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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.



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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