RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:19638336
RGD:2315843
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Icam1
intercellular adhesion molecule 1
ISO
associated with Scleroderma, Systemic;protein:increased expression:blood
RGD
PMID:8099861
RGD:8547587
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Itgb2
integrin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9653089
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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Lama3
laminin subunit alpha 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12915477
NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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Mmp9
matrix metallopeptidase 9
susceptibility
ISO
associated with Scleroderma, Systemic in males;DNA:SNP:promoter:-1562C>T (rs3918242) (human)
RGD
PMID:21455563
RGD:8547865
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Ngf
nerve growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24244623
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Pdgfa
platelet derived growth factor subunit A
IEP
RGD
PMID:16383039
RGD:2292163
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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Pdgfra
platelet derived growth factor receptor alpha
IEP
RGD
PMID:16383039
RGD:2292163
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Pepd
peptidase D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16470701
NCBI chr 1:87,536,650...87,681,233
Ensembl chr 1:87,536,609...87,681,231
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Plcb3
phospholipase C beta 3
ISO
RGD
PMID:10669417
RGD:737745
NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228
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Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
ClinVar Annotator: match by term: Buruli ulcer, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:16395392
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Fgf2
fibroblast growth factor 2
IEP
RGD
PMID:23740668
RGD:8655548
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Hif1a
hypoxia inducible factor 1 subunit alpha
IEP
mRNA, protein:increased expression:deep dorsal muscles (rat)
RGD
PMID:20223667
RGD:8694460
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Il10
interleukin 10
IEP
mRNA:increased expression:skin
RGD
PMID:26177082
RGD:11049489
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:skin:
RGD
PMID:12692851
RGD:8551845
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Vegfa
vascular endothelial growth factor A
ISO IEP
protein:increased expression:skin:
RGD
PMID:12692851 PMID:23740668
RGD:8551845 , RGD:8655548
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:20836881
RGD:5686889
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Ager
advanced glycosylation end product-specific receptor
ISO
associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood
RGD
PMID:21941211
RGD:6767555
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Crp
C-reactive protein
disease_progression
ISO
protein:increased expression:blood:
RGD
PMID:22712631
RGD:6906887
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Gja1
gap junction protein, alpha 1
ISO
protein:increased expression:dermis
RGD
PMID:22455314
RGD:7207269
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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H19
H19 imprinted maternally expressed transcript
ameliorates
ISO
RNA:increased expression:foot (human)
RGD
PMID:33174326 PMID:33174326
RGD:156451663 , RGD:156451663
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
mRNA,protein:decreased expression:blood serum, foot (human)
RGD
PMID:34293021
RGD:155260332
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Hspa1b
heat shock protein family A (Hsp70) member 1B
severity
ISO
DNA:polymorphism: :1538G>A (human)
RGD
PMID:19731315
RGD:8662463
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
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Igf1
insulin-like growth factor 1
ISO
protein:decreased expression:fibroblast of dermis,stratum basale of epidermis:
RGD
PMID:10727985
RGD:8549356
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Il15
interleukin 15
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:dermis, endothelial cell
RGD
PMID:17014667
RGD:2313575
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Itgam
integrin subunit alpha M
ISO
protein:increased expression:pes (human)
RGD
PMID:37087778
RGD:329853756
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Mbl2
mannose binding lectin 2
ISO
protein:increased expression:serum:
RGD
PMID:19997692
RGD:8694068
NCBI chr 1:228,016,439...228,024,736
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Mir17
microRNA 17
ISO
RGD
PMID:36333728
RGD:329349308
NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
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Mir210
microRNA 210
ISO
miRNA:increased expression:blood serum, foot (human)
RGD
PMID:34293021
RGD:155260332
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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Mmp9
matrix metallopeptidase 9
severity
ISO
RGD
PMID:22688339
RGD:8547813
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Notch1
notch receptor 1
ISO
protein:increased expression:skin, epidermis:
RGD
PMID:30886104
RGD:155646129
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Plat
plasminogen activator, tissue type
ISO
RGD
PMID:17275886
RGD:2311669
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Ptx3
pentraxin 3
ISO
protein:decreased expression:plasma (human)
RGD
PMID:30767386
RGD:38501100
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
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Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:SNPs,haplotype: :rs4986790,rs4986791,rs10759931,rs1927911(human);
RGD
PMID:23936790
RGD:7777174
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
associated with Diabetes Mellitus
RGD
PMID:19509015
RGD:2311355
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Fgfr2
fibroblast growth factor receptor 2
ISO
associated with chronic venous insufficiency;DNA:SNP:3' utr: (human)
RGD
PMID:15854058
RGD:155663562
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Arid3b
AT-rich interaction domain 3B
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,193,268...58,240,901
Ensembl chr 8:58,193,418...58,238,318
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C8h15orf39
similar to human chromosome 15 open reading frame 39
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,646,324...57,655,896
Ensembl chr 8:57,645,756...57,655,941
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Ccdc33
coiled-coil domain containing 33
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,434,798...58,534,338
Ensembl chr 8:58,435,661...58,534,370
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Cimap1c
ciliary microtubule associated protein 1C
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,248,746...57,281,084
Ensembl chr 8:57,248,746...57,281,004
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Clk3
CDC-like kinase 3
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,152,155...58,167,196
Ensembl chr 8:58,152,155...58,168,181
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Commd4
COMM domain containing 4
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,566,236...57,569,701
Ensembl chr 8:57,566,236...57,569,760
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Cox5a
cytochrome c oxidase subunit 5A
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,922,374...57,933,781
Ensembl chr 8:57,922,290...57,933,781
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Cplx3
complexin 3
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,003,535...58,010,297
Ensembl chr 8:58,003,535...58,010,297
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Csk
C-terminal Src kinase
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292
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Cspg4
chondroitin sulfate proteoglycan 4
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
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Edc3
enhancer of mRNA decapping 3
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,106,147...58,151,685
Ensembl chr 8:58,106,175...58,151,671
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Etfa
electron transfer flavoprotein subunit alpha
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969
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Fam219b
family with sequence similarity 219, member B
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,941,327...57,946,916
Ensembl chr 8:57,941,294...57,946,906
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Fbxo22
F-box protein 22
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:55,579,906...55,595,981
Ensembl chr 8:55,579,891...55,596,148
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Imp3
IMP U3 small nucleolar ribonucleoprotein 3
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,339,528...57,340,416
Ensembl chr 8:57,339,496...57,340,414
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Isl2
ISL LIM homeobox 2
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:55,923,805...55,928,790
Ensembl chr 8:55,923,805...55,928,790
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Islr
immunoglobulin superfamily containing leucine-rich repeat
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,571,155...58,574,128
Ensembl chr 8:58,570,777...58,574,130
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Islr2
immunoglobulin superfamily containing leucine-rich repeat 2
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,608,165...58,616,246
Ensembl chr 8:58,608,709...58,614,650
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Lman1l
lectin, mannose-binding, 1 like
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,010,839...58,029,599
Ensembl chr 8:58,010,839...58,023,681
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Loxl1
lysyl oxidase-like 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356
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Man2c1
mannosidase, alpha, class 2C, member 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690
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Mpi
mannose phosphate isomerase
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150
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Neil1
nei-like DNA glycosylase 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
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Nrg4
neuregulin 4
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:55,586,253...55,677,829
Ensembl chr 8:55,592,893...55,677,483
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Pml
PML nuclear body scaffold
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
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Ppcdc
phosphopantothenoylcysteine decarboxylase
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,815,195...57,842,863
Ensembl chr 8:57,815,195...58,000,570
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Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum and acne | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11971877 PMID:14595024 PMID:15580218 PMID:16199547 PMID:16527883 PMID:17576681 PMID:19673875 PMID:19934105 PMID:20506269 PMID:22161697 PMID:22513199 PMID:23571383 PMID:24139496 PMID:25683018 PMID:25741868 PMID:25845478 PMID:26025129 PMID:26386126 PMID:27106250 PMID:27577878 PMID:28492532 PMID:28628471 PMID:28960754 PMID:29150835 PMID:29432774 PMID:30198636 PMID:30290665 PMID:30783801 PMID:31119601 PMID:31789267 PMID:32054657 PMID:32441320 PMID:32888943 PMID:33597285 PMID:34273117 PMID:34399798 PMID:34620178 PMID:35152348 PMID:35482138 More...
NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
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Ptpn9
protein tyrosine phosphatase, non-receptor type 9
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,391,290...57,472,352
Ensembl chr 8:57,391,259...57,470,952
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Rcn2
reticulocalbin 2
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:56,449,206...56,466,253
Ensembl chr 8:56,449,206...56,466,251
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Rpp25
ribonuclease P and MRP subunit p25
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,907,352...57,908,732
Ensembl chr 8:57,907,352...57,908,732
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Scamp2
secretory carrier membrane protein 2
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,965,612...57,992,248
Ensembl chr 8:57,965,631...57,992,646
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Scamp5
secretory carrier membrane protein 5
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,845,831...57,884,516
Ensembl chr 8:57,846,659...57,872,027
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Scaper
S-phase cyclin A-associated protein in the ER
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122
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Sema7a
semaphorin 7A (John Milton Hagen blood group)
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,348,448...58,370,536
Ensembl chr 8:58,348,448...58,370,536
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Sin3a
SIN3 transcription regulator family member A
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
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Snupn
snurportin 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,347,412...57,388,345
Ensembl chr 8:57,348,130...57,380,912
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Snx33
sorting nexin 33
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,315,861...57,328,522
Ensembl chr 8:57,317,161...57,327,538
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Stoml1
stomatin like 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,661,980...58,669,860
Ensembl chr 8:58,661,992...58,669,860
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Stra6
signaling receptor and transporter of retinol STRA6
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860
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Tmem266
transmembrane protein 266
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:55,707,122...55,820,692
Ensembl chr 8:55,707,122...55,820,692
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Ube2q2
ubiquitin conjugating enzyme E2 Q2
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:55,518,402...55,578,342
Ensembl chr 8:55,519,147...55,577,212
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Ubl7
ubiquitin-like 7
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:58,321,279...58,340,353
Ensembl chr 8:58,320,866...58,340,344
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Ulk3
unc-51 like kinase 3
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis
ClinVar
PMID:28492532
NCBI chr 8:57,992,396...58,000,220
Ensembl chr 8:57,992,723...57,999,467
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Mefv
MEFV innate immunity regulator, pyrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:skin
RGD
PMID:21658319
RGD:8657060
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:skin
RGD
PMID:21658319
RGD:8657060
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
G
Nod2
nucleotide-binding oligomerization domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
G
Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
G
Esr1
estrogen receptor 1
no_association
ISO
RGD
PMID:16153823
RGD:1626508
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Esr2
estrogen receptor 2
ISO
DNA:polymorphism:intron:(CA) dinucleotide repeat (human) DNA:SNPs:promoter, exon
RGD
PMID:16153823 PMID:18070128
RGD:1626508 , RGD:8553061
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
G
Hfe
homeostatic iron regulator
susceptibility onset
ISO
associated with Chronic Venous Disease;DNA:missense mutation:cds:p.C282Y (human) associated with Chronic Venous Disease;DNA:missense mutation:cds:p.H63D (human)
RGD
PMID:16102632 PMID:16678024
RGD:1582685 , RGD:8694379
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Lepr
leptin receptor
ISO
mRNA:decreased expression:skin
RGD
PMID:22773832
RGD:10412021
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Mbl2
mannose binding lectin 2
ISO
protein:decreased expression:serum:
RGD
PMID:19997692
RGD:8694068
NCBI chr 1:228,016,439...228,024,736
G
Mir21
microRNA 21
ISO
miRNA:increased expression:skin:
RGD
PMID:22773832
RGD:10412021
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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