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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:chronic ulcer of skin
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Accession:DOID:8549 term browser browse the term
Definition:An ULCER of the skin and underlying tissues.
Synonyms:exact_synonym: callous ulcer;   indolent ulcer;   skin ulcer;   skin ulcers
 primary_id: MESH:D012883
 xref: EFO:0007066;   ICD10CM:L98.4;   ICD9CM:707
For additional species annotation, visit the Alliance of Genome Resources.



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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    sensory system disease 7249
      skin disease 4187
        chronic ulcer of skin 89
          Buruli ulcer disease 1
          Dermatoosteolysis Kirghizian Type 0
          decubitus ulcer 5
          pyoderma gangrenosum + 52
          ulcer of lower limbs + 25
Path 2
Term Annotations click to browse term
  disease 19055
    Pathological Conditions, Signs and Symptoms 13533
      Signs and Symptoms 11086
        Neurologic Manifestations 10337
          sensory system disease 7249
            skin disease 4187
              chronic ulcer of skin 89
                Buruli ulcer disease 1
                Dermatoosteolysis Kirghizian Type 0
                decubitus ulcer 5
                pyoderma gangrenosum + 52
                ulcer of lower limbs + 25
paths to the root