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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: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.


show annotations for term's descendants           Sort by:
 
Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Alport syndrome ClinVar PMID:30311386 NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain susceptibility ISO DNA:deletion, nonsense mutations
ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Congenital hereditary hematuria
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1400291 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 More... RGD:1600924 NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome ClinVar PMID:1721625 PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO Alport Syndrome, OMIM:301050, DNA:deletion:exons
ClinVar Annotator: match by term: Alport syndrome		 ClinVar
RGD		 PMID:2349482 PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651292 More... RGD:1600687 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Alport syndrome ClinVar PMID:30311386 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*16 (human) RGD PMID:15182324 RGD:7365078 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
AMME complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a6 collagen type IV alpha 6 chain ISO OMIM NCBI chr  X:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500 		JBrowse link
autosomal dominant Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant
ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant		 OMIM
ClinVar		 PMID:1400291 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 More... NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant		 ClinVar PMID:9536098 PMID:9792860 PMID:11961012 PMID:12631110 PMID:12748344 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant
ClinVar Annotator: match by OMIM:131750		 OMIM
ClinVar		 PMID:1680286 PMID:2653224 PMID:7577595 PMID:7861014 PMID:8170945 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
autosomal recessive Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:15716328 RGD:5688157 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE		 OMIM
ClinVar		 PMID:1400291 PMID:7633417 PMID:7780062 PMID:7987301 PMID:7987396 More... NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar Annotator: match by term: Alport syndrome type 2		 OMIM
ClinVar		 PMID:7987396 PMID:8787673 PMID:9195222 PMID:9792860 PMID:11961012 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISS OMIM:203780 MouseDO NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244 		JBrowse link
brittle cornea syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: BRITTLE CORNEA SYNDROME 1
ClinVar Annotator: match by term: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility		 ClinVar PMID:28492532 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1
ClinVar Annotator: match by OMIM:229200
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 More... NCBI chr19:50,282,434...50,324,010 JBrowse link
brittle cornea syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 2
ClinVar Annotator: match by OMIM:614170
ClinVar Annotator: match by This custom term has been created by RGD curators.		 OMIM
ClinVar		 PMID:8458232 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 More... NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301 		JBrowse link
Bruck syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISS
ISO		 OMIM:259450 | OMIM:609220
ClinVar Annotator: match by term: Bruck Syndrome		 MouseDO
ClinVar		 PMID:25741868 NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISS OMIM:259450 | OMIM:609220 MouseDO NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255 		JBrowse link
Bruck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Bruck syndrome 1
ClinVar Annotator: match by term: Kuskokwim disease
ClinVar Annotator: match by OMIM:259450		 ClinVar
OMIM		 PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 More... NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
Bruck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Bruck syndrome 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:609220		 OMIM
ClinVar		 PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 More... NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255 		JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole-Carpenter syndrome		 CTD
ClinVar		 PMID:25741868 NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500 		JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:211,418,557...211,526,588
Ensembl chr 2:211,418,623...211,526,587 		JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 OMIM
ClinVar		 PMID:25683117 PMID:25741868 NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500 		JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec24d SEC24 homolog D, COPII coat complex component ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 2
ClinVar Annotator: match by term: Cole-carpenter syndrome 2		 OMIM
ClinVar		 PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:30462379 NCBI chr 2:211,418,557...211,526,588
Ensembl chr 2:211,418,623...211,526,587 		JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 OMIM
ClinVar		 PMID:15728585 PMID:16407265 PMID:17206620 PMID:23692737 PMID:25944380 More... NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
ClinVar Annotator: match by term: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2		 OMIM
ClinVar		 PMID:10982177 PMID:11288717 PMID:23692737 PMID:25741868 PMID:25944380 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		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 chr14:21,988,067...22,046,732
Ensembl chr14:21,988,144...22,055,476 		JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:112,554,257...112,750,835
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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Agt angiotensinogen ISO protein:increased expression:serum RGD PMID:14730619 RGD:8548886 NCBI chr19:52,529,139...52,549,618
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 2:224,530,475...224,800,420
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 4:45,640,624...45,673,708
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 chr14:17,310,089...17,312,303
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Fcgr2a Fc gamma receptor IIa ISO RGD PMID:8254199 RGD:5147984 NCBI chr13:83,280,782...83,297,535
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 chr13:42,472,625...42,477,308
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 chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:20338043 RGD:12792275 NCBI chr 4:5,214,602...5,219,178
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:151,768,621...151,778,521
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 chr14:32,217,871...32,261,018
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 chr20:4,575,134...4,579,727
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 9:49,472,660...49,588,540
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 chr20:4,656,262...4,666,634
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 chr20:4,636,347...4,650,387
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 5:61,653,773...61,710,777
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 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Wrn WRN RecQ like helicase ISO RGD PMID:16906373 RGD:10042980 NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450 		JBrowse link
Ehlers-Danlos syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 susceptibility ISO RGD PMID:10417273 RGD:1598739 NCBI chr10:34,920,996...35,126,465
Ensembl chr10:34,921,049...35,123,821 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 susceptibility ISO DNA:transition:exon;808C>T RGD PMID:10473568 RGD:1599433 NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO
ISS		 DNA:transition mutation:splice junction:
OMIM:225400		 MouseDO
RGD		 PMID:24443344 RGD:11571617 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO RGD PMID:15077201 RGD:1581198 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon
DNA:deletion:promoter, exons, introns		 ClinVar
CTD
RGD		 PMID:2049575 PMID:21086191 PMID:24033266 PMID:25637381 PMID:25741868 More... RGD:1300381, RGD:11041602, RGD:11041599, RGD:7257554 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome
DNA:repeat:intron:IVS17 (human)		 ClinVar
RGD		 PMID:12145749 PMID:11278977 PMID:10777716 PMID:8752669 RGD:1581210, RGD:1581211, RGD:1581212, RGD:734808 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO EDS type 1, OMIM:130000, EDS type 2, OMIM:130010, DNA:deletions RGD PMID:9425231 RGD:734809 NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154 		JBrowse link
G Dcn decorin ISS OMIM:225400 MouseDO NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Lox lysyl oxidase ISO RGD PMID:8638917 RGD:1581895 NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISS
ISO		 OMIM:225400
ClinVar Annotator: match by term: Ehlers-Danlos syndrome		 MouseDO
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G74D (human)		 CTD
RGD		 PMID:18985159 PMID:18985159 PMID:18985159 RGD:11553861, RGD:11553861 NCBI chr 3:77,039,411...77,047,536
Ensembl chr 3:77,037,565...77,049,226 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:plasma: RGD PMID:24399159 RGD:11073604 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tnxb tenascin XB ISO RGD PMID:11642233 RGD:1599494
Ehlers-Danlos syndrome arthrochalasia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 ClinVar PMID:2404284 PMID:8347685 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A
ClinVar Annotator: match by term: Arthrochalasis multiplex congenita
ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type		 ClinVar
OMIM
RGD		 PMID:1867198 PMID:2037280 PMID:2767050 PMID:3082886 PMID:6462220 More... RGD:734803 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by OMIM:130060
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1		 ClinVar PMID:25441681 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A ClinVar PMID:10471441 PMID:10602121 PMID:10946364 PMID:11992482 PMID:12145749 More... NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154 		JBrowse link
Ehlers-Danlos syndrome arthrochalasia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 ClinVar PMID:9443882 PMID:18311573 PMID:21667357 PMID:22206639 PMID:25944380 More... NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2		 ClinVar
OMIM		 PMID:1556139 PMID:1577745 PMID:1712342 PMID:1978725 PMID:1990839 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
Ehlers-Danlos syndrome cardiac valvular type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:225320		 OMIM
ClinVar
CTD		 PMID:3049731 PMID:3383844 PMID:7695699 PMID:7860070 PMID:8094076 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
Ehlers-Danlos syndrome classic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423 		JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554 		JBrowse link
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 ClinVar PMID:25741868 PMID:30759870 NCBI chr14:80,738,800...80,748,878
Ensembl chr14:80,738,892...80,748,877 		JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:12,028,895...12,144,468
Ensembl chr 3:12,028,954...12,144,465 		JBrowse link
G Barhl1 BarH-like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:12,241,327...12,248,649
Ensembl chr 3:12,241,327...12,248,649 		JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577 		JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,335,881...10,352,437
Ensembl chr 3:10,335,881...10,343,406 		JBrowse link
G Casd1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 4:32,658,888...32,739,224
Ensembl chr 4:32,658,748...32,739,202 		JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035 		JBrowse link
G Cfap77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:12,258,453...12,381,319
Ensembl chr 3:12,258,453...12,381,319 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 ClinVar PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 More... NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE		 ClinVar PMID:1978725 PMID:1990009 PMID:2052622 PMID:2454224 PMID:2777808 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by OMIM:130000
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:7695699 PMID:8218237 PMID:8575750 PMID:8752669 PMID:8923000 More... NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO
ISS		 ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
OMIM:130000		 ClinVar
MouseDO		 PMID:2855059 PMID:7695699 PMID:8218237 PMID:9425231 PMID:9536098 More... NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Ddx31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:12,172,829...12,238,392
Ensembl chr 3:12,172,836...12,238,873 		JBrowse link
G Fam163b family with sequence similarity 163, member B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,437,383...10,466,458
Ensembl chr 3:10,437,383...10,466,458 		JBrowse link
G Fcnb ficolin B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:11,393,771...11,402,198
Ensembl chr 3:11,393,739...11,402,151 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:11,826,131...11,829,745 JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942 		JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:8,627,911...8,636,335 		JBrowse link
G Gtf3c4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:12,154,803...12,172,795
Ensembl chr 3:12,154,805...12,172,725 		JBrowse link
G Gtf3c5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:11,893,867...11,914,187
Ensembl chr 3:11,893,875...11,914,180 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667 		JBrowse link
G Lcn1 lipocalin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577 		JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:8,636,548...8,652,200 		JBrowse link
G Lum lumican ISS OMIM:130000 MouseDO NCBI chr 7:32,358,990...32,365,794
Ensembl chr 7:32,358,614...32,365,793 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,233,754...10,238,836
Ensembl chr 3:10,233,754...10,238,836 		JBrowse link
G Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:12,629,593...12,803,340
Ensembl chr 3:12,629,603...12,803,339 		JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:11,801,310...11,806,341
Ensembl chr 3:11,801,310...11,806,313 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:25741868 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343 		JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890 		JBrowse link
G Obp2a odorant binding protein 2A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:8,505,990...8,509,269
Ensembl chr 3:8,505,990...8,509,269 		JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:11,520,522...11,558,240
Ensembl chr 3:11,520,729...11,558,239 		JBrowse link
G Paep progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430 		JBrowse link
G Pierce1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:11,797,031...11,801,568
Ensembl chr 3:11,797,031...11,801,568 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
G Ppp1r26 protein phosphatase 1, regulatory subunit 26 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:11,781,504...11,790,076
Ensembl chr 3:11,781,295...11,790,073 		JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:11,839,686...11,880,059
Ensembl chr 3:11,839,416...11,880,059 		JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:12,898,349...13,016,234
Ensembl chr 3:12,898,266...13,013,984 		JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,280,654...10,291,003
Ensembl chr 3:10,280,654...10,290,996 		JBrowse link
G Rpl7a ribosomal protein L7a ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,239,026...10,241,703
Ensembl chr 3:10,239,001...10,241,716 		JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712 		JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Sgce sarcoglycan, epsilon ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 4:32,771,477...32,842,238
Ensembl chr 4:32,771,477...32,842,254 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690 		JBrowse link
G Slc2a6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,348,395...10,355,208
Ensembl chr 3:10,348,395...10,355,208 		JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481 		JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388 		JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:12,019,376...12,028,801
Ensembl chr 3:12,019,363...12,029,119 		JBrowse link
G Stkld1 serine/threonine kinase-like domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,261,583...10,280,850
Ensembl chr 3:10,261,828...10,280,566 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315 		JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,244,654...10,248,502
Ensembl chr 3:10,244,654...10,250,077 		JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,248,360...10,261,537
Ensembl chr 3:10,241,837...10,263,315 		JBrowse link
G Surf6 surfeit 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,221,450...10,232,306
Ensembl chr 3:10,221,452...10,232,251 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:30675029 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:12,384,626...12,409,257
Ensembl chr 3:12,384,655...12,409,257 		JBrowse link
G Uck1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:15,538,580...15,544,465
Ensembl chr 3:15,538,591...15,544,465 		JBrowse link
G Vav2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,584,688...10,754,128
Ensembl chr 3:10,584,688...10,754,052 		JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,836,964...10,856,682
Ensembl chr 3:10,837,025...10,856,671 		JBrowse link
G Wdr75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr 9:47,903,166...47,933,399
Ensembl chr 9:47,903,200...47,933,399 		JBrowse link
Ehlers-Danlos syndrome classic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome classic type 2
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2		 CTD
ClinVar		 PMID:7695699 PMID:8218237 PMID:8752669 PMID:9042913 PMID:19344236 More... NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2
ClinVar Annotator: match by term: Ehlers-Danlos syndrome classic type 2		 ClinVar
OMIM		 PMID:2855059 PMID:9536098 PMID:11940702 PMID:17576681 PMID:24033266 More... NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154 		JBrowse link
Ehlers-Danlos syndrome classic-like 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency
ClinVar Annotator: match by term: Ehlers-Danlos-like syndrome due to tenascin-X deficiency
ClinVar Annotator: match by OMIM:606408		 OMIM
ClinVar		 PMID:1620134 PMID:9288108 PMID:11642233 PMID:11925569 PMID:12865992 More...
Ehlers-Danlos syndrome classic-like 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 2		 ClinVar
OMIM		 PMID:25741868 PMID:27023906 PMID:29606302 NCBI chr14:80,738,800...80,748,878
Ensembl chr14:80,738,892...80,748,877 		JBrowse link
Ehlers-Danlos syndrome dermatosparaxis type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type vii, autosomal recessive
ClinVar Annotator: match by OMIM:225410
DNA:deletions: :		 OMIM
ClinVar
RGD		 PMID:1642226 PMID:7735500 PMID:8215497 PMID:8986271 PMID:9536098 More... RGD:1598738 NCBI chr10:34,920,996...35,126,465
Ensembl chr10:34,921,049...35,123,821 		JBrowse link
G Canx calnexin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:34,623,865...34,656,866
Ensembl chr10:34,625,191...34,656,821 		JBrowse link
G Cby3 chibby family member 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:34,680,926...34,683,176
Ensembl chr10:34,677,770...34,682,784 		JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846 		JBrowse link
G LOC502109 similar to FLJ46321 protein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr17:160,144...164,208
Ensembl chr17:159,398...164,270 		JBrowse link
G Ltc4s leukotriene C4 synthase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651 		JBrowse link
G Maml1 mastermind-like transcriptional coactivator 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:34,588,639...34,624,298
Ensembl chr10:34,588,646...34,623,338 		JBrowse link
G Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:34,548,918...34,559,229
Ensembl chr10:34,549,433...34,559,229 		JBrowse link
G Rufy1 RUN and FYVE domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:34,705,741...34,750,644
Ensembl chr10:34,705,741...34,750,644 		JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:34,525,517...34,536,685
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
Ehlers-Danlos syndrome hypermobility type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO DNA:missense mutation: :p.G637S (2512G>A) (human)
ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type		 ClinVar
RGD		 PMID:25741868 PMID:25758994 PMID:26854089 PMID:28087566 PMID:28492532 More... RGD:11041770 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:25326637
Ehlers-Danlos syndrome kyphoscoliotic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE ClinVar NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:225400		 OMIM
ClinVar
CTD		 PMID:222849 PMID:416188 PMID:1345174 PMID:3110540 PMID:3931636 More... NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar Annotator: match by OMIM:614557		 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 More... NCBI chr 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528 		JBrowse link
Ehlers-Danlos syndrome musculocontractural type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601776		 OMIM
ClinVar
CTD		 PMID:1184396 PMID:9084938 PMID:10766984 PMID:11370633 PMID:12508273 More... NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548 		JBrowse link
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2
ClinVar Annotator: match by OMIM:615539		 OMIM
ClinVar		 PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992 		JBrowse link
Ehlers-Danlos syndrome periodontal type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1r complement C1r ISO ClinVar Annotator: match by OMIM:130080
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 8		 ClinVar
OMIM		 PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More... NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE ClinVar PMID:27745832 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303 		JBrowse link
Ehlers-Danlos syndrome periodontal type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1r complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2 ClinVar PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:27663155 More... NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2		 ClinVar
OMIM		 PMID:25741868 PMID:27745832 PMID:28492532 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303 		JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO OMIM NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573 		JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:166,500,781...166,515,477
Ensembl chr 5:166,500,781...166,515,481 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003 		JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar
OMIM		 PMID:19492091 PMID:23664117 PMID:24766538 PMID:25149931 PMID:25741868 More... NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:1221956 PMID:1640425 PMID:3631078 PMID:10473568 PMID:10506123 More... NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:28492532 NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:28492532 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651 		JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:166,648,494...166,648,582 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366 		JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543 		JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:166,496,755...166,500,611
Ensembl chr 5:166,496,755...166,500,611 		JBrowse link
G RGD1311517 similar to RIKEN cDNA 9430015G10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:166,720,408...166,726,236
Ensembl chr 5:166,724,984...166,725,751 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:28492532 NCBI chr 5:166,469,589...166,472,742
Ensembl chr 5:166,469,589...166,472,742 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804 		JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
DNA:deletion:cds:c.483_491del9 (human)
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612350		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:18513683 PMID:18985159 PMID:24033266 More... RGD:11553863 NCBI chr 3:77,039,411...77,047,536
Ensembl chr 3:77,037,565...77,049,226 		JBrowse link
Ehlers-Danlos Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4
ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV		 ClinVar PMID:1352273 PMID:1357232 PMID:1370809 PMID:1496983 PMID:1568754 More... NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532 NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154 		JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481 		JBrowse link
G Wdr75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr 9:47,903,166...47,933,399
Ensembl chr 9:47,903,200...47,933,399 		JBrowse link
epidermolysis bullosa dystrophica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain susceptibility ISO DNA:insertion-deletion
ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
ClinVar Annotator: match by term: Hallopeau-Siemens Disease
ClinVar Annotator: match by term: Epidermolysis Bullosa Dystrophica
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR
ClinVar Annotator: match by OMIM:226600		 ClinVar
OMIM
RGD		 PMID:2653224 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7861014 More... RGD:1600946 NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Mir711 microRNA 711 ISO ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa ClinVar PMID:25741868 NCBI chr 8:109,621,975...109,622,042
Ensembl chr 8:109,621,975...109,622,042 		JBrowse link
G Mmp1 matrix metallopeptidase 1 severity ISO DNA:insertion:promoter:g.-1607_-1606insG (human) OMIM
RGD		 PMID:18030675 RGD:8549728 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant		 ClinVar PMID:7695699 PMID:8218237 PMID:8755915 PMID:9536098 PMID:9804332 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
Epidermolysis Bullosa Pruriginosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA
ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant		 OMIM
ClinVar		 PMID:8755915 PMID:9182828 PMID:9242516 PMID:9718359 PMID:9856844 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
epidermolysis bullosa with congenital localized absence of skin and deformity of nails term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE OMIM
ClinVar		 PMID:2425097 PMID:5910871 PMID:8618021 PMID:8755915 PMID:10408773 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
Familial Cutaneous Collagenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd3 LEM domain containing 3 ISO DNA:transition mutation:intron: 1522+1G>A(human) RGD PMID:17223882 RGD:11553841 NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474 		JBrowse link
gnathodiaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia
ClinVar Annotator: match by term: Osteogenesis imperfecta Levin type
DNA:missense mutations:exon:p.C356R, p.C356G (human)
DNA:missense mutation:exon:p.T513I (c.1538C>T) (human)
ClinVar Annotator: match by OMIM:166260		 OMIM
ClinVar
RGD		 PMID:5816667 PMID:9536098 PMID:9673985 PMID:15124103 PMID:16199547 More... RGD:11570566, RGD:11570556 NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555 		JBrowse link
Keloid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt2 actin-related protein T2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629 		JBrowse link
G Agpat5 1-acylglycerol-3-phosphate O-acyltransferase 5 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chr16:70,939,480...70,985,761
Ensembl chr16:70,943,135...70,985,560 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023 		JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233 		JBrowse link
G Aspn asporin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041 		JBrowse link
G Capg capping actin protein, gelsolin like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 4:104,594,743...104,611,856
Ensembl chr 4:104,594,753...104,611,856 		JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Crabp1 cellular retinoic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 8:55,138,363...55,159,360
Ensembl chr 8:55,151,285...55,159,360 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656 		JBrowse link
G Fgg fibrinogen gamma chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322 		JBrowse link
G Foxl2 forkhead box L2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424 		JBrowse link
G Ftl1 ferritin light chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:95,936,390...95,938,234
Ensembl chr 1:95,936,387...95,939,725 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:158,224,175...158,231,675
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Lgals1 galectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345 		JBrowse link
G Mif macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 		JBrowse link
G Mydgf myeloid-derived growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:999,659...1,008,895
Ensembl chr 9:1,000,722...1,008,822 		JBrowse link
G Myl6b myosin light chain 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr  X:40,572,012...40,572,991 JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chr 8:73,384,095...73,468,951
Ensembl chr 8:73,383,695...73,468,951 		JBrowse link
G Pfn1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631 		JBrowse link
G Prdx1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 5:130,147,276...130,162,850
Ensembl chr 5:130,147,204...130,162,856 		JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194 		JBrowse link
G Ran RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr12:27,674,049...27,678,598
Ensembl chr12:27,674,050...27,678,276 		JBrowse link
G S100a10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661 		JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254 		JBrowse link
G S100a8 S100 calcium binding protein A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643 		JBrowse link
G S100a9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230 		JBrowse link
G Serpinb5 serpin family B member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr13:22,985,557...23,005,756
Ensembl chr13:22,985,557...23,005,756 		JBrowse link
G Serpinf1 serpin family F member 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:skin of body (human)		 CTD
RGD		 PMID:20128793 PMID:20128793 RGD:27226709 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Sfn stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 Ensembl chr 5:145,826,201...145,831,314 JBrowse link
G Tagln transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668 		JBrowse link
G Tpm1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
G Tpsb2 tryptase beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr10:14,381,779...14,383,571
Ensembl chr10:14,382,013...14,383,569 		JBrowse link
Kniest dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Kniest dysplasia
ClinVar Annotator: match by OMIM:156550
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4014370 PMID:4214536 PMID:7849719 PMID:7874117 PMID:7981752 More... NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546 		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 4:45,640,624...45,673,708
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 chr10:67,005,424...67,007,222
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 8:123,734,465...123,742,483
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 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand ISO RGD PMID:17102953 RGD:12903974 NCBI chr13:74,151,519...74,172,760
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 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:20808962 RGD:4892610 NCBI chr 1:226,995,334...227,054,381
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 chr14:32,217,871...32,261,018
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 6:104,816,102...104,826,685
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 chr12:19,601,272...19,611,657
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 9:49,472,660...49,588,540
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 chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
Lipodermatosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO mRNA:increased expression:dermis RGD PMID:15727634 RGD:5688298 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
localized scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA,protein:increased expression:skin: RGD PMID:15803328 RGD:8662838 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15863969 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:14712301 RGD:8548627 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:7916356 RGD:8158116 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12920362 RGD:8549537 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15726408 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:9804345 RGD:1582543 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:7510487 RGD:7394847 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9843018 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
mixed connective tissue disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas cell surface death receptor ISO protein:increased expression:serum (human) RGD PMID:9182923 RGD:8662437 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Ifng interferon gamma ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism:cds:HLA-DRB1*04 (human) RGD PMID:12559632 RGD:5147801 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO RGD PMID:2968364 RGD:10448928 NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339 		JBrowse link
G Snrpc small nuclear ribonucleoprotein polypeptide C ISO associated with Hypertension, Pulmonary RGD PMID:10555891 RGD:10766447 NCBI chr20:5,888,453...5,906,638
Ensembl chr20:5,888,453...5,906,638 		JBrowse link
G Tlr3 toll-like receptor 3 ISO RGD PMID:16453294 RGD:5129221 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
occipital horn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Occipital horn syndrome
ClinVar Annotator: match by term: Cutis laxa, X-linked
ClinVar Annotator: match by term: EDS IX
DNA:snp:intron:c.2553+3A>C (mouse)
DNA:transversion:intron:g.IVS10+3A>T (human)
ClinVar Annotator: match by OMIM:304150		 OMIM
ClinVar
RGD		 PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006 PMID:9880610 More... RGD:11340205, RGD:11252184 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
osteogenesis imperfecta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:24033266 PMID:25741868 NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776 		JBrowse link
G Col1a1 collagen type I alpha 1 chain severity ISO ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Lobstein disease
ClinVar Annotator: match by term: Lobstein's Disease
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
DNA:mutation:splice junction:c.1875+1G>A (IVS 27+1G>A)(human)
DNA:mutations:exons: c.97G > A,c.1209T > A,c.3702C > T(human)
DNA:deletion: :
DNA:mutation:exon:c.3235G>A(p.G1079S)(human)
DNA:transition mutation:splice junction:
DNA:transversion mutation:intron:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:166200
DNA:snp:intron:c.3207+1G>A (human)		 ClinVar
CTD
RGD		 PMID:1137656 PMID:2037280 PMID:3722186 PMID:7691343 PMID:7695699 More... RGD:734802, RGD:11667068, RGD:11667066, RGD:11667065, RGD:11571620, RGD:11571617, RGD:11571614, RGD:8552657 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO
ISS		 DNA:snp:cds:p.G328S (human)
ClinVar Annotator: match by term: Lobstein disease
ClinVar Annotator: match by term: Brittle bone disease
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein's Disease
DNA:mutation:exon:c.87T > C(human)
ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
DNA:mutations, haplotype (human)
DNA:deletion:exon:3983del (mouse)		 ClinVar
MouseDO
RGD		 PMID:458828 PMID:1978725 PMID:2010058 PMID:2824475 PMID:2985635 More... RGD:1581197, RGD:11667066, RGD:734804, RGD:7248772 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Crtapl1 cartilage associated protein-like 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive		 CTD
ClinVar		 PMID:18566967 NCBI chr 8:114,047,929...114,067,648
Ensembl chr 8:114,047,933...114,067,631 		JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
G Lrp5 LDL receptor related protein 5 treatment ISO RGD PMID:24677211 RGD:12792279 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Osteogenesis imperfecta		 CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:18566967 PMID:24498616 PMID:25741868 More... NCBI chr 5:132,841,868...132,856,664
Ensembl chr 5:132,841,928...132,856,659 		JBrowse link
G Ppib peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar NCBI chr 8:66,603,877...66,609,734
Ensembl chr 8:66,603,861...66,630,428 		JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Osteogenesis imperfecta		 ClinVar PMID:25741868 PMID:28116328 PMID:32413570 PMID:33093841 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Serpinh1 serpin family H member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:28492532 NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801 		JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:24033266 PMID:25741868 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
G Smad4 SMAD family member 4 ISS MouseDO NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISS MouseDO NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749 		JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar NCBI chr 8:66,609,914...66,612,932
Ensembl chr 8:66,609,970...66,612,850 		JBrowse link
G Sp7 Sp7 transcription factor ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr 7:133,484,609...133,494,788
Ensembl chr 7:133,484,609...133,494,847 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:1793673 NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396 		JBrowse link
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 NCBI chr 7:129,938,604...129,942,651
Ensembl chr 7:129,938,604...129,942,651 		JBrowse link
osteogenesis imperfecta type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta		 ClinVar
OMIM		 PMID:1445258 PMID:1634225 PMID:1737847 PMID:1988452 PMID:2035536 More... NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta		 ClinVar PMID:2993307 PMID:3372533 PMID:6092353 PMID:7695699 PMID:7860070 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118 		JBrowse link
G Pdk2 pyruvate dehydrogenase kinase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:79,972,550...79,987,074
Ensembl chr10:79,972,556...79,987,085 		JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083 		JBrowse link
G Samd14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:79,957,111...79,972,347
Ensembl chr10:79,957,758...79,972,341 		JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:79,904,698...79,922,813
Ensembl chr10:79,908,738...79,922,813 		JBrowse link
osteogenesis imperfecta type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinh1 serpin family H member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 10
ClinVar Annotator: match by term: OI, TYPE X
ClinVar Annotator: match by OMIM:613848		 OMIM
ClinVar		 PMID:20188343 PMID:25510505 PMID:25741868 PMID:28492532 NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801 		JBrowse link
osteogenesis imperfecta type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type XI
ClinVar Annotator: match by term: OI, TYPE XI
ClinVar Annotator: match by OMIM:610968		 OMIM
ClinVar		 PMID:20362275 PMID:20839288 PMID:21567934 PMID:25741868 PMID:27362741 More... NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
osteogenesis imperfecta type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: OI, TYPE XII
ClinVar Annotator: match by term: Osteogenesis imperfecta, type XII		 ClinVar PMID:20362275 PMID:20839288 PMID:21567934 PMID:22107750 PMID:22949511 More... NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
G Sp7 Sp7 transcription factor ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 12
ClinVar Annotator: match by OMIM:613849		 OMIM
ClinVar		 PMID:20579626 PMID:25741868 PMID:29382611 NCBI chr 7:133,484,609...133,494,788
Ensembl chr 7:133,484,609...133,494,847 		JBrowse link
osteogenesis imperfecta type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii
ClinVar Annotator: match by term: OI, TYPE XIII
ClinVar Annotator: match by OMIM:614856		 OMIM
ClinVar		 PMID:15542026 PMID:22052668 PMID:22482805 PMID:24648371 PMID:25214535 More... NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776 		JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: OI, TYPE XIII ClinVar NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
osteogenesis imperfecta type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem38b transmembrane protein 38B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiv OMIM
ClinVar		 PMID:25741868 NCBI chr 5:68,460,304...68,496,026
Ensembl chr 5:68,460,304...68,496,025 		JBrowse link
osteogenesis imperfecta type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xv
ClinVar Annotator: match by OMIM:615220		 OMIM
ClinVar		 PMID:22653731 PMID:23434763 PMID:23499309 PMID:23499310 PMID:23656646 More... NCBI chr 7:129,938,604...129,942,651
Ensembl chr 7:129,938,604...129,942,651 		JBrowse link
G Wnt10b Wnt family member 10B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xv ClinVar PMID:25741868 PMID:29481978 NCBI chr 7:129,922,088...129,927,892
Ensembl chr 7:129,922,088...129,927,892 		JBrowse link
osteogenesis imperfecta type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb3l1 cAMP responsive element binding protein 3-like 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xvi ClinVar
OMIM		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29936144 PMID:30657919 NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456 		JBrowse link
osteogenesis imperfecta type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sparc secreted protein acidic and cysteine rich ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xvii OMIM
ClinVar		 PMID:25741868 PMID:26027498 NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396 		JBrowse link
osteogenesis imperfecta type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tent5a terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XVIII
ClinVar Annotator: match by term: Osteogenesis imperfecta, type 18		 ClinVar
OMIM		 PMID:25741868 PMID:29358272 NCBI chr 8:86,222,294...86,229,045
Ensembl chr 8:86,225,357...86,229,045 		JBrowse link
osteogenesis imperfecta type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XIX
ClinVar Annotator: match by term: Osteogenesis imperfecta, type 19		 ClinVar
OMIM		 PMID:27380894 NCBI chr  X:37,410,914...37,461,130
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
osteogenesis imperfecta type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II
ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone
ClinVar Annotator: match by OMIM:166210		 OMIM
ClinVar		 PMID:1511982 PMID:1613761 PMID:1864604 PMID:1874719 PMID:2035536 More... NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA
ClinVar Annotator: match by term: OI, TYPE II
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II
ClinVar Annotator: match by OMIM:166210		 OMIM
ClinVar		 PMID:1301191 PMID:1385413 PMID:1711048 PMID:1874719 PMID:2777764 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISS OMIM:166210 MouseDO NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749 		JBrowse link
osteogenesis imperfecta type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XX OMIM
ClinVar		 PMID:31564437 NCBI chr 1:137,866,707...137,879,999
Ensembl chr 1:137,874,242...137,879,999 		JBrowse link
osteogenesis imperfecta type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdelr2 KDEL endoplasmic reticulum protein retention receptor 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type 21
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XXI		 OMIM
ClinVar		 PMID:33053334 PMID:33964184 NCBI chr12:11,138,820...11,157,117
Ensembl chr12:11,138,820...11,157,153 		JBrowse link
osteogenesis imperfecta type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC ClinVar PMID:1613761 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
osteogenesis imperfecta type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III
ClinVar Annotator: match by term: OI type III
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE III/IV
ClinVar Annotator: match by OMIM:259420		 OMIM
ClinVar		 PMID:1445258 PMID:1770532 PMID:2037280 PMID:2511192 PMID:2794057 More... NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI type III
ClinVar Annotator: match by term: Osteogenesis imperfecta type III
ClinVar Annotator: match by OMIM:259420		 OMIM
ClinVar		 PMID:2052622 PMID:2064612 PMID:2824475 PMID:3023615 PMID:3995789 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154 		JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 5:132,841,868...132,856,664
Ensembl chr 5:132,841,928...132,856,659 		JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISS OMIM:259420 MouseDO NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749 		JBrowse link
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 7:129,938,604...129,942,651
Ensembl chr 7:129,938,604...129,942,651 		JBrowse link
osteogenesis imperfecta type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OI type IV
ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV
ClinVar Annotator: match by term: Osteogenesis imperfecta type 4
ClinVar Annotator: match by OMIM:166220		 OMIM
ClinVar		 PMID:1718984 PMID:2037280 PMID:2745420 PMID:2794057 PMID:7695699 More... NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV
ClinVar Annotator: match by term: OI type IV
ClinVar Annotator: match by OMIM:166220		 OMIM
ClinVar		 PMID:2064612 PMID:2897363 PMID:2993307 PMID:3372533 PMID:6092353 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
osteogenesis imperfecta type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifitm5 interferon induced transmembrane protein 5 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 5
ClinVar Annotator: match by OMIM:610967		 OMIM
ClinVar		 PMID:22863190 PMID:22863195 PMID:23240094 PMID:23408678 PMID:23674381 More... NCBI chr 1:196,045,836...196,052,554
Ensembl chr 1:196,045,666...196,047,232 		JBrowse link
G Suco SUN domain containing ossification factor ISS OMIM:610967 MouseDO NCBI chr13:74,192,808...74,257,896
Ensembl chr13:74,193,573...74,257,896 		JBrowse link
osteogenesis imperfecta type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type VI
ClinVar Annotator: match by OMIM:613982		 OMIM
ClinVar		 PMID:21353196 PMID:23054245 PMID:25565926 PMID:25741868 PMID:27056980 More... NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
osteogenesis imperfecta type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crtapl1 cartilage associated protein-like 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 OMIM
ClinVar		 PMID:9536098 PMID:12110406 PMID:16199547 PMID:17055431 PMID:17192541 More... NCBI chr 8:114,047,929...114,067,648
Ensembl chr 8:114,047,933...114,067,631 		JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 8:114,085,524...114,093,388
Ensembl chr 8:114,084,831...114,094,286 		JBrowse link
osteogenesis imperfecta type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3h1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 8
ClinVar Annotator: match by OMIM:610915		 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17277775 PMID:17576681 PMID:18566967 More... NCBI chr 5:132,841,868...132,856,664
Ensembl chr 5:132,841,928...132,856,659 		JBrowse link
osteogenesis imperfecta type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppib peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 9
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IX
ClinVar Annotator: match by OMIM:259440		 OMIM
ClinVar		 PMID:20089953 PMID:20484404 PMID:21282188 PMID:25741868 PMID:28492532 NCBI chr 8:66,603,877...66,609,734
Ensembl chr 8:66,603,861...66,630,428 		JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IX
ClinVar Annotator: match by term: Osteogenesis imperfecta type 9		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:66,609,914...66,612,932
Ensembl chr 8:66,609,970...66,612,850 		JBrowse link
osteoporosis-pseudoglioma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Osteoporosis with pseudoglioma
DNA:mutations:cds:p.W478R,p.W504C(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:259770		 OMIM
ClinVar
CTD
RGD		 PMID:11719191 PMID:11793484 PMID:12579474 PMID:14727154 PMID:15024691 More... RGD:12792280, RGD:12792277 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome
ClinVar Annotator: match by term: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME		 OMIM
ClinVar		 PMID:2235526 PMID:9050868 PMID:9536098 PMID:11577371 PMID:17576681 More... NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
polymyalgia rheumatica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crh corticotropin releasing hormone no_association ISO DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Crp C-reactive protein treatment ISO RGD PMID:2859021 RGD:9495925 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30657865 RGD:14746966 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:plasma, endothelial microparticle (human) RGD PMID:22211720 RGD:6771319 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
pretibial dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA, PRETIBIAL
ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive
ClinVar Annotator: match by term: Pretibial epidermolysis bullosa
ClinVar Annotator: match by OMIM:131850		 OMIM
ClinVar		 PMID:7861014 PMID:8541842 PMID:8755915 PMID:9215684 PMID:9892921 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
Progressive Renal Failure with Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calca calcitonin-related polypeptide alpha ISO RGD PMID:15928032 RGD:7204486 NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105 		JBrowse link
recessive dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO
ISS		 ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive
ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
ClinVar Annotator: match by term: RDEB, severe generalized
OMIM:226600		 ClinVar
MouseDO		 PMID:2653224 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7861014 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISS OMIM:226600 MouseDO NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273 		JBrowse link
G Mir711 microRNA 711 ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive ClinVar PMID:28492532 NCBI chr 8:109,621,975...109,622,042
Ensembl chr 8:109,621,975...109,622,042 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISS OMIM:226600 MouseDO NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		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: Reynolds syndrome OMIM
ClinVar		 PMID:20522425 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 More... NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017 		JBrowse link
Salcedo Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Nail patella-like renal disease
ClinVar Annotator: match by term: Focal Segmental Glomerulosclerosis 10		 OMIM
ClinVar		 PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 More... NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899 		JBrowse link
scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Scleroderma ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:77,039,411...77,047,536
Ensembl chr 3:77,037,565...77,049,226 		JBrowse link
Sclerotylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` ISO ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities OMIM
ClinVar		 PMID:4298032 PMID:8731679 PMID:10631162 PMID:24909267 PMID:29409814 NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563 		JBrowse link
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 chr10:90,910,316...90,930,437
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 1:231,746,527...231,759,307
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 3:10,299,264...10,338,464
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 chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Agt angiotensinogen ISO protein:decreased expression:plasma RGD PMID:17360781 RGD:8548889 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Anxa5 annexin A5 severity ISO RGD PMID:21124692 RGD:7242029 NCBI chr 2:119,314,007...119,344,703
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 9:75,820,782...75,851,471
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 2:224,530,475...224,800,420
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 3:96,165,042...96,215,621
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 9:2,087,437...2,114,366
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 4:45,640,624...45,673,708
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 chr10:67,005,424...67,007,222
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 9:84,389,031...84,391,629
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 chr10:68,451,388...68,452,938
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 chr10:68,466,469...68,467,941
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 2:234,562,410...234,565,370
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 1:20,802,199...20,805,315
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 8:123,734,465...123,742,483
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 1:52,474,477...52,508,301
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 chr13:78,043,302...78,118,437
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 chr11:64,142,193...64,200,816
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 chr20:3,970,643...3,976,510
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 chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Clu clusterin ISO protein:increased expression:serum RGD PMID:22350181 RGD:8898558 NCBI chr15:40,161,068...40,200,315
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 5:48,408,543...48,436,099
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 5:148,125,222...148,151,548
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 chr10:79,883,622...79,900,625
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 4:32,563,938...32,598,868
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 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Csf1 colony stimulating factor 1 IEP mRNA:increased expression:skin RGD PMID:22700848 RGD:7257593 NCBI chr 2:195,377,215...195,396,608
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 chr19:10,227,337...10,237,826
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 8:119,785,726...119,799,431
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 chr14:15,704,772...15,706,969
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 chr10:55,166,721...55,171,316
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 chr14:15,722,868...15,727,779
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:66,844,318...66,846,969
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 8:123,434,417...123,439,568
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 chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Eln elastin ISO RGD PMID:22563211 RGD:9585742 NCBI chr12:21,968,544...22,011,929
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 1:41,106,335...41,499,104
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 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G F11r F11 receptor ISO RGD PMID:19153103 RGD:7488918 NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402 		JBrowse link
G F2 coagulation factor II ISO protein:increased expression:plasma: RGD PMID:9374919 RGD:11565087 NCBI chr 3:77,596,196...77,609,486
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 3:112,554,257...112,750,835
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 8:30,831,422...30,950,468
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 chr10:33,913,725...33,954,770
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 6:24,297,898...24,319,157
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 chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677 		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 2:195,649,845...195,655,402
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 chr10:87,152,978...87,187,921
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 4:18,673,736...18,745,582
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 chr12:5,973,062...5,978,565
Ensembl chr12:5,901,586...5,978,565 		JBrowse link
G Hnrnpl heterogeneous nuclear ribonucleoprotein L ISO RGD PMID:21569507 RGD:9999440 NCBI chr 1:84,098,558...84,111,568
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 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Ifng interferon gamma treatment ISO RGD PMID:1418004 RGD:8157622 NCBI chr 7:53,903,339...53,907,375
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 chr14:82,056,347...82,064,083
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 chr10:37,790,130...37,792,687
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:115,348,860...115,408,682
Ensembl chr  X: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 9:23,144,402...23,147,889
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 3:116,577,005...116,583,386
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 9:42,504,917...42,580,958
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 2:120,004,862...120,009,566
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 4:96,580,568...96,672,540
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 1:181,173,108...181,178,720
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 chr19:24,109,698...24,121,977
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 chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:23406616 RGD:12792238 NCBI chr 4:5,214,602...5,219,178
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 4:58,127,577...58,140,665
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 8:25,508,461...25,569,306
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 chr14:32,217,871...32,261,018
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 chr20:3,618,853...3,621,324
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 8:4,658,588...4,679,099
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 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:15642145 RGD:1580577 NCBI chr 3:153,684,158...153,692,118
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 2:174,635,559...174,640,738
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 chr16:22,207,362...22,238,513
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 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360 		JBrowse link
G