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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
DNA:deletion, nonsense mutations
CTD
ClinVar
RGD
PMID:7987301, PMID:11134255, PMID:12028435, PMID:12631109, PMID:14582039, PMID:14871398, PMID:15880327, PMID:15954103, PMID:17216251, PMID:18385178, PMID:19525337, PMID:20847057, PMID:21862460, PMID:22887978, PMID:23967202, PMID:24033266, PMID:24052634, PMID:24854265, PMID:25229338, PMID:25307543, PMID:25407002, PMID:25514610, PMID:25596306, PMID:25741868, PMID:25888712, PMID:26346198, PMID:26467025, PMID:26795916, PMID:26809805, PMID:26934356, PMID:27391953, PMID:27627812, PMID:27859054, PMID:28492532, PMID:28632965 RGD:1600924 NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021
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 chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892
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:97,538,978...97,797,019
Ensembl chr  X:108,008,689...108,166,095
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762
JBrowse link
G MMP3 matrix metallopeptidase 3 ISO protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
JBrowse link
G MYH9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
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:97,254,306...97,539,473
Ensembl chr  X:107,625,718...107,908,363
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 chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021
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 chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892
JBrowse link
G MYH9 myosin heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
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 chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
JBrowse link
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:7520042, PMID:8807337, PMID:25741868, PMID:30311386 NCBI chr12:36,243,221...36,249,573
Ensembl chr12:37,021,432...37,025,105
JBrowse link
autosomal recessive Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:15716328 RGD:5688157 NCBI chr 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755
JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO OMIM NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021
JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO OMIM NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892
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 chr15:19,407,477...19,409,645
Ensembl chr15:37,660,621...37,661,622
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 chr 4:112,896,606...113,127,400
Ensembl chr 4:124,036,911...124,252,928
JBrowse link
G ZNF469 zinc finger protein 469 ISO OMIM NCBI chr16:68,777,496...69,151,995
Ensembl chr16:88,803,202...88,815,390
JBrowse link
brittle cornea syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRDM5 PR/SET domain 5 ISO OMIM NCBI chr 4:112,896,606...113,127,400
Ensembl chr 4:124,036,911...124,252,928
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 chr17:15,490,667...15,500,894
Ensembl chr17:15,709,629...15,718,953
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 chr17:15,490,667...15,500,894
Ensembl chr17:15,709,629...15,718,953
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 chr 3:143,091,833...143,181,831
Ensembl chr 3:150,675,424...150,764,939
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 chr17:76,248,252...76,266,152
Ensembl chr17:81,950,422...81,968,109
JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:110,916,508...111,033,298
Ensembl chr 4:121,468,914...121,582,156
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 chr17:76,248,252...76,266,152
Ensembl chr17:81,950,422...81,968,109
JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SEC24D SEC24 homolog D, COPII coat complex component ISO OMIM NCBI chr 4:110,916,508...111,033,298
Ensembl chr 4:121,468,914...121,582,156
JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPC centromere protein C ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr 4:56,503,353...56,615,246
Ensembl chr 4:62,895,561...62,968,383
JBrowse link
G FBN1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
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 chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
JBrowse link
G AGT angiotensinogen ISO protein:increased expression:serum RGD PMID:14730619 RGD:8548886 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNPs: :rs10516487,rs17266594,rs3733197(human) RGD PMID:19815934 RGD:9684975 NCBI chr 4:94,216,751...94,507,965
Ensembl chr 4:104,813,791...105,171,527
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 chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 ISO RGD PMID:18432520 RGD:5135258 NCBI chr 4:50,192,665...50,195,642
Ensembl chr 4:56,024,848...56,027,989
JBrowse link
G FCGR2A Fc fragment of IgG receptor IIa ISO RGD PMID:8254199 RGD:5147984 NCBI chr 1:136,892,311...136,906,450 JBrowse link
G IL10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9034992 RGD:5684371 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL13 interleukin 13 ISO DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) RGD PMID:16832637 RGD:5684369 NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:20338043 RGD:12792275 NCBI chr 7:23,415,922...23,420,767 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:143,560,802...143,570,185
Ensembl chr  X:153,446,827...153,460,602
JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G STAT4 signal transducer and activator of transcription 4 no_association
susceptibility
ISO DNA:SNP:intron: (rs3821236) (human)
DNA:SNP:intron: (rs7574865) (human)
DNA:SNP:introns: (rs7574865, rs10168266) (human)
RGD PMID:19286670, PMID:23755762 RGD:8661701, RGD:8661714 NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750
JBrowse link
G TLR2 toll like receptor 2 disease_progression ISO DNA:polymorphism:cds:p.P631H(rs5743704)(human) RGD PMID:21905008 RGD:8553044 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G WRN WRN RecQ like helicase ISO RGD PMID:16906373 RGD:10042980 NCBI chr 8:30,353,643...30,492,978
Ensembl chr 8:27,541,145...27,679,855
JBrowse link
Ehlers-Danlos syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 susceptibility ISO RGD PMID:10417273 RGD:1598739 NCBI chr 5:174,264,811...174,502,817
Ensembl chr 5:181,557,928...181,786,175
JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 susceptibility ISO DNA:transition:exon;808C>T RGD PMID:10473568 RGD:1599433 NCBI chr 5:172,905,749...172,915,970
Ensembl chr 5:179,965,928...179,976,158
JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar NCBI chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO DNA:transition mutation:splice junction: RGD PMID:24443344 RGD:11571617 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO RGD PMID:15077201 RGD:1581198 NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
DNA:deletion:exon
DNA:mutations:multiple (human)
DNA:deletion:promoter, exons, introns
CTD
ClinVar
RGD
PMID:1370809, PMID:2049575, PMID:10706896, PMID:16012458, PMID:21071432, PMID:21086191, PMID:24033266, PMID:25637381, PMID:25741868, PMID:25758994, PMID:25846194, PMID:27011056, PMID:27964749, PMID:28492532, PMID:28748566, PMID:30374176 RGD:11041599, RGD:11041602, RGD:1300381, RGD:7257554 NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome
DNA:repeat:intron:IVS17 (human)
RGD
ClinVar
PMID:8752669, PMID:10777716, PMID:11278977, PMID:12145749 RGD:1581210, RGD:1581211, RGD:1581212, RGD:734808 NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651
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 chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 NCBI chr  X:143,799,088...143,825,282 JBrowse link
G LOC100992963 tenascin-X ISO RGD PMID:11642233 RGD:1599494 NCBI chr 6:31,687,994...31,756,279 JBrowse link
G LOX lysyl oxidase ISO RGD PMID:8638917 RGD:1581895 NCBI chr 5:117,450,833...117,464,957
Ensembl chr 5:123,234,662...123,248,717
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 1:10,684,608...10,725,376
Ensembl chr 1:11,900,881...11,941,308
JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G74D (human)
CTD
RGD
PMID:18985159 RGD:11553861 NCBI chr11:47,356,465...47,364,710
Ensembl chr11:47,910,551...47,918,014
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:increased expression:plasma: RGD PMID:24399159 RGD:11073604 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type ClinVar NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
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 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651
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 chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237
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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO OMIM NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO OMIM NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
JBrowse link
Ehlers-Danlos syndrome classic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324
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 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707
JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:104,658,540...104,698,854
Ensembl chr 9:133,269,369...133,309,602
JBrowse link
G AK8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:103,842,850...103,995,331
Ensembl chr 9:132,473,495...132,625,313
JBrowse link
G BARHL1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:103,698,024...103,709,834
Ensembl chr 9:132,331,770...132,338,661
JBrowse link
G BRD3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:105,151,354...105,189,754
Ensembl chr 9:133,759,111...133,782,419
JBrowse link
G C9H9orf116 chromosome 9 C9orf116 homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:106,635,911...106,641,274
Ensembl chr 9:135,628,471...135,633,837
JBrowse link
G C9H9orf62 chromosome 9 C9orf62 homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:106,481,811...106,482,817 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 9:104,582,983...104,593,960
Ensembl chr 9:133,194,490...133,205,686
JBrowse link
G CASD1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 7:86,459,449...86,520,559
Ensembl chr 7:100,053,248...100,096,887
JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:104,180,310...104,191,434
Ensembl chr 9:132,810,986...132,821,010
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 9:103,528,991...103,690,634
Ensembl chr 9:132,162,008...132,322,666
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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar PMID:458828, PMID:1978725, PMID:1990009, PMID:2010058, PMID:2454224, PMID:2824475, PMID:2985635, PMID:2993307, PMID:3372533, PMID:3680255, PMID:6092353, PMID:6773953, PMID:7693712, PMID:7695699, PMID:7749416, PMID:7860070, PMID:7891382, PMID:8071956, PMID:8081389, PMID:8094076, PMID:8218237, PMID:8829649, PMID:9016532, PMID:9099837, PMID:9272740, PMID:9295084, PMID:9399846, PMID:9557891, PMID:9594376, PMID:9923651, PMID:10027910, PMID:11288717, PMID:11317364, PMID:11359465, PMID:15077201, PMID:15172002, PMID:15241796, PMID:16705691, PMID:16786509, PMID:16816023, PMID:16879195, PMID:17078022, PMID:18028452, PMID:18311573, PMID:18996919, PMID:19344236, PMID:19594296, PMID:21344539, PMID:21520333, PMID:21667357, PMID:21801164, PMID:21912751, PMID:22206639, PMID:22589248, PMID:22753364, PMID:23548243, PMID:23692737, PMID:23934635, PMID:24033266, PMID:24140640, PMID:24342908, PMID:24501682, PMID:24668929, PMID:25146735, PMID:25289482, PMID:25326637, PMID:25450603, PMID:25741868, PMID:25835785, PMID:25944380, PMID:26138843, PMID:26177859, PMID:26371943, PMID:26402641, PMID:26432670, PMID:26467025, PMID:26471105, PMID:26551090, PMID:26604951, PMID:26627451, PMID:27056980, PMID:27509835, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28378289, PMID:28492532, PMID:28498836, PMID:28625337, PMID:28725987, PMID:28810924, PMID:28916840, PMID:29595812, PMID:29807018, PMID:30311386, PMID:30715774 NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO OMIM NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651
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 chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237
JBrowse link
G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697
JBrowse link
G DDX31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:103,665,553...103,787,705
Ensembl chr 9:132,341,965...132,418,713
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 9:104,700,420...104,734,748
Ensembl chr 9:133,311,168...133,343,841
JBrowse link
G FCN1 ficolin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:106,039,315...106,047,648 JBrowse link
G FCN2 ficolin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:105,995,807...106,020,389
Ensembl chr 9:134,997,038...135,018,992
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr  X:143,799,088...143,825,282 JBrowse link
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:104,273,080...104,284,268
Ensembl chr 9:132,889,064...132,897,832
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 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326
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 9:106,714,367...106,717,245
Ensembl chr 9:135,705,743...135,708,268
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 9:103,787,645...103,812,319
Ensembl chr 9:132,418,653...132,437,082
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 9:104,150,392...104,178,242
Ensembl chr 9:132,779,664...132,807,518
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 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482
JBrowse link
G LCN1 lipocalin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:106,662,265...106,667,575
Ensembl chr 9:135,654,722...135,659,869
JBrowse link
G LOC100983451 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904
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:60,386,820...60,410,730
Ensembl chr  X:70,443,667...70,466,942
JBrowse link
G MED22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:104,464,103...104,471,294
Ensembl chr 9:133,074,826...133,082,071
JBrowse link
G MED27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:102,982,174...103,199,512
Ensembl chr 9:131,619,441...131,835,951
JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:106,640,673...106,645,374
Ensembl chr 9:135,633,900...135,637,926
JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:25741868 Ensembl chr16:16,007,168...16,091,058 JBrowse link
G MYMK myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:104,638,011...104,668,204
Ensembl chr 9:133,248,761...133,259,631
JBrowse link
G NTNG2 netrin G2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:103,281,915...103,362,786
Ensembl chr 9:131,917,760...131,998,107
JBrowse link
G OBP2B odorant binding protein 2B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:104,291,500...104,331,592
Ensembl chr 9:132,939,353...132,943,117
JBrowse link
G OLFM1 olfactomedin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:106,206,133...106,253,386
Ensembl chr 9:135,205,710...135,252,598
JBrowse link
G PAEP progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:106,669,550...106,681,918 JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
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 9:106,620,368...106,629,655 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 9:104,218,338...104,269,322 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 9:102,698,970...102,861,482
Ensembl chr 9:131,337,001...131,495,664
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 9:104,528,838...104,540,813
Ensembl chr 9:133,140,392...133,152,413
JBrowse link
G RPL7A ribosomal protein L7a ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:104,471,317...104,474,619
Ensembl chr 9:133,082,079...133,085,340
JBrowse link
G RXRA retinoid X receptor alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704
JBrowse link
G SARDH sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:104,786,774...104,864,480
Ensembl chr 9:133,398,806...133,473,642
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
JBrowse link
G SGCE sarcoglycan epsilon ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 7:86,535,215...86,606,114 JBrowse link
G SLC2A10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr20:43,043,801...43,068,304
Ensembl chr20:44,128,837...44,153,148
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 9:104,589,227...104,602,769
Ensembl chr 9:133,205,995...133,214,051
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 9:106,765,101...106,786,836
Ensembl chr 9:135,755,100...135,761,228
JBrowse link
G SPACA9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:103,994,592...104,006,390
Ensembl chr 9:132,625,393...132,636,686
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 9:104,499,706...104,528,872
Ensembl chr 9:133,111,802...133,140,430
JBrowse link
G SURF2 surfeit 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:104,479,741...104,484,493
Ensembl chr 9:133,091,321...133,096,054
JBrowse link
G SURF4 surfeit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:104,484,792...104,499,508
Ensembl chr 9:133,096,353...133,103,007
JBrowse link
G SURF6 surfeit 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:104,453,832...104,459,589
Ensembl chr 9:133,064,755...133,070,302
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:30675029 NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748
JBrowse link
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759
JBrowse link
G TTF1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:103,495,737...103,525,775
Ensembl chr 9:132,129,318...132,158,660
JBrowse link
G UCK1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:102,646,056...102,653,525
Ensembl chr 9:131,285,877...131,293,338
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 9:104,883,197...105,115,143
Ensembl chr 9:133,494,481...133,668,036
JBrowse link
G WDR5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:105,241,415...105,265,925
Ensembl chr 9:133,848,185...133,872,889
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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 ClinVar PMID:2993307, PMID:3372533, PMID:6092353, PMID:7695699, PMID:7860070, PMID:8094076, PMID:8218237, PMID:8829649, PMID:9016532, PMID:9272740, PMID:9594376, PMID:11288717, PMID:15077201, PMID:15241796, PMID:16705691, PMID:16816023, PMID:17078022, PMID:19344236, PMID:21520333, PMID:21667357, PMID:22206639, PMID:22589248, PMID:23692737, PMID:24501682, PMID:25326637, PMID:25450603, PMID:25741868, PMID:25944380, PMID:26138843, PMID:26177859, PMID:26604951, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28492532, PMID:28498836, PMID:28810924, PMID:29595812, PMID:30311386 NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
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 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651
JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO OMIM NCBI chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237
JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 ClinVar PMID:25741868 Ensembl chr16:16,007,168...16,091,058 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 LOC100992963 tenascin-X ISO OMIM NCBI chr 6:31,687,994...31,756,279 JBrowse link
Ehlers-Danlos syndrome classic-like 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AEBP1 AE binding protein 1 ISO OMIM NCBI chr 7:44,818,620...44,828,914
Ensembl chr 7:44,886,238...44,896,194
JBrowse link
Ehlers-Danlos syndrome dermatosparaxis type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 ISO OMIM NCBI chr 5:174,264,811...174,502,817
Ensembl chr 5:181,557,928...181,786,175
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 chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
JBrowse link
G LOC100992963 tenascin-X ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:25326637 NCBI chr 6:31,687,994...31,756,279 JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
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 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO OMIM NCBI chr 1:10,684,608...10,725,376
Ensembl chr 1:11,900,881...11,941,308
JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKBP14 FKBP prolyl isomerase 14 ISO OMIM NCBI chr 7:30,641,413...30,656,507
Ensembl chr 7:30,758,165...30,772,640
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 chr15:19,407,477...19,409,645
Ensembl chr15:37,660,621...37,661,622
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 6:114,173,641...114,246,129 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
G B4GALT7 beta-1,4-galactosyltransferase 7 ISO OMIM NCBI chr 5:172,905,749...172,915,970
Ensembl chr 5:179,965,928...179,976,158
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 1:46,883...62,642
Ensembl chr 1:1,249,719...1,259,645
JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 Ensembl chr 1:936,000...966,808 JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO OMIM
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 chr 5:172,905,749...172,915,970
Ensembl chr 5:179,965,928...179,976,158
JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 Ensembl chr 1:997,350...1,034,180 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 1:66,280...81,854
Ensembl chr 1:1,266,581...1,281,430
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 1:63,263...66,360
Ensembl chr 1:1,263,656...1,266,661
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
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 1:35,437...46,538
Ensembl chr 1:1,238,512...1,247,649
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
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532
G TNFRSF4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 Ensembl chr 1:1,168,935...1,171,337 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 Ensembl chr 1:1,131,691...1,155,349 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 1:8,756...28,672
Ensembl chr 1:1,211,502...1,231,530
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 chr11:47,356,465...47,364,710
Ensembl chr11:47,910,551...47,918,014
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 chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
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 chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237
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 chr2B:76,867,908...76,888,403
Ensembl chr2B:194,787,575...194,810,993
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 chr2B:76,748,487...76,782,649
Ensembl chr2B:194,668,211...194,702,343
JBrowse link
Ehlers-Danlos Syndrome Type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, procollagen proteinase deficient ClinVar PMID:2404284, PMID:8347685 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, procollagen proteinase deficient ClinVar PMID:25441681 NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
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 chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895
JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE ClinVar PMID:27745832 NCBI chr12:7,191,679...7,202,036
Ensembl chr12:7,106,157...7,117,614
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 chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895
JBrowse link
G C1S complement C1s ISO OMIM NCBI chr12:7,191,679...7,202,036
Ensembl chr12:7,106,157...7,117,614
JBrowse link
epidermolysis bullosa dystrophica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain susceptibility ISO DNA:insertion-deletion OMIM
RGD
PMID:8275094 RGD:1600946 NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chr 7:46,564,234...46,573,145 JBrowse link
G MMP1 matrix metallopeptidase 1 severity ISO DNA:insertion:promoter:g.-1607_-1606insG (human) OMIM
RGD
PMID:18030675 RGD:8549728 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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 chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
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 chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
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 chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
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 chr12:23,668,368...23,747,369
Ensembl chr12:24,172,749...24,252,314
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 chr11:22,201,694...22,295,781
Ensembl chr11:22,112,482...22,206,637
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 1:1,680,590...1,682,020
Ensembl chr 1:2,818,917...2,820,050
JBrowse link
G AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chr 8:519,824...572,617
Ensembl chr 8:6,713,082...6,765,472
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
JBrowse link
G ARHGDIA Rho GDP dissociation inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr17:76,273,196...76,276,942 JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chr 8:17,272,632...17,300,902 JBrowse link
G ASPN asporin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:63,579,188...63,605,811
Ensembl chr 9:91,651,629...91,677,969
JBrowse link
G CAPG capping actin protein, gelsolin like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr2A:85,447,296...85,466,677
Ensembl chr2A:86,997,891...87,016,263
JBrowse link
G CLIC1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 6:31,391,958...31,397,920
Ensembl chr 6:32,280,645...32,286,621
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651
JBrowse link
G CRABP1 cellular retinoic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr15:57,269,794...57,277,697
Ensembl chr15:76,234,401...76,242,311
JBrowse link
G EIF5A eukaryotic translation initiation factor 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr17:7,341,076...7,346,570
Ensembl chr17:7,327,363...7,333,270
JBrowse link
G FGG fibrinogen gamma chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 4:146,970,671...146,979,348
Ensembl chr 4:158,788,966...158,797,237
JBrowse link
G FOXL2 forkhead box L2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chr 3:135,968,040...135,980,063 JBrowse link
G FTH1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr11:57,329,163...57,332,248 JBrowse link
G FTL ferritin light chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr19:45,966,431...45,968,015
Ensembl chr19:54,788,854...54,790,465
JBrowse link
G HBD hemoglobin subunit delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr11:5,381,854...5,383,637
Ensembl chr11:5,050,308...5,052,243
JBrowse link
G LGALS1 galectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr22:18,593,154...18,597,432
Ensembl chr22:36,426,228...36,430,356
JBrowse link
G MIF macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009
JBrowse link
G MYDGF myeloid derived growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr19:3,674,001...3,689,123
Ensembl chr19:4,627,108...4,639,608
JBrowse link
G MYL6B myosin light chain 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr12:32,757,712...32,763,287
Ensembl chr12:33,008,519...33,013,816
JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chr15:34,798,880...34,963,823
Ensembl chr15:53,118,411...53,283,076
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 9:108,518,698...108,531,316
Ensembl chr 9:137,482,420...137,495,990
JBrowse link
G PFN1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr17:4,993,853...4,996,811 JBrowse link
G PRDX1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:44,813,508...44,824,430
Ensembl chr 1:46,171,453...46,182,018
JBrowse link
G PRDX2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr19:12,359,084...12,363,552
Ensembl chr19:13,103,422...13,107,369
JBrowse link
G RAN RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr12:128,497,407...128,503,049
Ensembl chr12:132,694,498...132,699,668
JBrowse link
G S100A10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:127,341,974...127,353,054
Ensembl chr 1:130,985,312...130,995,130
JBrowse link
G S100A4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:128,898,765...128,901,042
Ensembl chr 1:132,527,846...132,530,122
JBrowse link
G S100A8 S100 calcium binding protein A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:128,741,378...128,742,520
Ensembl chr 1:132,370,435...132,371,591
JBrowse link
G S100A9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:128,709,175...128,712,461
Ensembl chr 1:132,338,246...132,341,497
JBrowse link
G SERPINB5 serpin family B member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr18:56,836,403...56,864,533
Ensembl chr18:60,148,552...60,176,624
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 chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
JBrowse link
G SFN stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:26,126,212...26,127,761
Ensembl chr 1:27,182,834...27,183,580
JBrowse link
G TAGLN transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr11:112,033,257...112,038,749
Ensembl chr11:115,966,516...115,972,129
JBrowse link
G TPM1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr15:41,989,239...42,018,520
Ensembl chr15:60,286,587...60,315,530
JBrowse link
G TPSB2 tryptase beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793
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 chr12:40,726,137...40,757,690 JBrowse link
limited scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV1 caveolin 1 no_association
susceptibility
ISO DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human)
DNA:SNPs:enhancer, intron:multiple
RGD PMID:22402147 RGD:8661768 NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:17102953 RGD:12903974 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G FASLG Fas ligand ISO RGD PMID:17102953 RGD:12903974 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
JBrowse link
G IL2 interleukin 2 susceptibility ISO DNA:polymorphism::-384T>G(human) RGD PMID:17444587 RGD:4142872 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:20808962 RGD:4892610 NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G PGF placental growth factor ISO protein:increased expression:plasma RGD PMID:22461185 RGD:6483571 NCBI chr14:55,494,152...55,508,066 JBrowse link
G SERPINE1 serpin family E member 1 ISO mRNA,protein:increased expression:skin: RGD PMID:15730388 RGD:13208597 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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 chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750
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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
localized scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A ISO mRNA,protein:increased expression:skin: RGD PMID:15803328 RGD:8662838 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15863969 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
JBrowse link
G HGF hepatocyte growth factor treatment ISO RGD PMID:14712301 RGD:8548627 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:7916356 RGD:8158116 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IL13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12920362 RGD:8549537 NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
JBrowse link
G LMNA lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15726408 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:9804345 RGD:1582543 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO RGD PMID:7510487 RGD:7394847 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9843018 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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 chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G FBN1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
JBrowse link
G IFNG interferon gamma ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 ISO RGD PMID:2968364 RGD:10448928 NCBI chr20:2,571,393...2,580,642
Ensembl chr20:2,335,499...2,344,763
JBrowse link
G SNRPC small nuclear ribonucleoprotein polypeptide C ISO associated with Hypertension, Pulmonary RGD PMID:10555891 RGD:10766447 NCBI chr 6:34,324,127...34,340,526
Ensembl chr 6:35,421,467...35,437,622
JBrowse link
G TLR3 toll like receptor 3 ISO RGD PMID:16453294 RGD:5129221 NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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:67,093,675...67,231,318
Ensembl chr  X:77,255,312...77,342,756
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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
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 chr 8:21,410,139...21,457,144
Ensembl chr 8:18,349,836...18,396,796
JBrowse link
G COL1A1 collagen type I alpha 1 chain severity ISO DNA:mutations:exons: c.97G > A,c.1209T > A,c.3702C > T(human)
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein disease
ClinVar Annotator: match by term: Lobstein's Disease
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
DNA:mutation:splice junction:c.1875+1G>A (IVS 27+1G>A)(human)
DNA:snp:intron:c.3207+1G>A (human)
DNA:transition mutation:splice junction:
DNA:deletion: :
DNA:mutation:exon:c.3235G>A(p.G1079S)(human)
DNA:transversion mutation:intron:
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1137656, PMID:2037280, PMID:3722186, PMID:6876111, PMID:7691343, PMID:7695699, PMID:7942841, PMID:8079666, PMID:8218237, PMID:8408653, PMID:8613526, PMID:8669434, PMID:8757037, PMID:8808594, PMID:9016532, PMID:9067755, PMID:9101304, PMID:9295084, PMID:9443882, PMID:9448299, PMID:10073586, PMID:10739762, PMID:10931857, PMID:11090261, PMID:11113887, PMID:11317364, PMID:11432962, PMID:12590186, PMID:13431894, PMID:15024692, PMID:15024745, PMID:15241796, PMID:15741671, PMID:15864348, PMID:15931785, PMID:16705691, PMID:16786509, PMID:16879195, PMID:17078022, PMID:17211858, PMID:17309652, PMID:17392686, PMID:18028452, PMID:18248096, PMID:18272325, PMID:18412368, PMID:18553566, PMID:18670065, PMID:18704262, PMID:18755172, PMID:18996919, PMID:19344236, PMID:19358256, PMID:19550437, PMID:19751715, PMID:20087402, PMID:20696291, PMID:21113976, PMID:21249479, PMID:21341209, PMID:21344539, PMID:21567126, PMID:21667357, PMID:21801164, PMID:21884818, PMID:22174522, PMID:22565191, PMID:22570641, PMID:22589248, PMID:22753364, PMID:23047998, PMID:23079818, PMID:23522764, PMID:23587214, PMID:23735642, PMID:24147872, PMID:24389367, PMID:24390061, PMID:24443344, PMID:24668929, PMID:24715559, PMID:24891183, PMID:24964776, PMID:25086671, PMID:25146735, PMID:25525159, PMID:25597651, PMID:25741868, PMID:25944380, PMID:25963598, PMID:26177859, PMID:26188975, PMID:26235824, PMID:26467025, PMID:26627451, PMID:26633542, PMID:26712438, PMID:27044453, PMID:27059743, PMID:27060301, PMID:27132807, PMID:27509835, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28102596, PMID:28116328, PMID:28378289, PMID:28492532, PMID:28668235, PMID:29150909, PMID:29543232, PMID:29946973, PMID:30311386, PMID:31319225 RGD:11571614, RGD:11571617, RGD:11571620, RGD:11667065, RGD:11667066, RGD:11667068, RGD:734802, RGD:8552657 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO DNA:deletion:exon:3983del (mouse)
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein disease
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Lobstein's Disease
ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
DNA:mutations, haplotype (human)
DNA:mutation:exon:c.87T > C(human)
DNA:snp:cds:p.G328S (human)
RGD
ClinVar
PMID:458828, PMID:1978725, PMID:2010058, PMID:2567784, PMID:2824475, PMID:2985635, PMID:2993307, PMID:3372533, PMID:3403536, PMID:6092353, PMID:7695699, PMID:7860070, PMID:8071956, PMID:8094076, PMID:8218237, PMID:8446583, PMID:8456808, PMID:8829649, PMID:9016532, PMID:9272740, PMID:9295084, PMID:9399846, PMID:9557891, PMID:9594376, PMID:9923651, PMID:10976985, PMID:11288717, PMID:11317364, PMID:15077201, PMID:15172002, PMID:15241796, PMID:16705691, PMID:16816023, PMID:17078022, PMID:18028452, PMID:18272325, PMID:18311573, PMID:18996919, PMID:19344236, PMID:21341209, PMID:21344539, PMID:21520333, PMID:21667357, PMID:21801164, PMID:21884818, PMID:21912751, PMID:22206639, PMID:22589248, PMID:23692737, PMID:24033266, PMID:24140640, PMID:24501682, PMID:24668929, PMID:24767406, PMID:25326637, PMID:25450603, PMID:25633413, PMID:25741868, PMID:25835785, PMID:25944380, PMID:26138843, PMID:26177859, PMID:26432670, PMID:26467025, PMID:26604951, PMID:27056980, PMID:27146342, PMID:27509835, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28378289, PMID:28396251, PMID:28492532, PMID:28498836, PMID:28625337, PMID:28810924, PMID:28916840, PMID:29595812, PMID:30311386 RGD:11667066, RGD:1581197, RGD:7248772, RGD:734804 NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
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 chr 3:33,040,030...33,071,095
Ensembl chr 3:33,342,694...33,370,863
JBrowse link
G FKBP10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr17:15,490,667...15,500,894
Ensembl chr17:15,709,629...15,718,953
JBrowse link
G LRP5 LDL receptor related protein 5 treatment ISO RGD PMID:24677211 RGD:12792279 NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817
JBrowse link
G P3H1 prolyl 3-hydroxylase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Osteogenesis imperfecta
CTD
ClinVar
PMID:18566967, PMID:24498616, PMID:25741868, PMID:26634552, PMID:28492532, PMID:31319225 NCBI chr 1:42,046,128...42,065,718
Ensembl chr 1:43,423,900...43,443,336
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 chr15:43,108,139...43,115,470
Ensembl chr15:61,400,272...61,406,758
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 chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
JBrowse link
G SERPINH1 serpin family H member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr11:70,621,893...70,632,570 JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:24033266, PMID:25741868 NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764
JBrowse link
G SNX22 sorting nexin 22 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar NCBI chr15:43,103,990...43,109,802
Ensembl chr15:61,396,185...61,401,937
JBrowse link
G SP7 Sp7 transcription factor ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr12:35,409,055...35,427,871
Ensembl chr12:36,199,673...36,209,494
JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:1793673 NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750
JBrowse link
G WNT1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 NCBI chr12:39,767,839...39,772,460
Ensembl chr12:40,648,413...40,652,583
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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta
ClinVar PMID:2993307, PMID:3372533, PMID:6092353, PMID:7695699, PMID:7860070, PMID:8094076, PMID:8218237, PMID:8829649, PMID:9016532, PMID:9272740, PMID:9594376, PMID:11288717, PMID:11317364, PMID:15077201, PMID:15241796, PMID:16705691, PMID:16816023, PMID:16879195, PMID:17078022, PMID:19344236, PMID:21520333, PMID:21667357, PMID:22206639, PMID:22589248, PMID:22753364, PMID:23692737, PMID:24501682, PMID:25326637, PMID:25450603, PMID:25741868, PMID:25944380, PMID:26138843, PMID:26177859, PMID:26604951, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28492532, PMID:28498836, PMID:28810924, PMID:29595812, PMID:30311386 NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
JBrowse link
G ITGA3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr17:44,145,974...44,181,343
Ensembl chr17:49,019,892...49,055,245
JBrowse link
G PDK2 pyruvate dehydrogenase kinase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr17:44,185,463...44,202,221
Ensembl chr17:49,060,030...49,076,115
JBrowse link
G PPP1R9B protein phosphatase 1 regulatory subunit 9B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr17:44,224,007...44,240,906
Ensembl chr17:49,098,089...49,126,932
JBrowse link
G SAMD14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr17:44,202,161...44,220,197
Ensembl chr17:49,077,639...49,087,938
JBrowse link
G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr17:44,255,807...44,266,182
Ensembl chr17:49,130,332...49,141,188
JBrowse link
osteogenesis imperfecta type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINH1 serpin family H member 1 ISO OMIM NCBI chr11:70,621,893...70,632,570 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 chr17:15,490,667...15,500,894
Ensembl chr17:15,709,629...15,718,953
JBrowse link
osteogenesis imperfecta type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKBP10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: OI, TYPE XII
ClinVar Annotator: match by term: Osteogenesis imperfecta, type XII
ClinVar PMID:20362275, PMID:20839288, PMID:21567934, PMID:22107750, PMID:22949511, PMID:25741868 NCBI chr17:15,490,667...15,500,894
Ensembl chr17:15,709,629...15,718,953
JBrowse link
G SP7 Sp7 transcription factor ISO OMIM NCBI chr12:35,409,055...35,427,871
Ensembl chr12:36,199,673...36,209,494
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 chr 8:21,410,139...21,457,144
Ensembl chr 8:18,349,836...18,396,796
JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: OI, TYPE XIII ClinVar NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764
JBrowse link
osteogenesis imperfecta type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM38B transmembrane protein 38B ISO OMIM NCBI chr 9:76,854,177...76,938,334
Ensembl chr 9:104,980,935...105,128,988
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 chr12:39,767,839...39,772,460
Ensembl chr12:40,648,413...40,652,583
JBrowse link
G WNT10B Wnt family member 10B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xv ClinVar PMID:25741868, PMID:29481978 NCBI chr12:39,771,163...39,785,411
Ensembl chr12:40,659,106...40,665,734
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 chr11:46,236,384...46,280,145
Ensembl chr11:46,788,561...46,830,246
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 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750
JBrowse link
osteogenesis imperfecta type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TENT5A terminal nucleotidyltransferase 5A ISO OMIM NCBI chr 6:79,636,412...79,643,444
Ensembl chr 6:82,901,079...82,908,072
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:14,470,268...14,529,854
Ensembl chr  X:21,825,780...21,883,550
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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO OMIM NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
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 chr15:59,959,985...59,970,904
Ensembl chr15:78,914,991...78,926,612
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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
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 chr 8:21,410,139...21,457,144
Ensembl chr 8:18,349,836...18,396,796
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 1:105,538,215...105,769,973
Ensembl chr 1:104,249,891...104,481,259
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO OMIM NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO OMIM NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237
JBrowse link
G FKBP10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr17:15,490,667...15,500,894
Ensembl chr17:15,709,629...15,718,953
JBrowse link
G P3H1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 1:42,046,128...42,065,718
Ensembl chr 1:43,423,900...43,443,336
JBrowse link
G SERPINF1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
JBrowse link
G WNT1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr12:39,767,839...39,772,460
Ensembl chr12:40,648,413...40,652,583
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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO OMIM NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
JBrowse link
osteogenesis imperfecta type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFITM5 interferon induced transmembrane protein 5 ISO OMIM NCBI chr11:294,184...295,525
Ensembl chr11:338,216...339,557
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 chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
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 chr 3:33,040,030...33,071,095
Ensembl chr 3:33,342,694...33,370,863
JBrowse link
G GLB1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 3:33,024,623...33,031,877 JBrowse link
osteogenesis imperfecta type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3H1 prolyl 3-hydroxylase 1 ISO OMIM NCBI chr 1:42,046,128...42,065,718
Ensembl chr 1:43,423,900...43,443,336
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 chr15:43,108,139...43,115,470
Ensembl chr15:61,400,272...61,406,758
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 chr15:43,103,990...43,109,802
Ensembl chr15:61,396,185...61,401,937
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 chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817
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 chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
JBrowse link
polymyalgia rheumatica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRH corticotropin releasing hormone no_association ISO DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr 8:62,714,721...62,716,979
Ensembl chr 8:64,383,419...64,384,009
JBrowse link
G CRP C-reactive protein treatment ISO RGD PMID:2859021 RGD:9495925 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G HFE homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30657865 RGD:14746966 NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591
JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G MMP3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
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 chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067
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 chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
JBrowse link
Progressive Renal Failure with Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALCA calcitonin related polypeptide alpha ISO RGD PMID:15928032 RGD:7204486 NCBI chr11:15,055,897...15,061,539
Ensembl chr11:14,745,588...14,751,267
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 chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
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 1:200,865,602...200,892,199
Ensembl chr 1:205,870,394...205,893,032
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 chr15:44,142,312...44,159,395
Ensembl chr15:62,425,780...62,441,214
JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Scleroderma ClinVar PMID:25741868, PMID:28492532 NCBI chr11:47,356,465...47,364,710
Ensembl chr11:47,910,551...47,918,014
JBrowse link
Sclerotylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 ISO OMIM NCBI chr 4:86,567,722...86,651,527
Ensembl chr 4:97,240,614...97,324,366
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 chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080
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 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO protein:increased expression:serum RGD PMID:18825489 RGD:8695973 NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
JBrowse link
G AGT angiotensinogen ISO protein:decreased expression:plasma RGD PMID:17360781 RGD:8548889 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G ANXA5 annexin A5 severity ISO RGD PMID:21124692 RGD:7242029 NCBI chr 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972
JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 ISO protein:increased expression:saliva (human) RGD PMID:17722226 RGD:11049167 NCBI chr2B:105,478,035...105,513,665
Ensembl chr2B:224,076,356...224,111,643
JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNPs: :rs10516487,rs17266594(human) RGD PMID:19815934 RGD:9684975 NCBI chr 4:94,216,751...94,507,965
Ensembl chr 4:104,813,791...105,171,527
JBrowse link
G BDNF brain derived neurotrophic factor ISO protein:decreased expression:serum: RGD PMID:21085492 RGD:5144060 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
JBrowse link
G C3 complement C3 ISO protein:increased expression:plasma RGD PMID:2803327 RGD:7421518 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
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 chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
JBrowse link
G CCL2 C-C motif chemokine ligand 2 severity ISO protein:increased expression:respiratory system fluid/secretion
protein:increased expression:serum
RGD PMID:19615053, PMID:21049277, PMID:21285114 RGD:4891453, RGD:5135284, RGD:5683876 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO mRNA:increased expression:skin RGD PMID:21742595 RGD:7483587 NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
JBrowse link
G CCN1 cellular communication network factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147
JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:23142052 RGD:9479741 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
JBrowse link
G CCR6 C-C motif chemokine receptor 6 ISO mRNA:increased expression:skin RGD PMID:21742595 RGD:7483587 NCBI chr 6:165,094,563...165,109,774
Ensembl chr 6:170,069,689...170,084,779
JBrowse link
G CD247 CD247 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr 1:142,863,860...142,951,851
Ensembl chr 1:146,648,733...146,736,071
JBrowse link
G CD86 CD86 molecule ISO DNA:snp:5' utr:g.-3479T>G (human) RGD PMID:16790753 RGD:4892554 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
JBrowse link
G CFB complement factor B ISO protein:increased expression:plasma RGD PMID:2803327 RGD:7421518 NCBI chr 6:31,606,716...31,612,782 JBrowse link
G CHI3L1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:16195162 RGD:4892666 NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229
JBrowse link
G CLU clusterin ISO protein:increased expression:serum RGD PMID:22350181 RGD:8898558 NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO RGD PMID:1697606 RGD:5688336 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
JBrowse link
G CSF1 colony stimulating factor 1 ISO mRNA:increased expression:skin RGD PMID:22700848 RGD:7257593 NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:serum RGD PMID:15608300 RGD:4891898 NCBI chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:lung, skin
DNA:polymorphisms: :p.V249I, p.T280M (human)
RGD PMID:15608300, PMID:16584113, PMID:23142052 RGD:4891896, RGD:4891898, RGD:9479741 NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:serum RGD PMID:21049277, PMID:21303517 RGD:5135279, RGD:5135284 NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
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 chr17:4,789,280...4,795,656
Ensembl chr17:4,778,717...4,785,639
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum RGD PMID:21049277, PMID:21303517 RGD:5135279, RGD:5135284 NCBI chr 4:48,198,478...48,204,658
Ensembl chr 4:54,036,342...54,042,502
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:60,880,759...60,883,355
Ensembl chr  X:70,933,160...70,935,756
JBrowse link
G CXCR6 C-X-C motif chemokine receptor 6 ISO protein:increased expression:skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr 3:45,848,722...45,856,145
Ensembl chr 3:46,960,610...46,961,638
JBrowse link
G EDN1 endothelin 1 ISO protein:increased secretion:plasma (human) RGD PMID:7653485 RGD:4145072 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G ELN elastin ISO RGD PMID:22563211 RGD:9585742
G ESR1 estrogen receptor 1 susceptibility ISO DNA:SNP:intron: RGD PMID:19032828 RGD:8553058 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
JBrowse link
G ESR2 estrogen receptor 2 no_association ISO DNA:SNP:exon: RGD PMID:19032828 RGD:8553058 NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
JBrowse link
G F11R F11 receptor ISO RGD PMID:19153103 RGD:7488918 NCBI chr 1:136,399,766...136,424,722
Ensembl chr 1:140,324,943...140,346,890
JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma: RGD PMID:9374919 RGD:11565087 NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
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 chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO protein:increased expression:skin: RGD PMID:21865112 RGD:8552335 NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006
JBrowse link
G FSTL1 follistatin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr 3:117,508,772...117,564,254 JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility ISO DNA:missense mutation:cds:p.K173N (human) RGD PMID:15135176 RGD:12798510 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G HDAC5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr17:13,273,052...13,319,695
Ensembl chr17:13,446,836...13,479,140
JBrowse link
G HGF hepatocyte growth factor treatment
severity
ISO protein:increased expression:serum:
mRNA:increased expression:skin:
RGD PMID:17049072, PMID:22286923, PMID:24387171 RGD:8548624, RGD:8548651, RGD:8548659 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
JBrowse link
G HMGB1 high mobility group box 1 ISO protein:increased expression:serum RGD PMID:18825489 RGD:8695973 NCBI chr13:11,737,942...11,894,923
Ensembl chr13:30,174,899...30,179,527
JBrowse link
G HNRNPL heterogeneous nuclear ribonucleoprotein L ISO RGD PMID:21569507 RGD:9999440 NCBI chr19:35,943,720...35,959,795 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 chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IFNG interferon gamma treatment ISO RGD PMID:1418004 RGD:8157622 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:increased expression:serum: RGD PMID:19004037 RGD:12743606 NCBI chr 7:46,564,234...46,573,145 JBrowse link
G IL13 interleukin 13 no_association ISO DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human)
mRNA, protein:increased expression:skin
protein:increased expression:serum
RGD PMID:9034992, PMID:15564778, PMID:22045834 RGD:5684370, RGD:5684371, RGD:8549502 NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
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:107,735,233...107,813,282
Ensembl chr  X:118,202,285...118,266,770
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:epidermis, endodermis, mast cell (human) RGD PMID:22833167, PMID:23335253 RGD:8696037, RGD:8696038 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
JBrowse link
G IL1B interleukin 1 beta susceptibility ISO DNA:polymorphisms:promoter:-31T>C,-511C>T (human) RGD PMID:17444587 RGD:4142872 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO RGD PMID:1375465 RGD:8662902 Ensembl chr2A:103,193,131...103,230,005 JBrowse link
G IL2 interleukin 2 ISO protein:increased expression:serum: RGD PMID:2213757 RGD:8663482 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G IL23R interleukin 23 receptor no_association ISO DNA:SNPs: :rs11209026, rs11465804 (human)
DNA:SNPs: :rs11209032,rs1495965(human)
RGD PMID:18713787, PMID:19918037 RGD:5096624, RGD:8549603 NCBI chr 1:66,408,839...66,502,535
Ensembl chr 1:68,293,514...68,386,815
JBrowse link
G IL27 interleukin 27 ISO protein:increased expression:serum RGD PMID:20705635 RGD:5128477
G IL27RA interleukin 27 receptor subunit alpha ISO mRNA:increased expression:skin RGD PMID:20705635 RGD:5128477 Ensembl chr19:14,323,618...14,343,627 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 chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:23406616 RGD:12792238 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G IRF5 interferon regulatory factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr 7:120,889,752...120,902,096
Ensembl chr 7:133,415,170...133,426,356
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 chr11:128,916,024...129,006,497
Ensembl chr11:132,783,580...132,864,657
JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:skin:
protein:decreased expression:bone marrow:
RGD PMID:21865112, PMID:22271757 RGD:8551843, RGD:8552335 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G LOC100996023 uncharacterized LOC100996023 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21750679 NCBI chr 6:30,856,474...30,863,469
Ensembl chr 6:31,726,297...31,751,426
JBrowse link
G LTA lymphotoxin alpha susceptibility ISO DNA:SNP:intron:252A>G (human) RGD PMID:10600011 RGD:8548796 NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
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 chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
JBrowse link
G MMP3 matrix metallopeptidase 3 severity ISO protein:increased expression:serum RGD PMID:12051403, PMID:15498049 RGD:8693663, RGD:8693674 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:15642145 RGD:1580577 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MUC1 mucin 1, cell surface associated ISO protein:increased expression:serum RGD PMID:19286849 RGD:4143496 NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850
JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphism: : RGD PMID:10599336 RGD:5147680 NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327
JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr19:41,794,037...41,837,047
Ensembl chr19:50,399,668...50,443,024
JBrowse link
G NGF nerve growth factor ISO protein:increased expression:serum RGD PMID:21085492 RGD:5144060 NCBI chr 1:87,223,597...87,276,759 JBrowse link
G NOTCH4 notch receptor 4 ISO DNA: SNPs: non-coding :multiple RGD PMID:21779181 RGD:6480691 NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:superficial vasculature (human) RGD PMID:20228226 RGD:11541095 NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21979415 RGD:5508306 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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 chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830
JBrowse link
G RHOB ras homolog family member B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21750679 NCBI chr2A:20,433,576...20,435,986
Ensembl chr2A:20,549,254...20,549,844
JBrowse link
G S1PR5 sphingosine-1-phosphate receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29033951 NCBI chr19:10,064,332...10,069,999
Ensembl chr19:10,727,527...10,728,728
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:dermis,microvessel: RGD PMID:26414805 RGD:11343779 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G SERPINF2 serpin family F member 2 ISO protein:increased expression:plasma RGD PMID:12595617 RGD:1625530 NCBI chr17:1,725,469...1,738,887
Ensembl chr17:1,618,549...1,631,570
JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:25707573 NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
JBrowse link
G SIRT7 sirtuin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25707573 NCBI chr17:76,317,560...76,323,761
Ensembl chr17:82,020,077...82,026,289
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:repeat, polymorphism:promoter, intron: (human) RGD PMID:17876529 RGD:5684940 NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs11889341) (human)
DNA:SNP:intron: (rs7574865) (human)
CTD
RGD
PMID:19644887, PMID:19950257, PMID:20383147 RGD:8661700, RGD:8661711 NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21750679 NCBI chr 5:146,457,347...146,514,515
Ensembl chr 5:152,459,868...152,510,540
JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA,protein:increased expression:skin:
protein:increased expression:serum:
protein:increased expression:bone marrow:
RGD PMID:16426919, PMID:21636803, PMID:22271757, PMID:24387171 RGD:5684416, RGD:7421579, RGD:8548659, RGD:8551843 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
G VWF von Willebrand factor severity ISO RGD PMID:22596213 RGD:7205639 NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153
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 chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
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 chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
JBrowse link
Warburg-Cinotti Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDR2 discoidin domain receptor tyrosine kinase 2 ISO OMIM NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766
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:97,189,556...97,253,371
Ensembl chr  X:107,559,639...107,623,389
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 chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892
JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO OMIM NCBI chr  X:97,538,978...97,797,019
Ensembl chr  X:108,008,689...108,166,095
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:97,254,306...97,539,473
Ensembl chr  X:107,625,718...107,908,363
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 chr 8:15,335,795...15,421,472
Ensembl chr 8:12,088,873...12,175,927
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:143,799,088...143,825,282 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12770
    disease of anatomical entity 12302
      Skin and Connective Tissue Diseases 4837
        connective tissue disease 3620
          collagen disease 292
            Alport syndrome + 12
            Cardiomyopathy Hypogonadism Collagenoma Syndrome 0
            Collagenosis, Familial Reactive Perforating 0
            Ehlers-Danlos syndrome + 99
            Familial Cutaneous Collagenoma 1
            Keloid + 39
            Kniest dysplasia 1
            Necrobiotic Disorders + 0
            disseminated eosinophilic collagen disease 0
            epidermolysis bullosa dystrophica + 4
            mixed connective tissue disease 7
            osteogenesis imperfecta + 35
            polymyalgia rheumatica 6
            scleroderma + 111
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.