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: Ulcer
Accession: DOID:9005175
browse the term
Definition: A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue.
Synonyms: exact_synonym: Ulcers
primary_id: MESH:D014456 ; RDO:0002667
For additional species annotation, visit the
Alliance of Genome Resources .
G
Ccr5
C-C motif chemokine receptor 5
ISO
associated with Herpes Genitalis
RGD
PMID:18008231
RGD:8551830
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
G
Ddit3
DNA-damage inducible transcript 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20668000
NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
G
Fgf2
fibroblast growth factor 2
IEP
protein:increased expression, alternative forms:mucosa of stomach
RGD
PMID:21600881
RGD:8655658
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
G
Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
associated with sickle cell anemia;
RGD
PMID:23590899
RGD:10450838
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
G
Hif1a
hypoxia inducible factor 1 subunit alpha
IEP
protein:increased expression:esophagus (rat)
RGD
PMID:12368217
RGD:632996
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
G
Itgb3
integrin subunit beta 3
susceptibility
ISO
associated with Behcet Syndrome; DNA:polymorphism: :
RGD
PMID:21813062
RGD:8693342
NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
G
Mmp14
matrix metallopeptidase 14
ISO
RGD
PMID:12452868
RGD:1582583
NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655
G
Mmp2
matrix metallopeptidase 2
IEP ISO
RGD
PMID:16934674 , PMID:12452868
RGD:1582595 , RGD:1582583
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
G
Mmp3
matrix metallopeptidase 3
ISO
associated with Melanoma
RGD
PMID:15750195
RGD:8693676
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
G
Ppif
peptidylprolyl isomerase F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20668000
NCBI chr16:1,979,191...1,985,912
Ensembl chr16:1,979,191...1,985,908
G
Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
ClinVar Annotator: match by OMIM:610446 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:16395392
NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
G
Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:19638336
RGD:2315843
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
G
Icam1
intercellular adhesion molecule 1
ISO
associated with Scleroderma, Systemic;protein:increased expression:blood
RGD
PMID:8099861
RGD:8547587
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
G
Itgb2
integrin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9653089
NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
G
Lama3
laminin subunit alpha 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12915477
NCBI chr18:3,704,866...3,941,215
Ensembl chr18:3,705,916...3,940,838
G
Mmp9
matrix metallopeptidase 9
susceptibility
ISO
associated with Scleroderma, Systemic in males;DNA:SNP:promoter:-1562C>T (rs3918242) (human)
RGD
PMID:21455563
RGD:8547865
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
G
Ngf
nerve growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24244623
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
G
Pdgfa
platelet derived growth factor subunit A
IEP
RGD
PMID:16383039
RGD:2292163
NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
G
Pdgfra
platelet derived growth factor receptor alpha
IEP
RGD
PMID:16383039
RGD:2292163
NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
G
Pepd
peptidase D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16470701
NCBI chr 1:90,820,670...91,285,128
G
Plcb3
phospholipase C beta 3
ISO
RGD
PMID:10669417
RGD:737745
NCBI chr 1:222,207,887...222,224,993
Ensembl chr 1:222,209,575...222,224,910
G
Il6
interleukin 6
ISO
associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte:
RGD
PMID:12714388
RGD:7829721
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
associated with Hypersensitivity;mRNA:decreased expression:eye
RGD
PMID:16251127
RGD:7364739
NCBI chr 1:214,725,482...214,756,653
G
Ngf
nerve growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24244623
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
G
Serpinf1
serpin family F member 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19553628
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
G
Tnf
tumor necrosis factor
ISO
associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte:
RGD
PMID:12714388
RGD:7829721
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Fgf2
fibroblast growth factor 2
IEP
RGD
PMID:23740668
RGD:8655548
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
G
Hif1a
hypoxia inducible factor 1 subunit alpha
IEP
mRNA, protein:increased expression:deep dorsal muscles (rat)
RGD
PMID:20223667
RGD:8694460
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
G
Il10
interleukin 10
IEP
mRNA:increased expression:skin
RGD
PMID:26177082
RGD:11049489
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
G
Kdr
kinase insert domain receptor
ISO
protein:increased expression:skin:
RGD
PMID:12692851
RGD:8551845
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
G
Vegfa
vascular endothelial growth factor A
ISO IEP
protein:increased expression:skin:
RGD
PMID:12692851 , PMID:23740668
RGD:8551845 , RGD:8655548
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:20836881
RGD:5686889
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
G
Ager
advanced glycosylation end product-specific receptor
ISO
associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood
RGD
PMID:21941211
RGD:6767555
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
G
Crp
C-reactive protein
disease_progression
ISO
protein:increased expression:blood:
RGD
PMID:22712631
RGD:6906887
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
G
Gja1
gap junction protein, alpha 1
ISO
protein:increased expression:dermis
RGD
PMID:22455314
RGD:7207269
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
G
Hspa1b
heat shock protein family A (Hsp70) member 1B
severity
ISO
DNA:polymorphism: :1538G>A (human)
RGD
PMID:19731315
RGD:8662463
NCBI chr20:4,877,638...4,880,112
Ensembl chr20:2,699,712...2,701,815
G
Igf1
insulin-like growth factor 1
ISO
protein:decreased expression:fibroblast of dermis,stratum basale of epidermis:
RGD
PMID:10727985
RGD:8549356
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
G
Il15
interleukin 15
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:dermis, endothelial cell
RGD
PMID:17014667
RGD:2313575
NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
G
Mbl2
mannose binding lectin 2
ISO
protein:increased expression:serum:
RGD
PMID:19997692
RGD:8694068
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
G
Mmp9
matrix metallopeptidase 9
severity
ISO
RGD
PMID:22688339
RGD:8547813
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
G
Plat
plasminogen activator, tissue type
ISO
RGD
PMID:17275886
RGD:2311669
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
G
Ptx3
pentraxin 3
ISO
protein:decreased expression:plasma (human)
RGD
PMID:30767386
RGD:38501100
NCBI chr 2:158,097,843...158,103,653
Ensembl chr 2:158,097,843...158,103,653
G
Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:SNPs,haplotype: :rs4986790,rs4986791,rs10759931,rs1927911(human);
RGD
PMID:23936790
RGD:7777174
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
G
Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22387998
NCBI chr 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
G
Aco1
aconitase 1
IDA
protein:increased activity:duodenal mucosa
RGD
PMID:19342511
RGD:11541091
NCBI chr 5:56,425,076...56,481,218
Ensembl chr 5:56,425,024...56,481,218
G
Cftr
CF transmembrane conductance regulator
IDA
RGD
PMID:15905414
RGD:1599596
NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
G
Egr1
early growth response 1
ISO
RGD
PMID:24385009
RGD:8694318
NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
G
Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12481160 PMID:17045617
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
G
Pla2g4a
phospholipase A2 group IVA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18451993
NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
G
Psca
prostate stem cell antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22387998
NCBI chr 7:116,090,189...116,091,955
Ensembl chr 7:116,090,189...116,091,955
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12481160
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
G
Slc11a2
solute carrier family 11 member 2
IEP
mRNA, protein:increased expression:duodenal mucosa
RGD
PMID:19342511
RGD:11541091
NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
G
Stat3
signal transducer and activator of transcription 3
IMP
RGD
PMID:24385009
RGD:8694318
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
G
Tfrc
transferrin receptor
IEP
protein:increased expression:duodenal mucosa
RGD
PMID:19342511
RGD:11541091
NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
G
Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12868675
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
G
Vegfa
vascular endothelial growth factor A
IEP
associated with Candidiasis;protein:decreased expression:Duodenum:
RGD
PMID:18622701
RGD:7483560
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
associated with Diabetes Mellitus
RGD
PMID:19509015
RGD:2311355
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
G
Adm
adrenomedullin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9845272
NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
G
Agt
angiotensinogen
treatment
IDA
RGD
PMID:24231511
RGD:11039418
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
G
Angpt1
angiopoietin 1
IEP
protein:increased expression:stomach
RGD
PMID:12768384
RGD:1601496
NCBI chr 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206
G
Angpt2
angiopoietin 2
IEP
protein:increased expression:stomach (rat)
RGD
PMID:12768384
RGD:1601496
NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
G
Bad
BCL2-associated agonist of cell death
treatment
IDA
RGD
PMID:24378970
RGD:10053695
NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
G
Bcl2
BCL2, apoptosis regulator
treatment
IDA
RGD
PMID:24378970
RGD:10053695
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
G
Bcl2l1
Bcl2-like 1
treatment
IDA
RGD
PMID:24378970
RGD:10053695
NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
G
Casp3
caspase 3
treatment
IEP
RGD
PMID:29339218
RGD:13792597
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
G
Cat
catalase
IEP ISO
protein:increased expression:stomach CTD Direct Evidence: therapeutic
CTD
PMID:1887894 , PMID:17895592
RGD:5130860
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
G
Cblif
cobalamin binding intrinsic factor
ISO
associated with Polycythemia; mRNA:decreased expression:gastric mucosa:
RGD
PMID:26485402
RGD:11049581
NCBI chr 1:228,118,048...228,132,296
Ensembl chr 1:228,118,048...228,132,404
G
Cck
cholecystokinin
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9872509 PMID:10422768 PMID:10458643 PMID:11025360 PMID:11787760 PMID:15024038
NCBI chr 8:130,120,525...130,127,515
Ensembl chr 8:130,120,523...130,127,392
G
Cftr
CF transmembrane conductance regulator
treatment
IDA
RGD
PMID:23596793
RGD:11567229
NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
G
Col18a1
collagen type XVIII alpha 1 chain
IEP
Protein:decreased expression:serum
RGD
PMID:11353854
RGD:1600910
NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
G
Egf
epidermal growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9324159 PMID:9479624
NCBI chr 2:68,820,616...68,895,537
G
Epo
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20723003
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
G
F13a1
coagulation factor XIII A1 chain
IEP
RGD
PMID:11435721
RGD:708325
NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
G
Fas
Fas cell surface death receptor
treatment
IEP
RGD
PMID:29339218
RGD:13792597
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
G
Faslg
Fas ligand
treatment
IEP
RGD
PMID:29339218
RGD:13792597
NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
G
Fgf2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:9127818
RGD:8655642
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
G
Foxo4
forkhead box O4
IEP
mRNA,protein:increased expression:gastric mucosa:
RGD
PMID:22735908
RGD:10402364
NCBI chr X:71,155,284...71,162,158
Ensembl chr X:71,155,601...71,162,158
G
Ghrl
ghrelin and obestatin prepropeptide
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15177919 PMID:16259727
NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
G
Hrh3
histamine receptor H3
IDA
RGD
PMID:15680274
RGD:1626428
NCBI chr 3:175,474,310...175,479,395
Ensembl chr 3:175,473,078...175,479,395
G
Iapp
islet amyloid polypeptide
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9286623
NCBI chr 4:176,509,863...176,517,903
Ensembl chr 4:176,510,696...176,516,083
G
Idua
alpha-L-iduronidase
IEP
RGD
PMID:3713687
RGD:12910841
NCBI chr14:2,041,828...2,056,762
Ensembl chr14:2,042,411...2,056,762
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11376495
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Il23a
interleukin 23 subunit alpha
treatment
ISO
RGD
PMID:23874957
RGD:39458037
NCBI chr 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723
G
Il25
interleukin 25
treatment
IEP
RGD
PMID:26054198
RGD:40902976
NCBI chr15:33,594,852...33,599,692
Ensembl chr15:33,596,301...33,599,685
G
Lep
leptin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10422768 PMID:11025360 PMID:11787760 PMID:15024038 PMID:16015682 PMID:18181030
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
G
Mapk1
mitogen activated protein kinase 1
IDA
RGD
PMID:25518106
RGD:13800896
NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
G
Mapk3
mitogen activated protein kinase 3
IDA
RGD
PMID:25518106
RGD:13800896
NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
G
Mmp13
matrix metallopeptidase 13
IEP
mRNA:increased expression:stomach
RGD
PMID:15375341
RGD:10043177
NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
G
Mmp2
matrix metallopeptidase 2
IEP
mRNA:increased expression:stomach
RGD
PMID:15375341
RGD:10043177
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
G
Mmp3
matrix metallopeptidase 3
IEP
mRNA:increased expression:stomach
RGD
PMID:15375341
RGD:10043177
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
G
Mmp9
matrix metallopeptidase 9
IEP ISO
protein:increased expression:stomach secretion CTD Direct Evidence: marker/mechanism
CTD
PMID:17603938 , PMID:17603938
RGD:1642033
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
treatment
IEP IDA
mRNA, protein:decreased expression:stomach
RGD
PMID:11956390 , PMID:16240224
RGD:2324968 , RGD:7364759
NCBI chr 1:214,725,482...214,756,653
G
Muc6
mucin 6, oligomeric mucus/gel-forming
treatment
IDA
RGD
PMID:16240224
RGD:7364759
NCBI chr 1:214,608,453...214,630,524
Ensembl chr 1:214,608,704...214,629,938
G
Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12481160 PMID:15138204 PMID:19066340
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
G
Nos3
nitric oxide synthase 3
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19066340 , PMID:29095895
RGD:13446410
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
G
Nrg1
neuregulin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16357062
NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
G
Oxt
oxytocin/neurophysin I prepropeptide
IDA
RGD
PMID:11764003
RGD:2304192
NCBI chr 3:123,106,694...123,107,534
Ensembl chr 3:123,106,694...123,107,534
G
Oxtr
oxytocin receptor
IMP
RGD
PMID:11764003
RGD:2304192
NCBI chr 4:144,399,326...144,417,598
Ensembl chr 4:144,403,358...144,416,116
G
Ptger1
prostaglandin E receptor 1
treatment
IMP ISO
RGD
PMID:10807413 , PMID:10807413
RGD:10043357 , RGD:10043357
NCBI chr19:24,799,422...24,803,373
Ensembl chr19:24,800,072...24,803,373
G
Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10594344 PMID:19066340
NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
G
Ptgs2
prostaglandin-endoperoxide synthase 2
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9024292 PMID:10594344 PMID:11376495 PMID:12481160 PMID:19066340 , PMID:17673547 , PMID:17673547
RGD:2300260 , RGD:2300260
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
G
Sst
somatostatin
IEP
RGD
PMID:17990461
RGD:2303186
NCBI chr11:80,358,172...80,359,449
Ensembl chr11:80,358,211...80,359,444
G
Tek
TEK receptor tyrosine kinase
IEP
protein:increased expression:stomach
RGD
PMID:12768384
RGD:1601496
NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
G
Tff1
trefoil factor 1
IEP
mRNA, protein:increased expression:stomach mucosa
RGD
PMID:11350545
RGD:2292012
NCBI chr20:9,892,124...9,895,984
Ensembl chr20:9,892,124...9,895,984
G
Timp1
TIMP metallopeptidase inhibitor 1
IEP
mRNA:increased expression:stomach
RGD
PMID:15375341
RGD:10043177
NCBI chr X:1,364,771...1,369,451
Ensembl chr X:1,364,786...1,369,384
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15138204
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11353854
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
G
Vgf
VGF nerve growth factor inducible
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20805684
NCBI chr12:22,677,302...22,680,630
Ensembl chr12:22,677,607...22,680,630
G
Edn1
endothelin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16391412
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
G
Hspd1
heat shock protein family D (Hsp60) member 1
ISO
associated with Behcet Syndrome;protein:increased expression:muccal mucosa:
RGD
PMID:20580281
RGD:12910477
NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
G
Lep
leptin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16391412
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
G
Stat4
signal transducer and activator of transcription 4
ISO
associated with Lupus Erythematosus, Systemic;DNA:SNP:intron:c.274-23582A>C (rs7574865) (human)
RGD
PMID:21719445
RGD:5147916
NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum and acne ClinVar Annotator: match by OMIM:604416
OMIM ClinVar CTD
PMID:11971877 PMID:14595024 PMID:15580218 PMID:16527883 PMID:19673875 PMID:19934105 PMID:20506269 PMID:22161697 PMID:22513199 PMID:25741868 PMID:25845478 PMID:26025129 PMID:27106250 PMID:27577878 PMID:28492532 PMID:30290665 PMID:31443670
NCBI chr 8:60,760,040...60,799,364
Ensembl chr 8:60,760,078...60,799,361
G
Bmp4
bone morphogenetic protein 4
IEP
protein:increased expression:esophagus:
RGD
PMID:17570215
RGD:8699511
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
G
Ccl5
C-C motif chemokine ligand 5
IEP
associated with Asthma;mRNA:increased expression:esophagus
RGD
PMID:18222984
RGD:2307110
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
G
Cldn3
claudin 3
IEP
protein:altered expression:epithelial cell, esophagus:
RGD
PMID:21373849
RGD:11344880
NCBI chr12:21,831,341...21,832,813
Ensembl chr12:21,831,342...21,832,813
G
Cldn4
claudin 4
IEP
protein:altered localization:esophagus epithelium, cytoplasm
RGD
PMID:16143882
RGD:2317602
NCBI chr12:24,761,210...24,763,008
Ensembl chr12:24,761,210...24,763,005
G
Egfr
epidermal growth factor receptor
IEP
mRNA, protein:increased expression:esophagus, basal cell
RGD
PMID:11966524
RGD:10395244
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
G
F11r
F11 receptor
treatment
IEP
RGD
PMID:19478094
RGD:7488941
NCBI chr13:89,826,272...89,850,151
Ensembl chr13:89,826,254...89,850,612
G
Il13
interleukin 13
IEP
associated with asthma; mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid
RGD
PMID:18222984
RGD:2307110
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
G
Il5
interleukin 5
IEP
associated with asthma; mRNA:increased expression:esophagus
RGD
PMID:18222984
RGD:2307110
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
G
Mir223
microRNA 223
IEP
RNA:increased expression: esophagus
RGD
PMID:28757556
RGD:25824949
NCBI chr X:65,367,812...65,367,921
Ensembl chr X:65,367,812...65,367,921
G
Mir29a
microRNA 29a
IEP
RGD
PMID:28757556
RGD:25824949
NCBI chr 4:58,343,931...58,344,018
G
Psmb9
proteasome 20S subunit beta 9
IEP
protein:decreased expression:esophageal epithelium (rat)
RGD
PMID:23942904
RGD:9854630
NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
G
Ptges
prostaglandin E synthase
IEP
protein:increased expression:esophagus
RGD
PMID:16210398
RGD:2300085
NCBI chr 3:9,727,408...9,738,752
Ensembl chr 3:9,727,408...9,738,752
G
Tjp1
tight junction protein 1
IEP
RGD
PMID:19653339
RGD:2325133
NCBI chr 1:126,146,489...126,515,359
Ensembl chr 1:126,146,489...126,227,469
G
Tnf
tumor necrosis factor
IDA
RGD
PMID:15942680
RGD:1580209
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)
RGD
PMID:25910066
RGD:11055189
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
G
Cnr1
cannabinoid receptor 1
IDA
RGD
PMID:19827302
RGD:2314640
NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
G
Edn1
endothelin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16384872
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
G
Gast
gastrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10700044
NCBI chr10:88,245,532...88,248,485
Ensembl chr10:88,245,532...88,248,484
G
Gsr
glutathione-disulfide reductase
treatment
IEP
RGD
PMID:24480520
RGD:10401900
NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
G
Hmox1
heme oxygenase 1
IMP
RGD
PMID:20610858
RGD:4145283
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
G
Hpgd
15-hydroxyprostaglandin dehydrogenase
treatment
IEP
RGD
PMID:23884819
RGD:11667098
NCBI chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19448967
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Il33
interleukin 33
susceptibility
ISO
associated with Helicobacter Infections;DNA:SNP: : rs1929992(human)
RGD
PMID:31491552
RGD:39938849
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
associated with Helicobacter Infections;DNA:polymorphisms:cds:HLA-DRB1*07, HLA-DRB1*17 (human)
RGD
PMID:20405713
RGD:5147609
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
G
Mefv
MEFV innate immuity regulator, pyrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
G
Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:skin
RGD
PMID:21658319
RGD:8657060
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:skin
RGD
PMID:21658319
RGD:8657060
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
G
Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
G
Nod2
nucleotide-binding oligomerization domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
G
Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 8:60,760,040...60,799,364
Ensembl chr 8:60,760,078...60,799,361
G
Esr1
estrogen receptor 1
no_association
ISO
RGD
PMID:16153823
RGD:1626508
NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
G
Esr2
estrogen receptor 2
ISO
DNA:polymorphism:intron:(CA) dinucleotide repeat (human) DNA:SNPs:promoter, exon
RGD
PMID:16153823 , PMID:18070128
RGD:1626508 , RGD:8553061
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
G
Hfe
homeostatic iron regulator
susceptibility onset
ISO
associated with Chronic Venous Disease;DNA:missense mutation:cds:p.C282Y (human) associated with Chronic Venous Disease;DNA:missense mutation:cds:p.H63D (human)
RGD
PMID:16102632 , PMID:16678024
RGD:1582685 , RGD:8694379
NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
G
Lepr
leptin receptor
ISO
mRNA:decreased expression:skin
RGD
PMID:22773832
RGD:10412021
NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
G
Mbl2
mannose binding lectin 2
ISO
protein:decreased expression:serum:
RGD
PMID:19997692
RGD:8694068
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
G
Mir21
microRNA 21
ISO
miRNA:increased expression:skin:
RGD
PMID:22773832
RGD:10412021
NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
G
Alb
albumin
ISO
protein:decreased expression:serum
RGD
PMID:908508
RGD:2325683
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
G
Egf
epidermal growth factor
ISO
protein:increased expression:saliva
RGD
PMID:10811321
RGD:2317668
NCBI chr 2:68,820,616...68,895,537
G
Igf1r
insulin-like growth factor 1 receptor
ISO
mRNA and protein: increased expression::poor prognosis for high expression
RGD
PMID:15867218
RGD:7242847
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all