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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:A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen. (DO)
Synonyms:exact_synonym: collagen diseases;   collagen disorder
 primary_id: MESH:D003095
 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 CLDN14 claudin 14 ISO ClinVar Annotator: match by term: Alport syndrome ClinVar PMID:30311386 NCBI chr13:200,121,796...200,201,712
Ensembl chr13:200,128,477...200,145,525 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain susceptibility ISO DNA:deletion, nonsense mutations
ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria		 RGD
ClinVar		 PMID:1400291 PMID:2557550 PMID:7780062 PMID:7987301 PMID:7987396 More... RGD:1600924 NCBI chr15:128,611,640...128,763,331
Ensembl chr15:128,611,866...128,763,122 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane ClinVar PMID:1721625 PMID:9536098 PMID:9792860 PMID:11134255 PMID:11685592 More... NCBI chr15:128,472,228...128,612,302
Ensembl chr15:128,476,257...128,595,477 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane ClinVar PMID:2349482 PMID:7599631 PMID:7695699 PMID:8218237 PMID:8455372 More... NCBI chr  X:88,958,837...89,183,306
Ensembl chr  X:88,958,849...89,183,372 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO RGD PMID:22937108 RGD:7175090
G MMP12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000 		JBrowse link
G MYH9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472 		JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Alport syndrome ClinVar PMID:28492532 PMID:30311386 NCBI chr12:60,533,502...60,582,645 JBrowse link
autosomal dominant Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome | ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss OMIM
ClinVar		 PMID:1400291 PMID:2557550 PMID:6138234 PMID:7780062 PMID:7987301 More... NCBI chr15:128,611,640...128,763,331
Ensembl chr15:128,611,866...128,763,122 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome ClinVar PMID:9536098 PMID:9792860 PMID:11961012 PMID:12631110 PMID:12748344 More... NCBI chr15:128,472,228...128,612,302
Ensembl chr15:128,476,257...128,595,477 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Autosomal dominant Alport syndrome ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More... NCBI chr  X:88,958,837...89,183,306
Ensembl chr  X:88,958,849...89,183,372 		JBrowse link
G MYH9 myosin heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472 		JBrowse link
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant OMIM
ClinVar		 PMID:1680286 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7861014 More... NCBI chr13:31,262,750...31,295,112 JBrowse link
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:16098032 More... NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,024,314...21,119,396 		JBrowse link
autosomal recessive Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:15716328 RGD:5688157 NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Alport syndrome 3b, autosomal recessive | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome OMIM
ClinVar		 PMID:1400291 PMID:6138234 PMID:7633417 PMID:7780062 PMID:7987301 More... NCBI chr15:128,611,640...128,763,331
Ensembl chr15:128,611,866...128,763,122 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome OMIM
ClinVar		 PMID:7987396 PMID:8787673 PMID:9195222 PMID:9536098 PMID:9792860 More... NCBI chr15:128,472,228...128,612,302
Ensembl chr15:128,476,257...128,595,477 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 ISO OMIM:203780 MouseDO NCBI chr 3:111,823,075...111,833,929
Ensembl chr 3:111,821,690...111,833,928 		JBrowse link
Brittle Cornea Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Brittle cornea syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29228253 NCBI chr 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257 		JBrowse link
brittle cornea syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,189,561...103,382,094 		JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B | ClinVar Annotator: match by term: ZNF469-related condition OMIM
ClinVar		 PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 More... NCBI chr 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257 		JBrowse link
brittle cornea syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 2 OMIM
ClinVar		 PMID:8458232 PMID:9536098 PMID:17576681 PMID:21664999 PMID:22122778 More... NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,189,561...103,382,094 		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:16199547 PMID:22689593 PMID:22949511 PMID:25741868 PMID:28492532 More... NCBI chr12:20,872,155...20,881,604
Ensembl chr12:20,872,158...20,882,644 		JBrowse link
Bruck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Bruck syndrome 1 ClinVar NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Bruck syndrome 1 OMIM
ClinVar		 PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 More... NCBI chr12:20,872,155...20,881,604
Ensembl chr12:20,872,158...20,882,644 		JBrowse link
Bruck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Bruck syndrome 2 | ClinVar Annotator: match by term: PLOD2-related condition OMIM
ClinVar		 PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 More... NCBI chr13:86,402,673...86,513,167
Ensembl chr13:86,401,244...86,513,105 		JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4HB prolyl 4-hydroxylase subunit beta ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome ClinVar PMID:25741868 NCBI chr12:1,121,816...1,131,291
Ensembl chr12:1,121,824...1,131,289 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:104,560,723...105,005,400
Ensembl chr 8:104,882,035...105,005,398 		JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4HB prolyl 4-hydroxylase subunit beta ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 OMIM
ClinVar		 PMID:25683117 PMID:25741868 PMID:28492532 PMID:29263160 PMID:30063094 NCBI chr12:1,121,816...1,131,291
Ensembl chr12:1,121,824...1,131,289 		JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SEC24D SEC24 homolog D, COPII coat complex component ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 | ClinVar Annotator: match by term: SEC24D-related condition OMIM
ClinVar		 PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 More... NCBI chr 8:104,560,723...105,005,400
Ensembl chr 8:104,882,035...105,005,398 		JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | ClinVar Annotator: match by term: OIEDS SYNDROME 1 OMIM
ClinVar		 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8456808 PMID:8613526 More... NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | ClinVar Annotator: match by term: OIEDS SYNDROME 2 OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:10027910 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPC centromere protein C ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr 8:65,237,825...65,315,788
Ensembl chr 8:65,238,090...65,315,713 		JBrowse link
G FBN1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
diffuse scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOQ adiponectin, C1Q and collagen domain containing severity ISO protein:decreased expression:serum RGD PMID:21615510 RGD:8694418 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		JBrowse link
G AGT angiotensinogen ISO protein:increased expression:serum RGD PMID:14730619 RGD:8548886 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833 		JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNPs: :rs10516487,rs17266594,rs3733197(human) RGD PMID:19815934 RGD:9684975 NCBI chr 8:118,814,352...119,114,973
Ensembl chr 8:118,814,061...119,157,504 		JBrowse link
G CAV1 caveolin 1 no_association
susceptibility		 ISO DNA:SNPs:enhancer, intron:multiple
DNA:SNPs:intron, 3' utr: (rs729949, rs3815412, rs9920) (human)		 RGD PMID:22402147 RGD:8661768 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465 		JBrowse link
G IL10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9034992 RGD:5684371 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL13 interleukin 13 ISO DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) RGD PMID:16832637 RGD:5684369 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093 		JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:20338043 RGD:12792275 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 susceptibility ISO DNA:missense mutation:cds:p.F196S (rs1059702) (human) RGD PMID:21898345 RGD:7495782 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 no_association
susceptibility		 ISO DNA:SNP:intron: (rs3821236) (human)
DNA:SNP:intron: (rs7574865) (human)
DNA:SNP:introns: (rs7574865, rs10168266) (human)		 RGD PMID:19286670 PMID:23755762 RGD:8661701 RGD:8661714 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,771...25,074,843 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,045,685...25,056,300 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27228633 NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528 		JBrowse link
G TLR2 toll like receptor 2 disease_progression ISO DNA:polymorphism:cds:p.P631H(rs5743704)(human) RGD PMID:21905008 RGD:8553044 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330 		JBrowse link
G WRN WRN RecQ like helicase ISO RGD PMID:16906373 RGD:10042980 NCBI chr15:53,966,968...54,094,855
Ensembl chr15:53,966,986...54,094,587 		JBrowse link
disabling pansclerotic morphea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STAT4 signal transducer and activator of transcription 4 ISO ClinVar Annotator: match by term: Disabling pansclerotic morphea of childhood | ClinVar Annotator: match by term: STAT4-related condition ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:37256972 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472 		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 ClinVar Annotator: match by term: Ehlers-Danlos syndrome RGD
ClinVar		 PMID:10417273 PMID:22863189 PMID:25741868 PMID:28346524 PMID:28492532 More... RGD:1598739 NCBI chr 2:79,182,901...79,406,879
Ensembl chr 2:79,182,943...79,406,875 		JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:10570920 PMID:11241493 PMID:18414213 PMID:20045993 PMID:23281160 More... NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 susceptibility ISO DNA:transition:exon;808C>T
ClinVar Annotator: match by term: Ehlers-Danlos syndrome		 RGD
ClinVar		 PMID:10473568 PMID:25741868 PMID:28492532 PMID:31278392 PMID:31614862 RGD:1599433 NCBI chr 2:80,349,732...80,359,878
Ensembl chr 2:80,346,307...80,359,973 		JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar NCBI chr 5:63,644,097...63,655,149
Ensembl chr 5:63,643,374...63,655,143 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25188385 PMID:25741868 PMID:28492532 PMID:32214361 NCBI chr 1:130,845,103...130,847,203
Ensembl chr 1:130,845,835...130,846,965 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:2238087 PMID:7691343 PMID:7695699 PMID:8079666 PMID:8218237 More... NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:1577745 PMID:1634225 PMID:1712342 PMID:1990839 PMID:2993307 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:2049575 PMID:2235526 PMID:8514866 PMID:9036918 PMID:9399899 More... NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:10471441 PMID:10602121 PMID:10777716 PMID:10946364 PMID:11992482 More... NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:2855059 PMID:9536098 PMID:11940702 PMID:17576681 PMID:25741868 More... NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191 		JBrowse link
G CYP21A1 cytochrome P450 family 21 subfamily A member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 NCBI chr 7:24,086,138...24,089,364
Ensembl chr 7:24,086,218...24,089,370 		JBrowse link
G DCN decorin ISO OMIM:225400 MouseDO NCBI chr 5:91,678,601...91,713,925
Ensembl chr 5:91,682,658...91,714,235 		JBrowse link
G DSE dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:81,996,894...82,063,847
Ensembl chr 1:81,934,679...82,062,982 		JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:16835936 PMID:17345643 PMID:17935258 PMID:18414213 PMID:19006240 More... NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,152,127...131,370,881 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31428121 PMID:33587123 NCBI chr18:42,903,100...42,913,609
Ensembl chr18:42,903,100...42,913,609 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G LOX lysyl oxidase ISO RGD PMID:8638917 RGD:1581895 NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:9220536 PMID:9536098 PMID:9893157 PMID:10329027 PMID:10686424 More... NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804 		JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:21664999 PMID:25741868 PMID:26395458 PMID:28492532 PMID:33739556 More... NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,189,561...103,382,094 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:15,194,028...15,202,936
Ensembl chr 2:15,194,017...15,210,425 		JBrowse link
G SMAD3 SMAD family member 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:15350224 PMID:21217753 PMID:22167769 PMID:23554019 PMID:24033266 More... NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:increased expression:plasma: RGD PMID:24399159 RGD:11073604 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:22772371 PMID:24465802 PMID:25741868 PMID:26017485 PMID:28139901 More... NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:2511639 PMID:16928994 PMID:18781618 PMID:20332227 PMID:21358634 More... NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:8246946 PMID:9395234 PMID:9590282 PMID:11212236 PMID:16791849 More... NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160 		JBrowse link
G THBS2 thrombospondin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:38433265 NCBI chr 1:854,473...882,467
Ensembl chr 1:855,389...882,473 		JBrowse link
G TNXB tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:11642233 PMID:15733269 PMID:20649799 PMID:20853426 PMID:23555315 More... NCBI chr 7:24,088,873...24,155,815
Ensembl chr 7:24,088,873...24,150,596 		JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:23642083 PMID:23680354 PMID:24082139 PMID:24895405 PMID:25097247 More... NCBI chr 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257 		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 ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: EDS VII, MUTANT PROCOLLAGEN TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 OMIM
ClinVar		 PMID:2037280 PMID:2542316 PMID:7691343 PMID:7695699 PMID:7942841 More... NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A
ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1		 ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A
ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1		 ClinVar PMID:9536098 PMID:10471441 PMID:10602121 PMID:10946364 PMID:11992482 More... NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A
ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1		 ClinVar PMID:9536098 PMID:17576681 PMID:25326637 PMID:25741868 PMID:28087566 More... NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191 		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, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:18311573 PMID:21667357 More... NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 OMIM
ClinVar		 PMID:1556139 PMID:1577745 PMID:1712342 PMID:1978725 PMID:1990839 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		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 ALB albumin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type ClinVar PMID:2404284 PMID:8347685 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type		 ClinVar PMID:1867198 PMID:2037280 PMID:2542316 PMID:2767050 PMID:3082886 More... NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type OMIM
ClinVar		 PMID:3049731 PMID:3383844 PMID:7695699 PMID:7860070 PMID:8094076 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
Ehlers-Danlos syndrome classic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,912,239...272,935,316 JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,022,014...273,066,916
Ensembl chr 1:273,024,009...273,056,039 		JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,119,826...273,155,412
Ensembl chr 1:273,119,904...273,155,409 		JBrowse link
G AEBP1 AE binding protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:25741868 PMID:30759870 NCBI chr18:51,046,895...51,056,789
Ensembl chr18:51,046,899...51,056,698 		JBrowse link
G AK8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,497,661...272,625,668
Ensembl chr 1:272,497,662...272,625,660 		JBrowse link
G BARHL1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,373,125...272,380,223
Ensembl chr 1:272,373,402...272,381,224 		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 1:273,045,620...273,066,916
Ensembl chr 1:273,056,532...273,066,914 		JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G CARD9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G CASD1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:74,276,533...74,347,608
Ensembl chr 9:74,276,908...74,347,588 		JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,763,203...272,770,259
Ensembl chr 1:272,763,003...272,770,255 		JBrowse link
G CFAP77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,216,581...272,362,321
Ensembl chr 1:272,217,072...272,361,733 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1		 ClinVar PMID:10739762 PMID:16786509 PMID:17211858 PMID:23587214 PMID:25597651 More... NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | 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:2052622 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | 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 Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1		 OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:8575750 PMID:8923000 PMID:8950675 More... NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111 		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, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | 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 Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | 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 Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | 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:2855059 PMID:7695699 PMID:8218237 PMID:9425231 PMID:9536098 More... NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191 		JBrowse link
G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,204,407...273,225,562
Ensembl chr 1:273,204,175...273,225,552 		JBrowse link
G DDX31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,383,585...272,454,395
Ensembl chr 1:272,383,595...272,453,979 		JBrowse link
G DNLZ DNL-type zinc finger ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G FAM163B family with sequence similarity 163 member B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,156,749...273,186,756
Ensembl chr 1:273,156,751...273,186,756 		JBrowse link
G FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 1:274,106,276...274,111,970
Ensembl chr 1:274,103,877...274,111,970 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,827,930...272,836,460
Ensembl chr 1:272,827,934...272,836,449 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,701,386...272,715,551
Ensembl chr 1:272,702,184...272,715,539 		JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G GPSM1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G GTF3C4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,454,488...272,479,968
Ensembl chr 1:272,454,503...272,479,952 		JBrowse link
G GTF3C5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,743,527...272,760,055 JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G LCN9 lipocalin 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 ClinVar PMID:28492532 PMID:29907982
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G LUM lumican ISO OMIM:130000 MouseDO NCBI chr 5:91,748,871...91,756,381
Ensembl chr 5:91,748,885...91,757,598 		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:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		JBrowse link
G MED22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,956,119...272,961,618
Ensembl chr 1:272,955,473...272,961,596 		JBrowse link
G MED27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:271,724,910...271,928,367
Ensembl chr 1:271,724,910...271,928,367 		JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 ClinVar PMID:28492532 PMID:29907982
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,735...7,143,095 		JBrowse link
G MYMK myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,101,674...273,111,721
Ensembl chr 1:273,101,678...273,111,727 		JBrowse link
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G NTNG2 netrin G2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,007,513...272,077,105
Ensembl chr 1:272,012,112...272,077,018 		JBrowse link
G OBP2B odorant binding protein 2B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 1:272,886,871...272,890,537 JBrowse link
G OLFM1 olfactomedin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 1:274,236,241...274,261,322
Ensembl chr 1:274,224,454...274,261,328 		JBrowse link
G PAEP progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G PIERCE1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,452,461 		JBrowse link
G PPP1R26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G QSOX2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G RALGDS ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 NCBI chr 1:272,776,844...272,824,179
Ensembl chr 1:272,776,846...272,824,184 		JBrowse link
G RAPGEF1 Rap guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:271,494,243...271,624,609
Ensembl chr 1:271,494,248...271,600,920 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,011,736...273,021,956
Ensembl chr 1:273,011,734...273,021,938 		JBrowse link
G RPL7A ribosomal protein L7a ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,961,421...272,965,636
Ensembl chr 1:272,959,831...272,965,634 		JBrowse link
G RXRA retinoid X receptor alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,698,842...273,797,622
Ensembl chr 1:273,705,505...273,797,620 		JBrowse link
G SARDH sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,230,357...273,295,170
Ensembl chr 1:273,230,375...273,294,621 		JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G SETX senataxin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747 		JBrowse link
G SGCE sarcoglycan epsilon ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:74,402,714...74,473,904
Ensembl chr 9:74,402,717...74,473,910 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr17:48,824,054...48,842,811
Ensembl chr17:48,824,414...48,843,201 		JBrowse link
G SLC2A6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,063,261...273,075,455
Ensembl chr 1:273,063,270...273,075,391 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr15:94,140,635...94,161,793
Ensembl chr15:94,141,988...94,167,408 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G SPACA9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,625,701...272,635,406
Ensembl chr 1:272,625,712...272,636,346 		JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,988,767...273,012,007
Ensembl chr 1:272,995,842...273,011,443 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,965,637...272,970,516
Ensembl chr 1:272,965,643...272,970,483 		JBrowse link
G SURF2 surfeit 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,970,522...272,976,188
Ensembl chr 1:272,970,548...272,975,293 		JBrowse link
G SURF4 surfeit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,975,164...272,988,683
Ensembl chr 1:272,975,160...272,988,688 		JBrowse link
G SURF6 surfeit 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,949,236...272,955,674
Ensembl chr 1:272,949,247...272,955,197 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:30675029 NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528 		JBrowse link
G TMEM250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951 		JBrowse link
G TTF1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,180,488...272,212,504
Ensembl chr 1:272,180,498...272,212,478 		JBrowse link
G UBAC1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G UCK1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:271,448,362...271,453,811
Ensembl chr 1:271,448,365...271,453,816 		JBrowse link
G VAV2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,303,142...273,476,250
Ensembl chr 1:273,303,144...273,476,207 		JBrowse link
G WDR5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,560,274...273,577,827
Ensembl chr 1:273,560,283...273,578,063 		JBrowse link
G WDR75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr15:93,981,054...94,026,479
Ensembl chr15:93,981,215...94,026,707 		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 COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EDS II | ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MITIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE II ClinVar PMID:458828 PMID:1978725 PMID:2010058 PMID:2824475 PMID:2985635 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 ClinVar PMID:15580559 PMID:22696272 PMID:25741868 PMID:28492532 PMID:32720758 More... NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: COL5A2-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 OMIM
ClinVar		 PMID:2855059 PMID:9536098 PMID:11940702 PMID:16199547 PMID:17576681 More... NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191 		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 CYP21A1 cytochrome P450 family 21 subfamily A member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency ClinVar PMID:25741868 NCBI chr 7:24,086,138...24,089,364
Ensembl chr 7:24,086,218...24,089,370 		JBrowse link
G TNXB tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency ClinVar PMID:11642233 PMID:11925569 PMID:12865992 PMID:15733269 PMID:20649799 More... NCBI chr 7:24,088,873...24,155,815
Ensembl chr 7:24,088,873...24,150,596 		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 ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 2 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:27023906 PMID:28492532 PMID:29606302 More... NCBI chr18:51,046,895...51,056,789
Ensembl chr18:51,046,899...51,056,698 		JBrowse link
Ehlers-Danlos syndrome dermatosparaxis type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type OMIM
ClinVar		 PMID:1642226 PMID:7735500 PMID:8215497 PMID:8986271 PMID:9536098 More... NCBI chr 2:79,182,901...79,406,879
Ensembl chr 2:79,182,943...79,406,875 		JBrowse link
G ARL10 ADP ribosylation factor like GTPase 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,496,823...81,506,344
Ensembl chr 2:81,496,825...81,506,329 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,349,732...80,359,878
Ensembl chr 2:80,346,307...80,359,973 		JBrowse link
G CANX calnexin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,879,031...78,915,828
Ensembl chr 2:78,879,033...78,915,827 		JBrowse link
G CBY3 chibby family member 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,933,852...78,936,011 JBrowse link
G CDHR2 cadherin related family member 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,319,179...81,361,598
Ensembl chr 2:81,318,407...81,361,606 		JBrowse link
G CLK4 CDC like kinase 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,729,460...79,752,945
Ensembl chr 2:79,693,669...79,753,712 		JBrowse link
G CLTB clathrin light chain B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,488,191...81,498,623
Ensembl chr 2:81,488,092...81,495,014 		JBrowse link
G CLTB clathrin light chain B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,464,887...81,484,712
Ensembl chr 2:81,464,917...81,485,419 		JBrowse link
G COL23A1 collagen type XXIII alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,766,260...80,141,296
Ensembl chr 2:79,766,150...80,141,293 		JBrowse link
G CPLX2 complexin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,732,527...81,813,189
Ensembl chr 2:81,732,533...81,813,271 		JBrowse link
G DBN1 drebrin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,480,603...80,495,797
Ensembl chr 2:80,479,460...80,495,796 		JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,440,774...80,445,484
Ensembl chr 2:80,439,247...80,445,482 		JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,433,065...80,445,484
Ensembl chr 2:80,433,190...80,438,867 		JBrowse link
G EIF4E1B eukaryotic translation initiation factor 4E family member 1B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,277,086...81,281,668
Ensembl chr 2:81,277,952...81,281,453 		JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,527,451...80,544,835
Ensembl chr 2:80,527,446...80,544,828 		JBrowse link
G FAF2 Fas associated factor family member 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,401,852...81,454,272
Ensembl chr 2:81,401,859...81,454,262 		JBrowse link
G FAM193B family with sequence similarity 193 member B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,396,371...80,430,074
Ensembl chr 2:80,396,371...80,430,071 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,841,536...80,853,791
Ensembl chr 2:80,841,536...80,853,796 		JBrowse link
G GPRIN1 G protein regulated inducer of neurite outgrowth 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,307,732...81,319,183
Ensembl chr 2:81,315,368...81,318,382 		JBrowse link
G GRK6 G protein-coupled receptor kinase 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,496,105...80,527,208
Ensembl chr 2:80,508,979...80,527,210 		JBrowse link
G GRM6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,466,899...79,480,562
Ensembl chr 2:79,466,779...79,479,146 		JBrowse link
G HIGD2A HIG1 hypoxia inducible domain family member 2A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,486,890...81,488,039
Ensembl chr 2:81,486,890...81,488,045 		JBrowse link
G HK3 hexokinase 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,042,401...81,060,832
Ensembl chr 2:81,042,755...81,060,826 		JBrowse link
G HNRNPAB heterogeneous nuclear ribonucleoprotein A/B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,186,998...80,194,155 JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,961,456...78,971,799
Ensembl chr 2:78,963,309...78,969,949 		JBrowse link
G KIAA1191 KIAA1191 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,506,407...81,539,624
Ensembl chr 2:81,520,408...81,539,624 		JBrowse link
G LMAN2 lectin, mannose binding 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,595,064...80,636,168
Ensembl chr 2:80,595,334...80,609,594 		JBrowse link
G LOC100620238 zinc finger protein 454 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,491,750...79,549,974
Ensembl chr 2:79,512,767...79,549,925
Ensembl chr 2:79,512,767...79,549,925 		JBrowse link
G LTC4S leukotriene C4 synthase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,799,446...78,802,281
Ensembl chr 2:78,799,449...78,802,285 		JBrowse link
G MAML1 mastermind like transcriptional coactivator 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,818,658...78,876,633
Ensembl chr 2:78,818,411...78,876,615 		JBrowse link
G MGAT4B alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,783,775...78,798,425
Ensembl chr 2:78,783,785...78,798,423 		JBrowse link
G MXD3 MAX dimerization protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,636,778...80,641,346
Ensembl chr 2:80,637,323...80,641,950 		JBrowse link
G N4BP3 NEDD4 binding protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,251,234...80,263,905
Ensembl chr 2:80,251,238...80,263,918 		JBrowse link
G NHP2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,223,439...80,227,614 JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,379...80,809,059 		JBrowse link
G PDLIM7 PDZ and LIM domain 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,453,013...80,472,660
Ensembl chr 2:80,452,706...80,472,658 		JBrowse link
G PFN3 profilin 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,545,495...80,546,524
Ensembl chr 2:80,546,048...80,546,497 		JBrowse link
G PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,142,273...80,188,753
Ensembl chr 2:80,142,033...80,191,957 		JBrowse link
G PRELID1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,641,844...80,646,390
Ensembl chr 2:80,641,845...80,653,670 		JBrowse link
G PROP1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,627,466...79,631,270
Ensembl chr 2:79,627,603...79,631,270 		JBrowse link
G PRR7 proline rich 7, synaptic ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,496,105...80,508,825
Ensembl chr 2:80,496,106...80,505,430 		JBrowse link
G RAB24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,646,426...80,651,498 JBrowse link
G RGS14 regulator of G protein signaling 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,574,411...80,589,998
Ensembl chr 2:80,574,415...80,590,003 		JBrowse link
G RMND5B required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,226,047...80,247,358
Ensembl chr 2:80,225,496...80,246,945 		JBrowse link
G RNF44 ring finger protein 44 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,372,427...81,390,232
Ensembl chr 2:81,378,725...81,390,230 		JBrowse link
G RUFY1 RUN and FYVE domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,974,361...79,021,677
Ensembl chr 2:78,963,989...79,021,574 		JBrowse link
G SIMC1 SUMO interacting motifs containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,539,713...81,613,705
Ensembl chr 2:81,539,712...81,613,703 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321 		JBrowse link
G SNCB synuclein beta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,287,764...81,302,859
Ensembl chr 2:81,287,759...81,302,861 		JBrowse link
G SQSTM1 sequestosome 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,752,768...78,763,998
Ensembl chr 2:78,752,771...78,763,938 		JBrowse link
G THOC3 THO complex subunit 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,658,736...81,670,996
Ensembl chr 2:81,658,788...81,670,127 		JBrowse link
G TMED9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,364,532...80,368,434
Ensembl chr 2:80,364,769...80,368,589 		JBrowse link
G TSPAN17 tetraspanin 17 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,256,989...81,276,638
Ensembl chr 2:81,260,281...81,276,636 		JBrowse link
G UIMC1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,895,631...81,040,712
Ensembl chr 2:80,929,267...81,036,448 		JBrowse link
G UNC5A unc-5 netrin receptor A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,061,096...81,126,191
Ensembl chr 2:81,060,803...81,126,196 		JBrowse link
G ZNF346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,871,576...80,895,592
Ensembl chr 2:80,871,595...80,895,585 		JBrowse link
G ZNF354A zinc finger protein 354A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,670,436...79,690,546
Ensembl chr 2:79,670,479...79,690,537 		JBrowse link
G ZNF354B zinc finger protein 354B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,579,737...79,602,080
Ensembl chr 2:79,579,753...79,601,137 		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 ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type ClinVar PMID:25741868 PMID:25758994 PMID:26854089 PMID:28087566 PMID:28492532 More... NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:28492532
G TNXB tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:25326637 PMID:25741868 NCBI chr 7:24,088,873...24,155,815
Ensembl chr 7:24,088,873...24,150,596 		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 CLCN6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 6:71,881,912...71,915,016
Ensembl chr 6:71,881,972...71,916,029 		JBrowse link
G KIAA2013 KIAA2013 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 6:71,976,011...71,981,674
Ensembl chr 6:71,976,019...71,981,673 		JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G NPPA natriuretic peptide A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,918,845...71,921,405 		JBrowse link
G NPPB natriuretic peptide B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,930,382...71,932,254 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 | ClinVar Annotator: match by term: Nevo syndrome OMIM
ClinVar		 PMID:222849 PMID:416188 PMID:1345174 PMID:3110540 PMID:3931636 More... NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804 		JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 (Colton blood group) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,063,482...42,076,741
Ensembl chr18:42,063,485...42,076,746 		JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,251,755...42,296,457
Ensembl chr18:42,251,749...42,295,467 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 More... NCBI chr18:42,903,100...42,913,609
Ensembl chr18:42,903,100...42,913,609 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162 		JBrowse link
G GGCT gamma-glutamylcyclotransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,410,734...42,418,534
Ensembl chr18:42,410,792...42,418,980 		JBrowse link
G GHRHR growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,030,505...42,046,178
Ensembl chr18:42,030,510...42,046,184 		JBrowse link
G INMT indolethylamine N-methyltransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,213,335...42,218,175
Ensembl chr18:42,209,352...42,218,174 		JBrowse link
G MINDY4 MINDY lysine 48 deubiquitinase 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,096,351...42,202,511
Ensembl chr18:42,096,353...42,200,694 		JBrowse link
G MTURN maturin, neural progenitor differentiation regulator homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,767,452...42,802,109
Ensembl chr18:42,771,454...42,802,093 		JBrowse link
G NOD1 nucleotide binding oligomerization domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,464,667...42,509,135
Ensembl chr18:42,432,050...42,512,264 		JBrowse link
G PLEKHA8 pleckstrin homology domain containing A8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,841,085...42,901,203
Ensembl chr18:42,820,921...42,902,867 		JBrowse link
G ZNRF2 zinc and ring finger 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,550,571...42,651,914
Ensembl chr18:42,549,846...42,651,807 		JBrowse link
Ehlers-Danlos syndrome musculocontractural type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS | ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1 OMIM
ClinVar		 PMID:1184396 PMID:2202212 PMID:9084938 PMID:10766984 PMID:11370633 More... NCBI chr 1:130,845,103...130,847,203
Ensembl chr 1:130,845,835...130,846,965 		JBrowse link
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSE dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 OMIM
ClinVar		 PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 NCBI chr 1:81,996,894...82,063,847
Ensembl chr 1:81,934,679...82,062,982 		JBrowse link
Ehlers-Danlos syndrome periodontal type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1R complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 OMIM
ClinVar		 PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More... NCBI chr 5:63,644,097...63,655,149
Ensembl chr 5:63,643,374...63,655,143 		JBrowse link
G C1RL complement C1r subcomponent like ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 ClinVar PMID:25741868 PMID:27745832 NCBI chr 5:63,623,398...63,640,065
Ensembl chr 5:63,627,313...63,640,057 		JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 ClinVar PMID:27745832 NCBI chr 5:63,670,309...63,681,466
Ensembl chr 5:63,670,312...63,708,214 		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:25741868 More... NCBI chr 5:63,644,097...63,655,149
Ensembl chr 5:63,643,374...63,655,143 		JBrowse link
G C1RL complement C1r subcomponent like ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 ClinVar PMID:25741868 PMID:27745832 NCBI chr 5:63,623,398...63,640,065
Ensembl chr 5:63,627,313...63,640,057 		JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 OMIM
ClinVar		 PMID:25741868 PMID:27745832 PMID:28492532 NCBI chr 5:63,670,309...63,681,466
Ensembl chr 5:63,670,312...63,708,214 		JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1 OMIM
ClinVar		 PMID:1221956 PMID:1640425 PMID:9536098 PMID:15211654 PMID:17576681 More... NCBI chr 2:80,349,732...80,359,878
Ensembl chr 2:80,346,307...80,359,973 		JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,579,291...63,593,429
Ensembl chr 6:63,579,304...63,593,435 		JBrowse link
G ACTRT2 actin related protein T2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,664,484...64,665,774
Ensembl chr 6:64,664,641...64,665,774 		JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,366,017...63,398,311
Ensembl chr 6:63,365,983...63,398,309 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,678,757...63,686,409 JBrowse link
G ARHGEF16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,026,490...65,048,545
Ensembl chr 6:65,027,442...65,048,542 		JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,656,120...63,657,568
Ensembl chr 6:63,656,119...63,657,472 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 OMIM
ClinVar		 PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:23664117 More... NCBI chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2		 ClinVar PMID:1221956 PMID:1640425 PMID:3631078 PMID:9536098 PMID:10473568 More... NCBI chr 2:80,349,732...80,359,878
Ensembl chr 2:80,346,307...80,359,973 		JBrowse link
G C1QTNF12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,548,862...63,555,991
Ensembl chr 6:63,548,864...63,553,332 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,970,359...63,971,973 JBrowse link
G CCDC27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,242,725...65,254,879
Ensembl chr 6:65,242,602...65,255,727 		JBrowse link
G CCNL2 cyclin L2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,659,053...63,668,077
Ensembl chr 6:63,659,054...63,668,047 		JBrowse link
G CDK11 cyclin dependent kinase 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,804,914...63,819,960 JBrowse link
G CEP104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,274,092...65,310,735
Ensembl chr 6:65,274,488...65,310,669 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,976,011...64,038,899
Ensembl chr 6:63,976,346...64,024,562 		JBrowse link
G CLK4 CDC like kinase 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:79,729,460...79,752,945
Ensembl chr 2:79,693,669...79,753,712 		JBrowse link
G COL23A1 collagen type XXIII alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:79,766,260...80,141,296
Ensembl chr 2:79,766,150...80,141,293 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,607,991...63,612,325 JBrowse link
G DBN1 drebrin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,480,603...80,495,797
Ensembl chr 2:80,479,460...80,495,796 		JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,440,774...80,445,484
Ensembl chr 2:80,439,247...80,445,482 		JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,433,065...80,445,484
Ensembl chr 2:80,433,190...80,438,867 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,628,913 		JBrowse link
G EIF4E1B eukaryotic translation initiation factor 4E family member 1B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:81,277,086...81,281,668
Ensembl chr 2:81,277,952...81,281,453 		JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,527,451...80,544,835
Ensembl chr 2:80,527,446...80,544,828 		JBrowse link
G FAAP20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,160,760...64,169,663 JBrowse link
G FAM193B family with sequence similarity 193 member B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,396,371...80,430,074
Ensembl chr 2:80,396,371...80,430,071 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,841,536...80,853,791
Ensembl chr 2:80,841,536...80,853,796 		JBrowse link
G FNDC10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,762,059...63,765,483
Ensembl chr 6:63,764,815...63,765,483 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,049,665...64,059,644
Ensembl chr 6:64,049,675...64,059,640 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505 		JBrowse link
G GRK6 G protein-coupled receptor kinase 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,496,105...80,527,208
Ensembl chr 2:80,508,979...80,527,210 		JBrowse link
G GRM6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:79,466,899...79,480,562
Ensembl chr 2:79,466,779...79,479,146 		JBrowse link
G HES4 hes family bHLH transcription factor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,351,593...63,356,690
Ensembl chr 6:63,351,602...63,356,466 		JBrowse link
G HES5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,409,110...64,410,541
Ensembl chr 6:64,408,956...64,410,881 		JBrowse link
G HK3 hexokinase 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:81,042,401...81,060,832
Ensembl chr 2:81,042,755...81,060,826 		JBrowse link
G HNRNPAB heterogeneous nuclear ribonucleoprotein A/B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,186,998...80,194,155 JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,596,809...63,607,915
Ensembl chr 6:63,596,803...63,607,921 		JBrowse link
G ISG15 ISG15 ubiquitin like modifier ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,363,201...63,364,211
Ensembl chr 6:63,363,173...63,364,208 		JBrowse link
G KLHL17 kelch like family member 17 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,320,898...63,328,093
Ensembl chr 6:63,322,184...63,328,259 		JBrowse link
G LMAN2 lectin, mannose binding 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,595,064...80,636,168
Ensembl chr 2:80,595,334...80,609,594 		JBrowse link
G LOC100525876 ATPase family AAA domain-containing protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,706,155...63,721,574
Ensembl chr 6:63,701,460...63,721,573 		JBrowse link
G LOC100620238 zinc finger protein 454 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:79,491,750...79,549,974
Ensembl chr 2:79,512,767...79,549,925
Ensembl chr 2:79,512,767...79,549,925 		JBrowse link
G LOC100624218 MORN repeat-containing protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,266,184...64,300,980
Ensembl chr 6:64,253,268...64,300,897 		JBrowse link
G LRRC47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,261,990...65,271,745
Ensembl chr 6:65,260,793...65,271,729 		JBrowse link
G MEGF6 multiple EGF like domains 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,055,533...65,141,449
Ensembl chr 6:65,053,389...65,141,380 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,787,200...63,800,425
Ensembl chr 6:63,787,201...63,800,423 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,436,778...64,470,888
Ensembl chr 6:64,436,642...64,472,759 		JBrowse link
G MMP23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,801,668...63,804,275
Ensembl chr 6:63,801,965...63,805,046 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,670,750...63,675,834
Ensembl chr 6:63,670,755...63,675,839 		JBrowse link
G MXD3 MAX dimerization protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,636,778...80,641,346
Ensembl chr 2:80,637,323...80,641,950 		JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,630,936...63,635,623
Ensembl chr 6:63,630,938...63,635,456 		JBrowse link
G N4BP3 NEDD4 binding protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,251,234...80,263,905
Ensembl chr 2:80,251,238...80,263,918 		JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,846,650...63,864,137
Ensembl chr 6:63,846,655...63,863,946 		JBrowse link
G NHP2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,223,439...80,227,614 JBrowse link
G NOC2L NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,307,703...63,320,799
Ensembl chr 6:63,307,695...63,335,201 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,379...80,809,059 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,393,092...64,407,443
Ensembl chr 6:64,393,102...64,407,448 		JBrowse link
G PDLIM7 PDZ and LIM domain 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,453,013...80,472,660
Ensembl chr 2:80,452,706...80,472,658 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2		 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,311,743...64,317,693 JBrowse link
G PFN3 profilin 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,545,495...80,546,524
Ensembl chr 2:80,546,048...80,546,497 		JBrowse link
G PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,142,273...80,188,753
Ensembl chr 2:80,142,033...80,191,957 		JBrowse link
G PLCH2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,325,918...64,392,070
Ensembl chr 6:64,325,952...64,392,068 		JBrowse link
G PLEKHN1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,328,054...63,336,140
Ensembl chr 6:63,328,605...63,336,138 		JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570 		JBrowse link
G PRELID1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,641,844...80,646,390
Ensembl chr 2:80,641,845...80,653,670 		JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,073,343...64,159,187
Ensembl chr 6:64,068,577...64,163,472 		JBrowse link
G PROP1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:79,627,466...79,631,270
Ensembl chr 2:79,627,603...79,631,270 		JBrowse link
G PRR7 proline rich 7, synaptic ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,496,105...80,508,825
Ensembl chr 2:80,496,106...80,505,430 		JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,432,187...64,435,328
Ensembl chr 6:64,432,148...64,435,320 		JBrowse link
G PUSL1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,593,539...63,596,921
Ensembl chr 6:63,593,959...63,599,019 		JBrowse link
G RAB24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,646,426...80,651,498 JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,301,139...64,311,526
Ensembl chr 6:64,301,199...64,311,783 		JBrowse link
G RGS14 regulator of G protein signaling 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,574,411...80,589,998
Ensembl chr 2:80,574,415...80,590,003 		JBrowse link
G RMND5B required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,226,047...80,247,358
Ensembl chr 2:80,225,496...80,246,945 		JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,413,080...63,445,277
Ensembl chr 6:63,413,086...63,414,357 		JBrowse link
G SAMD11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,287,449...63,308,231
Ensembl chr 6:63,287,713...63,308,482 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,568,171...63,578,623 JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,529,853...63,539,979
Ensembl chr 6:63,529,853...63,544,944 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321 		JBrowse link
G SLC35E2 solute carrier family 35 member E2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,820,804...63,842,400
Ensembl chr 6:63,820,812...63,835,561 		JBrowse link
G SMIM1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,255,792...65,259,129
Ensembl chr 6:65,255,823...65,259,126 		JBrowse link
G SNCB synuclein beta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:81,287,764...81,302,859
Ensembl chr 2:81,287,759...81,302,861 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,728,318...63,757,460
Ensembl chr 6:63,728,325...63,755,163 		JBrowse link
G TAS1R3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,613,536...63,617,831
Ensembl chr 6:63,607,990...63,617,809 		JBrowse link
G TMED9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,364,532...80,368,434
Ensembl chr 2:80,364,769...80,368,589 		JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,721,655...63,727,457
Ensembl chr 6:63,721,656...63,727,526 		JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,969,438...63,974,312
Ensembl chr 6:63,969,440...63,974,286 		JBrowse link
G TMEM88B transmembrane protein 88B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,686,542...63,689,298
Ensembl chr 6:63,686,546...63,688,456 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,804...63,526,666 		JBrowse link
G TP73 tumor protein p73 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990 		JBrowse link
G TPRG1L tumor protein p63 regulated 1 like ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,150,897...65,154,311
Ensembl chr 6:65,150,903...65,154,429 		JBrowse link
G TSPAN17 tetraspanin 17 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:81,256,989...81,276,638
Ensembl chr 2:81,260,281...81,276,636 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,478,117...64,499,034
Ensembl chr 6:64,478,408...64,499,986 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,494,759...63,513,884
Ensembl chr 6:63,497,597...63,511,918 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,556,134...63,568,080
Ensembl chr 6:63,555,488...63,568,017 		JBrowse link
G UIMC1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,895,631...81,040,712
Ensembl chr 2:80,929,267...81,036,448 		JBrowse link
G UNC5A unc-5 netrin receptor A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:81,061,096...81,126,191
Ensembl chr 2:81,060,803...81,126,196 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,695,195...63,700,296
Ensembl chr 6:63,694,979...63,700,287 		JBrowse link
G WRAP73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,155,201...65,167,091
Ensembl chr 6:65,155,209...65,167,079 		JBrowse link
G ZNF346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,871,576...80,895,592
Ensembl chr 2:80,871,595...80,895,585 		JBrowse link
G ZNF354A zinc finger protein 354A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:79,670,436...79,690,546
Ensembl chr 2:79,670,479...79,690,537 		JBrowse link
G ZNF354B zinc finger protein 354B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:79,579,737...79,602,080
Ensembl chr 2:79,579,753...79,601,137 		JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC39A13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18513683 PMID:18985159 PMID:24033266 More... NCBI chr 2:15,194,028...15,202,936
Ensembl chr 2:15,194,017...15,210,425 		JBrowse link
Ehlers-Danlos Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:1352273 PMID:1357232 PMID:1370809 PMID:1496983 PMID:1556139 More... NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532 NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr15:94,140,635...94,161,793
Ensembl chr15:94,141,988...94,167,408 		JBrowse link
G WDR75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr15:93,981,054...94,026,479
Ensembl chr15:93,981,215...94,026,707 		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 ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica | ClinVar Annotator: match by term: Hallopeau-Siemens Disease
DNA:insertion-deletion		 OMIM
ClinVar
RGD		 PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7833933 More... RGD:1600946 NCBI chr13:31,262,750...31,295,112 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690 		JBrowse link
G MMP1 matrix metallopeptidase 1 severity ISO ClinVar Annotator: match by term: Hallopeau-Siemens Disease
DNA:insertion:promoter:g.-1607_-1606insG (human)		 OMIM
ClinVar
RGD		 PMID:18030675 PMID:25741868 PMID:28492532 RGD:8549728 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		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:7695699 PMID:8218237 PMID:8755915 PMID:9536098 PMID:9804332 More... NCBI chr13:31,262,750...31,295,112 JBrowse link
Epidermolysis Bullosa Pruriginosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive OMIM
ClinVar		 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8755915 More... NCBI chr13:31,262,750...31,295,112 JBrowse link
epidermolysis bullosa with congenital localized absence of skin and deformity of nails term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE OMIM
ClinVar		 PMID:2425097 PMID:5910871 PMID:7695699 PMID:7833933 PMID:8088783 More... NCBI chr13:31,262,750...31,295,112 JBrowse link
Familial Cutaneous Collagenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LEMD3 LEM domain containing 3 ISO DNA:transition mutation:intron: 1522+1G>A(human) RGD PMID:17223882 RGD:11553841 NCBI chr 5:29,596,334...29,672,704
Ensembl chr 5:29,596,334...29,673,875 		JBrowse link
gnathodiaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions OMIM
ClinVar		 PMID:3530687 PMID:5816667 PMID:9536098 PMID:9673985 PMID:15124103 More... NCBI chr 2:37,171,402...37,256,204
Ensembl chr 2:37,171,412...37,255,489 		JBrowse link
Keloid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTRT2 actin related protein T2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 6:64,664,484...64,665,774
Ensembl chr 6:64,664,641...64,665,774 		JBrowse link
G AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chr15:37,801,121...37,853,472
Ensembl chr15:37,801,183...37,853,468 		JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696 		JBrowse link
G ARHGDIA Rho GDP dissociation inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr12:1,113,358...1,117,319
Ensembl chr12:1,113,379...1,119,315 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28492532 PMID:28905881 NCBI chr17:5,712,048...5,749,811
Ensembl chr17:5,712,058...5,758,821 		JBrowse link
G ASPN asporin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 3:42,165,553...42,192,902
Ensembl chr 3:42,165,561...42,192,813 		JBrowse link
G CAPG capping actin protein, gelsolin like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 3:59,335,483...59,366,855
Ensembl chr 3:59,339,966...59,366,846 		JBrowse link
G CLIC1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 7:23,842,829...23,851,162 JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111 		JBrowse link
G CRABP1 cellular retinoic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 7:47,602,316...47,608,865
Ensembl chr 7:47,602,192...47,608,970 		JBrowse link
G EIF5A eukaryotic translation initiation factor 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr12:52,659,040...52,664,686 JBrowse link
G FGG fibrinogen gamma chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 8:74,553,040...74,562,151
Ensembl chr 8:74,553,105...74,563,688 		JBrowse link
G FOXL2 forkhead box L2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chr13:79,708,693...79,709,825
Ensembl chr13:79,708,693...79,709,825 		JBrowse link
G FTH1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:9,535,051...9,537,979 JBrowse link
G FTL ferritin light chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 6:54,231,121...54,232,756
Ensembl chr 6:54,231,172...54,232,750 		JBrowse link
G HBB hemoglobin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:4,800,683...4,801,941
Ensembl chr 9:4,800,293...4,802,364 		JBrowse link
G LGALS1 galectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 5:10,149,069...10,152,514
Ensembl chr 5:10,149,068...10,156,023 		JBrowse link
G MCT7 tryptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 3:40,616,642...40,619,148 JBrowse link
G MIF macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068 		JBrowse link
G MYDGF myeloid derived growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:74,185,042...74,202,306
Ensembl chr 2:74,185,060...74,202,301 		JBrowse link
G MYL6B myosin light chain 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 5:21,554,351...21,558,995
Ensembl chr 5:21,556,061...21,558,758 		JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chr 1:115,941,945...116,069,884
Ensembl chr 1:115,941,940...116,070,305 		JBrowse link
G PFN1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr12:51,962,642...51,965,570
Ensembl chr12:51,961,952...51,965,464 		JBrowse link
G PRDX1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 6:165,847,390...165,859,918
Ensembl chr 6:165,824,395...165,861,442 		JBrowse link
G PRDX2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:66,207,829...66,211,474
Ensembl chr 2:66,207,828...66,212,009 		JBrowse link
G RAN RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr14:24,312,810...24,318,024
Ensembl chr14:24,311,577...24,317,789 		JBrowse link
G S100A10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 4:97,261,752...97,272,517
Ensembl chr 4:97,261,815...97,272,513 		JBrowse link
G S100A4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 4:96,088,102...96,091,160
Ensembl chr 4:96,088,201...96,091,156 		JBrowse link
G S100A8 S100 calcium binding protein A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 4:96,209,670...96,210,603
Ensembl chr 4:96,209,659...96,210,602 		JBrowse link
G S100A9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 4:96,236,114...96,238,989 JBrowse link
G SERPINB5 serpin family B member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:158,167,756...158,195,896
Ensembl chr 1:158,167,646...158,195,796 		JBrowse link
G SERPINF1 serpin family F member 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:skin of body (human)		 CTD
RGD		 PMID:20128793 RGD:27226709 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470 		JBrowse link
G SFN stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 6:84,188,521...84,189,824
Ensembl chr 6:84,188,445...84,189,827 		JBrowse link
G TAGLN transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:44,561,756...44,567,385
Ensembl chr 9:44,560,785...44,567,385 		JBrowse link
G TPM1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035 		JBrowse link
Kniest dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Kniest dysplasia OMIM
ClinVar		 PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 More... NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718 		JBrowse link
limited scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV1 caveolin 1 no_association
susceptibility		 ISO DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human)
DNA:SNPs:enhancer, intron:multiple		 RGD PMID:22402147 RGD:8661768 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:17102953 RGD:12903974 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FASLG Fas ligand ISO RGD PMID:17102953 RGD:12903974 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464 		JBrowse link
G IL2 interleukin 2 susceptibility ISO DNA:polymorphism::-384T>G(human) RGD PMID:17444587 RGD:4142872 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:20808962 RGD:4892610 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148 		JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		JBrowse link
G PGF placental growth factor ISO protein:increased expression:plasma RGD PMID:22461185 RGD:6483571 NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741 		JBrowse link
G SERPINE1 serpin family E member 1 ISO mRNA,protein:increased expression:skin: RGD PMID:15730388 RGD:13208597 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility
no_association		 ISO DNA:SNP:intron: (rs7574865) (human)
DNA:SNPs:introns: (rs10168266, rs3821236) (human)		 RGD PMID:19286670 PMID:23755762 RGD:8661701 RGD:8661714 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,045,685...25,056,300 		JBrowse link
Lipodermatosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain ISO mRNA:increased expression:dermis RGD PMID:15727634 RGD:5688298 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
localized scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A ISO mRNA,protein:increased expression:skin: RGD PMID:15803328 RGD:8662838 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15863969 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753 		JBrowse link
G HGF hepatocyte growth factor treatment ISO RGD PMID:14712301 RGD:8548627 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:7916356 RGD:8158116 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G IL13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12920362 RGD:8549537 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093 		JBrowse link
G LMNA lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15726408 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:9804345 RGD:1582543 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO RGD PMID:7510487 RGD:7394847 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9843018 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
mixed connective tissue disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAS Fas cell surface death receptor ISO protein:increased expression:serum (human) RGD PMID:9182923 RGD:8662437 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FBN1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G IFNG interferon gamma ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 ISO RGD PMID:2968364 RGD:10448928 NCBI chr17:33,072,104...33,094,847
Ensembl chr17:33,080,407...33,094,602 		JBrowse link
G SNRPC small nuclear ribonucleoprotein polypeptide C ISO associated with Hypertension, Pulmonary RGD PMID:10555891 RGD:10766447 NCBI chr 7:30,708,243...30,723,480
Ensembl chr 7:30,708,332...30,724,045 		JBrowse link
G TLR3 toll like receptor 3 ISO RGD PMID:16453294 RGD:5129221 NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
occipital horn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: EDS IX | ClinVar Annotator: match by term: Occipital horn syndrome OMIM
ClinVar		 PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006 PMID:10319589 More... NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048 		JBrowse link
osteogenesis imperfecta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR2B activin A receptor type 2B treatment ISO RGD PMID:31419601 RGD:329853752 NCBI chr13:23,237,699...23,276,086
Ensembl chr13:23,237,699...23,267,373 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:1409720 PMID:8406453 PMID:8954059 PMID:9618260 PMID:9781036 More... NCBI chr 6:79,589,695...79,649,646
Ensembl chr 6:79,589,045...79,649,644 		JBrowse link
G BMP1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta		 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30719581 NCBI chr14:6,443,773...6,489,066
Ensembl chr14:6,443,912...6,489,063 		JBrowse link
G COL1A1 collagen type I alpha 1 chain severity
treatment		 ISO DNA:mutation:exon:c.3235G>A(p.G1079S)(human)
ClinVar Annotator: match by term: Lobstein disease | 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: Osteogenesis imperfecta
ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta		 RGD
ClinVar		 PMID:1137656 PMID:1634225 PMID:1718984 PMID:1737847 PMID:2037280 More... RGD:11571620 RGD:329853752 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
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 | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild		 ClinVar PMID:458828 PMID:1978725 PMID:1990009 PMID:2010058 PMID:2824475 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
G CRTAP cartilage associated protein ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:16199547 PMID:17055431 PMID:17192541 PMID:18996919 PMID:19550437 More... NCBI chr13:18,994,371...19,040,297
Ensembl chr13:18,995,234...19,035,720 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:9481655 PMID:9536098 PMID:9927692 PMID:17576681 PMID:20839288 More... NCBI chr12:20,872,155...20,881,604
Ensembl chr12:20,872,158...20,882,644 		JBrowse link
G IFITM5 interferon induced transmembrane protein 5 ISO ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chr 2:107,035...109,116
Ensembl chr 2:107,042...108,460 		JBrowse link
G LRP5 LDL receptor related protein 5 treatment ISO ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta		 RGD
ClinVar		 PMID:11719191 PMID:11793484 PMID:12579474 PMID:14727154 PMID:15024691 More... RGD:12792279 NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,614...4,653,944 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:18,013,360...18,054,250 JBrowse link
G P3H1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:3545499 PMID:9536098 PMID:16199547 PMID:17277775 PMID:17576681 More... NCBI chr 6:168,668,275...168,687,832
Ensembl chr 6:168,668,311...168,687,829 		JBrowse link
G PGGHG protein-glucosylgalactosylhydroxylysine glucosidase ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chr 2:99,254...104,898
Ensembl chr 2:99,271...106,991 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:22689593 PMID:25086671 PMID:25238597 PMID:25741868 PMID:28492532 More... NCBI chr13:86,402,673...86,513,167
Ensembl chr13:86,401,244...86,513,105 		JBrowse link
G PLS3 plastin 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:24088043 PMID:25741868 PMID:28492532 NCBI chr  X:94,885,098...94,971,664
Ensembl chr  X:94,885,118...94,971,659 		JBrowse link
G PPIB peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:19781681 PMID:21239989 PMID:21282188 PMID:25741868 PMID:27509835 More... NCBI chr 1:107,886,663...107,893,155
Ensembl chr 1:107,886,658...107,893,253 		JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha ISO ClinVar Annotator: match by term: Lobstein disease ClinVar PMID:25741868 PMID:25944380 PMID:28492532 PMID:29100083 PMID:31531803 More... NCBI chr 6:57,929,520...57,964,948
Ensembl chr 6:57,921,329...57,964,961 		JBrowse link
G SERPINF1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 PMID:28116328 PMID:28492532 PMID:29150909 PMID:29807018 More... NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470 		JBrowse link
G SERPINH1 serpin family H member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:9,782,939...9,794,485
Ensembl chr 9:9,783,042...9,794,483 		JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095 		JBrowse link
G SMAD4 SMAD family member 4 ISO MouseDO NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029 		JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 ISO MouseDO NCBI chr 6:28,938,287...29,025,397
Ensembl chr 6:28,938,290...29,025,357 		JBrowse link
G SNX22 sorting nexin 22 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:19781681 PMID:25741868 PMID:28242392 PMID:28492532 PMID:32392875 More... NCBI chr 1:107,891,698...107,897,561
Ensembl chr 1:107,891,699...107,897,529 		JBrowse link
G SP7 Sp7 transcription factor ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:18,541,368...18,566,668
Ensembl chr 5:18,543,534...18,565,776 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,586...71,381,161 		JBrowse link
G TMEM38B transmembrane protein 38B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:24835313 PMID:25741868 PMID:27441836 PMID:28492532 PMID:32123938 NCBI chr 1:246,973,447...247,024,019
Ensembl chr 1:246,973,436...247,027,527 		JBrowse link
G WNT1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:23434763 PMID:23499309 PMID:23499310 PMID:25741868 PMID:27450065 More... NCBI chr 5:15,010,607...15,015,007
Ensembl chr 5:15,010,786...15,014,998 		JBrowse link
G XYLT2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:16571645 PMID:25741868 PMID:28492532 NCBI chr12:26,640,802...26,656,809
Ensembl chr12:26,640,899...26,663,520 		JBrowse link
osteogenesis imperfecta type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSF2 acyl-CoA synthetase family member 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr12:26,713,790...26,752,352
Ensembl chr12:26,713,785...26,761,140 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I		 OMIM
ClinVar		 PMID:1445258 PMID:1460046 PMID:1634225 PMID:1718984 PMID:1737847 More... NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta tarda | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth ClinVar PMID:458828 PMID:1634225 PMID:1642148 PMID:1978725 PMID:1990009 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
G DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:26478226 More... NCBI chr12:26,177,896...26,183,172
Ensembl chr12:26,177,903...26,183,157 		JBrowse link
G EME1 essential meiotic structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr12:26,670,126...26,680,097
Ensembl chr12:26,670,176...26,680,601 		JBrowse link
G ITGA3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr12:26,234,769...26,269,327
Ensembl chr12:26,235,258...26,269,324 		JBrowse link
G LRRC59 leucine rich repeat containing 59 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr12:26,678,207...26,694,277
Ensembl chr12:26,677,226...26,694,279 		JBrowse link
G MRPL27 mitochondrial ribosomal protein L27 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr12:26,663,884...26,670,167
Ensembl chr12:26,663,595...26,664,984 		JBrowse link
G PDK2 pyruvate dehydrogenase kinase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr12:26,274,562...26,295,787
Ensembl chr12:26,274,606...26,301,878 		JBrowse link
G PPP1R9B protein phosphatase 1 regulatory subunit 9B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr12:26,319,123...26,337,089
Ensembl chr12:26,319,124...26,336,562 		JBrowse link
G SAMD14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr12:26,295,159...26,315,548
Ensembl chr12:26,296,016...26,315,422 		JBrowse link
G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7695699 PMID:7942841 PMID:8218237 PMID:9016532 PMID:9295084 More... NCBI chr12:26,356,691...26,368,561
Ensembl chr12:26,356,777...26,371,600 		JBrowse link
G TMEM92 transmembrane protein 92 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr12:26,466,613...26,472,865
Ensembl chr12:26,452,882...26,472,864 		JBrowse link
G XYLT2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr12:26,640,802...26,656,809
Ensembl chr12:26,640,899...26,663,520 		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 susceptibility ISO ClinVar Annotator: match by term: OI, TYPE X | ClinVar Annotator: match by term: Osteogenesis imperfecta type 10 ClinVar
OMIM		 PMID:20188343 PMID:25510505 PMID:25741868 PMID:28492532 PMID:32161841 NCBI chr 9:9,782,939...9,794,485
Ensembl chr 9:9,783,042...9,794,483 		JBrowse link
osteogenesis imperfecta type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKBP10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: FKBP10-related condition | ClinVar Annotator: match by term: Osteogenesis imperfecta type 11 OMIM
ClinVar		 PMID:9129737 PMID:20362275 PMID:20696291 PMID:20839288 PMID:21567934 More... NCBI chr12:20,872,155...20,881,604
Ensembl chr12:20,872,158...20,882,644 		JBrowse link
osteogenesis imperfecta type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKBP10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 ClinVar PMID:20362275 PMID:20839288 PMID:21567934 PMID:22107750 PMID:22689593 More... NCBI chr12:20,872,155...20,881,604
Ensembl chr12:20,872,158...20,882,644 		JBrowse link
G SP7 Sp7 transcription factor ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 OMIM
ClinVar		 PMID:20579626 PMID:25741868 PMID:28492532 PMID:29382611 NCBI chr 5:18,541,368...18,566,668
Ensembl chr 5:18,543,534...18,565,776 		JBrowse link
osteogenesis imperfecta type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: BMP1-related condition | ClinVar Annotator: match by term: Osteogenesis imperfecta type 13 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii OMIM
ClinVar		 PMID:9536098 PMID:15542026 PMID:17576681 PMID:22052668 PMID:22482805 More... NCBI chr14:6,443,773...6,489,066
Ensembl chr14:6,443,912...6,489,063 		JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii ClinVar NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095 		JBrowse link
osteogenesis imperfecta type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM38B transmembrane protein 38B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 14 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiv OMIM
ClinVar		 PMID:17611541 PMID:23054245 PMID:25741868 PMID:26911354 PMID:28492532 NCBI chr 1:246,973,447...247,024,019
Ensembl chr 1:246,973,436...247,027,527 		JBrowse link
osteogenesis imperfecta type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 15 ClinVar PMID:25741868 NCBI chr13:173,634,401...173,909,646
Ensembl chr13:173,634,454...173,914,756 		JBrowse link
G WNT1 Wnt family member 1 susceptibility ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 15 | ClinVar Annotator: match by term: WNT1-related condition ClinVar
OMIM		 PMID:22653731 PMID:23434763 PMID:23499309 PMID:23499310 PMID:23656646 More... NCBI chr 5:15,010,607...15,015,007
Ensembl chr 5:15,010,786...15,014,998 		JBrowse link
osteogenesis imperfecta type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CREB3L1 cAMP responsive element binding protein 3 like 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 16 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29936144 PMID:30657919 NCBI chr 2:16,186,206...16,220,948
Ensembl chr 2:16,186,206...16,220,940 		JBrowse link
osteogenesis imperfecta type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPARC secreted protein acidic and cysteine rich ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 17 OMIM
ClinVar		 PMID:25741868 PMID:25741913 PMID:25741914 PMID:26027498 PMID:28492532 NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,586...71,381,161 		JBrowse link
osteogenesis imperfecta type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TENT5A terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type 18 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29358272 NCBI chr 1:84,545,033...84,552,138
Ensembl chr 1:84,545,202...84,552,134 		JBrowse link
osteogenesis imperfecta type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type 19 OMIM
ClinVar		 PMID:25741868 PMID:27380894 NCBI chr  X:18,013,360...18,054,250 JBrowse link
osteogenesis imperfecta type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2A | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta OMIM
ClinVar		 PMID:1511982 PMID:1613761 PMID:1864604 PMID:1874719 PMID:2035536 More... NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta OMIM
ClinVar		 PMID:1301191 PMID:1385413 PMID:1711048 PMID:1874719 PMID:2777764 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 ISO OMIM:166210 MouseDO NCBI chr 6:28,938,287...29,025,397
Ensembl chr 6:28,938,290...29,025,357 		JBrowse link
osteogenesis imperfecta type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MESD mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type 20 OMIM
ClinVar		 PMID:28492532 PMID:31564437 PMID:33596325 NCBI chr 7:49,807,309...49,817,725
Ensembl chr 7:49,807,125...49,817,658 		JBrowse link
osteogenesis imperfecta type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type 21 OMIM
ClinVar		 PMID:25741868 PMID:33053334 PMID:33964184 NCBI chr 3:4,716,651...4,735,303
Ensembl chr 3:4,716,646...4,735,300 		JBrowse link
osteogenesis imperfecta type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type XXII OMIM
ClinVar		 PMID:25741868 PMID:32181939 PMID:34204301 PMID:35019224 NCBI chr 5:6,785,957...6,800,816
Ensembl chr 5:6,785,947...6,799,913 		JBrowse link
osteogenesis imperfecta type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHLDB1 pleckstrin homology like domain family B member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type 23 ClinVar
OMIM		 PMID:36543534 NCBI chr 9:45,902,099...45,949,415
Ensembl chr 9:45,902,155...45,949,415 		JBrowse link
osteogenesis imperfecta type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC ClinVar PMID:1613761 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
osteogenesis imperfecta type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr14:6,443,773...6,489,066
Ensembl chr14:6,443,912...6,489,063 		JBrowse link
G CCDC134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Severe progressive deforming recessive osteogenesis imperfecta (type III) ClinVar PMID:25741868 PMID:32181939 PMID:34204301 PMID:35019224 NCBI chr 5:6,785,957...6,800,816
Ensembl chr 5:6,785,947...6,799,913 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OI type III | ClinVar Annotator: match by term: Osteogenesis imperfecta type III | ClinVar Annotator: match by term: Osteogenesis imperfecta, type III/IV OMIM
ClinVar		 PMID:1445258 PMID:1770532 PMID:2037280 PMID:2511192 PMID:2542316 More... NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI type III | ClinVar Annotator: match by term: Osteogenesis imperfecta type III OMIM
ClinVar		 PMID:2052622 PMID:2064612 PMID:2824475 PMID:3023615 PMID:3995789 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr12:20,872,155...20,881,604
Ensembl chr12:20,872,158...20,882,644 		JBrowse link
G P3H1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:22615817 PMID:25741868 PMID:27864101 PMID:28492532 PMID:32770541 NCBI chr 6:168,668,275...168,687,832
Ensembl chr 6:168,668,311...168,687,829 		JBrowse link
G SERPINF1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 PMID:28492532 PMID:32770541 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470 		JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 ISO OMIM:259420 MouseDO NCBI chr 6:28,938,287...29,025,397
Ensembl chr 6:28,938,290...29,025,357 		JBrowse link
G WNT1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 PMID:28492532 PMID:30715774 PMID:32770541 NCBI chr 5:15,010,607...15,015,007
Ensembl chr 5:15,010,786...15,014,998 		JBrowse link
osteogenesis imperfecta type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 4 ClinVar PMID:22924536 PMID:24431296 PMID:24523486 PMID:24793181 PMID:25741868 More... NCBI chr 6:49,905,851...49,927,437
Ensembl chr 6:49,905,847...49,927,633 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OI type IV | ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV | ClinVar Annotator: match by term: Osteogenesis imperfecta type 4 OMIM
ClinVar		 PMID:1718984 PMID:2037280 PMID:2542316 PMID:2745420 PMID:2794057 More... NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI type IV | ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV | ClinVar Annotator: match by term: Osteogenesis imperfecta type 4 OMIM
ClinVar		 PMID:2064612 PMID:2897363 PMID:4795106 PMID:7695699 PMID:7860070 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
osteogenesis imperfecta type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFITM5 interferon induced transmembrane protein 5 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 5 OMIM
ClinVar		 PMID:22863190 PMID:22863195 PMID:23977282 PMID:24478195 PMID:24519609 More... NCBI chr 2:107,035...109,116
Ensembl chr 2:107,042...108,460 		JBrowse link
G PGGHG protein-glucosylgalactosylhydroxylysine glucosidase ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 5 ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chr 2:99,254...104,898
Ensembl chr 2:99,271...106,991 		JBrowse link
G SUCO SUN domain containing ossification factor ISO OMIM:610967 MouseDO NCBI chr 9:114,916,957...115,007,979
Ensembl chr 9:114,916,855...115,007,972 		JBrowse link
osteogenesis imperfecta type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINF1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 6 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type VI OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21353196 PMID:21826736 PMID:23054245 More... NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470 		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 ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 OMIM
ClinVar		 PMID:9536098 PMID:12110406 PMID:16199547 PMID:17055431 PMID:17192541 More... NCBI chr13:18,994,371...19,040,297
Ensembl chr13:18,995,234...19,035,720 		JBrowse link
G GLB1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146 		JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr13:18,972,108...18,978,908
Ensembl chr13:18,969,682...18,978,997 		JBrowse link
osteogenesis imperfecta type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3H1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: OI type VIII | ClinVar Annotator: match by term: Osteogenesis imperfecta type 8 OMIM
ClinVar		 PMID:3545499 PMID:9536098 PMID:16199547 PMID:17277775 PMID:17576681 More... NCBI chr 6:168,668,275...168,687,832
Ensembl chr 6:168,668,311...168,687,829 		JBrowse link
osteogenesis imperfecta type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPIB peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 9 | ClinVar Annotator: match by term: PPIB-related condition OMIM
ClinVar		 PMID:19781681 PMID:20089953 PMID:20484404 PMID:21239989 PMID:21282188 More... NCBI chr 1:107,886,663...107,893,155
Ensembl chr 1:107,886,658...107,893,253 		JBrowse link
G SNX22 sorting nexin 22 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 9 | ClinVar Annotator: match by term: PPIB-related condition ClinVar PMID:19781681 PMID:25741868 PMID:28492532 PMID:29620724 NCBI chr 1:107,891,698...107,897,561
Ensembl chr 1:107,891,699...107,897,529 		JBrowse link
osteoporosis-pseudoglioma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Osteoporosis with pseudoglioma | ClinVar Annotator: match by term: Pseudoglioma with bone fragility OMIM
ClinVar		 PMID:9536098 PMID:11719191 PMID:11793484 PMID:12579474 PMID:14727154 More... NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,614...4,653,944 		JBrowse link
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome OMIM
ClinVar		 PMID:2049575 PMID:2235526 PMID:7695699 PMID:8218237 PMID:9050868 More... NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
polymyalgia rheumatica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRH corticotropin releasing hormone no_association ISO DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr 4:68,481,696...68,486,122
Ensembl chr 4:68,484,053...68,486,121 		JBrowse link
G CRP C-reactive protein, pentraxin-related treatment ISO RGD PMID:2859021 RGD:9495925 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218 		JBrowse link
G HFE homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30657865 RGD:14746966 NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000 		JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:plasma, endothelial microparticle (human) RGD PMID:22211720 RGD:6771319 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293 		JBrowse link
pretibial dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive | ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Pretibial epidermolysis bullosa OMIM
ClinVar		 PMID:7695699 PMID:7833933 PMID:7861014 PMID:8088783 PMID:8218237 More... NCBI chr13:31,262,750...31,295,112 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: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa ClinVar PMID:1050445 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7883979 More... NCBI chr13:31,262,750...31,295,112 JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISO OMIM:226600 MouseDO NCBI chr 5:30,697,018...31,175,412
Ensembl chr 5:30,697,040...31,020,901 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
Reynolds Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor ISO ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome OMIM
ClinVar		 PMID:18382993 PMID:20522425 PMID:24033266 PMID:25348816 PMID:25741868 More... NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759 		JBrowse link
scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC39A13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Scleroderma ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:15,194,028...15,202,936
Ensembl chr 2:15,194,017...15,210,425 		JBrowse link
Sclerotylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 ISO ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities OMIM
ClinVar		 PMID:4298032 PMID:8731679 PMID:10631162 PMID:24909267 PMID:25741868 More... NCBI chr 8:125,410,221...125,488,471
Ensembl chr 8:125,409,507...125,488,153 		JBrowse link
systemic scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO protein:decreased expression:plasma RGD PMID:17360781 RGD:8548889 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713 		JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO protein:decreased expression:plasma (human) RGD PMID:12935979 RGD:10449040 NCBI chr 1:273,022,014...273,066,916
Ensembl chr 1:273,024,009...273,056,039 		JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO protein:increased expression:serum RGD PMID:18825489 RGD:8695973 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162 		JBrowse link
G AGT angiotensinogen ISO protein:decreased expression:plasma RGD PMID:17360781 RGD:8548889 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833 		JBrowse link
G ANXA5 annexin A5 severity ISO RGD PMID:21124692 RGD:7242029 NCBI chr 8:102,387,833...102,420,868
Ensembl chr 8:102,388,103...102,425,750 		JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 ISO protein:increased expression:saliva (human) RGD PMID:17722226 RGD:11049167 NCBI chr15:120,297,122...120,328,795
Ensembl chr15:120,297,025...120,328,542 		JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNPs: :rs10516487,rs17266594(human) RGD PMID:19815934 RGD:9684975 NCBI chr 8:118,814,352...119,114,973
Ensembl chr 8:118,814,061...119,157,504 		JBrowse link
G BDNF brain derived neurotrophic factor ISO protein:decreased expression:serum: RGD PMID:21085492 RGD:5144060 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765 		JBrowse link
G C3 complement C3 ISO protein:increased expression:plasma RGD PMID:2803327 RGD:7421518 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228 		JBrowse link
G CAV1 caveolin 1 susceptibility ISO DNA:SNPs:enhancer, intron: (rs7795356, rs926198, rs959173) (human)
protein:decreased expression:lung, skin		 RGD PMID:18759267 PMID:22402147 RGD:8661768 RGD:8661773 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 severity ISO protein:increased expression:serum
protein:increased expression:respiratory system fluid/secretion		 RGD PMID:19615053 PMID:21049277 PMID:21285114 RGD:4891453 RGD:5135284 RGD:5683876 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO mRNA:increased expression:skin RGD PMID:21742595 RGD:7483587 NCBI chr15:129,172,743...129,176,069 JBrowse link
G CCL3L1 chemokine (C-C motif) ligand 3-like 1 ISO protein:increased expression:serum RGD PMID:21285114 RGD:5683876 NCBI chr12:39,491,999...39,493,345
Ensembl chr12:39,491,914...39,493,774 		JBrowse link
G CCL4 C-C motif chemokine ligand 4 ISO protein:increased expression:serum RGD PMID:21285114 RGD:5683876 NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082 		JBrowse link
G CCN1 cellular communication network factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr 4:130,392,404...130,395,179
Ensembl chr 4:130,392,407...130,395,150 		JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:23142052 RGD:9479741 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G CCR6 C-C motif chemokine receptor 6 ISO mRNA:increased expression:skin RGD PMID:21742595 RGD:7483587 NCBI chr 1:2,016,600...2,034,172
Ensembl chr 1:2,018,608...2,019,821 		JBrowse link
G CD247 CD247 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr 4:83,494,266...83,586,887
Ensembl chr 4:83,494,395...83,586,647 		JBrowse link
G CD86 CD86 molecule ISO DNA:snp:5' utr:g.-3479T>G (human) RGD PMID:16790753 RGD:4892554 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310 		JBrowse link
G CFB complement factor B ISO protein:increased expression:plasma RGD PMID:2803327 RGD:7421518 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179 		JBrowse link
G CHI3L1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:16195162 RGD:4892666 NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131 		JBrowse link
G CLU clusterin ISO protein:increased expression:serum RGD PMID:22350181 RGD:8898558 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764 		JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27228633 NCBI chr 1:56,466,022...56,493,275
Ensembl chr 1:56,467,835...56,492,602 		JBrowse link
G CNR2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27228633 NCBI chr 6:81,659,162...81,692,550
Ensembl chr 6:81,659,169...81,692,550 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO RGD PMID:1697606 RGD:5688336 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO OMIM:181750 MouseDO NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G CP ceruloplasmin ISO protein:increased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chr13:89,396,713...89,463,540
Ensembl chr13:89,396,708...89,463,476 		JBrowse link
G CSF1 colony stimulating factor 1 ISO mRNA:increased expression:skin RGD PMID:22700848 RGD:7257593 NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,475...110,197,900 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:serum RGD PMID:15608300 RGD:4891898 NCBI chr 6:19,312,351...19,324,439 JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:lung, skin
DNA:polymorphisms: :p.V249I, p.T280M (human)		 RGD PMID:15608300 PMID:16584113 PMID:23142052 RGD:4891896 RGD:4891898 RGD:9479741 NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:serum RGD PMID:21049277 PMID:21303517 RGD:5135279 RGD:5135284 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948 		JBrowse link
G CXCL16 C-X-C motif chemokine ligand 16 ISO protein:increased expression:serum, skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr12:52,145,100...52,150,267 JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum RGD PMID:21049277 PMID:21303517 RGD:5135279 RGD:5135284 NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271 		JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO protein:decreased expression:skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr  X:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692 		JBrowse link
G CXCR6 C-X-C motif chemokine receptor 6 ISO protein:increased expression:skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr13:29,095,900...29,100,666
Ensembl chr13:29,095,900...29,100,667 		JBrowse link
G EDN1 endothelin 1 ISO protein:increased secretion:plasma (human) RGD PMID:7653485 RGD:4145072 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348 		JBrowse link
G ELN elastin ISO RGD PMID:22563211 RGD:9585742 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		JBrowse link
G ESR1 estrogen receptor 1 susceptibility ISO DNA:SNP:intron: RGD PMID:19032828 RGD:8553058 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363 		JBrowse link
G ESR2 estrogen receptor 2 no_association ISO DNA:SNP:exon: RGD PMID:19032828 RGD:8553058 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565 		JBrowse link
G F11R F11 receptor ISO RGD PMID:19153103 RGD:7488918 NCBI chr 4:89,425,101...89,447,889
Ensembl chr 4:89,425,018...89,449,599 		JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma: RGD PMID:9374919 RGD:11565087 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137 		JBrowse link
G FBN1 fibrillin 1 susceptibility ISO OMIM:181750
DNA:insertion:5' utr		 RGD
MouseDO		 PMID:10395706 PMID:11123012 PMID:12384286 RGD:12904889 RGD:12910471 RGD:7387265 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor ISO OMIM:181750 MouseDO NCBI chr 9:55,612,905...55,749,784
Ensembl chr 9:55,612,901...55,749,778 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO protein:increased expression:skin: RGD PMID:21865112 RGD:8552335 NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126 		JBrowse link
G FSTL1 follistatin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr13:139,847,246...139,901,972
Ensembl chr13:139,847,438...139,901,965 		JBrowse link
G GPX3 glutathione peroxidase 3 ISO protein:decreased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026 		JBrowse link
G HDAC5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr12:19,077,910...19,119,463
Ensembl chr12:19,078,005...19,121,154 		JBrowse link
G HGF hepatocyte growth factor treatment
severity		 ISO protein:increased expression:serum:
mRNA:increased expression:skin:		 RGD PMID:17049072 PMID:22286923 PMID:24387171 RGD:8548624 RGD:8548651 RGD:8548659 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564 		JBrowse link
G HMGB1 high mobility group box 1 ISO protein:increased expression:serum RGD PMID:18825489 RGD:8695973 NCBI chr11:7,195,556...7,321,071 JBrowse link
G HNRNPL heterogeneous nuclear ribonucleoprotein L ISO RGD PMID:21569507 RGD:9999440 NCBI chr 6:47,643,561...47,655,856
Ensembl chr 6:47,643,566...47,657,833 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression ISO protein:increased expression:blood RGD PMID:1371389 PMID:8099861 PMID:18759276 RGD:8158120 RGD:8547576 RGD:8547587 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G IFNG interferon gamma treatment ISO RGD PMID:1418004 RGD:8157622 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:increased expression:serum: RGD PMID:19004037 RGD:12743606 NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690 		JBrowse link
G IL13 interleukin 13 no_association ISO mRNA, protein:increased expression:skin
protein:increased expression:serum
DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human)		 RGD PMID:9034992 PMID:15564778 PMID:22045834 RGD:5684370 RGD:5684371 RGD:8549502 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093 		JBrowse link
G IL13RA1 interleukin 13 receptor subunit alpha 1 no_association ISO DNA:SNP:intron:43163G>A (rs6646259) (human) RGD PMID:22045834 RGD:8549502 NCBI chr  X:97,300,960...97,353,754
Ensembl chr  X:97,300,466...97,356,133 		JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:epidermis, endodermis, mast cell (human) RGD PMID:22833167 PMID:23335253 RGD:8696037 RGD:8696038 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153 		JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO RGD PMID:1375465 RGD:8662902 NCBI chr 3:52,192,912...52,334,734
Ensembl chr 3:52,192,915...52,288,485 		JBrowse link
G IL2 interleukin 2 ISO protein:increased expression:serum: RGD PMID:2213757 RGD:8663482 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G IL23R interleukin 23 receptor no_association ISO DNA:SNPs: :rs11209032,rs1495965(human)
DNA:SNPs: :rs11209026, rs11465804 (human)		 RGD PMID:18713787 PMID:19918037 RGD:5096624 RGD:8549603 NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510 		JBrowse link
G IL27 interleukin 27 ISO protein:increased expression:serum RGD PMID:20705635 RGD:5128477 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915 		JBrowse link
G IL27RA interleukin 27 receptor subunit alpha ISO mRNA:increased expression:skin RGD PMID:20705635 RGD:5128477 NCBI chr 2:65,127,278...65,149,665
Ensembl chr 2:65,127,287...65,149,740 		JBrowse link
G IL4 interleukin 4 ISO mRNA, protein:increased expression, splice variant:blood, mononuclear cell, plasma
protein:increased expression:serum		 RGD PMID:9034992 PMID:10473513 RGD:5684371 RGD:7829819 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365 		JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:23406616 RGD:12792238 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G IRF5 interferon regulatory factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243 		JBrowse link
G JAM3 junctional adhesion molecule 3 ISO protein:increased expression:skin
protein:decreased expression:skin, endothelial cell		 RGD PMID:19439502 PMID:23001478 RGD:7488920 RGD:7488937 NCBI chr 9:60,629,245...60,738,979
Ensembl chr 9:60,613,400...60,738,924 		JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:skin:
protein:decreased expression:bone marrow:		 RGD PMID:21865112 PMID:22271757 RGD:8551843 RGD:8552335 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		JBrowse link
G LOC110258578 interleukin-1 beta-like susceptibility ISO DNA:polymorphisms:promoter:-31T>C,-511C>T (human) RGD PMID:17444587 RGD:4142872
G LTA lymphotoxin alpha susceptibility ISO DNA:SNP:intron:252A>G (human) RGD PMID:10600011 RGD:8548796 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299 		JBrowse link
G MMP1 matrix metallopeptidase 1 severity ISO mRNA:decreased expression:skin
protein:increased expression:serum		 RGD PMID:12051403 PMID:22286923 RGD:8548651 RGD:8693663 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
G MMP3 matrix metallopeptidase 3 severity ISO protein:increased expression:serum RGD PMID:12051403 PMID:15498049 RGD:8693663 RGD:8693674 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:15642145 RGD:1580577 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MUC1 mucin 1, cell surface associated ISO protein:increased expression:serum RGD PMID:19286849 RGD:4143496 NCBI chr 4:94,626,317...94,631,194 JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr 6:51,317,386...51,358,665 JBrowse link
G NGF nerve growth factor ISO protein:increased expression:serum RGD PMID:21085492 RGD:5144060 NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837 		JBrowse link
G NOTCH4 notch receptor 4 ISO DNA: SNPs: non-coding :multiple RGD PMID:21779181 RGD:6480691 NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:superficial vasculature (human) RGD PMID:20228226 RGD:11541095 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21979415 RGD:5508306 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA: snp: cds: rs2476601
DNA:missense mutation:cds:p.R620W (rs2476601) (human)		 RGD PMID:16464986 PMID:21131644 RGD:6484551 RGD:7829741 NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099 		JBrowse link
G RBP4 retinol binding protein 4 disease_progression ISO associated with Raynaud disease and interstitial lung disease; protein:decreased expression:blood serum (human) RGD PMID:22211766 RGD:329845579 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765 		JBrowse link
G RHOB ras homolog family member B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21750679 NCBI chr 3:117,773,400...117,777,569
Ensembl chr 3:117,773,405...117,777,574 		JBrowse link
G S1PR5 sphingosine-1-phosphate receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29033951 NCBI chr 2:69,293,537...69,299,408
Ensembl chr 2:69,293,546...69,298,377 		JBrowse link
G SELENOP selenoprotein P ISO protein:decreased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chr16:27,537,885...27,547,863
Ensembl chr16:27,537,885...27,631,130 		JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:dermis,microvessel: RGD PMID:26414805 RGD:11343779 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G SERPINF2 serpin family F member 2 ISO protein:increased expression:plasma RGD PMID:12595617 RGD:1625530 NCBI chr12:47,934,551...47,942,283
Ensembl chr12:47,933,864...47,942,285 		JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:25707573 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297 		JBrowse link
G SIRT7 sirtuin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25707573 NCBI chr12:1,078,155...1,084,112
Ensembl chr12:1,078,166...1,084,119 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:repeat, polymorphism:promoter, intron: (human) RGD PMID:17876529 RGD:5684940 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility ISO DNA:SNP:intron: (rs7574865) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs11889341) (human)		 RGD
CTD		 PMID:19644887 PMID:19950257 PMID:20383147 RGD:8661700 RGD:8661711 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472 		JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21750679 NCBI chr16:71,926,038...71,979,969
Ensembl chr16:71,926,133...71,979,966 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:serum:
protein:increased expression:bone marrow:
protein:increased expression:skin
mRNA,protein:increased expression:skin:		 RGD PMID:16426919 PMID:21636803 PMID:22271757 PMID:24387171 RGD:5684416 RGD:7421579 RGD:8548659 RGD:8551843 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G VWF von Willebrand factor severity ISO RGD PMID:22596213 RGD:7205639 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,452 		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 ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, dominant neonatal form | ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn OMIM
ClinVar		 PMID:2653224 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 More... NCBI chr13:31,262,750...31,295,112 JBrowse link
vascular type Ehlers-Danlos syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type OMIM
ClinVar		 PMID:1352273 PMID:1939638 PMID:2049575 PMID:2235526 PMID:2243125 More... NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		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 ClinVar Annotator: match by term: Warburg-cinotti syndrome OMIM
ClinVar		 PMID:9536098 PMID:17103436 PMID:17576681 PMID:23637089 PMID:25741868 More... NCBI chr 4:87,749,738...87,911,818
Ensembl chr 4:87,756,168...87,911,296 		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: X-linked Alport syndrome ClinVar NCBI chr  X:88,545,924...88,633,328
Ensembl chr  X:88,548,751...88,633,321 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12028435 PMID:17396119 PMID:19129241 PMID:19675380 PMID:20029656 More... NCBI chr15:128,472,228...128,612,302
Ensembl chr15:128,476,257...128,595,477 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: COL4A5-related condition | ClinVar Annotator: match by term: X-linked Alport syndrome OMIM
ClinVar		 PMID:1330889 PMID:1352287 PMID:1363780 PMID:1376965 PMID:1577459 More... NCBI chr  X:88,958,837...89,183,306
Ensembl chr  X:88,958,849...89,183,372 		JBrowse link
G COL4A6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:88,634,925...88,750,938
Ensembl chr  X:88,634,930...88,957,416 		JBrowse link
G FN1 fibronectin 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014 		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 More... NCBI chr17:3,859,903...3,939,612
Ensembl chr17:3,859,692...3,939,726 		JBrowse link
G ZC3H12C zinc finger CCCH-type containing 12C ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 NCBI chr 9:38,133,440...38,209,365
Ensembl chr 9:38,138,004...38,207,027 		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 ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked OMIM
ClinVar		 PMID:240645 PMID:1854572 PMID:8230166 PMID:9497244 PMID:9536098 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      Skin and Connective Tissue Diseases 6721
        connective tissue disease 5225
          collagen disease 463
            Alport syndrome + 16
            Cardiomyopathy Hypogonadism Collagenoma Syndrome 0
            Ehlers-Danlos syndrome + 245
            Familial Cutaneous Collagenoma 1
            Familial Reactive Perforating Collagenosis 0
            Keloid + 38
            Kniest dysplasia 1
            Necrobiotic Disorders + 0
            disseminated eosinophilic collagen disease 0
            epidermolysis bullosa dystrophica + 6
            mixed connective tissue disease 7
            osteogenesis imperfecta + 54
            polymyalgia rheumatica 6
            scleroderma + 115
paths to the root