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
xref: MESH:D014456 ; MONDO:0043839
G
Ccr5
C-C motif chemokine receptor 5
ISO
associated with Herpes Genitalis
RGD
PMID:18008231
RGD:8551830
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Ddit3
DNA-damage inducible transcript 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20668000
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
G
Fgf2
fibroblast growth factor 2
IEP
protein:increased expression, alternative forms:mucosa of stomach
RGD
PMID:21600881
RGD:8655658
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
G
Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
associated with sickle cell anemia;
RGD
PMID:23590899
RGD:10450838
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Hif1a
hypoxia inducible factor 1 subunit alpha
IEP
protein:increased expression:esophagus (rat)
RGD
PMID:12368217
RGD:632996
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
G
Itgb3
integrin subunit beta 3
susceptibility
ISO
associated with Behcet Syndrome; DNA:polymorphism: :
RGD
PMID:21813062
RGD:8693342
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
G
Mmp14
matrix metallopeptidase 14
ISO
RGD
PMID:12452868
RGD:1582583
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
G
Mmp2
matrix metallopeptidase 2
IEP ISO
RGD
PMID:16934674 PMID:12452868
RGD:1582595 , RGD:1582583
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp3
matrix metallopeptidase 3
ISO
associated with Melanoma
RGD
PMID:15750195
RGD:8693676
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
G
Ppif
peptidylprolyl isomerase F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20668000
NCBI chr16:1,257,197...1,263,919
Ensembl chr16:1,257,106...1,263,913
G
Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
ClinVar Annotator: match by term: Buruli ulcer, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:16395392
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
G
Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:19638336
RGD:2315843
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
G
Icam1
intercellular adhesion molecule 1
ISO
associated with Scleroderma, Systemic;protein:increased expression:blood
RGD
PMID:8099861
RGD:8547587
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Itgb2
integrin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9653089
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
G
Lama3
laminin subunit alpha 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12915477
NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Ngf
nerve growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24244623
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
G
Pdgfa
platelet derived growth factor subunit A
IEP
RGD
PMID:16383039
RGD:2292163
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
G
Pdgfra
platelet derived growth factor receptor alpha
IEP
RGD
PMID:16383039
RGD:2292163
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
G
Pepd
peptidase D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16470701
NCBI chr 1:87,536,650...87,681,233
Ensembl chr 1:87,536,609...87,681,231
G
Plcb3
phospholipase C beta 3
ISO
RGD
PMID:10669417
RGD:737745
NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228
G
Il6
interleukin 6
ISO
associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte:
RGD
PMID:12714388
RGD:7829721
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
associated with Hypersensitivity;mRNA:decreased expression:eye
RGD
PMID:16251127
RGD:7364739
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
G
Ngf
nerve growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24244623
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
G
Serpinf1
serpin family F member 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19553628
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
G
Tnf
tumor necrosis factor
ISO
associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte:
RGD
PMID:12714388
RGD:7829721
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Fgf2
fibroblast growth factor 2
IEP
RGD
PMID:23740668
RGD:8655548
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
G
Hif1a
hypoxia inducible factor 1 subunit alpha
IEP
mRNA, protein:increased expression:deep dorsal muscles (rat)
RGD
PMID:20223667
RGD:8694460
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
G
Il10
interleukin 10
IEP
mRNA:increased expression:skin
RGD
PMID:26177082
RGD:11049489
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Kdr
kinase insert domain receptor
ISO
protein:increased expression:skin:
RGD
PMID:12692851
RGD:8551845
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Vegfa
vascular endothelial growth factor A
ISO IEP
protein:increased expression:skin:
RGD
PMID:12692851 PMID:23740668
RGD:8551845 , RGD:8655548
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:20836881
RGD:5686889
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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 chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
G
Crp
C-reactive protein
disease_progression
ISO
protein:increased expression:blood:
RGD
PMID:22712631
RGD:6906887
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
Gja1
gap junction protein, alpha 1
ISO
protein:increased expression:dermis
RGD
PMID:22455314
RGD:7207269
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
G
H19
H19 imprinted maternally expressed transcript
ameliorates
ISO
RNA:increased expression:foot (human)
RGD
PMID:33174326 PMID:33174326
RGD:156451663 , RGD:156451663
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
G
Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
mRNA,protein:decreased expression:blood serum, foot (human)
RGD
PMID:34293021
RGD:155260332
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
G
Hspa1b
heat shock protein family A (Hsp70) member 1B
severity
ISO
DNA:polymorphism: :1538G>A (human)
RGD
PMID:19731315
RGD:8662463
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
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 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Il15
interleukin 15
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:dermis, endothelial cell
RGD
PMID:17014667
RGD:2313575
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
G
Itgam
integrin subunit alpha M
ISO
protein:increased expression:pes (human)
RGD
PMID:37087778
RGD:329853756
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
G
Mbl2
mannose binding lectin 2
ISO
protein:increased expression:serum:
RGD
PMID:19997692
RGD:8694068
NCBI chr 1:228,016,439...228,024,736
G
Mir17
microRNA 17
ISO
RGD
PMID:36333728
RGD:329349308
NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
G
Mir210
microRNA 210
ISO
miRNA:increased expression:blood serum, foot (human)
RGD
PMID:34293021
RGD:155260332
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
G
Mmp9
matrix metallopeptidase 9
severity
ISO
RGD
PMID:22688339
RGD:8547813
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Notch1
notch receptor 1
ISO
protein:increased expression:skin, epidermis:
RGD
PMID:30886104
RGD:155646129
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
G
Plat
plasminogen activator, tissue type
ISO
RGD
PMID:17275886
RGD:2311669
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
G
Ptx3
pentraxin 3
ISO
protein:decreased expression:plasma (human)
RGD
PMID:30767386
RGD:38501100
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
G
Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:SNPs,haplotype: :rs4986790,rs4986791,rs10759931,rs1927911(human);
RGD
PMID:23936790
RGD:7777174
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22387998
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
G
Aco1
aconitase 1
IDA
protein:increased activity:duodenal mucosa
RGD
PMID:19342511
RGD:11541091
NCBI chr 5:55,259,841...55,315,872
Ensembl chr 5:55,259,827...55,316,391
G
Cftr
CF transmembrane conductance regulator
IDA
RGD
PMID:15905414
RGD:1599596
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
G
Egr1
early growth response 1
ISO
RGD
PMID:24385009
RGD:8694318
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
G
Il27
interleukin 27
ISO
associated with Helicobacter Infections;protein:increased expression:blood serum (human)
RGD
PMID:31702083
RGD:126790551
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
G
Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12481160 PMID:17045617
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Pla2g4a
phospholipase A2 group 4A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18451993
NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
G
Psca
prostate stem cell antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22387998
NCBI chr 7:106,598,203...106,603,114
Ensembl chr 7:106,595,284...106,609,746
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12481160
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
G
Slc11a2
solute carrier family 11 member 2
IEP
mRNA, protein:increased expression:duodenal mucosa
RGD
PMID:19342511
RGD:11541091
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
G
Stat3
signal transducer and activator of transcription 3
IMP
RGD
PMID:24385009
RGD:8694318
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
G
Tfrc
transferrin receptor
IEP
protein:increased expression:duodenal mucosa
RGD
PMID:19342511
RGD:11541091
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
G
Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12868675
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Vegfa
vascular endothelial growth factor A
IEP
associated with Candidiasis;protein:decreased expression:Duodenum:
RGD
PMID:18622701
RGD:7483560
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
associated with Diabetes Mellitus
RGD
PMID:19509015
RGD:2311355
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Ada
adenosine deaminase
ISO
protein:decreased activity:stomach:
RGD
PMID:20029210
RGD:152998951
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
G
Adm
adrenomedullin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9845272
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
G
Agt
angiotensinogen
treatment
IDA
RGD
PMID:24231511
RGD:11039418
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
G
Angpt1
angiopoietin 1
IEP
protein:increased expression:stomach
RGD
PMID:12768384
RGD:1601496
NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
G
Angpt2
angiopoietin 2
IEP
protein:increased expression:stomach (rat)
RGD
PMID:12768384
RGD:1601496
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
G
Bad
BCL2-associated agonist of cell death
treatment
IDA
RGD
PMID:24378970
RGD:10053695
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
G
Bcl2
BCL2, apoptosis regulator
treatment
IDA
RGD
PMID:24378970
RGD:10053695
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
Bcl2l1
Bcl2-like 1
treatment
IDA
RGD
PMID:24378970
RGD:10053695
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
G
Casp3
caspase 3
treatment
IEP
RGD
PMID:29339218
RGD:13792597
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
G
Cat
catalase
IEP ISO
protein:increased expression:stomach CTD Direct Evidence: therapeutic
CTD RGD
PMID:1887894 PMID:17895592
RGD:5130860
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
Cblif
cobalamin binding intrinsic factor
ISO
associated with Polycythemia; mRNA:decreased expression:gastric mucosa:
RGD
PMID:26485402
RGD:11049581
NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344
G
Cck
cholecystokinin
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9872509 PMID:10422768 PMID:10458643 PMID:11025360 PMID:11787760 PMID:15024038 More...
NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
G
Cftr
CF transmembrane conductance regulator
treatment
IDA
RGD
PMID:23596793
RGD:11567229
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
G
Col18a1
collagen type XVIII alpha 1 chain
IEP
Protein:decreased expression:serum
RGD
PMID:11353854
RGD:1600910
NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
G
Egf
epidermal growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9324159 PMID:9479624
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
G
Epo
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20723003
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
G
F13a1
coagulation factor XIII A1 chain
IEP
RGD
PMID:11435721
RGD:708325
NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
G
Fas
Fas cell surface death receptor
treatment
IEP
RGD
PMID:29339218
RGD:13792597
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Faslg
Fas ligand
treatment
IEP
RGD
PMID:29339218
RGD:13792597
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
G
Fgf2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:9127818
RGD:8655642
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
G
Fos
Fos proto-oncogene, AP-1 transcription factor subunit
treatment
IEP IMP
RGD
PMID:37637418 PMID:24496494
RGD:405650590 , RGD:405650591
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
G
Foxo4
forkhead box O4
IEP
mRNA,protein:increased expression:gastric mucosa:
RGD
PMID:22735908
RGD:10402364
NCBI chr X:66,385,241...66,392,115
Ensembl chr X:66,385,558...66,392,115
G
Ghrl
ghrelin and obestatin prepropeptide
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15177919 PMID:16259727
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
G
Hrh3
histamine receptor H3
IDA
RGD
PMID:15680274
RGD:1626428
NCBI chr 3:167,191,551...167,196,642
Ensembl chr 3:167,191,558...167,196,642
G
Iapp
islet amyloid polypeptide
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9286623
NCBI chr 4:175,237,107...175,244,373
Ensembl chr 4:175,237,115...175,242,920
G
Idua
alpha-L-iduronidase
IEP
RGD
PMID:3713687
RGD:12910841
NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11376495
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il23a
interleukin 23 subunit alpha
treatment
ISO
RGD
PMID:23874957
RGD:39458037
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
G
Il25
interleukin 25
treatment
IEP
RGD
PMID:26054198
RGD:40902976
NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893
G
Lep
leptin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10422768 PMID:11025360 PMID:11787760 PMID:15024038 PMID:16015682 PMID:18181030 More...
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Mapk1
mitogen activated protein kinase 1
IDA
RGD
PMID:25518106
RGD:13800896
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
G
Mapk3
mitogen activated protein kinase 3
IDA
RGD
PMID:25518106
RGD:13800896
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
G
Mmp13
matrix metallopeptidase 13
IEP
mRNA:increased expression:stomach
RGD
PMID:15375341
RGD:10043177
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
G
Mmp2
matrix metallopeptidase 2
IEP
mRNA:increased expression:stomach
RGD
PMID:15375341
RGD:10043177
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp3
matrix metallopeptidase 3
IEP
mRNA:increased expression:stomach
RGD
PMID:15375341
RGD:10043177
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
G
Mmp9
matrix metallopeptidase 9
IEP ISO
protein:increased expression:stomach secretion CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17603938 PMID:17603938
RGD:1642033
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
G
Muc6
mucin 6, oligomeric mucus/gel-forming
treatment
IDA
RGD
PMID:16240224
RGD:7364759
NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
G
Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12481160 PMID:15138204 PMID:19066340
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Nos3
nitric oxide synthase 3
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19066340 PMID:29095895
RGD:13446410
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Nrg1
neuregulin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16357062
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
G
Oxt
oxytocin/neurophysin I prepropeptide
IDA
RGD
PMID:11764003
RGD:2304192
NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
G
Oxtr
oxytocin receptor
IMP
RGD
PMID:11764003
RGD:2304192
NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674
G
Ptger1
prostaglandin E receptor 1
treatment
IMP ISO
RGD
PMID:10807413 PMID:10807413
RGD:10043357 , RGD:10043357
NCBI chr19:24,470,258...24,473,687
Ensembl chr19:24,467,532...24,473,559
G
Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10594344 PMID:19066340
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
G
Ptgs2
prostaglandin-endoperoxide synthase 2
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9024292 PMID:10594344 PMID:11376495 PMID:12481160 PMID:19066340 PMID:17673547 PMID:17673547 More...
RGD:2300260 , RGD:2300260
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
G
Sst
somatostatin
IEP
RGD
PMID:17990461
RGD:2303186
NCBI chr11:76,956,896...76,958,173
Ensembl chr11:76,956,896...76,958,173
G
Tek
TEK receptor tyrosine kinase
IEP
protein:increased expression:stomach
RGD
PMID:12768384
RGD:1601496
NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
G
Tff1
trefoil factor 1
IEP
mRNA, protein:increased expression:stomach mucosa
RGD
PMID:11350545
RGD:2292012
NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
G
Timp1
TIMP metallopeptidase inhibitor 1
IEP
mRNA:increased expression:stomach
RGD
PMID:15375341
RGD:10043177
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15138204
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11353854
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Vgf
VGF nerve growth factor inducible
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20805684
NCBI chr12:19,637,313...19,645,123
Ensembl chr12:19,637,320...19,640,341
G
Fgfr2
fibroblast growth factor receptor 2
ISO
associated with chronic venous insufficiency;DNA:SNP:3' utr: (human)
RGD
PMID:15854058
RGD:155663562
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
G
Edn1
endothelin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16391412
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
G
Lep
leptin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16391412
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Arid3b
AT-rich interaction domain 3B
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,193,268...58,240,901
Ensembl chr 8:58,193,418...58,238,318
G
C8h15orf39
similar to human chromosome 15 open reading frame 39
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,646,324...57,655,896
Ensembl chr 8:57,645,756...57,655,941
G
Ccdc33
coiled-coil domain containing 33
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,434,798...58,534,338
Ensembl chr 8:58,435,661...58,534,370
G
Cimap1c
ciliary microtubule associated protein 1C
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,248,746...57,281,084
Ensembl chr 8:57,248,746...57,281,004
G
Clk3
CDC-like kinase 3
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,152,155...58,167,196
Ensembl chr 8:58,152,155...58,168,181
G
Commd4
COMM domain containing 4
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,566,236...57,569,701
Ensembl chr 8:57,566,236...57,569,760
G
Cox5a
cytochrome c oxidase subunit 5A
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,922,374...57,933,781
Ensembl chr 8:57,922,290...57,933,781
G
Cplx3
complexin 3
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,003,535...58,010,297
Ensembl chr 8:58,003,535...58,010,297
G
Csk
C-terminal Src kinase
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292
G
Cspg4
chondroitin sulfate proteoglycan 4
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010
G
Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
G
Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
G
Edc3
enhancer of mRNA decapping 3
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,106,147...58,151,685
Ensembl chr 8:58,106,175...58,151,671
G
Etfa
electron transfer flavoprotein subunit alpha
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969
G
Fam219b
family with sequence similarity 219, member B
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,941,327...57,946,916
Ensembl chr 8:57,941,294...57,946,906
G
Fbxo22
F-box protein 22
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:55,579,906...55,595,981
Ensembl chr 8:55,579,891...55,596,148
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Imp3
IMP U3 small nucleolar ribonucleoprotein 3
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,339,528...57,340,416
Ensembl chr 8:57,339,496...57,340,414
G
Isl2
ISL LIM homeobox 2
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:55,923,805...55,928,790
Ensembl chr 8:55,923,805...55,928,790
G
Islr
immunoglobulin superfamily containing leucine-rich repeat
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,571,155...58,574,128
Ensembl chr 8:58,570,777...58,574,130
G
Islr2
immunoglobulin superfamily containing leucine-rich repeat 2
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,608,165...58,616,246
Ensembl chr 8:58,608,709...58,614,650
G
Lman1l
lectin, mannose-binding, 1 like
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,010,839...58,029,599
Ensembl chr 8:58,010,839...58,023,681
G
Loxl1
lysyl oxidase-like 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356
G
Man2c1
mannosidase, alpha, class 2C, member 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690
G
Mpi
mannose phosphate isomerase
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150
G
Neil1
nei-like DNA glycosylase 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
G
Nrg4
neuregulin 4
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:55,586,253...55,677,829
Ensembl chr 8:55,592,893...55,677,483
G
Pml
PML nuclear body scaffold
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
G
Ppcdc
phosphopantothenoylcysteine decarboxylase
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,815,195...57,842,863
Ensembl chr 8:57,815,195...58,000,570
G
Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum and acne | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11971877 PMID:14595024 PMID:15580218 PMID:16199547 PMID:16527883 PMID:17576681 PMID:19673875 PMID:19934105 PMID:20506269 PMID:22161697 PMID:22513199 PMID:23571383 PMID:24139496 PMID:25683018 PMID:25741868 PMID:25845478 PMID:26025129 PMID:26386126 PMID:27106250 PMID:27577878 PMID:28492532 PMID:28628471 PMID:28960754 PMID:29150835 PMID:29432774 PMID:30198636 PMID:30290665 PMID:30783801 PMID:31119601 PMID:31789267 PMID:32054657 PMID:32441320 PMID:32888943 PMID:33597285 PMID:34273117 PMID:34399798 PMID:34620178 PMID:35152348 PMID:35482138 More...
NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
G
Ptpn9
protein tyrosine phosphatase, non-receptor type 9
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,391,290...57,472,352
Ensembl chr 8:57,391,259...57,470,952
G
Rcn2
reticulocalbin 2
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:56,449,206...56,466,253
Ensembl chr 8:56,449,206...56,466,251
G
Rpp25
ribonuclease P and MRP subunit p25
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,907,352...57,908,732
Ensembl chr 8:57,907,352...57,908,732
G
Scamp2
secretory carrier membrane protein 2
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,965,612...57,992,248
Ensembl chr 8:57,965,631...57,992,646
G
Scamp5
secretory carrier membrane protein 5
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,845,831...57,884,516
Ensembl chr 8:57,846,659...57,872,027
G
Scaper
S-phase cyclin A-associated protein in the ER
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122
G
Sema7a
semaphorin 7A (John Milton Hagen blood group)
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,348,448...58,370,536
Ensembl chr 8:58,348,448...58,370,536
G
Sin3a
SIN3 transcription regulator family member A
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
G
Snupn
snurportin 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,347,412...57,388,345
Ensembl chr 8:57,348,130...57,380,912
G
Snx33
sorting nexin 33
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,315,861...57,328,522
Ensembl chr 8:57,317,161...57,327,538
G
Stoml1
stomatin like 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,661,980...58,669,860
Ensembl chr 8:58,661,992...58,669,860
G
Stra6
signaling receptor and transporter of retinol STRA6
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860
G
Tmem266
transmembrane protein 266
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:55,707,122...55,820,692
Ensembl chr 8:55,707,122...55,820,692
G
Ube2q2
ubiquitin conjugating enzyme E2 Q2
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:55,518,402...55,578,342
Ensembl chr 8:55,519,147...55,577,212
G
Ubl7
ubiquitin-like 7
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,321,279...58,340,353
Ensembl chr 8:58,320,866...58,340,344
G
Ulk3
unc-51 like kinase 3
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,992,396...58,000,220
Ensembl chr 8:57,992,723...57,999,467
G
Bmp4
bone morphogenetic protein 4
IEP
protein:increased expression:esophagus:
RGD
PMID:17570215
RGD:8699511
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
G
Ccl5
C-C motif chemokine ligand 5
IEP
associated with Asthma;mRNA:increased expression:esophagus
RGD
PMID:18222984
RGD:2307110
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Cldn3
claudin 3
IEP
protein:altered expression:epithelial cell, esophagus:
RGD
PMID:21373849
RGD:11344880
NCBI chr12:21,708,538...21,710,010
Ensembl chr12:21,708,398...21,711,001
G
Cldn4
claudin 4
IEP
protein:altered localization:esophagus epithelium, cytoplasm
RGD
PMID:16143882
RGD:2317602
NCBI chr12:21,751,638...21,753,436
Ensembl chr12:21,751,331...21,753,436
G
Egfr
epidermal growth factor receptor
IEP
mRNA, protein:increased expression:esophagus, basal cell
RGD
PMID:11966524
RGD:10395244
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
G
F11r
F11 receptor
treatment
IEP
RGD
PMID:19478094
RGD:7488941
NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402
G
Il13
interleukin 13
IEP
associated with asthma; mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid
RGD
PMID:18222984
RGD:2307110
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Il5
interleukin 5
IEP
associated with asthma; mRNA:increased expression:esophagus
RGD
PMID:18222984
RGD:2307110
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
G
Mir223
microRNA 223
IEP
RNA:increased expression: esophagus
RGD
PMID:28757556
RGD:25824949
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
G
Mir29a
microRNA 29a
IEP
RGD
PMID:28757556
RGD:25824949
NCBI chr 4:59,650,608...59,650,695
G
Psmb9
proteasome 20S subunit beta 9
IEP
protein:decreased expression:esophageal epithelium (rat)
RGD
PMID:23942904
RGD:9854630
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
G
Ptges
prostaglandin E synthase
IEP
protein:increased expression:esophagus
RGD
PMID:16210398
RGD:2300085
NCBI chr 3:14,177,892...14,189,236
G
Tjp1
tight junction protein 1
IEP
RGD
PMID:19653339
RGD:2325133
NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
G
Tnf
tumor necrosis factor
IDA
RGD
PMID:15942680
RGD:1580209
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)
RGD
PMID:25910066
RGD:11055189
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
G
Cnr1
cannabinoid receptor 1
IDA
RGD
PMID:19827302
RGD:2314640
NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
G
Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment susceptibility
ISO
DNA:polymorphisms:exons: DNA:SNP: :CYP2C19*17(human)
RGD
PMID:9867757 PMID:23267857
RGD:124713408 , RGD:124713412
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
G
Edn1
endothelin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16384872
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
G
Gast
gastrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10700044
NCBI chr10:85,264,832...85,269,393
Ensembl chr10:85,264,832...85,267,496
G
Gsr
glutathione-disulfide reductase
treatment
IEP
RGD
PMID:24480520
RGD:10401900
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
G
Hmox1
heme oxygenase 1
IMP
RGD
PMID:20610858
RGD:4145283
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Hpgd
15-hydroxyprostaglandin dehydrogenase
treatment
IEP
RGD
PMID:23884819
RGD:11667098
NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19448967
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il27
interleukin 27
ISO
associated with Helicobacter infections;protein:increased expression:blood serum (human)
RGD
PMID:21791025
RGD:126790506
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
G
Il33
interleukin 33
susceptibility
ISO
associated with Helicobacter Infections;DNA:SNP: : rs1929992(human)
RGD
PMID:31491552
RGD:39938849
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Mefv
MEFV innate immunity regulator, pyrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
G
Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:skin
RGD
PMID:21658319
RGD:8657060
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:skin
RGD
PMID:21658319
RGD:8657060
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
G
Nod2
nucleotide-binding oligomerization domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
G
Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
G
Esr1
estrogen receptor 1
no_association
ISO
RGD
PMID:16153823
RGD:1626508
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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 chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
G
Lepr
leptin receptor
ISO
mRNA:decreased expression:skin
RGD
PMID:22773832
RGD:10412021
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Mbl2
mannose binding lectin 2
ISO
protein:decreased expression:serum:
RGD
PMID:19997692
RGD:8694068
NCBI chr 1:228,016,439...228,024,736
G
Mir21
microRNA 21
ISO
miRNA:increased expression:skin:
RGD
PMID:22773832
RGD:10412021
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
G
Alb
albumin
ISO
protein:decreased expression:serum
RGD
PMID:908508
RGD:2325683
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
G
Egf
epidermal growth factor
ISO
protein:increased expression:saliva
RGD
PMID:10811321
RGD:2317668
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all