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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: MIM: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 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,746,749...49,758,317
Ensembl chr 9:49,748,693...49,758,479 		JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295 		JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,925,738...49,958,870
Ensembl chr 9:49,925,755...49,958,300 		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
G AK8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,470,688...51,598,787
Ensembl chr 9:51,470,756...51,598,786 		JBrowse link
G BARHL1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,704,590...51,711,726
Ensembl chr 9:51,703,936...51,712,093 		JBrowse link
G BRD3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:50,290,488...50,322,243
Ensembl chr 9:50,288,240...50,322,127 		JBrowse link
G CACFD1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,868,218...49,878,254 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 9:49,458,701...49,523,056
Ensembl chr 9:49,458,694...49,521,332 		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 9:49,110,913...49,120,758
Ensembl chr 9:49,113,923...49,120,591 		JBrowse link
G CASD1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 NCBI chr14:19,975,393...20,026,705
Ensembl chr14:19,977,088...20,025,712 		JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,337,205...51,345,284
Ensembl chr 9:51,337,187...51,362,422 		JBrowse link
G CFAP77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,721,893...51,852,212
Ensembl chr 9:51,721,839...51,852,453 		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, 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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927 		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 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 PMID:458828 PMID:1978725 PMID:1990009 PMID:2010058 PMID:2052622 More... NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527 		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 chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
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, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1		 OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:8575750 PMID:8923000 PMID:8950675 More... NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar 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: 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, 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 PMID:2855059 PMID:7695699 PMID:8218237 PMID:9425231 PMID:9536098 More... NCBI chr36:30,538,863...30,677,450
Ensembl chr36:30,540,229...30,691,564 		JBrowse link
G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130 		JBrowse link
G DDX31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,631,608...51,700,747
Ensembl chr 9:51,629,757...51,699,301 		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 9:49,120,802...49,122,789
Ensembl chr 9:49,120,818...49,122,804 		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 9:49,083,368...49,089,608
Ensembl chr 9:49,083,499...49,089,023 		JBrowse link
G FAM163B family with sequence similarity 163 member B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,960,093...49,988,263
Ensembl chr 9:49,961,706...49,962,807 		JBrowse link
G FCN2 ficolin 2 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 9:50,868,942...50,876,001
Ensembl chr 9:50,868,973...50,875,792 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,274,811...51,284,131
Ensembl chr 9:51,274,686...51,284,122 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,380,697...51,394,679
Ensembl chr 9:51,380,696...51,392,812 		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 9:49,638,849...49,649,980
Ensembl chr 9:49,639,072...49,649,399 		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 9:49,124,828...49,152,079
Ensembl chr 9:49,118,627...49,152,208 		JBrowse link
G GTF3C4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,602,025...51,630,139
Ensembl chr 9:51,606,235...51,630,637 		JBrowse link
G GTF3C5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,347,273...51,362,621
Ensembl chr 9:51,337,187...51,362,422 		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 9:49,061,014...49,071,474
Ensembl chr 9:49,061,968...49,070,191 		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 9:49,532,073...49,581,332
Ensembl chr 9:49,532,922...49,593,633 		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 9:49,632,813...49,636,854
Ensembl chr 9:49,632,799...49,637,517 		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 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118 		JBrowse link
G LOC119873506 U6atac minor spliceosomal RNA ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532
G LOC491263 beta-lactoglobulin-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 9:49,663,646...49,667,034 JBrowse link
G LUM lumican ISO OMIM:130000 MouseDO NCBI chr15:31,792,872...31,800,444
Ensembl chr15:31,793,233...31,800,912 		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:55,487,629...55,508,941
Ensembl chr  X:55,482,013...55,509,992 		JBrowse link
G MED22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,777,374...49,783,501 JBrowse link
G MED27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:52,136,652...52,331,676
Ensembl chr 9:52,136,698...52,328,998 		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 9:51,211,701...51,214,465
Ensembl chr 9:51,211,627...51,214,475 		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 chr 6:28,041,330...28,157,277
Ensembl chr 6:28,041,318...28,262,184 		JBrowse link
G MYMK myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,905,580...49,919,849
Ensembl chr 9:49,907,228...49,921,007 		JBrowse link
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:49,323,613...49,393,017
Ensembl chr 9:49,363,280...49,389,508 		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 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277 		JBrowse link
G NTNG2 netrin G2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,994,593...52,004,620 JBrowse link
G OBP2B odorant binding protein 2B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 9:49,707,505...49,709,999
Ensembl chr 9:49,706,531...49,710,097 		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 9:50,972,035...50,996,770
Ensembl chr 9:50,979,146...50,996,602 		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 9:51,207,491...51,209,955
Ensembl chr 9:51,207,493...51,210,257 		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 9:49,073,124...49,083,302
Ensembl chr 9:49,073,108...49,224,961 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836 		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 9:51,196,524...51,204,311
Ensembl chr 9:51,199,252...51,202,800 		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 9:49,213,295...49,245,164
Ensembl chr 9:49,213,295...49,245,176 		JBrowse link
G RALGDS ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,287,252...51,329,997 JBrowse link
G RAPGEF1 Rap guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 NCBI chr 9:52,429,204...52,566,775
Ensembl chr 9:52,450,597...52,563,778 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,827,584...49,834,872
Ensembl chr 9:49,828,067...49,836,632 		JBrowse link
G RPL7A ribosomal protein L7a ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,783,635...49,786,328
Ensembl chr 9:49,783,635...49,786,328 		JBrowse link
G RXRA retinoid X receptor alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:50,525,195...50,575,720
Ensembl chr 9:50,484,567...50,573,119 		JBrowse link
G SARDH sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:50,030,397...50,093,556
Ensembl chr 9:50,030,707...50,091,553 		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 9:49,027,190...49,060,858
Ensembl chr 9:49,031,669...49,060,848 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,900,004...51,980,694
Ensembl chr 9:51,901,233...51,978,833 		JBrowse link
G SGCE sarcoglycan epsilon ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr14:20,052,778...20,121,252
Ensembl chr14:20,052,776...20,121,193 		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 chr24:33,905,099...33,920,604
Ensembl chr24:33,905,203...33,919,454 		JBrowse link
G SLC2A6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,878,325...49,885,549
Ensembl chr 9:49,878,634...49,885,696 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr37:308,054...329,037
Ensembl chr37:303,104...368,865 		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 9:49,090,615...49,110,763
Ensembl chr 9:49,091,636...49,110,767 		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 9:49,593,740...49,598,279
Ensembl chr 9:49,593,703...49,599,113 		JBrowse link
G SPACA9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,460,359...51,470,612
Ensembl chr 9:51,460,623...51,468,902 		JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,807,272...49,827,611
Ensembl chr 9:49,807,250...49,827,567 		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 9:49,786,562...49,790,004
Ensembl chr 9:49,786,085...49,790,148 		JBrowse link
G SURF2 surfeit 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,790,187...49,794,102
Ensembl chr 9:49,790,186...49,793,623 		JBrowse link
G SURF4 surfeit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,793,971...49,806,226
Ensembl chr 9:49,795,890...49,799,319 		JBrowse link
G SURF6 surfeit 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:49,769,338...49,774,136 JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 PMID:30675029 NCBI chr11:56,191,383...56,223,042
Ensembl chr11:56,161,772...56,218,594 		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 9:49,308,397...49,311,360
Ensembl chr 9:49,308,350...49,311,487 		JBrowse link
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677 		JBrowse link
G TTF1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:51,855,565...51,881,000
Ensembl chr 9:51,855,559...51,878,459 		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 9:49,423,924...49,444,589
Ensembl chr 9:49,423,408...49,444,585 		JBrowse link
G UCK1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:52,609,972...52,615,655
Ensembl chr 9:52,609,313...52,614,622 		JBrowse link
G VAV2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:50,103,004...50,232,753
Ensembl chr 9:50,094,447...50,230,954 		JBrowse link
G WDR5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:50,352,600...50,371,224
Ensembl chr 9:50,352,472...50,371,236 		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 chr37:157,400...191,127
Ensembl chr37:157,455...190,916 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15757
    syndrome 10623
      Ehlers-Danlos syndrome 256
        Ehlers-Danlos syndrome classic type 1 83
Path 2
Term Annotations click to browse term
  disease 15757
    Pathological Conditions, Signs and Symptoms 12322
      Signs and Symptoms 10321
        Neurologic Manifestations 10003
          sensory system disease 7042
            skin disease 4110
              Skin Abnormalities 1304
                Ehlers-Danlos syndrome 256
                  Ehlers-Danlos syndrome classic type 1 83
paths to the root