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: juvenile rheumatoid arthritis
Accession: DOID:676
browse the term
Definition: A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. (DO)
Synonyms: exact_synonym: Juvenile Onset Still Disease; Juvenile Onset Stills Disease; Juvenile-Onset Still's Disease; Still's disease; juvenile arthritis
narrow_synonym: acute juvenile rheumatoid arthritis; enthesitis-related juvenile idiopathic arthritis; extended oligoarticular juvenile idiopathic arthritis; juvenile chronic arthritis; juvenile chronic polyarthritis; juvenile enthesitis-related arthritis; juvenile idiopathic arthritis; juvenile oligoarthritis; juvenile polyarthritis, rheumatoid factor negative; juvenile polyarthritis, rheumatoid factor positive; juvenile psoriatic arthritis; juvenile systemic arthritis; monarticular juvenile rheumatoid arthritis; pauciarticular juvenile arthritis; pauciarticular onset juvenile chronic arthritis; polyarticular juvenile idiopathic arthritis; polyarticular juvenile idiopathic arthritis, rheumatoid factor negative; polyarticular juvenile idiopathic arthritis, rheumatoid factor positive; psoriasis-related juvenile idiopathic arthritis; unspecified juvenile idiopathic arthritis
primary_id: MESH:D001171
alt_id: OMIM:618795
xref: EFO:0002609 ; EFO:0009730 ; EFO:0009731 ; EFO:0009732 ; EFO:0009733 ; EFO:0009734 ; EFO:0009746 ; EFO:1002007 ; EFO:1002020 ; GARD:3067 ; ICD10CM:M08.4 ; ICD9CM:714.3 ; ICD9CM:714.31 ; ICD9CM:714.32 ; ICD9CM:714.33 ; NCI:C26979 ; NCI:C61279 ; ORDO:92
For additional species annotation, visit the
Alliance of Genome Resources .
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ACP3
acid phosphatase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:73,471,837...73,530,778
Ensembl chr13:73,471,889...73,530,011
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ACRBP
acrosin binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:64,036,810...64,047,846
Ensembl chr 5:64,037,095...64,047,847
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ADCY7
adenylate cyclase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:34,521,503...34,586,384
Ensembl chr 6:34,519,180...34,585,779
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ALOX12
arachidonate 12-lipoxygenase, 12S type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:52,401,861...52,414,913
Ensembl chr12:52,401,810...52,414,903
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ANKRD9
ankyrin repeat domain 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
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AOPEP
aminopeptidase O (putative)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310
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AQP9
aquaporin 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:113,798,380...113,848,452
Ensembl chr 1:113,794,040...113,848,683
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AREG
amphiregulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:70,417,935...70,428,106
Ensembl chr 8:70,417,923...70,428,102
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ASAP1
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:10,103,860...10,451,928
Ensembl chr 4:10,179,758...10,451,929
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AVL9
AVL9 cell migration associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:40,663,728...40,739,115
Ensembl chr18:40,663,730...40,739,080
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B4GALT5
beta-1,4-galactosyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:51,257,273...51,334,566
Ensembl chr17:51,259,813...51,334,020
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BEND2
BEN domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr X:14,635,795...14,703,934
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BLTP3B
bridge-like lipid transfer protein family member 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:83,935,628...84,041,753
Ensembl chr 5:83,935,703...84,042,202
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BTG1
BTG anti-proliferation factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:90,815,194...90,817,936
Ensembl chr 5:90,815,202...90,817,142
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BTG3
BTG anti-proliferation factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:182,209,850...182,228,626
Ensembl chr13:182,208,958...182,227,971
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C15H2orf88
chromosome 15 C2orf88 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:94,628,283...94,794,114
Ensembl chr15:94,478,021...94,791,775
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C8B
complement C8 beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7980680
NCBI chr 6:155,411,982...155,453,034
Ensembl chr 6:155,387,145...155,453,438
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C9orf72
C9orf72-SMCR8 complex subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:38,389,366...38,415,903
Ensembl chr10:38,389,331...38,415,901
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CALD1
caldesmon 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:14,267,955...14,486,641
Ensembl chr18:14,267,959...14,486,726
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CAMSAP1
calmodulin regulated spectrin associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
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CCDC122
coiled-coil domain containing 122
ISO
ClinVar Annotator: match by term: JUVENILE ARTHRITIS
ClinVar
PMID:25741868
NCBI chr11:23,159,655...23,199,074
Ensembl chr11:23,159,470...23,198,885
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CCR5
C-C motif chemokine receptor 5
no_association
ISO
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) DNA:polymorphisms: :multiple (human)
RGD
PMID:16775617 PMID:17565662
RGD:1626283 RGD:1626284
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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CD14
CD14 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581
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CD83
CD83 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:10,346,122...10,385,968
Ensembl chr 7:10,359,211...10,385,961
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CD8B
CD8 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:57,968,358...57,986,450
Ensembl chr 3:57,968,383...57,986,441
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CIITA
class II major histocompatibility complex transactivator
no_association susceptibility
ISO
DNA:polymorphism:promoter:rs3087456, no association in a German cohort DNA:polymorphism:exon:1614G>C (human)
RGD
PMID:16426246 PMID:17661914
RGD:5491187 RGD:5491189
NCBI chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780
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CLU
clusterin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764
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CMTM2
CKLF like MARVEL transmembrane domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:27,281,809...27,295,429
Ensembl chr 6:27,282,070...27,295,522
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CREM
cAMP responsive element modulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:57,829,523...57,895,610
Ensembl chr10:57,829,518...57,895,610
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CRP
C-reactive protein, pentraxin-related
ISO
protein:increased expression:serum
RGD
PMID:22885951
RGD:6906884
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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CTTN
cortactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:3,031,103...3,060,796
Ensembl chr 2:3,031,103...3,060,813
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CXCR2
C-X-C motif chemokine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:120,219,657...120,230,203
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CXCR4
C-X-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504 PMID:26387944
NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232
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DAPK1
death associated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:27,724,644...27,954,708
Ensembl chr10:27,724,648...27,954,350
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DDIT3
DNA damage inducible transcript 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,445...22,789,829
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DUSP1
dual specificity phosphatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086
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DUSP2
dual specificity phosphatase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:47,052,443...47,054,816
Ensembl chr 3:47,052,458...47,054,810
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DUSP4
dual specificity phosphatase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:55,491,084...55,508,460
Ensembl chr15:55,491,087...55,508,455
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DYSF
dysferlin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967
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EGF
epidermal growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046
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EGR1
early growth response 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
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ELF2
E74 like ETS transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:87,774,594...87,878,847
Ensembl chr 8:87,854,699...87,878,662
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ETNK1
ethanolamine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:50,914,808...50,970,748
Ensembl chr 5:50,914,814...50,970,697
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ETV6
ETS variant transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:60,523,530...60,776,792
Ensembl chr 5:60,523,433...60,776,750
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FAM20A
FAM20A golgi associated secretory pathway pseudokinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:11,606,469...11,663,086
Ensembl chr12:11,607,034...11,657,737
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FAXDC2
fatty acid hydroxylase domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:68,359,243...68,389,968
Ensembl chr16:68,359,307...68,389,965
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FCGR1A
Fc fragment of IgG, high affinity Ia, receptor (CD64)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:99,233,632...99,242,531
Ensembl chr 4:99,233,611...99,242,586
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FCHSD2
FCH and double SH3 domains 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:7,366,516...7,619,960
Ensembl chr 9:7,366,523...7,608,469
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554
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FOSB
FosB proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:51,836,780...51,844,531
Ensembl chr 6:51,837,719...51,844,529
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FOSL2
FOS like 2, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:110,820,403...110,842,903
Ensembl chr 3:110,823,666...110,843,068
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FOXP1
forkhead box P1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,348,234...52,876,892
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GADD45A
growth arrest and DNA damage inducible alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:144,940,702...144,944,089
Ensembl chr 6:144,940,697...144,944,089
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GMPR
guanosine monophosphate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:12,254,393...12,298,802
Ensembl chr 7:12,254,388...12,299,531
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GNG11
G protein subunit gamma 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:73,721,327...73,726,229
Ensembl chr 9:73,721,322...73,726,222
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GP1BB
glycoprotein Ib platelet subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
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H2AC4
H2A clustered histone 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:20,729,940...20,730,466
Ensembl chr 7:20,729,997...20,730,389
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HBEGF
heparin binding EGF like growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:142,102,455...142,115,192
Ensembl chr 2:142,102,458...142,115,174
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HERPUD2
HERPUD family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:38,284,520...38,326,323
Ensembl chr18:38,284,520...38,326,311
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HFE
homeostatic iron regulator
ISO
DNA:missense mutation:cds:p.C282Y (human)
RGD
PMID:16047841
RGD:8694357
NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000
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HSPA6
heat shock protein family A (Hsp70) member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:88,970,592...88,973,109
Ensembl chr 4:88,970,599...88,973,918
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HSPD1
heat shock protein family D (Hsp60) member 1
ISO
protein:increased expression:serum,synovial fluid:
RGD
PMID:8255671
RGD:12910480
NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526
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IGF1R
insulin like growth factor 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058
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IL1A
interleukin 1 alpha
ISO
DNA:SNP:promoter:-889C>T (human)
RGD
PMID:8162643
RGD:7794716
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
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IL1RN
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
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IL2
interleukin 2
ISO
protein:increased expression:mononuclear cell
RGD
PMID:21859687
RGD:5147870
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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IL6
interleukin 6
ISO
protein:increased expression:serum:
RGD
PMID:9489833
RGD:7829742
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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ITGA2B
integrin subunit alpha 2b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:18,860,739...18,877,381
Ensembl chr12:18,860,739...18,877,381
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ITGB5
integrin subunit beta 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:135,468,111...135,587,483
Ensembl chr13:135,467,798...135,587,473
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JMJD1C
jumonji domain containing 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:66,640,845...66,966,911
Ensembl chr14:66,640,849...66,920,324
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JUN
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636
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KAT6B
lysine acetyltransferase 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,404,136...77,597,673
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KCNJ15
potassium inwardly rectifying channel subfamily J member 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:201,894,036...201,941,449
Ensembl chr13:201,894,420...201,939,789
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KLF4
KLF transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:248,604,817...248,609,574
Ensembl chr 1:248,604,820...248,609,035
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KRAS
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
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LACC1
laccase domain containing 1
ISO
ClinVar Annotator: match by term: JUVENILE ARTHRITIS
OMIM ClinVar
PMID:25147203 PMID:25220867 PMID:25741868 PMID:27881174 PMID:29717096 PMID:31811059 More...
NCBI chr11:23,143,708...23,159,790
Ensembl chr11:23,141,133...23,159,649
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LOC102160336
ubiquitin-conjugating enzyme E2 E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:10,605,837...10,683,819
Ensembl chr13:10,605,503...10,683,816
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LPP
LIM domain containing preferred translocation partner in lipoma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:125,782,373...126,478,927
Ensembl chr13:125,782,471...126,463,303
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MAD1L1
mitotic arrest deficient 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:1,236,066...1,559,346
Ensembl chr 3:1,236,076...1,559,041
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MAFF
MAF bZIP transcription factor F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:9,683,651...9,696,128
Ensembl chr 5:9,683,660...9,696,023
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MAML2
mastermind like transcriptional coactivator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:27,993,319...28,372,982
Ensembl chr 9:27,997,887...28,371,397
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MAP2
microtubule associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:112,156,578...112,462,932
Ensembl chr15:112,236,119...112,462,929
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MAPK1
mitogen-activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
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MBL2
mannose binding lectin 2
ISO
RGD
PMID:18334024
RGD:12910845
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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MEX3C
mex-3 RNA binding family member C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:100,678,452...100,699,277
Ensembl chr 1:100,676,660...100,699,403
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MS4A4A
membrane spanning 4-domains A4A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:11,226,146...11,368,033
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MSN
moesin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr X:51,844,197...51,967,674
Ensembl chr X:51,844,156...51,970,107
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MTSS1
MTSS I-BAR domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:14,933,290...15,103,256
Ensembl chr 4:14,933,331...15,103,253
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MYZAP
myocardial zonula adherens protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:114,287,622...114,386,418
Ensembl chr 1:114,287,627...114,386,427
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NDEL1
nudE neurodevelopment protein 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:53,553,897...53,640,470
Ensembl chr12:53,557,175...53,640,457
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NR4A2
nuclear receptor subfamily 4 group A member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:63,487,051...63,506,249
Ensembl chr15:63,487,731...63,495,299
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NR4A3
nuclear receptor subfamily 4 group A member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:241,569,867...241,611,735
Ensembl chr 1:241,570,010...241,611,727
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NRG1
neuregulin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,630,679...52,839,505
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OLR1
oxidized low density lipoprotein receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:61,799,356...61,809,691
Ensembl chr 5:61,799,286...61,810,624
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OSM
oncostatin M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:47,242,767...47,246,836
Ensembl chr14:47,242,774...47,246,838
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PACSIN2
protein kinase C and casein kinase substrate in neurons 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:5,853,377...5,985,174
Ensembl chr 5:5,853,377...5,985,169
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PCYT1B
phosphate cytidylyltransferase 1B, choline
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr X:20,605,769...20,743,081
Ensembl chr X:20,605,945...20,743,134
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PER1
period circadian regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:53,361,863...53,376,723
Ensembl chr12:53,361,889...53,374,248
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PGM5
phosphoglucomutase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:221,634,516...221,837,764
Ensembl chr 1:221,634,524...221,836,459
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PLAUR
plasminogen activator, urokinase receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:50,489,773...50,505,453
Ensembl chr 6:50,489,777...50,505,418
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PLK2
polo like kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:37,299,116...37,305,114
Ensembl chr16:37,299,119...37,305,114
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PLOD2
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:86,402,673...86,513,167
Ensembl chr13:86,401,244...86,513,105
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PROS1
protein S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:165,915,298...165,999,118
Ensembl chr13:165,911,366...165,999,811
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PTPN22
protein tyrosine phosphatase non-receptor type 22
ISO
DNA: snp : cds : rs2476601
RGD
PMID:15934099
RGD:6484550
NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
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R3HDM2
R3H domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:22,558,645...22,714,250
Ensembl chr 5:22,549,010...22,719,054
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RASGEF1B
RasGEF domain family member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:135,896,022...136,595,051
Ensembl chr 8:136,568,711...136,595,049
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RBM47
RNA binding motif protein 47
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:31,508,133...31,690,757
Ensembl chr 8:31,508,148...31,690,409
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RERE
arginine-glutamic acid dipeptide repeats
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:68,954,766...69,258,855
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RHOBTB1
Rho related BTB domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:64,326,461...64,465,331
Ensembl chr14:64,326,461...64,465,281
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RNF103
ring finger protein 103
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:58,161,087...58,183,750
Ensembl chr 3:58,161,261...58,186,858
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SELP
selectin P
severity
ISO
protein:increased expression:plasma
RGD
PMID:21124648
RGD:6219006
NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,399,955
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SH2D2A
SH2 domain containing 2A
ISO
DNA:polymorphism:promoter
RGD
PMID:15129233
RGD:2298870
NCBI chr 4:93,282,383...93,293,214
Ensembl chr 4:93,282,413...93,293,205
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SH3BGRL2
SH3 domain binding glutamate rich protein like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:86,416,281...86,481,805
Ensembl chr 1:86,358,483...86,481,776
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SIK1
salt inducible kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:206,454,695...206,465,802
Ensembl chr13:206,454,718...206,465,807
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SIPA1L1
signal induced proliferation associated 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:94,789,794...95,168,728
Ensembl chr 7:95,022,924...95,167,107
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SLC11A1
solute carrier family 11 member 1
ISO
DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10857800 PMID:16597321
RGD:5684977
NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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SLC22A16
solute carrier family 22 member 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:76,423,386...76,468,267
Ensembl chr 1:76,423,355...76,467,575
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SLC26A2
solute carrier family 26 member 2
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:17393463
RGD:13208931
NCBI chr 2:150,996,868...151,027,483
Ensembl chr 2:150,996,686...151,022,148
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SLC2A3
solute carrier family 2 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:62,963,635...63,041,955
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SMAD3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449
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STAB1
stabilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:34,630,448...34,659,371
Ensembl chr13:34,636,083...34,659,219
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STAT3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
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STIM1
stromal interaction molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:6,066,612...6,270,090
Ensembl chr 9:6,066,617...6,270,575
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TCF7L2
transcription factor 7 like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:123,343,695...123,547,332
Ensembl chr14:123,343,412...123,546,417
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TFDP1
transcription factor Dp-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:78,755,472...78,778,312
Ensembl chr11:78,755,533...78,778,309
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TFPI
tissue factor pathway inhibitor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
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THBD
thrombomodulin
ISO
protein:increased expression:serum
RGD
PMID:15209962
RGD:5685023
NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099
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THBS1
thrombospondin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:131,728,781...131,746,098
Ensembl chr 1:131,728,784...131,746,115
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TNFAIP6
TNF alpha induced protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:862,013...881,352
Ensembl chr15:862,015...881,461
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TNFAIP8
TNF alpha induced protein 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:123,152,349...123,285,154
Ensembl chr 2:123,152,371...123,287,941
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TNIK
TRAF2 and NCK interacting kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:109,642,848...110,052,345
Ensembl chr13:109,643,895...110,052,236
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TREML1
triggering receptor expressed on myeloid cells like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:36,455,628...36,460,711
Ensembl chr 7:36,455,634...36,460,715
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TTLL5
tubulin tyrosine ligase like 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:98,822,338...99,090,076
Ensembl chr 7:98,823,871...99,130,915
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UBE3C
ubiquitin protein ligase E3C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:1,542,454...1,654,274
Ensembl chr18:1,542,163...1,653,982
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WASF3
WASP family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:4,261,121...4,366,258
Ensembl chr11:4,261,177...4,366,253
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WWOX
WW domain containing oxidoreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:8,910,209...9,871,048
Ensembl chr 6:8,910,138...9,871,053
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ZFAND3
zinc finger AN1-type containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:33,378,229...33,718,034
Ensembl chr 7:33,378,286...33,718,030
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ZFC3H1
zinc finger C3H1-type containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:35,617,257...35,671,191
Ensembl chr 5:35,617,266...35,671,149
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IDO1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:26914138
RGD:11529541
NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
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IL6
interleukin 6
ISO
OMIM
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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IL6R
interleukin 6 receptor
treatment
ISO
RGD
PMID:18358927
RGD:10402823
NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282
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MIF
macrophage migration inhibitory factor
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068
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