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 chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637
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IL13
interleukin 13
ISO
RGD
PMID:20543112
RGD:4145528
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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IL4R
interleukin 4 receptor
susceptibility
ISO
associated with carcinoma, non-small-cell lung;DNA:SNP: :rs1801275(human)
RGD
PMID:20811626
RGD:5131286
NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
associated with carcinoma, non-small-cell lung;
RGD
PMID:20811626
RGD:5131286
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
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SLC7A5
solute carrier family 7 member 5
ISO
protein:increased expression:epithelium
RGD
PMID:28370814
RGD:151361286
NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285
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SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11121210
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
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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 chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
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TRPV1
transient receptor potential cation channel subfamily V member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16091555
NCBI chr12:49,676,536...49,709,634
Ensembl chr12:49,677,291...49,713,977
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ANG
angiogenin
ISO
RGD
PMID:22331014
RGD:6771318
NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138
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ANKRD27
ankyrin repeat domain 27
ISO
DNA:SNPs:intron: (rs3815700, rs10410895) (human)
RGD
PMID:25407941
RGD:11100048
NCBI chr 6:42,501,167...42,559,926
Ensembl chr 6:42,501,165...42,559,912
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CAPN14
calpain 14
ISO
mRNA:increased expression:esophagus CTD Direct Evidence: marker/mechanism DNA:snps:multiple (human)
RGD CTD
PMID:25017104 PMID:25407941
RGD:11100048 RGD:11100049
NCBI chr 3:108,152,053...108,191,391
Ensembl chr 3:108,152,047...108,190,047
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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 3:10,381,306...10,385,677
Ensembl chr 3:10,381,306...10,385,677
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CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:1316818
RGD:6893390
NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,286,467
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CD40LG
CD40 ligand
ISO
protein:decreased expression:plasma
RGD
PMID:21211656
RGD:5490306
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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CYP2C49
cytochrome P450 2C49
treatment
ISO
DNA:polymorphisms::
RGD
PMID:26416193
RGD:11352743
NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455
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IL5
interleukin 5
ISO
RGD
PMID:23161496
RGD:11354947
NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
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PECAM1
platelet and endothelial cell adhesion molecule 1
ISO
protein:increased expression:esophagus (human)
RGD
PMID:22331014
RGD:6771318
NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293
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TGFB1
transforming growth factor beta 1
ISO
RGD
PMID:24486052
RGD:11073602
NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
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TSLP
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20208534
NCBI chr 2:115,832,152...115,837,572
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BMP4
bone morphogenetic protein 4
ISO
protein:increased expression:esophagus:
RGD
PMID:17570215
RGD:8699511
NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637
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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 chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
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CLDN3
claudin 3
ISO
protein:altered expression:epithelial cell, esophagus:
RGD
PMID:21373849
RGD:11344880
NCBI chr 3:11,019,073...11,020,102
Ensembl chr 3:11,019,073...11,020,102
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CLDN4
claudin 4
ISO
protein:altered localization:esophagus epithelium, cytoplasm
RGD
PMID:16143882
RGD:2317602
NCBI chr 3:11,039,711...11,053,930
Ensembl chr 3:11,039,706...11,053,925
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CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18193101
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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EGFR
epidermal growth factor receptor
ISO
mRNA, protein:increased expression:esophagus, basal cell
RGD
PMID:11966524
RGD:10395244
NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
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F11R
F11 receptor
treatment
ISO
RGD
PMID:19478094
RGD:7488941
NCBI chr 4:89,425,101...89,447,889
Ensembl chr 4:89,425,018...89,449,599
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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 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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IL5
interleukin 5
ISO
associated with asthma; mRNA:increased expression:esophagus
RGD
PMID:18222984
RGD:2307110
NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
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MIR29A
microRNA mir-29a
ISO
RGD
PMID:28757556
RGD:25824949
NCBI chr18:18,040,032...18,040,117
Ensembl chr18:18,040,032...18,040,118
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PSMB9
proteasome 20S subunit beta 9
ISO
protein:decreased expression:esophageal epithelium (rat)
RGD
PMID:23942904
RGD:9854630
NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,072,323...25,078,322
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PTGES
prostaglandin E synthase
ISO
protein:increased expression:esophagus
RGD
PMID:16210398
RGD:2300085
NCBI chr 1:269,911,785...269,924,481
Ensembl chr 1:269,911,789...269,924,462
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TJP1
tight junction protein 1
ISO
RGD
PMID:19653339
RGD:2325133
NCBI chr 1:144,930,387...145,195,857
Ensembl chr 1:144,930,370...145,195,836
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TNF
tumor necrosis factor
ISO
RGD
PMID:15942680
RGD:1580209
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
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VDR
vitamin D receptor
susceptibility
ISO
DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)
RGD
PMID:25910066
RGD:11055189
NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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