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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


show annotations for term's descendants           Sort by:
 
Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A3 collagen type IV alpha 3 chain susceptibility ISO DNA:deletion, nonsense mutations
ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:7987301, PMID:11134255, PMID:12028435, PMID:12631109, PMID:14582039, PMID:14871398, PMID:15880327, PMID:15954103, PMID:17216251, PMID:18385178, PMID:19525337, PMID:20847057, PMID:21862460, PMID:22887978, PMID:23967202, PMID:24033266, PMID:24052634, PMID:24854265, PMID:25229338, PMID:25307543, PMID:25407002, PMID:25514610, PMID:25596306, PMID:25741868, PMID:25888712, PMID:26346198, PMID:26467025, PMID:26795916, PMID:26809805, PMID:26934356, PMID:27391953, PMID:27627812, PMID:27859054, PMID:28492532, PMID:28632965 RGD:1600924 NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782
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 chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189
JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO Alport Syndrome, OMIM:301050, DNA:deletion:exons
ClinVar Annotator: match by term: Alport syndrome
RGD
ClinVar
PMID:2349482, PMID:8651292, PMID:9848783, PMID:10563487, PMID:11223851, PMID:18083113, PMID:19919694, PMID:23572034, PMID:25741868, PMID:26467025, PMID:27627812, PMID:28492532 RGD:1600687 NCBI chr  X:81,982,119...82,248,428
Ensembl chr  X:81,982,275...82,247,679
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphism: :HLA-DRB1*16(human) RGD PMID:15182324 RGD:7365078 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309
JBrowse link
G MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) ISO protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222
JBrowse link
G MYH9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
JBrowse link
AMME complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A6 collagen type IV alpha 6 chain ISO OMIM NCBI chr  X:81,690,047...81,981,005
Ensembl chr  X:81,691,417...81,980,703
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 chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782
JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant
ClinVar PMID: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 chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189
JBrowse link
G MYH9 myosin heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
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 chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
JBrowse link
G KRT81 keratin 81 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:7520042, PMID:8807337, PMID:25741868, PMID:30311386 NCBI chr27:2,776,693...2,782,016 JBrowse link
autosomal recessive Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR1 chemokine (C-C motif) receptor 1 ISO RGD PMID:15716328 RGD:5688157 NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO OMIM NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782
JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO OMIM NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189
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 chr30:7,640,988...7,643,576
Ensembl chr30:7,640,637...7,642,778
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 chr19:19,129,418...19,327,377
Ensembl chr19:19,129,081...19,325,590
JBrowse link
G ZNF469 zinc finger protein 469 ISO OMIM NCBI chr 5:64,887,534...64,903,553 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 chr19:19,129,418...19,327,377
Ensembl chr19:19,129,081...19,325,590
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 chr 9:21,001,227...21,009,995
Ensembl chr 9:21,001,577...21,009,927
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 chr 9:21,001,227...21,009,995
Ensembl chr 9:21,001,577...21,009,927
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 chr23:41,290,183...41,382,917
Ensembl chr23:41,290,567...41,382,807
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 chr 9:427,827...436,880
Ensembl chr 9:427,830...436,064
JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr32:37,690,158...37,795,762
Ensembl chr32:37,690,399...37,924,252
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 chr 9:427,827...436,880
Ensembl chr 9:427,830...436,064
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 chr32:37,690,158...37,795,762
Ensembl chr32:37,690,399...37,924,252
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 chr13:58,013,218...58,091,347
Ensembl chr13:58,013,212...58,231,200
JBrowse link
G FBN1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
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 chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
JBrowse link
G AGT angiotensinogen ISO protein:increased expression:serum RGD PMID:14730619 RGD:8548886 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
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 chr32:23,322,654...23,603,233
Ensembl chr32:23,323,122...23,602,383
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 chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935
JBrowse link
G IL10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9034992 RGD:5684371 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL13 interleukin 13 ISO DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) RGD PMID:16832637 RGD:5684369 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:20338043 RGD:12792275 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 susceptibility ISO DNA:missense mutation:cds:p.F196S (rs1059702) (human) RGD PMID:21898345 RGD:7495782 NCBI chr  X:121,853,340...121,862,582
Ensembl chr  X:121,819,432...121,862,576
JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G LOC106557449 alveolar macrophage chemotactic factor-like ISO RGD PMID:18432520 RGD:5135258 NCBI chr13:62,514,244...62,516,439
Ensembl chr13:62,513,898...62,515,218
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility
no_association
ISO DNA:SNP:introns: (rs7574865, rs10168266) (human)
DNA:SNP:intron: (rs3821236) (human)
DNA:SNP:intron: (rs7574865) (human)
RGD PMID:19286670, PMID:23755762 RGD:8661701, RGD:8661714 NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TLR2 toll like receptor 2 disease_progression ISO DNA:polymorphism:cds:p.P631H(rs5743704)(human) RGD PMID:21905008 RGD:8553044 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G WRN WRN RecQ like helicase ISO RGD PMID:16906373 RGD:10042980 NCBI chr16:33,164,662...33,304,466
Ensembl chr16:33,167,364...33,304,625
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 chr11:2,279,983...2,504,630
Ensembl chr11:2,280,108...2,502,635
JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 susceptibility ISO DNA:transition:exon;808C>T RGD PMID:10473568 RGD:1599433 NCBI chr11:3,497,860...3,507,513
Ensembl chr11:3,498,153...3,505,034
JBrowse link
G B9D2 B9 domain containing 2 ISO protein:increased expression:plasma: RGD PMID:24399159 RGD:11073604 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar NCBI chr27:37,951,137...37,960,687
Ensembl chr27:37,950,246...37,960,557
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO DNA:transition mutation:splice junction: RGD PMID:24443344 RGD:11571617 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO RGD PMID:15077201 RGD:1581198 NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO DNA:mutation
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
DNA:deletion:promoter, exons, introns
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon
RGD
ClinVar
CTD
PMID:1370809, PMID:2049575, PMID:10706896, PMID:16012458, PMID:21071432, PMID:21086191, PMID:24033266, PMID:25637381, PMID:25741868, PMID:25758994, PMID:25846194, PMID:27011056, PMID:27964749, PMID:28492532, PMID:28748566, PMID:30374176 RGD:11041599, RGD:11041602, RGD:1300381, RGD:7257554 NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO DNA:repeat:intron:IVS17 (human)
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
RGD
ClinVar
PMID:8752669, PMID:10777716, PMID:11278977, PMID:12145749 RGD:1581210, RGD:1581211, RGD:1581212, RGD:734808 NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728
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 chr36:30,538,863...30,677,450
Ensembl chr36:30,540,229...30,691,564
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203
JBrowse link
G LOX lysyl oxidase ISO RGD PMID:8638917 RGD:1581895 NCBI chr11:12,023,645...12,040,015
Ensembl chr11:12,027,250...12,039,819
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:84,320,529...84,343,562
Ensembl chr 2:84,320,529...84,343,562
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 chr18:42,221,311...42,229,992
Ensembl chr18:42,222,333...42,227,361
JBrowse link
G TNXB tenascin XB ISO RGD PMID:11642233 RGD:1599494 NCBI chr12:1,453,227...1,510,171
Ensembl chr12:1,453,260...1,509,749
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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type ClinVar NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A ClinVar PMID:10471441, PMID:10602121, PMID:10946364, PMID:11992482, PMID:12145749, PMID:15580559, PMID:19019335, PMID:19370768, PMID:20635400, PMID:20979576, PMID:22696272, PMID:24033266, PMID:24685354, PMID:24951259, PMID:25741868, PMID:26608033, PMID:26854089, PMID:28492532, PMID:30311386, PMID:30858776 NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728
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 chr36:30,538,863...30,677,450
Ensembl chr36:30,540,229...30,691,564
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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO OMIM NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO OMIM NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
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 blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,746,749...49,758,317
Ensembl chr 9:49,748,693...49,758,479
JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295
JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,925,738...49,958,870
Ensembl chr 9:49,925,755...49,958,300
JBrowse link
G AK8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,470,688...51,598,787
Ensembl chr 9:51,470,756...51,598,786
JBrowse link
G BARHL1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,704,590...51,711,726
Ensembl chr 9:51,703,936...51,712,093
JBrowse link
G BRD3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:50,290,488...50,322,243
Ensembl chr 9:50,288,240...50,322,127
JBrowse link
G C9H9orf116 chromosome 9 C9orf116 homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,207,491...51,209,955
Ensembl chr 9:51,207,493...51,210,257
JBrowse link
G CACFD1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,868,218...49,878,254 JBrowse link
G CASD1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr14:19,975,393...20,026,705
Ensembl chr14:19,977,088...20,025,712
JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,337,205...51,345,284
Ensembl chr 9:51,337,187...51,362,422
JBrowse link
G CFAP77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,721,893...51,852,212
Ensembl chr 9:51,721,839...51,852,453
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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
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 chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO OMIM NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728
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 chr36:30,538,863...30,677,450
Ensembl chr36:30,540,229...30,691,564
JBrowse link
G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130
JBrowse link
G DDX31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,631,608...51,700,747
Ensembl chr 9:51,629,757...51,699,301
JBrowse link
G FAM163B family with sequence similarity 163 member B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,960,093...49,988,263
Ensembl chr 9:49,961,706...49,962,807
JBrowse link
G FCN2 ficolin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:50,868,942...50,876,001
Ensembl chr 9:50,868,973...50,875,792
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203
JBrowse link
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,274,811...51,284,131
Ensembl chr 9:51,274,686...51,284,122
JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,380,697...51,394,679
Ensembl chr 9:51,380,696...51,392,812
JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,638,849...49,649,980
Ensembl chr 9:49,639,072...49,649,399
JBrowse link
G GTF3C4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,602,025...51,630,139
Ensembl chr 9:51,606,235...51,630,637
JBrowse link
G GTF3C5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,347,273...51,362,621
Ensembl chr 9:51,337,187...51,362,422
JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,532,073...49,581,332
Ensembl chr 9:49,532,922...49,593,633
JBrowse link
G LCN9 lipocalin 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,632,813...49,636,854
Ensembl chr 9:49,632,799...49,637,517
JBrowse link
G LOC491264 beta-lactoglobulin-2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,688,619...49,691,690 JBrowse link
G LOC491284 netrin-G2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,994,593...52,004,620 JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr  X:55,487,629...55,508,941
Ensembl chr  X:55,482,013...55,509,992
JBrowse link
G MED22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,777,374...49,783,501 JBrowse link
G MED27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:52,136,652...52,331,676
Ensembl chr 9:52,136,698...52,328,998
JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,211,701...51,214,465
Ensembl chr 9:51,211,627...51,214,475
JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:25741868 NCBI chr 6:28,041,330...28,157,277
Ensembl chr 6:28,041,318...28,262,184
JBrowse link
G MYMK myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,905,580...49,919,849
Ensembl chr 9:49,907,228...49,921,007
JBrowse link
G OBP2B odorant binding protein 2B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,707,505...49,709,999
Ensembl chr 9:49,706,531...49,710,097
JBrowse link
G OLFM1 olfactomedin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:50,972,035...50,996,770
Ensembl chr 9:50,979,146...50,996,602
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
JBrowse link
G PPP1R26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,196,524...51,204,311
Ensembl chr 9:51,199,252...51,202,800
JBrowse link
G RALGDS ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,287,252...51,329,997 JBrowse link
G RAPGEF1 Rap guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:52,429,204...52,566,775
Ensembl chr 9:52,450,597...52,563,778
JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,827,584...49,834,872
Ensembl chr 9:49,828,067...49,836,632
JBrowse link
G RPL7A ribosomal protein L7a ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,783,635...49,786,328
Ensembl chr 9:49,783,635...49,786,328
JBrowse link
G RXRA retinoid X receptor alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:50,525,195...50,575,720
Ensembl chr 9:50,484,567...50,573,119
JBrowse link
G SARDH sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:50,030,397...50,093,556
Ensembl chr 9:50,030,707...50,091,553
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,900,004...51,980,694
Ensembl chr 9:51,901,233...51,978,833
JBrowse link
G SGCE sarcoglycan epsilon ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr14:20,052,778...20,121,252
Ensembl chr14:20,052,776...20,121,193
JBrowse link
G SLC2A10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr24:33,905,099...33,920,604
Ensembl chr24:33,905,203...33,919,454
JBrowse link
G SLC2A6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,878,325...49,885,549
Ensembl chr 9:49,878,634...49,885,696
JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,593,740...49,598,279
Ensembl chr 9:49,593,703...49,599,113
JBrowse link
G SPACA9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,460,359...51,470,612
Ensembl chr 9:51,460,623...51,468,902
JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,807,272...49,827,611
Ensembl chr 9:49,807,250...49,827,567
JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,786,562...49,790,004
Ensembl chr 9:49,786,085...49,790,148
JBrowse link
G SURF2 surfeit 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,790,187...49,794,102
Ensembl chr 9:49,790,186...49,793,623
JBrowse link
G SURF4 surfeit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,793,971...49,806,226
Ensembl chr 9:49,795,890...49,799,319
JBrowse link
G SURF6 surfeit 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,769,338...49,774,136 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 chr11:56,191,383...56,223,042
Ensembl chr11:56,161,772...56,218,594
JBrowse link
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677
JBrowse link
G TTF1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,855,565...51,881,000
Ensembl chr 9:51,855,559...51,878,459
JBrowse link
G UCK1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:52,609,972...52,615,655
Ensembl chr 9:52,609,313...52,614,622
JBrowse link
G VAV2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:50,103,004...50,232,753
Ensembl chr 9:50,094,447...50,230,954
JBrowse link
G WDR5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:50,352,600...50,371,224
Ensembl chr 9:50,352,472...50,371,236
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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
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 chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2
ClinVar Annotator: match by term: Ehlers-Danlos syndrome classic type 2
CTD
ClinVar
PMID:7695699, PMID:8218237, PMID:8752669, PMID:9042913, PMID:10471441, PMID:10602121, PMID:10946364, PMID:11992482, PMID:15580559, PMID:19019335, PMID:19344236, PMID:19370768, PMID:20635400, PMID:20979576, PMID:22696272, PMID:23587214, PMID:24033266, PMID:24951259, PMID:25741868, PMID:26608033, PMID:26854089, PMID:28454995, PMID:28492532, PMID:28550590, PMID:29924831, PMID:30311386, PMID:30858776, PMID:31064749 NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728
JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO OMIM NCBI chr36:30,538,863...30,677,450
Ensembl chr36:30,540,229...30,691,564
JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 ClinVar PMID:25741868 NCBI chr 6:28,041,330...28,157,277
Ensembl chr 6:28,041,318...28,262,184
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 chr12:1,453,227...1,510,171
Ensembl chr12:1,453,260...1,509,749
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
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 chr11:2,279,983...2,504,630
Ensembl chr11:2,280,108...2,502,635
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 chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765
JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277
JBrowse link
G TNXB tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:25326637 NCBI chr12:1,453,227...1,510,171
Ensembl chr12:1,453,260...1,509,749
JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient ClinVar NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO OMIM NCBI chr 2:84,320,529...84,343,562
Ensembl chr 2:84,320,529...84,343,562
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 chr30:7,640,988...7,643,576
Ensembl chr30:7,640,637...7,642,778
JBrowse link
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSE dermatan sulfate epimerase ISO OMIM NCBI chr 1:56,787,809...56,868,037
Ensembl chr 1:56,787,256...56,867,716
JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:56,421,687...56,423,120
Ensembl chr 5:56,405,372...56,422,771
JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 ISO OMIM NCBI chr11:3,497,860...3,507,513
Ensembl chr11:3,498,153...3,505,034
JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 5:56,466,833...56,482,023
Ensembl chr 5:56,468,164...56,481,913
JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 5:56,239,621...56,273,679
Ensembl chr 5:56,239,701...56,272,745
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO OMIM NCBI chr 5:56,421,687...56,423,120
Ensembl chr 5:56,405,372...56,422,771
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 chr11:3,497,860...3,507,513
Ensembl chr11:3,498,153...3,505,034
JBrowse link
G C1QTNF12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 5:56,433,555...56,438,419
Ensembl chr 5:56,433,552...56,438,339
JBrowse link
G C5H1orf159 chromosome 5 C1orf159 homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 5:56,296,633...56,330,358
Ensembl chr 5:56,297,635...56,307,616
JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 5:56,485,690...56,498,074
Ensembl chr 5:56,485,948...56,498,017
JBrowse link
G ISG15 ISG15 ubiquitin like modifier ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 5:56,230,879...56,237,354
Ensembl chr 5:56,236,318...56,404,695
JBrowse link
G MIR200A microRNA mir-200a ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 5:56,369,063...56,369,152
Ensembl chr 5:56,369,061...56,369,151
JBrowse link
G MIR200B microRNA mir-200b ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 5:56,368,400...56,368,479
Ensembl chr 5:56,368,400...56,368,479
JBrowse link
G PUSL1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 5:56,482,802...56,485,778
Ensembl chr 5:56,482,363...56,485,783
JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 5:56,290,548...56,293,473 JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 5:56,455,677...56,466,035
Ensembl chr 5:56,461,939...56,465,595
JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 5:56,407,506...56,421,515
Ensembl chr 5:56,407,807...56,421,430
JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741
JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761
JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 5:56,364,247...56,390,899
Ensembl chr 5:56,336,884...56,388,693
JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 5:56,440,394...56,455,491
Ensembl chr 5:56,441,821...56,455,460
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 chr18:42,221,311...42,229,992
Ensembl chr18:42,222,333...42,227,361
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 chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765
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 chr36:30,538,863...30,677,450
Ensembl chr36:30,540,229...30,691,564
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 chr37:308,054...329,037
Ensembl chr37:303,104...368,865
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 chr37:157,400...191,127
Ensembl chr37:157,455...190,916
JBrowse link
Ehlers-Danlos Syndrome Type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, procollagen proteinase deficient ClinVar PMID:2404284, PMID:8347685 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, procollagen proteinase deficient ClinVar PMID:1867198, PMID:2037280, PMID:2767050, PMID:3082886, PMID:6462220, PMID:6876111, PMID:7691343, PMID:7695699, PMID:7942841, PMID:8079666, PMID:8218237, PMID:8408653, PMID:8613526, PMID:8669434, PMID:8808594, PMID:9016532, PMID:9067755, PMID:9295084, PMID:9443882, PMID:10073586, PMID:10739762, PMID:10931857, PMID:11090261, PMID:11317364, PMID:11432962, PMID:12590186, PMID:13431894, PMID:15024692, PMID:15024745, PMID:15741671, PMID:15864348, PMID:15931785, PMID:16786509, PMID:16879195, PMID:17078022, PMID:17309652, PMID:18028452, PMID:18272325, PMID:18409203, PMID:18412368, PMID:18553566, PMID:18670065, PMID:18704262, PMID:18996919, PMID:19344236, PMID:19358256, PMID:19550437, PMID:20087402, PMID:20696291, PMID:21249479, PMID:21344539, PMID:21567126, PMID:21667357, PMID:21801164, PMID:21884818, PMID:22174522, PMID:22570641, PMID:22589248, PMID:22753364, PMID:23047998, PMID:23522764, PMID:23735642, PMID:24147872, PMID:24389367, PMID:24390061, PMID:24668929, PMID:24715559, PMID:24891183, PMID:24964776, PMID:25086671, PMID:25146735, PMID:25525159, PMID:25741868, PMID:25944380, PMID:25963598, PMID:26177859, PMID:26188975, PMID:26235824, PMID:26467025, PMID:26633542, PMID:27060301, PMID:27132807, PMID:27509835, PMID:27510842, PMID:27748872, PMID:28378289, PMID:28492532, PMID:28668235, PMID:29543232, PMID:29946973 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
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 chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
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 chr27:37,951,137...37,960,687
Ensembl chr27:37,950,246...37,960,557
JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE ClinVar PMID:27745832 NCBI chr27:37,976,196...37,985,846
Ensembl chr27:37,976,197...37,989,575
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 chr27:37,951,137...37,960,687
Ensembl chr27:37,950,246...37,960,557
JBrowse link
G C1S complement C1s ISO OMIM NCBI chr27:37,976,196...37,985,846
Ensembl chr27:37,976,197...37,989,575
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 IEA
ISO
Epidermolysis bullosa, dystrophic
DNA:insertion-deletion
OMIA
RGD
OMIM
PMID:8275094, PMID:8547021, PMID:10886525, PMID:12874109, PMID:16119884, PMID:21697889, PMID:28493971 RGD:1600946 NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G MMP1 matrix metallopeptidase 1 severity ISO DNA:insertion:promoter:g.-1607_-1606insG (human) OMIM
RGD
PMID:18030675 RGD:8549728 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
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 chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
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 chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
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 chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
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 chr10:7,775,995...7,833,895
Ensembl chr10:7,777,946...7,834,107
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 chr21:43,903,422...43,986,778
Ensembl chr21:43,903,537...43,984,822
JBrowse link
Keloid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTRT2 actin related protein T2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 5:57,659,055...57,660,479
Ensembl chr 5:57,659,262...57,660,395
JBrowse link
G AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chr16:58,755,720...58,797,916
Ensembl chr16:58,755,735...58,795,704
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G ARHGDIA Rho GDP dissociation inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:419,350...422,284
Ensembl chr 9:419,413...423,252
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chr16:41,297,215...41,335,521
Ensembl chr16:41,297,809...41,323,078
JBrowse link
G ASPN asporin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:98,881,610...98,905,641
Ensembl chr 1:98,881,690...98,904,945
JBrowse link
G CAPG capping actin protein, gelsolin like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr17:39,619,429...39,640,944
Ensembl chr17:39,619,248...39,640,942
JBrowse link
G CLIC1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr12:1,209,777...1,215,229
Ensembl chr12:1,209,780...1,215,229
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728
JBrowse link
G EIF5A eukaryotic translation initiation factor 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 5:32,268,103...32,272,970 JBrowse link
G FGG fibrinogen gamma chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr15:52,261,215...52,270,077
Ensembl chr15:52,261,217...52,269,964
JBrowse link
G FOXL2 forkhead box L2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chr23:35,145,856...35,147,185 JBrowse link
G FTH1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr18:54,466,167...54,468,733
Ensembl chr18:54,466,023...54,468,732
JBrowse link
G FTL ferritin light chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:107,418,457...107,419,923
Ensembl chr 1:107,418,458...107,419,923
JBrowse link
G LGALS1 galectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr10:26,932,351...26,935,580
Ensembl chr10:26,932,301...26,935,646
JBrowse link
G LOC100049001 tryptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 6:39,505,485...39,506,909 JBrowse link
G MYDGF myeloid derived growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr20:55,084,060...55,096,544
Ensembl chr20:55,084,059...55,096,241
JBrowse link
G MYL6B myosin light chain 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr10:472,415...476,738
Ensembl chr10:472,515...476,719
JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chr30:21,123,333...21,229,907
Ensembl chr30:21,126,043...21,229,870
JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:30311386 NCBI chr 9:48,287,019...48,295,540
Ensembl chr 9:48,287,014...48,294,780
JBrowse link
G PFN1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 5:31,670,483...31,671,891
Ensembl chr 5:31,670,194...31,671,895
JBrowse link
G PRDX1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr15:14,834,009...14,855,665
Ensembl chr15:14,838,652...14,862,971
JBrowse link
G PRDX2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr20:49,352,271...49,356,755
Ensembl chr20:49,352,266...49,356,682
JBrowse link
G RAN RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr26:1,435,077...1,436,893
Ensembl chr26:1,434,720...1,436,993
JBrowse link
G S100A10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr17:60,984,138...60,994,915 JBrowse link
G S100A4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 7:43,494,007...43,496,021 JBrowse link
G S100A8 S100 calcium binding protein A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 7:43,540,667...43,541,604
Ensembl chr 7:43,501,989...43,541,604
JBrowse link
G S100A9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 7:43,566,993...43,570,074 JBrowse link
G SERPINB5 serpin family B member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:13,566,982...13,638,839
Ensembl chr 1:13,568,376...13,638,781
JBrowse link
G SERPINF1 serpin family F member 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:skin of body (human)
CTD
RGD
PMID:20128793 RGD:27226709 NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
JBrowse link
G SFN stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:73,268,289...73,269,663
Ensembl chr 2:73,268,791...73,269,537
JBrowse link
G TAGLN transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 5:16,390,259...16,395,471
Ensembl chr 5:16,390,573...16,397,207
JBrowse link
G TPM1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442
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 chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733
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 chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO RGD PMID:12925209 RGD:8661733 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733 NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:17102953 RGD:12903974 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FASLG Fas ligand ISO RGD PMID:17102953 RGD:12903974 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
G IL2 interleukin 2 susceptibility ISO DNA:polymorphism::-384T>G(human) RGD PMID:17444587 RGD:4142872 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:20808962 RGD:4892610 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997
JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G PGF placental growth factor ISO protein:increased expression:plasma RGD PMID:22461185 RGD:6483571 NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170
JBrowse link
G SERPINE1 serpin family E member 1 ISO mRNA,protein:increased expression:skin: RGD PMID:15730388 RGD:13208597 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G STAT4 signal transducer and activator of transcription 4 no_association
susceptibility
ISO DNA:SNPs:introns: (rs10168266, rs3821236) (human)
DNA:SNP:intron: (rs7574865) (human)
RGD PMID:19286670, PMID:23755762 RGD:8661701, RGD:8661714 NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
localized scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9D2 B9 domain containing 2 ISO RGD PMID:7510487 RGD:7394847 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO mRNA,protein:increased expression:skin: RGD PMID:15803328 RGD:8662838 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15863969 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G HGF hepatocyte growth factor treatment ISO RGD PMID:14712301 RGD:8548627 NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:7916356 RGD:8158116 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IL13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12920362 RGD:8549537 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
JBrowse link
G LMNA lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15726408 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:9804345 RGD:1582543 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9843018 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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 chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FBN1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain ISO DNA:polymorphism:cds:HLA-DRB1*04 (human) RGD PMID:12559632 RGD:5147801 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IFNG interferon gamma ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 ISO RGD PMID:2968364 RGD:10448928 NCBI chr24:18,673,975...18,683,315
Ensembl chr24:18,674,039...18,683,229
JBrowse link
G SNRPC small nuclear ribonucleoprotein polypeptide C ISO associated with Hypertension, Pulmonary RGD PMID:10555891 RGD:10766447 NCBI chr12:3,996,483...4,010,904
Ensembl chr12:3,996,520...4,010,889
JBrowse link
G TLR3 toll like receptor 3 ISO RGD PMID:16453294 RGD:5129221 NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
occipital horn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha ISO OMIM NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869
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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
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 chr25:35,043,594...35,087,282
Ensembl chr25:35,020,751...35,087,545
JBrowse link
G COL1A1 collagen type I alpha 1 chain severity ISO DNA:transition mutation:splice junction:
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein disease
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar Annotator: match by term: Lobstein's Disease
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
DNA:mutations:exons: c.97G > A,c.1209T > A,c.3702C > T(human)
CTD Direct Evidence: marker/mechanism
DNA:snp:intron:c.3207+1G>A (human)
DNA:mutation:splice junction:c.1875+1G>A (IVS 27+1G>A)(human)
DNA:deletion: :
DNA:mutation:exon:c.3235G>A(p.G1079S)(human)
DNA:transversion mutation:intron:
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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL1A2 collagen type I alpha 2 chain IEA Osteogenesis imperfecta, COL1A2-related OMIA PMID:11393792, PMID:29036614 NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
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 chr23:3,694,695...3,723,119
Ensembl chr23:3,698,407...3,722,800
JBrowse link
G FKBP10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr 9:21,001,227...21,009,995
Ensembl chr 9:21,001,577...21,009,927
JBrowse link
G LRP5 LDL receptor related protein 5 treatment ISO RGD PMID:24677211 RGD:12792279 NCBI chr18:49,439,494...49,555,375
Ensembl chr18:49,439,483...49,516,396
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 chr15:603,436...621,839
Ensembl chr15:603,329...621,568
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 chr30:28,654,193...28,660,129
Ensembl chr30:28,654,200...28,788,801
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 chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
JBrowse link
G SERPINH1 serpin family H member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr21:23,032,761...23,041,649
Ensembl chr21:23,032,767...23,041,625
JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:24033266, PMID:25741868 NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457
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 chr30:28,650,854...28,655,780
Ensembl chr30:28,650,948...28,653,799
JBrowse link
G SP7 Sp7 transcription factor ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr27:1,878,612...1,887,063
Ensembl chr27:1,880,424...1,887,679
JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:1793673 NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711
JBrowse link
G WNT1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 NCBI chr27:5,588,151...5,592,254
Ensembl chr27:5,574,940...5,592,060
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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
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 chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
JBrowse link
G ITGA3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr 9:26,065,792...26,095,649
Ensembl chr 9:26,062,393...26,094,422
JBrowse link
G PDK2 pyruvate dehydrogenase kinase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr 9:26,099,457...26,116,094
Ensembl chr 9:26,100,343...26,115,423
JBrowse link
G PPP1R9B protein phosphatase 1 regulatory subunit 9B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr 9:26,135,982...26,152,303
Ensembl chr 9:26,137,464...26,151,810
JBrowse link
G SAMD14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr 9:26,116,362...26,131,975
Ensembl chr 9:26,117,707...26,132,132
JBrowse link
G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr 9:26,164,784...26,178,249
Ensembl chr 9:26,164,863...26,174,864
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 IEA
ISO
Osteogenesis imperfecta, SERPINH1-related OMIA
OMIM
PMID:12949410, PMID:19629171, PMID:22847422, PMID:23315765, PMID:23525816, PMID:23525818, PMID:26004778 NCBI chr21:23,032,761...23,041,649
Ensembl chr21:23,032,767...23,041,625
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 chr 9:21,001,227...21,009,995
Ensembl chr 9:21,001,577...21,009,927
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: Osteogenesis imperfecta, type XII
ClinVar Annotator: match by term: OI, TYPE XII
ClinVar PMID:20362275, PMID:20839288, PMID:21567934, PMID:22107750, PMID:22949511, PMID:25741868 NCBI chr 9:21,001,227...21,009,995
Ensembl chr 9:21,001,577...21,009,927
JBrowse link
G SP7 Sp7 transcription factor ISO OMIM NCBI chr27:1,878,612...1,887,063
Ensembl chr27:1,880,424...1,887,679
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 chr25:35,043,594...35,087,282
Ensembl chr25:35,020,751...35,087,545
JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: OI, TYPE XIII ClinVar NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457
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 chr11:61,511,756...61,561,987
Ensembl chr11:61,511,750...61,560,556
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 chr27:5,588,151...5,592,254
Ensembl chr27:5,574,940...5,592,060
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 chr18:43,138,779...43,173,535
Ensembl chr18:43,139,453...43,173,420
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 chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711
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 chr12:42,270,029...42,277,905
Ensembl chr12:42,274,000...42,277,513
JBrowse link
osteogenesis imperfecta type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO OMIM NCBI chr  X:17,655,295...17,718,960
Ensembl chr  X:17,655,363...17,710,288
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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO OMIM NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
JBrowse link
osteogenesis imperfecta type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MESD mesoderm development LRP chaperone ISO OMIM NCBI chr 3:56,698,417...56,709,632
Ensembl chr 3:56,705,479...56,709,536
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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
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 chr25:35,043,594...35,087,282
Ensembl chr25:35,020,751...35,087,545
JBrowse link
G COL11A1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 6:47,425,387...47,622,189
Ensembl chr 6:47,425,307...47,621,012
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO
IEA
Osteogenesis imperfecta, type III, COL1A1-related OMIM
OMIA
PMID:11147834 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO OMIM NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr36:30,538,863...30,677,450
Ensembl chr36:30,540,229...30,691,564
JBrowse link
G FKBP10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 9:21,001,227...21,009,995
Ensembl chr 9:21,001,577...21,009,927
JBrowse link
G P3H1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr15:603,436...621,839
Ensembl chr15:603,329...621,568
JBrowse link
G SERPINF1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
JBrowse link
G WNT1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr27:5,588,151...5,592,254
Ensembl chr27:5,574,940...5,592,060
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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO OMIM NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
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 chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
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 chr23:3,694,695...3,723,119
Ensembl chr23:3,698,407...3,722,800
JBrowse link
G GLB1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr23:3,733,979...3,735,884 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 chr15:603,436...621,839
Ensembl chr15:603,329...621,568
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 chr30:28,654,193...28,660,129
Ensembl chr30:28,654,200...28,788,801
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 chr30:28,650,854...28,655,780
Ensembl chr30:28,650,948...28,653,799
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 chr18:49,439,494...49,555,375
Ensembl chr18:49,439,483...49,516,396
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 chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765
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 chr29:15,831,944...15,840,560
Ensembl chr29:15,831,944...15,834,384
JBrowse link
G CRP C-reactive protein treatment ISO RGD PMID:2859021 RGD:9495925 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G HFE homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30657865 RGD:14746966 NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413
JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) ISO RGD PMID:11796404 RGD:7241254 NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222
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 chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778
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 chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
JBrowse link
Progressive Renal Failure with Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRSP-3 calcitonin receptor-stimulating peptide 3 ISO RGD PMID:15928032 RGD:7204486 NCBI chr21:37,676,841...37,680,643
Ensembl chr21:37,676,841...37,680,645
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 chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
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 chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606
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 chr30:29,573,072...29,587,601
Ensembl chr30:29,573,184...29,650,883
JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Scleroderma ClinVar PMID:25741868, PMID:28492532 NCBI chr18:42,221,311...42,229,992
Ensembl chr18:42,222,333...42,227,361
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 chr32:17,089,514...17,167,917
Ensembl chr32:17,090,293...17,166,648
JBrowse link
systemic scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO protein:decreased expression:plasma RGD PMID:17360781 RGD:8548889 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753
JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO protein:decreased expression:plasma (human) RGD PMID:12935979 RGD:10449040 NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO protein:increased expression:serum RGD PMID:18825489 RGD:8695973 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
JBrowse link
G AGT angiotensinogen ISO protein:decreased expression:plasma RGD PMID:17360781 RGD:8548889 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G ANXA5 annexin A5 severity ISO RGD PMID:21124692 RGD:7242029 NCBI chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378
JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 ISO protein:increased expression:saliva (human) RGD PMID:17722226 RGD:11049167 NCBI chr37:24,914,389...24,935,998
Ensembl chr37:24,914,642...24,935,824
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 chr32:23,322,654...23,603,233
Ensembl chr32:23,323,122...23,602,383
JBrowse link
G BDNF brain derived neurotrophic factor ISO protein:decreased expression:serum: RGD PMID:21085492 RGD:5144060 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G C3 complement C3 ISO protein:increased expression:plasma RGD PMID:2803327 RGD:7421518 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
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 chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935
JBrowse link
G CCL2 C-C motif chemokine ligand 2 severity ISO protein:increased expression:serum
protein:increased expression:respiratory system fluid/secretion
RGD PMID:19615053, PMID:21049277, PMID:21285114 RGD:4891453, RGD:5135284, RGD:5683876 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO mRNA:increased expression:skin RGD PMID:21742595 RGD:7483587 NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
JBrowse link
G CCL4 chemokine (C-C motif) ligand 4 ISO protein:increased expression:serum RGD PMID:21285114 RGD:5683876 NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209
JBrowse link
G CCN1 cellular communication network factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr 6:62,443,285...62,446,246
Ensembl chr 6:62,443,675...62,445,994
JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:23142052 RGD:9479741 NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
JBrowse link
G CCR6 C-C motif chemokine receptor 6 ISO mRNA:increased expression:skin RGD PMID:21742595 RGD:7483587 NCBI chr 1:54,932,798...54,960,646
Ensembl chr 1:54,932,690...54,959,740
JBrowse link
G CD247 CD247 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr 7:30,961,169...30,972,143 JBrowse link
G CD86 CD86 molecule ISO DNA:snp:5' utr:g.-3479T>G (human) RGD PMID:16790753 RGD:4892554 NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
JBrowse link
G CFB complement factor B ISO protein:increased expression:plasma RGD PMID:2803327 RGD:7421518 NCBI chr12:1,400,143...1,406,267 JBrowse link
G CHI3L1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:16195162 RGD:4892666 NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427
JBrowse link
G CLU clusterin ISO protein:increased expression:serum RGD PMID:22350181 RGD:8898558 NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO RGD PMID:1697606 RGD:5688336 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
JBrowse link
G CSF1 colony stimulating factor 1 ISO mRNA:increased expression:skin RGD PMID:22700848 RGD:7257593 NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371
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 chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808
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 chr32:598,406...599,925
Ensembl chr32:597,987...599,979
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 chr 5:31,816,889...31,820,975
Ensembl chr 5:31,816,667...31,820,840
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO protein:decreased expression:skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr  X:55,882,433...55,884,582
Ensembl chr  X:55,882,433...55,884,582
JBrowse link
G CXCR6 C-X-C motif chemokine receptor 6 ISO protein:increased expression:skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr20:42,565,251...42,569,647
Ensembl chr20:42,565,251...42,566,276
JBrowse link
G EDN1 endothelin 1 ISO protein:increased secretion:plasma (human) RGD PMID:7653485 RGD:4145072 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
JBrowse link
G ELN elastin ISO RGD PMID:22563211 RGD:9585742 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325
JBrowse link
G ESR1 estrogen receptor 1 susceptibility ISO DNA:SNP:intron: RGD PMID:19032828 RGD:8553058 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G ESR2 estrogen receptor 2 no_association ISO DNA:SNP:exon: RGD PMID:19032828 RGD:8553058 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
JBrowse link
G F11R F11 receptor ISO RGD PMID:19153103 RGD:7488918 NCBI chr38:21,433,819...21,456,722
Ensembl chr38:21,451,952...21,454,959
JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma: RGD PMID:9374919 RGD:11565087 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
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 chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO protein:increased expression:skin: RGD PMID:21865112 RGD:8552335 NCBI chr11:1,145,643...1,184,097
Ensembl chr11:1,145,585...1,185,165
JBrowse link
G FSTL1 follistatin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr33:23,892,317...23,914,406
Ensembl chr33:23,894,573...23,933,779
JBrowse link
G HDAC5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr 9:19,261,075...19,297,669
Ensembl chr 9:19,260,893...19,297,623
JBrowse link
G HGF hepatocyte growth factor severity
treatment
ISO mRNA:increased expression:skin:
protein:increased expression:serum:
RGD PMID:17049072, PMID:22286923, PMID:24387171 RGD:8548624, RGD:8548651, RGD:8548659 NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
JBrowse link
G HMGB1 high mobility group box 1 ISO protein:increased expression:serum RGD PMID:18825489 RGD:8695973 NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165
JBrowse link
G HNRNPL heterogeneous nuclear ribonucleoprotein L ISO RGD PMID:21569507 RGD:9999440 NCBI chr 1:114,267,195...114,279,107
Ensembl chr 1:114,267,210...114,278,837
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 chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IFNG interferon gamma treatment ISO RGD PMID:1418004 RGD:8157622 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:increased expression:serum: RGD PMID:19004037 RGD:12743606 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
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 chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
JBrowse link
G IL13RA1 interleukin 13 receptor subunit alpha 1 no_association ISO DNA:SNP:intron:43163G>A (rs6646259) (human) RGD PMID:22045834 RGD:8549502 NCBI chr  X:90,925,497...90,981,855
Ensembl chr  X:90,924,801...90,979,963
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 chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
JBrowse link
G IL1B interleukin 1 beta susceptibility ISO DNA:polymorphisms:promoter:-31T>C,-511C>T (human) RGD PMID:17444587 RGD:4142872 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO RGD PMID:1375465 RGD:8662902 NCBI chr10:40,825,986...40,897,898
Ensembl chr10:40,827,377...40,897,596
JBrowse link
G IL2 interleukin 2 ISO protein:increased expression:serum: RGD PMID:2213757 RGD:8663482 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL23R interleukin 23 receptor no_association ISO DNA:SNPs: :rs11209032,rs1495965(human)
DNA:SNPs: :rs11209026, rs11465804 (human)
RGD PMID:18713787, PMID:19918037 RGD:5096624, RGD:8549603 NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474
JBrowse link
G IL27 interleukin 27 ISO protein:increased expression:serum RGD PMID:20705635 RGD:5128477 NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635
JBrowse link
G IL27RA interleukin 27 receptor subunit alpha ISO mRNA:increased expression:skin RGD PMID:20705635 RGD:5128477 NCBI chr20:48,456,766...48,475,414
Ensembl chr20:48,457,134...48,472,450
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 chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:23406616 RGD:12792238 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G IRF5 interferon regulatory factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr14:7,724,168...7,734,976
Ensembl chr14:7,724,780...7,742,795
JBrowse link
G JAM3 junctional adhesion molecule 3 ISO protein:decreased expression:skin, endothelial cell
protein:increased expression:skin
RGD PMID:19439502, PMID:23001478 RGD:7488920, RGD:7488937 NCBI chr 5:1,082,619...1,165,188
Ensembl chr 5:1,084,560...1,165,121
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 chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr12:2,244,820...2,250,822
Ensembl chr12:2,244,820...2,251,662
JBrowse link
G LTA lymphotoxin alpha susceptibility ISO DNA:SNP:intron:252A>G (human) RGD PMID:10600011 RGD:8548796 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
JBrowse link
G MMP1 matrix metallopeptidase 1 severity ISO mRNA:decreased expression:skin
protein:increased expression:serum
RGD PMID:12051403, PMID:22286923 RGD:8548651, RGD:8693663 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) severity ISO protein:increased expression:serum RGD PMID:12051403, PMID:15498049 RGD:8693663, RGD:8693674 NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:15642145 RGD:1580577 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MUC1 mucin 1, cell surface associated ISO protein:increased expression:serum RGD PMID:19286849 RGD:4143496 NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690
JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr 1:110,543,140...110,569,168
Ensembl chr 1:110,543,247...110,569,143
JBrowse link
G NGF nerve growth factor ISO protein:increased expression:serum RGD PMID:21085492 RGD:5144060 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
JBrowse link
G NOTCH4 notch receptor 4 ISO DNA: SNPs: non-coding :multiple RGD PMID:21779181 RGD:6480691 NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:superficial vasculature (human) RGD PMID:20228226 RGD:11541095 NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21979415 RGD:5508306 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA:missense mutation:cds:p.R620W (rs2476601) (human)
DNA: snp: cds: rs2476601
RGD PMID:16464986, PMID:21131644 RGD:6484551, RGD:7829741 NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
JBrowse link
G RHOB ras homolog family member B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21750679 NCBI chr17:15,438,744...15,439,793
Ensembl chr17:15,439,143...15,441,136
JBrowse link
G S1PR5 sphingosine-1-phosphate receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29033951 NCBI chr20:50,641,585...50,646,938
Ensembl chr20:50,643,619...50,644,815
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:dermis,microvessel: RGD PMID:26414805 RGD:11343779 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G SERPINF2 serpin family F member 2 ISO protein:increased expression:plasma RGD PMID:12595617 RGD:1625530 NCBI chr 9:45,876,076...45,883,777
Ensembl chr 9:45,877,495...45,883,036
JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:25707573 NCBI chr 4:19,188,616...19,220,031
Ensembl chr 4:19,188,675...19,218,279
JBrowse link
G SIRT7 sirtuin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25707573 NCBI chr 9:377,141...383,355
Ensembl chr 9:376,445...442,919
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:repeat, polymorphism:promoter, intron: (human) RGD PMID:17876529 RGD:5684940 NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282
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 chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21750679 NCBI chr 4:58,150,734...58,200,158
Ensembl chr 4:58,149,882...58,199,644
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:skin
protein:increased expression:bone marrow:
protein:increased expression:serum:
mRNA,protein:increased expression:skin:
RGD PMID:16426919, PMID:21636803, PMID:22271757, PMID:24387171 RGD:5684416, RGD:7421579, RGD:8548659, RGD:8551843 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G VWF von Willebrand factor severity ISO RGD PMID:22596213 RGD:7205639 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142
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 chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
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 chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765
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 chr38:20,002,984...20,152,930
Ensembl chr38:20,008,057...20,152,275
JBrowse link
X-linked Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATG4A autophagy related 4A cysteine peptidase ISO ClinVar Annotator: match by term: NEPHROPATHY AND DEAFNESS, X-LINKED ClinVar NCBI chr  X:81,629,346...81,688,086
Ensembl chr  X:81,629,465...81,688,099
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 chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189
JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO
IEA
Nephritis, X-linked OMIM
OMIA
PMID:884645, PMID:1928300, PMID:2072666, PMID:2437692, PMID:3124348, PMID:3453267, PMID:3550289, PMID:3651895, PMID:3711721, PMID:4028523, PMID:6742105, PMID:7210449, PMID:8171024, PMID:8662866, PMID:9127294, PMID:9447482, PMID:10188823, PMID:11549602, PMID:12595505, PMID:12598321, PMID:12879362, PMID:15782307, PMID:16221211, PMID:18931484, PMID:23464675, PMID:27959966 NCBI chr  X:81,982,119...82,248,428
Ensembl chr  X:81,982,275...82,247,679
JBrowse link
G COL4A6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: NEPHROPATHY AND DEAFNESS, X-LINKED
ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar PMID:9195222, PMID:11223851, PMID:18584212, PMID:19444485, PMID:21380622 NCBI chr  X:81,690,047...81,981,005
Ensembl chr  X:81,691,417...81,980,703
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 chr16:39,434,948...39,513,727
Ensembl chr16:39,436,753...39,527,438
JBrowse link
X-linked cardiac valvular dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO OMIM NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12699
    disease of anatomical entity 12239
      Skin and Connective Tissue Diseases 4822
        connective tissue disease 3605
          collagen disease 285
            Alport syndrome + 13
            Cardiomyopathy Hypogonadism Collagenoma Syndrome 0
            Collagenosis, Familial Reactive Perforating 0
            Ehlers-Danlos syndrome + 100
            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 8
            osteogenesis imperfecta + 33
            polymyalgia rheumatica 6
            scleroderma + 107
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.