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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.



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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 chr11:46,701,940...46,799,049 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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1400291 PMID:2557550 PMID:7780062 PMID:7987301 PMID:7987396 More... RGD:1600924 NCBI chr 9:83,875,849...84,004,955 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:3385421 PMID:9536098 PMID:9792860 PMID:11134255 More... NCBI chr 9:83,833,173...83,875,436 JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO Alport Syndrome, OMIM:301050, DNA:deletion:exons
ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane
ClinVar
RGD
PMID:2349482 PMID:7599631 PMID:7695699 PMID:8218237 PMID:8455372 More... RGD:1600687 NCBI chr  X:109,907,251...110,111,214 JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chr 3:137,030,200...137,036,581 JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chr 8:4,581,785...4,591,687 JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr 8:12,925,267...12,938,828 JBrowse link
G Myh9 myosin, heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr 7:111,224,291...111,304,963 JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Alport syndrome ClinVar PMID:28492532 PMID:30311386 NCBI chr10:45,776,907...45,835,473 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*16 (human) RGD PMID:15182324 RGD:7365078 NCBI chr20:4,548,664...4,558,237 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1400291 PMID:2557550 PMID:6138234 PMID:7780062 PMID:7987301 More... NCBI chr 9:83,875,849...84,004,955 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 Annotator: match by term: Renal failure and sensorineural hearing loss ClinVar PMID:9536098 PMID:9792860 PMID:11375996 PMID:11961012 PMID:12028435 More... NCBI chr 9:83,833,173...83,875,436 JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More... NCBI chr  X:109,907,251...110,111,214 JBrowse link
G Myh9 myosin, heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr 7:111,224,291...111,304,963 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1680286 PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 More... NCBI chr 8:109,604,877...109,637,249 JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,705,592...101,741,933 JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr10:85,137,786...85,142,054 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:9036937 More... NCBI chr 7:132,846,132...132,851,861 JBrowse link
autosomal recessive Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: Autosomal recessive Alport syndrome ClinVar PMID:25741868 NCBI chr16:5,227,157...5,521,163 JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:15716328 RGD:5688157 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO
ISS
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:203780
OMIM
ClinVar
MouseDO
PMID:1400291 PMID:6138234 PMID:7633417 PMID:7780062 PMID:7987301 More... NCBI chr 9:83,875,849...84,004,955 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO
ISS
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome
OMIM:203780
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:3385421 PMID:7987396 PMID:8787673 PMID:9195222 PMID:9536098 More... NCBI chr 9:83,833,173...83,875,436 JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive Alport syndrome ClinVar PMID:24033266 PMID:25741868 NCBI chr15:31,260,390...31,278,222 JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISS OMIM:203780 MouseDO NCBI chr 6:25,221,668...25,236,241 JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:27392076 PMID:33185949 NCBI chr 4:120,973,519...120,987,871 JBrowse link
Brittle Cornea Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Brittle cornea syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28518168 PMID:29228253 PMID:32461654 NCBI chr19:50,282,337...50,324,010 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 4:95,075,736...95,237,921 JBrowse link
G Zfp469 zinc finger protein 469 ISO
ISS
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:229200
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 More... NCBI chr19:50,282,337...50,324,010 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 | ClinVar Annotator: match by term: PRDM5-related condition OMIM
ClinVar
PMID:8458232 PMID:9536098 PMID:17576681 PMID:21664999 PMID:22122778 More... NCBI chr 4:95,075,736...95,237,921 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 chr10:85,345,434...85,357,998 JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO
ISS
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES
OMIM:259450 | OMIM:609220
ClinVar
MouseDO
PMID:25086671 PMID:25741868 PMID:28492532 PMID:37076969 NCBI chr 8:93,084,548...93,167,255 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 4:33,518,557...33,553,484 JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Arthrogryposis-like disorder | ClinVar Annotator: match by term: Bruck syndrome 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9129737 PMID:9481655 PMID:9536098 PMID:9927692 PMID:17576681 More... NCBI chr10:85,345,434...85,357,998 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 More... NCBI chr 8:93,084,548...93,167,255 JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features | ClinVar Annotator: match by term: Cole-Carpenter syndrome
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr10:105,836,972...105,848,583 JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:214,103,138...214,211,155 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 | ClinVar Annotator: match by term: P4HB-related condition OMIM
ClinVar
PMID:25683117 PMID:25741868 PMID:28492532 PMID:29263160 PMID:30063094 NCBI chr10:105,836,972...105,848,583 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 2:214,103,138...214,211,155 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:1770532 PMID:2037280 PMID:2794057 PMID:2894346 PMID:7691343 More... NCBI chr10:80,380,458...80,397,461 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 4:33,518,557...33,553,484 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 chr14:22,342,910...22,401,522 JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:112,554,257...112,750,835 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 chr11:91,226,524...91,240,244 JBrowse link
G Agt angiotensinogen ISO protein:increased expression:serum RGD PMID:14730619 RGD:8548886 NCBI chr19:69,426,540...69,447,017 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 2:224,530,475...224,800,420 JBrowse link
G Cav1 caveolin 1 susceptibility
no_association
ISO DNA:SNPs:intron, 3' utr: (rs729949, rs3815412, rs9920) (human)
DNA:SNPs:enhancer, intron:multiple
RGD PMID:22402147 PMID:22402147 RGD:8661768, RGD:8661768 NCBI chr 4:46,606,538...46,639,616 JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO RGD PMID:18432520 RGD:5135258 NCBI chr14:17,310,790...17,312,250 JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:8254199 RGD:5147984 NCBI chr13:85,813,516...85,830,269 JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9034992 RGD:5684371 NCBI chr13:45,024,921...45,029,586 JBrowse link
G Il13 interleukin 13 ISO DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) RGD PMID:16832637 RGD:5684369 NCBI chr10:38,290,926...38,293,483 JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:20338043 RGD:12792275 NCBI chr 4:5,889,999...5,894,575 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:156,919,927...156,929,825 JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr14:32,572,031...32,615,204 JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism::HLA-DQA1*0501; RGD PMID:11014350 RGD:8547725 NCBI chr20:4,575,134...4,579,727 JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
no_association
ISO DNA:SNP:introns: (rs7574865, rs10168266) (human)
DNA:SNP:intron: (rs7574865) (human)
DNA:SNP:intron: (rs3821236) (human)
RGD PMID:23755762 PMID:19286670 PMID:23755762 RGD:8661701, RGD:8661714, RGD:8661701 NCBI chr 9:49,472,660...49,588,540 JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr20:4,658,171...4,668,543 JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr20:4,636,347...4,650,387 JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27228633 NCBI chr 5:66,449,348...66,506,371 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 2:171,499,189...171,504,831 JBrowse link
G Wrn WRN RecQ like helicase ISO RGD PMID:16906373 RGD:10042980 NCBI chr16:65,466,552...65,602,951 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 susceptibility ISO ClinVar Annotator: match by term: Disabling pansclerotic morphea of childhood ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:37256972 NCBI chr 9:49,472,660...49,588,540 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 chr10:34,920,992...35,126,465 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:75,159,635...75,267,094 JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 susceptibility ISO DNA:transition:exon;808C>T
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:31278392 PMID:31614862 PMID:10473568 RGD:1599433 NCBI chr17:9,018,514...9,027,591 JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar NCBI chr 4:157,412,718...157,423,483 JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:126,370,348...126,372,405 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO
ISS
DNA:transition mutation:splice junction:
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
OMIM:225400
ClinVar
MouseDO
RGD
PMID:2238087 PMID:7691343 PMID:7695699 PMID:8079666 PMID:8218237 More... RGD:11571617 NCBI chr10:80,380,458...80,397,461 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar
RGD
PMID:1577745 PMID:1634225 PMID:1712342 PMID:1990839 PMID:2993307 More... RGD:1581198 NCBI chr 4:33,518,557...33,553,484 JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon
DNA:deletion:promoter, exons, introns
ClinVar
CTD
RGD
PMID:2049575 PMID:2235526 PMID:8514866 PMID:9036918 PMID:9399899 More... RGD:1300381, RGD:11041602, RGD:11041599, RGD:7257554 NCBI chr 9:54,866,646...54,902,578 JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome
DNA:repeat:intron:IVS17 (human)
ClinVar
RGD
PMID:10471441 PMID:10602121 PMID:10777716 PMID:10946364 PMID:11992482 More... RGD:1581210, RGD:1581211, RGD:1581212, RGD:734808 NCBI chr 3:11,208,429...11,356,715 JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO EDS type 1, OMIM:130000, EDS type 2, OMIM:130010, DNA:deletions
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
ClinVar
RGD
PMID:2855059 PMID:9536098 PMID:11940702 PMID:17576681 PMID:25741868 More... RGD:734809 NCBI chr 9:54,940,768...55,090,151 JBrowse link
G Dcn decorin ISS OMIM:225400 MouseDO NCBI chr 7:34,167,973...34,208,004 JBrowse link
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:26,118,194...26,196,889 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 chr18:51,499,670...51,703,976 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 chr 4:83,705,531...83,721,515 JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 NCBI chr  X:157,159,051...157,185,559 JBrowse link
G Lox lysyl oxidase ISO RGD PMID:8638917 RGD:1581895 NCBI chr18:45,964,544...45,977,431 JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISS
ISO
OMIM:225400
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
MouseDO
ClinVar
PMID:1345174 PMID:3931636 PMID:8533783 PMID:9152832 PMID:9220536 More... NCBI chr 5:163,623,847...163,650,737 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 4:95,075,736...95,237,921 JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G74D (human)
ClinVar
CTD
RGD
PMID:18985159 PMID:25741868 PMID:28492532 PMID:18985159 PMID:18985159 RGD:11553861, RGD:11553861 NCBI chr 3:77,039,411...77,047,528 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 8:64,126,829...64,236,960 JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:plasma: RGD PMID:24399159 RGD:11073604 NCBI chr 1:90,324,312...90,340,627 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 chr13:98,160,075...98,261,771 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 5:66,449,348...66,506,371 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 chr 8:124,672,677...124,761,741 JBrowse link
G Thbs2 thrombospondin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:38433265 NCBI chr 1:64,343,523...64,372,918 JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar
RGD
PMID:15733269 PMID:20853426 PMID:23555315 PMID:23620400 PMID:24033266 More... RGD:1599494
G Zfp469 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 chr19:50,282,337...50,324,010 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 Alb albumin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type ClinVar PMID:2404284 PMID:8347685 NCBI chr14:17,891,564...17,907,043 JBrowse link
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 type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:1770532 PMID:1867198 PMID:2037280 PMID:2542316 PMID:2767050 More... RGD:734803 NCBI chr10:80,380,458...80,397,461 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 4:33,518,557...33,553,484 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 3:11,208,429...11,356,715 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
ClinVar PMID:9536098 PMID:17576681 PMID:25326637 PMID:25741868 PMID:28087566 More... NCBI chr 9:54,940,768...55,090,151 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 chr10:80,380,458...80,397,461 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 4:33,518,557...33,553,484 JBrowse link
Ehlers-Danlos syndrome cardiac valvular type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar 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, 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 PMID:1770532 PMID:1867198 PMID:2037280 PMID:2542316 PMID:2767050 More... NCBI chr10:80,380,458...80,397,461 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3049731 PMID:3383844 PMID:7695699 PMID:7860070 PMID:8094076 More... NCBI chr 4:33,518,557...33,553,484 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 3:10,162,087...10,182,835 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 3:10,299,264...10,338,464 JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,397,774...10,434,557 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 chr14:80,738,800...80,748,878 JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:32,426,892...32,542,432 JBrowse link
G Barhl1 BarH-like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:12,241,327...12,248,649 JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,773,163...10,829,675 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 3:10,335,881...10,352,437 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 NCBI chr 3:29,144,318...29,206,382 JBrowse link
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 NCBI chr 3:29,569,907...29,578,402 JBrowse link
G Casd1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 4:33,613,805...33,705,821 JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:32,281,518...32,289,019 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 3:12,258,453...12,381,319 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 chr10:80,380,458...80,397,461 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 4:33,518,557...33,553,484 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:9783710 PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 More... NCBI chr 9:54,866,646...54,902,578 JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO
ISS
CTD Direct Evidence: marker/mechanism
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
OMIM:130000
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
CTD
ClinVar
MouseDO
OMIM
PMID:7695699 PMID:8218237 PMID:8575750 PMID:8752669 PMID:8923000 More... NCBI chr 3:11,208,429...11,356,715 JBrowse link
G Col5a2 collagen type V alpha 2 chain ISS
ISO
OMIM:130000
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, 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 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
MouseDO
ClinVar
PMID:2855059 PMID:7695699 PMID:8218237 PMID:9425231 PMID:9536098 More... NCBI chr 9:54,940,768...55,090,151 JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:30,886,313...30,903,313 JBrowse link
G Ddx31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:12,172,829...12,238,392 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 NCBI chr 3:29,568,041...29,569,937 JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:29,599,059...29,605,780 JBrowse link
G Fam163b family with sequence similarity 163, member B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,437,383...10,466,458 JBrowse link
G Fcnb ficolin B 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 3:11,393,713...11,402,198 JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr  X:157,159,051...157,185,559 JBrowse link
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:11,826,131...11,829,745 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 3:11,940,232...11,952,989 JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 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 3:29,026,023...29,037,010 JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:29,538,929...29,565,921 JBrowse link
G Gtf3c4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:12,154,803...12,172,795 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 3:11,893,867...11,914,187 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 NCBI chr 3:29,614,868...29,627,542 JBrowse link
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 NCBI chr 3:29,081,071...29,136,902 JBrowse link
G Lcn1 lipocalin 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 3:29,930,943...29,935,418 JBrowse link
G Lcn9 lipocalin 9 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 3:29,041,710...29,050,677 JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:29,424,620...29,432,637 JBrowse link
G Lum lumican ISS OMIM:130000 MouseDO NCBI chr 7:34,245,323...34,252,510 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:66,404,807...66,427,775 JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,233,754...10,238,836 JBrowse link
G Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:12,629,593...12,803,340 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, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:32,201,037...32,204,317 JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:25741868 PMID:28492532 NCBI chr10:1,250,554...1,345,681 JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,388,363...10,397,294 JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:29,278,077...29,345,098 JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:29,676,040...29,721,613 JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:12,492,574...12,551,104 JBrowse link
G Obp2a odorant binding protein 2A 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 3:28,904,024...28,907,391 JBrowse link
G Obp2b odorant binding protein 2B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:8,582,074...8,585,258 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 3:11,520,522...11,558,240 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 NCBI chr 3:28,929,252...28,932,592 JBrowse link
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 NCBI chr 3:11,797,031...11,801,568 JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:29,605,823...29,614,936 JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:15,520,717...15,538,579 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 NCBI chr 3:11,781,504...11,790,076 JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:29,433,091...29,462,739 JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:32,237,644...32,278,045 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 3:33,296,211...33,414,119 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 3:10,280,654...10,291,003 JBrowse link
G Rnu6atac RNA, U6atac small nuclear ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:211,550,817...211,550,946 JBrowse link
G Rpl7a ribosomal protein L7A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 NCBI chr 3:10,239,026...10,241,703 JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 NCBI chr 3:31,387,892...31,474,415 JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 NCBI chr 3:10,510,553...10,575,342 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 NCBI chr 3:29,627,779...29,662,925 JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:32,825,771...32,878,740 JBrowse link
G Sgce sarcoglycan, epsilon ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 4:32,771,477...32,842,238 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 chr 3:174,659,683...174,671,978 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 3:30,746,472...30,753,287 JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr 9:55,525,457...55,633,463 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 NCBI chr 3:29,580,157...29,598,440 JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:29,061,267...29,065,588 JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:12,019,376...12,028,801 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 3:30,659,659...30,678,650 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 3:30,639,868...30,642,759 JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,244,654...10,248,502 JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,248,360...10,261,537 JBrowse link
G Surf6 surfeit 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,221,450...10,232,306 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 5:66,449,348...66,506,371 JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:29,360,770...29,364,756 JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:32,367,434...32,416,565 JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:12,384,626...12,409,257 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 NCBI chr 3:29,223,582...29,246,216 JBrowse link
G Uck1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:35,936,328...35,942,213 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 3:30,982,754...31,152,116 JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:10,836,964...10,856,682 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 chr 9:47,903,214...47,933,399 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 Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 ClinVar NCBI chr14:80,738,800...80,748,878 JBrowse link
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 4:33,518,557...33,553,484 JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2
CTD
ClinVar
PMID:8752669 PMID:9042913 PMID:15580559 PMID:22696272 PMID:25741868 More... NCBI chr 3:11,208,429...11,356,715 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 chr 9:54,940,768...55,090,151 JBrowse link
Ehlers-Danlos syndrome classic-like 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnxb tenascin XB ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 1 | ClinVar Annotator: match by term: TNX deficiency
CTD
ClinVar
OMIM
PMID:11642233 PMID:11925569 PMID:12865992 PMID:15733269 PMID:20853426 More...
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: AEBP1-related condition | 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 chr14:80,738,800...80,748,878 JBrowse link
Ehlers-Danlos syndrome classic-like 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thbs2 thrombospondin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 3 ClinVar PMID:25741868 PMID:38433265 NCBI chr 1:64,343,523...64,372,918 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: ADAMTS2-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type
CTD Direct Evidence: marker/mechanism
DNA:deletions: :
OMIM
ClinVar
CTD
RGD
PMID:1642226 PMID:7735500 PMID:8215497 PMID:8986271 PMID:9536098 More... RGD:1598738 NCBI chr10:34,920,992...35,126,465 JBrowse link
G Arl10 ARF 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 chr17:10,030,213...10,038,625 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 chr17:9,018,514...9,027,591 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 chr10:35,124,941...35,157,954 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 chr10:34,680,926...34,683,176 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 chr17:9,876,853...9,913,356 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 chr10:36,024,364...36,042,366 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 chr17:10,001,512...10,019,201 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 chr10:35,549,090...35,839,152 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 chr17:10,219,577...10,292,835 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 chr17:9,150,608...9,164,982 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 chr17:9,102,926...9,108,415 JBrowse link
G Dok3 docking 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 chr17:9,109,633...9,115,188 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 chr17:9,831,338...9,856,250 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 chr17:9,212,819...9,220,664 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 chr17:9,947,211...9,989,474 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 chr17:9,066,818...9,099,511 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 chr17:9,466,686...9,481,423 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 chr17:9,863,881...9,876,832 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 chr17:9,182,160...9,198,380 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 chr10:35,167,985...35,182,717 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 chr17:10,026,961...10,027,885 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 chr17:9,602,119...9,620,038 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 chr10:36,358,004...36,363,898 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 chr10:34,692,868...34,702,849 JBrowse link
G Kiaa1191 KIAA1191 homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:10,049,142...10,061,819 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 chr17:9,269,236...9,286,923 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 chr10:35,060,002...35,066,466 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 chr10:34,588,639...34,623,024 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 chr10:34,548,918...34,559,229 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 chr17:9,301,430...9,305,156 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 chr10:35,898,031...35,906,704 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 chr10:35,877,057...35,880,399 JBrowse link
G Nop16 NOP16 nucleolar protein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:10,022,950...10,027,867 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 chr17:9,311,963...9,426,373 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 chr17:9,124,565...9,139,814 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 chr17:9,217,595...9,218,122 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 chr10:35,839,965...35,863,631 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 chr17:9,305,349...9,308,389 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 chr10:35,271,959...35,274,434 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 chr17:9,164,375...9,173,669 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 chr17:9,313,593...9,315,675 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 chr17:9,248,982...9,263,104 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 chr10:36,382,212...36,394,801 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 chr17:9,919,982...9,934,376 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 chr10:34,705,741...34,750,644 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 chr17:10,061,752...10,106,938 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 chr17:9,224,010...9,238,983 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 chr17:9,846,802...9,855,013 JBrowse link
G Spata31d1c SPATA31 subfamily D member 1C ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:159,402...164,239 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 chr10:35,026,598...35,037,750 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 chr17:10,143,184...10,152,375 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 chr17:9,029,646...9,034,160 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 chr17:9,819,212...9,826,851 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 chr17:9,523,793...9,592,810 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 chr17:9,614,841...9,670,558 JBrowse link
G Zfp2 zinc finger protein 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 chr10:35,209,187...35,228,849 JBrowse link
G Zfp346 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 chr17:9,498,933...9,528,824 JBrowse link
G Zfp354a 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 chr10:35,396,242...35,408,069 JBrowse link
G Zfp354c zinc finger protein 354C ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,630,738...35,647,176 JBrowse link
G Zfp879 zinc finger protein 879 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,148,679...35,158,674 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 chr10:35,233,783...35,251,110 JBrowse link
G Znf454 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 chr10:35,183,729...35,200,450 JBrowse link
Ehlers-Danlos syndrome hypermobility type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO DNA:missense mutation: :p.G637S (2512G>A) (human)
ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type
ClinVar
RGD
PMID:25741868 PMID:25758994 PMID:26854089 PMID:28087566 PMID:28492532 More... RGD:11041770 NCBI chr 9:54,866,646...54,902,578 JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:28492532 NCBI chr 3:29,676,040...29,721,613 JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:25326637 PMID:25741868
Ehlers-Danlos syndrome kyphoscoliotic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2510039O18Rikl RIKEN cDNA 2510039O18 gene like ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 5:163,655,082...163,661,346 JBrowse link
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:7581394 PMID:7668254 PMID:9425230 PMID:17372139 PMID:19129531 More... NCBI chr  X:151,428,334...151,450,115 JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 5:163,715,593...163,748,301 JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532 NCBI chr17:79,684,988...79,718,399 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:25741868 PMID:28492532 NCBI chr 5:158,304,285...158,335,502 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 5:163,748,346...163,768,141 JBrowse link
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 5:163,712,184...163,713,493 JBrowse link
G Nppb natriuretic peptide B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 5:163,699,955...163,701,314 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:222849 PMID:416188 PMID:1345174 PMID:3110540 PMID:3931636 More... NCBI chr 5:163,623,847...163,650,737 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 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 4:85,812,784...85,824,964 JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 4:85,553,163...85,596,203 JBrowse link
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 More... NCBI chr 4:83,705,531...83,721,515 JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 4:84,171,596...84,212,609 JBrowse link
G Ggct gamma-glutamyl cyclotransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 4:85,453,387...85,459,597 JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 4:84,498,159...84,532,851 JBrowse link
G Inmt indolethylamine N-methyltransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 4:84,318,197...84,322,493 JBrowse link
G Mindy4 MINDY lysine 48 deubiquitinase 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 4:84,358,660...84,469,189 JBrowse link
G Mturn maturin, neural progenitor differentiation regulator homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 4:83,807,528...83,828,494 JBrowse link
G Nod1 nucleotide-binding oligomerization domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 4:85,391,142...85,442,281 JBrowse link
G Plekha8 pleckstrin homology domain containing A8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 4:83,723,470...83,774,081 JBrowse link
G Znrf2 zinc and ring finger 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 4:85,274,626...85,358,083 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: CHST14-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1
DNA:frameshift mutations, missense mutations:CDS:multiple (human)
DNA:missense mutations, deletion:CDS:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:1184396 PMID:2202212 PMID:9084938 PMID:10766984 PMID:11370633 More... RGD:11061906, RGD:155663488 NCBI chr 3:126,370,348...126,372,405 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: DSE-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 OMIM
ClinVar
PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 NCBI chr20:26,118,194...26,196,889 JBrowse link
G Tspyl1 TSPY-like 1 ISO ClinVar Annotator: match by term: DSE-related condition ClinVar PMID:28492532 NCBI chr20:38,082,003...38,084,562 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: C1R-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1
OMIM
CTD
ClinVar
PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More... NCBI chr 4:157,412,718...157,423,483 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 4:157,394,183...157,410,771 JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 ClinVar PMID:27745832 NCBI chr 4:157,430,249...157,442,438 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 4:157,412,718...157,423,483 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 4:157,394,183...157,410,771 JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: C1S-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 OMIM
ClinVar
PMID:9973493 PMID:11390518 PMID:19155518 PMID:25741868 PMID:27745832 More... NCBI chr 4:157,430,249...157,442,438 JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:171,866,428...171,868,564 JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: B4GALT7-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1221956 PMID:1640425 PMID:9536098 PMID:15211654 PMID:17576681 More... NCBI chr17:9,018,514...9,027,591 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 5:171,783,382...171,797,709 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 5:170,518,470...170,519,870 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 5:172,031,528...172,064,429 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 5:171,680,597...171,682,854 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 5:170,126,573...170,148,624 JBrowse link
G Atad3a ATPase family, AAA domain containing 3A 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 5:171,632,545...171,652,725 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 5:171,866,428...171,868,564 JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:1221956 PMID:1640425 PMID:3631078 PMID:9536098 PMID:10473568 More... NCBI chr17:9,018,514...9,027,591 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 5:171,833,854...171,838,229 JBrowse link
G C5h1orf159 similar to human chromosome 1 open reading frame 159 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 5:171,983,700...172,001,373 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 5:169,867,706...169,881,820 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 5:171,698,951...171,711,037 JBrowse link
G Cdk11b cyclin-dependent kinase 11B 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 5:171,495,042...171,521,143 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 5:169,817,383...169,849,681 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 5:171,252,907...171,328,351 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 5:171,757,181...171,761,271 JBrowse link
G Dbn1 drebrin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,150,608...9,164,982 JBrowse link
G Ddx41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,102,926...9,108,415 JBrowse link
G Dok3 docking protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,109,633...9,115,188 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 5:171,738,911...171,750,967 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 chr17:9,831,338...9,856,250 JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,212,819...9,220,664 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 5:171,083,328...171,097,599 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 chr17:9,066,818...9,099,511 JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,466,686...9,481,423 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 5:171,581,960...171,584,519 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 5:171,240,813...171,252,709 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 5:171,357,778...171,424,489 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 chr17:9,182,160...9,198,380 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 5:170,804,511...170,807,988 JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,602,119...9,620,038 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 5:171,761,370...171,779,883 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 5:172,066,369...172,067,656 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 5:172,095,701...172,101,945 JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,269,236...9,286,923 JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:169,852,926...169,862,598 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 5:170,020,699...170,121,557 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 5:171,526,037...171,542,479 JBrowse link
G Mir200a microRNA 200a 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 5:171,930,717...171,930,805 JBrowse link
G Mir200b microRNA 200b 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 5:171,931,495...171,931,589 JBrowse link
G Mir429 microRNA 429 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 5:171,929,682...171,929,766 JBrowse link
G Mmel1 membrane metallo-endopeptidase-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 5:170,713,602...170,744,058 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 5:171,521,905...171,525,007 JBrowse link
G Morn1 MORN repeat 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 5:170,928,086...170,987,219 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 5:171,690,664...171,695,728 JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,301,430...9,305,156 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 5:171,731,153...171,735,879 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 5:171,427,973...171,458,586 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 5:172,102,369...172,114,168 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 chr17:9,311,963...9,426,373 JBrowse link
G Pank4 pantothenate kinase 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 5:170,807,744...170,824,478 JBrowse link
G Pdlim7 PDZ and LIM domain 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,124,565...9,139,814 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 5:170,910,136...170,915,302 JBrowse link
G Pfn3 profilin 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,217,595...9,218,122 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 5:170,826,543...170,885,012 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 5:172,087,524...172,095,566 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 5:170,162,275...170,486,371 JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,305,349...9,308,389 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 5:171,101,774...171,212,694 JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr10:35,271,959...35,274,434 JBrowse link
G Prr7 proline rich 7 (synaptic) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,164,375...9,173,669 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 5:170,744,953...170,747,556 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 5:171,773,284...171,782,893 JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,313,593...9,315,675 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 5:170,916,643...170,929,073 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 chr17:9,248,982...9,263,104 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 5:172,005,566...172,008,456 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 5:172,113,900...172,142,026 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 5:171,868,591...171,885,827 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 5:170,995,851...171,064,957 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 chr17:9,224,010...9,238,983 JBrowse link
G Slc35e2b solute carrier family 35, member E2B 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 5:171,465,222...171,493,317 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 5:169,861,751...169,867,070 JBrowse link
G Sncb synuclein, beta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,846,802...9,855,013 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 5:171,595,919...171,625,675 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 5:171,750,937...171,754,993 JBrowse link
G Tmed9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,029,646...9,034,160 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 5:171,625,830...171,653,836 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 5:171,330,948...171,332,704 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 5:171,673,319...171,676,143 JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 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 5:170,768,413...170,776,749 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 5:171,901,734...171,904,578 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 5:171,889,134...171,891,824 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 5:169,903,801...169,988,075 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 5:170,004,577...170,007,784 JBrowse link
G Tspan17 tetraspanin 17 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,819,212...9,826,851 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 5:170,693,410...170,711,215 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 5:171,912,371...171,937,733 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 5:171,815,607...171,830,037 JBrowse link
G Uimc1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,523,793...9,592,810 JBrowse link
G Unc5a unc-5 netrin receptor A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,614,841...9,670,558 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 5:171,659,694...171,664,880 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 5:169,988,538...170,004,071 JBrowse link
G Zfp346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr17:9,498,933...9,528,824 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
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds:c.483_491del9 (human)
OMIM
ClinVar
CTD
RGD
PMID:9536098 PMID:17576681 PMID:18513683 PMID:18985159 PMID:24033266 More... RGD:11553863 NCBI chr 3:77,039,411...77,047,528 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 chr 9:54,866,646...54,902,578 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 chr 9:54,940,768...55,090,151 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:24922459 PMID:28492532 NCBI chr 9:55,525,457...55,633,463 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:24922459 PMID:28492532 NCBI chr 9:47,903,214...47,933,399 JBrowse link
epidermolysis bullosa dystrophica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain susceptibility ISO DNA:insertion-deletion
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 | ClinVar Annotator: match by term: epidermolysis bullosa dystrophica, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7833933 More... RGD:1600946 NCBI chr 8:109,604,877...109,637,249 JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chr14:86,270,208...86,277,944 JBrowse link
G Mir711 microRNA 711 ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:109,621,975...109,622,042 JBrowse link
G Mmp1 matrix metallopeptidase 1 severity ISO DNA:insertion:promoter:g.-1607_-1606insG (human)
ClinVar Annotator: match by term: Hallopeau-Siemens Disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:25741868 PMID:28492532 PMID:18030675 RGD:8549728 NCBI chr 8:12,943,453...12,963,966 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 chr 8:109,604,877...109,637,249 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8644730 More... NCBI chr 8:109,604,877...109,637,249 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2425097 PMID:5910871 PMID:7695699 PMID:7833933 PMID:8088783 More... NCBI chr 8:109,604,877...109,637,249 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 7:56,415,053...56,499,047 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
ISS
ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions
OMIM:166260
DNA:missense mutations:exon:p.C356R, p.C356G (human)
DNA:missense mutation:exon:p.T513I (c.1538C>T) (human)
OMIM
ClinVar
MouseDO
RGD
PMID:3530687 PMID:5816667 PMID:9536098 PMID:9673985 PMID:15124103 More... RGD:11570566, RGD:11570556 NCBI chr 1:101,086,490...101,187,547 JBrowse link
G Fancf FA complementation group F ISO ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia ClinVar PMID:28492532 NCBI chr 1:110,585,054...110,587,870 JBrowse link
G Slc17a6 solute carrier family 17 member 6 ISO ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia ClinVar PMID:28492532 NCBI chr 1:101,212,489...101,252,543 JBrowse link
Keloid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt2 actin-related protein T2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 5:170,518,470...170,519,870 JBrowse link
G Agpat5 1-acylglycerol-3-phosphate O-acyltransferase 5 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chr16:70,939,480...70,985,745 JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr14:17,891,564...17,907,043 JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr10:106,352,858...106,356,347 JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28492532 PMID:28905881 NCBI chr16:57,669,927...57,701,349 JBrowse link
G Aspn asporin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr17:15,079,910...15,104,369 JBrowse link
G Capg capping actin protein, gelsolin like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 4:106,152,912...106,170,010 JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr20:3,769,522...3,778,367 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr10:80,380,458...80,397,461 JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:54,866,646...54,902,578 JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 3:11,208,429...11,356,715 JBrowse link
G Crabp1 cellular retinoic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 8:55,138,363...55,159,360 JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr10:55,138,821...55,143,272 JBrowse link
G Fgg fibrinogen gamma chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:168,354,880...168,362,325 JBrowse link
G Foxl2 forkhead box L2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chr 8:99,512,971...99,514,500 JBrowse link
G Fth1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:216,052,037...216,054,325 JBrowse link
G Ftl1 ferritin light chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:105,072,858...105,074,705 JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:167,636,064...167,643,577 JBrowse link
G Lgals1 galectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 7:112,365,695...112,368,801 JBrowse link
G Mif macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr20:12,790,919...12,791,784 JBrowse link
G Mydgf myeloid-derived growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:999,659...1,008,804 JBrowse link
G Myl6b myosin light chain 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr  X:44,450,733...44,451,711 JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chr 8:82,264,751...82,349,642 JBrowse link
G Pfn1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr10:55,863,882...55,866,587 JBrowse link
G Prdx1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 5:135,383,906...135,399,504 JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr19:23,180,927...23,186,217 JBrowse link
G Ran RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr12:27,674,049...27,678,598