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
ISO
protein:increased expression:esophagus:
RGD
PMID:17570215
RGD:8699511
NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
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Il13
interleukin 13
IMP
RGD
PMID:20543112
RGD:4145528
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il4ra
interleukin 4 receptor, alpha
susceptibility
ISO
associated with carcinoma, non-small-cell lung;DNA:SNP: :rs1801275(human)
RGD
PMID:20811626
RGD:5131286
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
associated with carcinoma, non-small-cell lung;
RGD
PMID:20811626
RGD:5131286
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Slc7a5
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
ISO
protein:increased expression:epithelium
RGD
PMID:28370814
RGD:151361286
NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
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Sod2
superoxide dismutase 2, mitochondrial
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11121210
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Tnf
tumor necrosis factor
susceptibility
ISO
associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human)
RGD
PMID:20811626
RGD:5131286
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Trpv1
transient receptor potential cation channel, subfamily V, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16091555
NCBI chr11:73,124,975...73,152,148
Ensembl chr11:73,125,118...73,152,068
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Ang
angiogenin, ribonuclease, RNase A family, 5
ISO
RGD
PMID:22331014
RGD:6771318
NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466
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Ankrd27
ankyrin repeat domain 27
ISO
DNA:SNPs:intron: (rs3815700, rs10410895) (human)
RGD
PMID:25407941
RGD:11100048
NCBI chr 7:35,285,652...35,338,662
Ensembl chr 7:35,285,669...35,338,651
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Ccl26
C-C motif chemokine ligand 26
treatment
ISO
protein:increased expression:esophagus (human)
RGD
PMID:18844613 PMID:24704289
RGD:11081156 , RGD:11081157
NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
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Ccr3
C-C motif chemokine receptor 3
IMP
RGD
PMID:1316818
RGD:6893390
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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Cd40lg
CD40 ligand
ISO
protein:decreased expression:plasma
RGD
PMID:21211656
RGD:5490306
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cyp2c38
cytochrome P450, family 2, subfamily c, polypeptide 38
treatment
ISO
DNA:polymorphisms::
RGD
PMID:26416193
RGD:11352743
NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
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Cyp2c66
cytochrome P450, family 2, subfamily c, polypeptide 66
treatment
ISO
DNA:polymorphisms::
RGD
PMID:26416193
RGD:11352743
NCBI chr19:39,102,342...39,175,200
Ensembl chr19:39,102,342...39,175,516
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Il5
interleukin 5
IMP
RGD
PMID:23161496
RGD:11354947
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Pecam1
platelet/endothelial cell adhesion molecule 1
ISO
protein:increased expression:esophagus (human)
RGD
PMID:22331014
RGD:6771318
NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454
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Tgfb1
transforming growth factor, beta 1
ISO
RGD
PMID:24486052
RGD:11073602
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tslp
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20208534
NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850
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Bmp4
bone morphogenetic protein 4
ISO
protein:increased expression:esophagus:
RGD
PMID:17570215
RGD:8699511
NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
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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 chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Cldn3
claudin 3
ISO
protein:altered expression:epithelial cell, esophagus:
RGD
PMID:21373849
RGD:11344880
NCBI chr 5:135,015,068...135,016,330
Ensembl chr 5:135,015,068...135,016,326
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Cldn4
claudin 4
ISO
protein:altered localization:esophagus epithelium, cytoplasm
RGD
PMID:16143882
RGD:2317602
NCBI chr 5:134,973,977...134,975,788
Ensembl chr 5:134,973,973...134,975,788
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18193101
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Egfr
epidermal growth factor receptor
ISO
mRNA, protein:increased expression:esophagus, basal cell
RGD
PMID:11966524
RGD:10395244
NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
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F11r
F11 receptor
treatment
ISO
RGD
PMID:19478094
RGD:7488941
NCBI chr 1:171,265,129...171,292,161
Ensembl chr 1:171,265,103...171,292,171
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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 chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il5
interleukin 5
ISO
associated with asthma; mRNA:increased expression:esophagus
RGD
PMID:18222984
RGD:2307110
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Mir223
microRNA 223
ISO
RNA:increased expression: esophagus
RGD
PMID:28757556
RGD:25824949
NCBI chr X:95,286,423...95,286,532
Ensembl chr X:95,286,423...95,286,532
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Mir29a
microRNA 29a
ISO
RGD
PMID:28757556
RGD:25824949
NCBI chr 6:31,039,595...31,039,682
Ensembl chr 6:31,039,595...31,039,682
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Psmb9
proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2)
ISO
protein:decreased expression:esophageal epithelium (rat)
RGD
PMID:23942904
RGD:9854630
NCBI chr17:34,401,006...34,406,347
Ensembl chr17:34,400,961...34,406,738
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Ptges
prostaglandin E synthase
ISO
protein:increased expression:esophagus
RGD
PMID:16210398
RGD:2300085
NCBI chr 2:30,779,483...30,793,309
Ensembl chr 2:30,779,483...30,819,875
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Tjp1
tight junction protein 1
ISO
RGD
PMID:19653339
RGD:2325133
NCBI chr 7:64,945,913...65,177,629
Ensembl chr 7:64,945,913...65,177,529
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Tnf
tumor necrosis factor
ISO
RGD
PMID:15942680
RGD:1580209
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
susceptibility
ISO
DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)
RGD
PMID:25910066
RGD:11055189
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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