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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:Primary Lymphedema with Myelodysplasia
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Accession:DOID:9008754 term browser browse the term
Synonyms:exact_synonym: Emberger syndrome
 primary_id: MIM:614038


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Primary Lymphedema with Myelodysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abtb1 ankyrin repeat and BTB domain containing 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:15,964,584...15,968,604
Ensembl chrNW_004955429:15,964,908...15,968,525
JBrowse link
G Acad11 acyl-CoA dehydrogenase family member 11 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:5,871,328...5,952,786
Ensembl chrNW_004955501:5,871,113...5,952,909
JBrowse link
G Acad9 acyl-CoA dehydrogenase family member 9 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chrNW_004955450:10,576,615...10,603,779 JBrowse link
G Ackr4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:5,922,727...5,928,735
Ensembl chrNW_004955501:5,922,734...5,928,735
JBrowse link
G Acp3 acid phosphatase 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:6,168,083...6,218,934
Ensembl chrNW_004955501:6,164,152...6,218,967
JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family member L1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955421:21,420,264...21,506,004
Ensembl chrNW_004955421:21,420,147...21,527,037
JBrowse link
G Amotl2 angiomotin like 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:4,192,339...4,209,150
Ensembl chrNW_004955501:4,192,063...4,211,562
JBrowse link
G Anapc13 anaphase promoting complex subunit 13 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:4,096,026...4,103,212
Ensembl chrNW_004955501:4,096,026...4,103,212
JBrowse link
G Argfx arginine-fifty homeobox ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:20,965,012...20,969,269 JBrowse link
G Aste1 asteroid homolog 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:7,373,713...7,383,092 JBrowse link
G Atp2c1 ATPase secretory pathway Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chrNW_004955501:7,382,657...7,519,789
Ensembl chrNW_004955501:7,383,150...7,519,988
JBrowse link
G Bfsp2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:5,083,456...5,145,256
Ensembl chrNW_004955501:5,083,456...5,145,256
JBrowse link
G Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210
JBrowse link
G Ccdc14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955427:23,043,001...23,095,201
Ensembl chrNW_004955427:23,042,648...23,095,151
JBrowse link
G Cd86 CD86 molecule ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874
JBrowse link
G Cdv3 CDV3 homolog ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:4,984,239...4,999,414
Ensembl chrNW_004955501:4,981,664...4,999,745
JBrowse link
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:4,032,281...4,095,990
Ensembl chrNW_004955501:4,032,223...4,095,970
JBrowse link
G Cfap100 cilia and flagella associated protein 100 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955421:21,652,655...21,685,866
Ensembl chrNW_004955421:21,652,750...21,685,770
JBrowse link
G Cfap92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955450:10,532,347...10,593,351 JBrowse link
G Chchd6 coiled-coil-helix-coiled-coil-helix domain containing 6 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955429:16,546,397...16,786,139
Ensembl chrNW_004955429:16,546,352...16,786,632
JBrowse link
G Chst13 carbohydrate sulfotransferase 13 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955421:21,770,083...21,787,563 JBrowse link
G Cnbp CCHC-type zinc finger nucleic acid binding protein ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:13,537,222...13,582,026
Ensembl chrNW_004955429:13,537,222...13,549,520
JBrowse link
G Col6a6 collagen type VI alpha 6 chain ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chrNW_004955501:7,683,344...7,816,859
Ensembl chrNW_004955501:7,685,029...7,775,899
JBrowse link
G Copg1 COPI coat complex subunit gamma 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:13,582,676...13,615,801
Ensembl chrNW_004955429:13,578,494...13,616,463
JBrowse link
G Cpne4 copine 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:6,473,669...6,941,617
Ensembl chrNW_004955501:6,493,225...6,941,914
JBrowse link
G Csta cystatin A ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:21,617,099...21,630,712
Ensembl chrNW_004955427:21,617,054...21,630,773
JBrowse link
G Dnajb8 DnaJ heat shock protein family (Hsp40) member B8 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:2322343 PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 More... NCBI chrNW_004955429:15,349,346...15,350,343
Ensembl chrNW_004955429:15,349,564...15,350,268
JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:5,980,407...6,111,424
Ensembl chrNW_004955501:5,976,182...6,093,384
JBrowse link
G Dtx3l deltex E3 ubiquitin ligase 3L ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:21,806,170...21,812,701
Ensembl chrNW_004955427:21,806,192...21,815,031
JBrowse link
G Eaf2 ELL associated factor 2 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:21,171,900...21,204,138
Ensembl chrNW_004955427:21,172,009...21,204,051
JBrowse link
G Eefsec eukaryotic elongation factor, selenocysteine-tRNA specific ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More... NCBI chrNW_004955429:15,381,257...15,598,355
Ensembl chrNW_004955429:15,380,601...15,585,866
JBrowse link
G Efcab12 EF-hand calcium binding domain 12 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:17,870,292...17,877,846 JBrowse link
G Efcc1 EF-hand and coiled-coil domain containing 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955450:10,494,407...10,523,125 JBrowse link
G Ephb1 EPH receptor B1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:3,424,112...3,821,727
Ensembl chrNW_004955501:3,423,977...3,821,890
JBrowse link
G Fam162a family with sequence similarity 162 member A ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:21,668,180...21,695,004
Ensembl chrNW_004955427:21,667,922...21,694,844
JBrowse link
G Fbxo40 F-box protein 40 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:20,979,180...20,996,654
Ensembl chrNW_004955427:20,979,180...20,998,977
JBrowse link
G Fstl1 follistatin like 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:19,952,823...20,003,832
Ensembl chrNW_004955427:19,952,853...20,004,241
JBrowse link
G Gata2 GATA binding protein 2 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar
OMIM
PMID:453969 PMID:2322343 PMID:2543925 PMID:4508672 PMID:8701948 More... NCBI chrNW_004955429:15,326,551...15,334,774
Ensembl chrNW_004955429:15,327,113...15,336,460
JBrowse link
G Golgb1 golgin B1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:21,022,369...21,108,448
Ensembl chrNW_004955427:21,021,894...21,105,049
JBrowse link
G Gp9 glycoprotein IX platelet ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955450:10,478,165...10,479,425
Ensembl chrNW_004955450:10,478,165...10,479,425
JBrowse link
G Gtf2e1 general transcription factor IIE subunit 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:20,242,326...20,273,314
Ensembl chrNW_004955427:20,241,774...20,273,551
JBrowse link
G Hacd2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955427:22,642,509...22,733,170
Ensembl chrNW_004955427:22,642,478...22,734,271
JBrowse link
G Hcls1 hematopoietic cell-specific Lyn substrate 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:20,999,934...21,020,401
Ensembl chrNW_004955427:20,999,485...21,020,531
JBrowse link
G Heg1 heart development protein with EGF like domains 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955427:24,035,193...24,115,483 JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:20,141,522...20,188,700
Ensembl chrNW_004955427:20,137,861...20,188,700
JBrowse link
G Hmces 5-hydroxymethylcytosine binding, ES cell specific ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:13,616,647...13,638,657
Ensembl chrNW_004955429:13,616,647...13,661,389
JBrowse link
G Hspbap1 HSPB1 associated protein 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:21,931,101...22,004,811
Ensembl chrNW_004955427:21,931,502...22,004,807
JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:17,795,757...17,858,609
Ensembl chrNW_004955429:17,794,879...17,858,609
JBrowse link
G Il20rb interleukin 20 receptor subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:1,826,687...1,863,261 JBrowse link
G Ildr1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:21,304,460...21,333,170
Ensembl chrNW_004955427:21,304,890...21,322,261
JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:21,120,012...21,171,838
Ensembl chrNW_004955427:21,118,703...21,171,683
JBrowse link
G Isy1 ISY1 splicing factor homolog ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:13,513,191...13,527,516
Ensembl chrNW_004955429:13,511,914...13,527,516
JBrowse link
G Itgb5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955427:23,851,475...23,952,211
Ensembl chrNW_004955427:23,850,261...23,939,950
JBrowse link
G Kalrn kalirin RhoGEF kinase ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955427:23,184,751...23,823,128
Ensembl chrNW_004955427:23,184,739...23,816,811
JBrowse link
G Kbtbd12 kelch repeat and BTB domain containing 12 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:15,698,544...15,760,071
Ensembl chrNW_004955429:15,698,881...15,760,645
JBrowse link
G Klf15 KLF transcription factor 15 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955421:21,609,709...21,618,920
Ensembl chrNW_004955421:21,609,643...21,620,255
JBrowse link
G Kpna1 karyopherin subunit alpha 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:21,705,407...21,764,913
Ensembl chrNW_004955427:21,705,412...21,764,913
JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:3,961,603...4,005,095
Ensembl chrNW_004955501:3,961,198...4,005,191
JBrowse link
G LOC102012785 histone H1x ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:13,671,907...13,673,689
Ensembl chrNW_004955429:13,672,008...13,672,613
JBrowse link
G LOC102020573 chromosome unknown open reading frame, human C3orf22 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955421:21,945,527...21,949,229 JBrowse link
G LOC102023622 histone H1oo ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:17,778,193...17,783,307 JBrowse link
G LOC102027549 serotransferrin ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:4,801,710...4,832,025
Ensembl chrNW_004955501:4,801,885...4,831,910
JBrowse link
G Mbd4 methyl-CpG binding domain 4, DNA glycosylase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:17,858,656...17,868,111
Ensembl chrNW_004955429:17,858,937...17,869,262
JBrowse link
G Mcm2 minichromosome maintenance complex component 2 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:16,012,345...16,027,151
Ensembl chrNW_004955429:16,012,173...16,027,277
JBrowse link
G Mgll monoglyceride lipase ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:15,760,159...15,960,774
Ensembl chrNW_004955429:15,759,540...15,960,835
JBrowse link
G Mix23 mitochondrial matrix import factor 23 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:21,639,392...21,667,642
Ensembl chrNW_004955427:21,639,392...21,667,696
JBrowse link
G Mrpl3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:6,961,845...7,002,181
Ensembl chrNW_004955501:6,961,791...7,005,973
JBrowse link
G Msl2 MSL complex subunit 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:2,601,424...2,645,341
Ensembl chrNW_004955501:2,601,424...2,645,341
JBrowse link
G Muc13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955427:23,979,080...24,001,627 JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955427:22,760,432...23,008,432
Ensembl chrNW_004955427:22,762,221...22,970,508
JBrowse link
G Nck1 NCK adaptor protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:1,867,956...1,963,091 JBrowse link
G Ndufb4 NADH:ubiquinone oxidoreductase subunit B4 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:20,117,550...20,124,114
Ensembl chrNW_004955427:20,117,426...20,124,292
JBrowse link
G Nek11 NIMA related kinase 11 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:7,107,858...7,375,079
Ensembl chrNW_004955501:7,108,526...7,374,984
JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:5,799,879...5,837,022
Ensembl chrNW_004955501:5,799,879...5,837,022
JBrowse link
G Nudt16 nudix hydrolase 16 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:7,083,068...7,085,505 JBrowse link
G Osbpl11 oxysterol binding protein like 11 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955420:24,215,433...24,279,033
Ensembl chrNW_004955420:24,215,737...24,279,033
JBrowse link
G Parp14 poly(ADP-ribose) polymerase family member 14 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:21,878,980...21,929,097
Ensembl chrNW_004955427:21,879,740...21,927,883
JBrowse link
G Parp9 poly(ADP-ribose) polymerase family member 9 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:21,770,158...21,806,091
Ensembl chrNW_004955427:21,770,577...21,804,717
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837
JBrowse link
G Pdia5 protein disulfide isomerase family A member 5 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:22,268,730...22,356,123
Ensembl chrNW_004955427:22,268,511...22,356,181
JBrowse link
G Pik3r4 phosphoinositide-3-kinase regulatory subunit 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chrNW_004955501:7,604,934...7,681,947
Ensembl chrNW_004955501:7,604,501...7,681,947
JBrowse link
G Plxna1 plexin A1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:16,482,821...16,522,978
Ensembl chrNW_004955429:16,482,725...16,522,973
JBrowse link
G Plxnd1 plexin D1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:17,746,814...17,775,072
Ensembl chrNW_004955429:17,746,814...17,776,246
JBrowse link
G Podxl2 podocalyxin like 2 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:15,968,877...15,995,617
Ensembl chrNW_004955429:15,968,877...15,995,617
JBrowse link
G Polq DNA polymerase theta ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:20,779,332...20,895,094
Ensembl chrNW_004955427:20,778,952...20,894,989
JBrowse link
G Ppp2r3a protein phosphatase 2 regulatory subunit B''alpha ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:2,648,017...2,751,999
Ensembl chrNW_004955501:2,648,017...2,752,057
JBrowse link
G Rab43 RAB43, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:13,474,460...13,506,979
Ensembl chrNW_004955429:13,474,460...13,506,979
JBrowse link
G Rab6b RAB6B, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:4,751,647...4,781,094
Ensembl chrNW_004955501:4,732,616...4,781,094
JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chrNW_004955429:15,103,792...15,167,498 JBrowse link
G Rabl3 RAB, member of RAS oncogene family like 3 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:20,204,901...20,242,242
Ensembl chrNW_004955427:20,204,901...20,242,242
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:17,787,337...17,791,982
Ensembl chrNW_004955429:17,787,337...17,791,982
JBrowse link
G Ropn1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955427:23,104,178...23,140,559 JBrowse link
G Rpn1 ribophorin I ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chrNW_004955429:15,204,848...15,231,547
Ensembl chrNW_004955429:15,204,453...15,232,476
JBrowse link
G Ruvbl1 RuvB like AAA ATPase 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More... NCBI chrNW_004955429:15,598,465...15,632,290
Ensembl chrNW_004955429:15,598,465...15,633,713
JBrowse link
G Ryk receptor like tyrosine kinase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:4,360,051...4,419,083
Ensembl chrNW_004955501:4,328,682...4,419,307
JBrowse link
G Sec22a SEC22 homolog A, vesicle trafficking protein ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:22,389,552...22,456,149
Ensembl chrNW_004955427:22,388,827...22,456,149
JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More... NCBI chrNW_004955429:15,637,461...15,652,556
Ensembl chrNW_004955429:15,637,325...15,652,556
JBrowse link
G Sema5b semaphorin 5B ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:22,109,946...22,219,497
Ensembl chrNW_004955427:22,109,607...22,180,602
JBrowse link
G Slc12a8 solute carrier family 12 member 8 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955427:24,137,420...24,284,485
Ensembl chrNW_004955427:24,137,228...24,284,070
JBrowse link
G Slc15a2 solute carrier family 15 member 2 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:21,221,778...21,255,725
Ensembl chrNW_004955427:21,221,750...21,255,725
JBrowse link
G Slc35g2 solute carrier family 35 member G2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:1,974,126...1,998,547
Ensembl chrNW_004955501:1,974,126...1,998,537
JBrowse link
G Slc41a3 solute carrier family 41 member 3 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955421:21,349,484...21,407,171
Ensembl chrNW_004955421:21,349,484...21,407,171
JBrowse link
G Slc49a4 solute carrier family 49 member 4 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:22,005,161...22,093,700
Ensembl chrNW_004955427:22,005,161...22,080,336
JBrowse link
G Slco2a1 solute carrier organic anion transporter family member 2A1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:4,544,065...4,623,615
Ensembl chrNW_004955501:4,543,194...4,625,715
JBrowse link
G Snx4 sorting nexin 4 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955427:24,520,125...24,579,589
Ensembl chrNW_004955427:24,520,125...24,579,589
JBrowse link
G Srprb SRP receptor subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:4,784,266...4,796,587
Ensembl chrNW_004955501:4,784,266...4,796,587
JBrowse link
G Stag1 STAG1 cohesin complex component ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:2,070,614...2,465,339
Ensembl chrNW_004955501:2,173,695...2,465,331
JBrowse link
G Stxbp5l syntaxin binding protein 5L ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:20,390,060...20,760,043
Ensembl chrNW_004955427:20,390,060...20,760,043
JBrowse link
G Tmcc1 transmembrane and coiled-coil domain family 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:17,589,221...17,726,639
Ensembl chrNW_004955429:17,545,534...17,726,977
JBrowse link
G Tmem108 transmembrane protein 108 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:5,148,821...5,475,073
Ensembl chrNW_004955501:5,147,375...5,468,417
JBrowse link
G Topbp1 DNA topoisomerase II binding protein 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:4,907,687...4,974,995
Ensembl chrNW_004955501:4,908,137...4,976,453
JBrowse link
G Tpra1 transmembrane protein adipocyte associated 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:16,032,247...16,041,793
Ensembl chrNW_004955429:16,032,409...16,042,177
JBrowse link
G Trh thyrotropin releasing hormone ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chrNW_004955429:17,487,275...17,489,385 JBrowse link
G Txnrd3 thioredoxin reductase 3 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955429:16,845,466...16,880,481
Ensembl chrNW_004955429:16,845,526...16,879,797
JBrowse link
G Uba5 ubiquitin like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chrNW_004955501:5,841,516...5,864,304
Ensembl chrNW_004955501:5,841,606...5,870,953
JBrowse link
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152
JBrowse link
G Uroc1 urocanate hydratase 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955421:21,734,910...21,765,754
Ensembl chrNW_004955421:21,732,262...21,765,772
JBrowse link
G Wdr5b WD repeat domain 5B ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chrNW_004955427:21,698,766...21,700,390
Ensembl chrNW_004955427:21,698,917...21,699,888
JBrowse link
G Znf148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955427:24,294,926...24,430,697
Ensembl chrNW_004955427:24,294,926...24,377,217
JBrowse link
G Zxdc ZXD family zinc finger C ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chrNW_004955421:21,686,119...21,724,948
Ensembl chrNW_004955421:21,687,614...21,724,657
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14278
    syndrome 9654
      myelodysplastic syndrome 228
        Primary Lymphedema with Myelodysplasia 120
Path 2
Term Annotations click to browse term
  disease 14278
    disease of anatomical entity 13984
      Hemic and Lymphatic Diseases 3569
        hematopoietic system disease 3119
          bone marrow disease 747
            Bone Marrow Neoplasms 445
              bone marrow cancer 445
                myelodysplastic syndrome 228
                  Primary Lymphedema with Myelodysplasia 120
paths to the root