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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 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: Alport syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:7987301 PMID:11134255 PMID:12028435 PMID:12631109 PMID:14582039 PMID:14871398 PMID:15880327 PMID:15954103 PMID:17216251 PMID:18385178 PMID:19525337 PMID:20847057 PMID:21862460 PMID:22887978 PMID:23967202 PMID:24033266 PMID:24052634 PMID:24854265 PMID:25229338 PMID:25307543 PMID:25407002 PMID:25514610 PMID:25596306 PMID:25741868 PMID:25888712 PMID:26346198 PMID:26467025 PMID:26795916 PMID:26809805 PMID:26934356 PMID:27391953 PMID:27627812 PMID:27859054 PMID:28492532 PMID:28632965 RGD:1600924 NCBI chr15:128,611,640...128,763,331
Ensembl chr15:128,611,866...128,763,122
JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar PMID:1721625 PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 PMID:12631110 PMID:14582039 PMID:14871398 PMID:15618242 PMID:15880327 PMID:17216251 PMID:17396119 PMID:19129241 PMID:19675380 PMID:20029656 PMID:22887978 PMID:23349334 PMID:23967202 PMID:24033266 PMID:24130771 PMID:25381091 PMID:25514610 PMID:25575550 PMID:25741868 PMID:25755845 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27884173 PMID:28059119 PMID:28492532 PMID:28780565 PMID:29098738 NCBI chr15:128,472,228...128,612,302
Ensembl chr15:128,472,228...128,612,379
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
RGD
ClinVar
PMID:2349482 PMID:8651292 PMID:9848783 PMID:10563487 PMID:11223851 PMID:18083113 PMID:19919694 PMID:23572034 PMID:25741868 PMID:26467025 PMID:27627812 PMID:28492532 RGD:1600687 NCBI chr  X:88,958,837...89,183,306
Ensembl chr  X:88,958,825...89,183,374
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO RGD PMID:22937108 RGD:7175090
G MMP12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,085...33,483,679
JBrowse link
G MMP3 matrix metallopeptidase 3 ISO protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G MYH9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr 5:11,365,603...11,456,475 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:88,634,925...88,750,938
Ensembl chr  X:88,634,925...88,957,402
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 OMIM NCBI chr15:128,611,640...128,763,331
Ensembl chr15:128,611,866...128,763,122
JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
ClinVar PMID:9792860 PMID:11961012 PMID:12631110 PMID:12748344 PMID:15618242 PMID:19129241 PMID:21897443 PMID:24033266 PMID:24052634 PMID:24633401 PMID:25525159 PMID:25596306 PMID:25741868 PMID:26467025 PMID:26809805 PMID:28492532 NCBI chr15:128,472,228...128,612,302
Ensembl chr15:128,472,228...128,612,379
JBrowse link
G MYH9 myosin heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr 5:11,365,603...11,456,475 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 OMIM NCBI chr13:31,262,750...31,295,112 JBrowse link
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:7520042 PMID:8807337 PMID:25741868 PMID:30311386 NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,780,928...17,868,402
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 chr13:29,227,218...29,233,862
Ensembl chr13:29,227,220...29,233,960
JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO OMIM NCBI chr15:128,611,640...128,763,331
Ensembl chr15:128,611,866...128,763,122
JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO OMIM NCBI chr15:128,472,228...128,612,302
Ensembl chr15:128,472,228...128,612,379
JBrowse link
brittle cornea syndrome 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: EHLERS-DANLOS SYNDROME, TYPE VIB
ClinVar Annotator: match by term: Brittle cornea syndrome 1
ClinVar PMID:1184396 PMID:9084938 PMID:10766984 PMID:11370633 PMID:12508273 PMID:16158441 PMID:20004762 PMID:20503305 PMID:20533528 PMID:20842734 PMID:21744491 PMID:22581468 PMID:22987394 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810 PMID:28492532 NCBI chr 1:130,845,103...130,847,203 JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
ClinVar Annotator: match by term: BRITTLE CORNEA SYNDROME 1
ClinVar PMID:28492532 NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,097,397...103,382,115
JBrowse link
G ZNF469 zinc finger protein 469 ISO OMIM NCBI chr 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257
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 OMIM NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,097,397...103,382,115
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 ISO ClinVar Annotator: match by term: Bruck Syndrome ClinVar PMID:25741868 NCBI chr12:20,872,155...20,881,604
Ensembl chr12:20,872,155...20,882,644
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 OMIM NCBI chr12:20,872,155...20,881,604
Ensembl chr12:20,872,155...20,882,644
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 OMIM NCBI chr13:86,402,673...86,513,167
Ensembl chr13:86,401,244...86,513,105
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 chr12:1,121,816...1,131,291
Ensembl chr12:1,121,793...1,131,291
JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:104,560,723...105,005,400
Ensembl chr 8:104,808,940...105,005,400
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 OMIM NCBI chr12:1,121,816...1,131,291
Ensembl chr12:1,121,793...1,131,291
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 OMIM NCBI chr 8:104,560,723...105,005,400
Ensembl chr 8:104,808,940...105,005,400
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 chr 8:65,237,825...65,315,788
Ensembl chr 8:65,238,088...65,315,714
JBrowse link
G FBN1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
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 chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G AGT angiotensinogen ISO protein:increased expression:serum RGD PMID:14730619 RGD:8548886 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
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 8:118,814,352...119,114,973
Ensembl chr 8:118,814,053...119,157,504
JBrowse link
G CAV1 caveolin 1 no_association
susceptibility
ISO DNA:SNPs:enhancer, intron:multiple
DNA:SNPs:intron, 3' utr: (rs729949, rs3815412, rs9920) (human)
RGD PMID:22402147 RGD:8661768 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
G IL10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9034992 RGD:5684371 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL13 interleukin 13 ISO DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) RGD PMID:16832637 RGD:5684369 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:20338043 RGD:12792275 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
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:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860
JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,116...41,856,339
JBrowse link
G STAT4 signal transducer and activator of transcription 4 no_association
susceptibility
ISO DNA:SNP:intron: (rs3821236) (human)
DNA:SNP:intron: (rs7574865) (human)
DNA:SNP:introns: (rs7574865, rs10168266) (human)
RGD PMID:19286670 PMID:23755762 RGD:8661701 RGD:8661714 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,653,861...95,763,448
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,773...25,071,862
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr 7:25,045,085...25,056,915 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 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G WRN WRN RecQ like helicase ISO RGD PMID:16906373 RGD:10042980 NCBI chr15:53,966,968...54,094,855
Ensembl chr15:53,966,972...54,094,587
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 chr 2:79,182,901...79,406,879
Ensembl chr 2:79,182,971...79,406,873
JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 susceptibility ISO DNA:transition:exon;808C>T RGD PMID:10473568 RGD:1599433 NCBI chr 2:80,349,732...80,359,878
Ensembl chr 2:80,346,307...80,359,973
JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar NCBI chr 5:63,644,097...63,655,149 JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO DNA:transition mutation:splice junction: RGD PMID:24443344 RGD:11571617 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO RGD PMID:15077201 RGD:1581198 NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,398
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO DNA:deletion:promoter, exons, introns
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon
DNA:mutations:multiple (human)
RGD
ClinVar
CTD
PMID:1370809 PMID:2049575 PMID:10706896 PMID:16012458 PMID:21071432 PMID:21086191 PMID:24033266 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25846194 PMID:27011056 PMID:27964749 PMID:28492532 PMID:28748566 PMID:30374176 RGD:11041599 RGD:11041602 RGD:1300381 RGD:7257554 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,556,912...93,615,815
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome
DNA:repeat:intron:IVS17 (human)
RGD
ClinVar
PMID:8752669 PMID:10777716 PMID:11278977 PMID:12145749 RGD:1581210 RGD:1581211 RGD:1581212 RGD:734808 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,426
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 chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,981,110
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,142...124,917,171
JBrowse link
G LOX lysyl oxidase ISO RGD PMID:8638917 RGD:1581895 NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,593,116...125,607,594
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804
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 RGD:11553861 NCBI chr 2:15,194,028...15,202,936
Ensembl chr 2:15,193,506...15,210,425
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:increased expression:plasma: RGD PMID:24399159 RGD:11073604 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TNXB tenascin XB ISO RGD PMID:11642233 RGD:1599494 NCBI chr 7:24,088,873...24,155,815 JBrowse link
Ehlers-Danlos syndrome arthrochalasia 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 OMIM NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type ClinVar NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,398
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 PMID:15580559 PMID:19019335 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:24033266 PMID:24685354 PMID:24951259 PMID:25741868 PMID:26608033 PMID:26854089 PMID:28492532 PMID:30311386 PMID:30858776 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,426
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 PMID:30311386 NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,981,110
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 PMID:26627451 PMID:28492532 PMID:32581362 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO OMIM NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,398
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 COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome cardiac valvular type ClinVar PMID:2037280 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8408653 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10931857 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16786509 PMID:17078022 PMID:17309652 PMID:18412368 PMID:18553566 PMID:18704262 PMID:19344236 PMID:19358256 PMID:21249479 PMID:21567126 PMID:21667357 PMID:22589248 PMID:22753364 PMID:24390061 PMID:25086671 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:27132807 PMID:27509835 PMID:27510842 PMID:27748872 PMID:28378289 PMID:28492532 PMID:29543232 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO OMIM NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,398
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 1:272,912,239...272,935,316 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 1:273,022,014...273,066,916
Ensembl chr 1:273,022,000...273,056,039
JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,119,826...273,155,412
Ensembl chr 1:273,119,000...273,155,412
JBrowse link
G AK8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,497,661...272,625,668
Ensembl chr 1:272,497,662...272,625,622
JBrowse link
G BARHL1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,373,125...272,380,223
Ensembl chr 1:272,373,571...272,381,441
JBrowse link
G C1H9orf116 chromosome 1 C9orf116 homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532
G CACFD1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,045,620...273,066,916
Ensembl chr 1:273,034,403...273,066,915
JBrowse link
G CASD1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:74,276,533...74,347,608
Ensembl chr 9:74,276,610...74,348,426
JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,763,203...272,770,259
Ensembl chr 1:272,763,226...272,770,255
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 1:272,216,581...272,362,321
Ensembl chr 1:272,217,072...272,363,722
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 PMID:28102596 PMID:28492532 PMID:30311386 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO 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, type 1
ClinVar PMID:458828 PMID:1978725 PMID:1990009 PMID:2010058 PMID:2454224 PMID:2824475 PMID:2985635 PMID:2993307 PMID:3372533 PMID:3680255 PMID:6092353 PMID:6773953 PMID:7693712 PMID:7695699 PMID:7749416 PMID:7860070 PMID:7891382 PMID:8071956 PMID:8081389 PMID:8094076 PMID:8218237 PMID:8829649 PMID:9016532 PMID:9099837 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9557891 PMID:9594376 PMID:9923651 PMID:10027910 PMID:11288717 PMID:11317364 PMID:11359465 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16705691 PMID:16786509 PMID:16816023 PMID:16879195 PMID:17078022 PMID:18028452 PMID:18311573 PMID:18996919 PMID:19344236 PMID:19594296 PMID:21344539 PMID:21520333 PMID:21667357 PMID:21801164 PMID:21912751 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23548243 PMID:23692737 PMID:23934635 PMID:24033266 PMID:24140640 PMID:24342908 PMID:24501682 PMID:24668929 PMID:25146735 PMID:25289482 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26551090 PMID:26604951 PMID:26627451 PMID:27056980 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28378289 PMID:28492532 PMID:28498836 PMID:28625337 PMID:28725987 PMID:28810924 PMID:28916840 PMID:29595812 PMID:29807018 PMID:30311386 PMID:30715774 NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,398
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO OMIM NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,426
JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO 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
ClinVar PMID:2855059 PMID:7695699 PMID:8168810 PMID:8218237 PMID:9425231 PMID:9783710 PMID:11006503 PMID:11940702 PMID:15580559 PMID:19344236 PMID:20301422 PMID:22696272 PMID:23587214 PMID:25741868 PMID:28132693 PMID:28492532 PMID:28550590 PMID:28991257 PMID:30311386 NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,981,110
JBrowse link
G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,204,407...273,225,562
Ensembl chr 1:273,204,400...273,225,558
JBrowse link
G DDX31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,383,585...272,454,395
Ensembl chr 1:272,383,595...272,454,198
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 1:273,156,749...273,186,756
Ensembl chr 1:273,156,749...273,186,756
JBrowse link
G FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:274,106,276...274,111,970
Ensembl chr 1:274,103,877...274,111,970
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,142...124,917,171
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 1:272,827,930...272,836,460
Ensembl chr 1:272,827,934...272,836,449
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 1:272,701,386...272,715,551
Ensembl chr 1:272,701,927...272,715,539
JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532
G GTF3C4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,454,488...272,479,968
Ensembl chr 1:272,454,503...272,479,954
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 1:272,743,527...272,760,055 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
G LCN9 lipocalin 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,578...57,175,352
JBrowse link
G MED22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,956,119...272,961,618
Ensembl chr 1:272,954,170...272,961,558
JBrowse link
G MED27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:271,724,910...271,928,367
Ensembl chr 1:271,724,910...271,928,367
JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:25741868 NCBI chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,733...7,143,094
JBrowse link
G MYMK myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,101,674...273,111,721
Ensembl chr 1:273,101,674...273,111,727
JBrowse link
G NTNG2 netrin G2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,007,513...272,077,105
Ensembl chr 1:272,011,948...272,077,018
JBrowse link
G OBP2B odorant binding protein 2B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,886,871...272,890,537 JBrowse link
G OLFM1 olfactomedin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:274,236,241...274,261,322
Ensembl chr 1:274,224,454...274,261,328
JBrowse link
G PAEP progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,451,080
JBrowse link
G PPP1R26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532
G RALGDS ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,776,844...272,824,179 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 1:271,494,243...271,624,609
Ensembl chr 1:271,494,248...271,600,879
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 1:273,011,736...273,021,956
Ensembl chr 1:273,011,733...273,021,940
JBrowse link
G RPL7A ribosomal protein L7a ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,961,421...272,965,636
Ensembl chr 1:272,805,844...272,965,636
JBrowse link
G RXRA retinoid X receptor alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,698,842...273,797,622
Ensembl chr 1:273,705,503...273,797,622
JBrowse link
G SARDH sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,230,357...273,295,170
Ensembl chr 1:273,228,838...273,295,104
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,750
JBrowse link
G SGCE sarcoglycan epsilon ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:74,402,714...74,473,904
Ensembl chr 9:74,402,721...74,473,898
JBrowse link
G SLC2A10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr17:48,824,054...48,842,811
Ensembl chr17:48,824,414...48,843,201
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 1:273,063,261...273,075,455
Ensembl chr 1:273,063,270...273,075,391
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
G SPACA9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,625,701...272,635,406
Ensembl chr 1:272,625,704...272,635,404
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 1:272,988,767...273,012,007
Ensembl chr 1:272,995,842...273,012,590
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 1:272,965,637...272,970,516
Ensembl chr 1:272,965,637...272,970,510
JBrowse link
G SURF2 surfeit 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,970,522...272,976,188
Ensembl chr 1:272,970,548...272,975,293
JBrowse link
G SURF4 surfeit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,975,164...272,988,683
Ensembl chr 1:272,975,160...272,988,688
JBrowse link
G SURF6 surfeit 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,949,236...272,955,674
Ensembl chr 1:272,949,247...272,955,197
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 1:240,842,735...240,918,267
Ensembl chr 1:240,859,270...240,918,528
JBrowse link
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,952
JBrowse link
G TTF1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,180,488...272,212,504 JBrowse link
G UCK1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:271,448,362...271,453,811
Ensembl chr 1:271,448,364...271,453,816
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 1:273,303,142...273,476,250
Ensembl chr 1:273,303,143...273,476,208
JBrowse link
G WDR5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,560,274...273,577,827
Ensembl chr 1:273,560,315...273,577,845
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 COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 ClinVar PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 PMID:28102596 PMID:28492532 PMID:30311386 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 ClinVar PMID:2993307 PMID:3372533 PMID:6092353 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:8829649 PMID:9016532 PMID:9272740 PMID:9594376 PMID:11288717 PMID:15077201 PMID:15241796 PMID:16705691 PMID:16816023 PMID:17078022 PMID:19344236 PMID:21520333 PMID:21667357 PMID:22206639 PMID:22589248 PMID:23692737 PMID:24501682 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26604951 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28492532 PMID:28498836 PMID:28810924 PMID:29595812 PMID:30311386 NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,398
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2
ClinVar Annotator: match by term: Ehlers-Danlos syndrome classic type 2
CTD
ClinVar
PMID:7695699 PMID:8218237 PMID:8752669 PMID:9042913 PMID:10471441 PMID:10602121 PMID:10946364 PMID:11992482 PMID:15580559 PMID:19019335 PMID:19344236 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24951259 PMID:25741868 PMID:26608033 PMID:26854089 PMID:28454995 PMID:28492532 PMID:28550590 PMID:29924831 PMID:30311386 PMID:30858776 PMID:31064749 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,426
JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO OMIM NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,981,110
JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 ClinVar PMID:25741868 NCBI chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,733...7,143,094
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 OMIM NCBI chr 7:24,088,873...24,155,815 JBrowse link
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 OMIM NCBI chr18:51,046,895...51,056,789
Ensembl chr18:51,046,896...51,056,698
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 OMIM NCBI chr 2:79,182,901...79,406,879
Ensembl chr 2:79,182,971...79,406,873
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
RGD
ClinVar
PMID:7833919 PMID:25741868 PMID:25758994 PMID:26854089 PMID:28492532 RGD:11041770 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,556,912...93,615,815
JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar
G TNXB tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:25326637 NCBI chr 7:24,088,873...24,155,815 JBrowse link
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, hydroxylysine-deficient ClinVar NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,026,722...72,056,439
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO OMIM NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804
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 OMIM NCBI chr18:42,903,100...42,913,609
Ensembl chr18:42,901,173...42,913,884
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 OMIM NCBI chr 1:130,845,103...130,847,203 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 OMIM NCBI chr 1:81,996,894...82,063,847 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 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112
JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 ISO OMIM NCBI chr 2:80,349,732...80,359,878
Ensembl chr 2:80,346,307...80,359,973
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 6:63,579,291...63,593,429
Ensembl chr 6:63,579,302...63,593,464
JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 6:63,366,017...63,398,311
Ensembl chr 6:63,365,983...63,398,311
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO OMIM NCBI chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112
JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type
ClinVar PMID:1221956 PMID:1640425 PMID:3631078 PMID:10473568 PMID:10506123 PMID:15211654 PMID:18158310 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28492532 PMID:28882145 NCBI chr 2:80,349,732...80,359,878
Ensembl chr 2:80,346,307...80,359,973
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 6:63,548,862...63,555,991
Ensembl chr 6:63,548,864...63,553,332
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 6:63,596,809...63,607,915
Ensembl chr 6:63,596,803...63,607,922
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 6:63,363,201...63,364,211
Ensembl chr 6:63,363,173...63,364,208
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 6:63,593,539...63,596,921
Ensembl chr 6:63,593,888...63,600,857
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 6:63,413,080...63,445,277
Ensembl chr 6:63,413,069...63,444,745
JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 6:63,568,171...63,578,623 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 6:63,529,853...63,539,979
Ensembl chr 6:63,529,853...63,545,235
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 6:63,516,037...63,519,323 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 6:63,523,850...63,526,672
Ensembl chr 6:63,523,846...63,526,666
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 6:63,494,759...63,513,884
Ensembl chr 6:63,494,699...63,511,636
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 6:63,556,134...63,568,080
Ensembl chr 6:63,556,139...63,727,722
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 OMIM NCBI chr 2:15,194,028...15,202,936
Ensembl chr 2:15,193,506...15,210,425
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 IV
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4
ClinVar PMID:1352273 PMID:1357232 PMID:1370809 PMID:1496983 PMID:1568754 PMID:1619632 PMID:1672129 PMID:1757960 PMID:1895316 PMID:1939638 PMID:1998337 PMID:2002056 PMID:2049575 PMID:2145268 PMID:2235526 PMID:2243125 PMID:2349939 PMID:2365710 PMID:2492273 PMID:2583342 PMID:2710295 PMID:2771024 PMID:2808425 PMID:2834369 PMID:2981879 PMID:3076851 PMID:3162228 PMID:3204406 PMID:6477831 PMID:6507506 PMID:7230200 PMID:7581395 PMID:7695699 PMID:7749417 PMID:7833919 PMID:7912131 PMID:8098182 PMID:8218237 PMID:8320698 PMID:8477261 PMID:8514866 PMID:8664902 PMID:8680408 PMID:8881656 PMID:8990011 PMID:9036918 PMID:9147870 PMID:9399899 PMID:9546243 PMID:9557891 PMID:9712532 PMID:9841712 PMID:10051163 PMID:10706896 PMID:10923041 PMID:10928898 PMID:11577371 PMID:12131463 PMID:12694234 PMID:12786757 PMID:16751282 PMID:16863833 PMID:17053184 PMID:17122455 PMID:17224388 PMID:17251678 PMID:17728513 PMID:18043893 PMID:18272325 PMID:19011090 PMID:19248182 PMID:19344236 PMID:19424605 PMID:19455184 PMID:19695909 PMID:19993915 PMID:20052764 PMID:20518783 PMID:20648054 PMID:21086191 PMID:21520333 PMID:21533953 PMID:21637106 PMID:21984974 PMID:22001912 PMID:22019127 PMID:22038052 PMID:22492385 PMID:22610159 PMID:22647446 PMID:22713205 PMID:23148498 PMID:23234825 PMID:23293852 PMID:23688910 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24399159 PMID:24922459 PMID:25149929 PMID:25205403 PMID:25326637 PMID:25355833 PMID:25503501 PMID:25637381 PMID:25644172 PMID:25741868 PMID:25758994 PMID:25776230 PMID:25834947 PMID:25846194 PMID:25944730 PMID:26017485 PMID:26188975 PMID:26332594 PMID:26497932 PMID:26666608 PMID:26854089 PMID:27011056 PMID:27153395 PMID:27168972 PMID:27306637 PMID:27611364 PMID:27888582 PMID:27964749 PMID:28258187 PMID:28349240 PMID:28492532 PMID:28655553 PMID:28742248 PMID:28748566 PMID:29216800 PMID:29543232 PMID:29778910 PMID:30115950 PMID:30122538 PMID:30311386 PMID:30374176 PMID:30379966 PMID:30675029 PMID:30793832 PMID:30919682 PMID:31719132 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,556,912...93,615,815
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:28492532 NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,981,110
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:28492532 NCBI chr15:94,140,635...94,161,793
Ensembl chr15:94,140,725...94,168,210
JBrowse link
G WDR75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:28492532 NCBI chr15:93,981,054...94,026,479
Ensembl chr15:93,981,215...94,026,707
JBrowse link
Ehlers-Danlos Syndrome Type 7 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, procollagen proteinase deficient ClinVar PMID:2404284 PMID:8347685 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, procollagen proteinase deficient ClinVar PMID:1867198 PMID:2037280 PMID:2767050 PMID:3082886 PMID:6462220 PMID:6876111 PMID:7691343 PMID:7695699 PMID:7942841 PMID:8079666 PMID:8218237 PMID:8408653 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10073586 PMID:10739762 PMID:10931857 PMID:11090261 PMID:11317364 PMID:11432962 PMID:12590186 PMID:13431894 PMID:15024692 PMID:15024745 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16786509 PMID:16879195 PMID:17078022 PMID:17309652 PMID:18028452 PMID:18272325 PMID:18409203 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19550437 PMID:20087402 PMID:20696291 PMID:21249479 PMID:21344539 PMID:21567126 PMID:21667357 PMID:21801164 PMID:21884818 PMID:22174522 PMID:22570641 PMID:22589248 PMID:22753364 PMID:23047998 PMID:23522764 PMID:23735642 PMID:24147872 PMID:24389367 PMID:24390061 PMID:24668929 PMID:24715559 PMID:24891183 PMID:24964776 PMID:25086671 PMID:25146735 PMID:25525159 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26633542 PMID:27060301 PMID:27132807 PMID:27509835 PMID:27510842 PMID:27748872 PMID:28378289 PMID:28492532 PMID:28668235 PMID:29543232 PMID:29946973 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, procollagen proteinase deficient ClinVar PMID:25441681 NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,398
JBrowse link
Ehlers-Danlos Syndrome Type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1R complement C1r ISO OMIM NCBI chr 5:63,644,097...63,655,149 JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE ClinVar PMID:27745832 NCBI chr 5:63,670,309...63,681,466 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 PMID:27745832 NCBI chr 5:63,644,097...63,655,149 JBrowse link
G C1S complement C1s ISO OMIM NCBI chr 5:63,670,309...63,681,466 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 OMIM
RGD
PMID:8275094 RGD:1600946 NCBI chr13:31,262,750...31,295,112 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chr18:50,002,921...50,009,425 JBrowse link
G MMP1 matrix metallopeptidase 1 severity ISO DNA:insertion:promoter:g.-1607_-1606insG (human) OMIM
RGD
PMID:18030675 RGD:8549728 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,454,000
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 term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant ClinVar PMID:8755915 PMID:9804332 PMID:16965329 NCBI chr13:31,262,750...31,295,112 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 OMIM NCBI chr13:31,262,750...31,295,112 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 OMIM NCBI chr13:31,262,750...31,295,112 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 5:29,596,334...29,672,704
Ensembl chr 5:29,596,334...29,673,875
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 OMIM NCBI chr 2:37,171,402...37,256,204
Ensembl chr 2:37,171,401...37,255,811
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 6:64,664,484...64,665,774
Ensembl chr 6:64,664,641...64,665,774
JBrowse link
G AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chr15:37,801,121...37,853,472
Ensembl chr15:37,801,116...37,853,472
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G ARHGDIA Rho GDP dissociation inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr12:1,113,358...1,117,319
Ensembl chr12:1,113,355...1,121,311
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chr17:5,712,048...5,749,811
Ensembl chr17:5,712,056...5,758,830
JBrowse link
G ASPN asporin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 3:42,165,553...42,192,902
Ensembl chr 3:42,165,553...42,192,813
JBrowse link
G CAPG capping actin protein, gelsolin like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 3:59,335,483...59,366,855
Ensembl chr 3:59,335,465...59,366,846
JBrowse link
G CLIC1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 7:23,842,829...23,851,162 JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,556,912...93,615,815
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,426
JBrowse link
G CRABP1 cellular retinoic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 7:47,602,316...47,608,865
Ensembl chr 7:47,602,192...47,608,970
JBrowse link
G EIF5A eukaryotic translation initiation factor 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr12:52,659,040...52,664,686 JBrowse link
G FGG fibrinogen gamma chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 8:74,553,040...74,562,151
Ensembl chr 8:74,553,105...74,686,118
JBrowse link
G FOXL2 forkhead box L2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chr13:79,708,693...79,709,825
Ensembl chr13:79,709,013...79,709,825
JBrowse link
G FTH1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:9,535,051...9,537,979 JBrowse link
G FTL ferritin light chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 6:54,231,121...54,232,756
Ensembl chr 6:54,227,164...54,232,752
JBrowse link
G HBB hemoglobin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:4,800,683...4,801,941
Ensembl chr 9:4,621,187...4,809,453
JBrowse link
G LGALS1 galectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 5:10,149,069...10,152,514
Ensembl chr 5:10,149,062...10,156,210
JBrowse link
G MCT7 tryptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 3:40,616,642...40,619,148 JBrowse link
G MIF macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,862,317
JBrowse link
G MYDGF myeloid derived growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:74,185,042...74,202,306
Ensembl chr 2:74,185,037...74,202,301
JBrowse link
G MYL6B myosin light chain 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 5:21,554,351...21,558,995 JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chr 1:115,941,945...116,069,884
Ensembl chr 1:115,941,937...116,070,317
JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:30311386
G PFN1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr12:51,962,642...51,965,570
Ensembl chr12:51,961,696...51,973,660
JBrowse link
G PRDX1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 6:165,847,390...165,859,918
Ensembl chr 6:165,824,520...165,861,442
JBrowse link
G PRDX2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:66,207,829...66,211,474
Ensembl chr 2:66,207,796...66,213,567
JBrowse link
G RAN RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr14:24,312,810...24,318,024
Ensembl chr14:24,311,577...24,317,789
JBrowse link
G S100A10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 4:97,261,752...97,272,517
Ensembl chr 4:97,261,815...97,272,513
JBrowse link
G S100A4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 4:96,088,102...96,091,160
Ensembl chr 4:96,088,201...96,091,156
JBrowse link
G S100A8 S100 calcium binding protein A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 4:96,209,670...96,210,603
Ensembl chr 4:96,209,551...96,210,602
JBrowse link
G S100A9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 4:96,236,114...96,238,989 JBrowse link
G SERPINB5 serpin family B member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:158,167,756...158,195,896
Ensembl chr 1:158,167,643...158,195,796
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 RGD:27226709 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
JBrowse link
G TAGLN transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:44,561,756...44,567,385
Ensembl chr 9:44,560,785...44,567,385
JBrowse link
G TPM1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,981...109,019,440
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 OMIM NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
limited scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV1 caveolin 1 no_association
susceptibility
ISO DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human)
DNA:SNPs:enhancer, intron:multiple
RGD PMID:22402147 RGD:8661768 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:17102953 RGD:12903974 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FASLG Fas ligand (TNF superfamily, member 6) ISO RGD PMID:17102953 RGD:12903974 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,475
JBrowse link
G IL2 interleukin 2 susceptibility ISO DNA:polymorphism::-384T>G(human) RGD PMID:17444587 RGD:4142872 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:20808962 RGD:4892610 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,686...217,002,148
JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,116...41,856,339
JBrowse link
G PGF placental growth factor ISO protein:increased expression:plasma RGD PMID:22461185 RGD:6483571 NCBI chr 7:98,149,510...98,162,784 JBrowse link
G SERPINE1 serpin family E member 1 ISO mRNA,protein:increased expression:skin: RGD PMID:15730388 RGD:13208597 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility
no_association
ISO DNA:SNP:intron: (rs7574865) (human)
DNA:SNPs:introns: (rs10168266, rs3821236) (human)
RGD PMID:19286670 PMID:23755762 RGD:8661701 RGD:8661714 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,653,861...95,763,448
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr 7:25,045,085...25,056,915 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 chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
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 chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15863969 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,445...22,342,163
JBrowse link
G HGF hepatocyte growth factor treatment ISO RGD PMID:14712301 RGD:8548627 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,437,087...98,513,156
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:7916356 RGD:8158116 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IL13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12920362 RGD:8549537 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
JBrowse link
G LMNA lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15726408 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:9804345 RGD:1582543 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO RGD PMID:7510487 RGD:7394847 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9843018 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
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 chr14:100,927,305...100,954,781 JBrowse link
G FBN1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link
G IFNG interferon gamma ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 ISO RGD PMID:2968364 RGD:10448928 NCBI chr17:33,072,104...33,094,847
Ensembl chr17:33,072,098...33,094,603
JBrowse link
G SNRPC small nuclear ribonucleoprotein polypeptide C ISO associated with Hypertension, Pulmonary RGD PMID:10555891 RGD:10766447 NCBI chr 7:30,708,243...30,723,480
Ensembl chr 7:30,708,332...30,724,045
JBrowse link
G TLR3 toll like receptor 3 ISO RGD PMID:16453294 RGD:5129221 NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,966,040...47,058,734
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
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 OMIM NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,874...62,110,058
JBrowse link
OI/EDS Combined Syndrome 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/eds combined syndrome ClinVar PMID:15728585 PMID:16407265 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
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 chr14:6,443,773...6,489,066
Ensembl chr14:6,443,912...6,489,064
JBrowse link
G COL1A1 collagen type I alpha 1 chain severity ISO ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein disease
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Lobstein's Disease
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
DNA:deletion: :
DNA:transition mutation:splice junction:
DNA:mutations:exons: c.97G > A,c.1209T > A,c.3702C > T(human)
DNA:snp:intron:c.3207+1G>A (human)
DNA:mutation:exon:c.3235G>A(p.G1079S)(human)
DNA:mutation:splice junction:c.1875+1G>A (IVS 27+1G>A)(human)
DNA:transversion mutation:intron:
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1137656 PMID:2037280 PMID:3722186 PMID:6876111 PMID:7691343 PMID:7695699 PMID:7942841 PMID:8079666 PMID:8218237 PMID:8408653 PMID:8613526 PMID:8669434 PMID:8757037 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9101304 PMID:9295084 PMID:9443882 PMID:9448299 PMID:10073586 PMID:10739762 PMID:10931857 PMID:11090261 PMID:11113887 PMID:11317364 PMID:11432962 PMID:12590186 PMID:13431894 PMID:15024692 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16705691 PMID:16786509 PMID:16879195 PMID:17078022 PMID:17211858 PMID:17309652 PMID:17392686 PMID:18028452 PMID:18248096 PMID:18272325 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18755172 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19550437 PMID:19751715 PMID:20087402 PMID:20696291 PMID:21113976 PMID:21249479 PMID:21341209 PMID:21344539 PMID:21567126 PMID:21667357 PMID:21801164 PMID:21884818 PMID:22174522 PMID:22565191 PMID:22570641 PMID:22589248 PMID:22753364 PMID:23047998 PMID:23079818 PMID:23522764 PMID:23587214 PMID:23735642 PMID:24147872 PMID:24389367 PMID:24390061 PMID:24443344 PMID:24668929 PMID:24715559 PMID:24891183 PMID:24964776 PMID:25086671 PMID:25146735 PMID:25525159 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26627451 PMID:26633542 PMID:26712438 PMID:27044453 PMID:27059743 PMID:27060301 PMID:27132807 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28102596 PMID:28116328 PMID:28378289 PMID:28492532 PMID:28668235 PMID:29150909 PMID:29543232 PMID:29946973 PMID:30311386 PMID:31319225 RGD:11571614 RGD:11571617 RGD:11571620 RGD:11667065 RGD:11667066 RGD:11667068 RGD:734802 RGD:8552657 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO DNA:mutation:exon:c.87T > C(human)
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein disease
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Lobstein's Disease
ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
DNA:deletion:exon:3983del (mouse)
DNA:snp:cds:p.G328S (human)
DNA:mutations, haplotype (human)
RGD
ClinVar
PMID:458828 PMID:1978725 PMID:2010058 PMID:2567784 PMID:2824475 PMID:2985635 PMID:2993307 PMID:3372533 PMID:3403536 PMID:6092353 PMID:7695699 PMID:7860070 PMID:8071956 PMID:8094076 PMID:8218237 PMID:8446583 PMID:8456808 PMID:8829649 PMID:9016532 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9557891 PMID:9594376 PMID:9923651 PMID:10976985 PMID:11288717 PMID:11317364 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16705691 PMID:16816023 PMID:17078022 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19344236 PMID:21341209 PMID:21344539 PMID:21520333 PMID:21667357 PMID:21801164 PMID:21884818 PMID:21912751 PMID:22206639 PMID:22589248 PMID:23692737 PMID:24033266 PMID:24140640 PMID:24501682 PMID:24668929 PMID:24767406 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26432670 PMID:26467025 PMID:26604951 PMID:27056980 PMID:27146342 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28378289 PMID:28396251 PMID:28492532 PMID:28498836 PMID:28625337 PMID:28810924 PMID:28916840 PMID:29595812 PMID:30311386 RGD:11667066 RGD:1581197 RGD:7248772 RGD:734804 NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,398
JBrowse link
G CRTAP cartilage associated protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
CTD
ClinVar
PMID:18566967 NCBI chr13:18,994,371...19,040,297
Ensembl chr13:18,995,154...19,040,298
JBrowse link
G FKBP10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr12:20,872,155...20,881,604
Ensembl chr12:20,872,155...20,882,644
JBrowse link
G LRP5 LDL receptor related protein 5 treatment ISO RGD PMID:24677211 RGD:12792279 NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,593...4,653,945
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:18566967 PMID:24498616 PMID:25741868 PMID:26634552 PMID:28492532 PMID:31319225 NCBI chr 6:168,668,275...168,687,832
Ensembl chr 6:168,534,655...168,690,095
JBrowse link
G PPIB peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar NCBI chr 1:107,886,663...107,893,155
Ensembl chr 1:107,886,658...107,897,098
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 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
JBrowse link
G SERPINH1 serpin family H member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr 9:9,782,939...9,794,485
Ensembl chr 9:9,783,036...9,794,483
JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:24033266 PMID:25741868 NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
JBrowse link
G SNX22 sorting nexin 22 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar NCBI chr 1:107,891,698...107,897,561
Ensembl chr 1:107,891,698...107,897,529
JBrowse link
G SP7 Sp7 transcription factor ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr 5:18,541,368...18,566,668
Ensembl chr 5:18,540,952...18,575,436
JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:1793673 NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,703...71,381,160
JBrowse link
G WNT1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 NCBI chr 5:15,010,607...15,015,007
Ensembl chr 5:15,010,985...15,014,079
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 OMIM NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
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 PMID:8094076 PMID:8218237 PMID:8829649 PMID:9016532 PMID:9272740 PMID:9594376 PMID:11288717 PMID:11317364 PMID:15077201 PMID:15241796 PMID:16705691 PMID:16816023 PMID:16879195 PMID:17078022 PMID:19344236 PMID:21520333 PMID:21667357 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23692737 PMID:24501682 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26604951 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28492532 PMID:28498836 PMID:28810924 PMID:29595812 PMID:30311386 NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,398
JBrowse link
G ITGA3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr12:26,234,769...26,269,327
Ensembl chr12:26,234,753...26,271,561
JBrowse link
G PDK2 pyruvate dehydrogenase kinase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr12:26,274,562...26,295,787
Ensembl chr12:26,274,606...26,301,880
JBrowse link
G PPP1R9B protein phosphatase 1 regulatory subunit 9B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr12:26,319,123...26,337,089
Ensembl chr12:26,319,124...26,336,562
JBrowse link
G SAMD14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr12:26,295,159...26,315,548
Ensembl chr12:26,296,016...26,315,422
JBrowse link
G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr12:26,356,691...26,368,561
Ensembl chr12:26,356,773...26,371,601
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 OMIM NCBI chr 9:9,782,939...9,794,485
Ensembl chr 9:9,783,036...9,794,483
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 OMIM NCBI chr12:20,872,155...20,881,604
Ensembl chr12:20,872,155...20,882,644
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 PMID:25741868 NCBI chr12:20,872,155...20,881,604
Ensembl chr12:20,872,155...20,882,644
JBrowse link
G SP7 Sp7 transcription factor ISO OMIM NCBI chr 5:18,541,368...18,566,668
Ensembl chr 5:18,540,952...18,575,436
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 OMIM NCBI chr14:6,443,773...6,489,066
Ensembl chr14:6,443,912...6,489,064
JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: OI, TYPE XIII ClinVar NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
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 OMIM NCBI chr 1:246,973,447...247,024,019
Ensembl chr 1:246,973,436...247,027,527
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 OMIM NCBI chr 5:15,010,607...15,015,007
Ensembl chr 5:15,010,985...15,014,079
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 5:14,997,377...15,013,928
Ensembl chr 5:14,997,381...15,013,919
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 OMIM NCBI chr 2:16,186,206...16,220,948
Ensembl chr 2:16,186,210...16,220,937
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 OMIM NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,703...71,381,160
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 OMIM NCBI chr 1:84,545,033...84,552,138
Ensembl chr 1:84,545,201...84,552,135
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 OMIM NCBI chr  X:18,013,360...18,054,250 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 OMIM NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO OMIM NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,398
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 OMIM NCBI chr 7:49,807,309...49,817,725
Ensembl chr 7:49,807,115...49,817,659
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 chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
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 chr14:6,443,773...6,489,066
Ensembl chr14:6,443,912...6,489,064
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 4:115,638,381...115,841,679
Ensembl chr 4:115,540,950...115,840,708
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO OMIM NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO OMIM NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,398
JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,981,110
JBrowse link
G FKBP10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr12:20,872,155...20,881,604
Ensembl chr12:20,872,155...20,882,644
JBrowse link
G P3H1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 6:168,668,275...168,687,832
Ensembl chr 6:168,534,655...168,690,095
JBrowse link
G SERPINF1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
JBrowse link
G WNT1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 5:15,010,607...15,015,007
Ensembl chr 5:15,010,985...15,014,079
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 OMIM NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO OMIM NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,398
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 OMIM NCBI chr 2:107,035...109,116
Ensembl chr 2:107,042...108,460
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 OMIM NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
JBrowse link
osteogenesis imperfecta type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRTAP cartilage associated protein ISO OMIM NCBI chr13:18,994,371...19,040,297
Ensembl chr13:18,995,154...19,040,298
JBrowse link
G GLB1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr13:18,972,108...18,978,908
Ensembl chr13:18,969,647...18,979,006
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 OMIM NCBI chr 6:168,668,275...168,687,832
Ensembl chr 6:168,534,655...168,690,095
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 OMIM NCBI chr 1:107,886,663...107,893,155
Ensembl chr 1:107,886,658...107,897,098
JBrowse link
G SNX22 sorting nexin 22 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 9
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IX
ClinVar PMID:28492532 NCBI chr 1:107,891,698...107,897,561
Ensembl chr 1:107,891,698...107,897,529
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 OMIM NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,593...4,653,945
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 OMIM NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,556,912...93,615,815
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 4:68,481,696...68,486,122
Ensembl chr 4:68,483,977...68,486,118
JBrowse link
G CRP C-reactive protein, pentraxin-related treatment ISO RGD PMID:2859021 RGD:9495925 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G HFE homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30657865 RGD:14746966 NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,768,741
JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G MMP3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,411,065...33,454,000
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 chr12:14,667,643...14,723,296
Ensembl chr12:14,582,481...14,723,336
JBrowse link
Pretibial 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 OMIM NCBI chr13:31,262,750...31,295,112 JBrowse link
Progressive Renal Failure with Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALCB calcitonin-related polypeptide beta ISO RGD PMID:15928032 RGD:7204486 NCBI chr 2:44,043,135...44,048,651 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 ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive
ClinVar Annotator: match by term: RDEB, severe generalized
ClinVar PMID:3771648 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7883979 PMID:8037207 PMID:8088783 PMID:8218237 PMID:8513326 PMID:8644729 PMID:8755915 PMID:8900535 PMID:9215684 PMID:9242516 PMID:9326325 PMID:9668111 PMID:9740253 PMID:9804332 PMID:10084325 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10583163 PMID:10944088 PMID:11000732 PMID:11167698 PMID:11781296 PMID:11843659 PMID:12485454 PMID:12787275 PMID:12813757 PMID:15888141 PMID:16271705 PMID:16971478 PMID:17425959 PMID:17495952 PMID:17501948 PMID:17916216 PMID:18030675 PMID:18414213 PMID:18558993 PMID:18951764 PMID:19026465 PMID:19344236 PMID:19643583 PMID:19681861 PMID:20184583 PMID:20357813 PMID:20507384 PMID:20598510 PMID:20920254 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22266148 PMID:24032424 PMID:24033266 PMID:24947307 PMID:25525159 PMID:25741868 PMID:26064063 PMID:26076072 PMID:26102279 PMID:26763448 PMID:27153395 PMID:27746867 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29531004 PMID:30311386 PMID:32860008 NCBI chr13:31,262,750...31,295,112 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 OMIM NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759
JBrowse link
scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CILP cartilage intermediate layer protein ISO ClinVar Annotator: match by term: Scleroderma ClinVar PMID:30311386 NCBI chr 1:163,236,864...163,271,222
Ensembl chr 1:163,237,100...163,271,164
JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Scleroderma ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:15,194,028...15,202,936
Ensembl chr 2:15,193,506...15,210,425
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 OMIM NCBI chr 8:125,410,221...125,488,471
Ensembl chr 8:125,409,507...125,488,436
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 (peptidyl-dipeptidase A) 1 ISO protein:decreased expression:plasma RGD PMID:17360781 RGD:8548889 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713
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 1:273,022,014...273,066,916
Ensembl chr 1:273,022,000...273,056,039
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO protein:increased expression:serum RGD PMID:18825489 RGD:8695973 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G AGT angiotensinogen ISO protein:decreased expression:plasma RGD PMID:17360781 RGD:8548889 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G ANXA5 annexin A5 severity ISO RGD PMID:21124692 RGD:7242029 NCBI chr 8:102,387,833...102,420,868
Ensembl chr 8:102,388,103...102,425,750
JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 ISO protein:increased expression:saliva (human) RGD PMID:17722226 RGD:11049167 NCBI chr15:120,297,122...120,328,795
Ensembl chr15:120,297,127...120,329,059
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 8:118,814,352...119,114,973
Ensembl chr 8:118,814,053...119,157,504
JBrowse link
G BDNF brain derived neurotrophic factor ISO protein:decreased expression:serum: RGD PMID:21085492 RGD:5144060 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,623,268...32,679,164
JBrowse link
G C3 complement C3 ISO protein:increased expression:plasma RGD PMID:2803327 RGD:7421518 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G CAV1 caveolin 1 susceptibility ISO DNA:SNPs:enhancer, intron: (rs7795356, rs926198, rs959173) (human)
protein:decreased expression:lung, skin
RGD PMID:18759267 PMID:22402147 RGD:8661768 RGD:8661773 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 severity ISO protein:increased expression:serum
protein:increased expression:respiratory system fluid/secretion
RGD PMID:19615053 PMID:21049277 PMID:21285114 RGD:4891453 RGD:5135284 RGD:5683876 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO mRNA:increased expression:skin RGD PMID:21742595 RGD:7483587 NCBI chr15:129,172,743...129,176,069 JBrowse link
G CCL3L1 chemokine (C-C motif) ligand 3-like 1 ISO protein:increased expression:serum RGD PMID:21285114 RGD:5683876 NCBI chr12:39,491,999...39,493,345
Ensembl chr12:39,491,885...39,493,370
JBrowse link
G CCL4 C-C motif chemokine ligand 4 ISO protein:increased expression:serum RGD PMID:21285114 RGD:5683876 NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,885...39,557,358
JBrowse link
G CCN1 cellular communication network factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr 4:130,392,404...130,395,179
Ensembl chr 4:130,392,404...130,395,150
JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,673,798...31,677,696
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:23142052 RGD:9479741 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G CCR6 C-C motif chemokine receptor 6 ISO mRNA:increased expression:skin RGD PMID:21742595 RGD:7483587 NCBI chr 1:2,016,600...2,034,172
Ensembl chr 1:2,018,608...2,019,821
JBrowse link
G CD247 CD247 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr 4:83,494,266...83,586,887
Ensembl chr 4:83,458,417...83,586,650
JBrowse link
G CD86 CD86 molecule ISO DNA:snp:5' utr:g.-3479T>G (human) RGD PMID:16790753 RGD:4892554 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,525...138,504,310
JBrowse link
G CFB complement factor B ISO protein:increased expression:plasma RGD PMID:2803327 RGD:7421518 NCBI chr 7:24,034,077...24,040,523 JBrowse link
G CHI3L1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:16195162 RGD:4892666 NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,510
JBrowse link
G CLU clusterin ISO protein:increased expression:serum RGD PMID:22350181 RGD:8898558 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,590...11,352,475
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO RGD PMID:1697606 RGD:5688336 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,398
JBrowse link
G CSF1 colony stimulating factor 1 ISO mRNA:increased expression:skin RGD PMID:22700848 RGD:7257593 NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,478...110,197,901
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:serum RGD PMID:15608300 RGD:4891898 NCBI chr 6:19,312,351...19,324,439 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:16584113 PMID:23142052 RGD:4891896 RGD:4891898 RGD:9479741 NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:serum RGD PMID:21049277 PMID:21303517 RGD:5135279 RGD:5135284 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
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 chr12:52,145,100...52,150,267 JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum RGD PMID:21049277 PMID:21303517 RGD:5135279 RGD:5135284 NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,495...71,670,271
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:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692
JBrowse link
G CXCR6 C-X-C motif chemokine receptor 6 ISO protein:increased expression:skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr13:29,095,900...29,100,666
Ensembl chr13:29,095,901...29,100,670
JBrowse link
G EDN1 endothelin 1 ISO protein:increased secretion:plasma (human) RGD PMID:7653485 RGD:4145072 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G ELN elastin ISO RGD PMID:22563211 RGD:9585742 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,073...11,244,897
JBrowse link
G ESR1 estrogen receptor 1 susceptibility ISO DNA:SNP:intron: RGD PMID:19032828 RGD:8553058 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
JBrowse link
G ESR2 estrogen receptor 2 no_association ISO DNA:SNP:exon: RGD PMID:19032828 RGD:8553058 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,722,164...193,906,565
JBrowse link
G F11R F11 receptor ISO RGD PMID:19153103 RGD:7488918 NCBI chr 4:89,425,101...89,447,889
Ensembl chr 4:89,425,039...89,449,932
JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma: RGD PMID:9374919 RGD:11565087 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G FBN1 fibrillin 1 susceptibility ISO DNA:insertion:5' utr RGD PMID:10395706 PMID:11123012 PMID:12384286 RGD:12904889 RGD:12910471 RGD:7387265 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO protein:increased expression:skin: RGD PMID:21865112 RGD:8552335 NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,137
JBrowse link
G FSTL1 follistatin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr13:139,847,246...139,901,972
Ensembl chr13:139,847,438...139,901,960
JBrowse link
G HDAC5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr12:19,077,910...19,119,463
Ensembl chr12:19,077,997...19,123,140
JBrowse link
G HGF hepatocyte growth factor treatment
severity
ISO protein:increased expression:serum:
mRNA:increased expression:skin:
RGD PMID:17049072 PMID:22286923 PMID:24387171 RGD:8548624 RGD:8548651 RGD:8548659 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,437,087...98,513,156
JBrowse link
G HMGB1 high mobility group box 1 ISO protein:increased expression:serum RGD PMID:18825489 RGD:8695973 NCBI chr11:7,195,556...7,321,071 JBrowse link
G HNRNPL heterogeneous nuclear ribonucleoprotein L ISO RGD PMID:21569507 RGD:9999440 NCBI chr 6:47,643,561...47,655,856
Ensembl chr 6:47,530,238...47,655,557
JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression ISO protein:increased expression:blood RGD PMID:1371389 PMID:8099861 PMID:18759276 RGD:8158120 RGD:8547576 RGD:8547587 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IFNG interferon gamma treatment ISO RGD PMID:1418004 RGD:8157622 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:increased expression:serum: RGD PMID:19004037 RGD:12743606 NCBI chr18:50,002,921...50,009,425 JBrowse link
G IL13 interleukin 13 no_association ISO mRNA, protein:increased expression:skin
protein:increased expression:serum
DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human)
RGD PMID:9034992 PMID:15564778 PMID:22045834 RGD:5684370 RGD:5684371 RGD:8549502 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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:97,300,960...97,353,754
Ensembl chr  X:97,300,466...97,369,696
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 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO RGD PMID:1375465 RGD:8662902 NCBI chr 3:52,192,912...52,334,734
Ensembl chr 3:52,192,914...52,288,515
JBrowse link
G IL2 interleukin 2 ISO protein:increased expression:serum: RGD PMID:2213757 RGD:8663482 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL23R interleukin 23 receptor no_association ISO DNA:SNPs: :rs11209032,rs1495965(human)
DNA:SNPs: :rs11209026, rs11465804 (human)
RGD PMID:18713787 PMID:19918037 RGD:5096624 RGD:8549603 NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,577
JBrowse link
G IL27 interleukin 27 ISO protein:increased expression:serum RGD PMID:20705635 RGD:5128477 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
JBrowse link
G IL27RA interleukin 27 receptor subunit alpha ISO mRNA:increased expression:skin RGD PMID:20705635 RGD:5128477 NCBI chr 2:65,127,278...65,149,665
Ensembl chr 2:65,127,278...65,149,764
JBrowse link
G IL4 interleukin 4 ISO mRNA, protein:increased expression, splice variant:blood, mononuclear cell, plasma
protein:increased expression:serum
RGD PMID:9034992 PMID:10473513 RGD:5684371 RGD:7829819 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:23406616 RGD:12792238 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G IRF5 interferon regulatory factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,686...19,691,154
JBrowse link
G JAM3 junctional adhesion molecule 3 ISO protein:increased expression:skin
protein:decreased expression:skin, endothelial cell
RGD PMID:19439502 PMID:23001478 RGD:7488920 RGD:7488937 NCBI chr 9:60,629,245...60,738,979
Ensembl chr 9:60,613,400...60,738,924
JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:skin:
protein:decreased expression:bone marrow:
RGD PMID:21865112 PMID:22271757 RGD:8551843 RGD:8552335 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,116...41,856,339
JBrowse link
G LOC110258578 interleukin-1 beta-like susceptibility ISO DNA:polymorphisms:promoter:-31T>C,-511C>T (human) RGD PMID:17444587 RGD:4142872
G LTA lymphotoxin alpha susceptibility ISO DNA:SNP:intron:252A>G (human) RGD PMID:10600011 RGD:8548796 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,039...23,698,302
JBrowse link
G MMP1 matrix metallopeptidase 1 severity ISO mRNA:decreased expression:skin
protein:increased expression:serum
RGD PMID:12051403 PMID:22286923 RGD:8548651 RGD:8693663 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G MMP3 matrix metallopeptidase 3 severity ISO protein:increased expression:serum RGD PMID:12051403 PMID:15498049 RGD:8693663 RGD:8693674 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:15642145 RGD:1580577 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MUC1 mucin 1, cell surface associated ISO protein:increased expression:serum RGD PMID:19286849 RGD:4143496 NCBI chr 4:94,626,317...94,631,194 JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr 6:51,317,386...51,358,665 JBrowse link
G NGF nerve growth factor ISO protein:increased expression:serum RGD PMID:21085492 RGD:5144060 NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,417...105,307,842
JBrowse link
G NOTCH4 notch receptor 4 ISO DNA: SNPs: non-coding :multiple RGD PMID:21779181 RGD:6480691 NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:superficial vasculature (human) RGD PMID:20228226 RGD:11541095 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,582,481...14,723,336
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21979415 RGD:5508306 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA: snp: cds: rs2476601
DNA:missense mutation:cds:p.R620W (rs2476601) (human)
RGD PMID:16464986 PMID:21131644 RGD:6484551 RGD:7829741 NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
JBrowse link
G RHOB ras homolog family member B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21750679 NCBI chr 3:117,773,400...117,777,569
Ensembl chr 3:117,773,405...117,777,574
JBrowse link
G S1PR5 sphingosine-1-phosphate receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29033951 NCBI chr 2:69,293,537...69,299,408
Ensembl chr 2:69,293,543...69,298,377
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:dermis,microvessel: RGD PMID:26414805 RGD:11343779 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G SERPINF2 serpin family F member 2 ISO protein:increased expression:plasma RGD PMID:12595617 RGD:1625530 NCBI chr12:47,934,551...47,942,283
Ensembl chr12:47,933,864...47,942,287
JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:25707573 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,157...71,123,299
JBrowse link
G SIRT7 sirtuin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25707573 NCBI chr12:1,078,155...1,084,112
Ensembl chr12:1,077,868...1,084,119
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:repeat, polymorphism:promoter, intron: (human) RGD PMID:17876529 RGD:5684940 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility ISO DNA:SNP:intron: (rs7574865) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs11889341) (human)
RGD
CTD
PMID:19644887 PMID:19950257 PMID:20383147 RGD:8661700 RGD:8661711 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,653,861...95,763,448
JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21750679 NCBI chr16:71,926,038...71,979,969
Ensembl chr16:71,926,133...71,979,967
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:serum:
protein:increased expression:bone marrow:
protein:increased expression:skin
mRNA,protein:increased expression:skin:
RGD PMID:16426919 PMID:21636803 PMID:22271757 PMID:24387171 RGD:5684416 RGD:7421579 RGD:8548659 RGD:8551843 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
G VWF von Willebrand factor severity ISO RGD PMID:22596213 RGD:7205639 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,098
JBrowse link
transient bullous dermolysis of the newborn 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 OMIM NCBI chr13:31,262,750...31,295,112 JBrowse link
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 OMIM NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,556,912...93,615,815
JBrowse link
Warburg-Cinotti Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDR2 discoidin domain receptor tyrosine kinase 2 ISO OMIM NCBI chr 4:87,749,738...87,911,818
Ensembl chr 4:87,756,168...87,911,375
JBrowse link
X-linked Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATG4A autophagy related 4A cysteine peptidase ISO ClinVar Annotator: match by term: NEPHROPATHY AND DEAFNESS, X-LINKED ClinVar NCBI chr  X:88,545,924...88,633,328
Ensembl chr  X:88,545,924...88,633,321
JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12028435 PMID:17396119 PMID:19129241 PMID:19675380 PMID:20029656 PMID:24033266 PMID:24130771 PMID:25514610 PMID:25575550 PMID:25741868 PMID:25755845 PMID:26467025 PMID:28492532 PMID:28780565 NCBI chr15:128,472,228...128,612,302
Ensembl chr15:128,472,228...128,612,379
JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO OMIM NCBI chr  X:88,958,837...89,183,306
Ensembl chr  X:88,958,825...89,183,374
JBrowse link
G COL4A6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: NEPHROPATHY AND DEAFNESS, X-LINKED
ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar PMID:9195222 PMID:11223851 PMID:18584212 PMID:19444485 PMID:21380622 NCBI chr  X:88,634,925...88,750,938
Ensembl chr  X:88,634,925...88,957,402
JBrowse link
G MSR1 macrophage scavenger receptor 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 PMID:25741868 PMID:28492532 NCBI chr17:3,859,903...3,939,612
Ensembl chr17:3,857,171...3,939,726
JBrowse link
X-linked cardiac valvular dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO OMIM NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,142...124,917,171
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12649
    disease of anatomical entity 12188
      Skin and Connective Tissue Diseases 4793
        connective tissue disease 3591
          collagen disease 285
            Alport syndrome + 12
            Cardiomyopathy Hypogonadism Collagenoma Syndrome 0
            Collagenosis, Familial Reactive Perforating 0
            Ehlers-Danlos syndrome + 97
            Familial Cutaneous Collagenoma 1
            Keloid + 38
            Kniest dysplasia 1
            Necrobiotic Disorders + 0
            disseminated eosinophilic collagen disease 0
            epidermolysis bullosa dystrophica + 4
            mixed connective tissue disease 7
            osteogenesis imperfecta + 35
            polymyalgia rheumatica 6
            scleroderma + 107
paths to the root