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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:systemic scleroderma
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Accession:DOID:418 term browser browse the term
Definition:A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. (DO)
Synonyms:exact_synonym: progressive scleroderma;   progressive systemic sclerosis;   scleroderma syndrome;   systemic sclerosis
 narrow_synonym: anti-centromere-antibody-positive systemic scleroderma;   anti-topoisomerase-I-antibody-positive systemic scleroderma
 primary_id: MESH:D012595
 xref: EFO:0000717;   EFO:0008536;   EFO:0008537;   GARD:9748;   ICD10CM:M34.0;   ICD9CM:710.1;   NCI:C72070
For additional species annotation, visit the Alliance of Genome Resources.


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systemic scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO protein:decreased expression:plasma GAD
RGD		 PMID:15118671 PMID:17360781 RGD:1331525, RGD:8548889 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO protein:decreased expression:plasma (human) RGD PMID:12935979 RGD:10449040 NCBI chr 3:30,697,354...30,736,539
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO protein:increased expression:serum RGD PMID:18825489 PMID:18825489 RGD:8695973, RGD:8695973 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Agt angiotensinogen ISO protein:decreased expression:plasma RGD PMID:17360781 RGD:8548889 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Anxa5 annexin A5 severity ISO RGD PMID:21124692 RGD:7242029 NCBI chr 2:121,242,133...121,272,935
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO protein:increased expression:saliva (human) RGD PMID:17722226 RGD:11049167 NCBI chr 9:83,269,884...83,300,610
Ensembl chr 9:75,820,770...75,851,471 		JBrowse link
G Bank1 B-cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNPs: :rs10516487,rs17266594(human) RGD PMID:19815934 RGD:9684975 NCBI chr 2:227,203,998...227,474,008
Ensembl chr 2:224,530,475...224,800,405 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:decreased expression:serum: RGD PMID:21085492 RGD:5144060 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G C3 complement C3 ISO protein:increased expression:plasma RGD PMID:2803327 RGD:7421518 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cav1 caveolin 1 susceptibility ISO DNA:SNPs:enhancer, intron: (rs7795356, rs926198, rs959173) (human)
protein:decreased expression:lung, skin		 RGD PMID:22402147 PMID:18759267 RGD:8661768, RGD:8661773 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO protein:increased expression:respiratory system fluid/secretion
protein:increased expression:serum		 RGD PMID:19615053 PMID:21049277 PMID:21285114 RGD:4891453, RGD:5135284, RGD:5683876 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO mRNA:increased expression:skin RGD PMID:21742595 RGD:7483587 NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:84,388,904...84,391,629 		JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO protein:increased expression:serum RGD PMID:21285114 RGD:5683876 NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,451,388...68,452,938 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO protein:increased expression:serum RGD PMID:21285114 RGD:5683876 NCBI chr10:68,963,893...68,965,728
Ensembl chr10:68,452,052...68,468,231 		JBrowse link
G Ccn1 cellular communication network factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr 2:237,222,730...237,225,689
Ensembl chr 2:234,562,408...234,565,484 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:23142052 RGD:9479741 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO mRNA:increased expression:skin RGD PMID:21742595 RGD:7483587 NCBI chr 1:55,022,037...55,055,857
Ensembl chr 1:52,474,168...52,498,603 		JBrowse link
G Cd247 Cd247 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr13:80,576,264...80,651,422
Ensembl chr13:78,043,307...78,122,263 		JBrowse link
G Cd86 CD86 molecule ISO DNA:snp:5' utr:g.-3479T>G (human) RGD PMID:16790753 RGD:4892554 NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Cfb complement factor B ISO protein:increased expression:plasma RGD PMID:2803327 RGD:7421518 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:16195162 RGD:4892666 NCBI chr13:48,193,839...48,201,822
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Clu clusterin ISO protein:increased expression:serum RGD PMID:22350181 RGD:8898558 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27228633 NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:48,408,574...48,435,099 		JBrowse link
G Cnr2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27228633 NCBI chr 5:153,408,968...153,435,092
Ensembl chr 5:148,125,604...148,151,548 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO RGD PMID:1697606 RGD:5688336 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISS OMIM:181750 MouseDO NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Cp ceruloplasmin ISO protein:increased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Csf1 colony stimulating factor 1 IEP mRNA:increased expression:skin RGD PMID:22700848 RGD:7257593 NCBI chr 2:198,065,400...198,084,774
Ensembl chr 2:195,377,215...195,411,704 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:serum RGD PMID:15608300 RGD:4891898 NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,227,340...10,236,833 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:lung, skin
DNA:polymorphisms: :p.V249I, p.T280M (human)		 RGD PMID:15608300 PMID:23142052 PMID:16584113 RGD:4891898, RGD:9479741, RGD:4891896 NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:119,782,595...119,800,014 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:serum RGD PMID:21303517 PMID:21049277 RGD:5135279, RGD:5135284 NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cxcl16 C-X-C motif chemokine ligand 16 ISO protein:increased expression:serum, skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr10:55,665,355...55,669,950
Ensembl chr10:55,166,723...55,171,592 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum RGD PMID:21303517 PMID:21049277 RGD:5135279, RGD:5135284 NCBI chr14:16,007,166...16,012,077
Ensembl chr14:15,722,908...15,728,435 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO protein:decreased expression:skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr  X:70,884,293...70,886,944
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Cxcr6 C-X-C motif chemokine receptor 6 ISO protein:increased expression:skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr 8:132,311,834...132,317,001
Ensembl chr 8:123,416,325...123,439,526 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased secretion:plasma (human) RGD PMID:7653485 RGD:4145072 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Eln elastin ISO RGD PMID:22563211 RGD:9585742 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Esr1 estrogen receptor 1 susceptibility ISO DNA:SNP:intron: RGD PMID:19032828 RGD:8553058 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 no_association ISO DNA:SNP:exon: RGD PMID:19032828 RGD:8553058 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G F11r F11 receptor ISO RGD PMID:19153103 RGD:7488918 NCBI chr13:86,406,229...86,429,819
Ensembl chr13:83,873,797...83,897,402 		JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma: RGD PMID:9374919 RGD:11565087 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Fbn1 fibrillin 1 susceptibility ISO
ISS		 OMIM:181750
DNA:insertion:5' utr		 MouseDO
RGD		 PMID:11123012 PMID:10395706 PMID:12384286 RGD:7387265, RGD:12910471, RGD:12904889 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISS OMIM:181750 MouseDO NCBI chr 8:39,089,526...39,209,511
Ensembl chr 8:30,832,753...30,950,433 		JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO protein:increased expression:skin: RGD PMID:21865112 RGD:8552335 NCBI chr10:34,414,834...34,455,878
Ensembl chr10:33,913,608...33,954,770 		JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISS OMIM:181750 MouseDO NCBI chr 6:30,017,952...30,039,269
Ensembl chr 6:24,300,956...24,320,034 		JBrowse link
G Fstl1 follistatin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr11:76,400,870...76,454,053
Ensembl chr11:62,779,783...62,948,677 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:decreased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:missense mutation:cds:p.K173N (human) RGD PMID:15135176 RGD:12798510 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Hdac5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr10:87,653,139...87,688,078
Ensembl chr10:87,152,978...87,188,235 		JBrowse link
G Hgf hepatocyte growth factor treatment
severity		 ISO protein:increased expression:serum:
mRNA:increased expression:skin:		 RGD PMID:17049072 PMID:24387171 PMID:22286923 RGD:8548624, RGD:8548659, RGD:8548651 NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:serum RGD PMID:18825489 RGD:8695973 NCBI chr12:11,009,236...11,015,941
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Hnrnpl heterogeneous nuclear ribonucleoprotein L ISO RGD PMID:21569507 RGD:9999440 NCBI chr 1:93,226,373...93,239,084
Ensembl chr 1:84,100,879...84,111,553 		JBrowse link
G Icam1 intercellular adhesion molecule 1 disease_progression ISO protein:increased expression:blood RGD PMID:18759276 PMID:8099861 PMID:1371389 RGD:8158120, RGD:8547587, RGD:8547576 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Ifng interferon gamma treatment ISO RGD PMID:1418004 RGD:8157622 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:serum: RGD PMID:19004037 RGD:12743606 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Il13 interleukin 13 no_association ISO mRNA, protein:increased expression:skin
DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human)
protein:increased expression:serum		 RGD PMID:15564778 PMID:22045834 PMID:9034992 RGD:5684370, RGD:8549502, RGD:5684371 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 no_association ISO DNA:SNP:intron:43163G>A (rs6646259) (human) RGD PMID:22045834 RGD:8549502 NCBI chr  X:120,213,670...120,294,777
Ensembl chr  X:115,348,860...115,408,681
Ensembl chr11:115,348,860...115,408,681 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:epidermis, endodermis, mast cell (human) RGD PMID:22833167 PMID:23335253 RGD:8696037, RGD:8696038 NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il1b interleukin 1 beta susceptibility ISO DNA:polymorphisms:promoter:-31T>C,-511C>T (human) RGD PMID:17444587 RGD:4142872 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO RGD PMID:1375465 RGD:8662902 NCBI chr 9:50,000,558...50,076,579
Ensembl chr 9:42,504,735...42,579,937 		JBrowse link
G Il2 interleukin 2 ISO protein:increased expression:serum: RGD PMID:2213757 RGD:8663482 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il23r interleukin 23 receptor no_association ISO DNA:SNPs: :rs11209026, rs11465804 (human)
DNA:SNPs: :rs11209032,rs1495965(human)		 RGD PMID:19918037 PMID:18713787 RGD:5096624, RGD:8549603 NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Il27 interleukin 27 ISO protein:increased expression:serum RGD PMID:20705635 RGD:5128477 NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:181,173,372...181,178,582 		JBrowse link
G Il27ra interleukin 27 receptor subunit alpha ISO mRNA:increased expression:skin RGD PMID:20705635 RGD:5128477 NCBI chr19:41,014,730...41,026,740
Ensembl chr19:24,109,972...24,121,938 		JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:serum
mRNA, protein:increased expression, splice variant:blood, mononuclear cell, plasma		 RGD PMID:9034992 PMID:10473513 RGD:5684371, RGD:7829819 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:23406616 RGD:12792238 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Irf5 interferon regulatory factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:58,127,640...58,139,267 		JBrowse link
G Jam3 junctional adhesion molecule 3 ISO protein:increased expression:skin
protein:decreased expression:skin, endothelial cell		 RGD PMID:23001478 PMID:19439502 RGD:7488920, RGD:7488937 NCBI chr 8:33,767,606...33,828,451
Ensembl chr 8:25,507,057...25,569,355 		JBrowse link
G Kdr kinase insert domain receptor ISO protein:decreased expression:bone marrow:
protein:increased expression:skin:		 RGD PMID:22271757 PMID:21865112 RGD:8551843, RGD:8552335 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:SNP:intron:252A>G (human) RGD PMID:10600011 RGD:8548796 NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Mmp1 matrix metallopeptidase 1 severity ISO mRNA:decreased expression:skin
protein:increased expression:serum		 RGD PMID:22286923 PMID:12051403 RGD:8548651, RGD:8693663 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp3 matrix metallopeptidase 3 severity ISO protein:increased expression:serum RGD PMID:12051403 PMID:15498049 RGD:8693663, RGD:8693674 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:15642145 RGD:1580577 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:serum RGD PMID:19286849 RGD:4143496 NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:174,635,995...174,640,733 		JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphism: : RGD PMID:10599336 RGD:5147680 NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr 1:88,500,086...88,535,474
Ensembl chr 1:79,372,119...79,407,360 		JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:serum RGD PMID:21085492 RGD:5144060 NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Notch4 notch receptor 4 ISO DNA: SNPs: non-coding :multiple RGD PMID:21779181 RGD:6480691 NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,160,445...4,184,465 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:superficial vasculature (human) RGD PMID:20228226 RGD:11541095 NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Pf4 platelet factor 4 severity ISO RGD PMID:34556381 RGD:329901818 NCBI chr14:17,582,477...17,583,392
Ensembl chr14:17,298,308...17,299,365 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21979415 RGD:5508306 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA: snp: cds: rs2476601
DNA:missense mutation:cds:p.R620W (rs2476601) (human)		 RGD PMID:21131644 PMID:16464986 RGD:6484551, RGD:7829741 NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G Rbp4 retinol binding protein 4 disease_progression ISO associated with Raynaud disease and interstitial lung disease; protein:decreased expression:blood serum (human) RGD PMID:22211766 RGD:329845579 NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
G Rhob ras homolog family member B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21750679 NCBI chr 6:37,083,030...37,085,204
Ensembl chr 6:31,363,548...31,366,108 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism::HLA-DQA1*0501; RGD PMID:11014350 RGD:8547725 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G S1pr5 sphingosine-1-phosphate receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29033951 NCBI chr 8:28,062,841...28,068,013
Ensembl chr 8:19,786,663...19,791,795 		JBrowse link
G Selenop selenoprotein P ISO protein:decreased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chr 2:54,225,736...54,236,022
Ensembl chr 2:52,498,339...52,508,852 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:dermis,microvessel: RGD PMID:26414805 RGD:11343779 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Serpinf2 serpin family F member 2 ISO protein:increased expression:plasma RGD PMID:12595617 RGD:1625530 NCBI chr10:60,770,698...60,778,782
Ensembl chr10:60,272,400...60,281,243 		JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:25707573 NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Sirt7 sirtuin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25707573 NCBI chr10:106,394,802...106,401,627
Ensembl chr10:105,896,476...105,903,172 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:repeat, polymorphism:promoter, intron: (human) RGD PMID:17876529 RGD:5684940 NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility ISO DNA:SNP:intron: (rs7574865) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs11889341) (human)		 CTD
RGD		 PMID:20383147 PMID:19644887 PMID:19950257 RGD:8661700, RGD:8661711 NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISS OMIM:181750 MouseDO NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21750679 NCBI chr10:39,537,759...39,585,038
Ensembl chr10:39,037,058...39,077,625 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:skin
protein:increased expression:bone marrow:
protein:increased expression:serum:
mRNA,protein:increased expression:skin:		 RGD PMID:16426919 PMID:22271757 PMID:24387171 PMID:21636803 RGD:5684416, RGD:8551843, RGD:8548659, RGD:7421579 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vwf von Willebrand factor severity ISO RGD PMID:22596213 RGD:7205639 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpc centromere protein C ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr14:22,342,910...22,401,522
Ensembl chr14:21,988,144...22,055,476 		JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
diffuse scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing severity ISO protein:decreased expression:serum RGD PMID:21615510 RGD:8694418 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Agt angiotensinogen ISO protein:increased expression:serum RGD PMID:14730619 RGD:8548886 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Bank1 B-cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNPs: :rs10516487,rs17266594,rs3733197(human) RGD PMID:19815934 RGD:9684975 NCBI chr 2:227,203,998...227,474,008
Ensembl chr 2:224,530,475...224,800,405 		JBrowse link
G Cav1 caveolin 1 susceptibility
no_association		 ISO DNA:SNPs:intron, 3' utr: (rs729949, rs3815412, rs9920) (human)
DNA:SNPs:enhancer, intron:multiple		 RGD PMID:22402147 PMID:22402147 RGD:8661768, RGD:8661768 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO RGD PMID:18432520 RGD:5135258 NCBI chr14:17,594,959...17,596,417
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:8254199 RGD:5147984 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9034992 RGD:5684371 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il13 interleukin 13 ISO DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) RGD PMID:16832637 RGD:5684369 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:20338043 RGD:12792275 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 susceptibility ISO DNA:missense mutation:cds:p.F196S (rs1059702) (human) RGD PMID:21898345 RGD:7495782 NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism::HLA-DQA1*0501; RGD PMID:11014350 RGD:8547725 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
no_association		 ISO DNA:SNP:introns: (rs7574865, rs10168266) (human)
DNA:SNP:intron: (rs7574865) (human)
DNA:SNP:intron: (rs3821236) (human)		 RGD PMID:23755762 PMID:19286670 PMID:23755762 RGD:8661701, RGD:8661714, RGD:8661701 NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,656,263...4,666,901 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27228633 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tlr2 toll-like receptor 2 disease_progression ISO DNA:polymorphism:cds:p.P631H(rs5743704)(human) RGD PMID:21905008 RGD:8553044 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Wrn WRN RecQ like helicase ISO RGD PMID:16906373 RGD:10042980 NCBI chr16:65,466,552...65,602,951
Ensembl chr16:58,763,504...58,895,450 		JBrowse link
limited scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1 susceptibility
no_association		 ISO DNA:SNPs:enhancer, intron:multiple
DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human)		 RGD PMID:22402147 PMID:22402147 RGD:8661768, RGD:8661768 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Fas Fas cell surface death receptor ISO RGD PMID:17102953 RGD:12903974 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand ISO RGD PMID:17102953 RGD:12903974 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-384T>G(human) RGD PMID:17444587 RGD:4142872 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:20808962 RGD:4892610 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Pgf placental growth factor ISO protein:increased expression:plasma RGD PMID:22461185 RGD:6483571 NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:104,816,104...104,826,685 		JBrowse link
G Serpine1 serpin family E member 1 ISO mRNA,protein:increased expression:skin: RGD PMID:15730388 RGD:13208597 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 no_association
susceptibility		 ISO DNA:SNPs:introns: (rs10168266, rs3821236) (human)
DNA:SNP:intron: (rs7574865) (human)		 RGD PMID:23755762 PMID:23755762 PMID:19286670 RGD:8661701, RGD:8661701, RGD:8661714 NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
Reynolds Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome OMIM
ClinVar		 PMID:18382993 PMID:20522425 PMID:23824842 PMID:24033266 PMID:25348816 More... NCBI chr13:96,071,058...96,095,709
Ensembl chr13:93,538,920...93,564,017 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      musculoskeletal system disease 8460
        autoimmune disease of musculoskeletal system 1002
          rheumatic disease 788
            scleroderma 124
              systemic scleroderma 116
                Familial Progressive Scleroderma 0
                Juvenile Systemic Scleroderma 0
                Juvenile-Onset Scleroderma 0
                Reynolds Syndrome 1
                diffuse scleroderma 18
                limited scleroderma + 14
                pulmonary systemic sclerosis 0
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      Immune & Inflammatory Diseases 5751
        immune system disease 5070
          primary immunodeficiency disease 4476
            autoimmune disease 2376
              autoimmune disease of musculoskeletal system 1002
                rheumatic disease 788
                  scleroderma 124
                    systemic scleroderma 116
                      Familial Progressive Scleroderma 0
                      Juvenile Systemic Scleroderma 0
                      Juvenile-Onset Scleroderma 0
                      Reynolds Syndrome 1
                      diffuse scleroderma 18
                      limited scleroderma + 14
                      pulmonary systemic sclerosis 0
paths to the root