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ONTOLOGY REPORT - ANNOTATIONS
Term:collagen disease
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Accession:DOID:854 term browser browse the term
Definition:Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494)
Synonyms:exact_synonym: collagen diseases;   collagen disorder
 primary_id: MESH:D003095
 alt_id: RDO:0000795
 xref: NCI:C27204
For additional species annotation, visit the Alliance of Genome Resources.

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Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:1600924
RGD:8554872
RGD:11554173
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:8554872
G Col4a5 collagen type IV alpha 5 chain JBrowse link X 112,769,595 112,983,720 RGD:1600687
RGD:8554872
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:7175090
G Mmp12 matrix metallopeptidase 12 JBrowse link 8 5,594,717 5,616,494 RGD:7241212
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:7241252
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:11554173
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:7365078
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a6 collagen type IV alpha 6 chain JBrowse link X 112,405,647 112,768,337 RGD:7240710
autosomal dominant Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:7240710
RGD:8554872
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:8554872
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:6902925
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:7240710
RGD:8554872
autosomal dominant type IV Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:7240710
autosomal recessive Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccr1 C-C motif chemokine receptor 1 JBrowse link 8 132,996,646 133,002,201 RGD:5688157
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:7240710
RGD:8554872
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:7240710
RGD:8554872
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:13592920
brittle cornea syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:8554872
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:13592920
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:13592920
Brittle Cornea Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:7240710
RGD:8554872
RGD:11554173
Brittle Cornea Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:7240710
RGD:8554872
Bruck syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:13592920
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:8554872
RGD:13592920
Bruck Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:8554872
RGD:7240710
Bruck Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:7240710
RGD:8554872
Cardiac Valvular Dysplasia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872
RGD:11565121
Cole-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:8554872
RGD:11554173
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:11554173
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:7240710
RGD:8554872
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:7240710
RGD:8554872
CREST syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:12910471
diffuse scleroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:8694418
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:8548886
G Bank1 B-cell scaffold protein with ankyrin repeats 1 JBrowse link 2 241,273,763 241,545,527 RGD:9684975
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:8661768
G Cxcl6 C-X-C motif chemokine ligand 6 JBrowse link 14 18,860,201 18,920,839 RGD:5135258
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:5147984
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:5684371
G Il13 interleukin 13 JBrowse link 10 38,982,909 38,985,466 RGD:5684369
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:12792275
G Irak1 interleukin-1 receptor-associated kinase 1 JBrowse link X 156,716,469 156,726,367 RGD:7495782
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8551850
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:8547725
G Stat4 signal transducer and activator of transcription 4 JBrowse link 9 54,340,649 54,457,753 RGD:8661701
RGD:8661714
G Tap1 transporter 1, ATP binding cassette subfamily B member JBrowse link 20 3,979,302 3,989,669 RGD:1578361
G Tap2 transporter 2, ATP binding cassette subfamily B member JBrowse link 20 3,995,544 4,009,587 RGD:1578361
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:8553044
G Wrn WRN RecQ like helicase JBrowse link 16 62,483,773 62,619,018 RGD:10042980
EDS VIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:1599433
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:11571617
RGD:13592920
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:1581198
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:1300381
RGD:8554872
RGD:11554173
RGD:11041602
RGD:11041599
RGD:7257554
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:1581210
RGD:8554872
RGD:1581211
RGD:1581212
RGD:734808
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:734809
G Dcn decorin JBrowse link 7 38,742,250 38,782,282 RGD:13592920
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:1581895
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:13592920
RGD:8554872
G Slc39a13 solute carrier family 39 member 13 JBrowse link 3 79,884,524 79,892,664 RGD:11553861
RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11073604
G Tnxb tenascin XB RGD:1599494
Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnxb tenascin XB RGD:7240710
RGD:8554872
Ehlers-Danlos syndrome progeroid type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:11554173
RGD:8554872
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
G Slc40a1 solute carrier family 40 member 1 JBrowse link 9 52,819,451 52,830,461 RGD:8554872
G Wdr75 WD repeat domain 75 JBrowse link 9 52,687,845 52,717,808 RGD:8554872
Ehlers-Danlos Syndrome Type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:7240710
RGD:8554872
RGD:11554173
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
Ehlers-Danlos Syndrome Type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
Ehlers-Danlos Syndrome Type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1r complement C1r JBrowse link 4 157,126,060 157,136,825 RGD:8554872
RGD:7240710
G C1s complement C1s JBrowse link 4 157,143,592 157,155,592 RGD:8554872
Ehlers-Danlos Syndrome, Cardiac Valvular Form term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:7240710
RGD:8554872
RGD:11554173
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aebp1 AE binding protein 1 JBrowse link 14 86,101,253 86,111,323 RGD:8554872
RGD:7240710
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp14 FKBP prolyl isomerase 14 JBrowse link 4 84,753,628 84,768,314 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Musculocontractural Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Musculocontractural Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dse dermatan sulfate epimerase JBrowse link 20 27,703,738 27,784,982 RGD:7240710
RGD:8554872
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1r complement C1r JBrowse link 4 157,126,060 157,136,825 RGD:8554872
G C1s complement C1s JBrowse link 4 157,143,592 157,155,592 RGD:8554872
RGD:7240710
Ehlers-Danlos Syndrome, Progeroid Type, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:734803
RGD:8554872
RGD:7240710
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 JBrowse link 10 36,098,051 36,304,416 RGD:7240710
RGD:8554872
RGD:1598738
epidermolysis bullosa dystrophica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:1600946
RGD:8554872
RGD:7240710
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743601
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7240710
RGD:8549728
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
Epidermolysis Bullosa Pruriginosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:7240710
RGD:8554872
epidermolysis bullosa with congenital localized absence of skin and deformity of nails term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:7240710
RGD:8554872
Familial Cutaneous Collagenoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lemd3 LEM domain containing 3 JBrowse link 7 62,976,671 63,045,860 RGD:11553841
gnathodiaphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:7240710
RGD:8554872
RGD:11570566
RGD:11570556
Keloid term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actrt2 actin-related protein T2 JBrowse link 5 172,077,290 172,078,690 RGD:11554173
G Agpat5 1-acylglycerol-3-phosphate O-acyltransferase 5 JBrowse link 16 75,812,837 75,855,996 RGD:8554872
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11554173
G Arhgdia Rho GDP dissociation inhibitor alpha JBrowse link 10 109,754,012 109,757,506 RGD:11554173
G Asah1 N-acylsphingosine amidohydrolase 1 JBrowse link 16 53,998,604 54,030,006 RGD:8554872
G Aspn asporin JBrowse link 17 14,655,958 14,681,355 RGD:11554173
G Capg capping actin protein, gelsolin like JBrowse link 4 100,395,693 100,419,447 RGD:11554173
G Clic1 chloride intracellular channel 1 JBrowse link 20 5,040,314 5,049,166 RGD:11554173
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:11554173
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:11554173
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:11554173
G Crabp1 cellular retinoic acid binding protein 1 JBrowse link 8 59,344,097 59,352,135 RGD:11554173
G Eif5a eukaryotic translation initiation factor 5A JBrowse link 10 56,527,075 56,531,615 RGD:11554173
G Fgg fibrinogen gamma chain JBrowse link 2 181,987,080 181,994,523 RGD:11554173
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:11554173
G Fth1 ferritin heavy chain 1 JBrowse link 1 226,030,940 226,033,228 RGD:11554173
G Ftl1 ferritin light chain 1 JBrowse link 1 101,448,190 101,450,034 RGD:11554173
G Hbb-b1 hemoglobin, beta adult major chain JBrowse link 1 168,945,531 168,953,023 RGD:11554173
G Lgals1 galectin 1 JBrowse link 7 120,153,184 120,156,290 RGD:11554173
G Mif macrophage migration inhibitory factor JBrowse link 20 13,715,219 13,732,980 RGD:11554173
G Mydgf myeloid-derived growth factor JBrowse link 9 10,885,521 10,892,744 RGD:11554173
G Myl6b myosin light chain 6B JBrowse link X 43,831,778 43,833,044 RGD:11554173
G Nedd4 NEDD4 E3 ubiquitin protein ligase JBrowse link 8 79,323,408 79,408,842 RGD:11554173
G Pfn1 profilin 1 JBrowse link 10 57,273,003 57,275,708 RGD:11554173
G Prdx1 peroxiredoxin 1 JBrowse link 5 135,536,413 135,551,986 RGD:11554173
G Prdx2 peroxiredoxin 2 JBrowse link 19 26,084,816 26,090,095 RGD:11554173
G Ran RAN, member RAS oncogene family JBrowse link 12 31,319,556 31,324,105 RGD:11554173
G S100a10 S100 calcium binding protein A10 JBrowse link 2 193,892,589 193,901,236 RGD:11554173
G S100a4 S100 calcium-binding protein A4 JBrowse link 2 189,997,278 189,999,587 RGD:11554173
G S100a8 S100 calcium binding protein A8 JBrowse link 2 190,073,239 190,074,333 RGD:11554173
G S100a9 S100 calcium binding protein A9 JBrowse link 2 190,097,436 190,100,209 RGD:11554173
G Serpinb5 serpin family B member 5 JBrowse link 13 26,903,052 26,923,250 RGD:11554173
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:11554173
G Sfn stratifin JBrowse link 5 151,823,422 151,824,937 RGD:11554173
G Tagln transgelin JBrowse link 8 50,222,895 50,228,369 RGD:11554173
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:11554173
G Tpsb2 tryptase beta 2 JBrowse link 10 14,722,672 14,724,464 RGD:11554173
Kniest dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
RGD:11554173
limited scleroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:8661768
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8661733
G Ccr2 C-C motif chemokine receptor 2 RGD:8661733
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:12903974
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:12903974
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:4142872
G Jak2 Janus kinase 2 JBrowse link 1 247,398,667 247,457,521 RGD:4892610
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8551850
G Pgf placental growth factor JBrowse link 6 108,994,016 109,004,598 RGD:6483571
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13208597
G Stat4 signal transducer and activator of transcription 4 JBrowse link 9 54,340,649 54,457,753 RGD:8661701
RGD:8661714
G Tap2 transporter 2, ATP binding cassette subfamily B member JBrowse link 20 3,995,544 4,009,587 RGD:1578361
Lipodermatosclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:5688298
localized scleroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:8662838
G Csf3 colony stimulating factor 3 JBrowse link 10 86,616,785 86,619,160 RGD:11554173
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:8548627
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:8158116
G Il13 interleukin 13 JBrowse link 10 38,982,909 38,985,466 RGD:8549537
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:11554173
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:1582543
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:7394847
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
mixed connective tissue disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:8662437
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:12910471
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8142347
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:5147801
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 JBrowse link 3 122,696,125 122,703,734 RGD:10448928
G Snrpc small nuclear ribonucleoprotein polypeptide C JBrowse link 20 7,409,401 7,427,581 RGD:10766447
G Tlr3 toll-like receptor 3 JBrowse link 16 50,016,466 50,031,011 RGD:5129221
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:8142347
occipital horn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:7240710
RGD:8554872
RGD:11340205
RGD:11252184
OI/EDS Combined Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
osteogenesis imperfecta term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp1 bone morphogenetic protein 1 JBrowse link 15 52,166,401 52,210,786 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:734802
RGD:8554872
RGD:11667068
RGD:11667066
RGD:11667065
RGD:11571620
RGD:11571617
RGD:11571614
RGD:11554173
RGD:8552657
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:1581197
RGD:8554872
RGD:13592920
RGD:11667066
RGD:734804
RGD:7248772
G Crtap cartilage associated protein JBrowse link 8 122,382,613 122,402,209 RGD:11554173
RGD:8554872
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:8554872
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:12792279
G P3h1 prolyl 3-hydroxylase 1 JBrowse link 5 138,279,597 138,294,280 RGD:11554173
RGD:8554872
G Ppib peptidylprolyl isomerase B JBrowse link 8 71,719,681 71,725,538 RGD:8554872
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:8554872
G Serpinh1 serpin family H member 1 JBrowse link 1 164,301,010 164,308,306 RGD:8554872
G Sftpc surfactant protein C JBrowse link 15 52,211,538 52,214,480 RGD:8554872
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:13592920
G Smpd3 sphingomyelin phosphodiesterase 3 JBrowse link 19 38,237,963 38,321,572 RGD:13592920
G Snx22 sorting nexin 22 JBrowse link 8 71,725,405 71,728,729 RGD:8554872
G Sp7 Sp7 transcription factor JBrowse link 7 143,957,316 143,967,488 RGD:8554872
G Sparc secreted protein acidic and cysteine rich JBrowse link 10 40,742,390 40,764,232 RGD:11554173
G Wnt1 Wnt family member 1 JBrowse link 7 140,464,999 140,469,046 RGD:8554872
osteogenesis imperfecta type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
RGD:7240710
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Itga3 integrin subunit alpha 3 JBrowse link 10 82,855,841 82,887,755 RGD:8554872
G Pdk2 pyruvate dehydrogenase kinase 2 JBrowse link 10 82,838,270 82,852,758 RGD:8554872
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B JBrowse link 10 82,800,704 82,816,735 RGD:8554872
G Samd14 sterile alpha motif domain containing 14 JBrowse link 10 82,820,457 82,838,046 RGD:8554872
G Sgca sarcoglycan, alpha JBrowse link 10 82,770,905 82,785,142 RGD:8554872
osteogenesis imperfecta type 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinh1 serpin family H member 1 JBrowse link 1 164,301,010 164,308,306 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:7240710
RGD:8554872
G Sp7 Sp7 transcription factor JBrowse link 7 143,957,316 143,967,488 RGD:8554872
osteogenesis imperfecta type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:8554872
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:8554872
G Sp7 Sp7 transcription factor JBrowse link 7 143,957,316 143,967,488 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp1 bone morphogenetic protein 1 JBrowse link 15 52,166,401 52,210,786 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem38b transmembrane protein 38B JBrowse link 5 70,639,156 70,675,055 RGD:7240710
osteogenesis imperfecta type 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt1 Wnt family member 1 JBrowse link 7 140,464,999 140,469,046 RGD:7240710
RGD:8554872
G Wnt10b Wnt family member 10B JBrowse link 7 140,448,284 140,466,159 RGD:8554872
osteogenesis imperfecta type 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Creb3l1 cAMP responsive element binding protein 3-like 1 JBrowse link 3 80,892,433 80,933,283 RGD:8554872
RGD:7240710
osteogenesis imperfecta type 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sparc secreted protein acidic and cysteine rich JBrowse link 10 40,742,390 40,764,232 RGD:7240710
RGD:8554872
Osteogenesis Imperfecta Type 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tent5a terminal nucleotidyltransferase 5A JBrowse link 8 92,935,474 92,942,267 RGD:8554872
RGD:7240710
Osteogenesis Imperfecta Type 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mbtps2 membrane-bound transcription factor peptidase, site 2 JBrowse link X 40,258,933 40,309,047 RGD:8554872
RGD:7240710
osteogenesis imperfecta type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:7240710
RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:7240710
RGD:8554872
G Smpd3 sphingomyelin phosphodiesterase 3 JBrowse link 19 38,237,963 38,321,572 RGD:13592920
Osteogenesis Imperfecta Type 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mesd mesoderm development LRP chaperone JBrowse link 1 146,030,211 146,043,097 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
osteogenesis imperfecta type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:7240710
RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:7240710
RGD:8554872
G Smpd3 sphingomyelin phosphodiesterase 3 JBrowse link 19 38,237,963 38,321,572 RGD:13592920
osteogenesis imperfecta type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:7240710
RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ifitm5 interferon induced transmembrane protein 5 JBrowse link 1 213,743,331 213,749,879 RGD:7240710
RGD:8554872
G Suco SUN domain containing ossification factor JBrowse link 13 79,736,485 79,801,133 RGD:13592920
osteogenesis imperfecta type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crtap cartilage associated protein JBrowse link 8 122,382,613 122,402,209 RGD:7240710
RGD:8554872
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:8554872
G Tmppe transmembrane protein with metallophosphoesterase domain JBrowse link 8 122,439,679 122,447,208 RGD:8554872
osteogenesis imperfecta type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P3h1 prolyl 3-hydroxylase 1 JBrowse link 5 138,279,597 138,294,280 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppib peptidylprolyl isomerase B JBrowse link 8 71,719,681 71,725,538 RGD:7240710
RGD:8554872
G Snx22 sorting nexin 22 JBrowse link 8 71,725,405 71,728,729 RGD:8554872
Osteopenic Nonfracture Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
osteoporosis-pseudoglioma syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:7240710
RGD:8554872
RGD:12792280
RGD:12792277
RGD:11554173
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:7240710
RGD:8554872
polymyalgia rheumatica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crh corticotropin releasing hormone JBrowse link 2 104,459,999 104,461,863 RGD:1581301
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:9495925
G Hfe homeostatic iron regulator JBrowse link 17 43,661,276 43,669,327 RGD:14746966
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:8693752
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:7241254
G Pecam1 platelet and endothelial cell adhesion molecule 1 JBrowse link 10 94,850,971 94,913,202 RGD:6771319
Pretibial Epidermolysis Bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:7240710
RGD:8554872
Progressive Renal Failure with Hypertension term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Calca calcitonin-related polypeptide alpha JBrowse link 1 184,184,018 184,188,922 RGD:7204486
recessive dystrophic epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
RGD:13592920
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:13592920
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:13592920
Reynolds Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:7240710
RGD:8554872
scleroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc39a13 solute carrier family 39 member 13 JBrowse link 3 79,884,524 79,892,664 RGD:8554872
Sclerotylosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` JBrowse link 4 95,884,020 95,945,248 RGD:7240710
RGD:8554872
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc39a13 solute carrier family 39 member 13 JBrowse link 3 79,884,524 79,892,664 RGD:7240710
RGD:8554872
RGD:11553863
systemic scleroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:1331525
RGD:8548889
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:11554173
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 JBrowse link 3 5,519,921 5,558,390 RGD:10449040
G Ager advanced glycosylation end product-specific receptor JBrowse link 20 4,363,152 4,366,079 RGD:8695973
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:8548889
G Anxa5 annexin A5 JBrowse link 2 123,162,477 123,194,730 RGD:7242029
G Arpc2 actin related protein 2/3 complex, subunit 2 JBrowse link 9 81,518,163 81,548,871 RGD:11049167
G Bank1 B-cell scaffold protein with ankyrin repeats 1 JBrowse link 2 241,273,763 241,545,527 RGD:9684975
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:5144060
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7421518
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:8661768
RGD:8661773
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:4891453
RGD:5135284
RGD:5683876
G Ccl20 C-C motif chemokine ligand 20 JBrowse link 9 88,918,359 88,921,017 RGD:7483587
G Ccl3 C-C motif chemokine ligand 3 JBrowse link 10 70,869,516 70,871,066 RGD:5683876
G Ccl4 C-C motif chemokine ligand 4 JBrowse link 10 70,870,926 70,886,357 RGD:5683876
G Ccn1 cellular communication network factor 1 JBrowse link 2 251,529,354 251,532,312 RGD:11554173
G Ccn2 cellular communication network factor 2 JBrowse link 1 21,851,657 21,854,773 RGD:11554173
G Ccr2 C-C motif chemokine receptor 2 RGD:9479741
G Ccr6 C-C motif chemokine receptor 6 JBrowse link 1 53,063,380 53,087,519 RGD:7483587
G Cd247 Cd247 molecule JBrowse link 13 83,996,045 84,071,408 RGD:11554173
G Cd86 CD86 molecule JBrowse link 11 67,060,305 67,117,990 RGD:4892554
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7421518
G Chi3l1 chitinase 3 like 1 JBrowse link 13 51,022,844 51,030,797 RGD:4892666
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:8898558
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:5688336
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:11554173
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:13592920
G Csf1 colony stimulating factor 1 JBrowse link 2 210,522,370 210,550,546 RGD:7257593
G Cx3cl1 C-X3-C motif chemokine ligand 1 JBrowse link 19 10,644,267 10,654,861 RGD:4891898
G Cx3cr1 C-X3-C motif chemokine receptor 1 JBrowse link 8 128,740,756 128,754,514 RGD:4891898
RGD:9479741
RGD:4891896
G Cxcl10 C-X-C motif chemokine ligand 10 JBrowse link 14 17,210,733 17,212,930 RGD:5135279
RGD:5135284
G Cxcl16 C-X-C motif chemokine ligand 16 JBrowse link 10 57,060,005 57,064,600 RGD:5135279
G Cxcl9 C-X-C motif chemokine ligand 9 JBrowse link 14 17,228,832 17,233,743 RGD:5135279
RGD:5135284
G Cxcr3 C-X-C motif chemokine receptor 3 JBrowse link X 71,614,346 71,616,997 RGD:5135279
G Cxcr6 C-X-C motif chemokine receptor 6 JBrowse link 8 132,869,712 132,870,766 RGD:5135279
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:4145072
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:9585742
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8553058
G Esr2 estrogen receptor 2 JBrowse link 6 99,163,953 99,214,711 RGD:8553058
G F11r F11 receptor JBrowse link 13 89,826,272 89,850,151 RGD:7488918
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:11565087
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7387265
RGD:13592920
RGD:12910471
RGD:12904889
G Fli1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link 8 33,541,932 33,661,111 RGD:13592920
G Flt4 fms-related tyrosine kinase 4 JBrowse link 10 35,078,782 35,120,296 RGD:8552335
G Fosl2 FOS like 2, AP-1 transcription factor subunit JBrowse link 6 25,598,936 25,616,995 RGD:13592920
G Fstl1 follistatin-like 1 JBrowse link 11 65,791,196 65,845,721 RGD:11554173
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:12798510
G Hdac5 histone deacetylase 5 JBrowse link 10 90,140,183 90,169,853 RGD:11554173
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:8548624
RGD:8548659
RGD:8548651
G Hmgb1 high mobility group box 1 JBrowse link 12 7,082,529 7,090,246 RGD:8695973
G Hnrnpl heterogeneous nuclear ribonucleoprotein L JBrowse link 1 86,994,090 87,006,776 RGD:9999440
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:8158120
RGD:8547587
RGD:8547576
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8157622
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743606
G Il13 interleukin 13 JBrowse link 10 38,982,909 38,985,466 RGD:5684370
RGD:8549502
RGD:5684371
G Il13ra1 interleukin 13 receptor subunit alpha 1 JBrowse link X 122,724,081 122,783,801 RGD:8549502
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:8696037
RGD:8696038
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:4142872
G Il1r1 interleukin 1 receptor type 1 JBrowse link 9 46,962,291 47,038,139 RGD:8662902
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8663482
G Il23r interleukin 23 receptor JBrowse link 4 98,203,788 98,306,729 RGD:5096624
RGD:8549603
G Il27 interleukin 27 JBrowse link 1 198,003,615 198,010,112 RGD:5128477
G Il27ra interleukin 27 receptor subunit alpha JBrowse link 19 25,151,835 25,163,995 RGD:5128477
G Il4 interleukin 4 JBrowse link 10 38,963,979 38,969,531 RGD:5684371
RGD:7829819
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:12792238
G Irf5 interferon regulatory factor 5 JBrowse link 4 56,804,477 56,816,271 RGD:11554173
G Jam3 junctional adhesion molecule 3 JBrowse link 8 28,147,110 28,208,466 RGD:7488920
RGD:7488937
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8551843
RGD:8552335
G Lta lymphotoxin alpha JBrowse link 20 4,851,889 4,854,677 RGD:8548796
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:8548651
RGD:8693663
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:8693663
RGD:8693674
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:1580577
G Muc1 mucin 1, cell surface associated JBrowse link 2 188,543,137 188,547,874 RGD:4143496
G Nat2 N-acetyltransferase 2 JBrowse link 16 23,960,709 23,991,570 RGD:5147680
G Nectin2 nectin cell adhesion molecule 2 JBrowse link 1 80,631,449 80,666,617 RGD:11554173
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:5144060
G Notch4 notch receptor 4 JBrowse link 20 4,329,794 4,353,868 RGD:6480691
G Pecam1 platelet and endothelial cell adhesion molecule 1 JBrowse link 10 94,850,971 94,913,202 RGD:11541095
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:5508306
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 JBrowse link 2 206,342,066 206,390,348 RGD:6484551
RGD:7829741
G Rhob ras homolog family member B JBrowse link 6 33,689,127 33,691,301 RGD:11554173
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:8547725
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:11554173
G S1pr5 sphingosine-1-phosphate receptor 5 JBrowse link 8 22,268,635 22,273,708 RGD:11554173
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:11343779
G Serpinf2 serpin family F member 2 JBrowse link 10 62,264,247 62,272,353 RGD:1625530
G Sirt1 sirtuin 1 JBrowse link 20 26,831,971 26,851,587 RGD:11554173
G Sirt7 sirtuin 7 JBrowse link 10 109,796,046 109,802,821 RGD:11554173
G Slc11a1 solute carrier family 11 member 1 JBrowse link 9 81,655,590 81,666,697 RGD:5684940
G Stat4 signal transducer and activator of transcription 4 JBrowse link 9 54,340,649 54,457,753 RGD:8661700
RGD:11554173
RGD:8661711
G Tgfbr1 transforming growth factor, beta receptor 1 JBrowse link 5 63,056,071 63,119,635 RGD:13592920
G Tnip1 TNFAIP3 interacting protein 1 JBrowse link 10 40,255,776 40,303,092 RGD:11554173
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:5684416
RGD:8551843
RGD:8548659
RGD:7421579
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:7205639
transient bullous dermolysis of the newborn term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:7240710
RGD:8554872
type I Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase JBrowse link 3 4,374,679 4,394,374 RGD:8554872
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 JBrowse link 3 5,519,921 5,558,390 RGD:8554872
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:8554872
G Ak8 adenylate kinase 8 JBrowse link 3 7,279,429 7,394,509 RGD:8554872
G Barhl1 BarH-like homeobox 1 JBrowse link 3 7,491,234 7,498,555 RGD:8554872
G Brd3 bromodomain containing 3 JBrowse link 3 5,995,204 6,054,467 RGD:8554872
G Cacfd1 calcium channel flower domain containing 1 JBrowse link 3 5,555,807 5,571,205 RGD:8554872
G Cel carboxyl ester lipase JBrowse link 3 7,134,021 7,141,522 RGD:8554872
G Cfap77 cilia and flagella associated protein 77 JBrowse link 3 7,508,500 7,632,311 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
RGD:7240710
RGD:11554173
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
RGD:13592920
G Dbh dopamine beta-hydroxylase JBrowse link 3 5,709,236 5,731,895 RGD:8554872
G Ddx31 DEAD-box helicase 31 JBrowse link 3 7,422,871 7,488,299 RGD:8554872
G Fam163b family with sequence similarity 163, member B JBrowse link 3 5,656,400 5,693,273 RGD:8554872
G Fcnb ficolin B JBrowse link 3 6,617,816 6,626,193 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) JBrowse link 3 7,076,582 7,079,652 RGD:8554872
G Gfi1b growth factor independent 1B transcriptional repressor JBrowse link 3 7,190,721 7,203,444 RGD:8554872
G Glt6d1 glycosyltransferase 6 domain containing 1 JBrowse link 3 3,255,645 3,266,276 RGD:8554872
G Gtf3c4 general transcription factor IIIC subunit 4 JBrowse link 3 7,404,857 7,422,779 RGD:8554872
G Gtf3c5 general transcription factor IIIC subunit 5 JBrowse link 3 7,144,354 7,164,678 RGD:8554872
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:8554872
G Lcn1 lipocalin 1 JBrowse link 3 4,233,111 4,236,960 RGD:8554872
G Lcn11 lipocalin 11 JBrowse link 3 2,935,396 2,938,883 RGD:8554872
G Lcn9 lipocalin 9 JBrowse link 3 3,272,150 3,274,792 RGD:8554872
G Lum lumican JBrowse link 7 38,820,058 38,826,862 RGD:13592920
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Med22 mediator complex subunit 22 JBrowse link 3 5,453,678 5,458,760 RGD:8554872
G Med27 mediator complex subunit 27 JBrowse link 3 7,884,793 8,059,003 RGD:8554872
G Mrps2 mitochondrial ribosomal protein S2 JBrowse link 3 7,051,695 7,056,726 RGD:8554872
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Mymk myomaker, myoblast fusion factor JBrowse link 3 5,608,243 5,617,689 RGD:8554872
G Ntng2 netrin G2 JBrowse link 3 7,742,511 7,800,834 RGD:8554872
G Obp2a odorant binding protein 2A JBrowse link 3 2,908,684 2,913,362 RGD:8554872
G Olfm1 olfactomedin 1 JBrowse link 3 6,761,031 6,798,739 RGD:8554872
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
G Ppp1r26 protein phosphatase 1, regulatory subunit 26 JBrowse link 3 7,032,118 7,040,615 RGD:8554872
G Ralgds ral guanine nucleotide dissociation stimulator JBrowse link 3 7,090,134 7,130,548 RGD:8554872
G Rapgef1 Rap guanine nucleotide exchange factor 1 JBrowse link 3 8,189,594 8,307,077 RGD:8554872
G Rexo4 REX4 homolog, 3'-5' exonuclease JBrowse link 3 5,500,578 5,510,908 RGD:8554872
G RGD1306233 similar to hypothetical protein MGC29761 JBrowse link 3 7,047,603 7,051,953 RGD:8554872
G Rpl7a ribosomal protein L7a JBrowse link 3 5,458,985 5,461,627 RGD:8554872
G Rxra retinoid X receptor alpha JBrowse link 3 6,272,560 6,295,354 RGD:8554872
G Sardh sarcosine dehydrogenase JBrowse link 3 5,737,203 5,802,153 RGD:8554872
G Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:8554872
G Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 RGD:8554872
G Slc2a6 solute carrier family 2 member 6 JBrowse link 3 5,567,729 5,575,144 RGD:8554872
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 JBrowse link 3 3,290,766 3,295,226 RGD:8554872
G Spaca9 sperm acrosome associated 9 JBrowse link 3 7,269,851 7,279,253 RGD:8554872
G Stkld1 serine/threonine kinase-like domain containing 1 JBrowse link 3 5,481,524 5,500,568 RGD:8554872
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:8554872
G Surf2 surfeit 2 JBrowse link 3 5,464,593 5,468,426 RGD:8554872
G Surf4 surfeit 4 JBrowse link 3 5,468,284 5,481,447 RGD:8554872
G Surf6 surfeit 6 JBrowse link 3 5,441,404 5,452,156 RGD:8554872
G Tgfbr1 transforming growth factor, beta receptor 1 JBrowse link 5 63,056,071 63,119,635 RGD:8554872
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:8554872
G Ttf1 transcription termination factor 1 JBrowse link 3 7,635,630 7,660,153 RGD:8554872
G Uck1 uridine-cytidine kinase 1 JBrowse link 3 11,271,874 11,277,757 RGD:8554872
G Vav2 vav guanine nucleotide exchange factor 2 JBrowse link 3 5,811,504 5,976,311 RGD:8554872
G Wdr5 WD repeat domain 5 JBrowse link 3 6,061,892 6,080,724 RGD:8554872
type II Ehlers-Danlos Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
RGD:11554173
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
RGD:7240710
type III Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:11041770
RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Tnxb tenascin XB RGD:8554872
X-linked Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atg4a autophagy related 4A, cysteine peptidase JBrowse link X 112,328,907 112,403,157 RGD:8554872
G Col4a5 collagen type IV alpha 5 chain JBrowse link X 112,769,595 112,983,720 RGD:7240710
RGD:8554872
G Col4a6 collagen type IV alpha 6 chain JBrowse link X 112,405,647 112,768,337 RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      Skin and Connective Tissue Diseases 4236
        connective tissue disease 2790
          collagen disease 283
            Alport syndrome + 13
            Cardiomyopathy Hypogonadism Collagenoma Syndrome 0
            Collagenosis, Familial Reactive Perforating 0
            Ehlers-Danlos syndrome + 87
            Familial Cutaneous Collagenoma 1
            Keloid + 37
            Kniest dysplasia 1
            Necrobiotic Disorders + 0
            disseminated eosinophilic collagen disease 0
            epidermolysis bullosa dystrophica + 4
            mixed connective tissue disease 8
            osteogenesis imperfecta + 36
            polymyalgia rheumatica 6
            scleroderma + 115
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.