RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | arthritis |
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Accession: | DOID:848
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browse the term
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Definition: | A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint. (DO) |
Synonyms: | exact_synonym: | Arthritides; Polyarthritides; Polyarthritis; inflammatory disorder of joint |
| primary_id: | MESH:D001168 |
| xref: | EFO:0005856; ICD10CM:M19.90; NCI:C2883 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Ankh |
ANKH inorganic pyrophosphate transport regulator |
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ISO |
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RGD |
PMID:10894769 |
RGD:734569 |
NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187
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B2m |
beta-2 microglobulin |
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ISO |
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RGD |
PMID:16575857 |
RGD:6482692 |
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Cd40 |
CD40 molecule |
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ISO |
associated with Lupus Erythematosus, Systemic;DNA:SNP: :rs73115010, rs6074028 (human) |
RGD |
PMID:23256180 |
RGD:7248721 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd69 |
Cd69 molecule |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12882836 |
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NCBI chr 4:162,725,446...162,733,364
Ensembl chr 4:162,725,446...162,733,542
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Cnr2 |
cannabinoid receptor 2 |
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IMP |
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RGD |
PMID:18075852 |
RGD:2316223 |
NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
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Col2a1 |
collagen type II alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17299831 PMID:24144632 PMID:26640276 PMID:36121554 PMID:37358659 |
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NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Copa |
COPI coat complex subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25894502 |
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NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874
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Cpt2 |
carnitine palmitoyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Arthritis |
ClinVar |
PMID:7711730 PMID:9600456 PMID:10090476 PMID:12410208 PMID:12673791 PMID:12707442 PMID:15622536 PMID:16996287 PMID:17936304 PMID:20301431 PMID:22975760 PMID:25741868 PMID:28492532 PMID:34063237 More...
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NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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Fcgr3a |
Fc gamma receptor 3A |
susceptibility |
ISO |
associated with Behcet Syndrome; DNA:SNP:exon:p.F158V (rs396991)(human) DNA:SNP:exon:F158V (rs396991)(human) |
RGD |
PMID:19026120 PMID:19005160 |
RGD:5508432, RGD:5508443 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Gc |
GC, vitamin D binding protein |
susceptibility |
ISO |
associated with Spondylitis, Ankylosing;DNA:SNPs: :rs222016, rs222020,rs3733359(human) |
RGD |
PMID:21844150 |
RGD:5509918 |
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Hp |
haptoglobin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 |
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NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Il23r |
interleukin 23 receptor |
susceptibility |
ISO |
associated with Psoriasis;DNA:haplotype::rs7530511, rs11209026(human) |
RGD |
PMID:19035472 |
RGD:8549572 |
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Irf5 |
interferon regulatory factor 5 |
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ISO |
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RGD |
PMID:32743529 |
RGD:40924631 |
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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Parp1 |
poly (ADP-ribose) polymerase 1 |
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ISO |
associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, p.V762A (40329T>C) (human) |
RGD |
PMID:16461442 |
RGD:1601085 |
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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RT1-Ba |
RT1 class II, locus Ba |
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ISO |
DNA:polymorphism (human) |
RGD |
PMID:20472930 |
RGD:5147787 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb |
RT1 class II, locus Bb |
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ISO |
DNA:polymorphism (human) |
RGD |
PMID:20472930 |
RGD:5147787 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-CE13 |
RT1 class I, locus CE13 |
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ISO |
associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:HLA-B*27, HLA-B*35, HLA-B*44 (human) |
RGD |
PMID:10648455 |
RGD:7364930 |
NCBI chr20:3,314,830...3,318,106
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RT1-M5 |
RT1 class Ib, locus M5 |
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ISO |
associated with Inflammatory Bowel Diseases;DNA:polymorphisms:cds:multiple (human) |
RGD |
PMID:10648455 |
RGD:7364930 |
NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775
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Sele |
selectin E |
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ISO |
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RGD |
PMID:16207337 |
RGD:1580041 |
NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
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Syk |
spleen associated tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33782605 |
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NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410
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Tlr4 |
toll-like receptor 4 |
susceptibility |
ISO |
associated with Behcet Syndrome;DNA:haplotype: : |
RGD |
PMID:19395541 |
RGD:7777177 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Zfp36 |
zinc finger protein 36 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15944294 |
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NCBI chr 1:83,669,084...83,671,564
Ensembl chr 1:83,669,084...83,671,564
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Hgf |
hepatocyte growth factor |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:24387171 |
RGD:8548659 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Vegfa |
vascular endothelial growth factor A |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:24387171 |
RGD:8548659 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Ace |
angiotensin I converting enzyme |
susceptibility |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:22876137 |
RGD:7829800 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21122270 |
RGD:5686891 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Ano6 |
anoctamin 6 |
severity |
ISO |
DNA:SNP: :rs17095830(human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22138694 PMID:23308121 |
RGD:9684849 |
NCBI chr 7:126,933,919...127,113,588
Ensembl chr 7:126,933,936...127,113,589
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Antxr2 |
ANTXR cell adhesion molecule 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20062062 PMID:21743469 |
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NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094
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Aspn |
asporin |
susceptibility |
ISO |
DNA:repeats:exon: |
RGD |
PMID:20144272 |
RGD:9684964 |
NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
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Card9 |
caspase recruitment domain family, member 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21743469 |
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NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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Crp |
C-reactive protein |
disease_progression |
ISO |
protein:increased expression:serum: |
RGD |
PMID:22422197 PMID:6605119 |
RGD:6482308, RGD:9491788 |
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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ISO |
DNA:polymorphism: :4887C>A (human) |
RGD |
PMID:12880680 |
RGD:1581252 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Erap1 |
endoplasmic reticulum aminopeptidase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 |
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NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447
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Fcgr3a |
Fc gamma receptor 3A |
severity |
ISO |
protein:decreased expression:polymorphonuclear leucocyte |
RGD |
PMID:8453794 |
RGD:5508388 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Igfbp3 |
insulin-like growth factor binding protein 3 |
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ISO |
protein:decreased expression:serum |
RGD |
PMID:9851264 |
RGD:10402573 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Il12b |
interleukin 12B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21743469 |
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NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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Il17a |
interleukin 17A |
treatment |
ISO |
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RGD |
PMID:24035250 |
RGD:9068448 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1r2 |
interleukin 1 receptor type 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20062062 |
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NCBI chr 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725
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Il23r |
interleukin 23 receptor |
no_association |
ISO |
DNA:SNPs,haplotype:multiple: CTD Direct Evidence: marker/mechanism DNA:SNP: :rs11209026(human) |
CTD RGD |
PMID:17952073 PMID:20062062 PMID:19522770 PMID:19877036 |
RGD:8549549, RGD:8549630 |
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Il6 |
interleukin 6 |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:26339141 |
RGD:12792209 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irak1 |
interleukin-1 receptor-associated kinase 1 |
susceptibility |
ISO |
DNA:SNP:enhancer: (rs3027898) (human) |
RGD |
PMID:20500689 |
RGD:7495783 |
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Jak2 |
Janus kinase 2 |
susceptibility |
ISO |
DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) |
RGD |
PMID:20627814 |
RGD:6483025 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kdm5a |
lysine demethylase 5A |
susceptibility |
ISO |
DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) |
RGD |
PMID:24069348 |
RGD:9588532 |
NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
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Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:SNP:cds:677C>T (human) |
RGD |
PMID:25060515 |
RGD:42722610 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Pgf |
placental growth factor |
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ISO |
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RGD |
PMID:21873332 |
RGD:6483576 |
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Psmb9 |
proteasome 20S subunit beta 9 |
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ISO |
DNA: snp: rs17587 |
RGD |
PMID:22034108 |
RGD:6483349 |
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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Ptger4 |
prostaglandin E receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21743469 PMID:21743469 |
RGD:6483530 |
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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RT1-Ba |
RT1 class II, locus Ba |
severity |
ISO |
DNA:polymorphism:cds:HLA-DQA1*0401 (human) |
RGD |
PMID:19565552 |
RGD:5147611 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb |
RT1 class II, locus Bb |
severity |
ISO |
DNA:polymorphism:cds:HLA-DQB1*0603 (human) |
RGD |
PMID:19565552 |
RGD:5147611 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-CE13 |
RT1 class I, locus CE13 |
susceptibility |
ISO |
DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian) |
RGD |
PMID:8733445 |
RGD:7364914 |
NCBI chr20:3,314,830...3,318,106
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RT1-Db1 |
RT1 class II, locus Db1 |
severity |
ISO |
DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) |
RGD |
PMID:19565552 |
RGD:5147611 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-M5 |
RT1 class Ib, locus M5 |
no_association |
ISO |
DNA:polymorphisms:cds:HLA-B2705 (human) |
RGD |
PMID:21927904 |
RGD:10755579 |
NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775
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Runx3 |
RUNX family transcription factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21743469 |
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NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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Tap1 |
transporter 1, ATP binding cassette subfamily B member |
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ISO |
DNA:SNPs: : |
RGD |
PMID:19480848 |
RGD:6482250 |
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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Tap2 |
transporter 2, ATP binding cassette subfamily B member |
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ISO |
DNA:SNPs: : |
RGD |
PMID:19480848 |
RGD:6482250 |
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Tbkbp1 |
TBK1 binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21743469 |
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NCBI chr10:82,120,558...82,135,749
Ensembl chr10:82,120,564...82,134,352
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Thbd |
thrombomodulin |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21556780 |
RGD:5684983 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Tlr4 |
toll-like receptor 4 |
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ISO |
mRNA:increased expression:blood cell: |
RGD |
PMID:20952467 |
RGD:7794744 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr5 |
toll-like receptor 5 |
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ISO |
mRNA:increased expression:blood cell: |
RGD |
PMID:20952467 |
RGD:7794744 |
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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Tnfrsf1b |
TNF receptor superfamily member 1B |
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ISO |
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RGD |
PMID:21317434 |
RGD:5131280 |
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Vip |
vasoactive intestinal peptide |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:20340024 |
RGD:5685387 |
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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Ackr1 |
atypical chemokine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,782,396...85,784,015
Ensembl chr13:85,782,398...85,783,983
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Adamts4 |
ADAM metallopeptidase with thrombospondin type 1 motif, 4 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065
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Aim2 |
absent in melanoma 2 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,865,206...85,906,996
Ensembl chr13:85,866,284...85,906,975
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Apcs |
amyloid P component, serum |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,373,219...85,374,195
Ensembl chr13:85,373,220...85,374,298
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Apoa2 |
apolipoprotein A2 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
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Arhgap30 |
Rho GTPase activating protein 30 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,822,290...83,843,634
Ensembl chr13:83,822,283...83,854,885
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Atf6 |
activating transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
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Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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G |
Atp1a4 |
ATPase Na+/K+ transporting subunit alpha 4 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687
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B4galt3 |
beta-1,4-galactosyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,691,378...83,697,448
Ensembl chr13:83,691,446...83,697,448
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G |
C13h1orf226 |
similar to human chromosome 1 open reading frame 226 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:82,530,589...82,538,676
Ensembl chr13:82,530,577...82,820,949
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G |
Cadm3 |
cell adhesion molecule 3 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,784,785...85,817,412
Ensembl chr13:85,786,483...85,817,749
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G |
Casq1 |
calsequestrin 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339
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G |
Cd244 |
CD244 molecule |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,051,339...84,082,864
Ensembl chr13:84,052,493...84,074,492
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G |
Cd48 |
Cd48 molecule |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,184,884...84,209,144
Ensembl chr13:84,185,532...84,209,142
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G |
Cd84 |
CD84 molecule |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,327,580...84,367,153
Ensembl chr13:84,327,553...84,362,076
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G |
Cfap126 |
cilia and flagella associated protein 126 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,526,657...83,542,552
Ensembl chr13:83,526,657...83,542,552
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G |
Cfap45 |
cilia and flagella associated protein 45 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,989,474...85,012,880
Ensembl chr13:84,981,728...85,012,878
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G |
Copa |
COPI coat complex subunit alpha |
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ISO ISS |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome | ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease OMIM:616414 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894502 PMID:27048656 PMID:27577878 PMID:28492532 PMID:29137621 PMID:30804679 PMID:31905480 PMID:32040879 PMID:32778887 PMID:35753512 More...
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NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874
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G |
Crp |
C-reactive protein |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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G |
Dcaf8 |
DDB1 and CUL4 associated factor 8 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,609,838...84,667,025
Ensembl chr13:84,610,248...84,669,726
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G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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G |
Dedd |
death effector domain-containing |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,755,874...83,769,982
Ensembl chr13:83,756,108...83,769,332
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G |
Dusp12 |
dual specificity phosphatase 12 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,122,192...83,131,800
Ensembl chr13:83,122,193...83,131,285
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G |
Dusp23 |
dual specificity phosphatase 23 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,097,899...85,100,054
Ensembl chr13:85,097,899...85,100,093
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G |
F11r |
F11 receptor |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402
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G |
Fcer1a |
Fc epsilon receptor Ia |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,686,099...85,692,394
Ensembl chr13:85,686,092...85,692,351
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G |
Fcer1g |
Fc epsilon receptor Ig |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,649,447...83,654,248
Ensembl chr13:83,649,449...83,671,443
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G |
Fcgr2a |
Fc gamma receptor 2A |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fcgr2b |
Fc gamma receptor 2B |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778
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G |
Fcgr3a |
Fc gamma receptor 3A |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Fcrl6 |
Fc receptor-like 6 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,062,709...85,072,308
Ensembl chr13:85,066,694...85,072,600
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G |
Fcrla |
Fc receptor-like A |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,160,453...83,170,170
Ensembl chr13:83,160,398...83,170,762
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G |
Fcrlb |
Fc receptor-like B |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,148,685...83,157,157
Ensembl chr13:83,149,751...83,155,957
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G |
Hspa6l-ps1 |
heat shock protein family A (Hsp70) member 6 like, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,273,176...83,274,317
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G |
Igsf8 |
immunoglobulin superfamily, member 8 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,770,348...84,781,534
Ensembl chr13:84,770,279...84,778,576
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G |
Igsf9 |
immunoglobulin superfamily, member 9 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,948,643...84,965,616
Ensembl chr13:84,948,619...84,965,607
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G |
Itln1 |
intelectin 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,932,234...83,958,243
Ensembl chr13:83,948,124...83,958,227
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G |
Kcnj10 |
potassium inwardly-rectifying channel, subfamily J, member 10 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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G |
Kcnj9 |
potassium inwardly-rectifying channel, subfamily J, member 9 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,780,826...84,787,928
Ensembl chr13:84,779,741...84,787,928
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G |
Klhdc9 |
kelch domain containing 9 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,790,390...83,794,080
Ensembl chr13:83,790,269...83,793,354
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G |
Ly9 |
lymphocyte antigen 9 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,079,345...84,100,783
Ensembl chr13:84,079,458...84,100,823
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G |
Mnda |
myeloid cell nuclear differentiation antigen |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:86,017,888...86,035,556
Ensembl chr13:86,017,892...86,034,201
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G |
Mpz |
myelin protein zero |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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G |
Ncstn |
nicastrin |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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G |
Ndufs2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
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G |
Nectin4 |
nectin cell adhesion molecule 4 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,802,589...83,821,711
Ensembl chr13:83,803,184...83,821,709
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G |
Nhlh1 |
nescient helix loop helix 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,517,347...84,522,548
Ensembl chr13:84,517,289...84,525,094
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G |
Nit1 |
nitrilase 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,769,888...83,773,324
Ensembl chr13:83,765,941...83,773,332
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G |
Nlrp12 |
NLR family, pyrin domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934
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G |
Nos1ap |
nitric oxide synthase 1 adaptor protein |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:82,547,799...82,820,999
Ensembl chr13:82,530,577...82,820,949
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G |
Nr1i3 |
nuclear receptor subfamily 1, group I, member 3 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906
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G |
Olfml2b |
olfactomedin-like 2B |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:82,869,414...82,906,607
Ensembl chr13:82,869,433...82,906,607
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G |
Or10j2 |
olfactory receptor family 10 subfamily J member 2 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,723,300...85,724,290
Ensembl chr13:85,719,234...85,724,767
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G |
Or10j3 |
olfactory receptor family 10 subfamily J member 3 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,667,254...85,668,195
Ensembl chr13:85,662,666...85,669,540
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G |
Or10j5 |
olfactory receptor family 10 subfamily J member 5 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,430,655...85,431,584
Ensembl chr13:85,424,254...85,432,107
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G |
Or6k2 |
olfactory receptor family 6 subfamily K member 2 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:86,186,442...86,190,391
Ensembl chr13:86,185,529...86,190,815
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G |
Or6k4 |
olfactory receptor family 6 subfamily K member 14B |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:86,164,244...86,165,191
Ensembl chr13:86,160,158...86,166,214
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G |
Or6k6 |
olfactory receptor family 6 subfamily K member 6 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:86,148,402...86,149,325
Ensembl chr13:86,147,303...86,152,153
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G |
Or6n1 |
olfactory receptor family 6 subfamily N member 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:86,106,912...86,107,850
Ensembl chr13:86,102,080...86,108,363
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G |
Or6n2 |
olfactory receptor family 6 subfamily N member 2 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:86,076,857...86,087,100
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G |
Pcp4l1 |
Purkinje cell protein 4-like 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,588,992...83,612,631
Ensembl chr13:83,588,992...83,609,966
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G |
Pea15 |
proliferation and apoptosis adaptor protein 15 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,657,815...84,667,437
Ensembl chr13:84,654,870...84,667,499
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G |
Pex19 |
peroxisomal biogenesis factor 19 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608
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G |
Pfdn2 |
prefoldin subunit 2 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,772,301...83,791,367
Ensembl chr13:83,753,877...83,790,504
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G |
Pigm |
phosphatidylinositol glycan anchor biosynthesis, class M |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,838,329...84,842,026
Ensembl chr13:84,838,175...84,843,381
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G |
Ppox |
protoporphyrinogen oxidase |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
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G |
Sdhc |
succinate dehydrogenase complex subunit C |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
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G |
Sh2d1b |
SH2 domain containing 1B |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:82,485,076...82,519,401
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G |
Slamf1 |
signaling lymphocytic activation molecule family member 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,270,316...84,305,497
Ensembl chr13:84,270,316...84,305,497
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G |
Slamf6 |
SLAM family member 6 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,384,561...84,405,300
Ensembl chr13:84,383,742...84,405,300
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G |
Slamf7 |
SLAM family member 7 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,135,656...84,154,528
Ensembl chr13:84,136,899...84,154,105
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G |
Slamf8 |
SLAM family member 8 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,047,729...85,057,571
Ensembl chr13:85,047,727...85,057,211
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G |
Slamf9 |
SLAM family member 9 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,941,896...84,944,749
Ensembl chr13:84,941,982...84,944,748
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G |
Spata46 |
spermatogenesis associated 46 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,541,183...82,544,808
Ensembl chr13:82,541,183...82,544,808
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G |
Spta1 |
spectrin, alpha, erythrocytic 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
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G |
Tagln2 |
transgelin 2 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,966,980...84,973,973
Ensembl chr13:84,967,009...84,973,972
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G |
Tomm40l |
translocase of outer mitochondrial membrane 40 like |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,636,692...83,641,654
Ensembl chr13:83,638,195...83,641,654
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G |
Tstd1 |
thiosulfate sulfurtransferase like domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,853,421...83,854,875
Ensembl chr13:83,822,035...83,854,885
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G |
Uap1 |
UDP-N-acetylglucosamine pyrophosphorylase 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,342,946...82,377,558
Ensembl chr13:82,342,946...82,377,469
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G |
Ufc1 |
ubiquitin-fold modifier conjugating enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,709,329...83,719,762
Ensembl chr13:83,709,330...83,716,076
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G |
Uhmk1 |
U2AF homology motif kinase 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:82,396,646...82,416,292
Ensembl chr13:82,401,187...82,416,292
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G |
Usf1 |
upstream transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,845,230...83,854,875
Ensembl chr13:83,822,035...83,854,885
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G |
Usp21 |
ubiquitin specific peptidase 21 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,702,672...83,709,215
Ensembl chr13:83,702,631...83,708,717
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G |
Vangl2 |
VANGL planar cell polarity protein 2 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,462,731...84,489,404
Ensembl chr13:84,465,527...84,489,378
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G |
Vsig8 |
V-set and immunoglobulin domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,023,177...85,031,364
Ensembl chr13:85,023,177...85,031,364
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G |
Nlrp1a |
NLR family, pyrin domain containing 1A |
|
ISO |
ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis |
ClinVar OMIM |
PMID:16918630 PMID:17377159 PMID:24033266 PMID:25741868 PMID:27965258 PMID:28492532 PMID:30291141 More...
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NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180
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G |
Umod |
uromodulin |
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ISO |
ClinVar Annotator: match by term: Glomerulocystic kidney disease with hyperuricemia and isosthenuria | ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 | ClinVar Annotator: match by term: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: UMOD-related condition | ClinVar Annotator: match by term: Uromodulin-associated kidney disease |
ClinVar OMIM RGD |
PMID:7396593 PMID:9536098 PMID:10330352 PMID:12205338 PMID:12471200 PMID:12519891 PMID:12629136 PMID:12634862 PMID:14531790 PMID:14569098 PMID:14570709 PMID:15253706 PMID:15589826 PMID:15983957 PMID:16135773 PMID:16883323 PMID:17010121 PMID:17245395 PMID:17576681 PMID:18004297 PMID:19465746 PMID:20151160 PMID:20172860 PMID:20301530 PMID:20472742 PMID:21868615 PMID:22117067 PMID:22693617 PMID:23748428 PMID:23988501 PMID:24961278 PMID:25671765 PMID:25741868 PMID:26467025 PMID:27729211 PMID:27795632 PMID:28492532 PMID:28781372 PMID:28990932 PMID:29100090 PMID:29204651 PMID:29212948 PMID:30099615 PMID:30586318 PMID:30773290 PMID:30976393 PMID:31068150 PMID:31509055 PMID:31822006 PMID:32274456 PMID:32450155 PMID:32926855 PMID:32954071 PMID:33532864 PMID:33574344 PMID:34519781 PMID:35368791 PMID:12471200 More...
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RGD:737832 |
NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
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G |
Ankrd37 |
ankyrin repeat domain 37 |
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ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type |
ClinVar |
PMID:25741868 |
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NCBI chr16:46,268,933...46,271,971
Ensembl chr16:46,268,443...46,271,963
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G |
Cfap96 |
cilia and flagella associated protein 96 |
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ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33473208 |
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NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
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G |
Ufsp2 |
UFM1-specific peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28492532 PMID:28892125 PMID:33473208 More...
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NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
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G |
Cyld |
CYLD lysine 63 deubiquitinase |
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ISO |
ClinVar Annotator: match by term: Blau syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human) DNA:snp:cds:p.E383K (human) DNA:snp:cds:p.E383G (human) DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human) |
OMIM CTD ClinVar RGD |
PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11528384 PMID:11875755 PMID:11910337 PMID:12019468 PMID:12115249 PMID:12202985 PMID:12512038 PMID:12557156 PMID:12577202 PMID:12626759 PMID:12630966 PMID:12650796 PMID:12673278 PMID:12704363 PMID:14508222 PMID:14522785 PMID:14765395 PMID:15002819 PMID:15024686 PMID:15044951 PMID:15086578 PMID:15190267 PMID:15198989 PMID:15320482 PMID:15459013 PMID:15554080 PMID:15571588 PMID:15620648 PMID:15712650 PMID:15770725 PMID:15812565 PMID:15967635 PMID:15998797 PMID:16010583 PMID:16199547 PMID:16278823 PMID:16416181 PMID:16485124 PMID:16669960 PMID:16804397 PMID:17157607 PMID:17207093 PMID:17301648 PMID:17393391 PMID:17489054 PMID:17576681 PMID:17968944 PMID:18056399 PMID:18240302 PMID:18419343 PMID:18489434 PMID:18507017 PMID:18541930 PMID:18718560 PMID:18942754 PMID:18955195 PMID:19103559 PMID:19116920 PMID:19184348 PMID:19184350 PMID:19185283 PMID:19349988 PMID:19397946 PMID:19467619 PMID:19479836 PMID:19479837 PMID:19641059 PMID:19713276 PMID:19748964 PMID:20032092 PMID:20039400 PMID:20047977 PMID:20084402 PMID:20199415 PMID:20230816 PMID:20332463 PMID:20565245 PMID:20713205 PMID:20959815 PMID:21097508 PMID:21274544 PMID:21335489 PMID:21460759 PMID:21548950 PMID:21565239 PMID:21596301 PMID:21745302 PMID:21830272 PMID:21914217 PMID:21951874 PMID:21983784 PMID:21994160 PMID:22275320 PMID:22319155 PMID:22344438 PMID:22377804 PMID:22440928 PMID:22509093 PMID:22543157 PMID:22684479 PMID:22859352 PMID:22926499 PMID:22939045 PMID:22942351 PMID:23102769 PMID:23128233 PMID:23173613 PMID:23334666 PMID:23615072 PMID:23633568 PMID:23709157 PMID:24033266 PMID:24047397 PMID:24345423 PMID:24391456 PMID:24583628 PMID:24586700 PMID:24595243 PMID:24597572 PMID:24713464 PMID:24803813 PMID:24876985 PMID:25093298 PMID:25136265 PMID:25209167 PMID:25365249 PMID:25416713 PMID:25429073 PMID:25741868 PMID:25829188 PMID:26042516 PMID:26070941 PMID:26164256 PMID:26167078 PMID:26316104 PMID:26500656 PMID:26606664 PMID:26768519 PMID:26774591 PMID:27306066 PMID:27339507 PMID:27373512 PMID:27419275 PMID:27625029 PMID:28008999 PMID:28166811 PMID:28422189 PMID:28492532 PMID:28639104 PMID:28658209 PMID:28750667 PMID:28814775 PMID:28836875 PMID:29178652 PMID:29248579 PMID:29321258 PMID:29446656 PMID:29697845 PMID:29795570 PMID:29867916 PMID:30159790 PMID:30166421 PMID:30167848 PMID:30552907 PMID:30553995 PMID:30574935 PMID:30693132 PMID:30783801 PMID:31681265 PMID:32346654 PMID:32463623 PMID:32597225 PMID:32647028 PMID:32707200 PMID:32716958 PMID:33692434 PMID:34251956 PMID:34573280 PMID:19479837 PMID:15812565 PMID:19116920 PMID:11528384 More...
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RGD:8547518, RGD:8547515, RGD:8158051, RGD:8158040 |
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Sall1 |
spalt-like transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Blau syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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G |
Ankh |
ANKH inorganic pyrophosphate transport regulator |
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ISO |
ClinVar Annotator: match by term: Chondrocalcinosis |
ClinVar RGD |
PMID:25741868 PMID:12297987 |
RGD:734570 |
NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187
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G |
Otulin |
OTU deubiquitinase with linear linkage specificity |
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ISO |
ClinVar Annotator: match by term: Chondrocalcinosis |
ClinVar |
PMID:25741868 |
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NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422
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G |
Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:8035395 |
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NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
Ankh |
ANKH inorganic pyrophosphate transport regulator |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ANKH-related condition | ClinVar Annotator: match by term: Chondrocalcinosis 2 |
OMIM CTD ClinVar |
PMID:2712793 PMID:8528213 PMID:9915952 PMID:11326272 PMID:12297987 PMID:12297989 PMID:13130483 PMID:19449425 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32860008 More...
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NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187
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G |
Otulin |
OTU deubiquitinase with linear linkage specificity |
|
ISO |
ClinVar Annotator: match by term: ANKH-related condition | ClinVar Annotator: match by term: Chondrocalcinosis 2 |
ClinVar |
PMID:2712793 PMID:11326272 PMID:19449425 PMID:25741868 PMID:28492532 |
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NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422
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G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISO |
ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21964574 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:29858556 PMID:30230566 PMID:30373780 PMID:39033378 More...
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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G |
A2m |
alpha-2-macroglobulin |
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IEP |
protein:increased expression:serum |
RGD |
PMID:6163339 |
RGD:10046032 |
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
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IEP ISO |
mRNA:altered expression:liver CTD Direct Evidence: marker/mechanism mRNA:decreased expression:intestinal mucosa (rat) |
CTD RGD |
PMID:17827786 PMID:19152228 PMID:17827786 |
RGD:2315573, RGD:11040994 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Abcc6 |
ATP binding cassette subfamily C member 6 |
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IEP |
mRNA:decreased expression:kidney |
RGD |
PMID:22974786 |
RGD:11038789 |
NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
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IEP |
mRNA:decreased expression:small intestine |
RGD |
PMID:19152228 |
RGD:2315573 |
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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G |
Acan |
aggrecan |
treatment |
IEP |
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RGD |
PMID:25821409 |
RGD:12879456 |
NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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G |
Ace |
angiotensin I converting enzyme |
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IEP |
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RGD |
PMID:20213806 |
RGD:2325221 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Acsl1 |
acyl-CoA synthetase long-chain family member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18988084 |
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NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541
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G |
Acsl4 |
acyl-CoA synthetase long-chain family member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18988084 |
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NCBI chr X:105,942,794...106,006,573
Ensembl chr X:105,942,799...106,006,427
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G |
Acsl5 |
acyl-CoA synthetase long-chain family member 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18988084 |
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NCBI chr 1:254,289,513...254,336,608
Ensembl chr 1:254,292,521...254,336,607
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G |
Adam10 |
ADAM metallopeptidase domain 10 |
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IEP |
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RGD |
PMID:23897050 |
RGD:13703039 |
NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
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G |
Adam17 |
ADAM metallopeptidase domain 17 |
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IEP |
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RGD |
PMID:23897050 |
RGD:13703039 |
NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
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IEP ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23326410 PMID:21681567 PMID:19026984 |
RGD:5685385, RGD:5686814 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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G |
Adk |
adenosine kinase |
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IMP |
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RGD |
PMID:11160636 |
RGD:6482663 |
NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
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G |
Ahcy |
adenosylhomocysteinase |
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IDA |
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RGD |
PMID:11123369 |
RGD:1598898 |
NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
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G |
Ahr |
aryl hydrocarbon receptor |
exacerbates |
ISO IDA |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:25194622 PMID:26221077 PMID:27032495 |
RGD:405878089, RGD:407420267 |
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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G |
Akt1 |
AKT serine/threonine kinase 1 |
treatment |
IDA |
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RGD |
PMID:22391142 |
RGD:10041007 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20472598 |
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Alox15 |
arachidonate 15-lipoxygenase |
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ISO |
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RGD |
PMID:19675173 |
RGD:5509599 |
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
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G |
Anxa1 |
annexin A1 |
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IMP ISO |
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RGD |
PMID:10403283 PMID:23267026 |
RGD:2306928, RGD:7421573 |
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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G |
Anxa2 |
annexin A2 |
ameliorates |
IMP |
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RGD |
PMID:24819400 |
RGD:150519886 |
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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G |
Aoc3 |
amine oxidase, copper containing 3 |
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IMP |
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RGD |
PMID:16947396 |
RGD:2313925 |
NCBI chr10:86,272,757...86,280,702
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G |
Apoa4 |
apolipoprotein A4 |
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IEP |
protein:decreased expression:blood serum (rat) |
RGD |
PMID:10892728 |
RGD:5685694 |
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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G |
Arrb1 |
arrestin, beta 1 |
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IEP |
protein:increased expression:knee, synoviocyte (rat) |
RGD |
PMID:20965243 |
RGD:5509895 |
NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061
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G |
Arrb2 |
arrestin, beta 2 |
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IEP |
protein:increased expression:knee, synoviocyte (rat) |
RGD |
PMID:20965243 |
RGD:5509895 |
NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
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G |
Atic |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
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IMP |
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RGD |
PMID:17408934 |
RGD:5144054 |
NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
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G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
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RGD |
PMID:21199477 PMID:22978269 |
RGD:10054249, RGD:10054498 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP |
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RGD |
PMID:21199477 PMID:22978269 |
RGD:10054249, RGD:10054498 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Bdkrb1 |
bradykinin receptor B1 |
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IMP |
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RGD |
PMID:15001555 |
RGD:1625760 |
NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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G |
Bglap |
bone gamma-carboxyglutamate protein |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:21406003 |
RGD:6483549 |
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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G |
Btk |
Bruton tyrosine kinase |
treatment |
IMP |
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RGD |
PMID:22228807 PMID:32083858 |
RGD:11040701, RGD:151665122 |
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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G |
C3 |
complement C3 |
treatment |
ISO IDA |
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RGD |
PMID:20051658 PMID:7347767 |
RGD:7411688, RGD:11041098 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
C5 |
complement C5 |
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ISO IMP |
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RGD |
PMID:20975959 PMID:12355496 |
RGD:5130175, RGD:1600637 |
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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G |
Cabin1 |
calcineurin binding protein 1 |
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ISO |
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RGD |
PMID:22275266 |
RGD:10054391 |
NCBI chr20:12,893,314...13,015,357
Ensembl chr20:12,893,358...13,015,357
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G |
Calca |
calcitonin-related polypeptide alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16690336 |
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NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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G |
Cat |
catalase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22450443 |
|
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Cbl |
Cbl proto-oncogene |
treatment |
IDA |
|
RGD |
PMID:16984225 |
RGD:2306289 |
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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G |
Cblb |
Cbl proto-oncogene B |
|
IMP |
|
RGD |
PMID:16984225 |
RGD:2306289 |
NCBI chr11:48,589,878...48,756,940
Ensembl chr11:48,592,703...48,756,839
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
IMP IDA IEP |
mRNA, protein:increased expression:synovium |
RGD |
PMID:18292571 PMID:24583103 PMID:17052673 PMID:18726678 |
RGD:2307052, RGD:11526142, RGD:2307143, RGD:2307008 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
|
IEP |
mRNA, protein:increased expression:synovium, monocytes |
RGD |
PMID:17052673 |
RGD:2307143 |
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
IMP IEP |
mRNA, protein:increased expression:synovium, monocytes |
RGD |
PMID:9637726 PMID:17052673 |
RGD:4889940, RGD:2307143 |
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
onset |
ISO |
|
RGD |
PMID:17178563 |
RGD:6483780 |
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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G |
Ccn1 |
cellular communication network factor 1 |
ameliorates |
IMP |
|
RGD |
PMID:27653023 |
RGD:150429754 |
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
|
ISO IEP |
|
RGD |
PMID:18608173 PMID:14674010 |
RGD:5688144, RGD:1582346 |
NCBI chr 8:123,556,286...123,561,841
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
IEP |
|
RGD |
PMID:16320322 |
RGD:4144893 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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|
G |
Ccr5 |
C-C motif chemokine receptor 5 |
treatment |
IEP |
mRNA:increased expression:ankle (rat) |
RGD |
PMID:14674010 PMID:22289897 |
RGD:1582346, RGD:5687744 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Cd28 |
Cd28 molecule |
|
IEP |
|
RGD |
PMID:18601859 |
RGD:2307202 |
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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G |
Cd4 |
Cd4 molecule |
treatment |
ISO IMP |
|
RGD |
PMID:15479897 PMID:12010568 |
RGD:10058957, RGD:10058960 |
NCBI chr 4:157,668,878...157,695,366
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G |
Cd40 |
CD40 molecule |
|
ISO |
|
RGD |
PMID:20435931 |
RGD:5490544 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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|
G |
Cd40lg |
CD40 ligand |
treatment |
IDA ISO IEP |
protein:increased expression:plasma (rat) |
RGD |
PMID:27218142 PMID:7689748 PMID:22611405 |
RGD:11344958, RGD:11352696, RGD:11352298 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Cd44 |
CD44 molecule |
|
IEP |
protein:increased expression:joint, macrophage, lymphocyte |
RGD |
PMID:8639178 |
RGD:2289388 |
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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G |
Cd46 |
CD46 molecule |
|
ISO |
|
RGD |
PMID:21852528 |
RGD:6483461 |
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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G |
Cd59b |
CD59b molecule |
|
IDA |
|
RGD |
PMID:14519760 |
RGD:1600483 |
NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
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G |
Cd69 |
Cd69 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12882836 |
|
NCBI chr 4:162,725,446...162,733,364
Ensembl chr 4:162,725,446...162,733,542
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G |
Cd80 |
Cd80 molecule |
|
ISO |
|
RGD |
PMID:22004797 |
RGD:6902903 |
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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G |
Cdc42 |
cell division cycle 42 |
|
ISO |
protein:increased activation:bone marrow, macrophage |
RGD |
PMID:21266780 |
RGD:5688271 |
NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
treatment |
ISO |
|
RGD |
PMID:10395320 |
RGD:8552686 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cfh |
complement factor H |
|
ISO |
|
RGD |
PMID:19828624 |
RGD:5684557 |
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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G |
Col2a1 |
collagen type II alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16200597 PMID:21188452 PMID:23326410 PMID:24709313 PMID:25194622 PMID:25481498 PMID:26070417 PMID:29908986 PMID:29935983 PMID:36181686 More...
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NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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G |
Cp |
ceruloplasmin |
|
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19330884 PMID:19205849 |
RGD:2314686 |
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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G |
Cpox |
coproporphyrinogen oxidase |
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IEP |
protein:decreased activity:liver (rat) |
RGD |
PMID:9173682 |
RGD:1600958 |
NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
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G |
Crhr1 |
corticotropin releasing hormone receptor 1 |
|
IMP |
|
RGD |
PMID:17550594 |
RGD:1626231 |
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
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|
G |
Crp |
C-reactive protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19330884 |
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NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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G |
Csf1 |
colony stimulating factor 1 |
|
IEP |
protein:increased expression:dorsal root ganglion |
RGD |
PMID:32510872 |
RGD:127338469 |
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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G |
Csf1r |
colony stimulating factor 1 receptor |
treatment |
IMP |
|
RGD |
PMID:18434589 |
RGD:151665814 |
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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G |
Csf3 |
colony stimulating factor 3 |
treatment |
ISO |
|
RGD |
PMID:12742377 |
RGD:11039465 |
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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G |
Csk |
C-terminal Src kinase |
|
IMP |
|
RGD |
PMID:10411542 |
RGD:5134371 |
NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292
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|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
treatment |
IMP ISO |
|
RGD |
PMID:22354915 PMID:7543497 |
RGD:7204500, RGD:7204519 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Ctsb |
cathepsin B |
|
IEP |
mRNA:increased expression:knee joint, synovium (rat) |
RGD |
PMID:17195213 |
RGD:2315521 |
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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G |
Ctsk |
cathepsin K |
|
IEP |
mRNA:increased expression:synovium, bone marrow |
RGD |
PMID:15353610 |
RGD:1601025 |
NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
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G |
Ctss |
cathepsin S |
|
ISO |
|
RGD |
PMID:21439785 |
RGD:5686915 |
NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
IEP |
|
RGD |
PMID:11465708 |
RGD:4892002 |
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
IEP |
protein:increased expression:spinal cord |
RGD |
PMID:17123734 PMID:11465708 |
RGD:4891969, RGD:4892002 |
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
|
IEP |
|
RGD |
PMID:19096963 |
RGD:4889415 |
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
severity |
IMP |
|
RGD |
PMID:10358204 |
RGD:5135272 |
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
ameliorates |
ISO |
|
RGD |
PMID:24819400 |
RGD:150519886 |
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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G |
Dhodh |
dihydroorotate dehydrogenase (quinone) |
|
IMP |
|
RGD |
PMID:15182735 |
RGD:2316231 |
NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
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G |
Dnase2 |
deoxyribonuclease 2, lysosomal |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20974942 |
|
NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376
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G |
Dnmt1 |
DNA methyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25194984 |
|
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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|
G |
Drd1 |
dopamine receptor D1 |
treatment |
IEP IDA |
mRNA:increased expression:corpus striatum (rat) |
RGD |
PMID:23762129 PMID:23762129 |
RGD:7248592, RGD:7248592 |
NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
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G |
Drd2 |
dopamine receptor D2 |
treatment |
IEP IDA |
mRNA:increased expression:corpus striatum (rat) |
RGD |
PMID:23762129 PMID:23762129 |
RGD:7248592, RGD:7248592 |
NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
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G |
Edn1 |
endothelin 1 |
|
ISO |
mRNA:increased expression:inguinal lymph node (mouse) |
RGD |
PMID:22249931 |
RGD:8661695 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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|
G |
Egfr |
epidermal growth factor receptor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7589090 |
|
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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|
G |
Esr1 |
estrogen receptor 1 |
treatment |
ISO |
associated with Osteoporosis |
RGD |
PMID:20112355 |
RGD:10045851 |
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
Esr2 |
estrogen receptor 2 |
|
IDA |
|
RGD |
PMID:16269464 |
RGD:5508854 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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G |
F2 |
coagulation factor II, thrombin |
|
ISO |
|
RGD |
PMID:21436072 |
RGD:5147764 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
F2r |
coagulation factor II (thrombin) receptor |
severity |
ISO |
|
RGD |
PMID:19674841 |
RGD:7387269 |
NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870
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G |
F2rl1 |
F2R like trypsin receptor 1 |
|
ISO |
|
RGD |
PMID:12511586 |
RGD:735010 |
NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226
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G |
Faslg |
Fas ligand |
treatment |
IMP |
|
RGD |
PMID:22354915 |
RGD:7204500 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Fcgr1a |
Fc gamma receptor 1A |
|
ISO IEP |
protein:increased expression:dorsal root ganglion CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12875993 PMID:16670289 PMID:32510872 |
RGD:9685708, RGD:127338469 |
NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994
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G |
Fcgr2a |
Fc gamma receptor 2A |
onset |
ISO |
|
RGD |
PMID:18354234 PMID:16623928 |
RGD:5508446, RGD:5508457 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fcgr2b |
Fc gamma receptor 2B |
|
ISO |
|
RGD |
PMID:23341540 |
RGD:11344930 |
NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778
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G |
Fgf8 |
fibroblast growth factor 8 |
|
IMP |
|
RGD |
PMID:18699993 |
RGD:2314157 |
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
|
RGD |
PMID:22833219 |
RGD:10402072 |
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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|
G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
|
ISO |
|
RGD |
PMID:19180491 |
RGD:6483591 |
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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|
G |
Flt3 |
Fms related receptor tyrosine kinase 3 |
|
IAGP |
|
RGD |
PMID:10857786 |
RGD:61066 |
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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|
G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
treatment |
IEP |
|
RGD |
PMID:24186846 |
RGD:405650594 |
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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|
G |
Foxp3 |
forkhead box P3 |
treatment |
IEP |
mRNA,protein:decreased expression:lung |
RGD |
PMID:29264841 PMID:23643080 |
RGD:38549364, RGD:38599003 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
Gja1 |
gap junction protein, alpha 1 |
|
IMP |
|
RGD |
PMID:23165424 |
RGD:7207259 |
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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|
G |
Gli1 |
GLI family zinc finger 1 |
treatment |
IEP |
|
RGD |
PMID:25821409 |
RGD:12879456 |
NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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G |
Gpi |
glucose-6-phosphate isomerase |
|
ISO |
|
RGD |
PMID:23911657 |
RGD:11051957 |
NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
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|
G |
Grk2 |
G protein-coupled receptor kinase 2 |
treatment disease_progression |
IEP |
protein:increased expression:aorta (rat) protein:altered expression:T cell (rat) |
RGD |
PMID:28653218 PMID:28631356 PMID:28349925 |
RGD:13513975, RGD:13513976, RGD:13513979 |
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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G |
Grn |
granulin precursor |
|
ISO |
|
RGD |
PMID:21393509 |
RGD:5509782 |
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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G |
Gsk3b |
glycogen synthase kinase 3 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16713974 |
|
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
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G |
Gusb |
glucuronidase, beta |
treatment |
IEP |
|
RGD |
PMID:827200 |
RGD:42724460 |
NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905
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G |
Havcr2 |
hepatitis A virus cellular receptor 2 |
|
IEP |
mRNA,protein:altered expression:bone: |
RGD |
PMID:25264706 |
RGD:9686117 |
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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G |
Hdac6 |
histone deacetylase 6 |
treatment |
ISO |
|
RGD |
PMID:23541634 |
RGD:9681550 |
NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
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|
G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
treatment |
IDA |
|
RGD |
PMID:21679445 |
RGD:8693318 |
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Hmgb1 |
high mobility group box 1 |
|
IEP |
protein:altered localization:cytoplasm, extracellular matrix |
RGD |
PMID:12384917 |
RGD:728698 |
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
ISO |
|
RGD |
PMID:17119970 |
RGD:5508468 |
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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G |
Hp |
haptoglobin |
|
IEP |
mRNA, protein:increased expression:tendon, ankle protein:increased expression:serum |
RGD |
PMID:12801280 PMID:15899029 |
RGD:1626375, RGD:1626370 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
|
IDA |
|
RGD |
PMID:15529360 PMID:10882416 |
RGD:1624244, RGD:12910542 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G |
Ifng |
interferon gamma |
|
IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19203382 PMID:22450443 PMID:12412757 PMID:7774621 |
RGD:2311498, RGD:10755750 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Igf1 |
insulin-like growth factor 1 |
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IEP |
protein:decreased expression:plasma |
RGD |
PMID:19246225 |
RGD:2306697 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
|
IEP |
mRNA, protein:increased expression:kidney, serum |
RGD |
PMID:14642797 |
RGD:10402760 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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G |
Ikbkb |
inhibitor of nuclear factor kappa B kinase subunit beta |
treatment |
ISO IMP |
|
RGD |
PMID:21087862 PMID:19652024 |
RGD:7495772, RGD:7495778 |
NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
treatment |
IDA |
|
RGD |
PMID:16684367 |
RGD:12791276 |
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G |
Il10 |
interleukin 10 |
treatment |
IEP ISO IDA |
CTD Direct Evidence: marker/mechanism|therapeutic protein:decreased expression:serum: |
CTD RGD |
PMID:20974942 PMID:22450443 PMID:19193354 PMID:19169271 PMID:23140046 PMID:22052031 PMID:15270736 More...
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RGD:2311059, RGD:8662976, RGD:7193038, RGD:7364838, RGD:1626677 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il13 |
interleukin 13 |
treatment |
ISO IMP |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:10444273 PMID:17665443 PMID:11860705 |
RGD:4889497, RGD:8549606 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il15 |
interleukin 15 |
|
ISO |
|
RGD |
PMID:20188418 |
RGD:5000761 |
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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G |
Il17a |
interleukin 17A |
treatment |
IMP ISO IEP IDA |
CTD Direct Evidence: marker/mechanism protein:increased expression:serum (rat) |
CTD RGD |
PMID:20974942 PMID:20925596 PMID:23377547 PMID:21194185 PMID:20925596 |
RGD:4781444, RGD:9130803, RGD:9068936, RGD:4781444 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il18 |
interleukin 18 |
disease_progression |
IEP IMP |
|
RGD |
PMID:19096963 PMID:15147345 |
RGD:4889415, RGD:4889503 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1a |
interleukin 1 alpha |
|
IDA IEP |
protein:increased expression:serum: |
RGD |
PMID:20379758 PMID:19169271 |
RGD:6907373, RGD:8662976 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
treatment |
IDA IEP ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:serum (rat) |
CTD RGD |
PMID:19330884 PMID:20131233 PMID:20974942 PMID:22450443 PMID:21557995 PMID:29408684 PMID:24028507 PMID:23140046 More...
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RGD:7175317, RGD:13792834, RGD:10755447, RGD:7193038 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rl1 |
interleukin 1 receptor-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20472598 |
|
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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G |
Il1rn |
interleukin 1 receptor antagonist |
treatment |
ISO IEP |
rat model treated with human protein human gene in a rat model mRNA:increased expression:popliteal lymph node (rat) mouse model treated with human protein |
RGD |
PMID:15270736 PMID:12727108 PMID:10921508 PMID:22267332 PMID:23006786 |
RGD:1626677, RGD:8551745, RGD:8551741, RGD:8549801, RGD:6907376 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il2 |
interleukin 2 |
treatment |
IEP IDA |
protein:increased expression:serum: |
RGD |
PMID:19169271 PMID:2492102 |
RGD:8662976, RGD:10047055 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il20 |
interleukin 20 |
|
IMP |
|
RGD |
PMID:20722035 |
RGD:5147393 |
NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625
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G |
Il2ra |
interleukin 2 receptor subunit alpha |
|
IDA |
|
RGD |
PMID:17928458 |
RGD:2325988 |
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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G |
Il33 |
interleukin 33 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20472598 |
|
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Il4 |
interleukin 4 |
treatment |
IMP ISO IEP |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:10444273 PMID:16869003 PMID:23972727 PMID:23140046 |
RGD:2317300, RGD:10402790, RGD:7193038 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il6 |
interleukin 6 |
treatment |
IEP ISO IDA IMP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20131233 PMID:20974942 PMID:22450443 PMID:24028507 PMID:8607900 PMID:10381487 PMID:23503893 More...
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RGD:10755447, RGD:11060267, RGD:11049553, RGD:11049551 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Il6st |
interleukin 6 cytokine family signal transducer |
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ISO |
|
RGD |
PMID:20626857 |
RGD:5509945 |
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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G |
Itga4 |
integrin subunit alpha 4 |
treatment |
IMP |
|
RGD |
PMID:12969328 |
RGD:9698440 |
NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
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G |
Itgb2 |
integrin subunit beta 2 |
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IMP |
|
RGD |
PMID:8881759 |
RGD:6482229 |
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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G |
Itgb3 |
integrin subunit beta 3 |
|
IMP |
protein:increased expression:endothelial cell |
RGD |
PMID:16869003 |
RGD:2317300 |
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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G |
Jag1 |
jagged canonical Notch ligand 1 |
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ISO |
|
RGD |
PMID:19265135 |
RGD:6482234 |
NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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G |
Jak1 |
Janus kinase 1 |
treatment |
IMP |
|
RGD |
PMID:29452839 |
RGD:19165139 |
NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
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G |
Jak2 |
Janus kinase 2 |
treatment |
ISO IDA |
|
RGD |
PMID:22339472 PMID:23711144 PMID:22800927 |
RGD:10403066, RGD:10403081, RGD:10403074 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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G |
Jak3 |
Janus kinase 3 |
treatment |
IMP IEP |
|
RGD |
PMID:25762693 PMID:18234077 PMID:21434883 |
RGD:11533938, RGD:11533944, RGD:11533942 |
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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G |
Kcnn4 |
potassium calcium-activated channel subfamily N member 4 |
ameliorates |
ISO |
|
RGD |
PMID:25131209 |
RGD:150521609 |
NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
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G |
Klkb1 |
kallikrein B1 |
|
IMP IEP |
|
RGD |
PMID:22739815 PMID:9783057 |
RGD:7297047, RGD:7327138 |
NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
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G |
Kng2 |
kininogen 2 |
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IEP |
peptidoglycan-polysaccharide-induced arthritis in Lewis rats |
RGD |
PMID:9214434 PMID:1996642 |
RGD:1600547, RGD:11059895 |
NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971
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G |
Kyat1 |
kynurenine aminotransferase 1 |
|
IMP |
|
RGD |
PMID:16984225 |
RGD:2306289 |
NCBI chr 3:13,459,598...13,493,308
Ensembl chr 3:13,459,591...13,493,355
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G |
Lep |
leptin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15142272 |
|
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Lgals3 |
galectin 3 |
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IEP |
|
RGD |
PMID:16507131 |
RGD:1625684 |
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
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G |
Map3k5 |
mitogen-activated protein kinase kinase kinase 5 |
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ISO |
|
RGD |
PMID:16331767 |
RGD:10412332 |
NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800
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G |
Mif |
macrophage migration inhibitory factor |
|
IDA |
|
RGD |
PMID:10765927 |
RGD:1642012 |
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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G |
Mir146a |
microRNA 146a |
|
ISO |
mRNA:increased expression:joints (mouse) |
RGD |
PMID:22660635 |
RGD:155663483 |
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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G |
Mir152 |
microRNA 152 |
|
ISO IEP |
CTD Direct Evidence: marker/mechanism miRNA:decreased exression:synovial membrane of synovial joint |
CTD RGD |
PMID:25194984 PMID:25194984 |
RGD:21066343 |
NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020
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G |
Mir23b |
microRNA 23b |
treatment |
ISO |
mRNA:decreased expression:joint (mouse) |
RGD |
PMID:22660635 PMID:22660635 |
RGD:155663483, RGD:155663483 |
NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763
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G |
Mir26a |
microRNA 26a |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24423102 |
|
NCBI chr 8:118,755,289...118,755,378
Ensembl chr 8:118,755,289...118,755,378
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
IDA IEP |
|
RGD |
PMID:21288455 PMID:24011916 PMID:21108488 |
RGD:7207362, RGD:8549748, RGD:7207365 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp13 |
matrix metallopeptidase 13 |
treatment |
IEP IDA |
|
RGD |
PMID:24244039 PMID:11435459 |
RGD:8694124, RGD:1582329 |
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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G |
Mmp3 |
matrix metallopeptidase 3 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:ankle joint |
CTD RGD |
PMID:20974942 PMID:20703013 PMID:24244039 PMID:24244039 PMID:24011916 PMID:21679445 More...
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RGD:7241231, RGD:8694124, RGD:8694124, RGD:8549748, RGD:8693318 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
IEP |
protein:increased expression:cartilage, serum, synovial fluid |
RGD |
PMID:17463159 |
RGD:1642035 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mpo |
myeloperoxidase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22450443 |
|
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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G |
Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
susceptibility |
ISO |
DNA:transversion: :m.7778G>T (mouse) |
RGD |
PMID:19759059 |
RGD:5490297 |
NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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G |
Mtor |
mechanistic target of rapamycin kinase |
treatment |
IEP |
|
RGD |
PMID:22391142 |
RGD:10041007 |
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
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ISO |
|
RGD |
PMID:20131263 |
RGD:8552884 |
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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G |
Myod1 |
myogenic differentiation 1 |
treatment |
IEP |
|
RGD |
PMID:23781298 |
RGD:9686078 |
NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
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G |
Myog |
myogenin |
treatment |
IDA |
|
RGD |
PMID:23781298 |
RGD:9686078 |
NCBI chr13:45,745,455...45,748,044
Ensembl chr13:45,745,436...45,748,039
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G |
Ncf1 |
neutrophil cytosolic factor 1 |
severity |
IAGP |
DNA:missense mutations:cds:p.M106V, p.M153T (rat) |
RGD |
PMID:12461526 |
RGD:628543 |
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
|
ISO |
|
RGD |
PMID:21424514 PMID:20131263 |
RGD:5508728, RGD:8552884 |
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Nos2 |
nitric oxide synthase 2 |
|
IMP ISO |
protein:increased expression:ankle joint (mouse) |
RGD |
PMID:12826065 PMID:21880869 |
RGD:1358527, RGD:5509060 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Nos3 |
nitric oxide synthase 3 |
treatment |
IEP |
|
RGD |
PMID:29337196 |
RGD:13504725 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Npsr1 |
neuropeptide S receptor 1 |
treatment |
IMP |
|
RGD |
PMID:24884567 |
RGD:9831205 |
NCBI chr 8:22,606,946...22,831,558
Ensembl chr 8:22,606,946...22,831,558
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
severity |
ISO |
|
RGD |
PMID:16905546 |
RGD:11073695 |
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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G |
Nr1h2 |
nuclear receptor subfamily 1, group H, member 2 |
|
ISO |
|
RGD |
PMID:21859686 |
RGD:6480864 |
NCBI chr 1:95,041,967...95,047,358
Ensembl chr 1:95,041,967...95,047,377
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G |
Nr1h3 |
nuclear receptor subfamily 1, group H, member 3 |
|
ISO |
|
RGD |
PMID:21859686 |
RGD:6480864 |
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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G |
Nras |
NRAS proto-oncogene, GTPase |
|
IEP |
|
RGD |
PMID:18706093 |
RGD:2300006 |
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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G |
Nts |
neurotensin |
|
IEP |
|
RGD |
PMID:8518953 |
RGD:9743903 |
NCBI chr 7:37,564,944...37,574,350
Ensembl chr 7:37,564,533...37,574,423
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G |
Orm1 |
orosomucoid 1 |
|
IEP |
protein:increased expression:liver |
RGD |
PMID:16166348 |
RGD:2316639 |
NCBI chr 5:76,766,637...76,776,149
Ensembl chr 5:76,772,941...76,776,154
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G |
P2ry12 |
purinergic receptor P2Y12 |
|
IMP |
|
RGD |
PMID:22028806 |
RGD:6480518 |
NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
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G |
Pam |
peptidylglycine alpha-amidating monooxygenase |
|
IDA |
|
RGD |
PMID:17138865 |
RGD:6483527 |
NCBI chr 9:97,998,581...98,271,966
Ensembl chr 9:98,122,916...98,271,965
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
severity |
ISO |
|
RGD |
PMID:16356201 |
RGD:5684009 |
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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G |
Pdyn |
prodynorphin |
treatment |
IEP |
|
RGD |
PMID:25102697 |
RGD:401851905 |
NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
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|
G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
severity |
ISO |
protein:increased expression:knee joint, blood vessels (mouse) |
RGD |
PMID:22548760 PMID:14613294 PMID:21982514 |
RGD:6484738, RGD:6771222, RGD:6771177 |
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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G |
Pgf |
placental growth factor |
|
ISO |
|
RGD |
PMID:19180491 |
RGD:6483591 |
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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G |
Pik3cd |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta |
|
ISO |
|
RGD |
PMID:18412166 |
RGD:6482696 |
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
|
ISO |
|
RGD |
PMID:20374644 PMID:18412166 |
RGD:6482684, RGD:6482696 |
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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G |
Plau |
plasminogen activator, urokinase |
|
ISO |
|
RGD |
PMID:20973954 |
RGD:6483801 |
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Pomc |
proopiomelanocortin |
treatment |
IEP |
|
RGD |
PMID:25102697 |
RGD:401851905 |
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
Prdm1 |
PR/SET domain 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:36181686 |
|
NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488
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|
G |
Ptch1 |
patched 1 |
treatment |
IEP |
|
RGD |
PMID:25821409 |
RGD:12879456 |
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Ptger4 |
prostaglandin E receptor 4 |
treatment disease_progression |
ISO IEP IMP |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:tarsal joint, synovium (rat) |
CTD RGD |
PMID:18287210 PMID:20423341 PMID:11207665 PMID:18287210 |
RGD:10003041, RGD:10043377, RGD:10003052 |
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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G |
Ptges |
prostaglandin E synthase |
|
IEP |
mRNA, protein:increased expression:paw |
RGD |
PMID:12707354 |
RGD:2300108 |
NCBI chr 3:14,177,892...14,189,236
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G |
Ptges3 |
prostaglandin E synthase 3 |
|
IEP |
mRNA:increased expression:paw (rat) |
RGD |
PMID:12707354 |
RGD:2300108 |
NCBI chr 7:490,698...507,759
Ensembl chr 7:490,656...508,084
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|
G |
Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
|
IEP |
mRNA, protein:increased expression:synovium |
RGD |
PMID:22289897 |
RGD:5687744 |
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
IMP IEP ISO |
mRNA, protein:increased expression:synovium protein:increased expression:autopod joint |
RGD |
PMID:18758904 PMID:22289897 PMID:21765105 |
RGD:2300221, RGD:5687744, RGD:5508310 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Ptpn22 |
protein tyrosine phosphatase, non-receptor type 22 |
|
IEP |
protein:increased expression:metatarsophalangeal joint, mononuclear cell (rat) |
RGD |
PMID:24998229 |
RGD:11532752 |
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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G |
Rag2 |
recombination activating 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20974942 |
|
NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
ISO |
|
RGD |
PMID:21665435 PMID:19950279 |
RGD:5147558, RGD:5147586 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
S100a8 |
S100 calcium binding protein A8 |
|
IEP |
|
RGD |
PMID:8343166 |
RGD:633930 |
NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
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G |
S100a9 |
S100 calcium binding protein A9 |
|
IEP |
|
RGD |
PMID:8343166 |
RGD:633930 |
NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230
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G |
Serpinc1 |
serpin family C member 1 |
|
IEP |
protein:decreased expression:plasma |
RGD |
PMID:22781611 |
RGD:11035273 |
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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|
G |
Sfrp4 |
secreted frizzled-related protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25194984 |
|
NCBI chr17:45,278,867...45,330,806
Ensembl chr17:45,234,097...45,330,736
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G |
Shh |
sonic hedgehog signaling molecule |
treatment |
IEP |
|
RGD |
PMID:25821409 |
RGD:12879456 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Slc11a1 |
solute carrier family 11 member 1 |
severity |
ISO |
|
RGD |
PMID:17122779 |
RGD:5684943 |
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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G |
Slpi |
secretory leukocyte peptidase inhibitor |
treatment |
IEP |
protein:decreased expression:articular cartilage of joint |
RGD |
PMID:10449524 PMID:9744360 |
RGD:634208, RGD:9999431 |
NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
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G |
Smo |
smoothened, frizzled class receptor |
treatment |
IEP |
|
RGD |
PMID:25821409 |
RGD:12879456 |
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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G |
Socs3 |
suppressor of cytokine signaling 3 |
|
IEP |
mRNA:increased expression:mononuclear cell |
RGD |
PMID:16507131 |
RGD:1625684 |
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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G |
Spn |
sialophorin |
|
IMP |
associated with Staphylococcal Infections |
RGD |
PMID:7927732 |
RGD:2303983 |
NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628
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|
G |
Stat1 |
signal transducer and activator of transcription 1 |
|
IDA ISO |
protein:increased tyrosine phosphorylation:macrophage, synovial cell CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15188379 PMID:14674010 |
RGD:1582346 |
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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|
G |
Stat3 |
signal transducer and activator of transcription 3 |
treatment |
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15188379 PMID:21937456 PMID:23711144 |
RGD:10403081 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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G |
Tac1 |
tachykinin, precursor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9259450 |
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NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
IEP |
|
RGD |
PMID:29763498 |
RGD:15036801 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
IEP |
protein:increased expression:synovium |
RGD |
PMID:9010265 |
RGD:1601623 |
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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G |
Thbd |
thrombomodulin |
|
ISO |
|
RGD |
PMID:16879225 |
RGD:5685015 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Timp4 |
TIMP metallopeptidase inhibitor 4 |
|
IMP |
|
RGD |
PMID:12483743 |
RGD:2290463 |
NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
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G |
Tjp1 |
tight junction protein 1 |
|
IEP |
|
RGD |
PMID:18848892 |
RGD:2325138 |
NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
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G |
Tlr2 |
toll-like receptor 2 |
|
IEP ISO |
|
RGD |
PMID:21725847 PMID:20131263 |
RGD:7241099, RGD:8552884 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr3 |
toll-like receptor 3 |
|
IEP IMP |
mRNA, protein:increased expression:spleen (rat) |
RGD |
PMID:20500834 PMID:20500834 |
RGD:5128706, RGD:5128706 |
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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G |
Tnf |
tumor necrosis factor |
treatment |
IDA IEP ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:serum: |
CTD RGD |
PMID:7589090 PMID:9598899 PMID:19203382 PMID:19330884 PMID:19765281 PMID:20131233 PMID:20974942 PMID:21452922 PMID:22450443 PMID:23052485 PMID:29408684 PMID:24028507 PMID:24394943 PMID:19169271 PMID:21690068 PMID:23140046 More...
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RGD:7245941, RGD:13792834, RGD:10755447, RGD:10450611, RGD:8662976, RGD:8661761, RGD:7193038 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
treatment |
IEP ISO |
mRNA:decreased expression:bone Sinomenine CHEBI:9163 CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:23333834 PMID:16696922 PMID:24066131 |
RGD:1624171, RGD:42721982 |
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
treatment |
IDA IEP ISO |
|
RGD |
PMID:23052485 PMID:21690068 PMID:20370892 |
RGD:7245941, RGD:8661761, RGD:8661729 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
treatment |
ISO IEP IDA |
human protein in rat model |
RGD |
PMID:21463515 PMID:21690068 PMID:23052485 |
RGD:5131255, RGD:8661761, RGD:7245941 |
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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G |
Trpv2 |
transient receptor potential cation channel, subfamily V, member 2 |
treatment |
ISO |
|
RGD |
PMID:25869297 |
RGD:9999444 |
NCBI chr10:47,265,524...47,294,263
Ensembl chr10:47,272,931...47,294,260
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G |
Txndc5 |
thioredoxin domain containing 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23326410 |
|
NCBI chr17:26,289,880...26,318,025
Ensembl chr17:26,289,880...26,318,025
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9598899 PMID:26221077 |
|
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Vim |
vimentin |
|
IDA |
|
RGD |
PMID:7516431 |
RGD:6480480 |
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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G |
Vip |
vasoactive intestinal peptide |
|
ISO IDA |
|
RGD |
PMID:21998117 PMID:19055696 |
RGD:5685376, RGD:5685612 |
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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G |
Xdh |
xanthine dehydrogenase |
|
IEP |
protein:increased expression:brain, mitochondrion |
RGD |
PMID:25870945 |
RGD:13208957 |
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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G |
Xylt1 |
xylosyltransferase 1 |
|
IEP |
mRNA:decreased expression:articular cartilage |
RGD |
PMID:19001053 |
RGD:2313142 |
NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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G |
A1cf |
APOBEC1 complementation factor |
|
ISO |
DNA:SNP: :rs10821905 (human) |
RGD |
PMID:28679452 PMID:28252667 |
RGD:13831119, RGD:13831120 |
NCBI chr 1:229,736,037...229,823,499
Ensembl chr 1:229,736,106...229,824,354
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G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
susceptibility |
ISO |
DNA:SNP:exon:rs2231142(human) ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 1 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:16702730 PMID:16784736 PMID:18834626 PMID:19474787 PMID:19506252 PMID:20130569 PMID:20207952 PMID:20368174 PMID:20679960 PMID:21821808 PMID:22112610 PMID:22246505 PMID:22246507 PMID:22992668 PMID:23876492 PMID:23930675 PMID:25630984 PMID:25741868 PMID:28322941 PMID:29751792 PMID:29950617 PMID:31578528 PMID:31857620 PMID:32361904 PMID:19506252 More...
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RGD:13439747 |
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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G |
Adrb3 |
adrenoceptor beta 3 |
|
ISO |
DNA:missense mutation:cds:p.W64R rs4994 (human) |
RGD |
PMID:21285172 |
RGD:5684422 |
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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G |
Aldh16a1 |
aldehyde dehydrogenase 16 family, member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21983786 |
|
NCBI chr 1:95,626,727...95,639,808
Ensembl chr 1:95,613,558...95,640,131
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G |
Alpk1 |
alpha-kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27542954 |
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NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157
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G |
Cd14 |
CD14 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26462562 |
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NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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G |
Dars2 |
aspartyl-tRNA synthetase 2 (mitochondrial) |
|
ISO |
ClinVar Annotator: match by term: Gout |
ClinVar |
PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:24566671 PMID:25525159 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33977142 PMID:34426522 PMID:35379322 More...
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NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
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G |
Hp |
haptoglobin |
|
ISO |
|
RGD |
PMID:7281841 |
RGD:1626362 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26462562 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18403674 |
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NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il33 |
interleukin 33 |
|
ISO |
|
RGD |
PMID:30863362 |
RGD:40400717 |
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
ISO |
N113S, D182H |
RGD |
PMID:8253776 |
RGD:1599725 |
NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
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G |
Slc17a3 |
solute carrier family 17 member 3 |
|
ISO |
ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 4 |
ClinVar OMIM |
PMID:20810651 |
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NCBI chr17:41,270,804...41,300,132
Ensembl chr17:41,270,812...41,295,256
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G |
Slc2a9 |
solute carrier family 2 member 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18327256 PMID:18327257 |
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NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36850003 |
|
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Xdh |
xanthine dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29071757 |
|
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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G |
Mmp2 |
matrix metallopeptidase 2 |
severity |
ISO |
|
RGD |
PMID:14687896 |
RGD:8547877 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO |
|
RGD |
PMID:11796404 |
RGD:7241254 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp9 |
matrix metallopeptidase 9 |
severity |
ISO |
|
RGD |
PMID:14687896 |
RGD:8547877 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:8035395 |
|
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
Esr1 |
estrogen receptor 1 |
no_association |
ISO |
DNA:SNPs:exons: (rs2077647, rs1801132) (human) |
RGD |
PMID:19884274 |
RGD:10045830 |
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
Esr2 |
estrogen receptor 2 |
no_association |
ISO |
DNA:SNPs:introns: (rs1256034, rs1256059, rs944460) (human) |
RGD |
PMID:19884274 |
RGD:10045830 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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G |
Il4 |
interleukin 4 |
no_association |
ISO |
DNA:SNPs:promoter, 5' utr, intron:multiple |
RGD |
PMID:20219689 |
RGD:10402786 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il4r |
interleukin 4 receptor |
no_association |
ISO |
DNA:SNPs:promoter, exons:multiple |
RGD |
PMID:20219689 |
RGD:10402786 |
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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G |
Aldh16a1 |
aldehyde dehydrogenase 16 family, member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23348497 |
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NCBI chr 1:95,626,727...95,639,808
Ensembl chr 1:95,613,558...95,640,131
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G |
Ccdc160 |
coiled-coil domain containing 160 |
|
ISO |
ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
ClinVar |
PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 PMID:28492532 More...
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NCBI chr X:132,468,141...132,478,616
Ensembl chr X:132,468,213...132,478,431
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G |
Gpc3 |
glypican 3 |
|
ISO |
ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
ClinVar |
PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 PMID:28492532 More...
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|
NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798
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G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: HPRT1-Related Disorders | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1301916 PMID:1483694 PMID:1487231 PMID:1551676 PMID:1618489 PMID:1781350 PMID:1840549 PMID:1937471 PMID:2071157 PMID:2246854 PMID:2323782 PMID:2347587 PMID:2358296 PMID:2516172 PMID:2738157 PMID:2896620 PMID:2928313 PMID:3198771 PMID:3358423 PMID:3384338 PMID:6087154 PMID:6204922 PMID:6309910 PMID:6706936 PMID:7987318 PMID:8111415 PMID:8125482 PMID:9288634 PMID:9536098 PMID:9799086 PMID:10518289 PMID:10737990 PMID:10767182 PMID:11018746 PMID:11068166 PMID:11891689 PMID:15386453 PMID:15505382 PMID:15571220 PMID:16199547 PMID:16549399 PMID:17027311 PMID:17454734 PMID:17483691 PMID:17576681 PMID:18600506 PMID:18779430 PMID:19016344 PMID:20176575 PMID:20638392 PMID:20981450 PMID:22132984 PMID:22157001 PMID:22999896 PMID:23348497 PMID:23597535 PMID:23975452 PMID:25136576 PMID:25481104 PMID:25741868 PMID:27288985 PMID:28045594 PMID:28492532 PMID:29185864 More...
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NCBI chr X:132,736,175...132,768,149
Ensembl chr X:132,736,096...132,768,154
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Mir106a |
microRNA 106a |
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ISO |
ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
ClinVar |
PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 PMID:28492532 More...
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NCBI chr X:132,422,584...132,422,661
Ensembl chr X:132,422,584...132,422,661
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Mir19b2 |
microRNA 19b-2 |
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ISO |
ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
ClinVar |
PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 PMID:28492532 More...
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NCBI chr X:132,422,072...132,422,167
Ensembl chr X:132,422,072...132,422,167
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Phf6 |
PHD finger protein 6 |
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ISO |
ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
ClinVar |
PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 PMID:28492532 More...
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NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphism: :HLA-DRB1*1104, HLA-DRB1*080(human) |
RGD |
PMID:7955632 |
RGD:7365102 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Acp3 |
acid phosphatase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 8:104,905,570...104,956,146
Ensembl chr 8:104,905,586...104,954,236
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Acrbp |
acrosin binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213
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Adcy7 |
adenylate cyclase 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr19:18,740,875...18,798,924
Ensembl chr19:18,740,875...18,776,311
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Alox12 |
arachidonate 12-lipoxygenase, 12S type |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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Ankrd9 |
ankyrin repeat domain 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 6:130,001,914...130,008,792
Ensembl chr 6:129,998,486...130,008,923
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Aopep |
aminopeptidase O |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331
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Aqp9 |
aquaporin 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395
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Areg |
amphiregulin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
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Asap1 |
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 7:95,786,130...96,093,111
Ensembl chr 7:95,787,818...96,092,754
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Avl9 |
AVL9 cell migration associated |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:85,961,493...86,008,347
Ensembl chr 4:85,961,635...86,008,791
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B4galt5 |
beta-1,4-galactosyltransferase 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 3:156,018,056...156,033,983
Ensembl chr 3:156,018,053...156,070,074
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Bend2 |
BEN domain containing 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr X:33,401,122...33,465,427
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Bltp3b |
bridge-like lipid transfer protein family member 3B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 7:24,181,635...24,261,720
Ensembl chr 7:24,181,644...24,261,720
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Btg1 |
BTG anti-proliferation factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649
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Btg3 |
BTG anti-proliferation factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr11:17,030,156...17,046,069
Ensembl chr11:17,030,160...17,046,170
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C8b |
complement C8 beta chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7980680 |
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NCBI chr 5:119,535,009...119,572,565
Ensembl chr 5:119,535,146...119,572,565
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C9h2orf88 |
similar to human chromosome 2 open reading frame 88 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 9:48,539,140...48,584,882
Ensembl chr 9:48,568,409...48,584,831
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Cald1 |
caldesmon 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:63,265,781...63,446,938
Ensembl chr 4:63,265,942...63,446,932
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Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072
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Ccdc122 |
coiled-coil domain containing 122 |
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ISO |
ClinVar Annotator: match by term: JUVENILE ARTHRITIS |
ClinVar |
PMID:25741868 |
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NCBI chr15:52,407,717...52,470,163
Ensembl chr15:52,407,717...52,470,163
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Ccr5 |
C-C motif chemokine receptor 5 |
no_association |
ISO |
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) DNA:polymorphisms: :multiple (human) |
RGD |
PMID:17565662 PMID:16775617 |
RGD:1626283, RGD:1626284 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd14 |
CD14 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cd83 |
CD83 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr17:20,887,309...20,907,009
Ensembl chr17:20,887,309...20,907,083
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Cd8b |
CD8 subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:103,312,596...103,328,523
Ensembl chr 4:103,312,578...103,328,553
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Ciita |
class II, major histocompatibility complex, transactivator |
susceptibility no_association |
ISO |
DNA:polymorphism:exon:1614G>C (human) DNA:polymorphism:promoter:rs3087456, no association in a German cohort (Human) |
RGD |
PMID:17661914 PMID:16426246 |
RGD:5491187, RGD:5491189 |
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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Clu |
clusterin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Cmtm2b |
CKLF-like MARVEL transmembrane domain containing 2B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr19:640,838...651,872
Ensembl chr19:640,824...651,939
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Crem |
cAMP responsive element modulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr17:54,238,889...54,305,989
Ensembl chr17:54,239,030...54,305,989
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Crp |
C-reactive protein |
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ISO |
protein:increased expression:serum |
RGD |
PMID:22885951 |
RGD:6906884 |
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cttn |
cortactin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 1:199,599,710...199,635,254
Ensembl chr 1:199,599,710...199,635,164
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Cxcl1 |
C-X-C motif chemokine ligand 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Cxcl3 |
C-X-C motif chemokine ligand 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
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Cxcr2 |
C-X-C motif chemokine receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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Cxcr4 |
C-X-C motif chemokine receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 PMID:26387944 |
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NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Dapk1 |
death associated protein kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
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Ddit3 |
DNA-damage inducible transcript 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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Dusp1 |
dual specificity phosphatase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr10:16,680,478...16,683,275
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Dusp2 |
dual specificity phosphatase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 3:114,556,325...114,558,510
Ensembl chr 3:114,556,325...114,558,499
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Dusp4 |
dual specificity phosphatase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr16:57,376,659...57,398,161
Ensembl chr16:57,377,229...57,398,138
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Dysf |
dysferlin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
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Egf |
epidermal growth factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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Egr1 |
early growth response 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Elf2 |
E74 like ETS transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 2:135,292,291...135,385,942
Ensembl chr 2:135,294,906...135,385,947
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Etnk1 |
ethanolamine kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:176,126,056...176,170,325
Ensembl chr 4:176,126,180...176,193,770
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Etv6 |
ETS variant transcription factor 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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Fam20a |
FAM20A, golgi associated secretory pathway pseudokinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
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Faxdc2 |
fatty acid hydroxylase domain containing 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr10:42,245,808...42,271,679
Ensembl chr10:42,246,868...42,271,871
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Fcgr1a |
Fc gamma receptor 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994
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Fchsd2 |
FCH and double SH3 domains 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 1:155,444,471...155,685,350
Ensembl chr 1:155,444,460...155,685,539
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Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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Fosb |
FosB proto-oncogene, AP-1 transcription factor subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 1:78,954,312...78,961,492
Ensembl chr 1:78,954,115...78,961,465
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Fosl2 |
FOS like 2, AP-1 transcription factor subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034
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Foxp1 |
forkhead box P1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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Gadd45a |
growth arrest and DNA-damage-inducible, alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:96,154,789...96,157,091
Ensembl chr 4:96,154,789...96,157,115
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Gmpr |
guanosine monophosphate reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621
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Gng11 |
G protein subunit gamma 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:32,023,003...32,028,443
Ensembl chr 4:32,023,003...32,028,442
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Gp1bb |
glycoprotein Ib platelet subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
DNA:deletion: : |
RGD |
PMID:18328165 |
RGD:5490992 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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H2bc8 |
H2B clustered histone 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr17:42,708,658...42,709,408
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Hbegf |
heparin-binding EGF-like growth factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441
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Herpud2 |
HERPUD family member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 8:23,573,374...23,618,380
Ensembl chr 8:23,573,379...23,617,874
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Hfe |
homeostatic iron regulator |
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ISO |
DNA:missense mutation:cds:p.C282Y (human) |
RGD |
PMID:16047841 |
RGD:8694357 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hist1h2af |
histone cluster 1 H2A family member F |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr17:41,379,404...41,379,796
Ensembl chr17:41,379,404...41,379,796
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Hspa6l-ps1 |
heat shock protein family A (Hsp70) member 6 like, pseudogene 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr13:83,273,176...83,274,317
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Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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ISO |
protein:increased expression:serum,synovial fluid: |
RGD |
PMID:8255671 |
RGD:12910480 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Igf1r |
insulin-like growth factor 1 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Il1a |
interleukin 1 alpha |
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ISO |
DNA:SNP:promoter:-889C>T (human) |
RGD |
PMID:8162643 |
RGD:7794716 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1rn |
interleukin 1 receptor antagonist |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il2 |
interleukin 2 |
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ISO |
protein:increased expression:mononuclear cell |
RGD |
PMID:21859687 |
RGD:5147870 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il6 |
interleukin 6 |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:9489833 |
RGD:7829742 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Itga2b |
integrin subunit alpha 2b |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
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Itgb5 |
integrin subunit beta 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472
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Jmjd1c |
jumonji domain containing 1C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122
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Jun |
Jun proto-oncogene, AP-1 transcription factor subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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Kat6b |
lysine acetyltransferase 6B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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Kcnj15 |
potassium inwardly-rectifying channel, subfamily J, member 15 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr11:34,577,397...34,621,725
Ensembl chr11:34,577,363...34,621,952
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Klf4 |
KLF transcription factor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 5:70,278,843...70,283,751
Ensembl chr 5:70,278,972...70,283,602
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Kras |
KRAS proto-oncogene, GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:178,185,418...178,218,484
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Lacc1 |
laccase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: JUVENILE ARTHRITIS |
OMIM ClinVar |
PMID:25147203 PMID:25220867 PMID:25741868 PMID:27881174 PMID:29717096 PMID:31811059 More...
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NCBI chr15:52,390,267...52,407,630
Ensembl chr15:52,395,183...52,407,545
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Lilra5 |
leukocyte immunoglobulin like receptor A5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 1:69,973,292...69,978,750
Ensembl chr 1:69,973,292...70,001,718
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G |
Lpp |
LIM domain containing preferred translocation partner in lipoma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr11:75,787,326...76,426,646
Ensembl chr11:75,797,078...76,422,597
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G |
Mad1l1 |
mitotic arrest deficient 1 like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr12:14,320,892...14,630,750
Ensembl chr12:14,320,892...14,630,703
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G |
Maff |
MAF bZIP transcription factor F |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 7:110,912,367...110,923,711
Ensembl chr 7:110,912,499...110,923,851
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G |
Maml2 |
mastermind-like transcriptional coactivator 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 8:10,268,611...10,588,307
Ensembl chr 8:10,268,665...10,587,107
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Map2 |
microtubule-associated protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
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G |
Mapk1 |
mitogen activated protein kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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G |
Mbl2 |
mannose binding lectin 2 |
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ISO |
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RGD |
PMID:18334024 |
RGD:12910845 |
NCBI chr 1:228,016,439...228,024,736
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Mex3c |
mex-3 RNA binding family member C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr18:67,167,600...67,188,595
Ensembl chr18:67,166,718...67,188,595
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G |
Ms4a4a |
membrane spanning 4-domains A4A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 1:208,060,507...208,085,121
Ensembl chr 1:208,046,971...208,085,119
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G |
Msn |
moesin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr X:60,996,043...61,064,011
Ensembl chr X:60,995,951...61,065,628
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G |
Mtss1 |
MTSS I-BAR domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 7:90,488,751...90,628,007
Ensembl chr 7:90,488,754...90,627,968
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G |
Myzap |
myocardial zonula adherens protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 8:72,155,817...72,243,036
Ensembl chr 8:72,131,530...72,243,036
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G |
Ndel1 |
nudE neurodevelopment protein 1-like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr10:53,505,628...53,582,025
Ensembl chr10:53,516,491...53,570,907
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G |
Nr4a2 |
nuclear receptor subfamily 4, group A, member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877
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G |
Nr4a3 |
nuclear receptor subfamily 4, group A, member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733
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G |
Nrg1 |
neuregulin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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G |
Olr1 |
oxidized low density lipoprotein receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523
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G |
Osm |
oncostatin M |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr14:79,103,638...79,108,500
Ensembl chr14:79,104,344...79,108,313
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G |
Pacsin2 |
protein kinase C and casein kinase substrate in neurons 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 7:114,505,525...114,599,087
Ensembl chr 7:114,505,152...114,598,546
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G |
Pcyt1b |
phosphate cytidylyltransferase 1B, choline |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr X:58,378,090...58,471,623
Ensembl chr X:58,378,116...58,468,935
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G |
Per1 |
period circadian regulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
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G |
Pgm5 |
phosphoglucomutase 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 1:222,325,638...222,513,434
Ensembl chr 1:222,325,643...222,513,437
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G |
Plaur |
plasminogen activator, urokinase receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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G |
Plk2 |
polo-like kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 2:41,969,176...41,974,945
Ensembl chr 2:41,969,176...41,974,947
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G |
Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
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G |
Pros1 |
protein S |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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G |
Ptpn22 |
protein tyrosine phosphatase, non-receptor type 22 |
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ISO |
DNA: snp : cds : rs2476601 |
RGD |
PMID:15934099 |
RGD:6484550 |
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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G |
R3hdm2 |
R3H domain containing 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 7:63,212,519...63,340,574
Ensembl chr 7:63,232,346...63,340,540
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G |
Rasgef1b |
RasGEF domain family, member 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr14:9,859,512...10,380,044
Ensembl chr14:9,860,247...10,379,741
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G |
Rbm47 |
RNA binding motif protein 47 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr14:42,053,290...42,191,572
Ensembl chr14:42,154,142...42,189,431
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G |
Rere |
arginine-glutamic acid dipeptide repeats |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 5:160,765,855...161,097,678
Ensembl chr 5:160,765,934...161,097,677
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G |
RGD1359108 |
similar to RIKEN cDNA 3110043O21 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408
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G |
Rhobtb1 |
Rho-related BTB domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr20:19,327,142...19,456,121
Ensembl chr20:19,327,155...19,403,012
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G |
Rnf103 |
ring finger protein 103 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:103,526,456...103,542,529
Ensembl chr 4:103,526,502...103,555,919
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G |
RT1-Ba |
RT1 class II, locus Ba |
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ISO |
DNA:polymorphism (human) |
RGD |
PMID:19811310 PMID:10457895 |
RGD:5147815, RGD:5147863 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
RT1-Bb |
RT1 class II, locus Bb |
|
ISO |
DNA:polymorphism (human) |
RGD |
PMID:10457895 |
RGD:5147863 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
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ISO |
DNA:polymorphism (human) |
RGD |
PMID:19908388 PMID:10457895 |
RGD:5147587, RGD:5147863 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Selp |
selectin P |
severity |
ISO |
protein:increased expression:plasma |
RGD |
PMID:21124648 |
RGD:6219006 |
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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G |
Sh2d2a |
SH2 domain containing 2A |
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ISO |
|
RGD |
PMID:15129233 |
RGD:2298870 |
NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810
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G |
Sh3bgrl2 |
SH3 domain binding glutamate-rich protein like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 8:84,461,019...84,553,124
Ensembl chr 8:84,461,121...84,551,564
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G |
Sik1 |
salt-inducible kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
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Sipa1l1 |
signal-induced proliferation-associated 1 like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 6:101,839,351...102,118,408
Ensembl chr 6:101,839,404...102,116,950
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G |
Slc11a1 |
solute carrier family 11 member 1 |
|
ISO |
DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16597321 PMID:10857800 |
RGD:5684977 |
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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G |
Slc22a16 |
solute carrier family 22 member 16 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr20:43,972,808...44,068,447
Ensembl chr20:43,972,836...44,065,019
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G |
Slc26a2 |
solute carrier family 26 member 2 |
susceptibility |
ISO |
DNA:SNPs: : |
RGD |
PMID:17393463 |
RGD:13208931 |
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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G |
Slc2a3 |
solute carrier family 2 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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G |
Smad3 |
SMAD family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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G |
Stab1 |
stabilin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr16:6,330,435...6,360,934
Ensembl chr16:6,330,444...6,360,923
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Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stim1 |
stromal interaction molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
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G |
Tcf7l2 |
transcription factor 7 like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:254,785,956...254,978,967
Ensembl chr 1:254,786,091...254,978,967
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G |
Tfdp1 |
transcription factor Dp-1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr16:76,162,040...76,200,871
Ensembl chr16:76,162,043...76,200,817
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Tfpi |
tissue factor pathway inhibitor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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G |
Thbd |
thrombomodulin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:15209962 |
RGD:5685023 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Thbs1 |
thrombospondin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
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G |
Tnfaip6 |
TNF alpha induced protein 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
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G |
Tnfaip8 |
TNF alpha induced protein 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr18:43,183,854...43,299,512
Ensembl chr18:43,183,916...43,299,517
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G |
Tnfrsf22 |
tumor necrosis factor receptor superfamily, member 22 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:198,840,452...198,860,713
Ensembl chr 1:198,840,453...198,856,309
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G |
Tnik |
TRAF2 and NCK interacting kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 2:111,184,352...111,587,993
Ensembl chr 2:111,184,387...111,580,750
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G |
Treml1 |
triggering receptor expressed on myeloid cells-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 9:12,635,584...12,642,324
Ensembl chr 9:12,635,590...12,642,347
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G |
Ttll5 |
tubulin tyrosine ligase like 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934
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G |
Tubb2a |
tubulin, beta 2A class IIa |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714
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G |
Ube2e1 |
ubiquitin-conjugating enzyme E2E 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr15:7,439,751...7,493,410
Ensembl chr15:7,439,759...7,493,400
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G |
Ube3c |
ubiquitin protein ligase E3C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:5,648,932...5,749,922
Ensembl chr 4:5,648,690...5,750,011
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G |
Wasf3 |
WASP family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr12:8,563,805...8,660,799
Ensembl chr12:8,562,062...8,660,751
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G |
Wwox |
WW domain-containing oxidoreductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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G |
Zfand3 |
zinc finger AN1-type containing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr20:8,083,407...8,279,617
Ensembl chr20:8,082,200...8,279,616
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|
G |
Zfc3h1 |
zinc finger, C3H1-type containing |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 7:51,008,251...51,064,666
Ensembl chr 7:51,007,984...51,064,661
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G |
Anxa2 |
annexin A2 |
disease_progression |
ISO |
protein:increased expression:chondrocyte: |
RGD |
PMID:10903884 |
RGD:10053727 |
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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|
G |
Anxa5 |
annexin A5 |
disease_progression |
ISO |
protein:increased expression:chondrocyte: |
RGD |
PMID:10903884 |
RGD:10053727 |
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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|
G |
Ar |
androgen receptor |
|
ISO |
DNA:repeat:exon:c.172(CAG)8-34 (human) |
RGD |
PMID:16098017 |
RGD:10043199 |
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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|
G |
Aspn |
asporin |
severity |
ISO |
mRNA:increased expression:cartilage: DNA:repeats:exon: |
RGD |
PMID:15640800 PMID:15640800 |
RGD:9684965, RGD:9684965 |
NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
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|
G |
B2m |
beta-2 microglobulin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:18795399 |
RGD:6482710 |
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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|
G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
|
RGD |
PMID:20131282 |
RGD:6907382 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP |
|
RGD |
PMID:20131282 |
RGD:6907382 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Bglap |
bone gamma-carboxyglutamate protein |
|
ISO IDA |
|
RGD |
PMID:22294259 PMID:21387139 |
RGD:6483563, RGD:6483595 |
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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|
G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
mRNA,protein:increased expression:dorsal root ganglion: |
RGD |
PMID:23185004 |
RGD:8661785 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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|
G |
Cd36 |
CD36 molecule |
disease_progression |
ISO IEP |
|
RGD |
PMID:21765106 PMID:19342682 |
RGD:6893494, RGD:6893565 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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|
G |
Ctnnb1 |
catenin beta 1 |
|
IEP |
protein:increased expression:cartilage: |
RGD |
PMID:22702043 |
RGD:10395278 |
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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|
G |
Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
|
ISO |
DNA:SNP:intron, 5' utr: (rs1062033) (human) |
RGD |
PMID:20417295 |
RGD:10045662 |
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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|
G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
ameliorates |
IEP |
|
RGD |
PMID:31258642 |
RGD:150519887 |
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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|
G |
Dgat2 |
diacylglycerol O-acyltransferase 2 |
severity |
ISO |
mRNA,protein:increased expression:fat pad: |
RGD |
PMID:21765106 |
RGD:6893494 |
NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
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G |
Dkk1 |
dickkopf WNT signaling pathway inhibitor 1 |
|
IMP |
|
RGD |
PMID:20131282 |
RGD:6907382 |
NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202
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|
G |
Eef1a1 |
eukaryotic translation elongation factor 1 alpha 1 |
|
IEP |
|
RGD |
PMID:25435813 |
RGD:13506963 |
NCBI chr 8:79,341,554...79,344,784
Ensembl chr 8:79,341,557...79,344,839
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|
G |
Efemp1 |
EGF containing fibulin extracellular matrix protein 1 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:22275171 |
RGD:10401792 |
NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
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|
G |
Epas1 |
endothelial PAS domain protein 1 |
no_association |
ISO |
DNA:SNP:5' utr: (rs17039192) (human) |
RGD |
PMID:22247019 PMID:20495570 |
RGD:10395367, RGD:10395368 |
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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G |
Epo |
erythropoietin |
treatment |
ISO |
|
RGD |
PMID:25422652 |
RGD:10400892 |
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
Esr1 |
estrogen receptor 1 |
|
ISO |
DNA:repeat:promoter:-1174(TA)9-25 (human) DNA:polymorphisms, haplotype:intron, exon DNA:SNP:cds:c.1782G>A (rs2228480) (human) DNA:SNPs:intron: (rs2234693, rs9340799) (human) |
RGD |
PMID:16098017 PMID:15380041 PMID:20128071 PMID:24772413 |
RGD:10043199, RGD:10045840, RGD:10045835, RGD:10045829 |
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
Esr2 |
estrogen receptor 2 |
|
ISO |
DNA:repeat:intron:c.1092+3607(CA)13-27 (human) |
RGD |
PMID:16098017 |
RGD:10043199 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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|
G |
F2 |
coagulation factor II, thrombin |
|
ISO |
|
RGD |
PMID:21041276 |
RGD:5147774 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
treatment |
ISO |
|
RGD |
PMID:27159076 |
RGD:11568056 |
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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|
G |
Gdf5 |
growth differentiation factor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30374069 |
|
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
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|
G |
Gsr |
glutathione-disulfide reductase |
|
ISO |
protein:increased expression:synovial fluid |
RGD |
PMID:16289733 |
RGD:10401830 |
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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|
G |
Hmgb1 |
high mobility group box 1 |
severity |
ISO |
protein:increased expression:synovial fluid mRNA:decreased expression:articular cartilage |
RGD |
PMID:21968272 PMID:19139395 |
RGD:10402061, RGD:10402184 |
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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G |
Hmgb2 |
high mobility group box 2 |
severity |
ISO |
mRNA:decreased expression:articular cartilage |
RGD |
PMID:19139395 PMID:19139395 |
RGD:10402184, RGD:10402184 |
NCBI chr16:32,710,651...32,713,230
Ensembl chr16:32,710,658...32,713,140
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G |
Hsp90aa1 |
heat shock protein 90 alpha family class A member 1 |
|
ISO |
mRNA:increased expression:tibial plateaux (mouse) mRNA:decreased expression:blood (human) |
RGD |
PMID:9497939 PMID:16139532 |
RGD:10412655, RGD:10429075 |
NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
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|
G |
Igf1 |
insulin-like growth factor 1 |
disease_progression severity |
ISO IEP |
protein:decreased expression:plasma (rat) mRNA:increased expression:meniscus: |
RGD |
PMID:8461919 PMID:17133593 PMID:9497937 PMID:20633672 |
RGD:10045862, RGD:10003130, RGD:10046057, RGD:10045868 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Igf1r |
insulin-like growth factor 1 receptor |
|
ISO |
|
RGD |
PMID:8948288 |
RGD:10045874 |
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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|
G |
Il1a |
interleukin 1 alpha |
|
IEP ISO |
protein:increased expression:cartilage cell: |
RGD |
PMID:24534736 PMID:9497937 PMID:9034998 |
RGD:10045944, RGD:10046057, RGD:10045946 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il2 |
interleukin 2 |
severity |
ISO |
protein:increased expression:synovial fluid: |
RGD |
PMID:22035391 |
RGD:5687147 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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|
G |
Il4 |
interleukin 4 |
susceptibility |
IDA ISO |
DNA:repeat:intron: (rs8179190) (human) |
RGD |
PMID:18182309 PMID:24406619 |
RGD:2317291, RGD:10402787 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Kl |
Klotho |
susceptibility |
ISO |
DNA:SNPs:promoter,exon:395G>A,2998C>T(human) |
RGD |
PMID:18465812 |
RGD:10403041 |
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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G |
Lep |
leptin |
|
ISO |
protein:decreased expression:serum: |
RGD |
PMID:23575542 |
RGD:10411887 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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|
G |
Lepr |
leptin receptor |
susceptibility |
ISO |
protein:increased expression:serum: DNA:SNP:cds:668A>G(human) |
RGD |
PMID:23575542 PMID:23575542 |
RGD:10411887, RGD:10411887 |
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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|
G |
Lpar1 |
lysophosphatidic acid receptor 1 |
susceptibility |
ISO |
DNA:snp:promoter:g.-2820G>A (rs10980705) (human) |
RGD |
PMID:18325907 |
RGD:10054291 |
NCBI chr 5:73,229,047...73,347,874
Ensembl chr 5:73,229,625...73,369,895
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|
G |
Ltbp1 |
latent transforming growth factor beta binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30374069 |
|
NCBI chr 6:20,029,629...20,425,339
Ensembl chr 6:20,029,629...20,425,349
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|
G |
Mir219a1 |
microRNA 219a-1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:35962723 |
|
NCBI chr20:4,829,687...4,829,796
Ensembl chr20:4,829,687...4,829,796
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|
G |
Mir223 |
microRNA 223 |
|
IEP |
RNA:increased expression:synovial membrane |
RGD |
PMID:30106113 |
RGD:25824950 |
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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|
G |
Mmp1 |
matrix metallopeptidase 1 |
treatment |
IEP |
|
RGD |
PMID:21167838 |
RGD:8549737 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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|
G |
Mmp13 |
matrix metallopeptidase 13 |
ameliorates |
IEP |
|
RGD |
PMID:31258642 |
RGD:150519887 |
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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|
G |
Mmp3 |
matrix metallopeptidase 3 |
treatment |
IMP |
|
RGD |
PMID:22114772 |
RGD:8694098 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Penk |
proenkephalin |
treatment |
IEP |
|
RGD |
PMID:21928671 |
RGD:10003115 |
NCBI chr 5:17,183,799...17,189,160
Ensembl chr 5:17,183,806...17,189,129
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G |
Ptges |
prostaglandin E synthase |
|
IEP |
|
RGD |
PMID:17530714 |
RGD:2300093 |
NCBI chr 3:14,177,892...14,189,236
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G |
Sbno1 |
strawberry notch homolog 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30374069 |
|
NCBI chr12:32,175,176...32,234,200
Ensembl chr12:32,185,485...32,230,158
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G |
Slc26a2 |
solute carrier family 26 member 2 |
susceptibility |
ISO |
DNA:deletion:promoter:-716_-713del4A(human) |
RGD |
PMID:11558903 |
RGD:13208866 |
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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G |
Tgfa |
transforming growth factor alpha |
|
IEP |
protein:increased expression:cartilage |
RGD |
PMID:17968906 |
RGD:2317486 |
NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
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G |
Vdr |
vitamin D receptor |
|
ISO |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Wwp2 |
WW domain containing E3 ubiquitin protein ligase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30374069 |
|
NCBI chr19:35,346,826...35,471,251
Ensembl chr19:35,346,814...35,472,699
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|
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G |
Acaa2 |
acetyl-CoA acyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249
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G |
Acan |
aggrecan |
treatment |
ISO IEP |
|
RGD |
PMID:22833446 PMID:21853458 |
RGD:11570535, RGD:11570544 |
NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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G |
Aco1 |
aconitase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 5:55,259,841...55,315,872
Ensembl chr 5:55,259,827...55,316,391
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G |
Actb |
actin, beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
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G |
Adam12 |
ADAM metallopeptidase domain 12 |
susceptibility |
ISO |
|
RGD |
PMID:15334463 |
RGD:1625347 |
NCBI chr 1:188,686,984...189,014,206
Ensembl chr 1:188,686,989...189,020,667
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G |
Adam15 |
ADAM metallopeptidase domain 15 |
|
ISO |
|
RGD |
PMID:15818704 |
RGD:1559176 |
NCBI chr 2:174,754,629...174,765,136
Ensembl chr 2:174,754,633...174,765,113
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G |
Adamts14 |
ADAM metallopeptidase with thrombospondin type 1 motif, 14 |
|
ISO |
DNA:missense mutation:cds: (rs4747096) (human) |
RGD |
PMID:18790654 |
RGD:6771189 |
NCBI chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866
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G |
Adamts4 |
ADAM metallopeptidase with thrombospondin type 1 motif, 4 |
treatment |
ISO |
associated with Bone Diseases, Metabolic |
RGD |
PMID:22432033 |
RGD:10043110 |
NCBI chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065
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G |
Adamts5 |
ADAM metallopeptidase with thrombospondin type 1 motif, 5 |
treatment disease_progression no_association |
ISO IEP IMP |
associated with Bone Diseases, Metabolic mRNA:increased expression:cartilage protein:alternative form:synovium DNA:missense mutations:exon: (rs226794, rs2830585) (human) DNA:missense mutation:exon:p.R614H (human) |
RGD |
PMID:23982761 PMID:22432033 PMID:17530714 PMID:22084394 PMID:23954517 PMID:11801682 PMID:18240210 PMID:23546441 PMID:22961118 More...
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RGD:10043101, RGD:10043110, RGD:2300093, RGD:10003165, RGD:10043107, RGD:10043106, RGD:10043105, RGD:10043103, RGD:10043102 |
NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205
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G |
Adgrg2 |
adhesion G protein-coupled receptor G2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17568789 |
|
NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609
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G |
Ager |
advanced glycosylation end product-specific receptor |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16948116 PMID:23894457 |
RGD:8695985 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Ak4 |
adenylate kinase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 5:116,039,222...116,099,064
Ensembl chr 5:116,039,616...116,098,618
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G |
Akr1c1 |
aldo-keto reductase family 1, member C1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
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|
G |
Akr1c2 |
aldo-keto reductase family 1, member C2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
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G |
Aldh1a2 |
aldehyde dehydrogenase 1 family, member A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24728293 |
|
NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107
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G |
Aspn |
asporin |
no_association |
ISO |
DNA:repeats:exon: CTD Direct Evidence: marker/mechanism |
OMIM CTD RGD |
PMID:16542493 |
RGD:9684966 |
NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
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G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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G |
Atp6v1b2 |
ATPase H+ transporting V1 subunit B2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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G |
Atp7a |
ATPase copper transporting alpha |
|
ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 |
MouseDO |
|
|
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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G |
Bad |
BCL2-associated agonist of cell death |
|
ISO |
|
RGD |
PMID:19217321 |
RGD:10053643 |
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
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G |
Bag6 |
BAG cochaperone 6 |
susceptibility |
ISO |
DNA:SNP: :rs3117582(human) |
RGD |
PMID:25231575 |
RGD:14390133 |
NCBI chr20:3,675,938...3,690,414
Ensembl chr20:3,675,938...3,688,657
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G |
Bax |
BCL2 associated X, apoptosis regulator |
|
ISO |
protein:increased expression:chondrocyte |
RGD |
PMID:19217321 PMID:16864079 |
RGD:10053643, RGD:10054095 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bcl2 |
BCL2, apoptosis regulator |
|
ISO |
protein:increased expression:chondrocyte |
RGD |
PMID:19217321 PMID:16864079 |
RGD:10053643, RGD:10054095 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Becn1 |
beclin 1 |
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ISO |
protein:decreased expression:cartilage |
RGD |
PMID:20187128 PMID:20187128 |
RGD:6483317, RGD:6483317 |
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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G |
Bglap |
bone gamma-carboxyglutamate protein |
disease_progression |
ISO |
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RGD |
PMID:20157712 |
RGD:6483599 |
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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G |
Bmp2 |
bone morphogenetic protein 2 |
susceptibility |
ISO |
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RGD |
PMID:15334463 |
RGD:1625347 |
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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G |
Bmp4 |
bone morphogenetic protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20008919 |
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NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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G |
Bmp6 |
bone morphogenetic protein 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20008919 |
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NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
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Bmp7 |
bone morphogenetic protein 7 |
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ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 |
MouseDO |
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NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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G |
Bmpr1a |
bone morphogenetic protein receptor type 1A |
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ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 |
MouseDO |
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NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
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Calca |
calcitonin-related polypeptide alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16690336 |
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NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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G |
Casp3 |
caspase 3 |
treatment |
IEP |
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RGD |
PMID:29138829 |
RGD:13782343 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp9 |
caspase 9 |
treatment |
IEP |
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RGD |
PMID:29138829 |
RGD:13782343 |
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Cav1 |
caveolin 1 |
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IEP |
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RGD |
PMID:16508959 |
RGD:10043354 |
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Ccl22 |
C-C motif chemokine ligand 22 |
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ISO |
protein:increased expression:plasma: |
RGD |
PMID:19942450 |
RGD:10054497 |
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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Ccr4 |
C-C motif chemokine receptor 4 |
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ISO |
protein:increased expression:synovial membrane: |
RGD |
PMID:19942450 |
RGD:10054497 |
NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
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Cd36 |
CD36 molecule |
susceptibility |
ISO |
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RGD |
PMID:15334463 |
RGD:1625347 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
treatment |
IEP |
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RGD |
PMID:24009074 |
RGD:10043190 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cebpb |
CCAAT/enhancer binding protein beta |
susceptibility |
ISO |
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RGD |
PMID:22095691 |
RGD:10401214 |
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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Chi3l1 |
chitinase 3 like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
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NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Cilp |
cartilage intermediate layer protein |
disease_progression |
ISO |
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RGD |
PMID:15334463 |
RGD:1625347 |
NCBI chr 8:65,777,281...65,792,251
Ensembl chr 8:65,777,281...65,792,251
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Clec3b |
C-type lectin domain family 3, member B |
disease_progression |
ISO |
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RGD |
PMID:15334463 |
RGD:1625347 |
NCBI chr 8:122,810,120...122,815,837
Ensembl chr 8:122,810,149...122,815,835
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Clic1 |
chloride intracellular channel 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
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NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712
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Clic4 |
chloride intracellular channel 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
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NCBI chr 5:147,453,702...147,513,455
Ensembl chr 5:147,453,712...147,513,452
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Clu |
clusterin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17568789 PMID:18784066 |
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NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Col11a1 |
collagen type XI alpha 1 chain |
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ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 |
MouseDO |
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NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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Col1a1 |
collagen type I alpha 1 chain |
no_association |
ISO |
DNA:SNP:intron:IVS1 |
RGD |
PMID:10743824 |
RGD:5688331 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col1a2 |
collagen type I alpha 2 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Col2a1 |
collagen type II alpha 1 chain |
onset treatment |
ISO IDA |
DNA:missense mutation:exon:p.R75C (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9061443 PMID:16189708 PMID:16755660 PMID:19216861 |
RGD:8657384, RGD:8661226 |
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Col6a2 |
collagen type VI alpha 2 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
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NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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Col9a1 |
collagen type IX alpha 1 chain |
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ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 |
MouseDO |
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NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213
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Comp |
cartilage oligomeric matrix protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7670472 |
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NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845
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Ctsd |
cathepsin D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
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NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
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Ctsk |
cathepsin K |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30664745 |
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NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
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G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15292528 |
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NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15292528 |
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NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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Dapp1 |
dual adaptor of phosphotyrosine and 3-phosphoinositides 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
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NCBI chr 2:226,425,890...226,475,445
Ensembl chr 2:226,425,898...226,475,423
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Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
disease_progression |
ISO |
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RGD |
PMID:24938620 |
RGD:150429973 |
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Ddx3x |
DEAD-box helicase 3, X-linked |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
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NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
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Dpep1 |
dipeptidase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30664745 |
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NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
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G |
Dpysl2 |
dihydropyrimidinase-like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
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NCBI chr15:41,005,551...41,111,724
Ensembl chr15:41,005,551...41,111,829
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G |
Edil3 |
EGF like repeats and discoidin domains 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
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NCBI chr 2:19,890,396...20,405,028
Ensembl chr 2:19,890,373...20,405,008
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