25914719 PMID:25940035 PMID:26050231 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26554610 PMID:26557169 PMID:26607151 PMID:26640698 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27101133 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27349602 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27475922 PMID:27527004 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27826120 PMID:27838477 PMID:27843123 PMID:27917773 PMID:27987238 PMID:28074849 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28430993 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28815208 PMID:28837072 PMID:28865037 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29214156 PMID:29272804 PMID:29278894 PMID:29302508 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29644085 PMID:29655203 PMID:29712893 PMID:29913018 PMID:29915382 PMID:29920680 PMID:29950568 PMID:29992832 PMID:29997391 PMID:30009132 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30385167 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30552426 PMID:30609409 PMID:30634555 PMID:30637288 PMID:30678510 PMID:30755392 PMID:30818899 PMID:30831263 PMID:30838265 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31075681 PMID:31085725 PMID:31130284 PMID:31147703 PMID:31164858 PMID:31209396 PMID:31359948 PMID:31425757 PMID:31475037 PMID:31521625 PMID:31571979 PMID:31589614 PMID:31613174 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31694722 PMID:31731261 PMID:31762033 PMID:31980526 PMID:31996268 PMID:32005694 PMID:32019516 PMID:32042919 PMID:32161153 PMID:32165824 PMID:32234506 PMID:32305867 PMID:32347949 PMID:32348839 PMID:32364361 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32504279 PMID:32531456 PMID:32567010 PMID:32600829 PMID:32613234 PMID:32668698 PMID:32703289 PMID:32964447 PMID:33046616 PMID:33233646 PMID:33258288 PMID:33278787 PMID:33396418 PMID:33434755 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33600046 PMID:33671400 PMID:33683010 PMID:33726816 PMID:33791913 PMID:33956154 PMID:34008892 PMID:34052969 PMID:34062649 PMID:34189666 PMID:34194468 PMID:34426522 PMID:34670123 PMID:34690748 PMID:34777884 PMID:34782754 PMID:34927673 PMID:35101151 PMID:35114397 PMID:35186329 PMID:35289132 PMID:35307828 PMID:35350396 PMID:35478072 PMID:35488641 PMID:35598585 PMID:35641312 PMID:35699875 PMID:35760101 PMID:35799515 PMID:35811324 PMID:35861376 PMID:36065636 PMID:36325100 PMID:36332611 PMID:36403551 PMID:36689859 PMID:36703223 PMID:36987741 PMID:37184518 PMID:37189790 PMID:15689359 PMID:20142534 PMID:16896309 PMID:22237560 More...
RGD:8694184 , RGD:15039298 , RGD:8694317 , RGD:8694284
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Polrmt
RNA polymerase mitochondrial
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:25741868
NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791
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Ranbp2
RAN binding protein 2
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 More...
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Rlbp1
retinaldehyde binding protein 1
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532
NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
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Ace
angiotensin I converting enzyme
ISO
protein:increased expression:serum (human)
RGD
PMID:21290180
RGD:25671452
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Itgb3
integrin subunit beta 3
ISO
DNA:missense mutation: :p.L33P (human)
RGD
PMID:18685811
RGD:10755472
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)
RGD
PMID:18685811
RGD:10755472
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Serpine1
serpin family E member 1
susceptibility
ISO
DNA:polymorphism:promoter:
RGD
PMID:18685811
RGD:10755472
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Acacb
acetyl-CoA carboxylase beta
IEP
mRNA, protein:increased expression:heart (rat)
RGD
PMID:30644033
RGD:329955369
NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655
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Ace2
angiotensin converting enzyme 2
treatment
IEP
associated with Hypertension
RGD
PMID:21148624
RGD:9685434
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Ager
advanced glycosylation end product-specific receptor
treatment
IEP
associated with Diabetes Mellitus, Experimental; protein:increased expression:cardiac atrium (rat)
RGD
PMID:21802905 PMID:24630381
RGD:7245957 , RGD:8696003
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Ahr
aryl hydrocarbon receptor
treatment
IEP
RGD
PMID:23528973
RGD:401793732
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Arnt
aryl hydrocarbon receptor nuclear translocator
treatment
IEP
RGD
PMID:23528973
RGD:401793732
NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
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Azgp1
alpha-2-glycoprotein 1, zinc-binding
exacerbates
ISO
RGD
PMID:25788525
RGD:153350149
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
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Col1a1
collagen type I alpha 1 chain
treatment
IEP IDA
associated with Hypertension;mRNA:increased expression:heart protein:increased expression:blood serum (rat)
RGD
PMID:21769867 PMID:27318893 PMID:19019833
RGD:5688337 , RGD:156430318 , RGD:8552780
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col3a1
collagen type III alpha 1 chain
IEP
protein:increased expression:blood serum (rat)
RGD
PMID:27318893
RGD:156430318
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Cpt1a
carnitine palmitoyltransferase 1A
IEP
mRNA, protein:decreased expression:heart (rat)
RGD
PMID:30644033
RGD:329955369
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
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Csf3
colony stimulating factor 3
ISO
associated with Myocardial Infarction;
RGD
PMID:18676396
RGD:11039480
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
treatment
IEP
RGD
PMID:23528973
RGD:401793732
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
treatment
IEP
RGD
PMID:23528973
RGD:401793732
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Dmd
dystrophin
IMP
RGD
PMID:25310701
RGD:12880034
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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Dmdem1Ang
dystrophin; TALEN-induced mutant1, Ang
IMP
RGD
PMID:25310701
RGD:12880034
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Dsg2
desmoglein 2
disease_progression
ISO
RGD
PMID:21455723
RGD:401851067
NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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Dusp5
dual specificity phosphatase 5
IEP
mRNA,protein:decreased expression:cardiac muscle tissue (rat)
RGD
PMID:27318893
RGD:156430318
NCBI chr 1:252,538,408...252,555,320
Ensembl chr 1:252,538,449...252,551,818
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Edn1
endothelin 1
treatment
IDA
RGD
PMID:11430925
RGD:8662299
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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F3
coagulation factor III, tissue factor
ISO
RGD
PMID:12426405
RGD:11341691
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Fads1
fatty acid desaturase 1
treatment
IEP
RGD
PMID:22796714
RGD:401901592
NCBI chr 1:206,827,724...206,842,734
Ensembl chr 1:206,827,765...206,842,734
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Fads2
fatty acid desaturase 2
treatment
IMP IEP
RGD
PMID:24284026 PMID:22796714
RGD:401901245 , RGD:401901592
NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789
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Fbn1
fibrillin 1
IEP
associated with Hypertension;protein:increased expression:myocardium
RGD
PMID:15849235
RGD:1601147
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Fn1
fibronectin 1
IEP
mRNA, protein:increased expression:heart:
RGD
PMID:23383330
RGD:10402158
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Ghrl
ghrelin and obestatin prepropeptide
disease_progression treatment
IEP ISO
mRNA,protein:increased expression:plasma,myocardia:
RGD
PMID:16626506 PMID:16626506
RGD:12907503 , RGD:12907503
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
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Ghsr
growth hormone secretagogue receptor
IEP
mRNA,protein:increased expression,increased activity:myocardia:
RGD
PMID:16626506
RGD:12907503
NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
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Gja1
gap junction protein, alpha 1
IEP
protein:decreased expression:myocardium
RGD
PMID:23906405
RGD:8662459
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Gpx3
glutathione peroxidase 3
treatment
IEP
RGD
PMID:23528973
RGD:401793732
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Gsr
glutathione-disulfide reductase
treatment
IEP
RGD
PMID:23528973
RGD:401793732
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Gstm2
glutathione S-transferase mu 2
treatment
IEP
RGD
PMID:23528973
RGD:401793732
NCBI chr 2:195,624,015...195,628,774
Ensembl chr 2:195,544,426...195,628,961
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Gstm3
glutathione S-transferase mu 3
treatment
IEP
RGD
PMID:23528973
RGD:401793732
NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
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H19
H19 imprinted maternally expressed transcript
IEP
mRNA:increased expression:cardiac muscle tissue (rat)
RGD
PMID:27318893
RGD:156430318
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Hira
histone cell cycle regulator
disease_progression
ISO
RGD
PMID:26935106
RGD:11354650
NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
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Hrc
histidine rich calcium binding protein
severity
ISO
associated with Heart Failure
RGD
PMID:22952658
RGD:9685495
NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:95,813,253...95,816,984
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Kcnn4
potassium calcium-activated channel subfamily N member 4
ameliorates
IMP ISO
RGD
PMID:30563389 PMID:28455747
RGD:401700380 , RGD:401700389
NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
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Ltbp2
latent transforming growth factor beta binding protein 2
ISO
mRNA:increased expression:heart (mouse)
RGD
PMID:29950403
RGD:156451654
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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Map3k7
mitogen activated protein kinase kinase kinase 7
treatment
IEP ISO
associated with obesity;protein:increased phosphorylation:heart (mouse)
RGD
PMID:32543140 PMID:29143862
RGD:155791675 , RGD:155804300
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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Mfn2
mitofusin 2
IEP
protein:decreased expression:heart (rat)
RGD
PMID:26692091
RGD:11557238
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Mir221
microRNA 221
severity
ISO
associated with dilated cardiomyopathy;
RGD
PMID:29255073
RGD:18337269
NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573
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Mir222
microRNA 222
severity
ISO
associated with dilated cardiomyopathy;
RGD
PMID:27614440 PMID:29255073
RGD:151893489 , RGD:18337269
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
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Mir223
microRNA 223
treatment
IMP
associated with acute myocardial infarction;
RGD
PMID:29689569
RGD:25823140
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Mir30e
microRNA 30e
treatment
IEP
RGD
PMID:28777253
RGD:401827856
NCBI chr 5:134,352,232...134,352,323
Ensembl chr 5:134,352,232...134,352,323
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Mir433
microRNA 433
treatment
ISO
associated with myocardial infarction
RGD
PMID:27698941 PMID:27698941
RGD:14700802 , RGD:14700802
NCBI chr 6:128,545,119...128,545,211
Ensembl chr 6:128,545,112...128,545,217
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Mlycd
malonyl-CoA decarboxylase
IEP
protein:increased expression:heart (rat)
RGD
PMID:30644033
RGD:329955369
NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
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Mmp7
matrix metallopeptidase 7
IEP
associated with Heart Failure
RGD
PMID:12875773
RGD:9685341
NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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Mmp9
matrix metallopeptidase 9
ISO IEP
associated with Cardiomegaly;mRNA:increased expression:heart associated with Arthritis, Experimental
RGD
PMID:23144938 PMID:23905389
RGD:13204817 , RGD:13204857
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
IEP
RGD
PMID:23528973
RGD:401793732
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nfkbia
NFKB inhibitor alpha
treatment
IEP
associated with Hypertension
RGD
PMID:20231522
RGD:10413875
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Nod1
nucleotide-binding oligomerization domain containing 1
ISO
RGD
PMID:23028889
RGD:9831166
NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404
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Nono
non-POU domain containing, octamer-binding
ISO
RGD
PMID:31634484
RGD:155882450
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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Pak1
p21 (RAC1) activated kinase 1
ISO
RGD
PMID:22082674
RGD:11533929
NCBI chr 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383
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Plekha7
pleckstrin homology domain containing A7
ameliorates
IMP
compared to wild type
RGD
PMID:25136115 PMID:25136115
RGD:11079199 , RGD:11079199
NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775
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Plekha7em4Mcwi
pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin
ameliorates
IMP
compared to wild type
RGD
PMID:25136115 PMID:25136115
RGD:11079199 , RGD:11079199
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Prkaa2
protein kinase AMP-activated catalytic subunit alpha 2
IEP
protein:decreased expression:serum, heart (rat)
RGD
PMID:30644033
RGD:329955369
NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543
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Prkd1
protein kinase D1
treatment
ISO
associated with Cardiomegaly
RGD
PMID:25889640
RGD:290382408
NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042
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Robo1
roundabout guidance receptor 1
ameliorates
ISO
RGD
PMID:33236535
RGD:242905189
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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Serpine1
serpin family E member 1
treatment
IDA
associated with Metabolic Syndrome X
RGD
PMID:15604340
RGD:8547923
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Slc22a5
solute carrier family 22 member 5
treatment
IEP
RGD
PMID:22796714
RGD:401901592
NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
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Slit2
slit guidance ligand 2
ISO
protein:increased expression:left ventricle
RGD
PMID:33236535
RGD:242905189
NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
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Tgfb1
transforming growth factor, beta 1
ameliorates
ISO IEP
protein:increased expression:blood serum (rat) protein:increased expression:heart:
RGD
PMID:22134166 PMID:33236535 PMID:27318893 PMID:27108788
RGD:11073617 , RGD:242905189 , RGD:156430318 , RGD:11073667
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Ugcg
UDP-glucose ceramide glucosyltransferase
treatment
IEP
RGD
PMID:23528973
RGD:401793732
NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393
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Cd40lg
CD40 ligand
treatment
IDA
RGD
PMID:23820408
RGD:11352285
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Gstp1
glutathione S-transferase pi 1
IEP
RGD
PMID:22576464
RGD:10401932
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
severity
ISO
associated with intrahepatic cholangiocarcinoma; DNA:missense mutations:cds:p. R132C, R132G, and R132L (human)
RGD
PMID:31121195
RGD:14974230
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Mir192
microRNA 192
ISO
RNA:increased expression:urine
RGD
PMID:26456596
RGD:41404678
NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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Mir21
microRNA 21
ISO
RNA:increased expression:urine
RGD
PMID:26456596
RGD:41404678
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Scarring
ClinVar
PMID:12787275 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 PMID:32860008 PMID:35979658 More...
NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252
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Mfn2
mitofusin 2
ISO
ClinVar Annotator: match by term: Scarring
ClinVar
PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 PMID:17296794 PMID:19889647 PMID:20418531 PMID:21285398 PMID:21508331 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31130284 PMID:31188717 PMID:31832804 PMID:32376792 PMID:33475540 PMID:33841295 PMID:34366782 PMID:35938991 More...
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Mir494
microRNA 494
ameliorates
ISO
RGD
PMID:31069607
RGD:155900752
NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793
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Mmp9
matrix metallopeptidase 9
treatment
IDA
associated with Wounds, Penetrating
RGD
PMID:23076999
RGD:13207326
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Smad4
SMAD family member 4
treatment
IMP
RGD
PMID:21255090
RGD:12880045
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Ctnna1
catenin alpha 1
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
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Fgf21
fibroblast growth factor 21
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Kif21a
kinesin family member 21A
ISS ISO
OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, CONGENITAL
MouseDO ClinVar
PMID:14595441 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:24656932 PMID:25741868 PMID:28492532 More...
NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Mcm3ap
minichromosome maintenance complex component 3 associated protein
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165
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Myh10
myosin heavy chain 10
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165
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Nes
nestin
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777
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Tuba1a
tubulin, alpha 1A
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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Tuba1b
tubulin, alpha 1B
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr 7:130,090,663...130,093,644
Ensembl chr 7:130,081,032...130,196,186
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Tubb3
tubulin, beta 3 class III
ISS ISO
OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
MouseDO ClinVar
PMID:25741868
NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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Tubb5
tubulin, beta 5 class I
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940
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Kif21a
kinesin family member 21A
ISO
DNA:missense mutation:CDS:2860C>T (p.R954W) (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b | ClinVar Annotator: match by term: KIF21A-related condition
CTD ClinVar OMIM RGD
PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:24656932 PMID:25741868 PMID:28492532 PMID:14595441 More...
RGD:1600402
NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999
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Phox2a
paired-like homeobox 2a
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2
OMIM CTD ClinVar
PMID:11600883 PMID:25741868
NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118
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Tubb3
tubulin, beta 3 class III
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | ClinVar Annotator: match by term: TUBB3-Related Disorder | ClinVar Annotator: match by term: TUBB3-related condition | ClinVar Annotator: match by term: TUBB3-related tubulinopathy
OMIM CTD ClinVar
PMID:2133536 PMID:7724178 PMID:10393037 PMID:12073023 PMID:15223798 PMID:18414213 PMID:20074521 PMID:20301522 PMID:20829227 PMID:23378218 PMID:24257358 PMID:24612975 PMID:25131622 PMID:25482575 PMID:25741868 PMID:26639658 PMID:26775887 PMID:27046833 PMID:28492532 PMID:28677066 PMID:29269699 PMID:29382549 PMID:29453417 PMID:29706646 PMID:31219644 PMID:31226147 PMID:32573066 PMID:34652576 PMID:34863918 More...
NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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Col25a1
collagen type XXV alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5
OMIM CTD ClinVar
PMID:25500261 PMID:25741868 PMID:31875546
NCBI chr 2:218,755,152...219,154,348
Ensembl chr 2:218,755,691...219,153,501
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Ace
angiotensin I converting enzyme
IEP
associated with Polycystic Kidney, Autosomal Recessive;mRNA:increased expression:liver
RGD
PMID:20400910
RGD:2325215
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ifnl3
interferon, lambda 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28394349
NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
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Pkhd1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
ISO
DNA:mutations:cds:c.7994T>C, p.(Leu2665Pro),c.8518C>T, p.(Arg2840Cys)(human)
RGD
PMID:30600684 PMID:30507656
RGD:14700919 , RGD:14700992
NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNP: :-318C>T(human)
RGD
PMID:18049163
RGD:14398738
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Krt18
keratin 18
ISO
ClinVar Annotator: match by term: Cirrhosis, cryptogenic
ClinVar
PMID:9011570 PMID:12724528
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
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Krt8
keratin 8
ISO
ClinVar Annotator: match by term: Cirrhosis, cryptogenic
ClinVar
PMID:9011570 PMID:11372009 PMID:12724528 PMID:15235035 PMID:28492532 PMID:33116287 More...
NCBI chr 7:133,124,203...133,131,656
Ensembl chr 7:133,124,203...133,131,728
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Cav1
caveolin 1
ISO
RGD
PMID:18759267
RGD:8661773
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Serpine1
serpin family E member 1
treatment
ISO
RGD
PMID:26414805
RGD:11343779
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:21360510
RGD:8661691
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Abca3
ATP binding cassette subfamily A member 3
ISO
ClinVar Annotator: match by term: Diffuse interstitial pulmonary fibrosis
ClinVar
PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 PMID:18676873 PMID:22145626 PMID:22304854 PMID:22434821 PMID:22435821 PMID:22800827 PMID:22866751 PMID:23166334 PMID:23625987 PMID:24033266 PMID:24136335 PMID:24871971 PMID:25073622 PMID:25553246 PMID:25741868 PMID:27374344 PMID:27516224 PMID:28034695 PMID:28492532 PMID:29431110 PMID:29505158 PMID:29566461 PMID:30609409 PMID:30755392 PMID:31589614 PMID:31980526 PMID:32238781 PMID:32692933 PMID:33110422 PMID:33526094 PMID:34132118 PMID:34715861 PMID:35170262 PMID:35626240 More...
NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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A2m
alpha-2-macroglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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Aadac
arylacetamide deacetylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:144,163,436...144,186,086
Ensembl chr 2:144,135,319...144,174,734
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Aadat
aminoadipate aminotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:29,509,392...29,544,332
Ensembl chr16:29,509,394...29,544,332
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Abat
4-aminobutyrate aminotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16182555 PMID:17072980
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcc2
ATP binding cassette subfamily C member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcc5
ATP binding cassette subfamily C member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr11:80,473,809...80,567,257
Ensembl chr11:80,473,872...80,567,253
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Abcg1
ATP binding cassette subfamily G member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948
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Abcg5
ATP binding cassette subfamily G member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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Abcg8
ATP binding cassette subfamily G member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
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Ablim3
actin binding LIM protein family, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr18:55,256,135...55,376,629
Ensembl chr18:55,257,583...55,376,380
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Acat1
acetyl-CoA acetyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
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Acbd4
acyl-CoA binding domain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:88,048,058...88,062,612
Ensembl chr10:88,048,108...88,058,500
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Ace
angiotensin I converting enzyme
severity
IEP
mRNA: increased expression:liver (rat) protein:increased activity:plasma (human) mRNA:increased expression:liver (rat)
RGD
PMID:19424597 PMID:8445218 PMID:23663763 PMID:24035938
RGD:25671449 , RGD:25671458 , RGD:25671457 , RGD:21408579
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ace2
angiotensin converting enzyme 2
IEP
protein:increased expression:liver mRNA, protein:increased expression, increased activity:liver (rat)
RGD
PMID:19793108 PMID:16166274
RGD:2316776 , RGD:40818265
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Ache
acetylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16496349
NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
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Ackr3
atypical chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237
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Acot9
acyl-CoA thioesterase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr X:40,073,197...40,123,573
Ensembl chr X:40,064,810...40,123,559
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Acox2
acyl-CoA oxidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160
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Acp5
acid phosphatase 5, tartrate resistant
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929
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Acsl1
acyl-CoA synthetase long-chain family member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541
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Acta2
actin alpha 2, smooth muscle
ISO IEP
CTD Direct Evidence: marker/mechanism associated with Schistosomiasis Japonica; mRNA:increased expression:liver (rat)
CTD RGD
PMID:26435214 PMID:26739621 PMID:29323718
RGD:38599216
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Actn1
actinin, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:98,998,553...99,093,334
Ensembl chr 6:98,998,556...99,093,251
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Acvr2a
activin A receptor type 2A
IEP
mRNA:decreased expression:liver
RGD
PMID:12706302
RGD:2325237
NCBI chr 3:33,204,961...33,292,673
Ensembl chr 3:33,205,523...33,289,968
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Ada
adenosine deaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Adam17
ADAM metallopeptidase domain 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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Add3
adducin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124
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Adgre1
adhesion G protein-coupled receptor E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:2,242,476...2,398,000
Ensembl chr 9:2,242,474...2,398,000
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Adh1c
alcohol dehydrogenase 1C (class I), gamma polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:226,797,303...226,808,892
Ensembl chr 2:226,797,303...226,808,892
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Adh4
alcohol dehydrogenase 4 (class II), pi polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr 2:226,948,717...226,966,747
Ensembl chr 2:226,947,466...226,987,591
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Adhfe1
alcohol dehydrogenase, iron containing, 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:9,705,966...9,732,580
Ensembl chr 5:9,705,970...9,732,517
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:14724832
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adipor2
adiponectin receptor 2
severity
ISO
RGD
PMID:29237572
RGD:24922203
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
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Adm
adrenomedullin
IEP ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15370692 PMID:16610064 PMID:16713642
RGD:1625319
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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Adora2a
adenosine A2a receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16783407
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
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Adora3
adenosine A3 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:193,352,759...193,392,946
Ensembl chr 2:193,388,713...193,392,357
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Adra1b
adrenoceptor alpha 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:28,255,025...28,373,418
Ensembl chr10:28,255,025...28,312,919
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Adrb1
adrenoceptor beta 1
IEP
mRNA, protein:increased expression:liver
RGD
PMID:19785950
RGD:5129118
NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259
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Adrb2
adrenoceptor beta 2
IEP
mRNA, protein:increased expression:liver
RGD
PMID:19785950
RGD:5129118
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Adrb3
adrenoceptor beta 3
IEP
mRNA, protein:increased expression:liver
RGD
PMID:19785950
RGD:5129118
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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Aen
apoptosis enhancing nuclease
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:132,815,094...132,824,522
Ensembl chr 1:132,815,142...132,824,523
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Afm
afamin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:17,531,022...17,563,868
Ensembl chr14:17,531,024...17,563,870
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Afp
alpha-fetoprotein
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17072980 PMID:30346985
RGD:151665755
NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480
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Agfg1
ArfGAP with FG repeats 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:84,124,845...84,182,615
Ensembl chr 9:84,125,120...84,178,128
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Agl
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12667390
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12890498 PMID:25380136 PMID:24619965
RGD:10403061
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Ahnak
AHNAK nucleoprotein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:205,882,225...205,970,934
Ensembl chr 1:205,882,273...205,970,926
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Aida
axin interactor, dorsalization associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:94,940,311...94,967,920
Ensembl chr13:94,939,741...94,967,920
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Aif1
allograft inflammatory factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
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Akr1b1
aldo-keto reductase family 1 member B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
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Akr1c1
aldo-keto reductase family 1, member C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
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Akr1c3
aldo-keto reductase family 1, member C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
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AKR1C3l1
aldo-keto reductase family 1 member C3-like 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr17:65,847,580...65,881,488
Ensembl chr17:65,835,634...65,881,488
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Aktip
AKT interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr19:15,866,811...15,877,123
Ensembl chr19:15,866,928...15,886,663
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Alb
albumin
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16642209 PMID:17963606 PMID:21163135 PMID:30346985
RGD:151665755
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Aldh1a1
aldehyde dehydrogenase 1 family, member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr 1:218,000,470...218,152,962
Ensembl chr 1:218,042,127...218,152,961
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Aldh1b1
aldehyde dehydrogenase 1 family, member B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15650968 PMID:25380136
NCBI chr 5:60,063,370...60,068,378
Ensembl chr 5:60,063,225...60,068,378
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Aldh1l1
aldehyde dehydrogenase 1 family, member L1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15650968
NCBI chr 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465
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Aldh1l2
aldehyde dehydrogenase 1 family, member L2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:20,254,246...20,305,793
Ensembl chr 7:20,254,233...20,305,776
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Aldh2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15650968
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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Amacr
alpha-methylacyl-CoA racemase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
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Angpt1
angiopoietin 1
disease_progression
IEP
protein:increased expression:liver
RGD
PMID:17935226
RGD:1643338
NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
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Angpt2
angiopoietin 2
IEP
mRNA, protein:increased expression:multiple organs (rat)
RGD
PMID:18978178
RGD:2314174
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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Angptl3
angiopoietin-like 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:113,703,007...113,710,044
Ensembl chr 5:113,703,012...113,709,957
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Ano6
anoctamin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:126,933,919...127,113,588
Ensembl chr 7:126,933,936...127,113,589
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Anp32a
acidic nuclear phosphoprotein 32 family member A
treatment
ISO
RGD
PMID:19054144
RGD:10401133
NCBI chr 8:62,829,099...62,865,443
Ensembl chr 8:62,827,456...62,865,443
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Anxa1
annexin A1
IEP ISO
mRNA:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25380136 PMID:8755646
RGD:2306954
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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Anxa2
annexin A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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Anxa3
annexin A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:12,727,708...12,781,717
Ensembl chr14:12,719,795...12,781,617
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Anxa4
annexin A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:119,184,378...119,241,183
Ensembl chr 4:119,184,374...119,241,161
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Anxa5
annexin A5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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Ap1s2
adaptor related protein complex 1 subunit sigma 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr X:30,572,746...30,598,961
Ensembl chr X:30,572,751...30,597,262
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Ap3s1
adaptor related protein complex 3 subunit sigma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr18:39,462,728...39,531,622
Ensembl chr18:39,462,765...39,531,622
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Apaf1
apoptotic peptidase activating factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540
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Apbb1ip
amyloid beta precursor protein binding family B member 1 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:84,941,404...85,033,020
Ensembl chr17:84,982,243...85,033,010
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Apmap
adipocyte plasma membrane associated protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:139,409,021...139,437,296
Ensembl chr 3:139,409,022...139,437,341
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Apoa1
apolipoprotein A1
IDA
RGD
PMID:2123716
RGD:1599161
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoa4
apolipoprotein A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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Apobec1
apolipoprotein B mRNA editing enzyme catalytic subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390
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Apol9a
apolipoprotein L9a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:109,140,871...109,149,799
Ensembl chr 7:109,140,871...109,147,649
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App
amyloid beta precursor protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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Appl1
adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:2,118,503...2,166,741
Ensembl chr16:2,121,255...2,166,692
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Aqp7
aquaporin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642
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Arg1
arginase 1
IEP
mRNA, protein:decreased expression:liver (rat)
RGD
PMID:11931836
RGD:1626298
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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Arg2
arginase 2
IEP
mRNA, protein:increased expression:liver
RGD
PMID:11931836
RGD:1626298
NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
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Arhgap30
Rho GTPase activating protein 30
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:83,822,290...83,843,634
Ensembl chr13:83,822,283...83,854,885
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Arhgap9
Rho GTPase activating protein 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524
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Arhgdib
Rho GDP dissociation inhibitor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:169,822,951...169,841,884
Ensembl chr 4:169,822,952...169,841,658
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Arl11
ADP-ribosylation factor like GTPase 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr15:35,483,330...35,485,579
Ensembl chr15:35,480,018...35,496,596
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Arl8a
ADP-ribosylation factor like GTPase 8A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:46,585,845...46,594,851
Ensembl chr13:46,585,845...46,594,851
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Armcx1
armadillo repeat containing, X-linked 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr X:97,898,969...97,902,874
Ensembl chr X:97,898,883...97,903,299
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Arpc1b
actin related protein 2/3 complex, subunit 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747
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Arrb2
arrestin, beta 2
ISO IEP
CTD Direct Evidence: marker/mechanism protein:increased expression:aorta
CTD RGD
PMID:25380136 PMID:17256744
RGD:1625784
NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
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Asah1
N-acylsphingosine amidohydrolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
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Asns
asparagine synthetase (glutamine-hydrolyzing)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423
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Aspn
asporin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
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Ass1
argininosuccinate synthase 1
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:19914391
RGD:4140452
NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
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Atf3
activating transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:102,751,278...102,800,520
Ensembl chr13:102,751,321...102,764,631
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Atp10d
ATPase phospholipid transporting 10D (putative)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:35,911,728...36,012,549
Ensembl chr14:35,912,141...36,012,564
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Atp6v1d
ATPase H+ transporting V1 subunit D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:97,656,725...97,672,295
Ensembl chr 6:97,656,576...97,672,303
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Atrn
attractin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:118,110,320...118,244,326
Ensembl chr 3:118,110,229...118,244,322
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Axl
Axl receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
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B2m
beta-2 microglobulin
IEP
protein:increased expression:urine
RGD
PMID:18777138
RGD:6482712
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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B4galt5
beta-1,4-galactosyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:156,018,056...156,033,983
Ensembl chr 3:156,018,053...156,070,074
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B9d1
B9 domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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Bak1
BCL2-antagonist/killer 1
IEP
mRNA:increased expression:liver
RGD
PMID:11232245
RGD:2315709
NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264
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Bbox1
gamma-butyrobetaine hydroxylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:96,822,654...96,871,786
Ensembl chr 3:96,822,655...96,871,458
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Bcl2
BCL2, apoptosis regulator
treatment
IDA IEP
mRNA:increased expression:liver (rat)
RGD
PMID:24218972 PMID:17938867
RGD:10054116 , RGD:2293129
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcr
BCR activator of RhoGEF and GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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Bdh1
3-hydroxybutyrate dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr11:69,302,534...69,343,173
Ensembl chr11:69,302,534...69,337,671
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Bgn
biglycan
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
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Bicd2
BICD cargo adaptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
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Birc3
baculoviral IAP repeat-containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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Birc5
baculoviral IAP repeat-containing 5
IEP
RGD
PMID:17938867
RGD:2293129
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Bloc1s2
biogenesis of lysosomal organelles complex-1, subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:243,024,611...243,031,749
Ensembl chr 1:243,024,614...243,031,653
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Blvra
biliverdin reductase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:114,340,778...114,366,048
Ensembl chr 3:114,340,838...114,366,033
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Bmf
Bcl2 modifying factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:105,499,534...105,520,159
Ensembl chr 3:105,499,538...105,520,145
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Bmp4
bone morphogenetic protein 4
IEP
mRNA, protein:increased expression:liver
RGD
PMID:16447265
RGD:1643229
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Bmp7
bone morphogenetic protein 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17127702
NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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C11h3orf70
similar to human chromosome 3 open reading frame 70
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr11:79,345,857...79,396,140
Ensembl chr11:79,345,304...79,396,142
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C13h1orf21
similar to human chromosome 1 open reading frame 21
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:63,982,587...64,199,676
Ensembl chr13:63,990,592...64,199,596
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C1qa
complement C1q A chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
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C1qb
complement C1q B chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407
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C1qc
complement C1q C chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
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C5ar1
complement C5a receptor 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25380136 PMID:15995705
RGD:1600592
NCBI chr 1:76,948,622...76,959,826
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C5h1orf210
similar to human chromosome 1 open reading frame 210
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:132,048,755...132,051,913
Ensembl chr 5:132,048,773...132,051,925
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C7
complement C7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:54,088,116...54,165,102
Ensembl chr 2:54,088,116...54,158,535
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C8g
complement C8 gamma chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:8,320,503...8,322,087
Ensembl chr 3:8,305,920...8,323,495
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C8h11orf54
similar to human chromosome 11 open reading frame 54
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:12,123,839...12,146,412
Ensembl chr 8:12,123,823...12,146,473
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Camk2d
calcium/calmodulin-dependent protein kinase II delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:215,023,785...215,287,351
Ensembl chr 2:215,024,004...215,286,178
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Capg
capping actin protein, gelsolin like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:104,594,743...104,611,856
Ensembl chr 4:104,594,753...104,611,856
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Car3
carbonic anhydrase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr 2:86,770,418...86,780,011
Ensembl chr 2:86,770,420...86,784,280
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Car5a
carbonic anhydrase 5A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906
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Casp1
caspase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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Casp12
caspase 12
IEP ISO
protein:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25380136 PMID:16092975
RGD:2311470
NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
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Casp4
caspase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:2,599,017...2,635,097
Ensembl chr 8:2,598,876...2,635,092
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Casp7
caspase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729
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Cav1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Ccdc126
coiled-coil domain containing 126
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:78,297,625...78,318,655
Ensembl chr 4:78,297,551...78,318,655
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Ccl2
C-C motif chemokine ligand 2
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism human gene in rat model
CTD RGD
PMID:15492853 PMID:19144177 PMID:28437891 PMID:15492853
RGD:2307001 , RGD:14995945 , RGD:8549576
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl5
C-C motif chemokine ligand 5
treatment disease_progression severity
ISO
CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression:liver
CTD RGD
PMID:25380136 PMID:22574195 PMID:25617348 PMID:20978355 PMID:20978355
RGD:14995337 , RGD:14995329 , RGD:14995328 , RGD:14995328
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccl7
C-C motif chemokine ligand 7
IEP
RGD
PMID:17719030
RGD:6483766
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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Ccl9
C-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:68,366,486...68,371,408
Ensembl chr10:68,366,487...68,371,369
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Ccn2
cellular communication network factor 2
IEP ISO
mRNA:increased expression:liver (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25380136 PMID:19856102
RGD:2314367
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Ccn4
cellular communication network factor 4
IEP
RGD
PMID:24600972
RGD:10003105
NCBI chr 7:98,645,238...98,677,253
Ensembl chr 7:98,645,182...98,677,248
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Ccna2
cyclin A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:119,427,239...119,433,645
Ensembl chr 2:119,426,089...119,433,577
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Ccnb2
cyclin B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:71,087,594...71,100,794
Ensembl chr 8:71,087,595...71,100,874
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Ccng1
cyclin G1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641
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Ccr5
C-C motif chemokine receptor 5
treatment
ISO
mRNA,protein:increased expression:liver
RGD
PMID:19603542 PMID:19603542
RGD:14401743 , RGD:14401743
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd163
CD163 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd200r1
CD200 receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr11:55,886,937...55,921,217
Ensembl chr11:55,887,717...55,921,285
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Cd24
CD24 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:47,074,353...47,079,662
Ensembl chr20:47,073,512...47,079,662
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Cd276
Cd276 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:58,937,751...58,968,082
Ensembl chr 8:58,937,751...58,968,380
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Cd36
CD36 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cd38
CD38 molecule
IEP ISO
mRNA, protein:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25380136 PMID:16343077
RGD:2307239
NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
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Cd48
Cd48 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:84,184,884...84,209,144
Ensembl chr13:84,185,532...84,209,142
G
Cd53
Cd53 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:194,352,139...194,399,668
Ensembl chr 2:194,352,139...194,399,657
G
Cd5l
Cd5 molecule-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:172,791,007...172,802,018
Ensembl chr 2:172,790,934...172,829,753
G
Cd63
Cd63 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:1,325,108...1,340,447
Ensembl chr 7:1,325,103...1,399,178
G
Cd68
Cd68 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
G
Cd7
Cd7 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:106,304,046...106,306,963
Ensembl chr10:106,304,056...106,306,967
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Cd74
CD74 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr18:54,256,757...54,266,003
Ensembl chr18:54,256,778...54,266,003
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Cd83
CD83 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:20,887,309...20,907,009
Ensembl chr17:20,887,309...20,907,083
G
Cd86
CD86 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
G
Cdc42se1
CDC42 small effector 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:182,805,691...182,813,520
Ensembl chr 2:182,804,925...182,814,028
G
Cdh1
cadherin 1
IEP
associated with Schistosomiasis Japonica; mRNA:decreased expression:liver (rat)
RGD
PMID:29323718
RGD:38599216
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cdh5
cadherin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
G
Cdk1
cyclin-dependent kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:19,266,226...19,281,417
Ensembl chr20:19,266,248...19,281,408
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Cdk2
cyclin dependent kinase 2
IEP
RGD
PMID:16534847
RGD:2289284
NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403
G
Cdk4
cyclin-dependent kinase 4
IEP
RGD
PMID:16534847
RGD:2289284
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
G
Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
G
Cdkn2aipnl
CDKN2A interacting protein N-terminal like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:36,231,134...36,240,569
Ensembl chr10:36,231,087...36,240,564
G
Cdkn3
cyclin-dependent kinase inhibitor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr15:20,022,522...20,033,948
Ensembl chr15:20,022,664...20,033,945
G
Cdo1
cysteine dioxygenase type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr18:39,432,473...39,447,253
Ensembl chr18:39,432,474...39,447,296
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Cebpd
CCAAT/enhancer binding protein delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr11:84,764,670...84,765,808
Ensembl chr11:84,764,565...84,765,829
G
Cela1
chymotrypsin like elastase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr 7:131,773,161...131,786,300
Ensembl chr 7:131,742,002...131,786,285
G
Celf2
CUGBP, Elav-like family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:70,904,462...71,729,072
Ensembl chr17:71,210,853...71,728,333
G
Cemip2
cell migration inducing hyaluronidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:219,330,295...219,407,760
Ensembl chr 1:219,337,985...219,407,760
G
Cerk
ceramide kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:117,225,855...117,269,436
Ensembl chr 7:117,225,855...117,268,759
G
Ces2h
carboxylesterase 2H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr19:32,974,242...32,988,842
Ensembl chr19:32,974,242...32,988,830
G
Ces3a
carboxylesterase 3a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr19:32,992,386...33,000,562
G
Cfd
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
G
Cfp
complement factor properdin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr X:1,162,014...1,167,576
Ensembl chr X:1,161,979...1,167,573
G
Chsy1
chondroitin sulfate synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:119,689,626...119,750,711
Ensembl chr 1:119,686,350...119,750,601
G
Cidea
cell death-inducing DFFA-like effector a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr18:60,894,917...60,920,485
Ensembl chr18:60,894,874...60,920,481
G
Cklf
chemokine-like factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr19:698,097...706,570
Ensembl chr19:698,033...706,570
G
Clec4a1
C-type lectin domain family 4, member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:156,173,894...156,186,009
Ensembl chr 4:156,173,894...156,186,008
G
Clec4a3
C-type lectin domain family 4, member A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:156,214,030...156,224,818
Ensembl chr 4:156,214,718...156,224,817
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Clec4f
C-type lectin domain family 4, member F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:116,129,023...116,138,744
Ensembl chr 4:116,129,023...116,138,775
G
Clic1
chloride intracellular channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712
G
Clic2
chloride intracellular channel 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
G
Clp1
cleavage factor polyribonucleotide kinase subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:69,806,774...69,818,633
Ensembl chr 3:69,806,778...69,810,421
G
Cmtm3
CKLF-like MARVEL transmembrane domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr19:622,563...630,721
Ensembl chr19:604,458...629,790
G
Cndp1
carnosine dipeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765
G
Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720
G
Cnpy4
canopy FGF signaling regulator 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr12:17,064,642...17,070,755
Ensembl chr12:17,064,642...17,070,043
G
Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17043671
NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
G
Col12a1
collagen type XII alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
G
Col1a1
collagen type I alpha 1 chain
treatment
IEP ISO IDA IMP
protein:increased expression:liver CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:liver (rat)
CTD RGD
PMID:25380136 PMID:26435214 PMID:26739621 PMID:16009107 PMID:30346985 PMID:22706148 PMID:23958495 PMID:20818932 More...
RGD:1601595 , RGD:151665755 , RGD:8552768 , RGD:8552710 , RGD:5688339
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
G
Col1a2
collagen type I alpha 2 chain
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25380136 PMID:7512265
RGD:7257544
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
G
Col3a1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11788567 PMID:25380136
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
G
Col4a1
collagen type IV alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
G
Col4a2
collagen type IV alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
G
Col5a1
collagen type V alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
G
Col5a2
collagen type V alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154
G
Col6a1
collagen type VI alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
G
Col6a2
collagen type VI alpha 2 chain
IEP ISO
Protein:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25380136 PMID:7791542
RGD:1600938
NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
G
Colec12
collectin sub-family member 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr18:732,950...920,620
Ensembl chr18:732,950...920,618
G
Coq10a
coenzyme Q10A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:792,089...798,392
Ensembl chr 7:792,089...800,161
G
Cotl1
coactosin-like F-actin binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr19:47,871,689...47,906,010
Ensembl chr19:47,871,694...47,911,689
G
Cpq
carboxypeptidase Q
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:64,264,025...64,830,867
Ensembl chr 7:64,264,081...64,724,546
G
Cps1
carbamoyl-phosphate synthase 1
IEP ISO
mRNA:decreased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15650968 PMID:17539997
RGD:2303515
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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Creb1
cAMP responsive element binding protein 1
IMP
associated with Chemical and Drug Induced Liver Injury
RGD
PMID:27279449
RGD:401960093
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
G
Crot
carnitine O-octanoyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:25,068,270...25,133,111
Ensembl chr 4:25,080,587...25,133,109
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Crp
C-reactive protein
IEP
protein:decreased expression:serum:
RGD
PMID:21806828
RGD:9491781
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
Crtap
cartilage associated protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:114,047,929...114,067,636
Ensembl chr 8:114,047,933...114,067,631
G
Cry1
cryptochrome circadian regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:18,529,823...18,594,092
Ensembl chr 7:18,529,823...18,594,091
G
Cryab
crystallin, alpha B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
G
Csad
cysteine sulfinic acid decarboxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr 7:133,308,571...133,337,914
Ensembl chr 7:133,308,574...133,337,615
G
Csf1r
colony stimulating factor 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15661404
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Csgalnact1
chondroitin sulfate N-acetylgalactosaminyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:20,995,210...21,330,586
Ensembl chr16:21,235,784...21,330,319
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Ctse
cathepsin E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:43,091,954...43,114,509
Ensembl chr13:43,092,128...43,114,502
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Ctss
cathepsin S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483
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Ctsz
cathepsin Z
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:163,224,875...163,235,645
Ensembl chr 3:163,224,875...163,235,645
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Cttnbp2nl
CTTNBP2 N-terminal like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:192,507,963...192,554,548
Ensembl chr 2:192,507,963...192,541,101
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Cxadr
CXADR, Ig-like cell adhesion molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr11:16,982,864...17,030,078
Ensembl chr11:16,982,860...17,030,046
G
Cxcl1
C-X-C motif chemokine ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl12
C-X-C motif chemokine ligand 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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Cxcl13
C-X-C motif chemokine ligand 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:13,608,894...13,613,965
Ensembl chr14:13,608,902...13,613,933
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Cxcl16
C-X-C motif chemokine ligand 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:55,166,721...55,171,316
Ensembl chr10:55,166,723...55,171,592
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Cxcl3
C-X-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Cyba
cytochrome b-245 alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
G
Cybb
cytochrome b-245 beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
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Cygb
cytoglobin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16581302
NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
G
Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
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Cyp26a1
cytochrome P450, family 26, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:235,471,368...235,475,204
Ensembl chr 1:235,471,298...235,475,204
G
Cyp2a2
cytochrome P450, family 2, subfamily a, polypeptide 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:82,263,833...82,289,487
Ensembl chr 1:82,263,833...82,289,487
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Cyp2c11
cytochrome P450, subfamily 2, polypeptide 11
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:236,762,719...236,799,069
Ensembl chr 1:236,762,842...236,799,066
G
Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
G
Cyp2t1
cytochrome P450, family 2, subfamily t, polypeptide 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:82,446,321...82,451,564
Ensembl chr 1:82,446,921...82,451,563
G
Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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Cyp7a1
cytochrome P450 family 7 subfamily A member 1
treatment
IMP
RGD
PMID:15521018
RGD:15045602
NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
G
Cyria
CYFIP related Rac1 interactor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:35,045,208...35,150,669
Ensembl chr 6:35,045,208...35,150,668
G
Cyrib
CYFIP related Rac1 interactor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:95,633,876...95,760,588
Ensembl chr 7:95,633,876...95,697,686
G
Cystm1
cysteine-rich transmembrane module containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr18:27,945,862...28,013,509
Ensembl chr18:27,951,653...28,013,510
G
Dag1
dystroglycan 1
IEP
mRNA:increased expression:liver
RGD
PMID:12177244
RGD:2314895
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
G
Dao
D-amino-acid oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr12:42,592,342...42,613,046
Ensembl chr12:42,592,343...42,612,741
G
Dbh
dopamine beta-hydroxylase
IEP
mRNA:decreased expression:superior mesenteric artery (rat)
RGD
PMID:18457899
RGD:5129683
NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
G
Dbndd2
dysbindin domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:153,216,300...153,220,651
Ensembl chr 3:153,191,090...153,220,651
G
Dcxr
dicarbonyl and L-xylulose reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:106,006,404...106,008,293
G
Ddc
dopa decarboxylase
IEP ISO
mRNA:decreased expression:superior mesenteric artery (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25380136 PMID:18457899
RGD:5129683
NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
G
Depdc7
DEP domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:91,099,111...91,121,152
Ensembl chr 3:91,099,835...91,121,124
G
Dhrs3
dehydrogenase/reductase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:156,747,939...156,782,420
Ensembl chr 5:156,747,962...156,782,417
G
Dhrs7
dehydrogenase/reductase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:91,332,259...91,347,856
Ensembl chr 6:91,251,323...91,347,892
G
Dhtkd1
dehydrogenase E1 and transketolase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723
G
Dio1
iodothyronine deiodinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr 5:122,074,285...122,090,983
Ensembl chr 5:122,074,279...122,090,970
G
Dipk2a
divergent protein kinase domain 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:95,070,695...95,089,815
Ensembl chr 8:95,030,279...95,089,815
G
Dock10
dedicator of cytokinesis 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:81,843,599...82,101,540
Ensembl chr 9:81,843,604...82,101,525
G
Dock7
dedicator of cytokinesis 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:113,599,371...113,782,871
Ensembl chr 5:113,600,198...113,782,813
G
Dpp7
dipeptidylpeptidase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355
G
Dpys
dihydropyrimidinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231
G
Dram1
DNA-damage regulated autophagy modulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:22,742,794...22,776,888
Ensembl chr 7:22,742,849...22,776,765
G
Dus1l
dihydrouridine synthase 1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:106,055,519...106,062,656
Ensembl chr10:106,055,519...106,062,781
G
Dusp16
dual specificity phosphatase 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:167,546,780...167,630,173
Ensembl chr 4:167,548,155...167,629,980
G
Dusp6
dual specificity phosphatase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:34,092,848...34,097,186
Ensembl chr 7:34,092,943...34,097,185
G
Dysf
dysferlin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
G
Ece1
endothelin converting enzyme 1
IEP
protein:increased expression:liver
RGD
PMID:16170464
RGD:7243952
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
G
Ect2
epithelial cell transforming 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:109,975,813...110,037,911
Ensembl chr 2:109,975,813...110,037,911
G
Edn1
endothelin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12609069
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
G
Eeig2
EEIG family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:196,608,499...196,663,371
Ensembl chr 2:196,608,499...196,663,371
G
Egf
epidermal growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
G
Eif4e3
eukaryotic translation initiation factor 4E family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:132,258,502...132,301,808
Ensembl chr 4:132,258,502...132,301,808
G
Elovl5
ELOVL fatty acid elongase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:78,790,846...78,857,307
Ensembl chr 8:78,790,846...78,857,284
G
Emb
embigin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:49,070,509...49,125,042
Ensembl chr 2:49,069,087...49,125,050
G
Emp1
epithelial membrane protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:168,212,901...168,233,039
Ensembl chr 4:168,212,861...168,232,904
G
Enc1
ectodermal-neural cortex 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:28,550,670...28,562,591
Ensembl chr 2:28,550,464...28,562,713
G
Enpep
glutamyl aminopeptidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:217,781,985...217,851,947
Ensembl chr 2:217,782,005...217,851,947
G
Enpp2
ectonucleotide pyrophosphatase/phosphodiesterase 2
treatment
IEP ISO
protein:increased activity:serum: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17072980 PMID:17850827 PMID:20957682
RGD:9685426 , RGD:9685427
NCBI chr 7:86,202,345...86,325,050
Ensembl chr 7:86,202,350...86,324,827
G
Entpd2
ectonucleoside triphosphate diphosphohydrolase 2
IEP
RGD
PMID:15651265
RGD:9685530
NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
G
Epb41l2
erythrocyte membrane protein band 4.1-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:19,863,010...20,037,795
Ensembl chr 1:19,863,009...20,037,721
G
Epcam
epithelial cell adhesion molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:6,880,142...6,896,103
Ensembl chr 6:6,878,237...6,896,127
G
Erap1
endoplasmic reticulum aminopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447
G
Ern1
endoplasmic reticulum to nucleus signaling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30538632
NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029
G
Extl1
exostosin-like glycosyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:146,573,911...146,589,115
Ensembl chr 5:146,573,912...146,589,115
G
Ezr
ezrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:46,967,961...47,011,505
Ensembl chr 1:46,967,658...47,011,505
G
F2r
coagulation factor II (thrombin) receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870
G
F5
coagulation factor V
treatment
IEP
RGD
PMID:17431769
RGD:7394781
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
G
Fabp2
fatty acid binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089
G
Fabp7
fatty acid binding protein 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr20:37,123,193...37,126,725
Ensembl chr20:37,123,193...37,126,880
G
Fahd1
fumarylacetoacetate hydrolase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012
G
Fam167b
family with sequence similarity 167, member B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:141,920,695...141,922,342
Ensembl chr 5:141,920,695...141,922,340
G
Fam43a
family with sequence similarity 43, member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr11:70,128,253...70,131,401
Ensembl chr11:70,128,253...70,131,401
G
Fam89a
family with sequence similarity 89, member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr19:52,710,002...52,722,630
Ensembl chr19:52,710,019...52,722,631
G
Fas
Fas cell surface death receptor
IEP ISO
mRNA, protein:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30737368 PMID:17105443
RGD:2290284
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Fat1
FAT atypical cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
G
Fbn1
fibrillin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
G
Fbxo9
f-box protein 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:78,958,482...78,984,015
Ensembl chr 8:78,958,483...78,983,949
G
Fcer1g
Fc epsilon receptor Ig
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:83,649,447...83,654,248
Ensembl chr13:83,649,449...83,671,443
G
Fcgr1a
Fc gamma receptor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994
G
Fcgr3a
Fc gamma receptor 3A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
G
Fcnb
ficolin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:11,393,713...11,402,198
Ensembl chr 3:11,393,739...11,402,151
G
Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16116963
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
G
Fgfr1
Fibroblast growth factor receptor 1
treatment
IMP
RGD
PMID:21543745
RGD:25440477
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
G
Fgg
fibrinogen gamma chain
IEP
mRNA:increased expression
RGD
PMID:17054587
RGD:1599810
NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
G
Fgl2
fibrinogen-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:13,710,566...13,716,207
Ensembl chr 4:13,710,575...13,716,207
G
Fgr
FGR proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:145,189,814...145,219,571
Ensembl chr 5:145,189,841...145,217,326
G
Fhl1
four and a half LIM domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
G
Fhl2
four and a half LIM domains 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:45,388,979...45,462,421
Ensembl chr 9:45,388,981...45,431,192
G
Fkbp1a
FKBP prolyl isomerase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743
G
Fli1
Fli-1 proto-oncogene, ETS transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
G
Flna
filamin A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
G
Fmnl1
formin-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:88,115,876...88,143,342
Ensembl chr10:88,116,009...88,143,357
G
Fmnl2
formin-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:37,348,791...37,624,746
Ensembl chr 3:37,348,574...37,624,754
G
Fmo1
flavin containing dimethylaniline monoxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr13:75,182,184...75,214,439
Ensembl chr13:75,182,176...75,214,647
G
Fn1
fibronectin 1
treatment
IEP IMP
mRNA:increased expression:liver: mRNA:altered expression:liver (rat)
RGD
PMID:19914391 PMID:15980055
RGD:4140452 , RGD:1625201
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
G
Folr2
folate receptor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:156,200,044...156,218,380
Ensembl chr 1:156,200,060...156,205,724
G
Fos
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
G
Foxa2
forkhead box A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:135,470,123...135,474,326
Ensembl chr 3:135,470,131...135,474,326
G
Foxo1
forkhead box O1
IEP
associated with Schistosomiasis Japonica; mRNA:decreased expression:liver (rat)
RGD
PMID:29323718
RGD:38599216
NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
G
Fry
FRY microtubule binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr12:4,493,890...4,887,118
Ensembl chr12:4,493,891...4,799,116
G
Fstl1
follistatin-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677
G
Ftcd
formimidoyltransferase cyclodeaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
G
Fxyd2
FXYD domain-containing ion transport regulator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203
G
Fxyd5
FXYD domain-containing ion transport regulator 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:86,267,937...86,277,329
Ensembl chr 1:86,267,406...86,277,519
G
Fxyd6
FXYD domain-containing ion transport regulator 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958
G
Fyn
FYN proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911
G
Fzd8
frizzled class receptor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:57,312,924...57,320,551
Ensembl chr17:57,314,450...57,320,650
G
G0s2
G0/G1switch 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:104,806,351...104,807,263
Ensembl chr13:104,806,156...104,807,451
G
G6pc1
glucose-6-phosphatase catalytic subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804
G
Gab1
GRB2-associated binding protein 1
ISO
protein:increased tyrosine phosphorylation: :
RGD
PMID:25617348
RGD:14995329
NCBI chr19:27,131,262...27,239,236
Ensembl chr19:27,131,262...27,239,236
G
Galc
galactosylceramidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830
G
Gask1b
golgi associated kinase 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:165,047,689...165,112,479
Ensembl chr 2:165,047,684...165,112,477
G
Gbp2
guanylate binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:231,332,488...231,348,573
Ensembl chr 2:231,332,284...231,348,571
G
Gbp4
guanylate binding protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:231,304,910...231,318,883
Ensembl chr 2:231,305,244...231,318,879
G
Gc
GC, vitamin D binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
G
Gcat
glycine C-acetyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:110,595,126...110,601,474
Ensembl chr 7:110,595,091...110,601,473
G
Gchfr
GTP cyclohydrolase I feedback regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:106,158,046...106,162,080
Ensembl chr 3:106,159,394...106,162,080
G
Gck
glucokinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
G
Gcnt1
glucosaminyl (N-acetyl) transferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:214,718,344...214,755,735
Ensembl chr 1:214,718,293...214,758,776
G
Get1
guided entry of tail-anchored proteins factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr11:35,438,555...35,460,156
Ensembl chr11:35,445,815...35,459,973
G
Gfap
glial fibrillary acidic protein
IEP
associated with Schistosomiasis Japonica; mRNA:decreased expression:liver (rat)
RGD
PMID:29323718
RGD:38599216
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
G
Gfra1
GDNF family receptor alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
G
Ggh
gamma-glutamyl hydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:33,529,880...33,552,790
Ensembl chr 5:33,529,880...33,552,787
G
Ggta1
glycoprotein alpha-galactosyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:18,732,985...18,824,916
Ensembl chr 3:18,732,991...18,809,908
G
Gh1
growth hormone 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15334695
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
G
Ghr
growth hormone receptor
IEP ISO
mRNA, protein:decreased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17072980 PMID:25380136 PMID:12679928
RGD:2307378
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
G
Gja1
gap junction protein, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
G
Gja4
gap junction protein, alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925
G
Gk
glycerol kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr X:50,162,089...50,238,707
Ensembl chr X:50,163,123...50,238,631
G
Glipr1
GLI pathogenesis-related 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:47,487,342...47,498,974
Ensembl chr 7:47,487,345...47,498,429
G
Gls
glutaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
G
Gls2
glutaminase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426
G
Glt8d1
glycosyltransferase 8 domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:6,192,269...6,207,227
Ensembl chr16:6,192,300...6,207,229
G
Gmfg
glia maturation factor, gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:83,728,797...83,739,189
Ensembl chr 1:83,728,776...83,739,183
G
Gna14
G protein subunit alpha 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423
G
Gnai2
G protein subunit alpha i2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
G
Gngt2
G protein subunit gamma transducin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:80,776,003...80,784,235
G
Gnpda1
glucosamine-6-phosphate deaminase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr18:30,165,435...30,177,462
Ensembl chr18:30,165,427...30,177,486
G
Got1
glutamic-oxaloacetic transaminase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633
G
Gpam
glycerol-3-phosphate acyltransferase, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639
G
Gpnmb
glycoprotein nmb
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:78,010,247...78,031,491
Ensembl chr 4:78,010,197...78,049,367
G
Gpr68
G protein-coupled receptor 68
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089
G
Gpt
glutamic--pyruvic transaminase
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17072980 PMID:22706148
RGD:8552768
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
G
Gpx8
glutathione peroxidase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:44,676,448...44,680,042
Ensembl chr 2:44,676,454...44,680,195
G
Grk2
G protein-coupled receptor kinase 2
IEP
protein:increased expression:aorta
RGD
PMID:17256744
RGD:1625784
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
G
Grn
granulin precursor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
G
Gsn
gelsolin
IEP ISO
mRNA, protein:increased expression CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25380136 PMID:14574581
RGD:1599866
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
G
Gsta2
glutathione S-transferase alpha 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr 8:79,184,535...79,196,827
Ensembl chr 8:79,184,322...79,196,798
G
Gsta4
glutathione S-transferase alpha 4
treatment
IDA
RGD
PMID:23075396
RGD:9685568
NCBI chr 8:79,066,967...79,084,193
Ensembl chr 8:79,066,934...79,084,182
G
Gstm1
glutathione S-transferase mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15650968
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstp3
glutathione S-transferase pi 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:201,355,682...201,358,216
Ensembl chr 1:201,355,682...201,358,330
G
Gulp1
GULP PTB domain containing engulfment adaptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:46,622,699...46,899,005
Ensembl chr 9:46,622,669...46,899,005
G
Gzma
granzyme A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:44,740,569...44,752,502
Ensembl chr 2:44,740,569...44,752,493
G
Hagh
hydroxyacyl glutathione hydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504
G
Hal
histidine ammonia lyase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:28,007,449...28,037,701
Ensembl chr 7:28,006,972...28,037,701
G
Hao1
hydroxyacid oxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:121,757,400...121,828,721
Ensembl chr 3:121,771,836...121,828,721
G
Hao2
hydroxyacid oxidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr 2:186,200,137...186,232,997
Ensembl chr 2:186,200,504...186,224,425
G
Hck
HCK proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:141,571,587...141,614,696
Ensembl chr 3:141,571,587...141,614,693
G
Hells
helicase, lymphoid specific
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:236,701,704...236,748,239
Ensembl chr 1:236,701,758...236,746,844
G
Hexim1
HEXIM P-TEFb complex subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:88,062,808...88,064,920
Ensembl chr10:88,062,803...88,066,189
G
Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10677585 PMID:12918455 PMID:15793283 PMID:16465399 PMID:16627068 PMID:17714472 PMID:18637143 More...
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
G
Hip1
huntingtin interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr12:21,133,364...21,267,796
Ensembl chr12:21,133,406...21,267,725
G
Hjv
hemojuvelin BMP co-receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850
G
Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
G
Hmgn5b
high mobility group nucleosome binding domain 5B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:117,222,188...117,224,158
Ensembl chr 1:117,222,298...117,223,587
G
Hmox1
heme oxygenase 1
IDA ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:16025519 PMID:16610050 PMID:21163135 PMID:25380136 PMID:19554654
RGD:4145305
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Hopx
HOP homeobox
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:31,055,912...31,082,909
Ensembl chr14:31,075,148...31,082,909
G
Hoxa3
homeobox A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:81,269,243...81,313,218
Ensembl chr 4:81,269,243...81,313,218
G
Hp
haptoglobin
IEP
protein:increased expression:serum protein:decreased expression:serum
RGD
PMID:16968543 PMID:21806828
RGD:1626367 , RGD:9491781
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Hpcal1
hippocalcin-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:40,478,206...40,584,721
Ensembl chr 6:40,478,208...40,584,687
G
Hpgds
hematopoietic prostaglandin D synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:94,368,426...94,397,931
Ensembl chr 4:94,373,342...94,397,883
G
Hpse
heparanase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15095483 PMID:18458672
NCBI chr14:8,896,593...8,937,011
Ensembl chr14:8,896,593...8,937,010
G
Hsd17b2
hydroxysteroid (17-beta) dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr19:45,753,576...45,825,203
Ensembl chr19:45,753,574...45,825,202
G
Hsd17b6
hydroxysteroid (17-beta) dehydrogenase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr 7:422,466...442,008
Ensembl chr 7:422,480...442,425
G
Htr2b
5-hydroxytryptamine receptor 2B
IEP
protein:increased expression:liver (rat)
RGD
PMID:16936262
RGD:9743846
NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
G
Hykk
hydroxylysine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:55,315,919...55,339,720
Ensembl chr 8:55,315,969...55,337,339
G
Icam2
intercellular adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:91,308,608...91,319,536
Ensembl chr10:91,308,538...91,315,293
G
Id2
inhibitor of DNA binding 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17127702
NCBI chr 6:41,740,556...41,742,393
Ensembl chr 6:41,728,946...41,744,400
G
Id4
inhibitor of DNA binding 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:16,389,387...16,391,956
Ensembl chr17:16,389,387...16,392,470
G
Ido1
indoleamine 2,3-dioxygenase 1
severity
ISO
protein:increased expression:serum (mouse)
RGD
PMID:28465467 PMID:28465467
RGD:39939037 , RGD:39939037
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
G
Idua
alpha-L-iduronidase
IEP
protein:increased expression:liver
RGD
PMID:6875476
RGD:12910840
NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522
G
Ifi35
interferon-induced protein 35
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:86,381,023...86,389,279
Ensembl chr10:86,381,010...86,389,952
G
Ifitm1
interferon induced transmembrane protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:196,067,163...196,069,169
Ensembl chr 1:196,067,963...196,069,169
G
Ifna1
interferon, alpha 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12898905 PMID:14512876 PMID:16027843
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic protein:increased expression:serum (mouse)
CTD RGD
PMID:12389079 PMID:15996030 PMID:16953842 PMID:17347453 PMID:28465467
RGD:39939037
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Ifngr1
interferon gamma receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
G
Ifrd1
interferon-related developmental regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:57,269,395...57,317,833
Ensembl chr 6:57,269,384...57,288,990
G
Igf1
insulin-like growth factor 1
treatment
ISO IMP IEP
CTD Direct Evidence: therapeutic protein:increased expression:liver:
CTD RGD
PMID:15591519 PMID:15745444 PMID:16434425 PMID:20198635 PMID:12800242
RGD:2317647 , RGD:12904923 , RGD:10045984
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Igf1r
insulin-like growth factor 1 receptor
IEP
protein:increased expression:liver:
RGD
PMID:12800242
RGD:10045984
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
G
Igf2bp3
insulin-like growth factor 2 mRNA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:78,060,494...78,195,007
Ensembl chr 4:78,060,494...78,194,865
G
Igf2r
insulin-like growth factor 2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
G
Igfals
insulin-like growth factor binding protein, acid labile subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
G
Igfbp1
insulin-like growth factor binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr14:82,047,415...82,052,482
Ensembl chr14:82,047,415...82,052,482
G
Igfbp2
insulin-like growth factor binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937
G
Igfbp3
insulin-like growth factor binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
G
Igfbp7
insulin-like growth factor binding protein 7
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25380136 PMID:25691930
RGD:401976485
NCBI chr14:30,737,414...30,797,317
Ensembl chr14:30,737,164...30,797,314
G
Igsf6
immunoglobulin superfamily, member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:175,610,167...175,620,662
Ensembl chr 1:175,610,167...175,620,722
G
Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30737368
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
G
Il10
interleukin 10
treatment
IDA ISO IMP
CTD Direct Evidence: therapeutic
CTD RGD
PMID:12632514 PMID:15362042 PMID:16097045 PMID:16126171 PMID:16539848 PMID:16552806 PMID:16609999 PMID:16688825 PMID:18251166 PMID:23980370 PMID:24993843 More...
RGD:7364982 , RGD:11049490
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il17a
interleukin 17A
treatment
ISO IEP
protein:increased expression:liver, serum (mouse)
RGD
PMID:28465467 PMID:30346985
RGD:39939037 , RGD:151665755
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il17ra
interleukin 17 receptor A
treatment
IEP
RGD
PMID:30346985
RGD:151665755
NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
G
Il17rc
interleukin 17 receptor C
treatment
IEP
RGD
PMID:30346985
RGD:151665755
NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442
G
Il18
interleukin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il18bp
interleukin 18 binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
G
Il1b
interleukin 1 beta
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16085334 PMID:24383550
RGD:10450610
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il2
interleukin 2
treatment
IEP
RGD
PMID:30346985
RGD:151665755
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Il2rb
interleukin 2 receptor subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
G
Il2rg
interleukin 2 receptor subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr X:66,395,330...66,399,026
Ensembl chr X:66,392,542...66,399,823
G
Il33
interleukin 33
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Il4
interleukin 4
ISO
protein:decreased expression:serum (mouse)
RGD
PMID:28465467
RGD:39939037
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Il6
interleukin 6
treatment
IEP ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:24383550 PMID:30346985 PMID:28465467
RGD:10450610 , RGD:151665755 , RGD:39939037
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Il7r
interleukin 7 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
G
Ilk
integrin-linked kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16941698
NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140
G
Inhbc
inhibin subunit beta C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:63,184,141...63,197,630
Ensembl chr 7:63,184,142...63,197,630
G
Inhbe
inhibin subunit beta E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr 7:63,176,221...63,179,209
Ensembl chr 7:63,176,219...63,179,172
G
Inmt
indolethylamine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:84,318,197...84,322,493
Ensembl chr 4:84,318,197...84,322,493
G
Inpp5d
inositol polyphosphate-5-phosphatase D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:88,287,680...88,392,748
Ensembl chr 9:88,287,677...88,392,746
G
Inppl1
inositol polyphosphate phosphatase-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500
G
Ins2
insulin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26806094
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
G
Insig2
insulin induced gene 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:32,472,390...32,500,139
Ensembl chr13:32,473,742...32,494,923
G
Iqgap1
IQ motif containing GTPase activating protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:134,679,581...134,769,776
Ensembl chr 1:134,679,586...134,769,755
G
Irf8
interferon regulatory factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
G
Isg20
interferon stimulated exonuclease gene 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:132,829,303...132,837,027
Ensembl chr 1:132,815,123...132,837,027
G
Isyna1
inositol-3-phosphate synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:18,839,143...18,841,979
Ensembl chr16:18,839,145...18,841,979
G
Itga2b
integrin subunit alpha 2b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
G
Itgal
integrin subunit alpha L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:181,918,183...181,955,735
Ensembl chr 1:181,918,183...181,955,732
G
Itgb1
integrin subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
G
Itgb2
integrin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
G
Itgb3
integrin subunit beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
G
Itgb6
integrin subunit beta 6
IMP ISO
mRNA, protein:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18221819 PMID:18538673
RGD:2302244
NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
G
Ivd
isovaleryl-CoA dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575
G
Iyd
iodotyrosine deiodinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:40,003,999...40,019,323
Ensembl chr 1:40,004,041...40,019,319
G
Jak2
Janus kinase 2
IEP ISO
protein:increased expression, increased tyrosine phosphorylation:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25380136 PMID:24619965
RGD:10403061
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
G
Jdp2
Jun dimerization protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:105,261,619...105,302,386
Ensembl chr 6:105,261,373...105,301,485
G
Kank1
KN motif and ankyrin repeat domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
G
Kcnj8
potassium inwardly-rectifying channel, subfamily J, member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603
G
Kcnn4
potassium calcium-activated channel subfamily N member 4
exacerbates
ISO IEP
mRNA:increased expression:liver (rat)
RGD
PMID:27354175 PMID:27354175
RGD:329955558 , RGD:329955558
NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
G
Klf6
KLF transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:64,539,456...64,548,451
Ensembl chr17:64,531,463...64,588,570
G
Kmo
kynurenine 3-monooxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:87,557,080...87,589,334
Ensembl chr13:87,557,286...87,588,881
G
Kng1
kininogen 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18054572
NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
G
Krt18
keratin 18
ISO IEP
CTD Direct Evidence: marker/mechanism protein:increased expression:liver, plasma membrane (rat)
CTD RGD
PMID:15999547 PMID:17072980 PMID:18395095 PMID:25380136 PMID:21138630
RGD:27226809
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
G
Krt19
keratin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799
G
Krt8
keratin 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr 7:133,124,203...133,131,656
Ensembl chr 7:133,124,203...133,131,728
G
Ktn1
kinectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr15:20,913,665...21,002,588
Ensembl chr15:20,914,642...21,002,578
G
Kynu
kynureninase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
G
L3hypdh
trans-L-3-hydroxyproline dehydratase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:90,636,310...90,647,106
Ensembl chr 6:90,636,310...90,647,106
G
Laptm5
lysosomal protein transmembrane 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:143,087,759...143,109,807
Ensembl chr 5:143,087,759...143,109,807
G
Lbh
LBH regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:22,569,238...22,593,056
Ensembl chr 6:22,568,834...22,593,079
G
Lbp
lipopolysaccharide binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586
G
Lcn2
lipocalin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
G
Lcp1
lymphocyte cytosolic protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr15:50,443,300...50,544,682
Ensembl chr15:50,488,149...50,544,680
G
Lcp2
lymphocyte cytosolic protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:18,642,600...18,689,562
Ensembl chr10:18,642,658...18,689,559
G
Ldhb
lactate dehydrogenase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:175,428,382...175,446,403
Ensembl chr 4:175,428,385...175,446,403
G
Lefty2
Left-right determination factor 2
ameliorates
ISO
RGD
PMID:34887753
RGD:401794438
NCBI chr13:92,610,185...92,620,918
Ensembl chr13:92,615,360...92,619,880
G
Lep
leptin
disease_progression
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12586293 PMID:16097051 PMID:29248466 PMID:19065677 PMID:20509998
RGD:5128713 , RGD:5128589
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Lepr
leptin receptor
IEP
protein:increased expression:serum
RGD
PMID:23886859
RGD:10412036
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Lgals1
galectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345
G
Lgals2
galectin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:110,403,171...110,410,046
Ensembl chr 7:110,403,173...110,404,802
G
Lgals3
galectin 3
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16549783 PMID:25380136 PMID:12646584 PMID:16549783
RGD:9685223 , RGD:9685224
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
G
Lgalsl
galectin-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:94,996,991...95,004,499
Ensembl chr14:94,996,990...95,004,980
G
Lgmn
legumain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:121,544,048...121,582,495
Ensembl chr 6:121,544,053...121,582,480
G
Lhfpl6
LHFPL tetraspan subfamily member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:137,126,485...137,324,442
Ensembl chr 2:137,126,509...137,324,443
G
Limk2
LIM domain kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:78,208,182...78,286,106
Ensembl chr14:78,218,063...78,286,007
G
Lin7a
lin-7 homolog A, crumbs cell polarity complex component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:42,586,704...42,742,609
Ensembl chr 7:42,586,719...42,730,550
G
Lmo2
LIM domain only 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:90,355,234...90,377,970
Ensembl chr 3:90,365,883...90,377,953
G
Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
G
Loxl2
lysyl oxidase-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067
G
Lpl
lipoprotein lipase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
G
Lpxn
leupaxin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:209,928,297...209,963,085
Ensembl chr 1:209,929,202...209,963,084
G
Lrat
lecithin retinol acyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
G
Lrp6
LDL receptor related protein 6
ISO
RGD
PMID:18006602
RGD:4110127
NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497
G
Lrrc28
leucine rich repeat containing 28
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:121,116,833...121,245,805
Ensembl chr 1:121,127,733...121,245,784
G
Lrrfip1
LRR binding FLII interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:91,592,032...91,720,250
Ensembl chr 9:91,643,197...91,720,250
G
Lta4h
leukotriene A4 hydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:27,969,796...28,001,600
Ensembl chr 7:27,969,789...28,001,600
G
Ltb
lymphotoxin beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:3,627,536...3,629,381
Ensembl chr20:3,627,537...3,629,381
G
Ltbp1
latent transforming growth factor beta binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:20,029,629...20,425,339
Ensembl chr 6:20,029,629...20,425,349
G
Lum
lumican
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:32,358,990...32,365,794
Ensembl chr 7:32,358,614...32,365,793
G
Lurap1l
leucine rich adaptor protein 1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:95,362,005...95,409,439
Ensembl chr 5:95,362,005...95,409,438
G
Ly86
lymphocyte antigen 86
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:27,415,807...27,499,695
Ensembl chr17:27,415,830...27,487,260
G
Ly96
lymphocyte antigen 96
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386
G
Magee1
MAGE family member E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr X:70,189,242...70,192,789
Ensembl chr X:70,189,187...70,192,810
G
Map1lc3a
microtubule-associated protein 1 light chain 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
G
Map3k8
mitogen-activated protein kinase kinase kinase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:53,382,908...53,403,216
Ensembl chr17:53,383,131...53,403,216
G
Mapk1
mitogen activated protein kinase 1
treatment
IEP
RGD
PMID:27396351
RGD:13800880
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
G
Mapk3
mitogen activated protein kinase 3
treatment
IEP
RGD
PMID:27396351
RGD:13800880
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
G
Mas1
MAS1 proto-oncogene, G protein-coupled receptor
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:19793108
RGD:2316776
NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
G
Mdh1
malate dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925
G
Meox2
mesenchyme homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:53,856,760...53,917,467
Ensembl chr 6:53,856,758...53,917,467
G
Met
MET proto-oncogene, receptor tyrosine kinase
IEP
protein:decreased expression:liver (rat)
RGD
PMID:16958060
RGD:2317516
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
G
Metrnl
meteorin-like, glial cell differentiation regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:106,963,880...106,977,875
Ensembl chr10:106,963,880...106,977,869
G
Mfap4
microfibril associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:46,167,158...46,170,176
Ensembl chr10:46,167,217...46,170,155
G
Mfn2
mitofusin 2
treatment
IEP
mRNA, protein:decreased expression:liver (rat)
RGD
PMID:26882442 PMID:25369251
RGD:12910839 , RGD:13204798
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
G
Mgat5
alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23798564
NCBI chr13:38,675,776...38,959,697
Ensembl chr13:38,676,119...38,959,513
G
Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
G
Mgp
matrix Gla protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
G
Mid1ip1
MID1 interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr X:12,060,993...12,063,318
Ensembl chr X:12,060,883...12,065,774
G
Mif
macrophage migration inhibitory factor
IEP
protein:increased expression:hepatocyte
RGD
PMID:14706927
RGD:1642000
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
G
Mindy3
MINDY lysine 48 deubiquitinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:75,545,286...75,623,884
Ensembl chr17:75,545,286...75,623,854
G
Mir122
microRNA 122
treatment
ISO
RGD
PMID:28987423
RGD:14401600
NCBI chr18:58,758,703...58,758,787
G
Mir152
microRNA 152
treatment
ISO IEP
miRNA:decreased expression:liver
RGD
PMID:26257392 PMID:31258681
RGD:19165150 , RGD:19165153
NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020
G
Mir17
microRNA 17
treatment
IEP
RGD
PMID:28177765
RGD:329403059
NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
G
Mir182
microRNA 182
IEP
associated with Schistosomiasis Japonica; mRNA:increased expression:liver (rat)
RGD
PMID:29323718
RGD:38599216
NCBI chr 4:58,784,818...58,784,879
Ensembl chr 4:58,784,818...58,784,879
G
Mir223
microRNA 223
ISO
RNA:increased expression:liver RNA:increased expression:serum,liver
RGD
PMID:32003753 PMID:28646120 PMID:31295147
RGD:21408545 , RGD:21408574 , RGD:21408548
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
G
Mir30a
microRNA 30a
treatment
IDA
RGD
PMID:29587268
RGD:35673290
NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
G
Mis12
MIS12 kinetochore complex component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:55,739,741...55,747,915
Ensembl chr10:55,739,564...55,751,068
G
Mki67
marker of proliferation Ki-67
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
G
Mme
membrane metallo-endopeptidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16085334
NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
G
Mmp1
matrix metallopeptidase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12557150
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
G
Mmp13
matrix metallopeptidase 13
treatment
IDA ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:17404313 PMID:10623612
RGD:10043161
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
G
Mmp15
matrix metallopeptidase 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr19:9,663,449...9,684,943
Ensembl chr19:9,663,449...9,684,943
G
Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15095483 PMID:25380136
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp3
matrix metallopeptidase 3
IEP
RGD
PMID:17094476
RGD:2325929
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
G
Mmp8
matrix metallopeptidase 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15057751
NCBI chr 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520
G
Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15095483
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Mnda
myeloid cell nuclear differentiation antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:86,017,888...86,035,556
Ensembl chr13:86,017,892...86,034,201
G
Mob3a
MOB kinase activator 3A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:9,010,490...9,027,888
Ensembl chr 7:9,010,587...9,027,879
G
Mro
maestro
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr18:67,450,186...67,467,593
Ensembl chr18:67,450,595...67,467,044
G
Msn
moesin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr X:60,996,043...61,064,011
Ensembl chr X:60,995,951...61,065,628
G
Mt-cyb
mitochondrially encoded cytochrome b
IEP
protein:increased expression:mitochondrion, liver
RGD
PMID:2836123
RGD:2298972
NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
G
Mt1
metallothionein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049 Ensembl chr17:10,826,032...10,827,049
G
Mt2A
metallothionein 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
G
Mtmr7
myotubularin related protein 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:51,641,267...51,732,212
Ensembl chr16:51,641,190...51,732,182
G
Mtor
mechanistic target of rapamycin kinase
treatment
IEP
RGD
PMID:25454463
RGD:10040998
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
G
Mvp
major vault protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
G
Myadm
myeloid-associated differentiation marker
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:65,864,180...65,874,701
Ensembl chr 1:65,864,173...65,874,035
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
G
Myl9
myosin light chain 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:145,281,943...145,288,333
Ensembl chr 3:145,281,937...145,288,333
G
Myo1c
myosin 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:60,498,372...60,520,752
Ensembl chr10:60,498,280...60,520,752
G
Myo1f
myosin IF
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:14,363,340...14,413,911
Ensembl chr 7:14,363,350...14,413,911
G
Myo5a
myosin VA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
G
Myoc
myocilin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
G
Nagk
N-acetylglucosamine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:116,281,179...116,293,870
Ensembl chr 4:116,281,328...116,313,137
G
Nap1l5
nucleosome assembly protein 1-like 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:88,022,670...88,024,988
Ensembl chr 4:88,022,569...88,024,654
G
Nat8
N-acetyltransferase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:118,279,521...118,284,671
Ensembl chr 4:118,270,954...118,281,763
G
Nbea
neurobeachin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:139,780,021...140,338,639
Ensembl chr 2:139,780,021...140,340,584
G
Nckap1l
NCK associated protein 1 like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:134,577,470...134,622,928
Ensembl chr 7:134,577,482...134,622,934
G
Ncor2
nuclear receptor co-repressor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319
G
Ndrg1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
G
Ndrg2
NDRG family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr15:24,600,981...24,609,621
Ensembl chr15:24,600,982...24,609,626
G
Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
G
Nek6
NIMA-related kinase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:22,284,269...22,356,302
Ensembl chr 3:22,284,279...22,395,990
G
Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23341968
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
G
Nfkbia
NFKB inhibitor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26806094
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
G
Nfkbie
NFKB inhibitor epsilon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:15,443,600...15,450,437
Ensembl chr 9:15,436,941...15,450,437
G
Nfkbiz
NFKB inhibitor zeta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr11:44,782,676...44,810,722
Ensembl chr11:44,782,676...44,810,723
G
Nhsl3
NHS like 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:141,564,399...141,593,154
Ensembl chr 5:141,564,399...141,593,176
G
Nid1
nidogen 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:86,085,133...86,158,272
Ensembl chr17:86,085,077...86,158,267
G
Nid2
nidogen 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr15:4,458,082...4,513,808
Ensembl chr15:4,458,084...4,513,843
G
Nipal2
NIPA-like domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:65,774,477...65,884,807
Ensembl chr 7:65,774,477...65,884,807
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Nlrc5
NLR family, CARD domain containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26806094
NCBI chr19:10,477,638...10,581,023
Ensembl chr19:10,477,628...10,562,121
G
Nmi
N-myc (and STAT) interactor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:36,415,607...36,439,716
Ensembl chr 3:36,415,607...36,439,498
G
Noct
nocturnin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:135,271,189...135,291,407
Ensembl chr 2:135,271,189...135,291,400
G
Nos2
nitric oxide synthase 2
IEP ISO
mRNA:increased expression:aorta CTD Direct Evidence: therapeutic mRNA:increased expression:heart
CTD RGD
PMID:18380797 PMID:10353629 PMID:10784593
RGD:2325278 , RGD:2325265
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Nos3
nitric oxide synthase 3
IEP ISO
protein:decreased expression:spleen CTD Direct Evidence: marker/mechanism protein:decreased expression:liver
CTD RGD
PMID:18555214 PMID:17481668 PMID:17918268
RGD:2292140 , RGD:2292126
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Nox4
NADPH oxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406
G
Npas2
neuronal PAS domain protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:41,463,361...41,642,322
Ensembl chr 9:41,463,830...41,642,320
G
Npdc1
neural proliferation, differentiation and control, 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866
G
Nqo2
N-ribosyldihydronicotinamide:quinone dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320
G
Nr0b2
nuclear receptor subfamily 0, group B, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609
G
Nr1h4
nuclear receptor subfamily 1, group H, member 4
treatment
IMP IEP
mRNA:altered expression:liver (rat) associated with portal hypertension;mRNA;decreased expression;liver (rat)
RGD
PMID:27993716 PMID:15980055 PMID:24259407
RGD:14701034 , RGD:1625201 , RGD:15045598
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
G
Nrep
neuronal regeneration related protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr18:25,017,069...25,046,593
Ensembl chr18:25,017,083...25,046,591
G
Nrg1
neuregulin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
G
Nrros
negative regulator of reactive oxygen species
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr11:68,628,641...68,646,152
Ensembl chr11:68,628,712...68,646,142
G
Nsmf
NMDA receptor synaptonuclear signaling and neuronal migration factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614
G
Nt5e
5' nucleotidase, ecto
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18263696
NCBI chr 8:89,271,046...89,314,918
Ensembl chr 8:89,270,696...89,314,881
G
Nudt16
nudix hydrolase 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:105,739,927...105,741,982
Ensembl chr 8:105,739,623...105,741,998
G
Nupr1
nuclear protein 1, transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:181,213,292...181,215,327
Ensembl chr 1:181,213,368...181,215,281
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Oat
ornithine aminotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682
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Obp3
alpha-2u globulin PGCL4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr 5:74,842,316...74,845,858
Ensembl chr 5:74,842,316...74,845,757
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Ogg1
8-oxoguanine DNA glycosylase
treatment
IEP
RGD
PMID:23053977
RGD:8657403
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Olfml2b
olfactomedin-like 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:82,869,414...82,906,607
Ensembl chr13:82,869,433...82,906,607
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Olfml3
olfactomedin-like 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:191,244,221...191,247,050
Ensembl chr 2:191,244,221...191,247,050
G
Olr59
olfactory receptor 59
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:157,193,051...157,227,707
Ensembl chr 1:157,193,080...157,211,179
G
Osgin1
oxidative stress induced growth inhibitor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr19:47,471,750...47,500,517
Ensembl chr19:47,492,171...47,500,516
G
Osm
oncostatin M
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17640959
NCBI chr14:79,103,638...79,108,500
Ensembl chr14:79,104,344...79,108,313
G
Otc
ornithine transcarbamylase
IEP ISO
protein:decreased activity:liver (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25380136 PMID:7865721
RGD:4144080
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
G
Otub2
OTU deubiquitinase, ubiquitin aldehyde binding 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:122,545,067...122,563,657
Ensembl chr 6:122,545,061...122,563,644
G
Otulinl
OTU deubiquitinase with linear linkage specificity like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:78,405,994...78,433,860
Ensembl chr 2:78,408,593...78,433,838
G
Palmd
palmdelphin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:204,889,526...204,941,355
Ensembl chr 2:204,889,533...204,941,519
G
Pamr1
peptidase domain containing associated with muscle regeneration 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:88,889,061...88,988,615
Ensembl chr 3:88,889,046...88,988,606
G
Paqr9
progestin and adipoQ receptor family member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:96,114,249...96,116,546
G
Pc
pyruvate carboxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380
G
Pck1
phosphoenolpyruvate carboxykinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
G
Pck2
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283
G
Pdgfa
platelet derived growth factor subunit A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
G
Pdgfra
platelet derived growth factor receptor alpha
treatment
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25380136 PMID:17382907
RGD:11080969
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
G
Pdgfrb
platelet derived growth factor receptor beta
treatment
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15623374 PMID:18466260 PMID:15077122 PMID:18466260
RGD:2292206 , RGD:10449503
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
G
Pdxk
pyridoxal kinase
IEP
protein:decreased expression:brain
RGD
PMID:3225873
RGD:2303021
NCBI chr20:10,210,276...10,232,314
Ensembl chr20:10,210,289...10,232,110
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Pdzrn3
PDZ domain containing RING finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:133,770,736...133,996,959
Ensembl chr 4:133,770,736...133,996,959
G
Pea15
proliferation and apoptosis adaptor protein 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:84,657,815...84,667,437
Ensembl chr13:84,654,870...84,667,499
G
Pfkp
phosphofructokinase, platelet
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:63,729,743...63,794,026
Ensembl chr17:63,729,780...63,794,018
G
Pfn1
profilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631
G
Pgf
placental growth factor
disease_progression
IEP ISO
RGD
PMID:17935226 PMID:21520176
RGD:1643338 , RGD:6483607
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
G
Pkd2
polycystin 2, transient receptor potential cation channel
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
G
Pklr
pyruvate kinase L/R
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
G
Pla2g12a
phospholipase A2, group XIIA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:218,436,497...218,452,742
Ensembl chr 2:218,436,513...218,452,740
G
Pla2g4a
phospholipase A2 group 4A
IEP ISO
protein:increased activity:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25380136 PMID:17459512
RGD:1642445
NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
G
Plac8
placenta associated 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:9,052,601...9,074,264
Ensembl chr14:9,063,048...9,074,264
G
Plat
plasminogen activator, tissue type
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25380136 PMID:20035854
RGD:6484134
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
G
Plau
plasminogen activator, urokinase
treatment
IDA ISO IEP IMP
CTD Direct Evidence: marker/mechanism protein:increased expression:liver (rat)
CTD RGD
PMID:25380136 PMID:20035854 PMID:20035854 PMID:23018346 PMID:16958060
RGD:6484134 , RGD:6484134 , RGD:7241553 , RGD:2317516
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
G
Pld4
phospholipase D family, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:131,818,860...131,827,457
Ensembl chr 6:131,818,860...131,826,376
G
Plek
pleckstrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:91,397,015...91,429,693
Ensembl chr14:91,397,019...91,454,131
G
Plekhb1
pleckstrin homology domain containing B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:154,998,798...155,013,094
Ensembl chr 1:154,998,800...155,016,142
G
Plekhh1
pleckstrin homology, MyTH4 and FERM domain containing H1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:97,839,288...97,888,712
Ensembl chr 6:97,839,288...97,888,709
G
Plg
plasminogen
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:14716496
NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
G
Plin2
perilipin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:101,156,648...101,211,738
Ensembl chr 5:101,154,411...101,242,319
G
Plin3
perilipin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:1,111,178...1,123,057
Ensembl chr 9:1,102,366...1,123,147
G
Plod2
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
G
Plpp2
phospholipid phosphatase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:10,175,918...10,184,032
Ensembl chr 7:10,175,948...10,184,071
G
Plscr1
phospholipid scramblase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:92,784,279...92,804,698
Ensembl chr 8:92,784,356...92,804,692
G
Pltp
phospholipid transfer protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647
G
Pmepa1
prostate transmembrane protein, androgen induced 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:162,011,884...162,060,343
Ensembl chr 3:162,012,751...162,060,454
G
Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16508911 PMID:16511523
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
G
Pparg
peroxisome proliferator-activated receptor gamma
treatment
IMP IDA
RGD
PMID:18594976 PMID:22529699
RGD:2301874 , RGD:8553190
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
G
Ppp1r18
protein phosphatase 1, regulatory subunit 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:2,877,567...2,887,526
Ensembl chr20:2,877,567...2,891,802
G
Ppp1r3b
protein phosphatase 1, regulatory subunit 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:56,830,011...56,842,395
Ensembl chr16:56,829,660...56,842,406
G
Ppp1r3c
protein phosphatase 1, regulatory subunit 3C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:234,460,958...234,465,961
Ensembl chr 1:234,460,652...234,465,961
G
Praf2
PRA1 domain family, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr X:14,773,398...14,776,035
Ensembl chr X:14,773,420...14,775,909
G
Prkcb
protein kinase C, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
G
Prkcd
protein kinase C, delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
G
Prkn
parkin RBR E3 ubiquitin protein ligase
treatment
IEP
RGD
PMID:26882442
RGD:12910839
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
G
Prlr
prolactin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718
G
Prnp
prion protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
G
Procr
protein C receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:144,254,596...144,258,863
Ensembl chr 3:144,254,380...144,258,903
G
Prodh
proline dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
G
Prodh2
proline dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:85,753,558...85,767,165
Ensembl chr 1:85,753,644...85,767,162
G
Pros1
protein S
IEP
mRNA, protein:decreased expression:liver, plasma
RGD
PMID:16995903
RGD:2300011
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
G
Prr13
proline rich 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:133,592,511...133,595,817
Ensembl chr 7:133,592,490...133,601,005
G
Prtfdc1
phosphoribosyl transferase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:83,549,608...83,654,517
Ensembl chr17:83,548,803...83,655,179
G
Prtg
protogenin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:73,548,440...73,657,945
Ensembl chr 8:73,548,466...73,653,259
G
Prune2
prune homolog 2 with BCH domain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:214,352,586...214,624,848
Ensembl chr 1:214,352,955...214,622,650
G
Psmb10
proteasome 20S subunit beta 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr19:33,830,958...33,833,442
Ensembl chr19:33,827,229...33,833,626
G
Psmb8
proteasome 20S subunit beta 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
G
Psmb9
proteasome 20S subunit beta 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
G
Psme2
proteasome activator subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946
G
Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
G
Ptafr
platelet-activating factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251
G
Pter
phosphotriesterase related
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:76,058,388...76,119,633
Ensembl chr17:76,058,503...76,119,627
G
Ptger2
prostaglandin E receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr15:18,215,013...18,228,714
Ensembl chr15:18,217,285...18,228,714
G
Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17565644 PMID:18555214
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
G
Ptk2
protein tyrosine kinase 2
IEP
mRNA, protein:increased expression:liver
RGD
PMID:15378782
RGD:2292604
NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
G
Ptn
pleiotrophin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456
G
Ptpn1
protein tyrosine phosphatase, non-receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26739621
NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
G
Ptpn18
protein tyrosine phosphatase, non-receptor type 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:36,672,325...36,689,963
Ensembl chr 9:36,672,362...36,690,995
G
Ptprc
protein tyrosine phosphatase, receptor type, C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
G
Ptprd
protein tyrosine phosphatase, receptor type, D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:90,046,993...90,698,977 NCBI chr 5:91,122,354...91,641,754
Ensembl chr 5:90,048,966...92,369,396
G
Ptpro
protein tyrosine phosphatase, receptor type, O
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:170,164,071...170,374,790
Ensembl chr 4:170,164,431...170,374,771
G
Ptrh1
peptidyl-tRNA hydrolase 1 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:16,064,867...16,071,098
Ensembl chr 3:16,064,880...16,070,648
G
Ptrhd1
peptidyl-tRNA hydrolase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:27,218,417...27,221,805
Ensembl chr 6:27,218,417...27,221,805
G
Pxdn
peroxidasin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345
G
Pycard
PYD and CARD domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
G
Pycr1
pyrroline-5-carboxylate reductase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549
G
R3hdm2
R3H domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:63,212,519...63,340,574
Ensembl chr 7:63,232,346...63,340,540
G
Rab30
RAB30, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:146,803,719...146,898,369
Ensembl chr 1:146,803,714...146,892,181
G
Rab31
RAB31, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:105,246,712...105,382,973
Ensembl chr 9:105,246,709...105,381,253
G
Rab32
RAB32, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934
G
Rab40b
Rab40b, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:106,631,514...106,659,090
Ensembl chr10:106,631,514...106,659,090
G
Rab8b
RAB8B, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:67,458,921...67,536,466
Ensembl chr 8:67,458,923...67,536,384
G
Rabgap1l
RAB GTPase activating protein 1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:72,464,114...73,059,845
Ensembl chr13:72,468,110...73,059,984
G
Rac2
Rac family small GTPase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
G
Ramp1
receptor activity modifying protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:91,765,481...91,816,152
Ensembl chr 9:91,781,285...91,816,151
G
Ramp2
receptor activity modifying protein 2
IEP
RGD
PMID:16713642
RGD:1625319
NCBI chr10:86,187,366...86,190,692
Ensembl chr10:86,188,812...86,231,829
G
Rarres1
retinoic acid receptor responder 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:151,749,715...151,783,975
Ensembl chr 2:151,749,715...151,783,978
G
Rassf4
Ras association domain family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:149,897,525...149,932,658
Ensembl chr 4:149,897,543...149,932,411
G
Rbl2
RB transcriptional corepressor like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr19:15,876,852...15,923,632
Ensembl chr19:15,876,853...15,923,572
G
Rbm3
RNA binding motif protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr X:14,348,909...14,352,387
Ensembl chr X:14,348,910...14,353,580
G
Rbp4
retinol binding protein 4
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:17337499
RGD:329845879
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
G
Rcn1
reticulocalbin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:91,841,052...91,855,295
Ensembl chr 3:91,841,052...91,855,295
G
Rcn2
reticulocalbin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:56,449,206...56,466,253
Ensembl chr 8:56,449,206...56,466,251
G
Rcsd1
RCSD domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:77,901,898...77,964,309
Ensembl chr13:77,901,898...77,966,228
G
Rdh10
retinol dehydrogenase 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:3,186,671...3,215,572
Ensembl chr 5:3,188,445...3,215,572
G
Rdh13
retinol dehydrogenase 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27865848
NCBI chr 1:69,373,014...69,401,454
Ensembl chr 1:69,373,113...69,400,908
G
Reck
reversion-inducing-cysteine-rich protein with kazal motifs
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502
G
Reep5
receptor accessory protein 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr18:25,945,375...25,983,271
Ensembl chr18:25,945,381...25,976,509
G
Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26806094
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
G
Rell1
RELT-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:44,318,640...44,378,541
Ensembl chr14:44,303,009...44,378,500
G
Reln
reelin
IEP
mRNA, protein:increased expression:liver, plasma (rat)
RGD
PMID:18449964
RGD:2317777
NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
G
Rgn
regucalcin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr X:1,619,030...1,634,456
Ensembl chr X:1,619,032...1,634,450
G
Rgs10
regulator of G-protein signaling 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:182,946,334...182,987,729
Ensembl chr 1:182,946,336...182,987,697
G
Rgs2
regulator of G-protein signaling 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:55,799,749...55,802,354
Ensembl chr13:55,798,829...55,802,385
G
Rgs3
regulator of G-protein signaling 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:76,022,038...76,161,895
Ensembl chr 5:76,022,001...76,161,894
G
Rgs5
regulator of G-protein signaling 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:81,848,254...81,885,053
Ensembl chr13:81,836,304...81,885,518
G
Rhoa
ras homolog family member A
IEP
mRNA, protein:increased expression:liver
RGD
PMID:16492715 PMID:17596891
RGD:2298879 , RGD:1642803
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
G
Rhoq
ras homolog family member Q
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:7,613,632...7,652,047
G
Rida
reactive intermediate imine deaminase A homolog
treatment
IDA
RGD
PMID:23075396
RGD:9685568
NCBI chr 7:65,691,429...65,705,257
Ensembl chr 7:65,691,435...65,705,716
G
Rit1
Ras-like without CAAX 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
G
Rmdn2
regulator of microtubule dynamics 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:15,372,569...15,443,000
Ensembl chr 6:15,375,496...15,441,480
G
Rmnd5b
required for meiotic nuclear division 5 homolog B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:35,881,250...35,892,322
Ensembl chr10:35,881,268...35,892,265
G
Rnase4
ribonuclease A family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117
G
Rnasel
ribonuclease L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
G
Rnf39
ring finger protein 39
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:1,604,794...1,610,283
Ensembl chr20:1,604,794...1,610,283
G
Robo2
roundabout guidance receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr11:12,528,949...14,096,726
Ensembl chr11:12,528,951...13,041,536
G
Rph3al
rabphilin 3A-like (without C2 domains)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr10:60,689,943...60,833,354
Ensembl chr10:60,690,031...60,801,883
G
Rsrp1
arginine and serine rich protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:147,147,774...147,151,523
Ensembl chr 5:147,147,784...147,151,523
G
RT1-Ba
RT1 class II, locus Ba
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-CE5
RT1 class I, locus CE5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:3,403,418...3,479,476
G
RT1-Da
RT1 class II, locus Da
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
G
RT1-Db1
RT1 class II, locus Db1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
RT1-DMa
RT1 class II, locus DMa
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:4,707,028...4,710,432
Ensembl chr20:4,707,028...4,710,432
G
RT1-DMb
RT1 class II, locus DMb
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:4,693,102...4,700,340
Ensembl chr20:4,693,103...4,700,340
G
RT1-M3-1
RT1 class Ib, locus M3, gene 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117
G
Rtn4
reticulon 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:103,450,074...103,497,687
Ensembl chr14:103,449,930...103,497,686
G
Rtp3
receptor (chemosensory) transporter protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:110,970,154...110,975,000
Ensembl chr 8:110,970,160...110,974,699
G
Rxra
retinoid X receptor alpha
ISO
RGD
PMID:15566521
RGD:1643114
NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
G
S100a10
S100 calcium binding protein A10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661
G
S100a11
S100 calcium binding protein A11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:179,191,688...179,197,098
Ensembl chr 2:179,191,715...179,197,044
G
S100a6
S100 calcium binding protein A6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180
G
S100a9
S100 calcium binding protein A9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230
G
S1pr1
sphingosine-1-phosphate receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:203,624,752...203,629,110
Ensembl chr 2:203,621,587...203,629,681
G
Samd11
sterile alpha motif domain containing 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:166,831,681...166,859,805
Ensembl chr 5:166,831,663...166,850,009
G
Sash3
SAM and SH3 domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr X:127,326,815...127,341,521
Ensembl chr X:127,326,859...127,341,519
G
Scd2
stearoyl-Coenzyme A desaturase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:243,169,171...243,182,231
Ensembl chr 1:243,169,236...243,182,232
G
Sdr42e1
short chain dehydrogenase/reductase family 42E, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr19:45,715,366...45,727,901
Ensembl chr19:45,715,399...45,727,901
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Sds
serine dehydratase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr12:36,083,226...36,090,540
Ensembl chr12:36,083,229...36,088,203
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Selenom
selenoprotein M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:78,395,826...78,398,429
Ensembl chr14:78,395,826...78,398,429
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Selenop
selenoprotein P
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:52,498,123...52,508,409
Ensembl chr 2:52,498,339...52,508,852
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Selenow
selenoprotein W
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:76,599,441...76,604,514
Ensembl chr 1:76,598,779...76,604,724 Ensembl chr 1:76,598,779...76,604,724
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Selp
selectin P
IEP
protein:increased expression:bone marrow
RGD
PMID:19333758
RGD:2312308
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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Sema6d
semaphorin 6D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:111,883,415...111,941,100
Ensembl chr 3:111,883,872...111,941,094
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Senp2
SUMO specific peptidase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29535048
NCBI chr11:78,981,429...79,018,274
Ensembl chr11:78,981,432...79,018,238
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Serpina4
serpin family A member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:122,999,970...123,009,083
Ensembl chr 6:122,999,900...123,009,082
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Serpina6
serpin family A member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:122,780,040...122,790,274
Ensembl chr 6:122,780,043...122,790,349
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Serpina7
serpin family A member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr X:102,663,242...102,722,319
Ensembl chr X:102,663,405...102,669,040
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Serpinb9
serpin family B member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:31,420,118...31,443,237
Ensembl chr17:31,420,125...31,443,230
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Serpinc1
serpin family C member 1
treatment
ISO
associated with Inflammatory Bowel Diseases
RGD
PMID:16124052
RGD:1599330
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Serpinh1
serpin family H member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18376398 PMID:25380136
NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801
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Sez6
seizure related 6 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:62,818,931...62,868,686
Ensembl chr10:62,819,069...62,868,671
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Sgcb
sarcoglycan, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:34,563,614...34,578,614
Ensembl chr14:34,563,608...34,578,583
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Sgk2
serum/glucocorticoid regulated kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:151,644,102...151,669,480
Ensembl chr 3:151,644,102...151,669,480
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Sh3bgrl3
SH3 domain binding glutamate-rich protein like 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:146,354,152...146,355,525
Ensembl chr 5:146,354,152...146,355,331
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Shcbp1
SHC binding and spindle associated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:84,672,277...84,703,843
Ensembl chr16:84,672,321...84,703,844
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Shisa3
shisa family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:40,563,672...40,568,244
Ensembl chr14:40,563,673...40,568,244
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26435214
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Skap2
src kinase associated phosphoprotein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:80,948,832...81,100,900
Ensembl chr 4:80,950,580...81,100,891
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Skil
SKI-like proto-oncogene
IEP
RGD
PMID:19189315
RGD:2308901
NCBI chr 2:112,247,047...112,275,176
Ensembl chr 2:112,247,051...112,275,080
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Sla
src-like adaptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648
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Slamf9
SLAM family member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:84,941,896...84,944,749
Ensembl chr13:84,941,982...84,944,748
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Slc10a1
solute carrier family 10 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr 6:100,613,045...100,626,670
Ensembl chr 6:100,613,045...100,626,670
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Slc12a3
solute carrier family 12 member 3
IEP
protein:altered expression:kidney (rat)
RGD
PMID:15956070
RGD:1580587
NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091
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Slc15a3
solute carrier family 15 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:207,492,365...207,507,158
Ensembl chr 1:207,492,365...207,507,157
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Slc17a1
solute carrier family 17 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980 PMID:25380136
NCBI chr17:41,219,461...41,255,199
Ensembl chr17:41,222,049...41,253,304
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Slc17a2
solute carrier family 17, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:41,318,312...41,339,012
Ensembl chr17:41,319,701...41,336,325
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Slc19a2
solute carrier family 19 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:76,601,975...76,616,175
Ensembl chr13:76,601,900...76,616,172
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Slc20a1
solute carrier family 20 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:116,427,095...116,441,049
Ensembl chr 3:116,427,098...116,441,051
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Slc22a23
solute carrier family 22, member 23
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:30,544,106...30,709,790
Ensembl chr17:30,544,106...30,709,790
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Slc22a8
solute carrier family 22 member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:205,496,331...205,516,378
Ensembl chr 1:205,498,084...205,517,450
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Slc23a1
solute carrier family 23 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr18:27,214,940...27,230,564
Ensembl chr18:27,216,281...27,230,697
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Slc25a13
solute carrier family 25 member 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
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Slc25a24
solute carrier family 25 member 24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:196,761,076...196,799,236
Ensembl chr 2:196,761,274...196,799,231
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Slc25a30
solute carrier family 25, member 30
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr15:51,076,998...51,099,613
Ensembl chr15:51,077,002...51,099,613
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Slc25a4
solute carrier family 25 member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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Slc37a4
solute carrier family 37 member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
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Slc39a6
solute carrier family 39 member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr18:15,864,874...15,885,417
Ensembl chr18:15,864,875...15,885,417
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Slc39a8
solute carrier family 39 member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:224,171,787...224,319,326
Ensembl chr 2:224,256,654...224,319,129
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Slc43a2
solute carrier family 43 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:60,375,462...60,420,838
Ensembl chr10:60,376,559...60,418,244
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Slc44a2
solute carrier family 44 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:19,870,867...19,905,345
Ensembl chr 8:19,870,888...19,905,342
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Slc46a1
solute carrier family 46 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:63,361,504...63,367,940
Ensembl chr10:63,361,486...63,368,848
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Slc4a4
solute carrier family 4 member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
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Slc66a3
solute carrier family 66 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:39,774,801...39,786,554
Ensembl chr 6:39,774,808...39,786,303
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Slc7a1
solute carrier family 7 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr12:6,628,288...6,703,849
Ensembl chr12:6,628,007...6,703,849
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Slfn2
schlafen family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:67,953,322...67,959,659
Ensembl chr10:67,953,171...67,959,458
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Smad1
SMAD family member 1
IEP
RGD
PMID:16447265
RGD:1643229
NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
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Smad2
SMAD family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16570350
NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
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Smad3
SMAD family member 3
treatment
IEP
RGD
PMID:30346985
RGD:151665755
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Smad4
SMAD family member 4
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16570350 PMID:19824107
RGD:12903949
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Smarcc1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:110,111,097...110,214,734
Ensembl chr 8:110,111,122...110,214,720
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Smc2
structural maintenance of chromosomes 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:66,806,882...66,853,478
Ensembl chr 5:66,807,011...66,853,242
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Smc5
structural maintenance of chromosomes 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:220,769,366...220,839,138
Ensembl chr 1:220,769,366...220,839,096
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Smoc1
SPARC related modular calcium binding 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:100,701,330...100,897,441
Ensembl chr 6:100,701,346...100,862,699
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Smoc2
SPARC related modular calcium binding 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:55,262,472...55,391,804
Ensembl chr 1:55,262,530...55,391,693
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Snap23
synaptosome associated protein 23
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:107,514,088...107,546,177
Ensembl chr 3:107,514,131...107,544,320
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Snap29
synaptosome associated protein 29
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
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Snx7
sorting nexin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:205,843,164...205,927,737
Ensembl chr 2:205,842,837...205,927,763
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Soat1
sterol O-acyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
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Socs1
suppressor of cytokine signaling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15197228
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Socs2
suppressor of cytokine signaling 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:30,006,360...30,045,161
Ensembl chr 7:30,008,578...30,043,548
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Sox4
SRY-box transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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Sp140
SP140 nuclear body protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
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Sparc
secreted protein acidic and cysteine rich
IMP ISO IEP
CTD Direct Evidence: marker/mechanism|therapeutic mRNA:increased expression:liver, fat cell
CTD RGD
PMID:18615449 PMID:25380136 PMID:18615449 PMID:8786698
RGD:2300030 , RGD:2300071
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Spin2a
spindlin family member 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr X:17,511,018...17,513,001
Ensembl chr X:17,511,022...17,513,001
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Spp1
secreted phosphoprotein 1
IDA
RGD
PMID:16221502
RGD:1581332
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Spsb4
splA/ryanodine receptor domain and SOCS box containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:97,536,519...97,609,757
Ensembl chr 8:97,536,520...97,609,787
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Sptan1
spectrin, alpha, non-erythrocytic 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
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Srd5a1
steroid 5 alpha-reductase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:33,686,069...33,720,468
Ensembl chr 1:33,686,391...33,720,461
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Srebf1
sterol regulatory element binding transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Srgn
serglycin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:30,442,810...30,479,549
Ensembl chr20:30,442,813...30,457,406
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Sri
sorcin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:25,973,493...25,997,879
Ensembl chr 4:25,966,750...25,998,077
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Srr
serine racemase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:59,769,563...59,786,688
Ensembl chr10:59,769,571...59,787,011
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St14
ST14 transmembrane serine protease matriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
G
Stac3
SH3 and cysteine rich domain 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:63,343,078...63,350,590
Ensembl chr 7:63,343,186...63,350,589
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Stard13
StAR-related lipid transfer domain containing 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr12:566,282...959,372
Ensembl chr12:566,310...959,421
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Stat3
signal transducer and activator of transcription 3
treatment
IEP
RGD
PMID:30346985
RGD:151665755
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stat5a
signal transducer and activator of transcription 5A
treatment
IEP
RGD
PMID:30346985
RGD:151665755
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
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Stau2
staufen double-stranded RNA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:2,840,741...3,084,935
Ensembl chr 5:2,840,765...3,084,929
G
Steap4
STEAP4 metalloreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:26,077,182...26,099,859
Ensembl chr 4:26,054,671...26,099,859
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Stk10
serine/threonine kinase 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:17,117,860...17,212,065
Ensembl chr10:17,117,878...17,212,061
G
Sult1e1
sulfotransferase family 1E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr14:20,422,324...20,439,562
Ensembl chr14:20,422,324...20,439,275
G
Sult2a1
sulfotransferase family 2A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17072980
NCBI chr 1:75,451,178...75,508,113
Ensembl chr 1:74,911,100...75,508,134
G
Synrg
synergin, gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:68,848,828...68,931,252
Ensembl chr10:68,849,642...68,931,250
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Tagln2
transgelin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr13:84,966,980...84,973,973
Ensembl chr13:84,967,009...84,973,972
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Tap2
transporter 2, ATP binding cassette subfamily B member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
G
Tax1bp3
Tax1 binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:57,795,845...57,800,363
Ensembl chr10:57,795,382...57,800,363
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Tbc1d9
TBC1 domain family member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr19:24,842,166...24,951,383
Ensembl chr19:24,842,205...24,943,129
G
Tcf20
transcription factor 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:113,953,449...114,104,166
Ensembl chr 7:113,954,089...114,051,839
G
Tcf4
transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
G
Tert
telomerase reverse transcriptase
IEP
protein:increased expression, increased localization:nucleus
RGD
PMID:20353272
RGD:11038673
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
G
Tes
testin LIM domain protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:45,365,304...45,403,829
Ensembl chr 4:45,365,285...45,403,829
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Tf
transferrin
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15650968 PMID:22464783
RGD:7244387
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
G
Tfec
transcription factor EC
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:45,106,129...45,180,236
Ensembl chr 4:45,107,641...45,180,236
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Tfpi2
tissue factor pathway inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:31,981,786...31,986,707
Ensembl chr 4:31,982,178...31,986,600
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Tgfb1
transforming growth factor, beta 1
treatment onset
IEP ISO
protein:increased expression:liver mRNA:increased expression:liver (mouse) associated with extrahepatic cholestasis associated with Chemical and Drug Induced Liver Injury CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:12586293 PMID:15772939 PMID:16579972 PMID:26806094 PMID:27605418 PMID:16009107 PMID:28465467 PMID:27528511 PMID:30243650 PMID:28390311 PMID:30092114 More...
RGD:1601595 , RGD:39939037 , RGD:14995475 , RGD:14985234 , RGD:14985232 , RGD:14985231
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tgfb3
transforming growth factor, beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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Tgfbr1
transforming growth factor, beta receptor 1
IEP IMP
protein:increased expression:liver
RGD
PMID:16009107 PMID:15723089
RGD:1601595 , RGD:2302027
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Tgfbr2
transforming growth factor, beta receptor 2
treatment
IDA IEP ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:15942678 PMID:16627068 PMID:16627068 PMID:30346985
RGD:1579923 , RGD:151665755
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Th
tyrosine hydroxylase
IEP
mRNA:decreased expression:superior mesenteric artery (rat)
RGD
PMID:18457899
RGD:5129683
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
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Thbd
thrombomodulin
IEP ISO
protein:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25380136 PMID:21112949
RGD:5685038
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Thpo
thrombopoietin
IEP
mRNA:decreased expression:liver
RGD
PMID:9794189
RGD:1580082
Ensembl chr11:80,182,820...80,188,167
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Thyn1
thymocyte nuclear protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:25,406,563...25,415,445
Ensembl chr 8:25,406,500...25,415,445
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Tial1
Tia1 cytotoxic granule-associated RNA binding protein-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:183,008,358...183,045,092
Ensembl chr 1:183,009,253...183,031,637
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Timp1
TIMP metallopeptidase inhibitor 1
IEP ISO
mRNA:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16507762 PMID:16718785 PMID:16762003 PMID:21163135 PMID:25380136 PMID:8707259 More...
RGD:2290364
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Timp2
TIMP metallopeptidase inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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Tkfc
triokinase and FMN cyclase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:207,238,230...207,253,035
Ensembl chr 1:207,236,557...207,252,737
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Tlr2
toll-like receptor 2
treatment
IDA ISO
RGD
PMID:22683883 PMID:27601294
RGD:7241092 , RGD:18182936
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr3
toll-like receptor 3
ISO
RGD
PMID:27178735
RGD:21079415
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tlr4
toll-like receptor 4
treatment
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25380136 PMID:22683883 PMID:27601294
RGD:7241092 , RGD:18182936
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tm6sf1
transmembrane 6 superfamily member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:135,799,844...135,828,515
Ensembl chr 1:135,786,381...135,828,443
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Tmbim1
transmembrane BAX inhibitor motif containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069
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Tmem106a
transmembrane protein 106A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:86,506,908...86,515,915
Ensembl chr10:86,506,936...86,515,892
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Tmem165
transmembrane protein 165
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:31,993,489...32,018,717
Ensembl chr14:31,993,493...32,018,717
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Tmem178a
transmembrane protein 178A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 6:14,004,629...14,063,677
Ensembl chr 6:14,004,630...14,063,549
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Tmem184b
transmembrane protein 184B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:110,925,092...110,967,975
Ensembl chr 7:110,925,092...110,967,943
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Tmem43
transmembrane protein 43
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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Tmem65
transmembrane protein 65
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:90,336,997...90,378,930
Ensembl chr 7:90,274,142...90,379,474
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Tmsb10
thymosin, beta 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:105,009,959...105,011,095
Ensembl chr 4:105,009,212...105,011,028
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Tnf
tumor necrosis factor
treatment
IEP ISO
mRNA:increased expression:liver (mouse) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16085334 PMID:24383550 PMID:28465467
RGD:10450610 , RGD:39939037
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfaip8
TNF alpha induced protein 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr18:43,183,854...43,299,512
Ensembl chr18:43,183,916...43,299,517
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Tnfrsf12a
TNF receptor superfamily member 12A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:12,707,077...12,709,071
Ensembl chr10:12,689,890...12,709,045
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Tor4a
torsin family 4, member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:8,004,292...8,007,979
Ensembl chr 3:8,002,023...8,008,042
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Tpm1
tropomyosin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
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Tpm3
tropomyosin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013
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Tpm4
tropomyosin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:17,684,415...17,698,456
Ensembl chr16:17,683,195...17,705,984
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Trafd1
TRAF type zinc finger domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr12:35,165,606...35,179,525
Ensembl chr12:35,165,606...35,179,525
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Trak2
trafficking kinesin protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996
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Trib3
tribbles pseudokinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:140,809,634...140,815,230
Ensembl chr 3:140,809,043...140,814,497
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Trim24
tripartite motif-containing 24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:66,567,342...66,692,029
Ensembl chr 4:66,566,686...66,717,241
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Trim59
tripartite motif-containing 59
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:153,269,210...153,281,185
Ensembl chr 2:153,268,584...153,281,031
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Trpv1
transient receptor potential cation channel, subfamily V, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17043671
NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513
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Tsc22d1
TSC22 domain family, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr15:51,750,489...51,850,958
Ensembl chr15:51,749,510...51,850,958
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Tspan8
tetraspanin 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:51,444,946...51,479,360
Ensembl chr 7:51,445,074...51,479,356
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Tspo
translocator protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:114,720,188...114,730,450
Ensembl chr 7:114,720,188...114,730,450
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Tstd3
thiosulfate sulfurtransferase like domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:35,294,652...35,304,093
Ensembl chr 5:35,294,645...35,304,101
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Ttc36
tetratricopeptide repeat domain 36
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:45,112,737...45,116,345
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Tubb6
tubulin, beta 6 class V
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
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Tusc3
tumor suppressor candidate 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:53,196,195...53,345,241
Ensembl chr16:53,196,195...53,344,781
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Tyrobp
transmembrane immune signaling adaptor Tyrobp
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:85,672,931...85,676,856
Ensembl chr 1:85,672,994...85,676,848
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U2surp
U2 snRNP-associated SURP domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:96,018,932...96,075,795
Ensembl chr 8:96,022,957...96,075,691
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U2surp-ps1
U2 snRNP-associated SURP domain containing, pseudogene 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:47,005,884...47,008,963
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Ubd
ubiquitin D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639 Ensembl chr20:1,385,864...1,408,639
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Ugcg
UDP-glucose ceramide glucosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393
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Ugt2b
UDP glycosyltransferase 2 family, polypeptide B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr14:20,630,572...20,665,062
Ensembl chr14:20,630,250...20,651,776
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Unc5cl
unc-5 family C-terminal like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:12,528,109...12,543,382
Ensembl chr 9:12,528,246...12,542,233
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Unc93b1
unc-93 homolog B1, TLR signaling regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:201,167,388...201,178,343
Ensembl chr 1:201,152,693...201,178,338
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Ust5r
integral membrane transport protein UST5r
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:205,210,558...205,286,868
Ensembl chr 1:205,211,034...205,286,718
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Vasp
vasodilator-stimulated phosphoprotein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:78,910,009...78,925,791
Ensembl chr 1:78,910,011...78,925,061
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Vav1
vav guanine nucleotide exchange factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:18416461 PMID:18458672
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vim
vimentin
ISO IEP
CTD Direct Evidence: marker/mechanism associated with Schistosomiasis Japonica; mRNA:increased expression:liver (rat)
CTD RGD
PMID:25380136 PMID:29323718
RGD:38599216
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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Vipr1
vasoactive intestinal peptide receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 8:121,303,739...121,339,587
Ensembl chr 8:121,310,248...121,339,585
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Vopp1
VOPP1 WW domain binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 4:87,363,678...87,432,747
Ensembl chr 4:87,363,477...87,450,375
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Vsir
V-set immunoregulatory receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr20:28,281,582...28,307,262
Ensembl chr20:28,281,596...28,303,878
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Vwf
von Willebrand factor
IEP ISO
protein:increased expression:liver: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28527913 PMID:7531171
RGD:11079232
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Wfdc2
WAP four-disulfide core domain 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:153,286,946...153,314,832
Ensembl chr 3:153,286,131...153,292,807
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Wipf1
WAS/WASL interacting protein family, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:58,314,521...58,416,668
Ensembl chr 3:58,314,542...58,372,742
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Wls
Wnt ligand secretion mediator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:248,931,885...249,047,248
Ensembl chr 2:248,931,903...249,048,298
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Xpnpep2
X-prolyl aminopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr X:127,287,765...127,317,036
Ensembl chr X:127,287,979...127,317,223
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Ybx1
Y box binding protein 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16012952
NCBI chr 5:132,882,137...132,898,885
Ensembl chr 5:132,882,145...132,898,862
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Ypel3
yippee-like 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705
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Ywhag
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827
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Ywhaz
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668
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Zbtb4
zinc finger and BTB domain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr10:54,480,698...54,501,492
Ensembl chr10:54,485,071...54,501,492
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Zdhhc13
zinc finger DHHC-type palmitoyltransferase 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 1:98,487,319...98,525,906
Ensembl chr 1:98,487,358...98,525,905
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Zdhhc2
zinc finger DHHC-type palmitoyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr16:51,808,465...51,878,060
Ensembl chr16:51,808,468...51,878,060
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Zeb2
zinc finger E-box binding homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
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Zfp37
zinc finger protein 37
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 5:75,598,732...75,638,896
Ensembl chr 5:75,598,732...75,638,942
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Zfyve16
zinc finger FYVE-type containing 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25380136
NCBI chr 2:23,713,018...23,757,576
Ensembl chr 2:23,713,766...23,756,990
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Krt18
keratin 18
susceptibility
ISO
ClinVar Annotator: match by term: Cirrhosis, familial | ClinVar Annotator: match by term: Cirrhosis, noncryptogenic, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:9011570 PMID:12724528 PMID:25741868
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
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Krt8
keratin 8
ISO
ClinVar Annotator: match by term: Cirrhosis, familial | ClinVar Annotator: match by term: Cirrhosis, noncryptogenic, susceptibility to
ClinVar
PMID:9011570 PMID:12724528 PMID:25741868
NCBI chr 7:133,124,203...133,131,656
Ensembl chr 7:133,124,203...133,131,728
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Nhlrc2
NHL repeat containing 2
ISO
ClinVar Annotator: match by term: Fibrosis, neurodegeneration, and cerebral angiomatosis
OMIM ClinVar
PMID:25741868 PMID:29423877 PMID:30138417 PMID:30239752 PMID:32435055 PMID:34165204 PMID:37188825 More...
NCBI chr 1:255,589,743...255,648,904
Ensembl chr 1:255,589,742...255,651,408
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Ace2
angiotensin converting enzyme 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16723697
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20493835
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Actn4
actinin alpha 4
susceptibility
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 PMID:21680739 PMID:22732337 PMID:23890478 PMID:24130771 PMID:25741868 PMID:26248470 PMID:26346198 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29869118 PMID:31027891 PMID:31930129 PMID:10700177 More...
RGD:1598731
NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
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Actr3
actin related protein 3
IAGP IEP
DNA:missense mutation:cds:p.L111F (rat) protein:increased expression:renal glomerulus (rat)
RGD
PMID:18064521 PMID:27251563
RGD:2292230 , RGD:11575049
NCBI chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124
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Agt
angiotensinogen
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19858406 PMID:21357516
RGD:5129175
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
IEP
protein:increased expression:kidney cortex
RGD
PMID:21357516
RGD:5129175
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Agtr2
angiotensin II receptor, type 2
IEP
protein:increased expression:kidney cortex
RGD
PMID:21357516
RGD:5129175
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Angpt2
angiopoietin 2
IEP
mRNA, protein:increased expression:glomerulus (rat)
RGD
PMID:16628643
RGD:2314213
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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Anln
anillin, actin binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538
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Arhgap24
Rho GTPase activating protein 24
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
NCBI chr14:6,800,624...7,183,877
Ensembl chr14:6,800,631...7,183,823
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Axdnd1
axonemal dynein light chain domain containing 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 PMID:18823551 PMID:19406966 PMID:20947785 PMID:21355056 PMID:24509478 PMID:24742477 PMID:25741868 PMID:28492532 PMID:30655312 PMID:32581362 More...
NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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Bdkrb1
bradykinin receptor B1
ISO
RGD
PMID:21412216
RGD:7175321
NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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C2
complement C2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
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C3
complement C3
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:1976733 PMID:7870343 PMID:16687714 PMID:17634448 PMID:17767156 PMID:18325906 PMID:19168221 PMID:19259132 PMID:20664795 PMID:21576320 PMID:22718507 PMID:23112567 PMID:23455636 PMID:25741868 PMID:28492532 More...
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Casp9
caspase 9
treatment
IEP
RGD
PMID:28245472
RGD:13782344
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Cat
catalase
ISO
RGD
PMID:22443450
RGD:7205647
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccl11
C-C motif chemokine ligand 11
treatment
ISO
RGD
PMID:22427838
RGD:7247740
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Ccl3
C-C motif chemokine ligand 3
ISO
RGD
PMID:17684420
RGD:7241818
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17121042
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Cd2ap
CD2-associated protein
ISO
FSGS3, OMIM:607832, DNA:splice-site mutaton ClinVar Annotator: match by term: Focal segmental glomerulosclerosis CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:25741868 PMID:28492532 PMID:12764198
RGD:1600628
NCBI chr 9:18,086,744...18,182,744
Ensembl chr 9:18,086,984...18,182,199
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Cfb
complement factor B
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar RGD
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 PMID:17522263 More...
RGD:7242704
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Cfh
complement factor H
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:8072530 PMID:15870199 PMID:16299065 PMID:17089378 PMID:17947292 PMID:18252712 PMID:19259132 PMID:21909106 PMID:25741868 PMID:28492532 PMID:34189567 PMID:35925583 More...
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Cfi
complement factor I
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:18825487 PMID:25741868 PMID:28492532
NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
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Cmas
cytidine monophosphate N-acetylneuraminic acid synthetase
ISS
MouseDO
NCBI chr 4:175,718,808...175,737,128
Ensembl chr 4:175,718,808...175,737,125
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Col4a1
collagen type IV alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423 PMID:18682491
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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Col4a3
collagen type IV alpha 3 chain
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:14871398 PMID:17216251 PMID:18385178 PMID:24033266 PMID:24854265 PMID:25741868 PMID:26346198 PMID:26467025 PMID:28492532 PMID:29924831 PMID:30245029 More...
NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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Col4a4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:12028435 PMID:15618242 PMID:17396119 PMID:19129241 PMID:20029656 PMID:21196518 PMID:24033266 PMID:24052634 PMID:24522496 PMID:24854265 PMID:25307543 PMID:25514610 PMID:25741868 PMID:26467025 PMID:26809805 PMID:27281700 PMID:28492532 PMID:31049720 PMID:31922066 More...
NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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Col4a5
collagen type IV alpha 5 chain
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:8648925 PMID:9195222 PMID:10561141 PMID:10752524 PMID:14514738 PMID:14993485 PMID:15780079 PMID:21505094 PMID:24033266 PMID:24854265 PMID:25741868 PMID:26809805 PMID:27281700 PMID:28492532 PMID:28844315 More...
NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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Coq2
coenzyme Q2, polyprenyltransferase
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891
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Coq8b
coenzyme Q8B
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
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Crb2
crumbs cell polarity complex component 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
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Edn1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Eya1
EYA transcriptional coactivator and phosphatase 1
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720
NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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Fn1
fibronectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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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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Havcr1
hepatitis A virus cellular receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19225054
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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Hr
HR, lysine demethylase and nuclear receptor corepressor
IMP
RGD
PMID:21325752
RGD:150520024
NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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Hspb1
heat shock protein family B (small) member 1
ISO
protein:increased expression:glomerulus, podocyte:
RGD
PMID:21931298
RGD:10402764
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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Il1b
interleukin 1 beta
ISO
RGD
PMID:21412216
RGD:7175321
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Inf2
inverted formin 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
CTD ClinVar
PMID:20023659 PMID:21866090 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30655312 PMID:32451589 More...
NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
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Itgb3
integrin subunit beta 3
ISO
RGD
PMID:21804539
RGD:6907385
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Kirrel2
kirre like nephrin family adhesion molecule 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:19406966 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670
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Lamb2
laminin subunit beta 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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Lipc
lipase C, hepatic type
IAGP
protein:reduced expression:serum (rat)
RGD
PMID:14531811
RGD:2308781
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Lmx1b
LIM homeobox transcription factor 1 beta
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
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Lpl
lipoprotein lipase
IEP
RGD
PMID:14531811
RGD:2308781
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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Mir193a
microRNA 193a
ISS
MouseDO
NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
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Mmp2
matrix metallopeptidase 2
IEP
mRNA, protein:increased expression, increased activity:kidney
RGD
PMID:19357873
RGD:2325738
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
IEP
mRNA, protein:increased expression, increased activity:kidney
RGD
PMID:19357873
RGD:2325738
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mpv17
mitochondrial inner membrane protein MPV17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18818194
NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
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Myh10
myosin heavy chain 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9678433
NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165
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Myh9
myosin, heavy chain 9
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:18794856 PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28492532 PMID:21402784 More...
RGD:6903254
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Myo1e
myosin IE
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169
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Myo9a
myosin IXA
ISS ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
MouseDO ClinVar
PMID:25741868 PMID:33412162
NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514
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Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:12522564 PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 PMID:20182451 PMID:21245836 PMID:21621776 PMID:22128899 PMID:22403613 PMID:22524199 PMID:22529966 PMID:22843550 PMID:22935299 PMID:24033266 PMID:24098386 PMID:24158955 PMID:24431285 PMID:24649046 PMID:25586466 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26273672 PMID:26467025 PMID:26535712 PMID:26848126 PMID:27036377 PMID:27060062 PMID:27819323 PMID:27943647 PMID:28028683 PMID:28137891 PMID:28185410 PMID:28492532 PMID:28692792 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29977033 PMID:30214525 More...
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Noc3l
NOC3-like DNA replication regulator
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868
NCBI chr 1:236,556,037...236,585,372
Ensembl chr 1:236,556,789...236,585,318
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nphp1
nephrocystin 1
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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Nphp4
nephrocystin 4
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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Nphs1
NPHS1 adhesion molecule, nephrin
disease_progression
ISO
mRNA:increased expression:urine (human) protein:decreased expression:kidney,renal glomerulus (human)
RGD
PMID:21414970 PMID:30900988
RGD:38549367 , RGD:15023481
NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
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Nphs2
NPHS2 stomatin family member, podocin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
CTD ClinVar
PMID:1523708 PMID:8589695 PMID:10742096 PMID:11805166 PMID:11805168 PMID:11854170 PMID:12464671 PMID:12644922 PMID:12707396 PMID:12776285 PMID:14570703 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15042551 PMID:15253708 PMID:15264208 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15942677 PMID:15954915 PMID:15968559 PMID:16286890 PMID:16291839 PMID:16481888 PMID:16810518 PMID:16900088 PMID:17109732 PMID:17371932 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18499321 PMID:18683072 PMID:18823551 PMID:19145239 PMID:19268410 PMID:19406966 PMID:19520069 PMID:19812541 PMID:20333530 PMID:20798252 PMID:20947785 PMID:21355056 PMID:21415313 PMID:21636722 PMID:21722858 PMID:22228437 PMID:22578956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24072147 PMID:24227627 PMID:24509478 PMID:24715228 PMID:24742477 PMID:24969201 PMID:25349199 PMID:25525159 PMID:25599733 PMID:25741868 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:27885584 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:28780565 PMID:29869118 PMID:30241959 PMID:30260545 PMID:30348286 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:33193607 PMID:33532864 PMID:34405919 PMID:34853150 More...
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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Nup93
nucleoporin 93
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:32581362
NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
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Nxf7
nuclear RNA export factor 7
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:23686279
NCBI chr X:98,535,374...98,552,562
Ensembl chr X:98,535,375...98,552,526
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Pax2
paired box 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
CTD ClinVar
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:33532864 PMID:35444690 More...
NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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Pcna
proliferating cell nuclear antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17121042
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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Pdss2
decaprenyl diphosphate synthase subunit 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708
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Pias1
protein inhibitor of activated STAT, 1
IEP
RGD
PMID:19350281
RGD:8693412
NCBI chr 8:63,338,150...63,451,670
Ensembl chr 8:63,338,150...63,438,905
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Plce1
phospholipase C, epsilon 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:18975016 PMID:20507940 PMID:25060053 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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Ppp3ca
protein phosphatase 3 catalytic subunit alpha
ISO
RGD
PMID:26436650
RGD:13515117
NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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Ppp3cb
protein phosphatase 3 catalytic subunit beta
ISO
RGD
PMID:26436650
RGD:13515117
NCBI chr15:3,759,950...3,804,976
Ensembl chr15:3,760,030...3,804,981
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Psap
prosaposin
ISO
ClinVar Annotator: match by term: Hyalinosis, Segmental Glomerular
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30976395 PMID:35456468
NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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Rap1gap
Rap1 GTPase-activating protein
ISO
mRNA:increased expression:renal glomerulus (human)
RGD
PMID:24642466
RGD:9835343
NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253
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Reg1a
regenerating family member 1 alpha
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868
NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
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Rpgrip1l
Rpgrip1-like
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Scarb2
scavenger receptor class B, member 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25088547 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr14:15,558,271...15,609,813
Ensembl chr14:15,558,236...15,609,813
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Sdccag8
SHH signaling and ciliogenesis regulator SDCCAG8
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868
NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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Serpine1
serpin family E member 1
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18682491 PMID:22303720
RGD:13208548
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:24744439
RGD:12859042
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Slc17a5
solute carrier family 17 member 5
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25741868 PMID:28492532 PMID:29140481
NCBI chr 8:79,394,416...79,429,387
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Smarcal1
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 More...
NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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Spp1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9294829
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Srgap1
SLIT-ROBO Rho GTPase activating protein 1
ISS
MouseDO
NCBI chr 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423 PMID:18682491 PMID:20493835
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tmem63c
transmembrane protein 63c
ISO
protein:decreased expression:kidney,renal glomerulus (human)
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
protein:increased expression:serum
RGD
PMID:21221075
RGD:7245511
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfaip2
TNF alpha induced protein 2
ISS
MouseDO
NCBI chr 6:130,476,832...130,489,914
Ensembl chr 6:130,476,889...130,489,914
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
protein:increased expression:serum
RGD
PMID:21221075
RGD:7245511
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
protein:increased expression:serum
RGD
PMID:21221075
RGD:7245511
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
treatment
IDA ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.P112Q (human) DNA:nonsense mutation, missense mutations: :multiple DNA:SNP:exon:p.P15S (human)
ClinVar CTD RGD
PMID:19936226 PMID:22980509 PMID:25019165 PMID:25741868 PMID:26467025 PMID:26892346 PMID:28492532 PMID:32581362 PMID:23385000 PMID:15879175 PMID:15924139 PMID:21839714 PMID:22980509 More...
RGD:7247440 , RGD:7247581 , RGD:7247580 , RGD:7247445 , RGD:7247444
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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Vldlr
very low density lipoprotein receptor
IEP
protein:decreased expression:adipose tissue, skeletal muscle (rat)
RGD
PMID:11786096
RGD:2324671
NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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Vwf
von Willebrand factor
ISO
RGD
PMID:22295953
RGD:7207031
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:7795587 PMID:8388765 PMID:9108089 PMID:9531607 PMID:10571943 PMID:11241055 PMID:11738793 PMID:12471221 PMID:15150775 PMID:15483024 PMID:18559874 PMID:18591546 PMID:18618575 PMID:19171881 PMID:19205749 PMID:19221039 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20595692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:23117548 PMID:23515051 PMID:25110071 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26467025 PMID:26725263 PMID:28492532 PMID:30406062 PMID:33226606 PMID:34386660 More...
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Zmpste24
zinc metallopeptidase STE24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17152860
NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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Ace
angiotensin I converting enzyme
treatment
IMP
RGD
PMID:8505110
RGD:12880006
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Actn4
actinin alpha 4
ISO ISS
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 OMIM:603278
OMIM ClinVar MouseDO
PMID:10700177 PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 PMID:21680739 PMID:22351778 PMID:22732337 PMID:23890478 PMID:24130771 PMID:25741868 PMID:26248470 PMID:26301083 PMID:26346198 PMID:26467025 PMID:26740551 PMID:27535533 PMID:28492532 PMID:29869118 PMID:30406062 PMID:31027891 PMID:36090564 More...
NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
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Arhgap24
Rho GTPase activating protein 24
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1
ClinVar
NCBI chr14:6,800,624...7,183,877
Ensembl chr14:6,800,631...7,183,823
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C2
complement C2
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
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C3
complement C3
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:1976733 PMID:17634448 PMID:18325906 PMID:19168221 PMID:25741868 PMID:28492532 More...
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cfb
complement factor B
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Cfi
complement factor I
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:18825487 PMID:25741868 PMID:28492532
NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
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Eya1
EYA transcriptional coactivator and phosphatase 1
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720
NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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Lamb2
laminin subunit beta 2
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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Myh9
myosin, heavy chain 9
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28492532 More...
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:12522564 PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 PMID:20182451 PMID:21245836 PMID:21621776 PMID:22128899 PMID:22403613 PMID:22524199 PMID:22529966 PMID:22843550 PMID:22935299 PMID:24033266 PMID:24098386 PMID:24158955 PMID:24431285 PMID:24649046 PMID:25586466 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26273672 PMID:26467025 PMID:26535712 PMID:26848126 PMID:27036377 PMID:27060062 PMID:27819323 PMID:27943647 PMID:28028683 PMID:28137891 PMID:28185410 PMID:28492532 PMID:28692792 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29977033 PMID:30214525 More...
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Nphp1
nephrocystin 1
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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Nup107
nucleoporin 107
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1
ClinVar
NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
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Pax2
paired box 2
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:33532864 PMID:35444690 More...
NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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Plce1
phospholipase C, epsilon 1
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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Rpgrip1l
Rpgrip1-like
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Scarb2
scavenger receptor class B, member 2
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr14:15,558,271...15,609,813
Ensembl chr14:15,558,236...15,609,813
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Slc17a5
solute carrier family 17 member 5
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532 PMID:29140481
NCBI chr 8:79,394,416...79,429,387
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Smarcal1
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 More...
NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
ISO ISS
OMIM:603965 ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 | ClinVar Annotator: match by term: TRPC6-related condition CTD Direct Evidence: marker/mechanism
OMIM MouseDO ClinVar CTD
PMID:2298509 PMID:10200986 PMID:15879175 PMID:15924139 PMID:16932363 PMID:19129465 PMID:19380626 PMID:19936226 PMID:21734084 PMID:22732337 PMID:22980509 PMID:23171048 PMID:23291369 PMID:23645677 PMID:25019165 PMID:25741868 PMID:26127002 PMID:26147534 PMID:26467025 PMID:26892346 PMID:27573339 PMID:28117080 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28921387 PMID:29127259 PMID:29700422 PMID:30295827 PMID:30586318 PMID:30655312 PMID:31266804 PMID:31266820 PMID:31937884 PMID:33532864 PMID:33884742 PMID:35051376 PMID:35064937 PMID:35749414 PMID:35913909 More...
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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Cd2ap
CD2-associated protein
ISO ISS
ClinVar Annotator: match by term: CD2AP-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to OMIM:607832
OMIM ClinVar MouseDO
PMID:10514378 PMID:12764198 PMID:17713465 PMID:18443213 PMID:19131354 PMID:22971997 PMID:24033266 PMID:25741868 PMID:26346198 PMID:28492532 PMID:30406062 PMID:30612599 PMID:31027891 PMID:33712733 PMID:34408996 PMID:36134775 More...
NCBI chr 9:18,086,744...18,182,744
Ensembl chr 9:18,086,984...18,182,199
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Adss1
adenylosuccinate synthase 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998
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Ahnak2
AHNAK nucleoprotein 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,830,668...131,876,311
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Akt1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Brf1
BRF1, RNA polymerase III transcription initiation factor subunit
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278
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Btbd6
BTB domain containing 6
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:132,058,094...132,060,603
Ensembl chr 6:132,058,096...132,060,587
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Cdca4
cell division cycle associated 4
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,892,305...131,901,571
Ensembl chr 6:131,892,087...131,901,564
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Cep170b
centrosomal protein 170B
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,780,935...131,806,658
Ensembl chr 6:131,778,957...131,806,658
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Clba1
clathrin binding box of aftiphilin containing 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,882,866...131,889,662
Ensembl chr 6:131,882,609...131,889,662
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Gpr132
G protein-coupled receptor 132
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,924,061...131,943,327
Ensembl chr 6:131,924,160...131,942,168
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Inf2
inverted formin 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 | ClinVar Annotator: match by term: INF2-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:6054293 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20023659 PMID:20803156 PMID:21258034 PMID:21415313 PMID:21866090 PMID:22187985 PMID:22961558 PMID:23014460 PMID:23349334 PMID:23515051 PMID:24174593 PMID:24750328 PMID:25165188 PMID:25407002 PMID:25676889 PMID:25741868 PMID:25741869 PMID:25741915 PMID:25943269 PMID:26086034 PMID:26248470 PMID:26467025 PMID:26467726 PMID:26764407 PMID:27350175 PMID:27549087 PMID:28492532 PMID:28658201 PMID:28780565 PMID:29653220 PMID:29869118 PMID:30126379 PMID:30373780 PMID:30406062 PMID:30586318 PMID:30680856 PMID:30773290 PMID:30962575 PMID:31328266 PMID:31515790 PMID:31924668 PMID:31937884 PMID:32451589 PMID:32604935 PMID:32901917 PMID:33443052 PMID:33712733 PMID:34120753 PMID:36506246 More...
NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
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Jag2
jagged canonical Notch ligand 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,983,059...132,005,665
Ensembl chr 6:131,983,056...132,005,818
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Nudt14
nudix hydrolase 14
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:132,010,309...132,017,298
Ensembl chr 6:132,010,297...132,017,298
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Pacs2
phosphofurin acidic cluster sorting protein 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:132,096,992...132,156,702
Ensembl chr 6:132,096,901...132,154,583
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Pld4
phospholipase D family, member 4
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,818,860...131,827,457
Ensembl chr 6:131,818,860...131,826,376
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Siva1
SIVA1, apoptosis-inducing factor
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,705,323...131,709,697
Ensembl chr 6:131,705,323...131,709,690
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Zbtb42
zinc finger and BTB domain containing 42
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,734,257...131,742,459
Ensembl chr 6:131,738,356...131,742,685
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Ldhal6b
lactate dehydrogenase A-like 6B
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6
ClinVar
PMID:25741868
NCBI chr 1:45,997,845...45,999,268
Ensembl chr 1:45,991,991...45,999,272
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Myo1e
myosin IE
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 PMID:33532864 More...
NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169
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Pax2
paired box 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7
OMIM ClinVar
PMID:3377002 PMID:8589702 PMID:9106533 PMID:10466411 PMID:10533062 PMID:11093271 PMID:11241473 PMID:11461952 PMID:21108633 PMID:21654726 PMID:22213154 PMID:22350371 PMID:23539225 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:27657687 PMID:28492532 PMID:28566479 PMID:31001663 PMID:32203253 PMID:32604935 PMID:32776440 PMID:33532864 PMID:34696790 PMID:35444690 PMID:36549658 More...
NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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Anln
anillin, actin binding protein
ISO
ClinVar Annotator: match by term: ANLN-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8
OMIM ClinVar
PMID:24676636 PMID:25741868 PMID:28492532 PMID:29869118
NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538
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Synpo
synaptopodin
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8
ClinVar
PMID:25741916 PMID:33615071
NCBI chr18:54,048,299...54,106,388
Ensembl chr18:54,026,152...54,102,126
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Crb2
crumbs cell polarity complex component 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9
OMIM ClinVar
PMID:25557779 PMID:25741868 PMID:27004616 PMID:27942854 PMID:28492532 PMID:30212996 PMID:32581362 PMID:33532864 More...
NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
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Trim8
tripartite motif-containing 8
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and neurodevelopmental syndrome | ClinVar Annotator: match by term: TRIM8-related condition
OMIM ClinVar
PMID:25741868 PMID:27346735 PMID:28492532 PMID:29758562 PMID:30244534 PMID:32193649 PMID:32531461 PMID:33508234 PMID:34930159 More...
NCBI chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513
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Ace
angiotensin I converting enzyme
treatment
IMP
RGD
PMID:21718676
RGD:12879389
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ager
advanced glycosylation end product-specific receptor
treatment
ISO
associated with Diabetic Nephropathies
RGD
PMID:23046363 PMID:20554645
RGD:7243247 , RGD:7244139
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agtr1a
angiotensin II receptor, type 1a
IEP
mRNA:decreased expression:kidney
RGD
PMID:12495295
RGD:6903859
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Agtr2
angiotensin II receptor, type 2
IMP ISO IEP
associated with Kidney Failure, Chronic mRNA:increased expression:kidney
RGD
PMID:20042458 PMID:20631980 PMID:12495295
RGD:6903284 , RGD:6903882 , RGD:6903859
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Apoe
apolipoprotein E
IEP IDA
protein:increased expression:renal glomerulus (rat)
RGD
PMID:22207560 PMID:21907828
RGD:6903199 , RGD:6903285
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Col3a1
collagen type III alpha 1 chain
IEP
RGD
PMID:20610530
RGD:7257557
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Esr2
estrogen receptor 2
susceptibility
ISO
protein:decreased expression:renal glomerulus (mouse)
RGD
PMID:12000739
RGD:7364801
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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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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Hbegf
heparin-binding EGF-like growth factor
induced
ISO
RGD
PMID:16107576
RGD:1556472
NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441
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Il1b
interleukin 1 beta
IDA
associated with Hypertension
RGD
PMID:19948880
RGD:7175503
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Mmp1
matrix metallopeptidase 1
IDA IEP
associated with Hyperhomocysteinemia protein:decreased expression:kidney (rat)
RGD
PMID:20406136 PMID:21275176
RGD:7207203 , RGD:7207363
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp9
matrix metallopeptidase 9
IDA IEP
associated with Hyperhomocysteinemia associated with Obesity;mRNA:decreased expression:glomerulus
RGD
PMID:20406136 PMID:9300240
RGD:7207203 , RGD:8547929
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nphs1
NPHS1 adhesion molecule, nephrin
treatment
ISO
RGD
PMID:22125642
RGD:40902998
NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
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Pla2g7
phospholipase A2 group VII
ISO
RGD
PMID:16213192
RGD:7248790
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Plekha7
pleckstrin homology domain containing A7
ameliorates
IMP
compared to wild type
RGD
PMID:25136115 PMID:25136115
RGD:11079199 , RGD:11079199
NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775
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Plekha7em4Mcwi
pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin
ameliorates
IMP
compared to wild type
RGD
PMID:25136115 PMID:25136115
RGD:11079199 , RGD:11079199
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Pparg
peroxisome proliferator-activated receptor gamma
treatment
IDA
RGD
PMID:11318962
RGD:8553043
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Rgs2
regulator of G-protein signaling 2
susceptibility
IEP
associated with Hypertension
RGD
PMID:26606876
RGD:13524570
NCBI chr13:55,799,749...55,802,354
Ensembl chr13:55,798,829...55,802,385
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Rnls
renalase, FAD-dependent amine oxidase
IEP
RGD
PMID:24022426
RGD:7327155
NCBI chr 1:231,037,481...231,309,855
Ensembl chr 1:231,037,486...231,309,823
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Serpine1
serpin family E member 1
treatment
IDA IEP
mRNA, protein:increased expression:kidney (rat)
RGD
PMID:26999660 PMID:27129290
RGD:11073618 , RGD:11073688
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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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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Slc2a1
solute carrier family 2 member 1
ISO
RGD
PMID:19918242
RGD:12879501
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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Spp1
secreted phosphoprotein 1
IEP
RGD
PMID:12675855
RGD:6903837
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Synpo
synaptopodin
treatment
ISO
RGD
PMID:22125642
RGD:40902998
NCBI chr18:54,048,299...54,106,388
Ensembl chr18:54,026,152...54,102,126
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
associated with Hypertension
RGD
PMID:23389459
RGD:7245475
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Tulp3
TUB like protein 3
ISO
ClinVar Annotator: match by term: Hepatorenocardiac degenerative fibrosis
OMIM ClinVar
PMID:25741868 PMID:35397207
NCBI chr 4:161,590,478...161,632,244
Ensembl chr 4:161,590,479...161,632,149
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Slc30a10
solute carrier family 30, member 10
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease | ClinVar Annotator: match by term: Hypermanganesemia with dystonia 1 | ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis
CTD ClinVar OMIM
PMID:11040156 PMID:18392750 PMID:22341971 PMID:22341972 PMID:22926781 PMID:22934317 PMID:25741868 PMID:27117033 PMID:28492532 PMID:30272946 PMID:31594250 PMID:34315874 More...
NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
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Mir494
microRNA 494
ISO
RNA:decreased expression:skin
RGD
PMID:31069607
RGD:155900752
NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793
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Abca3
ATP binding cassette subfamily A member 3
ISO
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:15976379 PMID:17597647 PMID:18024538 PMID:18246475 PMID:18317237 PMID:18603241 PMID:18676873 PMID:22145626 PMID:22304854 PMID:22434821 PMID:22435821 PMID:22800827 PMID:22866751 PMID:23166334 PMID:23625987 PMID:24033266 PMID:24136335 PMID:24871971 PMID:25073622 PMID:25553246 PMID:25741868 PMID:27374344 PMID:27516224 PMID:28034695 PMID:28492532 PMID:28642621 PMID:29431110 PMID:29505158 PMID:29566461 PMID:30609409 PMID:30755392 PMID:31589614 PMID:31980526 PMID:32238781 PMID:32532878 PMID:32692933 PMID:33110422 PMID:33526094 PMID:34132118 PMID:34715861 PMID:35170262 PMID:35626240 More...
NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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Ahrr
aryl-hydrocarbon receptor repressor
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 1:28,993,634...29,088,673
Ensembl chr 1:28,993,634...29,088,673
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Akt1
AKT serine/threonine kinase 1
ISO
mRNA:increased expression:blood plasma (human)
RGD
PMID:31874165
RGD:152995482
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Apoa1
apolipoprotein A1
ISO
protein: decreased expression: respiratory system fluid/secretion
RGD
PMID:20463180
RGD:5508222
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Atp11a
ATPase phospholipid transporting 11A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23583980
NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640
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Bmp1
bone morphogenetic protein 1
ISO
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776
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Brd4
bromodomain containing 4
ISO
RGD
PMID:23759512
RGD:9586353
NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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Brd9
bromodomain containing 9
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 1:29,329,981...29,357,285
Ensembl chr 1:29,329,985...29,357,016
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Ccl12
C-C motif chemokine ligand 12
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28434932
NCBI chr10:67,070,230...67,071,780
Ensembl chr10:67,070,230...67,071,780
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Cep72
centrosomal protein 72
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 1:29,225,312...29,255,294
Ensembl chr 1:29,225,361...29,255,271
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
mRNA,protein:increased expression:lung myofibroblast:
RGD
PMID:22582174
RGD:11341695
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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Ctc1
CST telomere replication complex component 1
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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Cxcl6
C-X-C motif chemokine ligand 6
ISO
DNA:polymorphism:promoter:-156G>C (human) protein:increased expression:lung, macrophage, type II pneumocyte
RGD
PMID:20137269 PMID:11751193
RGD:5135241 , RGD:5135250
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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Ddr1
discoidin domain receptor tyrosine kinase 1
treatment
ISO IMP
mRNA:increased expression:lung (human)
RGD
PMID:30119248 PMID:30119248
RGD:151347411 , RGD:151347411
NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
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Dpp9
dipeptidyl peptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23583980
NCBI chr 9:1,011,347...1,046,337
Ensembl chr 9:1,011,351...1,046,541
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Dsp
desmoplakin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Interstitial lung disease 2
CTD ClinVar
PMID:23583980
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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Dtnbp1
dystrobrevin binding protein 1
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
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Ehmt2
euchromatic histone lysine methyltransferase 2
ISO
RGD
PMID:24652950
RGD:9589169
NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
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Ep300
E1A binding protein p300
treatment
ISO IMP
mRNA:increased expression:lung (human)
RGD
PMID:30119248 PMID:30119248
RGD:151347411 , RGD:151347411
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Esr1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30165855
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Exoc3
exocyst complex component 3
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 1:29,091,298...29,122,056
Ensembl chr 1:29,091,294...29,122,045
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F3
coagulation factor III, tissue factor
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:10946084
RGD:11060143
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Fam13a
family with sequence similarity 13, member A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Interstitial lung disease 2
CTD ClinVar
PMID:23583980
NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860
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Fas
Fas cell surface death receptor
ISO
RGD
PMID:15148335
RGD:11049166
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
ISO
RGD
PMID:15148335
RGD:11049166
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fgfr2
fibroblast growth factor receptor 2
ISO
protein:increased expression:lung (human)
RGD
PMID:29722558
RGD:155791445
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fosl2
FOS like 2, AP-1 transcription factor subunit
ISS
OMIM:178500
MouseDO
NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034
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Gper1
G protein-coupled estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30165855
NCBI chr12:15,217,217...15,222,679
Ensembl chr12:15,217,442...15,221,889
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28434932
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Hps4
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
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Il1rl1
interleukin 1 receptor-like 1
ISO
protein:increased expression:serum
RGD
PMID:14555548
RGD:5144236
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il1rn
interleukin 1 receptor antagonist
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:16199547 PMID:19494218 PMID:21792839 PMID:22940634 PMID:26100510 PMID:28492532 More...
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il2ra
interleukin 2 receptor subunit alpha
ISO
RGD
PMID:21309737
RGD:5147438
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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Lama3
laminin subunit alpha 3
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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Mir184
microRNA 184
ISO
RNA:decreased expression:blood plasma (human)
RGD
PMID:31874165
RGD:152995482
NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210
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Mir31
microRNA 31
ISO
RNA:increased expression:blood plasma (human)
RGD
PMID:31874165
RGD:152995482
NCBI chr 5:103,599,038...103,599,143
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Mmp1
matrix metallopeptidase 1
ISO
protein:increased expression:lung,bronchoalveolar lavage fluid: ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar RGD
PMID:18447576
RGD:4890373
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp19
matrix metallopeptidase 19
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
NCBI chr 7:1,221,229...1,229,555
Ensembl chr 7:1,221,343...1,229,555
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Mmp3
matrix metallopeptidase 3
ISO
mRNA, protein:increased expression:lung CTD Direct Evidence: therapeutic
CTD RGD
PMID:28434932 PMID:21871427
RGD:8694097
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum:
RGD
PMID:22963039
RGD:7244290
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Muc5b
mucin 5B, oligomeric mucus/gel-forming
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2
CTD OMIM ClinVar
PMID:21506741 PMID:21506748 PMID:23321605 PMID:23583980 PMID:23692170 PMID:23695349 PMID:23940607 PMID:24033266 PMID:25741868 PMID:25926289 PMID:28492532 PMID:30345907 More...
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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Nkd2
NKD inhibitor of WNT signaling pathway 2
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 1:29,442,898...29,470,839
Ensembl chr 1:29,441,328...29,470,821
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Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
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Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO
mRNA:increased expression:lung
RGD
PMID:21330466
RGD:5684550
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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Parn
poly(A)-specific ribonuclease
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25848748
NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560
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Parp1
poly (ADP-ribose) polymerase 1
ISO
mRNA,protein:increased expression, increased activity:fibroblast
RGD
PMID:23260200
RGD:10413908
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Pdcd6
programmed cell death 6
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 1:28,966,518...28,982,188
Ensembl chr 1:28,966,518...28,982,189
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18491991
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
DNA:SNPs: :3050G>C, 8473C>T (human) protein:decreased expression:lung:
RGD
PMID:21319594 PMID:14511257 PMID:20203246
RGD:5135280 , RGD:5135507 , RGD:5135461
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:21373184
RGD:5147566
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Rtel1
regulator of telomere elongation helicase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2
CTD ClinVar
PMID:16199547 PMID:23329068 PMID:23453664 PMID:23959892 PMID:24009516 PMID:24033266 PMID:25047097 PMID:25099625 PMID:25607374 PMID:25620558 PMID:25741868 PMID:25848748 PMID:26025130 PMID:28099038 PMID:28492532 PMID:29344583 PMID:36655009 PMID:37392813 More...
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Rtkn2
rhotekin 2
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
NCBI chr20:20,536,628...20,609,951
Ensembl chr20:20,525,256...20,609,951
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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Setd2
SET domain containing 2, histone lysine methyltransferase
exacerbates
ISO
associated with lung squamous cell carcinoma; DNA:mutations:multiple (human)
RGD
PMID:33533494
RGD:150429642
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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Sftpa1
surfactant protein A1
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2 | ClinVar Annotator: match by term: Pulmonary fibrosis, idiopathic, susceptibility to
ClinVar
PMID:13680361 PMID:24033266 PMID:25741868
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Sftpc
surfactant protein C
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2
CTD ClinVar
PMID:14735158 PMID:15039969 PMID:15516475 PMID:15709974 PMID:18383112 PMID:19443464 PMID:19910179 PMID:22308375 PMID:23025826 PMID:23775869 PMID:24033266 PMID:24081995 PMID:24347114 PMID:25657025 PMID:25741868 PMID:25782673 PMID:27362365 PMID:28492532 PMID:33526882 More...
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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Slc12a7
solute carrier family 12 member 7
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 1:29,472,692...29,554,246
Ensembl chr 1:29,472,692...29,554,302
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Slc6a18
solute carrier family 6 member 18
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 1:29,607,288...29,621,925
Ensembl chr 1:29,608,077...29,621,925
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Slc6a19
solute carrier family 6 member 19
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962
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Slc9a3
solute carrier family 9 member A3
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
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Smad2
SMAD family member 2
ISO
mRNA:increased expression:blood plasma (human)
RGD
PMID:31874165
RGD:152995482
NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
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Smad6
SMAD family member 6
ISO
mRNA:decreased expression:blood plasma (human)
RGD
PMID:31874165
RGD:152995482
NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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St14
ST14 transmembrane serine protease matriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26599507
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30481203 PMID:22684844
RGD:6892915
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stn1
STN1 subunit of CST complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23583980
NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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Terc
telomerase RNA component
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2 CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:17392301 PMID:17460043 PMID:23535734
NCBI chr 2:112,815,654...112,816,041
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Tert
telomerase reverse transcriptase
ISO
DNA:deletion, missense mutations, splice-site mutations:multiple ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form | ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar Annotator: match by term: Familial idiopathic pulmonary fibrosis | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:2602487 PMID:9536098 PMID:12629597 PMID:15814878 PMID:15885610 PMID:16199547 PMID:16247010 PMID:16332973 PMID:16627250 PMID:16990594 PMID:17264120 PMID:17392301 PMID:17460043 PMID:17576681 PMID:17785587 PMID:18042801 PMID:18302718 PMID:18460650 PMID:18635888 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19489057 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20022961 PMID:20044353 PMID:20301779 PMID:20502709 PMID:20858879 PMID:20871597 PMID:20966039 PMID:21258621 PMID:21436073 PMID:21483807 PMID:21520173 PMID:21520174 PMID:21543794 PMID:21602826 PMID:21635204 PMID:21931702 PMID:22037553 PMID:22364217 PMID:22424236 PMID:22476886 PMID:22512499 PMID:22664374 PMID:22853774 PMID:22863003 PMID:23066086 PMID:23258901 PMID:23335200 PMID:23348503 PMID:23535731 PMID:23535734 PMID:23538340 PMID:23583980 PMID:23716176 PMID:23901009 PMID:23905534 PMID:24033266 PMID:24833766 PMID:24983628 PMID:25108601 PMID:25271372 PMID:25346280 PMID:25365545 PMID:25393420 PMID:25562321 PMID:25612863 PMID:25640679 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:26158642 PMID:26194807 PMID:26329388 PMID:26365799 PMID:26433962 PMID:26580448 PMID:26887940 PMID:27159321 PMID:27192671 PMID:27354474 PMID:27418648 PMID:27540018 PMID:27622320 PMID:27836952 PMID:27848944 PMID:27854218 PMID:28099038 PMID:28102861 PMID:28104920 PMID:28154186 PMID:28192371 PMID:28492532 PMID:28495683 PMID:28495692 PMID:28677271 PMID:28813500 PMID:28818973 PMID:28873162 PMID:29036293 PMID:29382801 PMID:29463756 PMID:29483670 PMID:29625052 PMID:29749397 PMID:30203795 PMID:30426156 PMID:30523342 PMID:30603600 PMID:30791107 PMID:30995915 PMID:31265491 PMID:31268371 PMID:31395865 PMID:32150348 PMID:32315675 PMID:33035329 PMID:33709208 PMID:33718801 PMID:34019641 PMID:34890115 PMID:35776903 PMID:17392301 More...
RGD:11038666
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tfpi
tissue factor pathway inhibitor
severity
ISO
protein:increased expression:Bronchoalveolar lavage,epithelial cell:
RGD
PMID:10946084
RGD:11060143
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Thbd
thrombomodulin
severity
ISO
RGD
PMID:20418386
RGD:5685036
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Tnf
tumor necrosis factor
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:178500
CTD MouseDO
PMID:8473757
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tollip
toll interacting protein
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625
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Tppp
tubulin polymerization promoting protein
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 1:29,257,111...29,281,134
Ensembl chr 1:29,261,255...29,281,134
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Trip13
thyroid hormone receptor interactor 13
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074
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Wnt5a
Wnt family member 5A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28726637
NCBI chr16:3,697,032...3,718,230
Ensembl chr16:3,697,032...3,718,234
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Zdhhc11
zinc finger, DHHC-type containing 11
ISO
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 1:29,296,334...29,327,227
Ensembl chr 1:29,296,334...29,326,898
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Actrt2
actin-related protein T2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
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Agpat5
1-acylglycerol-3-phosphate O-acyltransferase 5
ISO
ClinVar Annotator: match by term: Keloid formation
ClinVar
PMID:28905881
NCBI chr16:70,939,480...70,985,745
Ensembl chr16:70,943,135...70,985,560
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Arhgdia
Rho GDP dissociation inhibitor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023
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Asah1
N-acylsphingosine amidohydrolase 1
ISO
ClinVar Annotator: match by term: Keloid formation
ClinVar
PMID:28492532 PMID:28905881
NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
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Aspn
asporin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
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Capg
capping actin protein, gelsolin like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 4:104,594,743...104,611,856
Ensembl chr 4:104,594,753...104,611,856
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Clic1
chloride intracellular channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712
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Col1a1
collagen type I alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col3a1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Col5a1
collagen type V alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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Crabp1
cellular retinoic acid binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 8:55,138,363...55,159,360
Ensembl chr 8:55,151,285...55,159,360
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Eif5a
eukaryotic translation initiation factor 5A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
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Fgg
fibrinogen gamma chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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Foxl2
forkhead box L2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20711176
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Fth1
ferritin heavy chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
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Ftl1
ferritin light chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 1:95,936,387...95,938,234
Ensembl chr 1:95,936,387...95,939,725 Ensembl chr10:95,936,387...95,939,725
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Hbb-b1
hemoglobin, beta adult major chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 1:158,224,175...158,231,675
Ensembl chr 1:158,120,200...158,252,012
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Lgals1
galectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345
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Mif
macrophage migration inhibitory factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Mydgf
myeloid-derived growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 9:999,659...1,008,804
Ensembl chr 9:1,000,722...1,008,822
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Myl6b
myosin light chain 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr X:40,572,012...40,572,991
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Nedd4
NEDD4 E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20711176
NCBI chr 8:73,384,095...73,468,951
Ensembl chr 8:73,383,695...73,468,951
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Pfn1
profilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631
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Prdx1
peroxiredoxin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856
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Prdx2
peroxiredoxin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
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Ran
RAN, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr12:27,674,049...27,678,598
Ensembl chr12:27,674,050...27,678,276
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S100a10
S100 calcium binding protein A10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661
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S100a4
S100 calcium-binding protein A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
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S100a8
S100 calcium binding protein A8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
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S100a9
S100 calcium binding protein A9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230
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Serpinb5
serpin family B member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr13:22,985,557...23,005,756
Ensembl chr13:22,985,557...23,005,756
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Serpinf1
serpin family F member 1
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:skin of body (human)
CTD RGD
PMID:20128793 PMID:20128793
RGD:27226709
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Sfn
stratifin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 5:145,826,722...145,827,994
Ensembl chr 5:145,826,201...145,831,314
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Tagln
transgelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
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Tpm1
tropomyosin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
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Tpsb2
tryptase beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20128793
NCBI chr10:14,381,779...14,383,571
Ensembl chr10:14,382,013...14,383,569
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A2m
alpha-2-macroglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26396155
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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Abcb11
ATP binding cassette subfamily B member 11
severity
ISO
associated with Hepatitis C, Chronic;DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human)
RGD
PMID:29755014
RGD:14402415
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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Abcb4
ATP binding cassette subfamily B member 4
severity susceptibility
ISO
CTD Direct Evidence: marker/mechanism associated with cholestasis;DNA:mutations: : associated with cystic fibrosis;DNA:SNP:exon:c.504T>C(human)
CTD RGD
PMID:8698195 PMID:18221819 PMID:18482588 PMID:19467940
RGD:14694975 , RGD:4889446
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Ace
angiotensin I converting enzyme
treatment severity no_association
IEP ISO
associated with Chronic Hepatitis B;protein:increased expression:blood serum (human) associated with hepatitis C;DNA:insertion/deletion: associated with liver disease;DNA:insertion/deletion:
RGD
PMID:29335866 PMID:29085215 PMID:19456900 PMID:26681055 PMID:28822808
RGD:25671453 , RGD:40400898 , RGD:39939123 , RGD:11537135 , RGD:25671454
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24239723 PMID:24321339 PMID:30097701 PMID:32659284
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
severity
ISO
protein:increased expression, increased activity:liver (rat)
RGD
PMID:16689760
RGD:1598737
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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Adar
adenosine deaminase, RNA-specific
ameliorates
ISO
associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNPs:exon 2, 3' utr:multiple (human)
RGD
PMID:29018269
RGD:125097516
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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Adipoq
adiponectin, C1Q and collagen domain containing
severity
ISO
protein:increased expression:plasma
RGD
PMID:16115302
RGD:5686674
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adipor2
adiponectin receptor 2
ISO
mRNA:decreased expression:liver (mouse)
RGD
PMID:17006986
RGD:1599139
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
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Adra1a
adrenoceptor alpha 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16782692
NCBI chr15:40,830,125...40,935,902
Ensembl chr15:40,832,534...40,927,500
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Ager
advanced glycosylation end product-specific receptor
ISO
mRNA:decreased expression:lung (liver)
RGD
PMID:22669512
RGD:7245533
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agt
angiotensinogen
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15613622 PMID:21873937
RGD:8549465
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29416063
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Akap12
A-kinase anchoring protein 12
IEP
mRNA,protein:increased expression:liver
RGD
PMID:23925424
RGD:14348971
NCBI chr 1:40,730,123...40,819,863
Ensembl chr 1:40,730,123...40,819,886
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Alad
aminolevulinate dehydratase
ISO IEP
CTD Direct Evidence: marker/mechanism protein:decreased activity:liver (human)
CTD RGD
PMID:25226513 PMID:6848403
RGD:15042852
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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Alb
albumin
disease_progression
ISO
associated with Head and Neck Neoplasms; CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17977396 PMID:21851314 PMID:23285146
RGD:11035282
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Anks6
ankyrin repeat and sterile alpha motif domain containing 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23793029
NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
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Apoa1
apolipoprotein A1
ISO
protein:decreased expression:serum (human)
RGD
PMID:27106140
RGD:25671439
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Arnt
aryl hydrocarbon receptor nuclear translocator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22271822
NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
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Arrb1
arrestin, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26396155
NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061
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Arrb2
arrestin, beta 2
ISO
protein:increased expression:hepatic artery
RGD
PMID:17256744
RGD:1625784
NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
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Atg5
autophagy related 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33549628
NCBI chr20:47,798,217...47,889,216
Ensembl chr20:47,798,290...47,889,209
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Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36526012
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atp7b
ATPase copper transporting beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25134866
NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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Axin1
axin 1
ISO
protein:decreased expression:liver (human)
RGD
PMID:31514071
RGD:150530482
NCBI chr10:15,163,477...15,215,615
Ensembl chr10:15,163,684...15,215,615
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Azgp1
alpha-2-glycoprotein 1, zinc-binding
ISO IEP
associated with hepatocellular carcinoma;protein:decreased expression:liver: mRNA:decreased expression:liver
RGD
PMID:22625427 PMID:26902423
RGD:153350130 , RGD:153350133
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
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Azin1
antizyme inhibitor 1
ISO
associated with hepatitis B;DNA SNP: :rs2679757 (human) associated with hepatocellular carcinoma;RNA:increased editing:liver
RGD
PMID:21586232 PMID:23291631
RGD:14700702 , RGD:14700705
NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578
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Bambi
BMP and activin membrane-bound inhibitor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30097701
NCBI chr17:54,121,251...54,125,816
Ensembl chr17:54,121,255...54,126,060
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Becn1
beclin 1
ISO
protein:increased expression:skeletal muscle
RGD
PMID:22895779
RGD:11561934
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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C1qb
complement C1q B chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26396155
NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407
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C5
complement C5
disease_progression
ISO
associated with Hepatitis C, Chronic;DNA:SNPs: :rs17611, rs2300929 (human)
RGD
PMID:15995705
RGD:1600592
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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Casp3
caspase 3
ISO
associated with cholestasis
RGD
PMID:29105510
RGD:13782297
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp8
caspase 8
ISO
associated with cholestasis
RGD
PMID:29105510
RGD:13782297
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Casp9
caspase 9
ISO
associated with cholestasis
RGD
PMID:29105510
RGD:13782297
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Ccl2
C-C motif chemokine ligand 2
ISO IEP
CTD Direct Evidence: marker/mechanism associated with chronic intermittent hypoxia; mRNA, protein:increased expression:liver (rat)
CTD RGD
PMID:20697377 PMID:32626927
RGD:401959337
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl5
C-C motif chemokine ligand 5
severity treatment
ISO
DNA:SNAP, haplotype: :rs11652536(human)
RGD
PMID:28011329 PMID:20978355 PMID:28011329
RGD:14995306 , RGD:14995328 , RGD:14995306
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccn2
cellular communication network factor 2
ameliorates
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16652398 PMID:17657819 PMID:26396155 PMID:36469291 PMID:36469291 PMID:26946098 More...
RGD:243048439 , RGD:243048439 , RGD:40925947
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Ccnd2
cyclin D2
ISO
associated with hepatitis B;mRNA:decreased expression:Peripheral Blood Mononuclear Cell
RGD
PMID:33320844
RGD:151664743
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Ccr1
C-C motif chemokine receptor 1
ISO
associated with Fatty Liver
RGD
PMID:19280268
RGD:5688143
NCBI chr 8:123,556,286...123,561,841
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Cd14
CD14 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20353583
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cd163
CD163 molecule
exacerbates
ISO
associated with Chronic Hepatitis B, Chronic Hepatitis C;protein:increased expression:blood plasma (human) protein:increased expression:blood serum (human)
RGD
PMID:24623375 PMID:26339412
RGD:127285681 , RGD:11251207
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd36
CD36 molecule
ISO
associated with Hypertension, Portal
RGD
PMID:22648712
RGD:6893541
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cd9
CD9 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26396155
NCBI chr 4:158,256,328...158,289,136
Ensembl chr 4:158,256,328...158,289,222
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32659284
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cenpc
centromere protein C
ISO
associated with Anticentromere antibody positivity
RGD
PMID:25220385
RGD:27372886
NCBI chr14:21,988,067...22,046,732
Ensembl chr14:21,988,144...22,055,476
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Chrm3
cholinergic receptor, muscarinic 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20197374
NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
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Cldn1
claudin 1
severity
IEP
associated with hepatitis C, Chronic;mRNA,protein:increased expression:liver (human)
RGD
PMID:21620107
RGD:26884347
NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
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Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11433348 PMID:21863215
NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
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Cnr2
cannabinoid receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15765409
NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
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Col1a1
collagen type I alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21863215 PMID:24239723 PMID:24321339 PMID:26396155 PMID:32659284
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col1a2
collagen type I alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26396155
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Col3a1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1880254 PMID:2566230 PMID:11167689 PMID:15787813 PMID:16679477
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Col5a2
collagen type V alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26396155
NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154
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Commd1
copper metabolism domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17919502
NCBI chr14:96,880,463...96,984,494
Ensembl chr14:96,880,463...96,984,501
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Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513 PMID:26396155
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Cpeb1
cytoplasmic polyadenylation element binding protein 1
ISO
associated with Hepatitis C, Chronic; protein:increased expression:liver
RGD
PMID:26627607
RGD:11528851
NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
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Cpeb4
cytoplasmic polyadenylation element binding protein 4
ISO
associated with Hepatitis C, Chronic; protein:increased expression:liver
RGD
PMID:26627607
RGD:11528851
NCBI chr10:15,717,794...15,780,482
Ensembl chr10:15,717,794...15,780,603
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Crp
C-reactive protein
ISO
associated with Hepatitis C, Chronic;protein:decreased expression:serum
RGD
PMID:21806828
RGD:9491781
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Csf1r
colony stimulating factor 1 receptor
exacerbates
ISO
associated with hepatitis C, liver cirrhosis;protein:increased expression:serum (human)
RGD
PMID:26437001
RGD:11079330
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21047994
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Cxcl10
C-X-C motif chemokine ligand 10
severity disease_progression
ISO
mRNA:increased expression:liver associated with Chronic Hepatitis B;
RGD
PMID:11418676 PMID:28067328 PMID:29105936
RGD:27095892 , RGD:27095955 , RGD:27095953
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl14
C-X-C motif chemokine ligand 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33069761
NCBI chr17:8,317,930...8,325,956
Ensembl chr17:8,317,933...8,324,839
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Cyba
cytochrome b-245 alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Cygb
cytoglobin
IMP IEP
RGD
PMID:16581302 PMID:11320098
RGD:9685176 , RGD:68672
NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442
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Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27565560
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
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Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24381012
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24381012
NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
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Dgat1
diacylglycerol O-acyltransferase 1
treatment
ISO
associated with Non-alcoholic Fatty Liver Disease;
RGD
PMID:18000880
RGD:10400849
NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
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Dhcr7
7-dehydrocholesterol reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24381012
NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
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Dnmt1
DNA methyltransferase 1
IEP
mRNA,protein:increased expression:liver:
RGD
PMID:24211420
RGD:9588224
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Drd4
dopamine receptor D4
disease_progression
ISO
DNA:repeats:exon:
RGD
PMID:23298155
RGD:401959737
NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
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Edn1
endothelin 1
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:20628429
RGD:4144843
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Egfr
epidermal growth factor receptor
severity
ISO
associated with non-alcoholic fatty liver disease;protein:increased expression:plasma
RGD
PMID:28650518
RGD:14401722
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Egr1
early growth response 1
IEP
protein:increased expression:liver, nucleus
RGD
PMID:22292946
RGD:10395298
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Eln
elastin
severity
IEP
protein:increased expression:liver:
RGD
PMID:22223197
RGD:9585666
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Entpd2
ectonucleoside triphosphate diphosphohydrolase 2
ISO
associated with hepatitis C
RGD
PMID:15651265
RGD:9685530
NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
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Ephb2
Eph receptor B2
ameliorates
ISO
associated with malaria;
RGD
PMID:25784101
RGD:127285023
NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
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F2
coagulation factor II, thrombin
severity
ISO
CTD Direct Evidence: marker/mechanism protein:decreased activity:plasma (human) protein:decreased expression:plasma (human) protein:increased expression:plasma (human)
CTD RGD
PMID:10216089 PMID:15726661 PMID:29768734 PMID:9863491
RGD:14985236 , RGD:14985235 , RGD:14401592
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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F2r
coagulation factor II (thrombin) receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21037076
NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870
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F3
coagulation factor III, tissue factor
severity treatment
ISO
mRNA, protein:increased expression, increased activity:monocyte (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10216089 PMID:21037076 PMID:9863491 PMID:15946135 PMID:28883694
RGD:11341737 , RGD:14401592 , RGD:14401577 , RGD:14401724
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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F5
coagulation factor V
disease_progression susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18485088 PMID:10520855 PMID:26226452
RGD:14700663 , RGD:14700659
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Fah
fumarylacetoacetate hydrolase
IMP
RGD
PMID:27510266
RGD:14398823
NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505
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Fahem15Dlli-/-
fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 15, Dlli
IMP
after NTBC withdrawal in the drinking water
RGD
PMID:27510266
RGD:14398823
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Farsb
phenylalanyl-tRNA synthetase subunit beta
ISO
ClinVar Annotator: match by term: Liver cirrhosis
ClinVar
PMID:29979980
NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045
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Fbn1
fibrillin 1
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26396155 PMID:14661032
RGD:12910489
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Fgf19
fibroblast growth factor 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28673684
NCBI chr 1:200,056,526...200,060,980
Ensembl chr 1:200,056,644...200,060,287
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17093919
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Fgf7
fibroblast growth factor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17692400
NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
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Fgfr2
fibroblast growth factor receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17692400
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fgfr4
fibroblast growth factor receptor 4
ISO
associated with hepatocellular carcinoma; DNA:SNP:cds: p.G388R (rs351855) (human)
RGD
PMID:25860955
RGD:11057080
NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
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Flt1
Fms related receptor tyrosine kinase 1
IEP ISO
mRNA:increased expressin:liver: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11981751 PMID:11981751
RGD:634296
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Focad
focadhesin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35864190
NCBI chr 5:102,564,560...102,886,587
Ensembl chr 5:102,564,598...102,886,582
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Foxo3
forkhead box O3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33372984
NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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Fubp1
far upstream element binding protein 1
ISO
associated with Chronic Hepatitis C;mRNA:increased expression:liver (human)
RGD
PMID:25995247
RGD:151361196
NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602
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Gc
GC, vitamin D binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24381012
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Gch1
GTP cyclohydrolase 1
IEP
mRNA, protein:decreased expression:liver
RGD
PMID:16799985
RGD:329970289
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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Gclc
glutamate-cysteine ligase, catalytic subunit
IMP
RGD
PMID:22942279
RGD:11049542
NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
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Gdf1
growth differentiation factor 1
disease_progression
ISO
associated with Stable Angina; protein:decreased expression:blood plasma (human)
RGD
PMID:36268984
RGD:243065147
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
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Ggt1
gamma-glutamyltransferase 1
disease_progression severity
ISO
associated with Hepatitis B, Chronic;
RGD
PMID:27793641 PMID:25254524 PMID:15997630
RGD:14701041 , RGD:14747031 , RGD:14747030
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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Gli3
GLI family zinc finger 3
ISO
mRNA:increased expression:serum:
RGD
PMID:32319630
RGD:155791681
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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Glul
glutamate-ammonia ligase
severity
ISO
associated with congestive heart failure
RGD
PMID:30950843
RGD:401793761
NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108
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Golm1
golgi membrane protein 1
ISO
protein:increased expression:serum
RGD
PMID:21140449
RGD:401827118
NCBI chr17:4,995,925...5,044,329
Ensembl chr17:4,996,104...5,034,057
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Gp1ba
glycoprotein Ib platelet subunit alpha
treatment
ISO
RGD
PMID:31851564
RGD:42722628
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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Gpc3
glypican 3
ISO
protein:increased expression:blood serum (human)
RGD
PMID:28801286
RGD:243065135
NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798
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Gpt
glutamic--pyruvic transaminase
severity
ISO
associated with Hepatitis B, Chronic;
RGD
PMID:30665287
RGD:14975252
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
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Grk2
G protein-coupled receptor kinase 2
ISO
associated with hepatitis B;protein:increased expression:mesenteric artery (human) protein:increased expression:hepatic artery
RGD
PMID:23742775 PMID:17256744
RGD:13792718 , RGD:1625784
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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Gstm1
glutathione S-transferase mu 1
IEP ISO
protein:decreased expression:liver (rat) associated with Hepatitis C, Chronic
RGD
PMID:20141739 PMID:26548378
RGD:7771534 , RGD:11097429
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstt1
glutathione S-transferase theta 1
ISO
associated with Hepatitis C, Chronic
RGD
PMID:26548378
RGD:11097429
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hdac2
histone deacetylase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27396813
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
G
Hfe
homeostatic iron regulator
ISO
DNA:missense mutations: :p.H63D, p.C282Y (human)
RGD
PMID:27816425
RGD:14701047
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17097021
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Hhip
Hedgehog-interacting protein
ISO
mRNA:decreased expression:liver:
RGD
PMID:19815628
RGD:11552602
NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36126797
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
G
Hnf4a
hepatocyte nuclear factor 4, alpha
ISO
protein:decreased expression:liver:
RGD
PMID:20876809
RGD:12904747
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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Hp
haptoglobin
ISO
associated with Hepatitis C, Chronic;protein:decreased expression:serum
RGD
PMID:21806828
RGD:9491781
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Hras
HRas proto-oncogene, GTPase
ISO
mRNA:increased expression:liver (human)
RGD
PMID:7535324
RGD:14694815
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
G
Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15199296
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
G
Icam1
intercellular adhesion molecule 1
susceptibility
ISO IEP
associated with Hepatitis B, Chronic;DNA:missense mutations, haplotype:cds:p.G241R, p.K469E (human) associated with chronic intermittent hypoxia; mRNA, protein:increased expression:liver (rat)
RGD
PMID:18233990 PMID:32626927
RGD:14402042 , RGD:401959337
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ido2
indoleamine 2,3-dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32289347
NCBI chr16:67,459,158...67,498,052
Ensembl chr16:67,459,190...67,496,324
G
Ifna1
interferon, alpha 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18665156
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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Ifng
interferon gamma
ISO
RGD
PMID:21664391 PMID:12389079
RGD:6893452 , RGD:10755749
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ifnl3
interferon, lambda 3
treatment
ISO
associated with Hepatitis C;DNA:SNP: :rs8099917 (human)
RGD
PMID:23145809
RGD:11528558
NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
G
Igf1r
insulin-like growth factor 1 receptor
susceptibility
ISO
associated with Hepatis B virus;DNA:SNP:3'UTR:rs3743251(human)
RGD
PMID:24758241
RGD:14985227
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Igf2
insulin-like growth factor 2
severity
ISO
associated with non-alcoholic fatty liver disease;protein:decreased expression:plasma
RGD
PMID:28650518
RGD:14401722
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
G
Igfbp1
insulin-like growth factor binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26396155
NCBI chr14:82,047,415...82,052,482
Ensembl chr14:82,047,415...82,052,482
G
Igfbp2
insulin-like growth factor binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26396155
NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937
G
Il10
interleukin 10
severity no_association
ISO
associated with Hepatitis C, Chronic;DNA:SNP:promoter:-592C>A (human) DNA:SNP:promoter:-592C>A (rs1800872) (human) DNA:SNP:promoter:-1082G>A (rs1800896) (human) associated with Hepatitis C, Chronic;DNA:SNP:promoter:-1082 G>A (human)
RGD
PMID:27660094 PMID:26909998 PMID:26909998 PMID:27660094
RGD:14975134 , RGD:14975152 , RGD:14975152 , RGD:14975134
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il18
interleukin 18
severity
ISO
protein:increased expression:plasma: associated with Hepatitis C, Chronic;mRNA:increased expression:PBMC:
RGD
PMID:12462332 PMID:19740312 PMID:19740312
RGD:14695542 , RGD:14696656 , RGD:14696656
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il18bp
interleukin 18 binding protein
disease_progression
ISO
protein:increased expression:plasma:
RGD
PMID:12462332
RGD:14695542
NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
G
Il1b
interleukin 1 beta
IEP
associated with chronic intermittent hypoxia; mRNA, protein:increased expression:liver (rat)
RGD
PMID:32626927
RGD:401959337
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rl1
interleukin 1 receptor-like 1
severity
ISO
associated with Schistosomiasis Japonica
RGD
PMID:31200771
RGD:39938956
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
G
Il2
interleukin 2
treatment
ISO
associated with sclerosing cholangitis
RGD
PMID:29698570
RGD:14928214
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Il21
interleukin 21
exacerbates
ISO
associated with Chronic Hepatitis B;mRNA:increased expression: liver (human)
RGD
PMID:24611989
RGD:127285546
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
G
Il27
interleukin 27
ISO
associated with hepatitis B;protein:increased expression:blood serum (human)
RGD
PMID:22230324
RGD:126790507
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
G
Il33
interleukin 33
severity
ISO
associated with Schistosomiasis Japonica
RGD
PMID:31200771 PMID:31053540
RGD:39938956 , RGD:40400690
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12830005
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Irf5
interferon regulatory factor 5
severity
ISO
RGD
PMID:27942586 PMID:27942586
RGD:40924562 , RGD:40924562
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
G
Itgb6
integrin subunit beta 6
disease_progression
ISO
associated with Hepatitis C, Chronic;mRNA:increased expression:liver
RGD
PMID:18221819
RGD:2302245
NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
G
Itih4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
associated with hepatitis B;protein:increased expression:serum
RGD
PMID:24836184
RGD:40903002
NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
G
Jak1
Janus kinase 1
treatment
ISO
associated with Schistosomiasis Japonica
RGD
PMID:27439782
RGD:19165137
NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
G
Jak2
Janus kinase 2
severity
IEP
mRNA:increased expression:liver (human)
RGD
PMID:26385087
RGD:18337263
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
G
Jund
JunD proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17133482
NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799
G
Kdr
kinase insert domain receptor
disease_progression
ISO
associated with Chronic Hepatitis
RGD
PMID:27323788
RGD:126908000
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Klf5
KLF transcription factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33549628
NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
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Klkb1
kallikrein B1
IEP
RGD
PMID:14986822
RGD:7297050
NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
G
Krt18
keratin 18
severity
ISO
protein:increased expression: serum (human) CTD Direct Evidence: therapeutic
CTD RGD
PMID:20538000 PMID:9011570 PMID:29023872
RGD:1624318 , RGD:18337484
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
G
Krt8
keratin 8
ISO
protein:increased phosphorylation:liver (human) CTD Direct Evidence: therapeutic
CTD RGD
PMID:20538000 PMID:11372009 PMID:15368451
RGD:1600062 , RGD:14401583
NCBI chr 7:133,124,203...133,131,656
Ensembl chr 7:133,124,203...133,131,728
G
Lamc2
laminin subunit gamma 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26396155
NCBI chr13:65,284,664...65,344,164
Ensembl chr13:65,284,664...65,344,200
G
Lbp
lipopolysaccharide binding protein
IEP
protein:increased expression:liver
RGD
PMID:17918268
RGD:2292126
NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586
G
Ldlr
low density lipoprotein receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36108984
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
G
Lgals1
galectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26396155
NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345
G
Lgals3
galectin 3
ISO
RGD
PMID:16549783
RGD:9685224
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
G
Lgals3bp
galectin 3 binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26396155
NCBI chr10:103,619,912...103,629,251
Ensembl chr10:103,619,908...103,629,256
G
Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26396155
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
G
Loxl1
lysyl oxidase-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30097701
NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356
G
Lum
lumican
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26396155
NCBI chr 7:32,358,990...32,365,794
Ensembl chr 7:32,358,614...32,365,793
G
Map1lc3a
microtubule-associated protein 1 light chain 3 alpha
ISO
protein:increased expression:skeletal muscle
RGD
PMID:22895779
RGD:11561934
NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
G
Mapk14
mitogen activated protein kinase 14
exacerbates
ISO
RGD
PMID:23271722
RGD:151665348
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
G
Mbl2
mannose binding lectin 2
severity susceptibility
ISO
associated with hepatitis C; DNA:haplotype:promoter, exon: associated with hepatitis B;DNA:SNP:exon:
RGD
PMID:20570631 PMID:26857650
RGD:14696832 , RGD:14696836
NCBI chr 1:228,016,439...228,024,736
G
Mgll
monoglyceride lipase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30301768
NCBI chr 4:121,192,186...121,294,187
Ensembl chr 4:121,192,195...121,294,179
G
Mical2
microtubule associated monooxygenase, calponin and LIM domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32659284
NCBI chr 1:166,345,853...166,530,575
Ensembl chr 1:166,345,859...166,471,719 Ensembl chr 1:166,345,859...166,471,719
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Mir122
microRNA 122
ISO
mRNA:decreased expression:blood (human)
RGD
PMID:27528885
RGD:151361113
NCBI chr18:58,758,703...58,758,787
G
Mir126a
microRNA 126a
ISO
RNA:increased expression:duodenum
RGD
PMID:22574900
RGD:401850781
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
G
Mir145
microRNA 145
IEP
miRNA:decreased expression:liver (human)
RGD
PMID:27289031
RGD:15039397
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
G
Mir146a
microRNA 146a
exacerbates
ISO
associated with hepatitis B;miRNA:increased expression:liver (human) associated with hepatitis B; miRNA:decreased expression: liver, peripheral blood mononuclear cell, blood serum (human)
RGD
PMID:25805734 PMID:31086599
RGD:126925149 , RGD:126925162
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
G
Mir152
microRNA 152
ISO
miRNA:decreased expression:serum
RGD
PMID:31258681
RGD:19165153
NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020
G
Mir153
microRNA 153
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 6:138,163,595...138,163,681
Ensembl chr 6:138,163,595...138,163,681
G
Mir155
microRNA 155
ISO
RGD
PMID:29420849
RGD:21409750
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
G
Mir193a
microRNA 193a
ISO
associated with hepatocellular carcinoma; RNA:decreased expression:liver (human)
RGD
PMID:24330766
RGD:153344567
NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
G
Mir200a
microRNA 200a
IEP
RNA:decreased expression:liver:
RGD
PMID:32319630
RGD:155791681
NCBI chr 5:166,648,494...166,648,582
G
Mir200b
microRNA 200b
treatment
ISO
associated with primary sclerosing cholangitis;
RGD
PMID:28634212
RGD:14928323
NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
G
Mir21
microRNA 21
onset treatment disease_progression ameliorates
IEP ISO
associated with nonalcoholic fatty liver disease;miRNA:increased expression:liver, plasma associated with chronic hepatitis B
RGD
PMID:27320964 PMID:30419452 PMID:30147020 PMID:20625373 PMID:26946098
RGD:14695024 , RGD:41404717 , RGD:41404701 , RGD:41404667 , RGD:40925947
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
G
Mir221
microRNA 221
ISO
RNA:increased expression:liver
RGD
PMID:22267590
RGD:151709001
NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573
G
Mir222
microRNA 222
ISO
RNA:increased expression:liver
RGD
PMID:22267590
RGD:151709001
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
G
Mir223
microRNA 223
severity
ISO
associated with Chronic Hepatitis C; associated with Chronic Hepatitis B; RNA:decreased expression:serum: associated with Chronic HepatitisC; RNA:decreased expression:serum: RNA:altered expression:serum,liver
RGD
PMID:28211229 PMID:24595450 PMID:25391771 PMID:28646120
RGD:21408569 , RGD:21408583 , RGD:21408580 , RGD:21408574
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Mir30a
microRNA 30a
ISO
RNA:decreased expression:liver
RGD
PMID:29587268
RGD:35673290
NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
G
Mir30b
microRNA 30b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 7:100,132,589...100,132,675
Ensembl chr 7:100,132,589...100,132,675
G
Mir30c1
microRNA 30c-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 5:134,349,237...134,349,325
Ensembl chr 5:134,349,237...134,349,325
G
Mir30c2
microRNA 30c-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 9:25,757,342...25,757,425
Ensembl chr 9:25,757,342...25,757,425
G
Mir345
microRNA 345
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:36126797
NCBI chr 6:127,754,027...127,754,122
Ensembl chr 6:127,754,027...127,754,122
G
Mir3545
microRNA 3545
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:32659284
NCBI chr 6:131,199,542...131,199,656
Ensembl chr 6:131,199,542...131,199,656
G
Mir503
microRNA 503
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr X:132,806,303...132,806,373
Ensembl chr X:132,806,303...132,806,373
G
Mir764
microRNA 764
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr X:110,678,597...110,678,704
Ensembl chr X:110,678,597...110,678,704
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Mmp1
matrix metallopeptidase 1
severity
IDA IEP
protein:decreased expression:serum (rat)
RGD
PMID:16124044 PMID:14606082
RGD:7207132 , RGD:7207396
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
G
Mmp13
matrix metallopeptidase 13
ISO
RGD
PMID:21382168
RGD:7207361
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
G
Mmp2
matrix metallopeptidase 2
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15763341 PMID:26396155 PMID:23411180
RGD:8657103
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mpo
myeloperoxidase
disease_progression
ISO
DNA:SNP:promoter:-463G>A( rs2333227)(human)
RGD
PMID:19731237
RGD:26923907
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNP: :677C>T(human)
RGD
PMID:25987440
RGD:14696749
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Muc2
mucin 2, oligomeric mucus/gel-forming
IEP
mRNA:increased expression:ileum
RGD
PMID:22172882
RGD:7349362
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
G
Muc3
mucin 3
IEP
mRNA:increased expression:ileum
RGD
PMID:22172882
RGD:7349362
NCBI chr12:19,527,251...19,536,924
Ensembl chr12:19,527,321...19,538,522
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO
mRNA,protein:increased expression:liver
RGD
PMID:23770341
RGD:14695015
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
G
Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
IDA ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:23793039 PMID:22732220
RGD:10412731
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
G
Nos3
nitric oxide synthase 3
treatment
IEP IDA
protein:decreased activity:liver (rat)
RGD
PMID:10535886 PMID:12759254
RGD:7775034 , RGD:7794774
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Npc1
NPC intracellular cholesterol transporter 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22216111
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
G
Nppa
natriuretic peptide A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15613622
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
G
Nppb
natriuretic peptide B
severity
ISO
protein:increased expression:plasma:
RGD
PMID:9350073 PMID:23940514
RGD:7246914 , RGD:7248670
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
G
Nqo1
NAD(P)H quinone dehydrogenase 1
treatment
IDA
RGD
PMID:29078262
RGD:13442479
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
G
Nr1h4
nuclear receptor subfamily 1, group H, member 4
treatment severity
IEP ISO
mRNA:altered expression:liver, kidney (rat) mRNA:altered expression:liver (mouse)
RGD
PMID:30308196 PMID:19418582
RGD:15042865 , RGD:15042868
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
G
Obp3
alpha-2u globulin PGCL4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 5:74,842,316...74,845,858
Ensembl chr 5:74,842,316...74,845,757
G
P2rx7
purinergic receptor P2X 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32721574
NCBI chr12:33,889,709...33,934,168
Ensembl chr12:33,879,745...33,934,619
G
Parp1
poly (ADP-ribose) polymerase 1
ISO
associated with Hepatitis B;mRNA:decreased expression:blood, mononuclear cell
RGD
PMID:25755481
RGD:11073733
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
G
Pcolce
procollagen C-endopeptidase enhancer
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26396155
NCBI chr12:19,084,191...19,090,508
Ensembl chr12:19,084,210...19,090,508
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Pdcd10
programmed cell death 10
ISO
protein:increased expression:liver (human)
RGD
PMID:32186778
RGD:401827111
NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
G
Pdgfb
platelet derived growth factor subunit B
IEP
mRNA: increased expression
RGD
PMID:22539040 PMID:22407906
RGD:6482830 , RGD:6482858
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
G
Pdgfd
platelet derived growth factor D
IEP
mRNA,protein:increased expression:liver:
RGD
PMID:17397961
RGD:9854631
NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
G
Pdia3
protein disulfide isomerase family A, member 3
severity
ISO IEP
protein:decreased expression:liver:
RGD
PMID:24562544 PMID:24562544
RGD:9999176 , RGD:9999176
NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
G
Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:increased expression:blood microparticle (human)
RGD
PMID:22465620
RGD:6771231
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
G
Pemt
phosphatidylethanolamine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29416063
NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
G
Pgf
placental growth factor
ISO
mRNA, protein:increased expression:liver, serum
RGD
PMID:21520176
RGD:6483607
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
G
Phkg2
phosphorylase kinase catalytic subunit gamma 2
ISO
DNA:missense mutation, nonsense mutation (human)
RGD
PMID:9384616
RGD:737725
NCBI chr 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124
G
Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
treatment
IMP
associated with Schistosomiasis Japonica
RGD
PMID:29323718
RGD:38599216
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
G
Pkhd1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
ISO
DNA:deletion:exon:
RGD
PMID:17519956
RGD:14700917
NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
G
Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:18481824 PMID:26396155
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
G
Plaur
plasminogen activator, urokinase receptor
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:22098627
RGD:6484116
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
G
Plod2
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26396155
NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
G
Pnpla3
patatin-like phospholipase domain containing 3
severity disease_progression
ISO
associated with non-alcoholic fatty liver disease:DNA:SNP: :rs738409 (p.I148M) (human) associated with type 2 diabetes mellitus;DNA:SNP: :rs738409 (p.I148M) (human) associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)
RGD
PMID:20648474 PMID:31377187 PMID:29674183
RGD:14981584 , RGD:14981594 , RGD:14981591
NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077
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Postn
periostin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32344006
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
G
Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism associated with schistosomiasis;protein, mRNA:decreased expression:liver (mouse)
CTD RGD
PMID:26023714 PMID:31907686
RGD:127285596
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Ptgs2
prostaglandin-endoperoxide synthase 2
severity
ISO
human gene in mouse model
RGD
PMID:29109031
RGD:14695008
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptn
pleiotrophin
IEP
protein:increased expression:liver (rat)
RGD
PMID:18381592
RGD:9834946
NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456
G
Rad50
RAD50 double strand break repair protein
treatment
IDA
RGD
PMID:21893185
RGD:9831391
NCBI chr10:37,809,353...37,861,309
Ensembl chr10:37,808,726...37,861,396
G
Rbp4
retinol binding protein 4
severity
ISO
associated with lived disease; protein:decreased expression:blood serum (human)
RGD
PMID:17337499
RGD:329845879
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
G
Reg3b
regenerating family member 3 beta
ISO
protein:increased expression:serum (human)
RGD
PMID:10550309
RGD:9831380
NCBI chr 4:110,861,775...110,865,015
Ensembl chr 4:110,861,775...110,865,015
G
Rela
RELA proto-oncogene, NF-kB subunit
IEP
associated with chronic intermittent hypoxia; mRNA, protein:increased expression:liver (rat)
RGD
PMID:32626927
RGD:401959337
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Reln
reelin
ISO
protein:altered expression:plasma (human)
RGD
PMID:18449964
RGD:2317777
NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
G
Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15613622
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Rgn
regucalcin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr X:1,619,030...1,634,456
Ensembl chr X:1,619,032...1,634,450
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Rgs2
regulator of G-protein signaling 2
IEP
RGD
PMID:19003918
RGD:10449440
NCBI chr13:55,799,749...55,802,354
Ensembl chr13:55,798,829...55,802,385
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
associated with Hepatitis C, Chronic;DNA:SNPs: :rs910049, rs3135363(human) associated with hepatitis B;DNA:polymorphism: :HLA-DQA1*0104 (human)
RGD
PMID:23321320 PMID:17845309
RGD:14401563 , RGD:126925986
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
associated with Schistosomiasis Japonica;DNA:polymorphisms: :HLA-DQB1*0303, HLA-DQB1*0601, HLA-DQB1*0609(human)
RGD
PMID:11336748
RGD:36049755
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
associated with Schistosomiasis Japonica;DNA:polymorphisms: :HLA-DRB1*0901, HLA-DRB1*1302, HLA-DRB1*1501(human)
RGD
PMID:11336748
RGD:36049755
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-Ha
RT1 class II, locus Ha
severity
ISO
DAN:polymorphism: :
RGD
PMID:10203020
RGD:14694972
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
G
Serpina1
serpin family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:3485248 PMID:20511674 PMID:25579632 PMID:20522742
RGD:14695525
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
G
Serpina6
serpin family A member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 6:122,780,040...122,790,274
Ensembl chr 6:122,780,043...122,790,349
G
Serpine1
serpin family E member 1
susceptibility
ISO
DNA:polymorphism:promoter:
RGD
PMID:25987440
RGD:14696749
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Serping1
serpin family G member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26396155
NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
G
Serpinh1
serpin family H member 1
disease_progression treatment
ISO
CTD Direct Evidence: marker/mechanism associated with Schistosomiasis Japonica associated with Schistosomiasis Japonica;mRNA:increased expression:liver (human) associated with schistosomiasis;mRNA:increased expression:liver (human)
CTD RGD
PMID:24321339 PMID:31612672 PMID:32410640 PMID:24295791 PMID:24295791 PMID:25111595 More...
RGD:41412161 , RGD:41410785 , RGD:41410784 , RGD:41410784 , RGD:41410780
NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801
G
Shc1
SHC adaptor protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32659284
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
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Slc13a4
solute carrier family 13 member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 4:63,943,369...63,988,852
Ensembl chr 4:63,943,395...63,988,857
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Slc17a2
solute carrier family 17, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr17:41,318,312...41,339,012
Ensembl chr17:41,319,701...41,336,325
G
Slc22a8
solute carrier family 22 member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 1:205,496,331...205,516,378
Ensembl chr 1:205,498,084...205,517,450
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Slc30a10
solute carrier family 30, member 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22926781
NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
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Slc6a4
solute carrier family 6 member 4
susceptibility
ISO
associated with alcohol use disorder;DNA:deletion:promoter:-1212_-1255 (human)
RGD
PMID:11236836
RGD:36947396
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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Smad3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21605584
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Smad7
SMAD family member 7
ISO
associated with hepatocellular carcinoma; mRNA:increased expression:liver (human)
RGD
PMID:25602745
RGD:14401589
NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765
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Smo
smoothened, frizzled class receptor
treatment
IMP
RGD
PMID:22994359
RGD:150521663
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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Socs1
suppressor of cytokine signaling 1
exacerbates
ISO
associated with Chemical and Drug Induced Liver Injury;
RGD
PMID:30097285
RGD:150573810
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Sod2
superoxide dismutase 2
disease_progression
ISO
DNA:SNP:cds:p.Ala16Val(rs1799725)(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:32659284 PMID:19731237
RGD:26923907
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Spag9
sperm associated antigen 9
ISO
associated with Human Viral Hepatitis
RGD
PMID:29344208
RGD:30296654
NCBI chr10:78,943,439...79,077,797
Ensembl chr10:78,943,479...79,077,797
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Sparc
secreted protein acidic and cysteine rich
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23408952
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Spint1
serine peptidase inhibitor, Kunitz type 1
IEP
mRNA:increased expression:spleen:
RGD
PMID:15086199
RGD:10043112
NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
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Spp1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16221502
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17133483
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:22687286
RGD:6892914
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
G
Tagln2
transgelin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr13:84,966,980...84,973,973
Ensembl chr13:84,967,009...84,973,972
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Tfpi
tissue factor pathway inhibitor
ISO
RGD
PMID:23841464
RGD:11060135
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21037076 PMID:35101388 PMID:36368619 PMID:30686515
RGD:14985228
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tgfb2
transforming growth factor, beta 2
ISO
RGD
PMID:30686515
RGD:14985228
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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Tgfbr1
transforming growth factor, beta receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28560358
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Tgm2
transglutaminase 2
severity treatment
ISO
associated with Schistosomiasis Japonica
RGD
PMID:31200771 PMID:31200771
RGD:39938956 , RGD:39938956
NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981
G
Thbs1
thrombospondin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18407596
NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
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Thpo
thrombopoietin
ISO
mRNA:decreased expression:liver
RGD
PMID:9794189
RGD:1580082
Ensembl chr11:80,182,820...80,188,167
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:24815695
RGD:15090811
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr3
toll-like receptor 3
susceptibility
ISO
DNA:snp: :rs3775290(human)
RGD
PMID:26024592
RGD:21079416
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tlr4
toll-like receptor 4
treatment
IEP IMP ISO
protein:increased expression:intestine: associated with chronic intermittent hypoxia
RGD
PMID:27061671 PMID:32626927 PMID:20006396 PMID:26809353
RGD:14697732 , RGD:401959337 , RGD:18182934 , RGD:14700654
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tmem67
transmembrane protein 67
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19508969
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Tnf
tumor necrosis factor
severity
ISO IEP
protein:increased expression:serum (human) associated with chronic intermittent hypoxia; mRNA, protein:increased expression:liver (rat)
RGD
PMID:19695831 PMID:32626927
RGD:14995448 , RGD:401959337
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20353583
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
G
Trpm7
transient receptor potential cation channel, subfamily M, member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25150141
NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
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Tug1
taurine up-regulated 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:37582412
NCBI chr14:78,519,894...78,526,927
Ensembl chr14:78,522,506...78,526,927
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Unc93b1
unc-93 homolog B1, TLR signaling regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 1:201,167,388...201,178,343
Ensembl chr 1:201,152,693...201,178,338
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Ust5r
integral membrane transport protein UST5r
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 1:205,210,558...205,286,868
Ensembl chr 1:205,211,034...205,286,718
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Vash1
vasohibin 1
treatment
ISO
associated with Hepatitis C, Chronic; protein:increased expression:liver
RGD
PMID:24390792 PMID:24390792
RGD:15003198 , RGD:15003198
NCBI chr 6:106,330,374...106,345,740
Ensembl chr 6:106,329,123...106,345,726
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Vcam1
vascular cell adhesion molecule 1
IEP
associated with chronic intermittent hypoxia; mRNA, protein:increased expression:liver (rat)
RGD
PMID:32626927
RGD:401959337
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Vdr
vitamin D receptor
severity
ISO
associated with nonalcoholic fatty liver disease; DNA:SNP: :rs1544410(human)
RGD
PMID:30683615 PMID:30218108 PMID:23622244
RGD:14401752 , RGD:14402031 , RGD:14402027
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:platelet: associated with Hepatitis C, Chronic; protein:increased expression:liver
CTD RGD
PMID:11981751 PMID:18544126 PMID:26627607
RGD:15003200 , RGD:11528851
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vegfc
vascular endothelial growth factor C
ISO
protein:increased expression:liver:
RGD
PMID:18544126
RGD:15003200
NCBI chr16:37,712,251...37,827,845
Ensembl chr16:37,712,262...37,827,848
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Vim
vimentin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513 PMID:26396155 PMID:32659284
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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Vtn
vitronectin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26396155
NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810
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Wdr35
WD repeat domain 35
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:18472094
RGD:11553927
NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
associated with Human Viral Hepatitis;DNA:missense mutation:cds:p.R399Q (rs25487) (human) associated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R194W (human) associated with hepatitis B;DNA:missense mutation, haplotype:cds:p.R399Q (human)
RGD
PMID:24018491 PMID:29935355 PMID:23454624
RGD:14985244 , RGD:15036797 , RGD:15036794
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20570839
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Cav1
caveolin 1
no_association
ISO
DNA:SNP:intron: (rs4730751) (human)
RGD
PMID:23051628
RGD:8661777
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Ccl7
C-C motif chemokine ligand 7
IEP
protein:increased expression:serum
RGD
PMID:19131226
RGD:5135067
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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Col1a1
collagen type I alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20570839
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:skin (human)
RGD
PMID:20708474
RGD:7207047
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:skin (human)
RGD
PMID:20708474
RGD:7207047
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Anxa5
annexin A5
ISO
protein:increased expression:urine
RGD
PMID:17999093
RGD:7242031
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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Avil
advillin
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868 PMID:29058690
NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071
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Axdnd1
axonemal dynein light chain domain containing 1
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:8589695 PMID:9536098 PMID:10742096 PMID:11805166 PMID:12464671 PMID:12707396 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15015071 PMID:15253708 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15817495 PMID:16354237 PMID:16898497 PMID:17371932 PMID:17576681 PMID:17699384 PMID:17899208 PMID:18216321 PMID:18443213 PMID:18709391 PMID:18823551 PMID:19145239 PMID:19406966 PMID:19876656 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:22565185 PMID:22578956 PMID:22763815 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:24033266 PMID:24227627 PMID:24413855 PMID:24509478 PMID:24742477 PMID:24856380 PMID:25349199 PMID:25525159 PMID:25720465 PMID:25741868 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26594346 PMID:26668027 PMID:28476686 PMID:28492532 PMID:28658201 PMID:28780565 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29982877 PMID:30013592 PMID:30260545 PMID:30295827 PMID:30348286 PMID:30406062 PMID:30450462 PMID:30655312 PMID:31027891 PMID:31308032 PMID:32581362 PMID:32604935 PMID:33102883 PMID:33305316 PMID:33532864 PMID:36167728 More...
NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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Col4a3
collagen type IV alpha 3 chain
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868
NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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Col4a4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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Col4a5
collagen type IV alpha 5 chain
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:32581362
NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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Crb2
crumbs cell polarity complex component 2
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25557779 PMID:25741868 PMID:27004616 PMID:27942854 PMID:28492532 PMID:30212996 PMID:32581362 More...
NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
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Nphs2
NPHS2 stomatin family member, podocin
ISO
ClinVar Annotator: match by term: NPHS2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 PMID:11729243 PMID:11733557 PMID:11805166 PMID:11805168 PMID:11854170 PMID:12464671 PMID:12608558 PMID:12644922 PMID:12649741 PMID:12707396 PMID:12776285 PMID:14570703 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15015071 PMID:15042551 PMID:15059485 PMID:15253708 PMID:15264208 PMID:15322893 PMID:15327385 PMID:15496146 PMID:15504144 PMID:15769810 PMID:15780077 PMID:15817495 PMID:15954915 PMID:15968559 PMID:16199547 PMID:16286890 PMID:16291839 PMID:16354237 PMID:16481888 PMID:16721582 PMID:16810518 PMID:16898497 PMID:16900088 PMID:17109732 PMID:17216259 PMID:17218332 PMID:17371932 PMID:17576681 PMID:17699384 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18380020 PMID:18443213 PMID:18499321 PMID:18596732 PMID:18683072 PMID:18709391 PMID:18726620 PMID:18823551 PMID:19067903 PMID:19145239 PMID:19268410 PMID:19371226 PMID:19406966 PMID:19520069 PMID:19674119 PMID:19812541 PMID:19876656 PMID:20001346 PMID:20333530 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21125408 PMID:21171529 PMID:21355056 PMID:21415313 PMID:21636722 PMID:21722858 PMID:22228437 PMID:22565185 PMID:22578956 PMID:22763815 PMID:23013956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:23913389 PMID:24033266 PMID:24072147 PMID:24089165 PMID:24227627 PMID:24413855 PMID:24500309 PMID:24509478 PMID:24511133 PMID:24596097 PMID:24715228 PMID:24742477 PMID:24856380 PMID:24969201 PMID:25060053 PMID:25349199 PMID:25525159 PMID:25573908 PMID:25599733 PMID:25720465 PMID:25741868 PMID:25741914 PMID:25741915 PMID:25741916 PMID:25852895 PMID:25903641 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:26594346 PMID:26668027 PMID:26820844 PMID:27885584 PMID:28117080 PMID:28204945 PMID:28385484 PMID:28476686 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:28780565 PMID:29049388 PMID:29127259 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29869118 PMID:29982877 PMID:30013592 PMID:30241959 PMID:30260545 PMID:30295827 PMID:30348286 PMID:30406062 PMID:30450462 PMID:30609409 PMID:30655312 PMID:30721404 PMID:31027891 PMID:31308032 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:32604935 PMID:33102883 PMID:33193607 PMID:33305316 PMID:33428103 PMID:33532864 PMID:34031707 PMID:34405919 PMID:34853150 PMID:36167728 More...
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
mRNA:alternative form:blood, mononuclear cell
RGD
PMID:20419394
RGD:7174729
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Nup205
nucleoporin 205
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844
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Nup93
nucleoporin 93
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
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Pax2
paired box 2
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:33532864 PMID:35444690 More...
NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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Pla2g7
phospholipase A2 group VII
disease_progression
ISO
RGD
PMID:9853251
RGD:7248793
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Plce1
phospholipase C, epsilon 1
ISO
DNA:mutations: :
RGD
PMID:20591883
RGD:7257521
NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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Smarcal1
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 More...
NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
ISO
DNA:missense mutations, SNPs:exon, intron:multiple
RGD
PMID:21511817
RGD:7247446
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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Tsfm
Ts translation elongation factor, mitochondrial
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868 PMID:29058690
NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10762296 PMID:11182928 PMID:12050205 PMID:12970737 PMID:15150775 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:19484379 PMID:20442690 PMID:21499692 PMID:22099579 PMID:23295293 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25501161 PMID:25741868 PMID:25818337 PMID:26069768 PMID:26467025 PMID:27013732 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29668062 PMID:30406062 PMID:30655312 PMID:32352694 PMID:32581362 More...
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Xpo5
exportin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
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Utp4
UTP4 small subunit processome component
ISO
ClinVar Annotator: match by term: Hereditary North American Indian childhood cirrhosis
ClinVar
PMID:9536098 PMID:12417987 PMID:16225863 PMID:17576681 PMID:19732766 PMID:20385600 PMID:22916032 PMID:24123366 PMID:25741868 PMID:27535533 PMID:28492532 More...
NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550
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Ackr3
atypical chemokine receptor 3
ISO
ClinVar Annotator: match by term: Oculomotor-abducens synkinesis
OMIM ClinVar
PMID:31211835
NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
IEP
protein:increased expression:peritoneum
RGD
PMID:27690696
RGD:126781724
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
IEP
mRNA:increased expression:peritoneum
RGD
PMID:22569713
RGD:13825244
NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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Serpine1
serpin family E member 1
treatment
IDA IEP
protein:increased expression:peritoneal fluid (rat)
RGD
PMID:26790972 PMID:26419644
RGD:11073682 , RGD:11073723
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Ace
angiotensin I converting enzyme
treatment
IMP ISO
RGD
PMID:15770604 PMID:19270231
RGD:12879430 , RGD:12879821
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ager
advanced glycosylation end product-specific receptor
treatment
IDA
associated with Diabetic Nephropathies
RGD
PMID:19759273
RGD:7244162
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Ccl2
C-C motif chemokine ligand 2
treatment
ISO
RGD
PMID:23032084
RGD:14995948
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Dnmt1
DNA methyltransferase 1
IEP
protein:increased expression:peritoneum:
RGD
PMID:25256793
RGD:9588609
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Ern1
endoplasmic reticulum to nucleus signaling 1
treatment
IMP
RGD
PMID:31836774
RGD:32733624
NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029
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F10
coagulation factor X
IEP
RGD
PMID:19458308
RGD:7394780
NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141
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F3
coagulation factor III, tissue factor
IEP
RGD
PMID:19458308
RGD:7394780
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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F5
coagulation factor V
IEP
RGD
PMID:19458308
RGD:7394780
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Fgf10
fibroblast growth factor 10
treatment
ISO
miR-145 inhibitor mRNA:decreased expression:peritoneum (mouse)
RGD
PMID:31431501 PMID:31431501
RGD:126928131 , RGD:126928131
NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
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Mir21
microRNA 21
IEP
RNA:increased expression:peritoneal fluid,tissue
RGD
PMID:30515805
RGD:40925948
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
RGD
PMID:22101032
RGD:6771356
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Serpinc1
serpin family C member 1
treatment
ISO
associated with Peritonitis
RGD
PMID:18458955
RGD:11035266
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Serpine1
serpin family E member 1
ISO
protein:increased expression:peritoneal fluid:
RGD
PMID:25530106
RGD:13208550
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Serpinh1
serpin family H member 1
disease_progression treatment
IEP ISO IMP
protein:increased expression:peritoneum (rat)
RGD
PMID:12691502 PMID:32585450 PMID:15458466 PMID:12911538
RGD:41410779 , RGD:41410783 , RGD:41410782 , RGD:41410781
NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801
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Spry1
sprouty RTK signaling antagonist 1
IEP
mRNA, protein:decreased expression:peritoneal fluid,tissue
RGD
PMID:30515805
RGD:40925948
NCBI chr 2:120,557,256...120,561,917
Ensembl chr 2:120,556,706...120,566,189
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Tgfb1
transforming growth factor, beta 1
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17199790 PMID:28190234
RGD:14985233
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnfaip6
TNF alpha induced protein 6
treatment
IMP
RGD
PMID:22912904
RGD:7777188
NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
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Xbp1
X-box binding protein 1
treatment
IEP
RGD
PMID:31836774
RGD:32733624
NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
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Abca1
ATP binding cassette subfamily A member 1
ISO
mRNA:increased expression:liver (human)
RGD
PMID:28660384
RGD:21203516
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Abcb4
ATP binding cassette subfamily B member 4
treatment disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)
CTD RGD
PMID:20040336 PMID:30682444 PMID:21209952 PMID:18671305
RGD:153297773 , RGD:14694982
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Abcc2
ATP binding cassette subfamily C member 2
ISO IEP
CTD Direct Evidence: marker/mechanism protein:decreased expression:liver
CTD RGD
PMID:15542527 PMID:15770136
RGD:14700810
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcg2
ATP binding cassette subfamily G member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15542527
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Ace
angiotensin I converting enzyme
IEP
mRNA:increased expression:liver
RGD
PMID:19389807
RGD:2325226
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ace2
angiotensin converting enzyme 2
IEP
mRNA, protein:increased expression:liver
RGD
PMID:17532087
RGD:9685452
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Agt
angiotensinogen
IEP
protein:increased expression:plasma
RGD
PMID:17532087
RGD:9685452
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Aqp4
aquaporin 4
IEP
RGD
PMID:20451280
RGD:5148030
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Ccl5
C-C motif chemokine ligand 5
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver:
CTD RGD
PMID:12126966 PMID:15770052
RGD:14995336
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccn2
cellular communication network factor 2
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:19371232
RGD:2314517
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Cd3d
CD3 delta subunit of T-cell receptor complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
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Cd80
Cd80 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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Cdh5
cadherin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
protein:increased expression:epithelial cell:
RGD
PMID:18456456
RGD:8662434
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cenpb
centromere protein B
ISO
RGD
PMID:8911074
RGD:27226708
NCBI chr 3:118,396,987...118,399,780
Ensembl chr 3:118,388,546...118,400,470
G
Clec16a
C-type lectin domain containing 16A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578
G
Col1a1
collagen type I alpha 1 chain
treatment
IEP
RGD
PMID:20056896
RGD:8552731
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
G
Cpeb1
cytoplasmic polyadenylation element binding protein 1
IEP
protein:increased expression:liver
RGD
PMID:26627607
RGD:11528851
NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
G
Cpeb4
cytoplasmic polyadenylation element binding protein 4
ISO
protein:increased expression:liver
RGD
PMID:26627607
RGD:11528851
NCBI chr10:15,717,794...15,780,482
Ensembl chr10:15,717,794...15,780,603
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility disease_progression no_association
ISO
autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002) (human) DNA:SNP:CDS:60G>A(rs3087243)(human) DNA:SNPs: :rs231775, rs3087243, rs231725 (human) DNA:SNP:CDS:49A>G(human)
RGD
PMID:10782900 PMID:16584111 PMID:21594562 PMID:17482523
RGD:2301998 , RGD:14398744 , RGD:14398743 , RGD:14398725
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
G
Cxcr5
C-X-C motif chemokine receptor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
G
Cygb
cytoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442
G
Dag1
dystroglycan 1
IEP
mRNA:increased expression:liver
RGD
PMID:12177244
RGD:2314895
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
G
Dennd1b
DENN domain containing 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr13:50,545,324...50,772,922
Ensembl chr13:50,545,836...50,770,601
G
Dnase1
deoxyribonuclease 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:28263100
RGD:38500241
NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
G
Entpd2
ectonucleoside triphosphate diphosphohydrolase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15651265 PMID:15651265
RGD:9685530
NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
G
Fas
Fas cell surface death receptor
ISO
protein:increased expression:lymphocyte:
RGD
PMID:26429926
RGD:14700711
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Foxp3
forkhead box P3
ISO
mRNA:increased expression:liver
RGD
PMID:17158635
RGD:38501106
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Gch1
GTP cyclohydrolase 1
treatment
IEP
RGD
PMID:20132096
RGD:329970291
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
G
Hamp
hepcidin antimicrobial peptide
treatment
ISO IEP
mRNA:decreased expression:liver
RGD
PMID:19652645 PMID:23704825
RGD:11041639 , RGD:11041732
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
G
Hhip
Hedgehog-interacting protein
IEP
mRNA:decreased expression:
RGD
PMID:18375471
RGD:11552599
NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528
G
Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22271822
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
G
Hmox1
heme oxygenase 1
IEP
mRNA, protein:increased expression:liver, lung
RGD
PMID:12114196
RGD:625603
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Icam1
intercellular adhesion molecule 1
treatment
ISO
associated with Graft vs Host Disease;
RGD
PMID:10051478
RGD:11520783
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Ifng
interferon gamma
ISO
mRNA:increased expression:liver
RGD
PMID:17158635
RGD:38501106
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Igfbp1
insulin-like growth factor binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr14:82,047,415...82,052,482
Ensembl chr14:82,047,415...82,052,482
G
Il10
interleukin 10
ISO
mRNA:increased expression:liver
RGD
PMID:17158635
RGD:38501106
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il12a
interleukin 12A
susceptibility treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs, haplotype: :rs6441286, rs574808(human) DNA:SNP: :rs62270414(human) DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human)
CTD RGD
PMID:20639880 PMID:19458352 PMID:23433321 PMID:27175695
RGD:25440500 , RGD:25440498 , RGD:25440489
NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
G
Il12b
interleukin 12B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20639880
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
G
Il12rb1
interleukin 12 receptor subunit beta 1
susceptibility
IEP
RNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:23910013
RGD:14700865
NCBI chr16:18,620,228...18,633,207
Ensembl chr16:18,620,770...18,632,769
G
Il4
interleukin 4
treatment
IEP
RGD
PMID:20442198
RGD:7829828
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Il7r
interleukin 7 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
G
Jak2
Janus kinase 2
treatment
IMP
RGD
PMID:24619965
RGD:10403061
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
G
Keap1
Kelch-like ECH-associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
G
Krt18
keratin 18
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:26110613
RGD:18337483
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
G
Krt7
keratin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21681009
NCBI chr 7:132,528,881...132,545,052
Ensembl chr 7:132,528,895...132,545,052
G
Lbr
lamin B receptor
ISO
RGD
PMID:8550049
RGD:9588625
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
G
Lep
leptin
ISO
protein:decreased expression:serum:
RGD
PMID:16093869
RGD:10411894
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Lepr
leptin receptor
ISO
protein:increased expression:serum:
RGD
PMID:16093869
RGD:10411894
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
G
Loxl2
lysyl oxidase-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067
G
Map3k14
mitogen-activated protein kinase kinase kinase 14
ISS
OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221
MouseDO
NCBI chr10:88,165,349...88,215,558
Ensembl chr10:88,165,351...88,215,523
G
Mapk14
mitogen activated protein kinase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
G
Mas1
MAS1 proto-oncogene, G protein-coupled receptor
IEP
RGD
PMID:17532087
RGD:9685452
NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
G
Met
MET proto-oncogene, receptor tyrosine kinase
severity
ISO
RGD
PMID:19208365
RGD:14694826
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
G
Mir21
microRNA 21
severity
ISO
RGD
PMID:28886078
RGD:21408577
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
G
Mir223
microRNA 223
severity
ISO
RGD
PMID:28886078
RGD:21408577
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
G
Mmel1
membrane metallo-endopeptidase-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20639879
NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
G
Mmp13
matrix metallopeptidase 13
treatment
IEP
RGD
PMID:20056896
RGD:8552731
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
G
Mmp2
matrix metallopeptidase 2
treatment
IEP
RGD
PMID:20056896
RGD:8552731
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp3
matrix metallopeptidase 3
treatment
IEP
RGD
PMID:20056896
RGD:8552731
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
G
Mmp9
matrix metallopeptidase 9
treatment
IEP
RGD
PMID:20056896
RGD:8552731
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:18507686
RGD:2324885
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
G
Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
G
Nfkb1
nuclear factor kappa B subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
G
Nos2
nitric oxide synthase 2
IEP ISO
protein:increased expression, increased activity:brain (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30026087 PMID:21903766
RGD:5509055
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Nos3
nitric oxide synthase 3
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30026087 PMID:20132096
RGD:329970291
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Nr1h4
nuclear receptor subfamily 1, group H, member 4
susceptibility
ISO
mRNA,protein:decreased expression:liver (human)
RGD
PMID:29968724
RGD:14928336
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
G
Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
mRNA:altered expression:leukocyte, mononuclear
RGD
PMID:15635817
RGD:4892607
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
G
Nsa2
NSA2 ribosome biogenesis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr 2:28,443,142...28,449,393
Ensembl chr 2:28,441,269...28,449,388
G
Nup62
nucleoporin 62
severity
ISO
RGD
PMID:12753810
RGD:9831196
NCBI chr 1:95,298,995...95,314,902
Ensembl chr 1:95,295,526...95,315,174
G
Pde5a
phosphodiesterase 5A
IMP
RGD
PMID:17610866
RGD:2314466
NCBI chr 2:210,858,515...211,003,480
Ensembl chr 2:210,858,063...210,999,701
G
Ppargc1a
PPARG coactivator 1 alpha
IEP
mRNA, protein:decreased expression:liver
RGD
PMID:
RGD:6484526
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
G
Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
G
Ren
renin
IEP
protein:increased activity:plasma (rat)
RGD
PMID:22266601
RGD:6892690
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Rps6kb1
ribosomal protein S6 kinase B1
IEP
protein:increased expression, increased phosphorylation:liver
RGD
PMID:15769867
RGD:1642977
NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:15713222
RGD:14401562
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
Slc4a2
solute carrier family 4 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18188457
NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965
G
Slc51a
solute carrier family 51 member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16423920
NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485
G
Slc51b
SLC51 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16423920
NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145
G
Slco1a1
solute carrier organic anion transporter family, member 1a1
IEP
protein:decreased expression:liver
RGD
PMID:15770136
RGD:14700810
NCBI chr 4:174,877,045...174,950,900
Ensembl chr 4:174,876,593...174,950,873
G
Slco1c1
solute carrier organic anion transporter family, member 1c1
IEP
protein:decreased expression:liver
RGD
PMID:15770136
RGD:14700810
NCBI chr 4:174,466,621...174,513,290
Ensembl chr 4:174,466,631...174,513,289
G
Sod2
superoxide dismutase 2
ISO
protein:increased expression:serum
RGD
PMID:1682406
RGD:2317411
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Spib
Spi-B transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20639880
NCBI chr 1:95,018,939...95,024,804
Ensembl chr 1:95,018,947...95,024,780
G
Spint1
serine peptidase inhibitor, Kunitz type 1
ISO
mRNA:increased expression:liver:
RGD
PMID:21898507
RGD:10043111
NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
G
Spint2
serine peptidase inhibitor, Kunitz type, 2
ISO
mRNA:increased expression:liver:
RGD
PMID:21898507
RGD:10043111
NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616
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Stat4
signal transducer and activator of transcription 4
susceptibility no_association
ISO
DNA:SNPs, haplotypes:multiple CTD Direct Evidence: marker/mechanism associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human) DNA:SNP: intron: (rs7574865) (human) DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)
CTD RGD
PMID:21399635 PMID:24648611 PMID:26084578 PMID:28395724 PMID:24648611
RGD:25671415 , RGD:25671421 , RGD:25671416 , RGD:25671415
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Tjp2
tight junction protein 2
ISO
ClinVar Annotator: match by term: Primary biliary cholangitis
ClinVar
PMID:25741868 PMID:28492532 PMID:32439973
NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295
G
Tlr9
toll-like receptor 9
ISO
protein:increased expression:liver, peripheral blood mononuclear cell (human)
RGD
PMID:23026026
RGD:18337477
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:serum (human) mRNA:increased expression:liver
RGD
PMID:9047083 PMID:17158635
RGD:14995307 , RGD:38501106
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
G
Tyk2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22961000
NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
G
Ubd
ubiquitin D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639 Ensembl chr20:1,385,864...1,408,639
G
Utp4
UTP4 small subunit processome component
ISO
North American Indian childhood cirrhosis, OMIM:604901, R565W
RGD
PMID:12417987
RGD:1600653
NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550
G
Vdr
vitamin D receptor
susceptibility
ISO
DNA:polymorphism: : DNA:SNP: :
GAD RGD
PMID:15118671 PMID:15683428 PMID:19376604
RGD:1331525 , RGD:14402024 , RGD:14401750
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
G
Vegfa
vascular endothelial growth factor A
IEP ISO
protein:increased expression:liver protein:increased expression:plasma:
RGD
PMID:26627607 PMID:26615570
RGD:11528851 , RGD:11538286
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Zc3h12a
zinc finger CCCH type containing 12A
ISS
OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221
MouseDO
NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
G
Il12rb2
interleukin 12 receptor subunit beta 2
ISO
ClinVar Annotator: match by term: IL12RB2-related condition
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:96,426,396...96,515,251
Ensembl chr 4:96,426,842...96,515,289
G
Abca3
ATP binding cassette subfamily A member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26780485
NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
G
Ace
angiotensin I converting enzyme
IMP ISO IEP
associated with Hypertension CTD Direct Evidence: therapeutic associated with Radiation Pneumonitis associated with Lung Injury associated with Lung Injury;protein:decreased expression:lung
CTD RGD
PMID:33007385 PMID:17506718 PMID:17506716 PMID:20651228 PMID:20581171
RGD:4140923 , RGD:4140925 , RGD:4140478 , RGD:4140483
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Ace2
angiotensin converting enzyme 2
ISO
associated with Lung Injury;protein:decreased expression:lung CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:27550926 PMID:33007385 PMID:20581171
RGD:4140483
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
G
Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30639579
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25945502
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
G
Ager
advanced glycosylation end product-specific receptor
ISO IEP
mRNA:decreased expression:lung (human) mRNA, protein:decreased expression:lung
RGD
PMID:22669512 PMID:24226635
RGD:7245533 , RGD:8695997
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
G
Agt
angiotensinogen
treatment
IMP ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:28960804 PMID:31181250 PMID:24168260
RGD:11039408
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
G
Agtr1a
angiotensin II receptor, type 1a
ISO
RGD
PMID:18500976
RGD:5147454
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
G
Agtr2
angiotensin II receptor, type 2
ISO
RGD
PMID:18500976
RGD:5147454
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
G
Alox5
arachidonate 5-lipoxygenase
ISO
protein:altered localization:alveolar macrophage, nuclear membrane
RGD
PMID:8621765
RGD:4890430
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
G
Anxa1
annexin A1
IEP
protein:decreased expression:lung
RGD
PMID:9269316
RGD:2306948
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
G
Ap3b1
adaptor related protein complex 3 subunit beta 1
ISO
RGD
PMID:12125811
RGD:1578409
NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
G
Apoa1
apolipoprotein A1
ISO
protein:decreased expression: respiratory system fluid/secretion
RGD
PMID:20463180
RGD:5508222
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
G
Areg
amphiregulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26817844
NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
G
B3gat1
beta-1,3-glucuronyltransferase 1
IEP
protein:increased expression:lung
RGD
PMID:24127863
RGD:14390076
NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395
G
Bad
BCL2-associated agonist of cell death
IEP
RGD
PMID:18198484
RGD:2292680
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
G
Bdkrb1
bradykinin receptor B1
ISO
RGD
PMID:20451601
RGD:5129229
NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
G
Bdnf
brain-derived neurotrophic factor
ISO
protein:increased expression:sputum
RGD
PMID:12917229
RGD:4891121
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
G
Bmp7
bone morphogenetic protein 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17975199
NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
G
Brd4
bromodomain containing 4
treatment
ISO
RGD
PMID:23759512
RGD:9586353
NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
G
Calca
calcitonin-related polypeptide alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17365031
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
G
Calr
calreticulin
ISO
protein:increased expression:lung
RGD
PMID:18563736
RGD:2326172
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Cat
catalase
ISO
mRNA, protein:decreased expression:lung CTD Direct Evidence: therapeutic
CTD RGD
PMID:19684199 PMID:21190578
RGD:5130199
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
Cav1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:36053221 PMID:18759267
RGD:8661773
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
G
Ccl11
C-C motif chemokine ligand 11
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16314464 PMID:17620002 PMID:17620002 PMID:16314464
RGD:4145458 , RGD:4145395
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
G
Ccl17
C-C motif chemokine ligand 17
IEP ISO
mRNA:increased expression:lung protein:increased expression:respiratory system fluid/secretion
RGD
PMID:15993846 PMID:19715610
RGD:2306304 , RGD:4145488
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
G
Ccl19
C-C motif chemokine ligand 19
ISO
mRNA:increased expression:lung
RGD
PMID:17717200
RGD:5130910
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
G
Ccl2
C-C motif chemokine ligand 2
ISO IEP
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:lung, eosinophil (rat)
CTD RGD
PMID:16324872 PMID:17720292 PMID:26163174 PMID:20833968 PMID:7525714
RGD:4145112 , RGD:8549730
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl21
C-C motif chemokine ligand 21
ISO
mRNA:increased expression:lung
RGD
PMID:17717200
RGD:5130910
NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
G
Ccl22
C-C motif chemokine ligand 22
IEP ISO
mRNA:increased expression:lung protein:increased expression:respiratory system fluid/secretion
RGD
PMID:15993846 PMID:19715610
RGD:2306304 , RGD:4145488
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
G
Ccl3
C-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16324872 PMID:17720292
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
G
Ccl4
C-C motif chemokine ligand 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17720292
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
G
Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased expression:lung (mouse) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17620002 PMID:20833968
RGD:4145112
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ccn2
cellular communication network factor 2
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15298857 PMID:15677772 PMID:25815693 PMID:26817844 PMID:19154443
RGD:2314537
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
G
Ccr2
C-C motif chemokine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14609568 PMID:15743780
RGD:4145065
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
G
Ccr3
C-C motif chemokine receptor 3
ISO
associated with Lung Injury CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16314464 PMID:16314464
RGD:4145395
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
G
Ccr4
C-C motif chemokine receptor 4
IEP
mRNA:increased expression:lung
RGD
PMID:15993846
RGD:2306304
NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
G
Ccr5
C-C motif chemokine receptor 5
ISO
protein:decreased expression:lung, lymphocyte (human) mRNA:increased expression:lung (mouse)
RGD
PMID:15802346 PMID:19762220
RGD:4892101 , RGD:4145622
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Ccr8
C-C motif chemokine receptor 8
IEP
mRNA:increased expression:lung
RGD
PMID:15993846
RGD:2306304
NCBI chr 8:119,826,332...119,828,292
Ensembl chr 8:119,826,568...119,827,629
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Cd28
Cd28 molecule
ISO
RGD
PMID:20395561
RGD:4892281
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
G
Cd36
CD36 molecule
severity
IMP ISO
associated with Silicosis
RGD
PMID:19439069 PMID:20056742
RGD:2307220 , RGD:6893557
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
G
Cd86
CD86 molecule
ISO
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:20395561
RGD:4892281
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
G
Cdh1
cadherin 1
IEP ISO
RGD
PMID:20495078 PMID:16924102
RGD:5132892 , RGD:5132890
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
G
Cebpa
CCAAT/enhancer binding protein alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29078374
NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
G
Cebpb
CCAAT/enhancer binding protein beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17177178
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
G
Cfd
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22832039
NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
G
Cflar
CASP8 and FADD-like apoptosis regulator
ISO
mRNA,protein:increased expression:lung myofibroblast:
RGD
PMID:22582174
RGD:11341695
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
G
Chi3l1
chitinase 3 like 1
severity
ISO
protein:increased secretion:serum, lung (human)
RGD
PMID:20888745
RGD:4892653
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
G
Chrm3
cholinergic receptor, muscarinic 3
ISO
RGD
PMID:18480105
RGD:5133440
NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
G
Cma1
chymase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15297733
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
G
Col1a1
collagen type I alpha 1 chain
treatment
IEP ISO
associated with Middle East respiratory syndrome;
RGD
PMID:7511187 PMID:31838832 PMID:17579094
RGD:7257543 , RGD:30309204 , RGD:11041177
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
G
Col1a2
collagen type I alpha 2 chain
IEP
RGD
PMID:7511187
RGD:7257543
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
G
Col3a1
collagen type III alpha 1 chain
disease_progression
ISO
CTD Direct Evidence: marker/mechanism associated with Middle East respiratory syndrome;
CTD RGD
PMID:26817844 PMID:31838832
RGD:30309204
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
G
Csf2
colony stimulating factor 2
IEP ISO
mRNA:increased expression:lung: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17894541 PMID:9881949
RGD:10449530
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17894541
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
G
Cxcl2
C-X-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16324872
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
G
Cxcr2
C-X-C motif chemokine receptor 2
ISO
RGD
PMID:18836137
RGD:5134989
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
G
Cxcr3
C-X-C motif chemokine receptor 3
ISO
associated with Lung Injury
RGD
PMID:15254596
RGD:5135446
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
G
Cysltr1
cysteinyl leukotriene receptor 1
ISO IEP
associated with Pneumonia mRNA:increased expression:lung
RGD
PMID:14970333 PMID:20959046
RGD:4847792 , RGD:4781441
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
G
Cysltr2
cysteinyl leukotriene receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15328359 PMID:20497024 PMID:15328359
RGD:4781445 , RGD:5143997
NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
G
Defb1
defensin beta 1
ISO
protein:increased expression:serum
RGD
PMID:17000097
RGD:4892262
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
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Defb4
defensin beta 4
ISO
protein:increased expression:serum
RGD
PMID:17000097
RGD:4892262
NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665
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Defb5
defensin beta 5
ISO
protein:increased expression:serum
RGD
PMID:17000097
RGD:4892262
NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467
G
Dkc1
dyskerin pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
G
Dnm1l
dynamin 1-like
IEP ISO
mRNA,protein:increased expression:lung,mitochondrion
RGD
PMID:25284615 PMID:25284615
RGD:35673291 , RGD:35673291
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
G
Dsp
desmoplakin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28166215
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
G
Edn1
endothelin 1
IEP ISO
protein:increased expression:lung, airway epithelium, leukocyte (rat) CTD Direct Evidence: marker/mechanism Cryptogenic Fibrosing Alveolitis; mRNA, protein:increased expression:lung, pneumocyte, airway epithelium (human) associated with Scleroderma, Systemic; protein:increased expression:lung (human)
CTD RGD
PMID:17235729 PMID:9279246 PMID:8099638 PMID:9284832
RGD:4144892 , RGD:4144889 , RGD:4144866
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
G
Egf
epidermal growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17266442
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
G
Egfr
epidermal growth factor receptor
IEP ISO
mRNA:increased expression:lung (rat)
RGD
PMID:7524566 PMID:21177177 PMID:8879184
RGD:5131873 , RGD:5131634 , RGD:5131638
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
G
Egr1
early growth response 1
disease_progression
ISO
mRNA:increased expression:lung (human) mRNA:increased expression:lung (mouse)
RGD
PMID:19347046 PMID:19679873 PMID:20539010
RGD:4144870 , RGD:5131644 , RGD:5131877
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Elane
elastase, neutrophil expressed
IMP
RGD
PMID:19995276
RGD:10450562
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
G
Eln
elastin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10761639 PMID:26817844
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
G
F2
coagulation factor II, thrombin
ISO
RGD
PMID:21312187
RGD:5147767
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
F5
coagulation factor V
severity
ISO
RGD
PMID:11307811
RGD:11564339
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
G
Fam13a
family with sequence similarity 13, member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28166215
NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860
G
Fgf1
fibroblast growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16324872
NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357
G
Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8952537
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
G
Fgf7
fibroblast growth factor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15677771
NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
G
Fn1
fibronectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26817844
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
G
Fyn
FYN proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30658076
NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911
G
Gch1
GTP cyclohydrolase 1
treatment
IEP
RGD
PMID:23739137
RGD:401700390
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
G
Grem1
gremlin 1, DAN family BMP antagonist
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17975199
NCBI chr 3:100,512,317...100,524,001
Ensembl chr 3:100,512,313...100,524,082
G
Gstp1
glutathione S-transferase pi 1
ISO
associated with Scleroderma, Systemic
RGD
PMID:17044913
RGD:4142516
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
G
Habp2
hyaluronan binding protein 2
IEP
RGD
PMID:20818495
RGD:11353855
NCBI chr 1:255,315,870...255,350,161
Ensembl chr 1:255,315,915...255,350,160
G
Hgf
hepatocyte growth factor
ISO
associated with myositis;protein:increased expression:serum: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16324872 PMID:8952317
RGD:8548628
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
G
Hmgb1
high mobility group box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27616297
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
G
Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15814490
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Hsp90ab1
heat shock protein 90 alpha family class B member 1
IEP
protein:decreased expression:lung (rat)
RGD
PMID:24670792
RGD:10445835
NCBI chr 9:15,432,986...15,438,358
Ensembl chr 9:15,433,691...15,438,488
G
Hspa1a
heat shock protein family A (Hsp70) member 1A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:37307957
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
G
Hspa1b
heat shock protein family A (Hsp70) member 1B
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:37307957
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
G
Hspa5
heat shock protein family A (Hsp70) member 5
ISO
mRNA,protein:increased expression:lungs
RGD
PMID:22227563
RGD:5685632
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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Hspd1
heat shock protein family D (Hsp60) member 1
IEP
RGD
PMID:11746186
RGD:12910545
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Icam1
intercellular adhesion molecule 1
IEP
protein:increased expression:lung (rat)
RGD
PMID:19254480
RGD:4145516
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Igf1
insulin-like growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15286697
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igfbp3
insulin-like growth factor binding protein 3
ISO
RGD
PMID:15681824
RGD:1626120
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Igfbp5
insulin-like growth factor binding protein 5
ISO
RGD
PMID:15681824
RGD:1626120
NCBI chr 9:74,452,371...74,464,953
Ensembl chr 9:74,448,382...74,465,156
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Il12b
interleukin 12B
ISO
protein:increased expression:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12193738 PMID:18598692 PMID:20176803
RGD:4889581 , RGD:4888529
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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Il13
interleukin 13
treatment
ISO IEP
idiopathic pulmonary fibrosis CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15322207 PMID:19654941 PMID:20176803 PMID:19154443
RGD:4145627 , RGD:4888529 , RGD:2314537
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il15
interleukin 15
ISO
RGD
PMID:21309737
RGD:5147438
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Il17a
interleukin 17A
ISO IEP
protein:increased expression:lung, bronchioalveolar lavage fluid (rat)
RGD
PMID:20176803 PMID:24721403 PMID:18338242
RGD:4888529 , RGD:9179762 , RGD:4889110
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18
interleukin 18
ISO
protein:increased expression:lung idiopathic pulmonary fibrosis; protein:increased expression:lung, serum
RGD
PMID:18598692 PMID:15308504
RGD:4889581 , RGD:4889841
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il18r1
interleukin 18 receptor 1
ISO
protein:increased expression:lung
RGD
PMID:15308504
RGD:4889841
NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715
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Il1a
interleukin 1 alpha
ISO IEP
idiopathic pulmonary fibrosis;DNA:polymorphism:promoter: mRNA, protein:increased expression:alveolar macrophage
RGD
PMID:17309781 PMID:9100454
RGD:4142803 , RGD:4142838
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
IEP ISO IDA
protein:increased expression:serum CTD Direct Evidence: marker/mechanism protein:increased expression:lung
CTD RGD
PMID:17266442 PMID:23640035 PMID:19945540 PMID:23132788 PMID:20522787
RGD:4142813 , RGD:7193137 , RGD:4142535
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
disease_progression susceptibility
ISO
DNA:polymorphism (human) CTD Direct Evidence: therapeutic protein:increased expression:lung
CTD RGD
PMID:18403674 PMID:17056243 PMID:7767546 PMID:10934117
RGD:4142874 , RGD:4143194 , RGD:4143177
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il4
interleukin 4
treatment
ISO IEP
associated with Silicosis;protein:increased expression:respiratory system fluid/secretion CTD Direct Evidence: marker/mechanism associated with Alveolitis, Extrinsic Allergic;mRNA:increased expression:lung
CTD RGD
PMID:12574379 PMID:15322207 PMID:20490462 PMID:24269241 PMID:20861649
RGD:5128555 , RGD:10402793 , RGD:5128548
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il5
interleukin 5
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung
CTD RGD
PMID:17620002 PMID:14975941 PMID:17986108
RGD:4890954 , RGD:4890942
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17266442 PMID:25216247 PMID:20846163
RGD:4143241
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il9
interleukin 9
ISO
associated with Silicosis
RGD
PMID:11306428
RGD:5128702
NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
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Jag1
jagged canonical Notch ligand 1
IEP
protein:increased expression:lung
RGD
PMID:27982686
RGD:155663660
NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Kif15
kinesin family member 15
ISO
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
PMID:35417304
NCBI chr 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750
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Lamb1
laminin subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28444932
NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
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Lepr
leptin receptor
ISO
associated with Diabetes Mellitus, Type 2
RGD
PMID:21317313
RGD:5128773
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Lias
lipoic acid synthetase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:32017981
NCBI chr14:42,876,699...42,893,824
Ensembl chr14:42,876,699...42,893,783
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Mbl2
mannose binding lectin 2
ISO
associated with Common Variable Immunodeficiency; DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:18637104
RGD:4889479
NCBI chr 1:228,016,439...228,024,736
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Mecp2
methyl CpG binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21435439
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Mfn2
mitofusin 2
treatment
IEP
RGD
PMID:24912636
RGD:13204824
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Mir101a
microRNA 101a
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28726637
NCBI chr 5:115,966,332...115,966,406
Ensembl chr 5:115,966,328...115,966,410
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Mir10a
microRNA 10a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
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Mir122
microRNA 122
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr18:58,758,703...58,758,787
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Mir125a
microRNA 125a
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30658076
NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
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Mir140
microRNA 140
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:25926378 PMID:32462952
NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
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Mir145
microRNA 145
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Mir193a
microRNA 193a
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30744607
NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
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Mir200c
microRNA 200c
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:25926378 PMID:29113749
NCBI chr 4:157,523,679...157,523,747
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Mir21
microRNA 21
treatment
IEP
RGD
PMID:29084974
RGD:41404715
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir223
microRNA 223
disease_progression
IEP
RGD
PMID:32329871
RGD:25824948
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Mir26b
microRNA 26b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
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Mir30a
microRNA 30a
ISO IEP
CTD Direct Evidence: marker/mechanism RNA:decreased expression:lung
CTD RGD
PMID:25926378 PMID:25284615
RGD:35673291
NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
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Mir326
microRNA 326
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123
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Mir345
microRNA 345
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr 6:127,754,027...127,754,122
Ensembl chr 6:127,754,027...127,754,122
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Mir425
microRNA 425
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr 8:109,264,555...109,264,637
Ensembl chr 8:109,264,555...109,264,637
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Mir451a
microRNA 451a
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34460027
NCBI chr10:62,961,520...62,961,591
Ensembl chr10:62,961,520...62,961,591
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Mir490
microRNA 490
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33482250
NCBI chr 4:65,047,548...65,047,631
Ensembl chr 4:65,047,548...65,047,631
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Mmp1
matrix metallopeptidase 1
IDA
RGD
PMID:22571259
RGD:7207277
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21468558
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp3
matrix metallopeptidase 3
ISO
RGD
PMID:21871427
RGD:8694097
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp9
matrix metallopeptidase 9
treatment
IEP ISO
protein:increased expression:lung, plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21468558 PMID:17121240 PMID:23318412
RGD:1642054 , RGD:13204970
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mt2A
metallothionein 2A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18528683
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28936961
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
IEP ISO
mRNA, protein:increased expression:lung mRNA:increased expression:lung
RGD
PMID:14680076 PMID:19154443
RGD:5131207 , RGD:2314537
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Naf1
nuclear assembly factor 1 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:22,837,583...22,868,320
Ensembl chr16:22,837,588...22,868,293
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Nfe2l2
NFE2 like bZIP transcription factor 2
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23570914 PMID:19138753
RGD:6893396
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Ngf
nerve growth factor
ISO
protein:increased expression:sputum
RGD
PMID:12917229
RGD:4891121
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Ngfr
nerve growth factor receptor
ISO
RGD
PMID:17576803
RGD:5144067
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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Nkx2-5
NK2 homeobox 5
IEP
mRNA:decreased expression:lung, fibroblast
RGD
PMID:19395679
RGD:5131637
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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Nos2
nitric oxide synthase 2
ISO
RGD
PMID:20668217
RGD:4891482
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Notch1
notch receptor 1
IEP
protein:increased expression:lung
RGD
PMID:27982686
RGD:155663660
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO
mRNA, protein:increased expression:lung
RGD
PMID:21330466
RGD:5684550
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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Ogg1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654123
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Parn
poly(A)-specific ribonuclease
ISO
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
PMID:9736620 PMID:16199547 PMID:25741868 PMID:25848748 PMID:26482878 PMID:26810774 PMID:28192371 PMID:28414520 PMID:28492532 PMID:28495692 PMID:30525901 More...
NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560
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Parp1
poly (ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27704718 PMID:23260200
RGD:10413908
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Pdgfa
platelet derived growth factor subunit A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16324872
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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Pdgfb
platelet derived growth factor subunit B
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15286697 PMID:21868503 PMID:22523431
RGD:6482756 , RGD:6482831
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pdgfra
platelet derived growth factor receptor alpha
IEP
RGD
PMID:9458803
RGD:11080970
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Plau
plasminogen activator, urokinase
treatment
ISO IDA
human protein in rat model
RGD
PMID:7516275 PMID:23327706 PMID:12376355
RGD:7241204 , RGD:7241544 , RGD:7241206
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Psen2
presenilin 2
ISO
RGD
PMID:10518543
RGD:1302521
NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174
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Ptgs2
prostaglandin-endoperoxide synthase 2
IEP ISO
associated with sarcoidosis; DNA:SNP: :-765G>C (human)
RGD
PMID:17825173 PMID:21681100
RGD:1642597 , RGD:5135504
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptx3
pentraxin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22210019
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
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Rtel1
regulator of telomere elongation helicase 1
ISO
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
PMID:16199547 PMID:23329068 PMID:23453664 PMID:23959892 PMID:24033266 PMID:25047097 PMID:25326637 PMID:25607374 PMID:25741868 PMID:25848748 PMID:27128385 PMID:27540018 PMID:28099038 PMID:28104920 PMID:28192371 PMID:28492532 PMID:28495916 PMID:28930861 PMID:29146883 PMID:29344583 PMID:29361909 PMID:30523160 PMID:31785789 PMID:36655009 PMID:37392813 More...
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Scgb1a1
secretoglobin family 1A member 1
ISO IEP
associated with scleroderma, systemic; protein:increased expression:serum: mRNA,protein:decreased expression:lung
RGD
PMID:21239758 PMID:16369113
RGD:5144130 , RGD:5144139
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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Scgb3a2
secretoglobin, family 3A, member 2
ISO
RGD
PMID:21478551
RGD:5144129
NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762
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Serpina1
serpin family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:72955
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Serpine1
serpin family E member 1
treatment
ISO IMP IEP
Idiopathic Pulmonary Fibrosis protein:increased activity:plasma
RGD
PMID:20061390 PMID:22659625 PMID:16224526
RGD:4143513 , RGD:8547927 , RGD:4144842
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Sftpa1
surfactant protein A1
disease_progression susceptibility
ISO
mRNA:increased expression:lung DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human) protein:decreased expression:lung
RGD
PMID:19347046 PMID:13680361 PMID:10543276
RGD:4144870 , RGD:4143409 , RGD:4143437
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Sftpb
surfactant protein B
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:13680361
RGD:4143409
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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Sftpc
surfactant protein C
susceptibility
ISO
DNA:polymorphisms: :p.M71V, p.I73T (human) ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar RGD
PMID:15039969 PMID:15293602 PMID:15572558 PMID:15756222 PMID:17597647 PMID:19443464 PMID:21092132 PMID:21707890 PMID:22308375 PMID:25657025 PMID:25741868 PMID:27362365 PMID:28492532 PMID:31081264 PMID:33526882 PMID:20656946 PMID:16251411 More...
RGD:4144060 , RGD:4144124
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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Skil
SKI-like proto-oncogene
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23590892
NCBI chr 2:112,247,047...112,275,176
Ensembl chr 2:112,247,051...112,275,080
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Smad4
SMAD family member 4
treatment
IEP IDA
associated with Silicosis
RGD
PMID:21941776 PMID:22558986
RGD:12880047 , RGD:12880048
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Smad7
SMAD family member 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23590892
NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26699812
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod3
superoxide dismutase 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15298984
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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Sparc
secreted protein acidic and cysteine rich
ISO
associated with Middle East respiratory syndrome;mRNA:increased expression:lung:
RGD
PMID:31838832
RGD:30309204
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Spp1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism associated with Middle East respiratory syndrome;mRNA:increased expression:lung:
CTD RGD
PMID:25216247 PMID:31838832
RGD:30309204
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Stat1
signal transducer and activator of transcription 1
IDA
RGD
PMID:16806015
RGD:1600092
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30658076 PMID:22684844
RGD:6892915
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stat6
signal transducer and activator of transcription 6
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26699812
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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Tab2
TGF-beta activated kinase 1/MAP3K7 binding protein 2
treatment
ISO
RGD
PMID:32506869
RGD:155663374
NCBI chr 1:2,375,026...2,425,115
Ensembl chr 1:2,375,490...2,424,756
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Terc
telomerase RNA component
ISO
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
PMID:10721988 PMID:14630445 PMID:15082312 PMID:15886322 PMID:17460043 PMID:20193600 PMID:21844345 PMID:21931702 PMID:25741868 PMID:26136524 PMID:28492532 More...
NCBI chr 2:112,815,654...112,816,041
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
PMID:12167716 PMID:15814878 PMID:15885610 PMID:16247010 PMID:17264120 PMID:17392301 PMID:17460043 PMID:18042801 PMID:18302718 PMID:18460650 PMID:18635888 PMID:18931339 PMID:19760749 PMID:20022961 PMID:20044353 PMID:20301779 PMID:20502709 PMID:21349926 PMID:21483807 PMID:21602826 PMID:21931702 PMID:22364217 PMID:22664374 PMID:22853774 PMID:22863003 PMID:23901009 PMID:24033266 PMID:25271372 PMID:25365545 PMID:25562321 PMID:25741868 PMID:26024875 PMID:26360549 PMID:26859482 PMID:27418648 PMID:27540018 PMID:28099038 PMID:28102861 PMID:28154186 PMID:28192371 PMID:28492532 PMID:29483670 PMID:30523342 PMID:30995915 PMID:31268371 PMID:33035329 PMID:33718801 PMID:34019641 PMID:34890115 More...
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tfpi
tissue factor pathway inhibitor
treatment
ISO
RGD
PMID:16338226
RGD:11062084
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Tgfa
transforming growth factor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18424623
NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
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Tgfb1
transforming growth factor, beta 1
treatment
ISO IEP IMP
associated with Middle East respiratory syndrome;mRNA:increased expression:lung CTD Direct Evidence: marker/mechanism protein:increased expression:lung associated with Silicosis associated with Asthma
CTD RGD
PMID:15286001 PMID:16324872 PMID:16365456 PMID:17266442 PMID:19817698 PMID:24762191 PMID:26817844 PMID:18403781 PMID:31838832 PMID:26822530 PMID:20833968 PMID:19439069 PMID:19542246 More...
RGD:4145279 , RGD:30309204 , RGD:14995444 , RGD:4145112 , RGD:2307220 , RGD:4145133
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tgfbr2
transforming growth factor, beta receptor 2
IEP
RGD
PMID:17077588
RGD:1601591
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Timp1
TIMP metallopeptidase inhibitor 1
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21468558 PMID:23318412
RGD:13204970
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Tinf2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
PMID:18252230 PMID:21536674 PMID:28492532
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Tlr2
toll-like receptor 2
ISO
associated with Pneumonia
RGD
PMID:19109203 PMID:20610040
RGD:4145324 , RGD:4144177
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
associated with acute lung injury
RGD
PMID:20610040 PMID:20017955
RGD:4144177 , RGD:4144120
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr9
toll-like receptor 9
ISO
mRNA:increased expression:lung (human)
RGD
PMID:18633634
RGD:5130206
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter
CTD RGD
PMID:11394717 PMID:16324872 PMID:17266442 PMID:25216247 PMID:26368622 PMID:2156165 PMID:12030733 PMID:19154443 PMID:7542280 More...
RGD:4142851 , RGD:4143258 , RGD:2314537 , RGD:4143417
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Twist1
twist family bHLH transcription factor 1
ISO
mRNA:increased expression:lung
RGD
PMID:19893041
RGD:5131599
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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Vwf
von Willebrand factor
IEP
associated with Radiation Injuries;protein:increased expression:lung parenchyma
RGD
PMID:8811296
RGD:11079207
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15814878 PMID:15885610 PMID:16199547 PMID:16247010 PMID:16332973 PMID:16627250 PMID:17264120 PMID:17392301 PMID:17460043 PMID:18042801 PMID:18302718 PMID:18460650 PMID:18635888 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19489057 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20022961 PMID:20044353 PMID:20301779 PMID:20502709 PMID:20858879 PMID:20966039 PMID:21258621 PMID:21436073 PMID:21483807 PMID:21520173 PMID:21635204 PMID:21931702 PMID:22364217 PMID:22424236 PMID:22476886 PMID:22512499 PMID:22664374 PMID:22853774 PMID:23335200 PMID:23538340 PMID:23716176 PMID:23901009 PMID:23905534 PMID:24033266 PMID:24833766 PMID:24983628 PMID:25108601 PMID:25365545 PMID:25393420 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:26158642 PMID:26365799 PMID:27354474 PMID:27540018 PMID:27622320 PMID:27836952 PMID:27848944 PMID:28102861 PMID:28104920 PMID:28154186 PMID:28492532 PMID:28677271 PMID:28813500 PMID:29036293 PMID:29146883 PMID:29483670 PMID:29625052 PMID:30203795 PMID:30523342 PMID:31268371 PMID:35776903 More...
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Terc
telomerase RNA component
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
OMIM CTD ClinVar
PMID:12090986 PMID:12676774 PMID:12972604 PMID:14630445 PMID:15082312 PMID:15098033 PMID:15319288 PMID:17392301 PMID:17640862 PMID:18753630 PMID:19760749 PMID:20022961 PMID:21436073 PMID:21844345 PMID:21931702 PMID:22341970 PMID:24033266 PMID:24763404 PMID:25612863 PMID:25741868 PMID:26024875 PMID:28492532 PMID:29146883 PMID:29483670 PMID:30426156 More...
NCBI chr 2:112,815,654...112,816,041
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Eef1a2
eukaryotic translation elongation factor 1 alpha 2
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071
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Fndc11
fibronectin type III domain containing 11
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617
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Gmeb2
glucocorticoid modulatory element binding protein 2
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788
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Helz2
helicase with zinc finger 2
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159
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Kcnq2
potassium voltage-gated channel subfamily Q member 2
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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Ppdpf
pancreatic progenitor cell differentiation and proliferation factor
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036
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Ptk6
protein tyrosine kinase 6
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664
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Rtel1
regulator of telomere elongation helicase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
OMIM CTD ClinVar
PMID:9536098 PMID:14534157 PMID:16199547 PMID:17576681 PMID:19822871 PMID:23329068 PMID:23453664 PMID:23692823 PMID:23829372 PMID:23959892 PMID:24009516 PMID:24033266 PMID:24130156 PMID:24582487 PMID:25047097 PMID:25099625 PMID:25326637 PMID:25607374 PMID:25620558 PMID:25741868 PMID:25848748 PMID:26022962 PMID:26025130 PMID:26136524 PMID:26847928 PMID:27128385 PMID:27415407 PMID:27779742 PMID:28099038 PMID:28104920 PMID:28492532 PMID:28495916 PMID:28930861 PMID:28979815 PMID:29146883 PMID:29296694 PMID:29344583 PMID:30462709 PMID:30523160 PMID:30523342 PMID:30995915 PMID:31785789 PMID:33718801 PMID:34021146 PMID:36655009 PMID:37392813 More...
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Srms
src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915
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Stmn3
stathmin 3
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056
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Parn
poly(A)-specific ribonuclease
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 4 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9736620 PMID:16199547 PMID:16281054 PMID:22834816 PMID:25741868 PMID:25848748 PMID:26342108 PMID:26482878 PMID:26810774 PMID:28192371 PMID:28414520 PMID:28492532 PMID:28495692 PMID:31448843 PMID:34298581 More...
NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560
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Zcchc8
zinc finger CCHC-type containing 8
ISO
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:31488579
NCBI chr12:32,869,170...32,892,707
Ensembl chr12:32,869,310...32,891,325
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Rpa1
replication protein A1
ISO
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | ClinVar Annotator: match by term: RPA1-related short telomere syndrome
OMIM ClinVar
PMID:25741868 PMID:34767620
NCBI chr10:60,148,869...60,199,970
Ensembl chr10:60,148,793...60,199,949
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Naf1
nuclear assembly factor 1 ribonucleoprotein
ISO
ClinVar Annotator: match by term: NAF1-related condition | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
OMIM ClinVar
PMID:25741868 PMID:27510903 PMID:28492532
NCBI chr16:22,837,583...22,868,320
Ensembl chr16:22,837,588...22,868,293
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Pot1
protection of telomeres 1
ISO
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
ClinVar OMIM
PMID:35420632
NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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Nop10
NOP10 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
OMIM ClinVar
PMID:32139460
NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
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Ace
angiotensin I converting enzyme
treatment
ISO IMP
protein:decreased expression:renal medulla, renal cortex, brush border epithelial cell (human)
RGD
PMID:10504496 PMID:10644663
RGD:8158033 , RGD:12879403
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adam17
ADAM metallopeptidase domain 17
ISO
RGD
PMID:22015440
RGD:13703100
NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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Ager
advanced glycosylation end product-specific receptor
treatment
ISO IDA
associated with Diabetes Mellitus, Experimental mRNA:decreased expression:lung (kidney)
RGD
PMID:22698914 PMID:22669512 PMID:21704028
RGD:7243851 , RGD:7245533 , RGD:7244186
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Arrb2
arrestin, beta 2
ISO
associated with ureteral obstruction;mRNA, protein:increased expression:kidney
RGD
PMID:28274926
RGD:13506828
NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
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Bdkrb1
bradykinin receptor B1
ISO
RGD
PMID:18809736
RGD:7241554
NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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Bmp6
bone morphogenetic protein 6
severity
ISO
associated with Ureteral Obstruction
RGD
PMID:21356359
RGD:7242415
NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
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Ccl3
C-C motif chemokine ligand 3
IEP
RGD
PMID:21370451
RGD:7175323
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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Clu
clusterin
IMP
associated with Ureteral Obstruction
RGD
PMID:22052058
RGD:9068421
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Col3a1
collagen type III alpha 1 chain
ISO
protein:increased expression:kidney
RGD
PMID:23224993
RGD:7257551
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Cpb2
carboxypeptidase B2
ISO
associated with Ureteral Obstruction;
RGD
PMID:17988229
RGD:7243118
NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
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Crp
C-reactive protein
onset
ISO
associated with ureteral obstruction
RGD
PMID:21383672 PMID:21383672 PMID:21383672
RGD:6907431 , RGD:6907431 , RGD:6907431
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cybb
cytochrome b-245 beta chain
treatment
IEP ISO
associated with liver transplant;protein:increased expression:kidney:
RGD
PMID:22568654 PMID:22568654
RGD:11040697 , RGD:11040697
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
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Cygb
cytoglobin
treatment
IMP
RGD
PMID:20719976
RGD:9685174
NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442
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Cyp2j4
cytochrome P450, family 2, subfamily j, polypeptide 4
ISO
RGD
PMID:22260463
RGD:7243130
NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794
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Ece1
endothelin converting enzyme 1
IEP
associated with Ureteral obstruction;mRNA:increased expression:kidney
RGD
PMID:11078391
RGD:7244179
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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Ednra
endothelin receptor type A
IEP
associated with Ureteral obstruction;mRNA:increased expression:kidney
RGD
PMID:11078391
RGD:7244179
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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Eng
endoglin
treatment
IEP ISO IDA
associated with Ureteral Obstruction; mRNA, protein:increased expression:kidney (rat) protein:altered expression:kidney (mouse)
RGD
PMID:16440600 PMID:15033991 PMID:15475654
RGD:7248781 , RGD:7248783 , RGD:7248782
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Epas1
endothelial PAS domain protein 1
ISO
RGD
PMID:22299048
RGD:11041600
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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Fcar
Fc alpha receptor
ISO
RGD
PMID:18250479
RGD:7242172
NCBI chr 1:69,626,458...69,660,558
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Fn1
fibronectin 1
ISO
protein:increased expression:kidney:
RGD
PMID:22052058
RGD:9068421
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Gfer
growth factor, augmenter of liver regeneration
treatment
ISO
associated with ureteral obstruction
RGD
PMID:24844766
RGD:13506791
NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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Havcr1
hepatitis A virus cellular receptor 1
ISO
mRNA:increased expression:kidney cortex:
RGD
PMID:22342673
RGD:7245951
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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Ifng
interferon gamma
treatment no_association
IDA
RGD
PMID:10594787 PMID:8289579
RGD:10755746 , RGD:10755751
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Kras
KRAS proto-oncogene, GTPase
treatment
IMP
associated with Ureteral Obstruction
RGD
PMID:22074740
RGD:11060152
NCBI chr 4:178,185,418...178,218,484
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Lcn2
lipocalin 2
ISO
mRNA:increased expression:kidney cortex:
RGD
PMID:22342673
RGD:7245951
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Lepr
leptin receptor
disease_progression
IMP
RGD
PMID:27465994
RGD:12911217
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Leprem2Mcwi
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
disease_progression
IMP
RGD
PMID:27465994
RGD:12911217
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Lrp1
LDL receptor related protein 1
ISO
RGD
PMID:18037995
RGD:7243102
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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Mapk1
mitogen activated protein kinase 1
ameliorates
IEP IMP
RGD
PMID:23698112 PMID:21530658
RGD:7244171 , RGD:401976483
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mir542
microRNA 542
IEP
RNA:increased expression:kidney
RGD
PMID:32470449
RGD:401900731
NCBI chr X:132,802,623...132,802,701
Ensembl chr X:132,802,623...132,802,701
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Mmp1
matrix metallopeptidase 1
ISO
human gene in mouse model; associated with Diabetes Mellitus, Experimental
RGD
PMID:14674437
RGD:7207134
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp9
matrix metallopeptidase 9
IEP
RGD
PMID:23006043
RGD:13204847
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
associated with Ureteral Obstruction; protein:increased expression:kidney (mouse)
RGD
PMID:19297557
RGD:7207450
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Ncf2
neutrophil cytosolic factor 2
ameliorates
IMP
compared to wild-type littermates
RGD
PMID:22326221 PMID:22326221
RGD:9587793 , RGD:9587793
NCBI chr13:64,955,622...64,986,144
Ensembl chr13:64,955,503...64,986,277
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Ncf2em1Mcwi
neutrophil cytosolic factor 2; zinc finger nuclease induced mutant 1,Mcwi
ameliorates
IMP
compared to wild-type littermates
RGD
PMID:22326221 PMID:22326221
RGD:9587793 , RGD:9587793
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Nphs1
NPHS1 adhesion molecule, nephrin
treatment
ISO
associated with primary hyperaldosteronism
RGD
PMID:24108235
RGD:38599161
NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
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Nqo1
NAD(P)H quinone dehydrogenase 1
treatment
ISO
associated with Ureteral Obstruction
RGD
PMID:23056222
RGD:11035221
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Plau
plasminogen activator, urokinase
ISO
associated with Ureteral Obstruction
RGD
PMID:19690163 PMID:15882265
RGD:7241138 , RGD:7241268
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Ppargc1a
PPARG coactivator 1 alpha
IEP
associated with Ureteral Obstruction; mRNA:decreased expression:kidney (rat)
RGD
PMID:21784897
RGD:7242027
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Resp18
regulated endocrine-specific protein 18
IMP
RGD
PMID:29570433
RGD:14348960
NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
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Resp18em2Mcwi
regulated endocrine-specific protein 18; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:29570433
RGD:14348960
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Serpine1
serpin family E member 1
treatment
IDA IEP
associated with Diabetes Mellitus, Experimental protein:increased expression:kidney (rat)
RGD
PMID:27018336 PMID:26869361
RGD:11073616 , RGD:11073686
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Sod2
superoxide dismutase 2
ISO
RGD
PMID:19458120
RGD:7175536
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Stat6
signal transducer and activator of transcription 6
IMP
associated with Renal Insufficiency, Chronic
RGD
PMID:15647835
RGD:7244136
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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Tlr2
toll-like receptor 2
IMP
associated with Ureteral Obstruction
RGD
PMID:22777483
RGD:7207895
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
IMP
associated with Ureteral Obstruction
RGD
PMID:22777483
RGD:7207895
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
associated with Ureteral Obstruction
RGD
PMID:10564241
RGD:7245536
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Xdh
xanthine dehydrogenase
treatment
IMP
associated with Ureteral Obstruction
RGD
PMID:22350467
RGD:7247643
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Cd36
CD36 molecule
ISO
RGD
PMID:16014033
RGD:6893538
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Lbr
lamin B receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome
OMIM CTD ClinVar
PMID:18382993 PMID:20522425 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32827848 More...
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
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Lmx1b
LIM homeobox transcription factor 1 beta
ISO
ClinVar Annotator: match by term: Nail-patella-like renal disease
OMIM ClinVar
PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 PMID:28492532 PMID:29127259 PMID:32356190 PMID:32581362 PMID:32791958 PMID:33532864 More...
NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
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Il6
interleukin 6
ISO
RGD
PMID:24790857
RGD:10402815
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il6r
interleukin 6 receptor
treatment
ISO
RGD
PMID:24790857
RGD:10402815
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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Ccl5
C-C motif chemokine ligand 5
IMP
RGD
PMID:18707039
RGD:4890014
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
treatment
IMP
RGD
PMID:23395555
RGD:7257719
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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Egr1
early growth response 1
IEP
mRNA, protein:increased expression:peritoneum, adhesion (rat)
RGD
PMID:14961185
RGD:5131938
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Azgp1
alpha-2-glycoprotein 1, zinc-binding
exacerbates treatment
ISO
associated with ureteral obstruction;
RGD
PMID:25788525 PMID:25788525
RGD:153350149 , RGD:153350149
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
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Col1a1
collagen type I alpha 1 chain
ameliorates
ISO
RGD
PMID:32065356
RGD:401824679
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Epo
erythropoietin
treatment
ISO
RGD
PMID:22678524
RGD:10401065
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Gclm
glutamate cysteine ligase, modifier subunit
IEP
RGD
PMID:21152904
RGD:5134352
NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535
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Lefty1
left right determination factor 1
ameliorates
ISO
RGD
PMID:32065356
RGD:401824679
NCBI chr13:92,649,226...92,659,722
Ensembl chr13:92,656,323...92,659,720
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Mir542
microRNA 542
exacerbates
IDA
RGD
PMID:32470449
RGD:401900731
NCBI chr X:132,802,623...132,802,701
Ensembl chr X:132,802,623...132,802,701
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Smad3
SMAD family member 3
ameliorates
ISO
RGD
PMID:32065356
RGD:401824679
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Tgfb1
transforming growth factor, beta 1
ameliorates
IMP ISO IEP
mRNA:increased expression:kidney
RGD
PMID:23249995 PMID:32065356 PMID:15007308
RGD:13446413 , RGD:401824679 , RGD:1304308
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tgfbi
transforming growth factor, beta induced
IEP
mRNA, protein:increased expression:kidney
RGD
PMID:15007308
RGD:1304308
NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
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Ddr2
discoidin domain receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Warburg-cinotti syndrome
OMIM ClinVar
PMID:9536098 PMID:17103436 PMID:17576681 PMID:23637089 PMID:25741868 PMID:28492532 PMID:30449416 More...
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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