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: scleroderma
Accession: DOID:419
browse the term
Definition: A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. (DO)
Synonyms: exact_synonym: dermatosclerosis
xref: EFO:1001993 ; NCI:C26746
For additional species annotation, visit the
Alliance of Genome Resources .
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RT1-CE16
RT1 class I, locus CE16
susceptibility
ISO
DNA:polymorphisms:HLA-A30, 32
RGD
PMID:16078323
RGD:329961298
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Slc39a13
solute carrier family 39 member 13
ISO
ClinVar Annotator: match by term: Scleroderma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226
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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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Fbn1
fibrillin 1
ISO
RGD
PMID:10395706
RGD:12910471
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Adipoq
adiponectin, C1Q and collagen domain containing
severity
ISO
protein:decreased expression:serum
RGD
PMID:21615510
RGD:8694418
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Agt
angiotensinogen
ISO
protein:increased expression:serum
RGD
PMID:14730619
RGD:8548886
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Bank1
B-cell scaffold protein with ankyrin repeats 1
susceptibility
ISO
DNA:SNPs: :rs10516487,rs17266594,rs3733197(human)
RGD
PMID:19815934
RGD:9684975
NCBI chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
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Cav1
caveolin 1
susceptibility no_association
ISO
DNA:SNPs:intron, 3' utr: (rs729949, rs3815412, rs9920) (human) DNA:SNPs:enhancer, intron:multiple
RGD
PMID:22402147 PMID:22402147
RGD:8661768 , RGD:8661768
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cxcl6
C-X-C motif chemokine ligand 6
ISO
RGD
PMID:18432520
RGD:5135258
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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Fcgr2a
Fc gamma receptor 2A
ISO
RGD
PMID:8254199
RGD:5147984
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Il10
interleukin 10
ISO
protein:increased expression:serum
RGD
PMID:9034992
RGD:5684371
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13
interleukin 13
ISO
DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human)
RGD
PMID:16832637
RGD:5684369
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il6
interleukin 6
treatment
ISO
RGD
PMID:20338043
RGD:12792275
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irak1
interleukin-1 receptor-associated kinase 1
susceptibility
ISO
DNA:missense mutation:cds:p.F196S (rs1059702) (human)
RGD
PMID:21898345
RGD:7495782
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:serum:
RGD
PMID:19886888
RGD:8551850
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism::HLA-DQA1*0501;
RGD
PMID:11014350
RGD:8547725
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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Stat4
signal transducer and activator of transcription 4
susceptibility no_association
ISO
DNA:SNP:introns: (rs7574865, rs10168266) (human) DNA:SNP:intron: (rs7574865) (human) DNA:SNP:intron: (rs3821236) (human)
RGD
PMID:23755762 PMID:19286670 PMID:23755762
RGD:8661701 , RGD:8661714 , RGD:8661701
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tap1
transporter 1, ATP binding cassette subfamily B member
susceptibility
ISO
RGD
PMID:16112028
RGD:1578361
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
RGD
PMID:16112028
RGD:1578361
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Tgfbr1
transforming growth factor, beta receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27228633
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Tlr2
toll-like receptor 2
disease_progression
ISO
DNA:polymorphism:cds:p.P631H(rs5743704)(human)
RGD
PMID:21905008
RGD:8553044
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Wrn
WRN RecQ like helicase
ISO
RGD
PMID:16906373
RGD:10042980
NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
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Stat4
signal transducer and activator of transcription 4
ISO
ClinVar Annotator: match by term: Disabling pansclerotic morphea of childhood | ClinVar Annotator: match by term: STAT4-related condition
ClinVar OMIM
PMID:25741868 PMID:28492532 PMID:37256972
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Cav1
caveolin 1
susceptibility no_association
ISO
DNA:SNPs:enhancer, intron:multiple DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human)
RGD
PMID:22402147 PMID:22402147
RGD:8661768 , RGD:8661768
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA,protein:increased expression:skin:
RGD
PMID:12925209
RGD:8661733
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccr2
C-C motif chemokine receptor 2
ISO
mRNA,protein:increased expression:skin:
RGD
PMID:12925209
RGD:8661733
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Fas
Fas cell surface death receptor
ISO
RGD
PMID:17102953
RGD:12903974
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:17102953
RGD:12903974
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Il2
interleukin 2
susceptibility
ISO
DNA:polymorphism::-384T>G(human)
RGD
PMID:17444587
RGD:4142872
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Jak2
Janus kinase 2
ISO
RGD
PMID:20808962
RGD:4892610
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:serum:
RGD
PMID:19886888
RGD:8551850
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Pgf
placental growth factor
ISO
protein:increased expression:plasma
RGD
PMID:22461185
RGD:6483571
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Serpine1
serpin family E member 1
ISO
mRNA,protein:increased expression:skin:
RGD
PMID:15730388
RGD:13208597
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
no_association susceptibility
ISO
DNA:SNPs:introns: (rs10168266, rs3821236) (human) DNA:SNP:intron: (rs7574865) (human)
RGD
PMID:23755762 PMID:23755762 PMID:19286670
RGD:8661701 , RGD:8661701 , RGD:8661714
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
RGD
PMID:16112028
RGD:1578361
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Col1a1
collagen type I alpha 1 chain
ISO
mRNA:increased expression:dermis
RGD
PMID:15727634
RGD:5688298
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
mRNA,protein:increased expression:skin:
RGD
PMID:15803328
RGD:8662838
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15863969
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Hgf
hepatocyte growth factor
treatment
ISO
RGD
PMID:14712301
RGD:8548627
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:7916356
RGD:8158116
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
ISO
protein:increased expression:serum
RGD
PMID:12920362
RGD:8549537
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Lmna
lamin A/C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15726408
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Mmp1
matrix metallopeptidase 1
ISO
RGD
PMID:9804345
RGD:1582543
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Tgfb1
transforming growth factor, beta 1
ISO
RGD
PMID:7510487
RGD:7394847
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9843018
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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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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Smarcad1
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1`
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities
OMIM CTD ClinVar
PMID:4298032 PMID:8731679 PMID:10631162 PMID:24909267 PMID:25741868 PMID:29409814 More...
NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563
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Ace
angiotensin I converting enzyme
ISO
protein:decreased expression:plasma
GAD RGD
PMID:15118671 PMID:17360781
RGD:1331525 , RGD:8548889
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:24706986
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
ISO
protein:decreased expression:plasma (human)
RGD
PMID:12935979
RGD:10449040
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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Ager
advanced glycosylation end product-specific receptor
ISO
protein:increased expression:serum
RGD
PMID:18825489 PMID:18825489
RGD:8695973 , RGD:8695973
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agt
angiotensinogen
ISO
protein:decreased expression:plasma
RGD
PMID:17360781
RGD:8548889
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Anxa5
annexin A5
severity
ISO
RGD
PMID:21124692
RGD:7242029
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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Arpc2
actin related protein 2/3 complex, subunit 2
ISO
protein:increased expression:saliva (human)
RGD
PMID:17722226
RGD:11049167
NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471
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Bank1
B-cell scaffold protein with ankyrin repeats 1
susceptibility
ISO
DNA:SNPs: :rs10516487,rs17266594(human)
RGD
PMID:19815934
RGD:9684975
NCBI chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
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Bdnf
brain-derived neurotrophic factor
ISO
protein:decreased expression:serum:
RGD
PMID:21085492
RGD:5144060
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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C3
complement C3
ISO
protein:increased expression:plasma
RGD
PMID:2803327
RGD:7421518
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cav1
caveolin 1
susceptibility
ISO
DNA:SNPs:enhancer, intron: (rs7795356, rs926198, rs959173) (human) protein:decreased expression:lung, skin
RGD
PMID:22402147 PMID:18759267
RGD:8661768 , RGD:8661773
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Ccl2
C-C motif chemokine ligand 2
severity
ISO
protein:increased expression:respiratory system fluid/secretion protein:increased expression:serum
RGD
PMID:19615053 PMID:21049277 PMID:21285114
RGD:4891453 , RGD:5135284 , RGD:5683876
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl20
C-C motif chemokine ligand 20
ISO
mRNA:increased expression:skin
RGD
PMID:21742595
RGD:7483587
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Ccl3
C-C motif chemokine ligand 3
ISO
protein:increased expression:serum
RGD
PMID:21285114
RGD:5683876
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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Ccl4
C-C motif chemokine ligand 4
ISO
protein:increased expression:serum
RGD
PMID:21285114
RGD:5683876
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Ccn1
cellular communication network factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27482699
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24706986
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:23142052
RGD:9479741
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr6
C-C motif chemokine receptor 6
ISO
mRNA:increased expression:skin
RGD
PMID:21742595
RGD:7483587
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
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Cd247
Cd247 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20383147
NCBI chr13:78,043,302...78,118,437
Ensembl chr13:78,043,307...78,122,263
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Cd86
CD86 molecule
ISO
DNA:snp:5' utr:g.-3479T>G (human)
RGD
PMID:16790753
RGD:4892554
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cfb
complement factor B
ISO
protein:increased expression:plasma
RGD
PMID:2803327
RGD:7421518
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:16195162
RGD:4892666
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Clu
clusterin
ISO
protein:increased expression:serum
RGD
PMID:22350181
RGD:8898558
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27228633
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:27228633
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
RGD
PMID:1697606
RGD:5688336
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:24706986
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
ISS
OMIM:181750
MouseDO
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Cp
ceruloplasmin
ISO
protein:increased expression:serum
RGD
PMID:32630589
RGD:401827129
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Csf1
colony stimulating factor 1
IEP
mRNA:increased expression:skin
RGD
PMID:22700848
RGD:7257593
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
protein:increased expression:serum
RGD
PMID:15608300
RGD:4891898
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
protein:increased expression:lung, skin DNA:polymorphisms: :p.V249I, p.T280M (human)
RGD
PMID:15608300 PMID:23142052 PMID:16584113
RGD:4891898 , RGD:9479741 , RGD:4891896
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:serum
RGD
PMID:21303517 PMID:21049277
RGD:5135279 , RGD:5135284
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl16
C-X-C motif chemokine ligand 16
ISO
protein:increased expression:serum, skin, endothelial cell
RGD
PMID:21303517
RGD:5135279
NCBI chr10:55,166,721...55,171,316
Ensembl chr10:55,166,723...55,171,592
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:serum
RGD
PMID:21303517 PMID:21049277
RGD:5135279 , RGD:5135284
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
protein:decreased expression:skin, endothelial cell
RGD
PMID:21303517
RGD:5135279
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Cxcr6
C-X-C motif chemokine receptor 6
ISO
protein:increased expression:skin, endothelial cell
RGD
PMID:21303517
RGD:5135279
NCBI chr 8:123,434,417...123,439,568
Ensembl chr 8:123,416,325...123,439,526
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Edn1
endothelin 1
ISO
protein:increased secretion:plasma (human)
RGD
PMID:7653485
RGD:4145072
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Eln
elastin
ISO
RGD
PMID:22563211
RGD:9585742
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Esr1
estrogen receptor 1
susceptibility
ISO
DNA:SNP:intron:
RGD
PMID:19032828
RGD:8553058
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Esr2
estrogen receptor 2
no_association
ISO
DNA:SNP:exon:
RGD
PMID:19032828
RGD:8553058
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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F11r
F11 receptor
ISO
RGD
PMID:19153103
RGD:7488918
NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402
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F2
coagulation factor II, thrombin
ISO
protein:increased expression:plasma:
RGD
PMID:9374919
RGD:11565087
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Fbn1
fibrillin 1
susceptibility
ISO ISS
OMIM:181750 DNA:insertion:5' utr
MouseDO RGD
PMID:11123012 PMID:10395706 PMID:12384286
RGD:7387265 , RGD:12910471 , RGD:12904889
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Fli1
Fli-1 proto-oncogene, ETS transcription factor
ISS
OMIM:181750
MouseDO
NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
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Flt4
Fms related receptor tyrosine kinase 4
ISO
protein:increased expression:skin:
RGD
PMID:21865112
RGD:8552335
NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
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Fstl1
follistatin-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27482699
NCBI chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677
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Gpx3
glutathione peroxidase 3
ISO
protein:decreased expression:serum
RGD
PMID:32630589
RGD:401827129
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:missense mutation:cds:p.K173N (human)
RGD
PMID:15135176
RGD:12798510
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Hdac5
histone deacetylase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27482699
NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235
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Hgf
hepatocyte growth factor
treatment severity
ISO
protein:increased expression:serum: mRNA:increased expression:skin:
RGD
PMID:17049072 PMID:24387171 PMID:22286923
RGD:8548624 , RGD:8548659 , RGD:8548651
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Hmgb1
high mobility group box 1
ISO
protein:increased expression:serum
RGD
PMID:18825489
RGD:8695973
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Hnrnpl
heterogeneous nuclear ribonucleoprotein L
ISO
RGD
PMID:21569507
RGD:9999440
NCBI chr 1:84,098,558...84,111,568
Ensembl chr 1:84,100,879...84,111,553
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Icam1
intercellular adhesion molecule 1
disease_progression
ISO
protein:increased expression:blood
RGD
PMID:18759276 PMID:8099861 PMID:1371389
RGD:8158120 , RGD:8547587 , RGD:8547576
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ifng
interferon gamma
treatment
ISO
RGD
PMID:1418004
RGD:8157622
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Igfbp3
insulin-like growth factor binding protein 3
ISO
protein:increased expression:serum:
RGD
PMID:19004037
RGD:12743606
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Il13
interleukin 13
no_association
ISO
mRNA, protein:increased expression:skin DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) protein:increased expression:serum
RGD
PMID:15564778 PMID:22045834 PMID:9034992
RGD:5684370 , RGD:8549502 , RGD:5684371
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il13ra1
interleukin 13 receptor subunit alpha 1
no_association
ISO
DNA:SNP:intron:43163G>A (rs6646259) (human)
RGD
PMID:22045834
RGD:8549502
NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
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Il17a
interleukin 17A
ISO
protein:increased expression:epidermis, endodermis, mast cell (human)
RGD
PMID:22833167 PMID:23335253
RGD:8696037 , RGD:8696038
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1b
interleukin 1 beta
susceptibility
ISO
DNA:polymorphisms:promoter:-31T>C,-511C>T (human)
RGD
PMID:17444587
RGD:4142872
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1r1
interleukin 1 receptor type 1
ISO
RGD
PMID:1375465
RGD:8662902
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
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Il2
interleukin 2
ISO
protein:increased expression:serum:
RGD
PMID:2213757
RGD:8663482
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il23r
interleukin 23 receptor
no_association
ISO
DNA:SNPs: :rs11209026, rs11465804 (human) DNA:SNPs: :rs11209032,rs1495965(human)
RGD
PMID:19918037 PMID:18713787
RGD:5096624 , RGD:8549603
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Il27
interleukin 27
ISO
protein:increased expression:serum
RGD
PMID:20705635
RGD:5128477
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Il27ra
interleukin 27 receptor subunit alpha
ISO
mRNA:increased expression:skin
RGD
PMID:20705635
RGD:5128477
NCBI chr19:24,109,963...24,121,977
Ensembl chr19:24,109,972...24,121,938
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Il4
interleukin 4
ISO
protein:increased expression:serum mRNA, protein:increased expression, splice variant:blood, mononuclear cell, plasma
RGD
PMID:9034992 PMID:10473513
RGD:5684371 , RGD:7829819
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
treatment
ISO
RGD
PMID:23406616
RGD:12792238
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irf5
interferon regulatory factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20383147
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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Jam3
junctional adhesion molecule 3
ISO
protein:increased expression:skin protein:decreased expression:skin, endothelial cell
RGD
PMID:23001478 PMID:19439502
RGD:7488920 , RGD:7488937
NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
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Kdr
kinase insert domain receptor
ISO
protein:decreased expression:bone marrow: protein:increased expression:skin:
RGD
PMID:22271757 PMID:21865112
RGD:8551843 , RGD:8552335
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Lta
lymphotoxin alpha
susceptibility
ISO
DNA:SNP:intron:252A>G (human)
RGD
PMID:10600011
RGD:8548796
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Mmp1
matrix metallopeptidase 1
severity
ISO
mRNA:decreased expression:skin protein:increased expression:serum
RGD
PMID:22286923 PMID:12051403
RGD:8548651 , RGD:8693663
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp3
matrix metallopeptidase 3
severity
ISO
protein:increased expression:serum
RGD
PMID:12051403 PMID:15498049
RGD:8693663 , RGD:8693674
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
ISO
RGD
PMID:15642145
RGD:1580577
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:19286849
RGD:4143496
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Nat2
N-acetyltransferase 2
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:10599336
RGD:5147680
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27482699
NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
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Ngf
nerve growth factor
ISO
protein:increased expression:serum
RGD
PMID:21085492
RGD:5144060
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Notch4
notch receptor 4
ISO
DNA: SNPs: non-coding :multiple
RGD
PMID:21779181
RGD:6480691
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:superficial vasculature (human)
RGD
PMID:20228226
RGD:11541095
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Pf4
platelet factor 4
severity
ISO
RGD
PMID:34556381
RGD:329901818
NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:21979415
RGD:5508306
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA: snp: cds: rs2476601 DNA:missense mutation:cds:p.R620W (rs2476601) (human)
RGD
PMID:21131644 PMID:16464986
RGD:6484551 , RGD:7829741
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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Rbp4
retinol binding protein 4
disease_progression
ISO
associated with Raynaud disease and interstitial lung disease; protein:decreased expression:blood serum (human)
RGD
PMID:22211766
RGD:329845579
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Rhob
ras homolog family member B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21750679
NCBI chr 6:31,363,752...31,365,926
Ensembl chr 6:31,363,548...31,366,108
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism::HLA-DQA1*0501;
RGD
PMID:11014350
RGD:8547725
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20383147
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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S1pr5
sphingosine-1-phosphate receptor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29033951
NCBI chr 8:19,786,676...19,791,862
Ensembl chr 8:19,786,663...19,791,795
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Selenop
selenoprotein P
ISO
protein:decreased expression:serum
RGD
PMID:32630589
RGD:401827129
NCBI chr 2:52,498,123...52,508,409
Ensembl chr 2:52,498,339...52,508,852
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Serpine1
serpin family E member 1
ISO
protein:increased expression:dermis,microvessel:
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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Serpinf2
serpin family F member 2
ISO
protein:increased expression:plasma
RGD
PMID:12595617
RGD:1625530
NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25707573
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Sirt7
sirtuin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25707573
NCBI chr10:105,896,476...105,903,301
Ensembl chr10:105,896,476...105,903,172
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:repeat, polymorphism:promoter, intron: (human)
RGD
PMID:17876529
RGD:5684940
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
DNA:SNP:intron: (rs7574865) (human) CTD Direct Evidence: marker/mechanism DNA:SNP:intron: (rs11889341) (human)
CTD RGD
PMID:20383147 PMID:19644887 PMID:19950257
RGD:8661700 , RGD:8661711
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tnip1
TNFAIP3 interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21750679
NCBI chr10:39,037,048...39,084,328
Ensembl chr10:39,037,058...39,077,625
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:skin protein:increased expression:bone marrow: protein:increased expression:serum: mRNA,protein:increased expression:skin:
RGD
PMID:16426919 PMID:22271757 PMID:24387171 PMID:21636803
RGD:5684416 , RGD:8551843 , RGD:8548659 , RGD:7421579
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vwf
von Willebrand factor
severity
ISO
RGD
PMID:22596213
RGD:7205639
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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