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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:Ehlers-Danlos syndrome classic type 1
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Accession:DOID:14720 term browser 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
 broad_synonym: COL5A1-RELATED CONDITION
 primary_id: MESH:C536194
 alt_id: OMIM:130000
 xref: NCI:C125696
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Ehlers-Danlos syndrome classic type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,250,401...133,275,201
Ensembl chr 9:133,233,278...133,276,024 		JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,414,337...133,459,386
Ensembl chr 9:133,414,358...133,459,402 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G AEBP1 AE binding protein 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:25741868 PMID:30759870 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562 		JBrowse link
G AK8 adenylate kinase 8 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,725,578...132,879,046
Ensembl chr 9:132,725,578...132,878,777 		JBrowse link
G BARHL1 BarH like homeobox 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,582,606...132,590,252
Ensembl chr 9:132,582,606...132,590,252 		JBrowse link
G BRD3 bromodomain containing 3 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:134,030,305...134,068,548
Ensembl chr 9:134,030,305...134,068,535 		JBrowse link
G C9orf163 chromosome 9 putative open reading frame 163 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:136,483,495...136,486,067
Ensembl chr 9:136,483,495...136,486,067 		JBrowse link
G CACFD1 calcium channel flower domain containing 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,459,978...133,470,848
Ensembl chr 9:133,459,965...133,470,848 		JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:135,808,487...135,907,546
Ensembl chr 9:135,808,487...135,907,546 		JBrowse link
G CARD9 caspase recruitment domain family member 9 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681 		JBrowse link
G CASD1 CAS1 domain containing 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 7:94,509,809...94,634,172
Ensembl chr 7:94,509,219...94,557,019 		JBrowse link
G CEL carboxyl ester lipase IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861 		JBrowse link
G CFAP77 cilia and flagella associated protein 77 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,410,211...132,573,319
Ensembl chr 9:132,410,043...132,573,319 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP 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 chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP 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
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
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, 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, classic type | 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, 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, 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:1978725 PMID:2985635 PMID:2993307 PMID:3372533 PMID:4795106 More... NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1		 ClinVar PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP
EXP
ISS		 ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE
ClinVar Annotator: match by term: EDS I
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE
OMIM:130000
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: EDS I | 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: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1		 ClinVar
CTD
OMIM
MouseDO		 PMID:7695699 PMID:8218237 PMID:8575750 PMID:8752669 PMID:8923000 More... NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A1-AS1 COL5A1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:23587214 PMID:28492532 NCBI chr 9:134,649,385...134,652,843
Ensembl chr 9:134,649,385...134,653,073 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP
ISS		 ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
OMIM:130000
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: EDS I
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: EDS I | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1
ClinVar Annotator: match by term: EDS I | 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, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1		 ClinVar
MouseDO		 PMID:2855059 PMID:7695699 PMID:8218237 PMID:9425231 PMID:9536098 More... NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G DBH dopamine beta-hydroxylase IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329 		JBrowse link
G DDX31 DEAD-box helicase 31 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,592,997...132,669,983
Ensembl chr 9:132,592,997...132,670,401 		JBrowse link
G DNLZ DNL-type zinc finger IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:136,359,483...136,363,744
Ensembl chr 9:136,359,480...136,363,744 		JBrowse link
G ENTR1 endosome associated trafficking regulator 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:136,401,922...136,410,614
Ensembl chr 9:136,401,922...136,410,614 		JBrowse link
G FAM163B family with sequence similarity 163 member B IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,577,081...133,609,389
Ensembl chr 9:133,577,081...133,609,389 		JBrowse link
G FCN1 ficolin 1 IAGP ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1		 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:134,903,232...134,917,912
Ensembl chr 9:134,903,232...134,917,912 		JBrowse link
G FCN2 ficolin 2 IAGP 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 9:134,864,144...134,887,523
Ensembl chr 9:134,880,810...134,887,523 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,152,948...133,163,914
Ensembl chr 9:133,152,948...133,163,933 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687 		JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 IAGP 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 9:135,623,648...135,641,216
Ensembl chr 9:135,623,648...135,639,540 		JBrowse link
G GPSM1 G protein signaling modulator 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:136,327,539...136,359,601
Ensembl chr 9:136,327,476...136,359,605 		JBrowse link
G GTF3C4 general transcription factor IIIC subunit 4 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,670,035...132,694,955
Ensembl chr 9:132,670,035...132,694,953 		JBrowse link
G GTF3C5 general transcription factor IIIC subunit 5 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,030,708...133,058,503
Ensembl chr 9:133,030,675...133,058,503 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP 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 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508 		JBrowse link
G LCN1 lipocalin 1 IAGP 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 9:135,521,440...135,526,540
Ensembl chr 9:135,521,438...135,526,540 		JBrowse link
G LCN9 lipocalin 9 IAGP ClinVar Annotator: match by term: EDS I
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1		 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:135,663,309...135,666,961
Ensembl chr 9:135,663,309...135,666,961 		JBrowse link
G LHX3 LIM homeobox 3 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G LINC02907 long intergenic non-protein coding RNA 2907 IAGP 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 9:135,343,249...135,346,562
Ensembl chr 9:135,343,249...135,346,562 		JBrowse link
G LOC101448202 uncharacterized LOC101448202 IAGP 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, 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, 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, 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 PMID:7695699 PMID:8218237 PMID:8923000 PMID:9042913 PMID:9536098 More... NCBI chr 9:134,819,415...134,872,618 JBrowse link
G LOC126862586 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:16786509 PMID:28492532 NCBI chr17:50,196,341...50,197,540 JBrowse link
G LOC130002964 ATAC-STARR-seq lymphoblastoid active region 29286 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1		 ClinVar PMID:23587214 PMID:28492532 NCBI chr 9:134,766,557...134,766,816 JBrowse link
G LUM lumican ISS OMIM:130000 MouseDO NCBI chr12:91,102,629...91,111,494
Ensembl chr12:91,102,629...91,111,494 		JBrowse link
G MED12 mediator complex subunit 12 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MED22 mediator complex subunit 22 IAGP ClinVar Annotator: match by term: EDS I ClinVar PMID:28492532 NCBI chr 9:133,338,312...133,348,131
Ensembl chr 9:133,338,312...133,348,131 		JBrowse link
G MED27 mediator complex subunit 27 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:131,860,112...132,079,867
Ensembl chr 9:131,852,928...132,079,867 		JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 IAGP 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 9:135,499,965...135,504,673
Ensembl chr 9:135,499,984...135,504,673 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:25741868 PMID:28492532 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G NACC2 NACC family member 2 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:136,006,537...136,095,289
Ensembl chr 9:136,006,537...136,095,289 		JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NTNG2 netrin G2 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,161,689...132,244,526
Ensembl chr 9:132,162,058...132,244,526 		JBrowse link
G OBP2A odorant binding protein 2A IAGP 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 9:135,546,126...135,549,969
Ensembl chr 9:135,546,126...135,549,969 		JBrowse link
G OBP2B odorant binding protein 2B IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,205,279...133,223,255
Ensembl chr 9:133,205,277...133,209,250 		JBrowse link
G OLFM1 olfactomedin 1 IAGP 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 9:135,075,505...135,121,184
Ensembl chr 9:135,075,422...135,121,180 		JBrowse link
G PAEP progestagen associated endometrial protein IAGP 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 9:135,561,756...135,566,955
Ensembl chr 9:135,561,756...135,566,955 		JBrowse link
G PIERCE1 piercer of microtubule wall 1 IAGP 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 9:135,495,181...135,499,869
Ensembl chr 9:135,495,181...135,501,734 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G PPP1R26 protein phosphatase 1 regulatory subunit 26 IAGP 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 9:135,479,066...135,488,892
Ensembl chr 9:135,479,079...135,488,893 		JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:136,206,333...136,245,812
Ensembl chr 9:136,206,333...136,245,812 		JBrowse link
G RALGDS ral guanine nucleotide dissociation stimulator IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,097,722...133,149,210
Ensembl chr 9:133,097,720...133,149,334 		JBrowse link
G RAPGEF1 Rap guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:131,576,775...131,740,076
Ensembl chr 9:131,576,770...131,740,076 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,406,058...133,418,172
Ensembl chr 9:133,406,059...133,418,096 		JBrowse link
G RNU6ATAC RNA, U6atac small nuclear IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:134,164,440...134,164,564
Ensembl chr 9:134,164,439...134,164,564 		JBrowse link
G RPL7A ribosomal protein L7a IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,348,218...133,351,426
Ensembl chr 9:133,348,218...133,351,426 		JBrowse link
G RXRA retinoid X receptor alpha IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585 		JBrowse link
G SARDH sarcosine dehydrogenase IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,659,418...133,739,955
Ensembl chr 9:133,663,560...133,739,955 		JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:136,440,105...136,484,740
Ensembl chr 9:136,440,096...136,483,759 		JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986 		JBrowse link
G SGCE sarcoglycan epsilon IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 7:94,584,980...94,656,133
Ensembl chr 7:94,524,204...94,656,572 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G SLC2A6 solute carrier family 2 member 6 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,471,094...133,479,099
Ensembl chr 9:133,471,094...133,479,127 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:136,375,571...136,400,170
Ensembl chr 9:136,375,567...136,400,176 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP 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 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SPACA9 sperm acrosome associated 9 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 NCBI chr 9:132,878,344...132,890,314
Ensembl chr 9:132,878,027...132,890,201 		JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,376,366...133,406,096
Ensembl chr 9:133,376,366...133,406,096 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
G SURF2 surfeit 2 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,356,550...133,361,158
Ensembl chr 9:133,356,550...133,361,158 		JBrowse link
G SURF4 surfeit 4 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,361,464...133,377,949
Ensembl chr 9:133,361,450...133,376,166 		JBrowse link
G SURF6 surfeit 6 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,328,776...133,336,188
Ensembl chr 9:133,328,776...133,336,188 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:30675029 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TMEM250 transmembrane protein 250 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:136,107,767...136,118,875
Ensembl chr 9:136,114,581...136,118,875 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TTF1 transcription termination factor 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,375,548...132,406,840
Ensembl chr 9:132,375,548...132,406,851 		JBrowse link
G UBAC1 UBA domain containing 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:135,932,969...135,961,373
Ensembl chr 9:135,932,969...135,961,373 		JBrowse link
G UCK1 uridine-cytidine kinase 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:131,523,801...131,531,263
Ensembl chr 9:131,523,801...131,531,264 		JBrowse link
G VAV2 vav guanine nucleotide exchange factor 2 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,761,894...133,992,324
Ensembl chr 9:133,761,894...133,992,604 		JBrowse link
G WDR5 WD repeat domain 5 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:134,135,199...134,159,968
Ensembl chr 9:134,135,365...134,159,968 		JBrowse link
G WDR75 WD repeat domain 75 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr 2:189,441,474...189,475,552
Ensembl chr 2:189,441,446...189,475,552 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    syndrome 18145
      Ehlers-Danlos syndrome 297
        Ehlers-Danlos syndrome classic type 1 92
Path 2
Term Annotations click to browse term
  disease 35773
    Pathological Conditions, Signs and Symptoms 21536
      Signs and Symptoms 16400
        Neurologic Manifestations 15470
          sensory system disease 9826
            skin disease 4968
              Skin Abnormalities 1804
                Ehlers-Danlos syndrome 297
                  Ehlers-Danlos syndrome classic type 1 92
paths to the root