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
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Ccr5
C-C motif chemokine receptor 5
ISO
associated with Herpes Genitalis
RGD
PMID:18008231
RGD:8551830
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Ddit3
DNA-damage inducible transcript 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20668000
NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157 Ensembl chr10:127,126,643...127,132,157
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Fgf2
fibroblast growth factor 2
ISO
protein:increased expression, alternative forms:mucosa of stomach
RGD
PMID:21600881
RGD:8655658
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
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Gstm1
glutathione S-transferase, mu 1
susceptibility
ISO
associated with sickle cell anemia;
RGD
PMID:23590899
RGD:10450838
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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Hif1a
hypoxia inducible factor 1, alpha subunit
ISO
protein:increased expression:esophagus (rat)
RGD
PMID:12368217
RGD:632996
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
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Itgb3
integrin beta 3
susceptibility
ISO
associated with Behcet Syndrome; DNA:polymorphism: :
RGD
PMID:21813062
RGD:8693342
NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
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Mmp14
matrix metallopeptidase 14 (membrane-inserted)
ISO
RGD
PMID:12452868
RGD:1582583
NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:12452868
RGD:1582583
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp3
matrix metallopeptidase 3
ISO
associated with Melanoma
RGD
PMID:15750195
RGD:8693676
NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
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Ppif
peptidylprolyl isomerase F (cyclophilin F)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20668000
NCBI chr14:25,693,998...25,700,892
Ensembl chr14:25,694,578...25,700,892
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Slc11a1
solute carrier family 11 (proton-coupled divalent metal ion transporters), 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 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:19638336
RGD:2315843
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
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Icam1
intercellular adhesion molecule 1
ISO
associated with Scleroderma, Systemic;protein:increased expression:blood
RGD
PMID:8099861
RGD:8547587
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Itgb2
integrin beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9653089
NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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Lama3
laminin, alpha 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12915477
NCBI chr18:12,466,806...12,716,070
Ensembl chr18:12,466,876...12,716,070
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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 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Ngf
nerve growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24244623
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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Pdgfa
platelet derived growth factor, alpha
ISO
RGD
PMID:16383039
RGD:2292163
NCBI chr 5:138,961,761...138,986,336
Ensembl chr 5:138,961,769...138,983,125
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Pdgfra
platelet derived growth factor receptor, alpha polypeptide
ISO
RGD
PMID:16383039
RGD:2292163
NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
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Pepd
peptidase D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16470701
NCBI chr 7:34,611,832...34,744,131
Ensembl chr 7:34,611,804...34,744,133
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Plcb3
phospholipase C, beta 3
IMP
RGD
PMID:10669417
RGD:737745
NCBI chr19:6,931,081...6,951,738
Ensembl chr19:6,929,693...6,953,838
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Il6
interleukin 6
ISO
associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte:
RGD
PMID:12714388
RGD:7829721
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Muc5ac
mucin 5, subtypes A and C, tracheobronchial/gastric
ISO
associated with Hypersensitivity;mRNA:decreased expression:eye
RGD
PMID:16251127
RGD:7364739
NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968
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Ngf
nerve growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24244623
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19553628
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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Tnf
tumor necrosis factor
ISO
associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte:
RGD
PMID:12714388
RGD:7829721
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:23740668
RGD:8655548
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
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Hif1a
hypoxia inducible factor 1, alpha subunit
ISO
mRNA, protein:increased expression:deep dorsal muscles (rat)
RGD
PMID:20223667
RGD:8694460
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
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Il10
interleukin 10
ISO
mRNA:increased expression:skin
RGD
PMID:26177082
RGD:11049489
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Kdr
kinase insert domain protein receptor
ISO
protein:increased expression:skin:
RGD
PMID:12692851
RGD:8551845
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:skin:
RGD
PMID:12692851 PMID:23740668
RGD:8551845 , RGD:8655548
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:20836881
RGD:5686889
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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Ager
advanced glycosylation end product-specific receptor
ISO
associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood
RGD
PMID:21941211
RGD:6767555
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Crp
C-reactive protein, pentraxin-related
disease_progression
ISO
protein:increased expression:blood:
RGD
PMID:22712631
RGD:6906887
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Gja1
gap junction protein, alpha 1
ISO
protein:increased expression:dermis
RGD
PMID:22455314
RGD:7207269
NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609
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H19
H19, imprinted maternally expressed transcript
ameliorates
ISO IMP
RNA:increased expression:foot (human)
RGD
PMID:33174326 PMID:33174326
RGD:156451663 , RGD:156451663
NCBI chr 7:142,129,267...142,131,883
Ensembl chr 7:142,129,262...142,133,957
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Hif1a
hypoxia inducible factor 1, alpha subunit
ISO
mRNA,protein:decreased expression:blood serum, foot (human)
RGD
PMID:34293021
RGD:155260332
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
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Hspa1b
heat shock protein 1B
severity
ISO
DNA:polymorphism: :1538G>A (human)
RGD
PMID:19731315
RGD:8662463
NCBI chr17:35,175,405...35,178,214
Ensembl chr17:35,175,412...35,178,214
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Igf1
insulin-like growth factor 1
ISO
protein:decreased expression:fibroblast of dermis,stratum basale of epidermis:
RGD
PMID:10727985
RGD:8549356
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
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Il15
interleukin 15
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:dermis, endothelial cell
RGD
PMID:17014667
RGD:2313575
NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
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Itgam
integrin alpha M
ISO
protein:increased expression:pes (human)
RGD
PMID:37087778
RGD:329853756
NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
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Mbl2
mannose-binding lectin (protein C) 2
ISO
protein:increased expression:serum:
RGD
PMID:19997692
RGD:8694068
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Mir17
microRNA 17
ISO
RGD
PMID:36333728
RGD:329349308
NCBI chr14:115,281,103...115,281,186
Ensembl chr14:115,281,103...115,281,186
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Mir210
microRNA 210
ISO
miRNA:increased expression:blood serum, foot (human)
RGD
PMID:34293021
RGD:155260332
NCBI chr 7:140,801,297...140,801,406
Ensembl chr 7:140,801,297...140,801,406
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Mmp9
matrix metallopeptidase 9
severity
ISO
RGD
PMID:22688339
RGD:8547813
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Notch1
notch 1
ISO
protein:increased expression:skin, epidermis:
RGD
PMID:30886104
RGD:155646129
NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675
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Plat
plasminogen activator, tissue
ISO
RGD
PMID:17275886
RGD:2311669
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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Ptx3
pentraxin related gene
ISO
protein:decreased expression:plasma (human)
RGD
PMID:30767386
RGD:38501100
NCBI chr 3:66,127,308...66,133,227
Ensembl chr 3:66,127,331...66,133,226
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Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:SNPs,haplotype: :rs4986790,rs4986791,rs10759931,rs1927911(human);
RGD
PMID:23936790
RGD:7777174
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22387998
NCBI chr 2:26,732,508...26,754,973
Ensembl chr 2:26,732,515...26,754,991
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Aco1
aconitase 1
ISO
protein:increased activity:duodenal mucosa
RGD
PMID:19342511
RGD:11541091
NCBI chr 4:40,143,429...40,199,011
Ensembl chr 4:40,143,081...40,198,338
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Cftr
cystic fibrosis transmembrane conductance regulator
ISO
RGD
PMID:15905414
RGD:1599596
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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Egr1
early growth response 1
IMP
RGD
PMID:24385009
RGD:8694318
NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037
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Il27
interleukin 27
ISO
associated with Helicobacter Infections;protein:increased expression:blood serum (human)
RGD
PMID:31702083
RGD:126790551
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Nos2
nitric oxide synthase 2, inducible
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12481160 PMID:17045617
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Pla2g4a
phospholipase A2, group IVA (cytosolic, calcium-dependent)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18451993
NCBI chr 1:149,705,369...149,837,041
Ensembl chr 1:149,705,369...149,837,041
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Psca
prostate stem cell antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22387998
NCBI chr15:74,586,688...74,588,914
Ensembl chr15:74,586,688...74,588,918
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12481160
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Slc11a2
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2
ISO
mRNA, protein:increased expression:duodenal mucosa
RGD
PMID:19342511
RGD:11541091
NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953
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Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:24385009
RGD:8694318
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Tfrc
transferrin receptor
ISO
protein:increased expression:duodenal mucosa
RGD
PMID:19342511
RGD:11541091
NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12868675
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Vegfa
vascular endothelial growth factor A
ISO
associated with Candidiasis;protein:decreased expression:Duodenum:
RGD
PMID:18622701
RGD:7483560
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
associated with Diabetes Mellitus
RGD
PMID:19509015
RGD:2311355
NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748
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Ada
adenosine deaminase
ISO
protein:decreased activity:stomach:
RGD
PMID:20029210
RGD:152998951
NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159
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Adm
adrenomedullin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9845272
NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027
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Agt
angiotensinogen
treatment
ISO
RGD
PMID:24231511
RGD:11039418
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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Angpt1
angiopoietin 1
ISO
protein:increased expression:stomach
RGD
PMID:12768384
RGD:1601496
NCBI chr15:42,288,063...42,540,373
Ensembl chr15:42,288,119...42,540,373
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Angpt2
angiopoietin 2
ISO
protein:increased expression:stomach (rat)
RGD
PMID:12768384
RGD:1601496
NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578
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Bad
BCL2-associated agonist of cell death
treatment
ISO
RGD
PMID:24378970
RGD:10053695
NCBI chr19:6,919,229...6,929,273
Ensembl chr19:6,919,229...6,929,267
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Bcl2
B cell leukemia/lymphoma 2
treatment
ISO
RGD
PMID:24378970
RGD:10053695
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Bcl2l1
BCL2-like 1
treatment
ISO
RGD
PMID:24378970
RGD:10053695
NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648
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Casp3
caspase 3
treatment
ISO
RGD
PMID:29339218
RGD:13792597
NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
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Cat
catalase
ISO
protein:increased expression:stomach CTD Direct Evidence: therapeutic
CTD RGD
PMID:1887894 PMID:17895592
RGD:5130860
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Cblif
cobalamin binding intrinsic factor
ISO
associated with Polycythemia; mRNA:decreased expression:gastric mucosa:
RGD
PMID:26485402
RGD:11049581
NCBI chr19:11,724,907...11,740,811
Ensembl chr19:11,724,918...11,740,811
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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 9:121,318,890...121,324,728
Ensembl chr 9:121,318,890...121,324,760
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Cftr
cystic fibrosis transmembrane conductance regulator
treatment
ISO
RGD
PMID:23596793
RGD:11567229
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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Col18a1
collagen, type XVIII, alpha 1
ISO
Protein:decreased expression:serum
RGD
PMID:11353854
RGD:1600910
NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382
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Egf
epidermal growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9324159 PMID:9479624
NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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Epo
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20723003
NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
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F13a1
coagulation factor XIII, A1 subunit
ISO
RGD
PMID:11435721
RGD:708325
NCBI chr13:37,051,150...37,234,220
Ensembl chr13:37,051,152...37,234,220
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Fas
Fas cell surface death receptor
treatment
ISO
RGD
PMID:29339218
RGD:13792597
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fasl
Fas ligand
treatment
ISO
RGD
PMID:29339218
RGD:13792597
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
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Fgf2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:9127818
RGD:8655642
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
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Fos
FBJ osteosarcoma oncogene
treatment
ISO
RGD
PMID:37637418 PMID:24496494
RGD:405650590 , RGD:405650591
NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047
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Foxo4
forkhead box O4
ISO
mRNA,protein:increased expression:gastric mucosa:
RGD
PMID:22735908
RGD:10402364
NCBI chr X:100,297,855...100,304,479
Ensembl chr X:100,298,134...100,304,479
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Ghrl
ghrelin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15177919 PMID:16259727
NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841
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Hrh3
histamine receptor H3
ISO
RGD
PMID:15680274
RGD:1626428
NCBI chr 2:179,741,258...179,746,264
Ensembl chr 2:179,741,258...179,746,281
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Iapp
islet amyloid polypeptide
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9286623
NCBI chr 6:142,244,151...142,249,546
Ensembl chr 6:142,244,149...142,249,687
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Idua
iduronidase, alpha-L
ISO
RGD
PMID:3713687
RGD:12910841
NCBI chr 5:108,808,197...108,833,312
Ensembl chr 5:108,808,197...108,832,423
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11376495
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il23a
interleukin 23, alpha subunit p19
treatment
IMP
RGD
PMID:23874957
RGD:39458037
NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621
G
Il25
interleukin 25
treatment
ISO
RGD
PMID:26054198
RGD:40902976
NCBI chr14:55,170,152...55,173,294
Ensembl chr14:55,170,152...55,173,294
G
Lep
leptin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10422768 PMID:11025360 PMID:11787760 PMID:15024038 PMID:16015682 PMID:18181030 More...
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
G
Mapk1
mitogen-activated protein kinase 1
ISO
RGD
PMID:25518106
RGD:13800896
NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317
G
Mapk3
mitogen-activated protein kinase 3
ISO
RGD
PMID:25518106
RGD:13800896
NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
G
Mmp13
matrix metallopeptidase 13
ISO
mRNA:increased expression:stomach
RGD
PMID:15375341
RGD:10043177
NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331
G
Mmp2
matrix metallopeptidase 2
ISO
mRNA:increased expression:stomach
RGD
PMID:15375341
RGD:10043177
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
G
Mmp3
matrix metallopeptidase 3
ISO
mRNA:increased expression:stomach
RGD
PMID:15375341
RGD:10043177
NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:stomach secretion CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17603938 PMID:17603938
RGD:1642033
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Muc5ac
mucin 5, subtypes A and C, tracheobronchial/gastric
treatment
ISO
mRNA, protein:decreased expression:stomach
RGD
PMID:11956390 PMID:16240224
RGD:2324968 , RGD:7364759
NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968
G
Muc6
mucin 6, gastric
treatment
ISO
RGD
PMID:16240224
RGD:7364759
NCBI chr 7:141,212,404...141,241,659
Ensembl chr 7:141,213,373...141,241,641
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Nos2
nitric oxide synthase 2, inducible
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12481160 PMID:15138204 PMID:19066340
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
G
Nos3
nitric oxide synthase 3, endothelial cell
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19066340 PMID:29095895
RGD:13446410
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
G
Nrg1
neuregulin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16357062
NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825 Ensembl chr 8:32,304,579...33,374,825
G
Oxt
oxytocin
ISO
RGD
PMID:11764003
RGD:2304192
NCBI chr 2:130,416,432...130,418,974
Ensembl chr 2:130,418,093...130,418,974
G
Oxtr
oxytocin receptor
ISO
RGD
PMID:11764003
RGD:2304192
NCBI chr 6:112,450,646...112,467,800
Ensembl chr 6:112,450,644...112,466,904
G
Ptger1
prostaglandin E receptor 1 (subtype EP1)
treatment
ISO IMP
RGD
PMID:10807413 PMID:10807413
RGD:10043357 , RGD:10043357
NCBI chr 8:84,393,171...84,399,385
Ensembl chr 8:84,393,307...84,399,382
G
Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10594344 PMID:19066340
NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
G
Ptgs2
prostaglandin-endoperoxide synthase 2
IAGP 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 chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Sst
somatostatin
ISO
RGD
PMID:17990461
RGD:2303186
NCBI chr16:23,708,327...23,710,041
Ensembl chr16:23,708,323...23,709,708
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Tek
TEK receptor tyrosine kinase
ISO
protein:increased expression:stomach
RGD
PMID:12768384
RGD:1601496
NCBI chr 4:94,627,322...94,763,213
Ensembl chr 4:94,627,526...94,763,213
G
Tff1
trefoil factor 1
ISO
mRNA, protein:increased expression:stomach mucosa
RGD
PMID:11350545
RGD:2292012
NCBI chr17:31,380,369...31,384,034
Ensembl chr17:31,380,369...31,384,251
G
Timp1
tissue inhibitor of metalloproteinase 1
ISO
mRNA:increased expression:stomach
RGD
PMID:15375341
RGD:10043177
NCBI chr X:20,736,524...20,740,972
Ensembl chr X:20,736,405...20,740,974
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15138204
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11353854
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Vgf
VGF nerve growth factor inducible
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20805684
NCBI chr 5:137,054,156...137,062,205
Ensembl chr 5:137,055,246...137,062,205
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Fgfr2
fibroblast growth factor receptor 2
ISO
associated with chronic venous insufficiency;DNA:SNP:3' utr: (human)
RGD
PMID:15854058
RGD:155663562
NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079
G
Edn1
endothelin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16391412
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
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Hspd1
heat shock protein 1 (chaperonin)
ISO
associated with Behcet Syndrome;protein:increased expression:muccal mucosa:
RGD
PMID:20580281
RGD:12910477
NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402
G
Lep
leptin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16391412
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
G
1700017B05Rik
RIKEN cDNA 1700017B05 gene
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,159,605...57,169,882
Ensembl chr 9:57,160,400...57,169,895
G
Arid3b
AT-rich interaction domain 3B
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,697,636...57,744,130
Ensembl chr 9:57,697,636...57,744,076
G
Ccdc33
coiled-coil domain containing 33
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,935,956...58,026,111
Ensembl chr 9:57,935,960...58,026,106
G
Cimap1c
ciliary microtubule associated protein 1C
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:56,755,940...56,779,199
Ensembl chr 9:56,755,943...56,771,963
G
Clk3
CDC-like kinase 3
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,657,904...57,672,397
Ensembl chr 9:57,657,907...57,673,143
G
Commd4
COMM domain containing 4
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,062,319...57,065,633
Ensembl chr 9:57,062,319...57,065,615
G
Cox5a
cytochrome c oxidase subunit 5A
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,423,012...57,439,710
Ensembl chr 9:57,428,557...57,439,709
G
Cplx3
complexin 3
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,507,275...57,513,564
Ensembl chr 9:57,507,275...57,513,564
G
Csk
c-src tyrosine kinase
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,533,929...57,560,758
Ensembl chr 9:57,533,929...57,560,914
G
Cspg4
chondroitin sulfate proteoglycan 4
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:56,772,388...56,807,154
Ensembl chr 9:56,772,317...56,807,154
G
Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,905,307...57,934,314
Ensembl chr 9:57,913,694...57,934,306
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
G
Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,584,220...57,590,938
Ensembl chr 9:57,584,220...57,590,986
G
Edc3
enhancer of mRNA decapping 3
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,615,823...57,659,782
Ensembl chr 9:57,615,823...57,659,782
G
Etfa
electron transferring flavoprotein, alpha polypeptide
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:55,361,720...55,419,528
Ensembl chr 9:55,361,792...55,419,527
G
Fam219b
family with sequence similarity 219, member B
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,443,648...57,450,471
Ensembl chr 9:57,444,811...57,450,467
G
Fbxo22
F-box protein 22
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:55,116,219...55,131,717
Ensembl chr 9:55,116,209...55,131,717
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Imp3
IMP3, U3 small nucleolar ribonucleoprotein
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:56,844,784...56,845,682
Ensembl chr 9:56,844,759...56,845,682
G
Isl2
insulin related protein 2 (islet 2)
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:55,445,961...55,454,951
Ensembl chr 9:55,445,956...55,453,464
G
Islr
immunoglobulin superfamily containing leucine-rich repeat
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:58,063,547...58,066,563
Ensembl chr 9:58,063,551...58,111,589
G
Islr2
immunoglobulin superfamily containing leucine-rich repeat 2
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:58,103,580...58,113,563
Ensembl chr 9:58,103,580...58,111,602
G
Lman1l
lectin, mannose-binding 1 like
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,514,080...57,528,057
Ensembl chr 9:57,514,368...57,528,057
G
Loxl1
lysyl oxidase-like 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:58,195,006...58,220,495
Ensembl chr 9:58,195,021...58,220,469
G
Man2c1
mannosidase, alpha, class 2C, member 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,037,953...57,049,497
Ensembl chr 9:57,037,974...57,050,006
G
Mpi
mannose phosphate isomerase
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,448,744...57,460,095
Ensembl chr 9:57,451,539...57,460,046
G
Neil1
nei endonuclease VIII-like 1 (E. coli)
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,050,072...57,055,973
Ensembl chr 9:57,050,084...57,055,589
G
Nrg4
neuregulin 4
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:55,127,506...55,190,937
Ensembl chr 9:55,127,506...55,234,128
G
Pml
promyelocytic leukemia
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:58,125,359...58,157,077
Ensembl chr 9:58,125,359...58,157,069
G
Ppcdc
phosphopantothenoylcysteine decarboxylase
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,292,378...57,347,440
Ensembl chr 9:57,292,378...57,347,407
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:9262226 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:27943240 PMID:28251506 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:34047005 PMID:34273117 PMID:34399798 PMID:34620178 PMID:35152348 PMID:35482138 PMID:37628706 More...
NCBI chr 9:55,985,729...56,036,174
Ensembl chr 9:55,997,246...56,036,172
G
Ptpn9
protein tyrosine phosphatase, non-receptor type 9
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:56,902,252...56,970,092
Ensembl chr 9:56,902,207...56,970,091
G
Rcn2
reticulocalbin 2
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:55,949,129...55,966,367
Ensembl chr 9:55,949,129...55,969,166
G
Rpp25
ribonuclease P/MRP 25 subunit
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,411,385...57,412,730
Ensembl chr 9:57,411,309...57,412,731
G
Scamp2
secretory carrier membrane protein 2
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,468,227...57,496,081
Ensembl chr 9:57,468,226...57,496,078
G
Scamp5
secretory carrier membrane protein 5
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,348,610...57,375,343
Ensembl chr 9:57,348,610...57,375,343
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 9:55,457,163...55,845,505
Ensembl chr 9:55,457,163...55,845,403
G
Sema7a
sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,846,879...57,870,148
Ensembl chr 9:57,847,395...57,870,148
G
Sin3a
transcriptional regulator, SIN3A (yeast)
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:56,979,271...57,035,652
Ensembl chr 9:56,979,324...57,035,650
G
Snupn
snurportin 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:56,855,158...56,893,545
Ensembl chr 9:56,858,162...56,890,490
G
Snx33
sorting nexin 33
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:56,824,472...56,835,726
Ensembl chr 9:56,824,477...56,835,655
G
Stoml1
stomatin-like 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:58,160,443...58,169,807
Ensembl chr 9:58,160,447...58,169,803
G
Stra6
stimulated by retinoic acid gene 6
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,971,076...58,061,287
Ensembl chr 9:57,971,071...58,061,279
G
Tmem266
transmembrane protein 266
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:55,234,194...55,345,629
Ensembl chr 9:55,234,197...55,345,629
G
Ube2q2
ubiquitin-conjugating enzyme E2Q family member 2
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:55,056,602...55,114,813
Ensembl chr 9:55,056,138...55,114,813
G
Ubl7
ubiquitin-like 7 (bone marrow stromal cell-derived)
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,818,280...57,837,624
Ensembl chr 9:57,818,262...57,837,251
G
Ulk3
unc-51-like kinase 3
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 9:57,496,423...57,503,516
Ensembl chr 9:57,496,735...57,503,516
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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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Cnr1
cannabinoid receptor 1
ISO
RGD
PMID:19827302
RGD:2314640
NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831
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Cyp2c38
cytochrome P450, family 2, subfamily c, polypeptide 38
treatment susceptibility
ISO
DNA:polymorphisms:exons: DNA:SNP: :CYP2C19*17(human)
RGD
PMID:9867757 PMID:23267857
RGD:124713408 , RGD:124713412
NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
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Edn1
endothelin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16384872
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
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Gast
gastrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10700044
NCBI chr11:100,225,233...100,227,823
Ensembl chr11:100,225,233...100,227,822
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Gsr
glutathione reductase
treatment
ISO
RGD
PMID:24480520
RGD:10401900
NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191
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H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
associated with Helicobacter Infections;DNA:polymorphisms:cds:HLA-DRB1*07, HLA-DRB1*17 (human)
RGD
PMID:20405713
RGD:5147609
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Hmox1
heme oxygenase 1
ISO
RGD
PMID:20610858
RGD:4145283
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Hpgd
hydroxyprostaglandin dehydrogenase 15 (NAD)
treatment
ISO
RGD
PMID:23884819
RGD:11667098
NCBI chr 8:56,747,587...56,774,081
Ensembl chr 8:56,747,620...56,774,078
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19448967
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il27
interleukin 27
ISO
associated with Helicobacter infections;protein:increased expression:blood serum (human)
RGD
PMID:21791025
RGD:126790506
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Il33
interleukin 33
susceptibility
ISO
associated with Helicobacter Infections;DNA:SNP: : rs1929992(human)
RGD
PMID:31491552
RGD:39938849
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Mefv
Mediterranean fever
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:skin
RGD
PMID:21658319
RGD:8657060
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:skin
RGD
PMID:21658319
RGD:8657060
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
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Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 9:55,985,729...56,036,174
Ensembl chr 9:55,997,246...56,036,172
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Esr1
estrogen receptor 1 (alpha)
no_association
ISO
RGD
PMID:16153823
RGD:1626508
NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614
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Esr2
estrogen receptor 2 (beta)
ISO
DNA:polymorphism:intron:(CA) dinucleotide repeat (human) DNA:SNPs:promoter, exon
RGD
PMID:16153823 PMID:18070128
RGD:1626508 , RGD:8553061
NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
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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 chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837
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Lepr
leptin receptor
ISO
mRNA:decreased expression:skin
RGD
PMID:22773832
RGD:10412021
NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
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Mbl2
mannose-binding lectin (protein C) 2
ISO
protein:decreased expression:serum:
RGD
PMID:19997692
RGD:8694068
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Mir21a
microRNA 21a
ISO
miRNA:increased expression:skin:
RGD
PMID:22773832
RGD:10412021
NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
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Alb
albumin
ISO
protein:decreased expression:serum
RGD
PMID:908508
RGD:2325683
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Egf
epidermal growth factor
ISO
protein:increased expression:saliva
RGD
PMID:10811321
RGD:2317668
NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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Igf1r
insulin-like growth factor I receptor
ISO
mRNA and protein: increased expression::poor prognosis for high expression
RGD
PMID:15867218
RGD:7242847
NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
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