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.
G
AGER
advanced glycosylation end-product specific receptor
treatment
ISO
RGD
PMID:17374970
RGD:1625338
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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AQP3
aquaporin 3 (Gill blood group)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr 9:33,441,160...33,447,593
Ensembl chr 9:33,441,156...33,447,596
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BCL2
BCL2 apoptosis regulator
ISO
protein:increased expression:tongue:
RGD
PMID:12167434
RGD:8547871
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
G
CDKN1A
cyclin dependent kinase inhibitor 1A
disease_progression
IEP
RGD
PMID:11488071
RGD:8662423
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
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CDKN2A
cyclin dependent kinase inhibitor 2A
severity
ISO
DNA:point mutations, missense mutation:exon DNA:loss of heterozygosity protein:decreased expression:tongue
RGD
PMID:17091472 PMID:16527513 PMID:18804414
RGD:1600814 , RGD:1578522 , RGD:11252155
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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CDKN2B
cyclin dependent kinase inhibitor 2B
ISO
DNA:loss of heterozygosity
RGD
PMID:16527513
RGD:1578522
NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
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CRYAB
crystallin alpha B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19840781
NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue epithelium
RGD
PMID:14674993
RGD:2293780
NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
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HRAS
HRas proto-oncogene, GTPase
susceptibility
IMP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20043093 PMID:20043093
RGD:12738401
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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HSPB1
heat shock protein family B (small) member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19840781
NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,304,295
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IGF1
insulin like growth factor 1
IEP
protein:decreased expression:blood:
RGD
PMID:8493451
RGD:8548876
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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JUNB
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue epithelium
RGD
PMID:14674993
RGD:2293780
NCBI chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315
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KRT14
keratin 14
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
G
MIR222
microRNA 222
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19487542
NCBI chr X:45,747,015...45,747,124
Ensembl chr X:45,747,015...45,747,124
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MT1X
metallothionein 1X
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196
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OGG1
8-oxoguanine DNA glycosylase
IEP
protein:decreased expression:saliva
RGD
PMID:19789535
RGD:8657148
NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
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PTGS2
prostaglandin-endoperoxide synthase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248 PMID:22561872
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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SOD2
superoxide dismutase 2
IEP EXP
mRNA,protein:increased expression:tongue: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20618948 PMID:20618948
RGD:8547519
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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STAT3
signal transducer and activator of transcription 3
disease_progression
IDA IEP
RGD
PMID:17169602 PMID:22302289
RGD:8694287 , RGD:8694311
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
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TERC
telomerase RNA component
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:16051514
NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047 Ensembl chr 3:169,764,610...169,765,047
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TLR5
toll like receptor 5
IEP
protein:increased expression:tongue:
RGD
PMID:23287987
RGD:7814374
NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,248
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TNF
tumor necrosis factor
ISO IEP
mRNA,protein:increased expression:tongue: protein:increased expression:saliva
RGD
PMID:14747060 PMID:21397550
RGD:7401243 , RGD:7401244
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
G
TP53
tumor protein p53
IDA ISO
DNA:mutations:cds: protein:increased expression:tongue: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16543248 PMID:21903770 PMID:12167434 PMID:9485768
RGD:8547850 , RGD:8547871 , RGD:8547872
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
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TYMS
thymidylate synthetase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16280240
NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
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VEGFA
vascular endothelial growth factor A
disease_progression
IEP
RGD
PMID:15289890
RGD:7488946
NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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VEGFC
vascular endothelial growth factor C
disease_progression
IEP
RGD
PMID:15289890
RGD:7488946
NCBI chr 4:176,683,538...176,792,922
Ensembl chr 4:176,683,538...176,792,922
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WDPCP
WD repeat containing planar cell polarity effector
IAGP
ClinVar Annotator: match by term: Orstavik Lindemann Solberg syndrome ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome ClinVar Annotator: match by term: Congenital heart defects, hamartomas of tongue, and polysyndactyly
ClinVar OMIM
PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 More...
NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843
G
DDX3X
DEAD-box helicase 3 X-linked
ameliorates
ISO
RGD
PMID:25918862
RGD:151356506
NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472
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FGFR3
fibroblast growth factor receptor 3
severity
IEP
associated with human papillomavirus;protein:decreased expression:tumor cells
RGD
PMID:30061236
RGD:36947883
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
G
MIR155
microRNA 155
IEP
miRNA:decreased expression:tongue
RGD
PMID:30617160
RGD:21081517
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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MIR491
microRNA 491
disease_progression
IEP
mRNA:decreased expression:tongue (human)
RGD
PMID:25749387
RGD:152995520
NCBI chr 9:20,716,105...20,716,188
Ensembl chr 9:20,716,105...20,716,188
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RICTOR
RPTOR independent companion of MTOR complex 2
disease_progression
IEP
protein:increased expression:tongue (human)
RGD
PMID:25749387
RGD:152995520
NCBI chr 5:38,937,920...39,074,399
Ensembl chr 5:38,937,920...39,074,399
G
BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B
IEP
associated with oral squamous cell carcinoma; protein:increased expression: oral mucosa squamous cell, cervical lymph node (human)
RGD
PMID:20204288
RGD:27372889
NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
G
ADA
adenosine deaminase
IEP
protein:increased activity:saliva:
RGD
PMID:20379753
RGD:152995262
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
G
ADIPOQ
adiponectin, C1Q and collagen domain containing
disease_progression
IEP
protein:decreased expression:serum
RGD
PMID:23181352
RGD:8694469
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
G
BCL2
BCL2 apoptosis regulator
IEP
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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BIRC2
baculoviral IAP repeat containing 2
exacerbates
IEP
protein:increased expression:tongue (human)
RGD
PMID:18621506
RGD:153323319
NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
G
BRINP3
BMP/retinoic acid inducible neural specific 3
IEP
mRNA:decreased expression:tongue:
RGD
PMID:19787213
RGD:14398487
NCBI chr 1:190,097,658...190,477,864
Ensembl chr 1:190,097,658...190,478,404
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CAV2
caveolin 2
IEP
protein:increased expression:mucosa of tongue
RGD
PMID:20558341
RGD:8661771
NCBI chr 7:116,499,738...116,508,541
Ensembl chr 7:116,287,380...116,508,541
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CCND1
cyclin D1
IEP
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
G
CDKN1A
cyclin dependent kinase inhibitor 1A
disease_progression
IEP
RGD
PMID:12162767
RGD:8662376
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
G
CXCL8
C-X-C motif chemokine ligand 8
HEP
mRNA:increased expression:head, neck (human)
RGD
PMID:31452775
RGD:150520018
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
G
EGFR
epidermal growth factor receptor
treatment
ISO
RGD
PMID:19380367
RGD:8551769
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
G
ERBB3
erb-b2 receptor tyrosine kinase 3
disease_progression
IEP
RGD
PMID:19691460
RGD:126781771
NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
G
ERBB4
erb-b2 receptor tyrosine kinase 4
severity
IEP
RGD
PMID:19691460
RGD:126781771
NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
G
FANCB
FA complementation group B
IEP
RGD
PMID:17409780
RGD:11049143
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
G
FANCC
FA complementation group C
IEP
RGD
PMID:17409780
RGD:11049143
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
G
FANCF
FA complementation group F
IEP
mRNA:decreased expression:tongue:
RGD
PMID:17409780
RGD:11049143
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
G
FANCG
FA complementation group G
IEP
RGD
PMID:17409780
RGD:11049143
NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
G
FANCI
FA complementation group I
IEP
RGD
PMID:17409780
RGD:11049143
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
G
FANCL
FA complementation group L
IEP
RGD
PMID:17409780
RGD:11049143
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
G
FANCM
FA complementation group M
IEP
RGD
PMID:17409780
RGD:11049143
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
G
FOS
Fos proto-oncogene, AP-1 transcription factor subunit
IEP
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
G
FOSB
FosB proto-oncogene, AP-1 transcription factor subunit
IEP
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr19:45,467,996...45,475,179
Ensembl chr19:45,467,995...45,475,179
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FOSL1
FOS like 1, AP-1 transcription factor subunit
IEP
protein:decreased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr11:65,892,049...65,900,545
Ensembl chr11:65,892,049...65,900,573
G
FOSL2
FOS like 2, AP-1 transcription factor subunit
IEP
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 2:28,392,858...28,417,317
Ensembl chr 2:28,392,448...28,417,317
G
FUBP1
far upstream element binding protein 1
exacerbates
IEP
mRNA, protein:increased expression:tongue (human)
RGD
PMID:32339054
RGD:151361191
NCBI chr 1:77,944,055...77,979,501
Ensembl chr 1:77,944,055...77,979,110
G
GJA1
gap junction protein alpha 1
ISO
protein:decreased expression:epithelium
RGD
PMID:23568744
RGD:8662380
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
G
HGF
hepatocyte growth factor
IEP
protein:increased expression:tongue:
RGD
PMID:20848408
RGD:8548612
NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
G
IFNG
interferon gamma
disease_progression
ISO
protein:decreased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL10
interleukin 10
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL1RL1
interleukin 1 receptor like 1
disease_progression
IEP
RGD
PMID:25193287
RGD:39938972
NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037
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IL2
interleukin 2
ISO
protein:decreased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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IL33
interleukin 33
disease_progression
IEP
RGD
PMID:25193287
RGD:39938972
NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
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JAK3
Janus kinase 3
disease_progression
ISO
RGD
PMID:26860129
RGD:11531126
NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
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JUN
Jun proto-oncogene, AP-1 transcription factor subunit
IEP
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048
G
JUNB
JunB proto-oncogene, AP-1 transcription factor subunit
IEP
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315
G
JUND
JunD proto-oncogene, AP-1 transcription factor subunit
IEP
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr19:18,279,694...18,281,622
Ensembl chr19:18,279,694...18,281,622
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KDR
kinase insert domain receptor
treatment
ISO
RGD
PMID:19380367
RGD:8551769
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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MAP2K4
mitogen-activated protein kinase kinase 4
IEP
mRNA:increased expression:tongue squamous epithelium (human)
RGD
PMID:28319306
RGD:150429750
NCBI chr17:12,020,877...12,143,828
Ensembl chr17:12,020,829...12,143,830
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MET
MET proto-oncogene, receptor tyrosine kinase
IEP
protein:increased expression:tongue:
RGD
PMID:20848408
RGD:8548612
NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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MMP9
matrix metallopeptidase 9
IEP
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MTUS1
microtubule associated scaffold protein 1
disease_progression
IEP
RGD
PMID:22153618
RGD:25330347
NCBI chr 8:17,643,802...17,801,521
Ensembl chr 8:17,643,795...17,801,094
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SLC1A5
solute carrier family 1 member 5
disease_progression
IEP
RGD
PMID:24762957
RGD:151361157
NCBI chr19:46,774,883...46,788,594
Ensembl chr19:46,774,883...46,788,594
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SLC3A2
solute carrier family 3 member 2
disease_progression
IEP
RGD
PMID:24762957
RGD:151361157
NCBI chr11:62,856,109...62,888,860
Ensembl chr11:62,856,004...62,888,880
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SLC7A11
solute carrier family 7 member 11
severity
IEP
RGD
PMID:24762957
RGD:151361157
NCBI chr 4:138,164,097...138,312,671
Ensembl chr 4:138,164,097...138,242,349
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SLC7A5
solute carrier family 7 member 5
disease_progression
IEP
RGD
PMID:24762957
RGD:151361157
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,023...87,869,507
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SOX2
SRY-box transcription factor 2
disease_progression
IEP
RGD
PMID:21689966
RGD:8661665
NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
G
TP53
tumor protein p53
ISO
protein:increased expression:tongue:
RGD
PMID:20385474
RGD:8547851
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
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