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: Ehlers-Danlos syndrome classic type 1
Accession: DOID:14720
browse the term
Definition: An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34. (DO)
Synonyms: exact_synonym: EDS I; EDS1; EDSCL1; Ehlers-Danlos syndrome type 1; Ehlers-Danlos syndrome type I; Ehlers-Danlos syndrome, Gravis type; Ehlers-Danlos syndrome, classic severe form; Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, severe classic type
primary_id: MESH:C536194
alt_id: OMIM:130000
xref: NCI:C125696
For additional species annotation, visit the
Alliance of Genome Resources .
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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 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
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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 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
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Adamtsl2
ADAMTS-like 2
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:5,624,473...5,654,890
Ensembl chr 3:5,624,506...5,654,910
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Ak8
adenylate kinase 8
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:7,279,429...7,394,509
Ensembl chr 3:7,279,340...7,394,513
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Barhl1
BarH-like homeobox 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:7,491,234...7,498,555
Ensembl chr 3:7,491,234...7,498,555
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Brd3
bromodomain containing 3
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:5,995,204...6,054,467
Ensembl chr 3:5,997,315...6,054,483
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Cacfd1
calcium channel flower domain containing 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:5,555,807...5,571,205
Ensembl chr 3:5,555,807...5,572,064
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Casd1
CAS1 domain containing 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 4:29,638,280...29,693,151
Ensembl chr 4:29,639,154...29,691,928
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Cel
carboxyl ester lipase
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:7,134,021...7,141,522
Ensembl chr 3:7,134,021...7,141,522
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Cfap77
cilia and flagella associated protein 77
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:7,508,500...7,632,311
Ensembl chr 3:7,508,496...7,632,345
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Col1a1
collagen type I alpha 1 chain
ISO
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
ClinVar
PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 PMID:28102596 PMID:28492532
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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Col1a2
collagen type I alpha 2 chain
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:1978725 PMID:1990009 PMID:2454224 PMID:2985635 PMID:2993307 PMID:3372533 PMID:3680255 PMID:6092353 PMID:6773953 PMID:7693712 PMID:7695699 PMID:7749416 PMID:7860070 PMID:7891382 PMID:8081389 PMID:8094076 PMID:8218237 PMID:8829649 PMID:9016532 PMID:9099837 PMID:9272740 PMID:9399846 PMID:9594376 PMID:9923651 PMID:10027910 PMID:11288717 PMID:11317364 PMID:11359465 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16705691 PMID:16786509 PMID:16816023 PMID:16879195 PMID:17078022 PMID:18028452 PMID:18311573 PMID:18996919 PMID:19344236 PMID:19594296 PMID:21520333 PMID:21667357 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23548243 PMID:23692737 PMID:23934635 PMID:24033266 PMID:24342908 PMID:24501682 PMID:24668929 PMID:25146735 PMID:25289482 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26551090 PMID:26604951 PMID:26627451 PMID:27056980 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28378289 PMID:28492532 PMID:28498836 PMID:28725987 PMID:28810924 PMID:29595812 PMID:29807018 PMID:30715774
NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
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Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by OMIM:130000 ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:7695699 PMID:8218237 PMID:8575750 PMID:8752669 PMID:8923000 PMID:8950675 PMID:9042913 PMID:9683580 PMID:10471441 PMID:10602121 PMID:10777716 PMID:10796876 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15264295 PMID:15580559 PMID:19019335 PMID:19344236 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24088041 PMID:24685354 PMID:24951259 PMID:25741868 PMID:26188975 PMID:26608033 PMID:26633545 PMID:26854089 PMID:27011056 PMID:28454995 PMID:28485813 PMID:28492532 PMID:28550590 PMID:28714197 PMID:28750028 PMID:29924831 PMID:30858776 PMID:31064749 PMID:31903434 PMID:32581362 PMID:32720758
NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
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Col5a2
collagen type V alpha 2 chain
ISO ISS
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type OMIM:130000
ClinVar MouseDO
PMID:2855059 PMID:7695699 PMID:8218237 PMID:9425231 PMID:9783710 PMID:11940702 PMID:15580559 PMID:19344236 PMID:20301422 PMID:22696272 PMID:23587214 PMID:25741868 PMID:28132693 PMID:28492532 PMID:28550590 PMID:28991257
NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
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Dbh
dopamine beta-hydroxylase
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
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Ddx31
DEAD-box helicase 31
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:7,422,871...7,488,299
Ensembl chr 3:7,422,820...7,488,617
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Fam163b
family with sequence similarity 163, member B
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:5,656,400...5,693,273
Ensembl chr 3:5,656,163...5,693,147
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Fcnb
ficolin B
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:6,617,816...6,626,193
Ensembl chr 3:6,617,751...6,626,284
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
NCBI chr X:156,460,785...156,487,245
Ensembl chr X:156,463,953...156,487,245
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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 3:7,076,582...7,079,652
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Gfi1b
growth factor independent 1B transcriptional repressor
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
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Glt6d1
glycosyltransferase 6 domain containing 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:3,255,645...3,266,276
Ensembl chr 3:3,255,638...3,266,260
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Gtf3c4
general transcription factor IIIC subunit 4
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:7,404,857...7,422,779
Ensembl chr 3:7,404,841...7,422,738
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Gtf3c5
general transcription factor IIIC subunit 5
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:7,144,354...7,164,678
Ensembl chr 3:7,144,250...7,164,654
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Kcnt1
potassium sodium-activated channel subfamily T member 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
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Lcn9
lipocalin 9
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:3,272,150...3,274,792
Ensembl chr 3:3,272,193...3,274,547
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Lum
lumican
ISS
OMIM:130000
MouseDO
NCBI chr 7:38,820,058...38,826,862
Ensembl chr 7:38,819,771...38,826,862
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr X:71,174,653...71,197,812
Ensembl chr X:71,174,699...71,197,812
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Med22
mediator complex subunit 22
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:5,453,678...5,458,760
Ensembl chr 3:5,453,614...5,458,782
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Med27
mediator complex subunit 27
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:7,884,793...8,059,003
Ensembl chr 3:7,884,822...8,059,003
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Mrps2
mitochondrial ribosomal protein S2
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:7,051,695...7,056,726
Ensembl chr 3:7,051,695...7,058,521
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Myh11
myosin heavy chain 11
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:25741868
NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
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Mymk
myomaker, myoblast fusion factor
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:5,608,243...5,617,689
Ensembl chr 3:5,608,243...5,617,225
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Ntng2
netrin G2
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:7,742,511...7,800,834
Ensembl chr 3:7,742,531...7,796,385
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Obp2a
odorant binding protein 2A
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:2,908,684...2,913,362
Ensembl chr 3:2,910,083...2,913,362
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Olfm1
olfactomedin 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:6,761,031...6,798,739
Ensembl chr 3:6,773,813...6,798,737
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Paep
progestagen associated endometrial protein
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:2,935,396...2,938,883
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Pomt1
protein-O-mannosyltransferase 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
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Ppp1r26
protein phosphatase 1, regulatory subunit 26
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:7,032,118...7,040,615
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Ralgds
ral guanine nucleotide dissociation stimulator
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:7,090,134...7,130,548
Ensembl chr 3:7,109,920...7,130,548
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Rapgef1
Rap guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:8,189,594...8,307,077
Ensembl chr 3:8,192,575...8,304,976
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Rexo4
REX4 homolog, 3'-5' exonuclease
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:5,500,578...5,510,908
Ensembl chr 3:5,500,589...5,510,908
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RGD1306233
similar to hypothetical protein MGC29761
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:7,047,603...7,051,953
Ensembl chr 3:7,047,603...7,051,953
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Rpl7a
ribosomal protein L7a
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:5,458,985...5,461,627
Ensembl chr 3:5,459,160...5,461,583 Ensembl chr 3:5,459,160...5,461,583
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Rxra
retinoid X receptor alpha
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:6,272,560...6,295,354
Ensembl chr 3:6,211,789...6,295,908
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Sardh
sarcosine dehydrogenase
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:5,737,203...5,802,153
Ensembl chr 3:5,737,200...5,802,129
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Setx
senataxin
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
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Sgce
sarcoglycan, epsilon
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 4:29,726,140...29,769,902
Ensembl chr 4:29,726,146...29,778,039
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Slc2a10
solute carrier family 2 member 10
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
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Slc2a6
solute carrier family 2 member 6
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:5,567,729...5,575,144
Ensembl chr 3:5,568,321...5,575,136
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Sohlh1
spermatogenesis and oogenesis specific basic helix-loop-helix 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:3,290,766...3,295,226
Ensembl chr 3:3,291,084...3,295,101
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Spaca9
sperm acrosome associated 9
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:7,269,851...7,279,253
Ensembl chr 3:7,269,853...7,278,758
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Stkld1
serine/threonine kinase-like domain containing 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:5,481,524...5,500,568
Ensembl chr 3:5,481,522...5,500,583
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Surf1
SURF1, cytochrome c oxidase assembly factor
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632
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Surf2
surfeit 2
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:5,464,593...5,468,426
Ensembl chr 3:5,464,424...5,468,244
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Surf4
surfeit 4
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:5,468,284...5,481,447
Ensembl chr 3:5,461,770...5,483,239
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Surf6
surfeit 6
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:5,441,404...5,452,156
Ensembl chr 3:5,441,409...5,452,156
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Tgfbr1
transforming growth factor, beta receptor 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:30675029
NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
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Tsc1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
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Ttf1
transcription termination factor 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:7,635,630...7,660,153
Ensembl chr 3:7,635,933...7,660,673
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Uck1
uridine-cytidine kinase 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:11,271,874...11,277,757
Ensembl chr 3:11,271,885...11,277,757
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Vav2
vav guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:5,811,504...5,976,311
Ensembl chr 3:5,811,504...5,976,244
G
Vegp2
von Ebners gland protein 2
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:4,217,260...4,221,330
Ensembl chr 3:4,217,260...4,221,330
G
Wdr5
WD repeat domain 5
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar
PMID:28492532
NCBI chr 3:6,061,892...6,080,724
Ensembl chr 3:6,061,940...6,080,680
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