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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
DNA:deletion, nonsense mutations
CTD
ClinVar
RGD
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 chrNW_004936525:8,642,744...8,774,975 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 chrNW_004936525:8,788,753...8,899,671 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 chrNW_004936499:6,143,736...6,360,565 JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chrNW_004936551:5,107,567...5,117,843 JBrowse link
G Myh9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chrNW_004936492:4,384,215...4,466,229 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 chrNW_004936499:6,421,930...6,640,429 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 chrNW_004936525:8,642,744...8,774,975 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 chrNW_004936525:8,788,753...8,899,671 JBrowse link
G Myh9 myosin heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chrNW_004936492:4,384,215...4,466,229 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 chrNW_004936529:348,938...381,701 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 chrNW_004936512:9,923,593...9,929,517 JBrowse link
autosomal recessive 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 chrNW_004936525:8,642,744...8,774,975 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO OMIM NCBI chrNW_004936525:8,788,753...8,899,671 JBrowse link
G LOC101964209 C-C chemokine receptor type 1 ISO RGD PMID:15716328 RGD:5688157 NCBI chrNW_004936596:177,774...183,186 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 chrNW_004936471:3,930,167...3,932,356 JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: BRITTLE CORNEA SYNDROME 1
ClinVar Annotator: match by term: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
ClinVar PMID:28492532 NCBI chrNW_004936662:388,279...524,803 JBrowse link
G Znf469 zinc finger protein 469 ISO OMIM NCBI chrNW_004936641:1,193,085...1,205,283 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 chrNW_004936662:388,279...524,803 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 chrNW_004936490:16,712,843...16,720,438 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 chrNW_004936490:16,712,843...16,720,438 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 chrNW_004936519:9,053,192...9,139,221 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 chrNW_004936594:5,368,199...5,379,215 JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936869:485,706...566,591 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 chrNW_004936594:5,368,199...5,379,215 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 chrNW_004936869:485,706...566,591 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 chrNW_004936582:920,852...978,167 JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chrNW_004936471:10,747,030...10,969,223 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 chrNW_004936578:3,168,599...3,179,369 JBrowse link
G Agt angiotensinogen ISO protein:increased expression:serum RGD PMID:14730619 RGD:8548886 NCBI chrNW_004936484:19,713,299...19,721,144 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 chrNW_004936520:1,207,078...1,284,679 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 chrNW_004936589:2,504,235...2,536,778 JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9034992 RGD:5684371 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Il13 interleukin 13 ISO DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) RGD PMID:16832637 RGD:5684369 NCBI chrNW_004936647:2,529,933...2,532,503 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 chrNW_004936809:891,407...900,311 JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chrNW_004936482:17,537,697...17,581,320 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 chrNW_004936506:7,091,982...7,185,938 JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chrNW_004936476:25,899,514...25,907,690 JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chrNW_004936476:25,913,699...25,923,419 JBrowse link
G Tlr2 toll like receptor 2 disease_progression ISO DNA:polymorphism:cds:p.P631H(rs5743704)(human) RGD PMID:21905008 RGD:8553044 NCBI chrNW_004936576:522,234...531,660 JBrowse link
G Wrn WRN RecQ like helicase ISO RGD PMID:16906373 RGD:10042980 NCBI chrNW_004936792:862,659...1,005,065 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 chrNW_004936739:1,394,119...1,643,422 JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 susceptibility ISO DNA:transition:exon;808C>T RGD PMID:10473568 RGD:1599433 NCBI chrNW_004936597:1,890,737...1,900,702 JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar NCBI chrNW_004936709:709,001...719,758 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:transition mutation:splice junction: RGD PMID:24443344 RGD:11571617 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO RGD PMID:15077201 RGD:1581198 NCBI chrNW_004936585:5,650,322...5,686,393 JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
DNA:deletion:exon
DNA:mutation
DNA:deletion:promoter, exons, introns
DNA:mutations:multiple (human)
CTD
ClinVar
RGD
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 chrNW_004936506:8,886,494...8,923,921 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 chrNW_004936669:2,474,381...2,613,541 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 chrNW_004936506:8,739,475...8,873,073 JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 NCBI chrNW_004936809:1,097,288...1,123,206 JBrowse link
G Lox lysyl oxidase ISO RGD PMID:8638917 RGD:1581895 NCBI chrNW_004936575:2,526,067...2,533,996 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 chrNW_004936474:740,582...763,294 JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G74D (human)
RGD
CTD
PMID:18985159 RGD:11553861 NCBI chrNW_004936562:1,811,479...1,825,857 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO protein:increased expression:plasma: RGD PMID:24399159 RGD:11073604 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
G Tnxb tenascin XB ISO RGD PMID:11642233 RGD:1599494 NCBI chrNW_004936727:1,492,725...1,550,762 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 chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type ClinVar NCBI chrNW_004936585:5,650,322...5,686,393 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 chrNW_004936669:2,474,381...2,613,541 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 chrNW_004936506:8,739,475...8,873,073 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 chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO OMIM NCBI chrNW_004936585:5,650,322...5,686,393 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 chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO OMIM NCBI chrNW_004936585:5,650,322...5,686,393 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 chrNW_004936570:1,315,192...1,322,719 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 chrNW_004936669:3,449,259...3,478,471 JBrowse link
G Adamtsl2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:3,363,991...3,397,099 JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936487:19,212,155...19,321,601 JBrowse link
G Barhl1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936487:19,112,479...19,119,677 JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:2,993,284...3,023,185 JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:3,439,174...3,448,637 JBrowse link
G Casd1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936585:5,549,161...5,584,181 JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936487:19,463,219...19,472,029 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 chrNW_004936487:18,986,966...19,103,044 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 chrNW_004936490:11,448,552...11,465,836 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 chrNW_004936585:5,650,322...5,686,393 JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO OMIM NCBI chrNW_004936669:2,474,381...2,613,541 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 chrNW_004936506:8,739,475...8,873,073 JBrowse link
G CUNH9orf116 chromosome unknown C9orf116 homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:2,067,544...2,072,052 JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:3,302,014...3,326,233 JBrowse link
G Ddx31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936487:19,123,422...19,179,285 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 chrNW_004936669:3,337,490...3,363,077 JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chrNW_004936809:1,097,288...1,123,206 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 chrNW_004936487:19,520,232...19,529,199 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 chrNW_004936487:19,414,135...19,417,465 JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:1,945,250...1,952,652 JBrowse link
G Gtf3c4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936487:19,183,596...19,202,407 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 chrNW_004936487:19,438,537...19,455,712 JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:1,834,879...1,867,572 JBrowse link
G Lcn1 lipocalin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:1,996,399...2,000,130 JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:1,930,222...1,932,053 JBrowse link
G LOC101971854 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:3,527,741...3,532,087 JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936762:460,342...483,264 JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:3,535,646...3,541,643 JBrowse link
G Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936487:18,523,979...18,711,584 JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:2,064,046...2,066,136 JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:25741868 NCBI chrNW_004936501:3,223,057...3,313,487 JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:3,404,729...3,413,123 JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936487:18,779,470...18,838,245 JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:2,291,328...2,314,414 JBrowse link
G Pomt1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936487:18,249,472...18,267,875 JBrowse link
G Ppp1r26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:2,074,225...2,081,872 JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936487:19,475,361...19,501,347 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 chrNW_004936487:18,305,537...18,411,170 JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:3,479,778...3,504,938 JBrowse link
G Rpl7a ribosomal protein L7a ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:3,532,139...3,534,586 JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:2,735,111...2,763,060 JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:3,244,302...3,297,906 JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936487:18,858,384...18,945,253 JBrowse link
G Sgce sarcoglycan epsilon ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936585:5,451,312...5,520,391 JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chrNW_004936514:6,490,728...6,504,152 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 chrNW_004936669:3,432,206...3,438,849 JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:1,901,892...1,912,184 JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936487:19,322,207...19,331,434 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 chrNW_004936669:3,492,507...3,511,297 JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:3,524,070...3,527,697 JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:3,518,616...3,523,808 JBrowse link
G Surf6 surfeit 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:3,543,250...3,548,756 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 chrNW_004936524:7,656,523...7,680,043 JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936487:19,331,183...19,386,841 JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936487:18,956,364...18,983,850 JBrowse link
G Uck1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936487:18,267,878...18,271,406 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 chrNW_004936669:3,062,538...3,234,167 JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chrNW_004936669:2,943,759...2,959,788 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 chrNW_004936490:11,448,552...11,465,836 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 chrNW_004936585:5,650,322...5,686,393 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 chrNW_004936669:2,474,381...2,613,541 JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO OMIM NCBI chrNW_004936506:8,739,475...8,873,073 JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 ClinVar PMID:25741868 NCBI chrNW_004936501:3,223,057...3,313,487 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 chrNW_004936727:1,492,725...1,550,762 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 chrNW_004936478:19,065,092...19,074,783 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 chrNW_004936739:1,394,119...1,643,422 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 chrNW_004936506:8,886,494...8,923,921 JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar NCBI chrNW_004936669:1,292,016...1,334,061 JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:25326637 NCBI chrNW_004936727:1,492,725...1,550,762 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 chrNW_004936474:767,754...795,258 JBrowse link
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO OMIM NCBI chrNW_004936474:740,582...763,294 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 chrNW_004936478:6,296,598...6,310,405 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 chrNW_004936471:3,930,167...3,932,356 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 chrNW_004936824:957,783...995,465 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 chrNW_004936737:1,887,250...1,889,055 JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO OMIM NCBI chrNW_004936597:1,890,737...1,900,702 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 chrNW_004936737:1,836,851...1,850,279 JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chrNW_004936737:2,010,647...2,041,401 JBrowse link
G B3galt6 beta-1,3-galactosyltransferase 6 ISO OMIM NCBI chrNW_004936737:1,887,250...1,889,055 JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES
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 chrNW_004936597:1,890,737...1,900,702 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 chrNW_004936737:1,877,428...1,881,345 JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chrNW_004936737:1,975,031...1,991,058 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 chrNW_004936737:1,820,472...1,833,301 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 chrNW_004936737:2,043,383...2,044,761 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 chrNW_004936737:1,833,298...1,836,101 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 chrNW_004936737:1,992,117...1,997,810 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 chrNW_004936737:1,851,185...1,854,923 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 chrNW_004936737:1,889,123...1,898,303 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 chrNW_004936737:1,905,307...1,910,356 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 chrNW_004936737:1,901,749...1,904,382 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 chrNW_004936737:1,910,286...1,926,061 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 chrNW_004936737:1,862,577...1,875,216 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 chrNW_004936562:1,811,479...1,825,857 JBrowse link
Ehlers-Danlos Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4
ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV
ClinVar PMID:1352273, PMID:1357232, PMID:1370809, PMID:1496983, PMID:1568754, 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 chrNW_004936506:8,886,494...8,923,921 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 chrNW_004936506:8,739,475...8,873,073 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 chrNW_004936506:8,396,593...8,415,069 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 chrNW_004936506:8,502,795...8,529,305 JBrowse link
Ehlers-Danlos Syndrome Type 7 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, 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 chrNW_004936490:11,448,552...11,465,836 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 chrNW_004936585:5,650,322...5,686,393 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 chrNW_004936709:709,001...719,758 JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE ClinVar PMID:27745832 NCBI chrNW_004936709:731,211...742,583 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 chrNW_004936709:709,001...719,758 JBrowse link
G C1s complement C1s ISO OMIM NCBI chrNW_004936709:731,211...742,583 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 chrNW_004936529:348,938...381,701 JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chrNW_004936478:20,511,490...20,518,251 JBrowse link
G Mmp1 matrix metallopeptidase 1 severity ISO DNA:insertion:promoter:g.-1607_-1606insG (human) OMIM
RGD
PMID:18030675 RGD:8549728 NCBI chrNW_004936551:5,167,909...5,175,149 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 chrNW_004936529:348,938...381,701 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 chrNW_004936529:348,938...381,701 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 chrNW_004936529:348,938...381,701 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 chrNW_004936545:3,385,821...3,453,861 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 chrNW_004936654:2,891,019...2,976,465 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 chrNW_004936737:765,125...766,432 JBrowse link
G Agpat5 1-acylglycerol-3-phosphate O-acyltransferase 5 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chrNW_004936615:4,652,141...4,691,496 JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936594:5,383,370...5,386,618 JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chrNW_004936554:104,666...141,761 JBrowse link
G Aspn asporin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936487:2,080,014...2,104,534 JBrowse link
G Capg capping actin protein, gelsolin like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936712:1,793,666...1,803,621 JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936727:1,797,966...1,803,401 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936506:8,886,494...8,923,921 JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936669:2,474,381...2,613,541 JBrowse link
G Crabp1 cellular retinoic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936471:36,665,641...36,672,626 JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936595:604,268...609,075 JBrowse link
G Fgg fibrinogen gamma chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936576:1,343,657...1,352,085 JBrowse link
G Foxl2 forkhead box L2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chrNW_004936540:1,136,403...1,137,984 JBrowse link
G Fth1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936581:1,118,905...1,120,592 JBrowse link
G Ftl ferritin light chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936664:2,976,325...2,977,878 JBrowse link
G Lgals1 galectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936492:3,407,704...3,411,197 JBrowse link
G Mif macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936619:1,207,058...1,208,010 JBrowse link
G Mydgf myeloid derived growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936588:2,706,329...2,716,545 JBrowse link
G Myl6b myosin light chain 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936646:562,854...566,894 JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chrNW_004936471:17,254,777...17,374,725 JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:30311386 NCBI chrNW_004936669:606,392...614,748 JBrowse link
G Pfn1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936677:2,762,971...2,766,038 JBrowse link
G Prdx1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936474:26,641,776...26,653,291 JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936659:1,894,423...1,897,690 JBrowse link
G Ran RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936660:1,669,352...1,673,972 JBrowse link
G S100a10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936580:2,159,582...2,162,832 JBrowse link
G S100a4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936580:3,355,751...3,358,030 JBrowse link
G S100a8 S100 calcium binding protein A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936580:3,256,399...3,256,913 JBrowse link
G S100a9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936580:3,228,097...3,230,652 JBrowse link
G Serpinb5 serpin family B member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936497:2,067,796...2,089,965 JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:skin of body (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20128793 RGD:27226709 NCBI chrNW_004936538:7,885,816...7,898,308 JBrowse link
G Sfn stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936474:11,274,927...11,279,427 JBrowse link
G Tagln transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936542:2,445,825...2,451,216 JBrowse link
G Tpm1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936471:23,643,645...23,670,775 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 chrNW_004936512:5,861,933...5,894,898 JBrowse link
limited scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1 susceptibility
no_association
ISO DNA:SNPs:enhancer, intron:multiple
DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human)
RGD PMID:22402147 RGD:8661768 NCBI chrNW_004936589:2,504,235...2,536,778 JBrowse link
G Fas Fas cell surface death receptor ISO RGD PMID:17102953 RGD:12903974 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Faslg Fas ligand ISO RGD PMID:17102953 RGD:12903974 NCBI chrNW_004936481:14,789,547...14,795,780 JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-384T>G(human) RGD PMID:17444587 RGD:4142872 NCBI chrNW_004936662:1,594,953...1,599,625 JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:20808962 RGD:4892610 NCBI chrNW_004936503:111,722...243,627 JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chrNW_004936482:17,537,697...17,581,320 JBrowse link
G Pgf placental growth factor ISO protein:increased expression:plasma RGD PMID:22461185 RGD:6483571 NCBI chrNW_004936488:4,098,187...4,111,108 JBrowse link
G Serpine1 serpin family E member 1 ISO mRNA,protein:increased expression:skin: RGD PMID:15730388 RGD:13208597 NCBI chrNW_004936543:1,032,543...1,040,956 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 chrNW_004936506:7,091,982...7,185,938 JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chrNW_004936476:25,913,699...25,923,419 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 chrNW_004936490:11,448,552...11,465,836 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 chrNW_004936476:22,717,308...22,725,127 JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15863969 NCBI chrNW_004936490:15,142,526...15,146,375 JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:14712301 RGD:8548627 NCBI chrNW_004936734:354,798...428,356 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:7916356 RGD:8158116 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12920362 RGD:8549537 NCBI chrNW_004936647:2,529,933...2,532,503 JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15726408 NCBI chrNW_004936580:5,374,208...5,395,442 JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:9804345 RGD:1582543 NCBI chrNW_004936551:5,167,909...5,175,149 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO RGD PMID:7510487 RGD:7394847 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9843018 NCBI chrNW_004936727:1,936,066...1,937,766 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 chrNW_004936735:209,369...234,582 JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chrNW_004936471:10,747,030...10,969,223 JBrowse link
G Ifng interferon gamma ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chrNW_004936545:6,139,130...6,144,543 JBrowse link
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO RGD PMID:2968364 RGD:10448928 NCBI chrNW_004936485:16,142,231...16,161,761 JBrowse link
G Snrpc small nuclear ribonucleoprotein polypeptide C ISO associated with Hypertension, Pulmonary RGD PMID:10555891 RGD:10766447 NCBI chrNW_004936476:24,371,268...24,389,355 JBrowse link
G Tlr3 toll like receptor 3 ISO RGD PMID:16453294 RGD:5129221 NCBI chrNW_004936554:3,370,766...3,388,125 JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chrNW_004936727:1,936,066...1,937,766 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 chrNW_004936683:2,874,022...2,936,214 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 chrNW_004936490:11,448,552...11,465,836 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 chrNW_004936555:5,990,822...6,023,864 JBrowse link
G Col1a1 collagen type I alpha 1 chain severity ISO DNA:mutation:splice junction:c.1875+1G>A (IVS 27+1G>A)(human)
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein disease
ClinVar Annotator: match by term: Lobstein's Disease
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
DNA:transversion mutation:intron:
DNA:transition mutation:splice junction:
DNA:mutations:exons: c.97G > A,c.1209T > A,c.3702C > T(human)
DNA:deletion: :
DNA:snp:intron:c.3207+1G>A (human)
DNA:mutation:exon:c.3235G>A(p.G1079S)(human)
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 chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO DNA:mutations, haplotype (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:mutation:exon:c.87T > C(human)
DNA:snp:cds:p.G328S (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 chrNW_004936585:5,650,322...5,686,393 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 chrNW_004936473:23,451,394...23,472,645 JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chrNW_004936490:16,712,843...16,720,438 JBrowse link
G Lrp5 LDL receptor related protein 5 treatment ISO RGD PMID:24677211 RGD:12792279 NCBI chrNW_004936599:1,746,309...1,814,471 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 chrNW_004936474:24,077,270...24,093,399 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 chrNW_004936471:24,633,769...24,640,246 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 chrNW_004936538:7,885,816...7,898,308 JBrowse link
G Serpinh1 serpin family H member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chrNW_004936498:4,341,944...4,351,432 JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:24033266, PMID:25741868 NCBI chrNW_004936555:5,966,610...5,982,083 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 chrNW_004936471:24,630,337...24,633,281 JBrowse link
G Sp7 Sp7 transcription factor ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chrNW_004936512:10,610,542...10,613,335 JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:1793673 NCBI chrNW_004936515:11,026,156...11,046,812 JBrowse link
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 NCBI chrNW_004936512:6,781,001...6,785,358 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 chrNW_004936490:11,448,552...11,465,836 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 chrNW_004936585:5,650,322...5,686,393 JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chrNW_004936490:11,553,904...11,583,387 JBrowse link
G Pdk2 pyruvate dehydrogenase kinase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chrNW_004936490:11,534,412...11,549,128 JBrowse link
G Ppp1r9b protein phosphatase 1 regulatory subunit 9B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chrNW_004936490:11,497,389...11,514,191 JBrowse link
G Samd14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chrNW_004936490:11,517,464...11,534,184 JBrowse link
G Sgca sarcoglycan alpha ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chrNW_004936490:11,470,155...11,482,377 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 chrNW_004936498:4,341,944...4,351,432 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 chrNW_004936490:16,712,843...16,720,438 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 chrNW_004936490:16,712,843...16,720,438 JBrowse link
G Sp7 Sp7 transcription factor ISO OMIM NCBI chrNW_004936512:10,610,542...10,613,335 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 chrNW_004936555:5,990,822...6,023,864 JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: OI, TYPE XIII ClinVar NCBI chrNW_004936555:5,966,610...5,982,083 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 chrNW_004936559:6,501,890...6,553,446 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 chrNW_004936512:6,781,001...6,785,358 JBrowse link
G Wnt10b Wnt family member 10B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xv ClinVar PMID:25741868, PMID:29481978 NCBI chrNW_004936512:6,768,240...6,774,172 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 chrNW_004936562:2,739,908...2,772,484 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 chrNW_004936515:11,026,156...11,046,812 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 chrNW_004936510:8,813,977...8,820,909 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 chrNW_004936624:2,464,152...2,510,984 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 chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO OMIM NCBI chrNW_004936585:5,650,322...5,686,393 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 chrNW_004936483:19,697,241...19,706,719 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 chrNW_004936490:11,448,552...11,465,836 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 chrNW_004936555:5,990,822...6,023,864 JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chrNW_004936730:466,912...680,823 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO OMIM NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO OMIM NCBI chrNW_004936585:5,650,322...5,686,393 JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chrNW_004936506:8,739,475...8,873,073 JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chrNW_004936490:16,712,843...16,720,438 JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chrNW_004936474:24,077,270...24,093,399 JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chrNW_004936538:7,885,816...7,898,308 JBrowse link
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chrNW_004936512:6,781,001...6,785,358 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 chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO OMIM NCBI chrNW_004936585:5,650,322...5,686,393 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 chrNW_004936888:160,734...161,960 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 chrNW_004936538:7,885,816...7,898,308 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 chrNW_004936473:23,451,394...23,472,645 JBrowse link
G Glb1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chrNW_004936473:23,348,431...23,440,271 JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chrNW_004936473:23,435,933...23,440,173 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 chrNW_004936474:24,077,270...24,093,399 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 chrNW_004936471:24,633,769...24,640,246 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 chrNW_004936471:24,630,337...24,633,281 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 chrNW_004936599:1,746,309...1,814,471 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 chrNW_004936506:8,886,494...8,923,921 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 chrNW_004936496:7,759,656...7,761,555 JBrowse link
G Crp C-reactive protein treatment ISO RGD PMID:2859021 RGD:9495925 NCBI chrNW_004936740:885,855...888,854 JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30657865 RGD:14746966 NCBI chrNW_004936671:1,940,079...1,947,574 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 chrNW_004936541:4,873,459...4,919,787 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 chrNW_004936529:348,938...381,701 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 chrNW_004936529:348,938...381,701 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 chrNW_004936526:2,254,463...2,282,785 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 chrNW_004936471:25,501,538...25,517,033 JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Scleroderma ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936562:1,811,479...1,825,857 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 chrNW_004936687:1,728,848...1,803,992 JBrowse link
systemic scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chrNW_004936735:266,918...283,858 JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO protein:decreased expression:plasma (human) RGD PMID:12935979 RGD:10449040 NCBI chrNW_004936669:3,449,259...3,478,471 JBrowse link
G Ager advanced glycosylation end-product specific receptor ISO protein:increased expression:serum RGD PMID:18825489 RGD:8695973 NCBI chrNW_004936727:1,418,342...1,422,005 JBrowse link
G Agt angiotensinogen ISO protein:decreased expression:plasma RGD PMID:17360781 RGD:8548889 NCBI chrNW_004936484:19,713,299...19,721,144 JBrowse link
G Anxa5 annexin A5 severity ISO RGD PMID:21124692 RGD:7242029 NCBI chrNW_004936662:926,302...959,964 JBrowse link
G Arpc2 actin related protein 2/3 complex subunit 2 ISO protein:increased expression:saliva (human) RGD PMID:17722226 RGD:11049167 NCBI chrNW_004936569:758,358...786,995 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 chrNW_004936520:1,207,078...1,284,679 JBrowse link
G Bdnf brain derived neurotrophic factor ISO protein:decreased expression:serum: RGD PMID:21085492 RGD:5144060 NCBI chrNW_004936540:5,530,081...5,582,765 JBrowse link
G C3 complement C3 ISO protein:increased expression:plasma RGD PMID:2803327 RGD:7421518 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G Cav1 caveolin 1 susceptibility ISO protein:decreased expression:lung, skin
DNA:SNPs:enhancer, intron: (rs7795356, rs926198, rs959173) (human)
RGD PMID:18759267, PMID:22402147 RGD:8661768, RGD:8661773 NCBI chrNW_004936589:2,504,235...2,536,778 JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO mRNA:increased expression:skin RGD PMID:21742595 RGD:7483587 NCBI chrNW_004936525:8,238,128...8,240,974 JBrowse link
G Ccn1 cellular communication network factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chrNW_004936608:152,174...155,123 JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chrNW_004936560:42,561...45,748 JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO mRNA:increased expression:skin RGD PMID:21742595 RGD:7483587 NCBI chrNW_004936489:16,669,297...16,689,451 JBrowse link
G Cd247 CD247 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chrNW_004936481:18,544,129...18,605,239 JBrowse link
G Cd86 CD86 molecule ISO DNA:snp:5' utr:g.-3479T>G (human) RGD PMID:16790753 RGD:4892554 NCBI chrNW_004936536:8,414,491...8,481,712 JBrowse link
G Cfb complement factor B ISO protein:increased expression:plasma RGD PMID:2803327 RGD:7421518 NCBI chrNW_004936727:1,595,872...1,602,274 JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:16195162 RGD:4892666 NCBI chrNW_004936567:1,411,080...1,418,332 JBrowse link
G Clu clusterin ISO protein:increased expression:serum RGD PMID:22350181 RGD:8898558 NCBI chrNW_004936675:499,745...513,515 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO RGD PMID:1697606 RGD:5688336 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chrNW_004936585:5,650,322...5,686,393 JBrowse link
G Csf1 colony stimulating factor 1 ISO mRNA:increased expression:skin RGD PMID:22700848 RGD:7257593 NCBI chrNW_004936704:1,372,137...1,393,355 JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:serum RGD PMID:15608300 RGD:4891898 NCBI chrNW_004936475:9,443,851...9,454,715 JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO DNA:polymorphisms: :p.V249I, p.T280M (human)
protein:increased expression:lung, skin
RGD PMID:15608300, PMID:16584113, PMID:23142052 RGD:4891896, RGD:4891898, RGD:9479741 NCBI chrNW_004936473:28,508,726...28,535,640 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 chrNW_004936676:60,869...63,028 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 chrNW_004936677:3,157,173...3,162,599 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 chrNW_004936676:33,580...40,323 JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO protein:decreased expression:skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chrNW_004936762:66,636...69,694 JBrowse link
G Cxcr6 C-X-C motif chemokine receptor 6 ISO protein:increased expression:skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chrNW_004936596:31,641...44,561 JBrowse link
G Edn1 endothelin 1 ISO protein:increased secretion:plasma (human) RGD PMID:7653485 RGD:4145072 NCBI chrNW_004936534:885,489...892,292 JBrowse link
G Eln elastin ISO RGD PMID:22563211 RGD:9585742 NCBI chrNW_004936543:3,135,169...3,165,023 JBrowse link
G Esr1 estrogen receptor 1 susceptibility ISO DNA:SNP:intron: RGD PMID:19032828 RGD:8553058 NCBI chrNW_004936489:4,616,839...4,887,179 JBrowse link
G Esr2 estrogen receptor 2 no_association ISO DNA:SNP:exon: RGD PMID:19032828 RGD:8553058 NCBI chrNW_004936495:7,956,168...8,018,356 JBrowse link
G F11r F11 receptor ISO RGD PMID:19153103 RGD:7488918 NCBI chrNW_004936903:317,975...338,892 JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma: RGD PMID:9374919 RGD:11565087 NCBI chrNW_004936562:2,371,725...2,388,617 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 chrNW_004936471:10,747,030...10,969,223 JBrowse link
G Flt4 fms related receptor tyrosine kinase 4 ISO protein:increased expression:skin: RGD PMID:21865112 RGD:8552335 NCBI chrNW_004936739:240,572...281,925 JBrowse link
G Fstl1 follistatin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chrNW_004936536:7,132,369...7,186,951 JBrowse link
G Hdac5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chrNW_004936541:561,721...598,915 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 chrNW_004936734:354,798...428,356 JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:serum RGD PMID:18825489 RGD:8695973 NCBI chrNW_004936472:25,236,728...25,246,585 JBrowse link
G Hnrnpl heterogeneous nuclear ribonucleoprotein L ISO RGD PMID:21569507 RGD:9999440 NCBI chrNW_004936661:1,793,791...1,806,564 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 chrNW_004936659:616,570...627,172 JBrowse link
G Ifng interferon gamma treatment ISO RGD PMID:1418004 RGD:8157622 NCBI chrNW_004936545:6,139,130...6,144,543 JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO protein:increased expression:serum: RGD PMID:19004037 RGD:12743606 NCBI chrNW_004936478:20,511,490...20,518,251 JBrowse link
G Il13 interleukin 13 no_association ISO protein:increased expression:serum
DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human)
mRNA, protein:increased expression:skin
RGD PMID:9034992, PMID:15564778, PMID:22045834 RGD:5684370, RGD:5684371, RGD:8549502 NCBI chrNW_004936647:2,529,933...2,532,503 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 chrNW_004936479:11,052,077...11,108,915 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 chrNW_004936476:8,621,860...8,625,008 JBrowse link
G Il1b interleukin 1 beta susceptibility ISO DNA:polymorphisms:promoter:-31T>C,-511C>T (human) RGD PMID:17444587 RGD:4142872 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO RGD PMID:1375465 RGD:8662902 NCBI chrNW_004936713:808,761...881,070 JBrowse link
G Il2 interleukin 2 ISO protein:increased expression:serum: RGD PMID:2213757 RGD:8663482 NCBI chrNW_004936662:1,594,953...1,599,625 JBrowse link
G Il23r interleukin 23 receptor no_association ISO DNA:SNPs: :rs11209026, rs11465804 (human)
DNA:SNPs: :rs11209032,rs1495965(human)
RGD PMID:18713787, PMID:19918037 RGD:5096624, RGD:8549603 NCBI chrNW_004936591:4,365,598...4,425,053 JBrowse link
G Il27 interleukin 27 ISO protein:increased expression:serum RGD PMID:20705635 RGD:5128477 NCBI chrNW_004936501:11,972,715...11,978,152 JBrowse link
G Il27ra interleukin 27 receptor subunit alpha ISO mRNA:increased expression:skin RGD PMID:20705635 RGD:5128477 NCBI chrNW_004936659:2,706,037...2,720,486 JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:serum
mRNA, protein:increased expression, splice variant:blood, mononuclear cell, plasma
RGD PMID:9034992, PMID:10473513 RGD:5684371, RGD:7829819 NCBI chrNW_004936647:2,510,457...2,518,576 JBrowse link
G Irf5 interferon regulatory factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chrNW_004936579:6,138,372...6,149,531 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 chrNW_004936684:1,689,594...1,762,066 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 chrNW_004936482:17,537,697...17,581,320 JBrowse link
G LOC101968921 angiotensin-converting enzyme ISO protein:decreased expression:plasma RGD PMID:17360781 RGD:8548889 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:SNP:intron:252A>G (human) RGD PMID:10600011 RGD:8548796 NCBI chrNW_004936727:1,940,081...1,941,022 JBrowse link
G Mmp1 matrix metallopeptidase 1 severity ISO protein:increased expression:serum
mRNA:decreased expression:skin
RGD PMID:12051403, PMID:22286923 RGD:8548651, RGD:8693663 NCBI chrNW_004936551:5,167,909...5,175,149 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:15642145 RGD:1580577 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:serum RGD PMID:19286849 RGD:4143496 NCBI chrNW_004936580:4,691,870...4,694,092 JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chrNW_004936706:1,470,910...1,498,986 JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:serum RGD PMID:21085492 RGD:5144060 NCBI chrNW_004936627:635,784...641,290 JBrowse link
G Notch4 notch receptor 4 ISO DNA: SNPs: non-coding :multiple RGD PMID:21779181 RGD:6480691 NCBI chrNW_004936727:1,386,842...1,409,823 JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:superficial vasculature (human) RGD PMID:20228226 RGD:11541095 NCBI chrNW_004936541:4,873,459...4,919,787 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21979415 RGD:5508306 NCBI chrNW_004936481:3,821,564...3,828,086 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 chrNW_004936690:2,180,804...2,232,869 JBrowse link
G Rhob ras homolog family member B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21750679 NCBI chrNW_004936493:10,987,801...10,990,207 JBrowse link
G S1pr5 sphingosine-1-phosphate receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29033951 NCBI chrNW_004936659:798,259...801,563 JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:dermis,microvessel: RGD PMID:26414805 RGD:11343779 NCBI chrNW_004936543:1,032,543...1,040,956 JBrowse link
G Serpinf2 serpin family F member 2 ISO protein:increased expression:plasma RGD PMID:12595617 RGD:1625530 NCBI chrNW_004936538:7,870,898...7,877,279 JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:25707573 NCBI chrNW_004936521:10,296,097...10,316,673 JBrowse link
G Sirt7 sirtuin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25707573 NCBI chrNW_004936594:5,418,331...5,425,050 JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:repeat, polymorphism:promoter, intron: (human) RGD PMID:17876529 RGD:5684940 NCBI chrNW_004936569:888,309...895,991 JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs7574865) (human)
DNA:SNP:intron: (rs11889341) (human)
CTD
RGD
PMID:19644887, PMID:19950257, PMID:20383147 RGD:8661700, RGD:8661711 NCBI chrNW_004936506:7,091,982...7,185,938 JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21750679 NCBI chrNW_004936647:3,914,887...3,959,698 JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA,protein:increased expression:skin:
protein:increased expression:bone marrow:
protein:increased expression:serum:
RGD PMID:16426919, PMID:21636803, PMID:22271757, PMID:24387171 RGD:5684416, RGD:7421579, RGD:8548659, RGD:8551843 NCBI chrNW_004936476:16,245,134...16,261,180 JBrowse link
G Vwf von Willebrand factor severity ISO RGD PMID:22596213 RGD:7205639 NCBI chrNW_004936709:1,578,137...1,741,877 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 chrNW_004936529:348,938...381,701 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 chrNW_004936506:8,886,494...8,923,921 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 chrNW_004936831:799,948...946,139 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 chrNW_004936499:6,641,192...6,691,685 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 chrNW_004936525:8,788,753...8,899,671 JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO OMIM NCBI chrNW_004936499:6,143,736...6,360,565 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 chrNW_004936499:6,421,930...6,640,429 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 chrNW_004936573:5,345,282...5,391,946 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 chrNW_004936809:1,097,288...1,123,206 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11962
    disease of anatomical entity 11526
      Skin and Connective Tissue Diseases 4606
        connective tissue disease 3447
          collagen disease 275
            Alport syndrome + 10
            Cardiomyopathy Hypogonadism Collagenoma Syndrome 0
            Collagenosis, Familial Reactive Perforating 0
            Ehlers-Danlos syndrome + 96
            Familial Cutaneous Collagenoma 1
            Keloid + 36
            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 4
            scleroderma + 101
paths to the root

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