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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 spondylodysplastic type 2
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Accession:DOID:0050802 term browser browse the term
Definition:An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. (DO)
Synonyms:exact_synonym: EDSP2;   EDSSPD2;   Ehlers-Danlos syndrome progeroid type;   Ehlers-Danlos syndrome, progeroid type, 2
 broad_synonym: Ehlers-Danlos syndrome, progeroid form;   progeroid variant of Ehlers-Danlos syndrome
 primary_id: OMIM:615349
 xref: ORDO:75496


show annotations for term's descendants           Sort by:
Ehlers-Danlos syndrome spondylodysplastic type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 IAGP 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 1:1,292,391...1,307,930
Ensembl chr 1:1,292,390...1,309,609 		JBrowse link
G ACTRT2 actin related protein T2 IAGP 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 1:3,021,467...3,022,903
Ensembl chr 1:3,021,467...3,022,903 		JBrowse link
G AGRN agrin IAGP 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 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 IAGP 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 1:1,418,420...1,421,276
Ensembl chr 1:1,418,420...1,421,769 		JBrowse link
G ARHGEF16 Rho guanine nucleotide exchange factor 16 IAGP 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 1:3,454,665...3,481,113
Ensembl chr 1:3,454,665...3,481,113 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP 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 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G ATAD3B ATPase family AAA domain containing 3B IAGP 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 1:1,471,765...1,509,466
Ensembl chr 1:1,471,765...1,497,848 		JBrowse link
G ATAD3C ATPase family AAA domain containing 3C IAGP 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 1:1,449,689...1,470,163
Ensembl chr 1:1,449,689...1,470,163 		JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 IAGP 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 1:1,373,736...1,375,207
Ensembl chr 1:1,373,730...1,375,207 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar
OMIM		 PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:23664117 More... NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2		 ClinVar PMID:1221956 PMID:1640425 PMID:3631078 PMID:9536098 PMID:10473568 More... NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330 		JBrowse link
G C1orf159 chromosome 1 open reading frame 159 IAGP 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 1:1,081,823...1,116,089
Ensembl chr 1:1,081,818...1,116,361 		JBrowse link
G C1QTNF12 C1q and TNF related 12 IAGP 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 1:1,242,453...1,247,280
Ensembl chr 1:1,242,446...1,246,722 		JBrowse link
G CALML6 calmodulin like 6 IAGP 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 1:1,915,260...1,917,296
Ensembl chr 1:1,915,108...1,917,296 		JBrowse link
G CCDC27 coiled-coil domain containing 27 IAGP 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 1:3,752,450...3,771,645
Ensembl chr 1:3,746,460...3,771,645 		JBrowse link
G CCNL2 cyclin L2 IAGP 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 1:1,385,711...1,399,335
Ensembl chr 1:1,385,711...1,399,335 		JBrowse link
G CDK11A cyclin dependent kinase 11A IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,702,379...1,724,357
Ensembl chr 1:1,702,379...1,724,357 		JBrowse link
G CDK11B cyclin dependent kinase 11B IAGP 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 1:1,635,225...1,659,004
Ensembl chr 1:1,635,225...1,659,012 		JBrowse link
G CEP104 centrosomal protein 104 IAGP 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 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,396 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP 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 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837 		JBrowse link
G CLK4 CDC like kinase 4 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:178,602,664...178,627,050
Ensembl chr 5:178,602,664...178,630,615 		JBrowse link
G COL23A1 collagen type XXIII alpha 1 chain IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:178,237,618...178,590,393
Ensembl chr 5:178,237,476...178,590,393 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein IAGP 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 1:1,324,802...1,328,896
Ensembl chr 1:1,324,756...1,328,896 		JBrowse link
G DBN1 drebrin 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,456,610...177,473,634
Ensembl chr 5:177,456,608...177,474,401 		JBrowse link
G DDX41 DEAD-box helicase 41 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,511,577...177,516,961
Ensembl chr 5:177,511,577...177,516,961 		JBrowse link
G DOK3 docking protein 3 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,501,904...177,511,100
Ensembl chr 5:177,501,904...177,511,274 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP 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 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G EIF4E1B eukaryotic translation initiation factor 4E family member 1B IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:176,630,675...176,646,644
Ensembl chr 5:176,630,618...176,646,644 		JBrowse link
G F12 coagulation factor XII IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,133...177,416,583 		JBrowse link
G FAAP20 FA core complex associated protein 20 IAGP 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 1:2,184,477...2,212,720
Ensembl chr 1:2,184,461...2,212,720 		JBrowse link
G FAM153A family with sequence similarity 153 member A IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,694,247...177,783,425
Ensembl chr 5:177,707,981...177,784,435 		JBrowse link
G FAM193B family with sequence similarity 193 member B IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,519,788...177,554,563
Ensembl chr 5:177,519,789...177,554,586 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,086,915...177,098,144
Ensembl chr 5:177,086,905...177,098,144 		JBrowse link
G FNDC10 fibronectin type III domain containing 10 IAGP 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 1:1,598,012...1,600,135
Ensembl chr 1:1,598,012...1,600,135 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP 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 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP 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 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G GRK6 G protein-coupled receptor kinase 6 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,425,523...177,442,891
Ensembl chr 5:177,403,204...177,442,901 		JBrowse link
G GRM6 glutamate metabotropic receptor 6 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:178,978,327...178,995,320
Ensembl chr 5:178,977,587...178,996,206 		JBrowse link
G HES4 hes family bHLH transcription factor 4 IAGP 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 1:998,964...1,000,097
Ensembl chr 1:998,962...1,000,172 		JBrowse link
G HES5 hes family bHLH transcription factor 5 IAGP 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 1:2,528,745...2,530,263
Ensembl chr 1:2,528,745...2,530,263 		JBrowse link
G HK3 hexokinase 3 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:176,880,869...176,899,346
Ensembl chr 5:176,880,869...176,899,346 		JBrowse link
G HNRNPAB heterogeneous nuclear ribonucleoprotein A/B IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:178,204,533...178,211,163
Ensembl chr 5:178,204,533...178,211,163 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP 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 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G ISG15 ISG15 ubiquitin like modifier IAGP 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 1:1,013,497...1,014,540
Ensembl chr 1:1,001,138...1,014,540 		JBrowse link
G KLHL17 kelch like family member 17 IAGP 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 1:960,584...965,719
Ensembl chr 1:960,584...965,719 		JBrowse link
G LMAN2 lectin, mannose binding 2 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,331,567...177,351,668
Ensembl chr 5:177,315,805...177,351,840 		JBrowse link
G LOC129995400 ATAC-STARR-seq lymphoblastoid silent region 16704 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:31278392 PMID:31614862
G LRRC47 leucine rich repeat containing 47 IAGP 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 1:3,778,559...3,796,498
Ensembl chr 1:3,778,559...3,796,498 		JBrowse link
G MEGF6 multiple EGF like domains 6 IAGP 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 1:3,487,951...3,624,786
Ensembl chr 1:3,487,951...3,611,508 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 IAGP 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 1:1,613,731...1,630,605
Ensembl chr 1:1,615,454...1,630,605 		JBrowse link
G MIR200A microRNA 200a IAGP 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 1:1,167,863...1,167,952
Ensembl chr 1:1,167,863...1,167,952 		JBrowse link
G MIR200B microRNA 200b IAGP 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 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198 		JBrowse link
G MIR429 microRNA 429 IAGP 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 1:1,169,005...1,169,087
Ensembl chr 1:1,169,005...1,169,087 		JBrowse link
G MIR551A microRNA 551a IAGP 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 1:3,560,695...3,560,790
Ensembl chr 1:3,560,695...3,560,790 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP 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 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP 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 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263 		JBrowse link
G MORN1 MORN repeat containing 1 IAGP 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 1:2,321,253...2,391,554
Ensembl chr 1:2,321,253...2,391,707 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 IAGP 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 1:1,401,909...1,407,293
Ensembl chr 1:1,401,909...1,407,293 		JBrowse link
G MXD3 MAX dimerization protein 3 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,305,499...177,312,752
Ensembl chr 5:177,301,461...177,312,757 		JBrowse link
G MXRA8 matrix remodeling associated 8 IAGP 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 1:1,352,689...1,363,541
Ensembl chr 1:1,352,689...1,361,777 		JBrowse link
G N4BP3 NEDD4 binding protein 3 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:178,113,532...178,127,034
Ensembl chr 5:178,113,532...178,126,081 		JBrowse link
G NADK NAD kinase IAGP 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 1:1,751,232...1,780,514
Ensembl chr 1:1,751,232...1,780,457 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894 		JBrowse link
G NOC2L NOC2 like nucleolar associated transcriptional repressor IAGP 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 1:944,203...959,256
Ensembl chr 1:944,203...959,309 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) IAGP 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 1:2,508,537...2,526,596
Ensembl chr 1:2,508,537...2,526,597 		JBrowse link
G PDLIM7 PDZ and LIM domain 7 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,483,394...177,497,604
Ensembl chr 5:177,483,394...177,497,606 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP 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 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PFN3 profilin 3 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,400,109...177,400,661
Ensembl chr 5:177,400,109...177,400,661 		JBrowse link
G PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:178,207,144...178,232,822
Ensembl chr 5:178,208,471...178,232,802 		JBrowse link
G PLCH2 phospholipase C eta 2 IAGP 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 1:2,415,943...2,505,532
Ensembl chr 1:2,425,980...2,505,532 		JBrowse link
G PLEKHN1 pleckstrin homology domain containing N1 IAGP 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 1:966,482...975,865
Ensembl chr 1:966,482...975,865 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP 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 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PRELID1 PRELI domain containing 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,303,799...177,306,949
Ensembl chr 5:177,303,799...177,306,949 		JBrowse link
G PRKCZ protein kinase C zeta IAGP 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 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G PRR7 proline rich 7, synaptic IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,445,995...177,456,286
Ensembl chr 5:177,446,445...177,456,286 		JBrowse link
G PRXL2B peroxiredoxin like 2B IAGP 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 1:2,586,523...2,591,468
Ensembl chr 1:2,586,491...2,591,469 		JBrowse link
G PUSL1 pseudouridine synthase like 1 IAGP 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 1:1,308,597...1,311,677
Ensembl chr 1:1,308,597...1,311,677 		JBrowse link
G RAB24 RAB24, member RAS oncogene family IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,301,198...177,303,719
Ensembl chr 5:177,301,198...177,303,744 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 IAGP 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 1:2,391,841...2,405,436
Ensembl chr 1:2,391,775...2,405,442 		JBrowse link
G RGS14 regulator of G protein signaling 14 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,357,924...177,372,596
Ensembl chr 5:177,357,924...177,372,596 		JBrowse link
G RMND5B required for meiotic nuclear division 5 homolog B IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:178,131,014...178,150,568
Ensembl chr 5:178,130,996...178,150,568 		JBrowse link
G RNF223 ring finger protein 223 IAGP 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 1:1,070,967...1,074,306
Ensembl chr 1:1,070,967...1,074,306 		JBrowse link
G SAMD11 sterile alpha motif domain containing 11 IAGP 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 1:923,923...944,574
Ensembl chr 1:923,923...944,575 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta IAGP 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 1:1,280,436...1,292,025
Ensembl chr 1:1,280,436...1,292,029 		JBrowse link
G SDF4 stromal cell derived factor 4 IAGP 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 1:1,216,931...1,232,001
Ensembl chr 1:1,216,931...1,232,031 		JBrowse link
G SKI SKI proto-oncogene IAGP 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 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC35E2A solute carrier family 35 member E2A (pseudogene) IAGP 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 1:1,727,385...1,746,070
Ensembl chr 1:1,734,690...1,739,557 		JBrowse link
G SLC35E2B solute carrier family 35 member E2B IAGP 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 1:1,661,478...1,692,795
Ensembl chr 1:1,659,529...1,692,795 		JBrowse link
G SMIM1 small integral membrane protein 1 (Vel blood group) IAGP 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 1:3,772,749...3,775,956
Ensembl chr 1:3,772,749...3,775,982 		JBrowse link
G SNCB synuclein beta IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:176,620,082...176,630,534
Ensembl chr 5:176,620,082...176,630,556 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase IAGP 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 1:1,541,673...1,574,863
Ensembl chr 1:1,541,673...1,574,863 		JBrowse link
G TAS1R3 taste 1 receptor member 3 IAGP 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 1:1,331,280...1,335,314
Ensembl chr 1:1,331,280...1,335,314 		JBrowse link
G TMED9 transmembrane p24 trafficking protein 9 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,592,203...177,597,242
Ensembl chr 5:177,592,203...177,597,242 		JBrowse link
G TMEM240 transmembrane protein 240 IAGP 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 1:1,534,778...1,540,624
Ensembl chr 1:1,534,778...1,540,624 		JBrowse link
G TMEM52 transmembrane protein 52 IAGP 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 1:1,917,591...1,919,279
Ensembl chr 1:1,917,590...1,919,279 		JBrowse link
G TMEM88B transmembrane protein 88B IAGP 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 1:1,425,871...1,430,255
Ensembl chr 1:1,425,871...1,430,255 		JBrowse link
G TNFRSF14 TNF receptor superfamily member 14 IAGP 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 1:2,554,234...2,563,829
Ensembl chr 1:2,555,639...2,565,382 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 IAGP 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 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 IAGP 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 1:1,211,340...1,214,153
Ensembl chr 1:1,211,326...1,214,153 		JBrowse link
G TP73 tumor protein p73 IAGP 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 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
G TPRG1L tumor protein p63 regulated 1 like IAGP 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 1:3,625,015...3,630,127
Ensembl chr 1:3,625,015...3,630,127 		JBrowse link
G TSPAN17 tetraspanin 17 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:176,647,484...176,659,051
Ensembl chr 5:176,647,387...176,659,054 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 IAGP 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 1:2,636,986...2,801,693
Ensembl chr 1:2,636,986...2,801,693 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 IAGP 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 1:1,173,880...1,197,936
Ensembl chr 1:1,173,880...1,197,936 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 IAGP 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 1:1,253,912...1,273,854
Ensembl chr 1:1,253,909...1,273,864 		JBrowse link
G UIMC1 ubiquitin interaction motif containing 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:176,905,005...177,022,602
Ensembl chr 5:176,905,005...177,022,633 		JBrowse link
G UNC5A unc-5 netrin receptor A IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:176,810,559...176,880,898
Ensembl chr 5:176,810,519...176,880,898 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 IAGP 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 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882 		JBrowse link
G WRAP73 WD repeat containing, antisense to TP73 IAGP 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 1:3,630,770...3,650,103
Ensembl chr 1:3,630,767...3,652,761 		JBrowse link
G ZFP2 ZFP2 zinc finger protein IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:178,895,913...178,933,212
Ensembl chr 5:178,895,898...178,933,212 		JBrowse link
G ZNF346 zinc finger protein 346 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:177,022,696...177,081,189
Ensembl chr 5:177,022,696...177,081,189 		JBrowse link
G ZNF354A zinc finger protein 354A IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:178,711,512...178,730,659
Ensembl chr 5:178,711,512...178,730,659 		JBrowse link
G ZNF354B zinc finger protein 354B IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:178,859,953...178,885,020
Ensembl chr 5:178,859,953...178,888,122 		JBrowse link
G ZNF454 zinc finger protein 454 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 5:178,941,198...178,990,028
Ensembl chr 5:178,941,191...178,966,433 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18073
      Ehlers-Danlos syndrome 297
        Ehlers-Danlos syndrome spondylodysplastic type 2 117
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9728
            skin disease 4874
              Skin Abnormalities 1802
                Ehlers-Danlos syndrome 297
                  Ehlers-Danlos syndrome spondylodysplastic type 2 117
paths to the root