RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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BMP4
bone morphogenetic protein 4
IEP
protein:increased expression:esophagus:
RGD
PMID:17570215
RGD:8699511
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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IL13
interleukin 13
ISO
RGD
PMID:20543112
RGD:4145528
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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IL4R
interleukin 4 receptor
susceptibility
IAGP
associated with carcinoma, non-small-cell lung;DNA:SNP: :rs1801275(human)
RGD
PMID:20811626
RGD:5131286
NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778
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PGA5
pepsinogen A5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12928072
NCBI chr11:61,241,175...61,251,444
Ensembl chr11:61,241,175...61,251,444
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PTGS2
prostaglandin-endoperoxide synthase 2
IAGP
associated with carcinoma, non-small-cell lung;
RGD
PMID:20811626
RGD:5131286
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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SLC7A5
solute carrier family 7 member 5
IEP
protein:increased expression:epithelium
RGD
PMID:28370814
RGD:151361286
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507
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SOD2
superoxide dismutase 2
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:11121210
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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TNF
tumor necrosis factor
susceptibility
IAGP
associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human)
RGD
PMID:20811626
RGD:5131286
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TRPV1
transient receptor potential cation channel subfamily V member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16091555
NCBI chr17:3,565,446...3,609,411
Ensembl chr17:3,565,444...3,609,411
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ANG
angiogenin
IEP
RGD
PMID:22331014
RGD:6771318
NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
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ANKRD27
ankyrin repeat domain 27
IAGP
DNA:SNPs:intron: (rs3815700, rs10410895) (human)
RGD
PMID:25407941
RGD:11100048
NCBI chr19:32,597,006...32,675,180
Ensembl chr19:32,597,006...32,676,597
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CAPN14
calpain 14
IAGP EXP IEP
DNA:snps:multiple (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:esophagus
CTD RGD
PMID:25017104 PMID:25407941 PMID:25017104
RGD:11100048 , RGD:11100049
NCBI chr 2:31,173,056...31,233,957
Ensembl chr 2:31,173,056...31,233,858
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CCL26
C-C motif chemokine ligand 26
treatment
IDA IEP
protein:increased expression:esophagus (human)
RGD
PMID:18844613 PMID:24704289
RGD:11081156 , RGD:11081157
NCBI chr 7:75,769,524...75,791,597
Ensembl chr 7:75,769,533...75,789,896
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CCR3
C-C motif chemokine receptor 3
ISO
RGD
PMID:1316818
RGD:6893390
NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
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CD40LG
CD40 ligand
IEP
protein:decreased expression:plasma
RGD
PMID:21211656
RGD:5490306
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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CYP2C19
cytochrome P450 family 2 subfamily C member 19
treatment
IAGP
DNA:polymorphisms::
RGD
PMID:26416193
RGD:11352743
NCBI chr10:94,762,681...94,855,547
Ensembl chr10:94,762,681...94,855,547
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IL5
interleukin 5
ISO
RGD
PMID:23161496
RGD:11354947
NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838
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PECAM1
platelet and endothelial cell adhesion molecule 1
IEP
protein:increased expression:esophagus (human)
RGD
PMID:22331014
RGD:6771318
NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
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TGFB1
transforming growth factor beta 1
IDA
RGD
PMID:24486052
RGD:11073602
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TSLP
thymic stromal lymphopoietin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20208534
NCBI chr 5:111,070,062...111,078,026
Ensembl chr 5:111,070,062...111,078,026
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BMP4
bone morphogenetic protein 4
ISO
protein:increased expression:esophagus:
RGD
PMID:17570215
RGD:8699511
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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CCL5
C-C motif chemokine ligand 5
ISO
associated with Asthma;mRNA:increased expression:esophagus
RGD
PMID:18222984
RGD:2307110
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CLDN3
claudin 3
ISO
protein:altered expression:epithelial cell, esophagus:
RGD
PMID:21373849
RGD:11344880
NCBI chr 7:73,768,997...73,770,270
Ensembl chr 7:73,768,997...73,770,270
G
CLDN4
claudin 4
ISO
protein:altered localization:esophagus epithelium, cytoplasm
RGD
PMID:16143882
RGD:2317602
NCBI chr 7:73,830,996...73,832,690
Ensembl chr 7:73,799,542...73,832,690
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CXCL8
C-X-C motif chemokine ligand 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18193101
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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EGFR
epidermal growth factor receptor
ISO
mRNA, protein:increased expression:esophagus, basal cell
RGD
PMID:11966524
RGD:10395244
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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F11R
F11 receptor
treatment
ISO
RGD
PMID:19478094
RGD:7488941
NCBI chr 1:160,995,211...161,021,152
Ensembl chr 1:160,995,211...161,021,175
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IL13
interleukin 13
ISO
associated with asthma; mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid
RGD
PMID:18222984
RGD:2307110
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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IL5
interleukin 5
ISO
associated with asthma; mRNA:increased expression:esophagus
RGD
PMID:18222984
RGD:2307110
NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838
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MIR223
microRNA 223
ISO
RNA:increased expression: esophagus
RGD
PMID:28757556
RGD:25824949
NCBI chr X:66,018,870...66,018,979
Ensembl chr X:66,018,870...66,018,979
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MIR29A
microRNA 29a
ISO
RGD
PMID:28757556
RGD:25824949
NCBI chr 7:130,876,747...130,876,810
Ensembl chr 7:130,876,747...130,876,810
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PSMB9
proteasome 20S subunit beta 9
ISO
protein:decreased expression:esophageal epithelium (rat)
RGD
PMID:23942904
RGD:9854630
NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,860,734
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PTGES
prostaglandin E synthase
ISO
protein:increased expression:esophagus
RGD
PMID:16210398
RGD:2300085
NCBI chr 9:129,738,349...129,753,042
Ensembl chr 9:129,738,331...129,753,042
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TJP1
tight junction protein 1
ISO
RGD
PMID:19653339
RGD:2325133
NCBI chr15:29,699,367...29,969,049
Ensembl chr15:29,699,367...29,968,915
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TNF
tumor necrosis factor
ISO
RGD
PMID:15942680
RGD:1580209
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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VDR
vitamin D receptor
susceptibility
IAGP
DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)
RGD
PMID:25910066
RGD:11055189
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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