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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 chr22:53,362,464...53,370,526
Ensembl chr22:53,362,918...53,370,462
JBrowse link
G ACAD11 acyl-CoA dehydrogenase family member 11 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:57,632,139...57,706,468
Ensembl chr15:57,626,742...57,707,504
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 chr22:52,143,869...52,166,123
Ensembl chr22:52,144,454...52,169,365
JBrowse link
G ACKR4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:57,664,659...57,670,334
Ensembl chr15:57,665,407...57,666,459
JBrowse link
G ACP3 acid phosphatase 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:57,887,528...57,934,851
Ensembl chr15:57,887,365...57,934,707
JBrowse link
G ADCY5 adenylate cyclase 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 chr22:57,427,711...57,589,440 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 chr22:54,848,868...54,933,415
Ensembl chr22:54,848,901...54,934,629
JBrowse link
G AMOTL2 angiomotin like 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,002,474...56,021,838
Ensembl chr15:56,003,236...56,022,123
JBrowse link
G ANAPC13 anaphase promoting complex subunit 13 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:55,892,385...55,901,168
Ensembl chr15:55,895,970...55,900,256
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 chr22:59,301,808...59,304,209 JBrowse link
G ASTE1 asteroid homolog 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:59,178,704...59,186,556 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 chr15:59,189,075...59,348,684
Ensembl chr15:59,188,225...59,311,709
JBrowse link
G BFSP2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,854,537...56,920,987
Ensembl chr15:56,855,060...56,918,760
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 chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756
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 chr22:56,889,424...56,939,915 JBrowse link
G CD86 CD86 molecule ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366
JBrowse link
G CDV3 CDV3 homolog ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,748,457...56,752,135
Ensembl chr15:56,758,078...56,771,132
JBrowse link
G CEP63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:55,821,117...55,892,951
Ensembl chr15:55,821,487...55,892,398
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 chr22:54,581,573...54,622,842
Ensembl chr22:54,581,104...54,622,970
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 chr22:52,066,203...52,146,937
Ensembl chr22:52,075,051...52,148,337
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 chr22:54,019,128...54,276,242
Ensembl chr22:54,025,361...54,276,197
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 chr22:54,471,165...54,491,436
Ensembl chr22:54,471,879...54,490,342
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 chr22:51,877,171...51,891,912
Ensembl chr22:51,876,545...51,890,946
JBrowse link
G COL6A5 collagen type VI alpha 5 chain ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr15:59,713,906...59,826,244
Ensembl chr15:59,709,540...59,802,956
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 chr15:59,517,463...59,671,767
Ensembl chr15:59,519,231...59,670,639
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 chr22:51,787,002...51,812,031
Ensembl chr22:51,787,340...51,812,026
JBrowse link
G CPNE4 copine 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:58,199,223...58,703,663 JBrowse link
G CSTA cystatin A ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:58,519,085...58,536,163
Ensembl chr22:58,519,085...58,536,339
JBrowse link
G CUNH3orf22 chromosome unknown C3orf22 homolog 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 chr22:54,455,637...54,465,446
Ensembl chr22:54,461,735...54,465,250
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 chr22:52,579,012...52,580,072
Ensembl chr22:52,579,259...52,579,957
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 chr15:57,727,636...57,846,469
Ensembl chr15:57,726,576...57,846,478
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 chr22:58,287,331...58,298,519
Ensembl chr22:58,290,764...58,298,376
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 chr22:58,966,640...59,025,158
Ensembl chr22:58,974,409...59,025,143
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 chr22:52,633,932...52,887,812
Ensembl chr22:52,633,274...52,887,838
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 chr22:51,628,680...51,656,867
Ensembl chr22:51,629,304...51,656,596
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 chr22:52,023,814...52,066,719
Ensembl chr22:52,023,262...52,066,700
JBrowse link
G EPHB1 EPH receptor B1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:55,144,178...55,592,252
Ensembl chr15:55,143,630...55,589,862
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 chr22:58,451,115...58,476,960
Ensembl chr22:58,449,189...58,476,959
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 chr22:59,259,107...59,295,391
Ensembl chr22:59,256,354...59,295,017
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 chr22:60,371,309...60,427,259
Ensembl chr22:60,371,554...60,428,764
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 chr22:52,549,112...52,562,911
Ensembl chr22:52,555,738...52,562,909
JBrowse link
G GOLGB1 golgin B1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:59,124,023...59,223,181
Ensembl chr22:59,143,188...59,223,656
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 chr22:52,000,620...52,013,570
Ensembl chr22:52,000,758...52,001,291
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 chr22:60,057,393...60,094,926
Ensembl chr22:60,056,720...60,094,835
JBrowse link
G H1FOO H1 histone family member O, oocyte specific ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:51,497,111...51,506,007 JBrowse link
G H1FX H1 histone family member X ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:51,749,560...51,751,081
Ensembl chr22:51,749,948...51,750,586
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 chr22:57,285,948...57,379,894
Ensembl chr22:57,322,657...57,381,683
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 chr22:59,225,768...59,255,744
Ensembl chr22:59,225,750...59,256,243
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 chr22:55,782,039...55,874,679
Ensembl chr22:55,809,901...55,871,402
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 chr22:60,136,293...60,192,275
Ensembl chr22:60,137,532...60,192,430
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 chr22:51,759,776...51,785,902
Ensembl chr22:51,759,715...51,785,987
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 chr22:58,081,374...58,131,789
Ensembl chr22:58,081,832...58,132,236
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 chr22:51,528,383...51,616,757
Ensembl chr22:51,528,254...51,616,682
JBrowse link
G IL20RB interleukin 20 receptor subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:53,446,410...53,493,827
Ensembl chr15:53,448,034...53,493,618
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 chr22:58,833,754...58,870,547
Ensembl chr22:58,834,293...58,870,303
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 chr22:59,025,265...59,097,930
Ensembl chr22:59,025,261...59,098,138
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 chr22:51,905,564...51,940,705
Ensembl chr22:51,907,290...51,938,847
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 chr22:55,944,810...56,070,605
Ensembl chr22:55,944,865...56,069,930
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 chr22:56,106,677...56,820,004
Ensembl chr22:56,151,819...56,754,538
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 chr22:53,058,678...53,128,987
Ensembl chr22:53,062,102...53,128,978
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 chr22:54,659,406...54,674,321
Ensembl chr22:54,659,703...54,674,368
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 chr22:58,346,008...58,437,737
Ensembl chr22:58,346,009...58,439,143
JBrowse link
G KY kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:55,730,153...55,780,641
Ensembl chr15:55,730,770...55,780,791
JBrowse link
G LOC103228133 ropporin-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 chr22:55,052,992...55,065,866 JBrowse link
G LOC103228163 ropporin-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 chr22:56,858,260...56,882,208 JBrowse link
G LOC103241648 chromosome 15 C3orf36 homolog ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,433,105...56,435,304 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 chr22:51,616,840...51,626,232
Ensembl chr22:51,616,803...51,626,224
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 chr22:53,419,958...53,452,720
Ensembl chr22:53,420,417...53,444,095
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 chr22:53,092,970...53,354,316
Ensembl chr22:53,218,672...53,354,448
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 chr22:58,477,053...58,501,342
Ensembl chr22:58,489,161...58,502,366
JBrowse link
G MRPL3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:58,732,262...58,772,638
Ensembl chr15:58,732,268...58,772,538
JBrowse link
G MSL2 MSL complex subunit 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:54,246,090...54,290,809
Ensembl chr15:54,246,127...54,288,555
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 chr22:55,898,876...55,930,379
Ensembl chr22:55,899,901...55,930,454
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 chr22:57,032,264...57,259,253
Ensembl chr22:57,065,331...57,257,464
JBrowse link
G NCK1 NCK adaptor protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:53,501,152...53,595,500
Ensembl chr15:53,500,623...53,523,576
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 chr22:60,219,834...60,226,180 JBrowse link
G NEK11 NIMA related kinase 11 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:58,884,879...59,178,575
Ensembl chr15:58,884,771...59,175,470
JBrowse link
G NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:57,550,878...57,629,106
Ensembl chr15:57,551,189...57,592,661
JBrowse link
G NUDT16 nudix hydrolase 16 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:58,847,418...58,849,133
Ensembl chr15:58,847,560...58,849,246
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 chr22:55,228,864...55,302,285
Ensembl chr22:55,228,900...55,302,892
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 chr22:58,135,092...58,185,988
Ensembl chr22:58,134,973...58,185,521
JBrowse link
G PARP15 poly(ADP-ribose) polymerase family member 15 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:58,230,913...58,285,119
Ensembl chr22:58,231,542...58,264,046
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 chr22:58,297,526...58,336,243
Ensembl chr22:58,298,046...58,337,124
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:54,110,014...54,198,405
Ensembl chr15:54,108,389...54,198,329
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 chr22:57,711,049...57,806,058
Ensembl chr22:57,711,041...57,806,037
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 chr15:59,444,570...59,515,619
Ensembl chr15:59,444,616...59,515,240
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 chr22:53,949,566...54,005,626
Ensembl chr22:53,951,119...53,999,812
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 chr22:51,440,797...51,493,370
Ensembl chr22:51,441,127...51,495,118
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 chr22:53,370,668...53,405,832
Ensembl chr22:53,371,004...53,403,512
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 chr22:59,336,506...59,448,609
Ensembl chr22:59,336,842...59,448,604
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 chr15:54,291,843...54,480,733 JBrowse link
G PRR23E PRR23 family member E 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 chr22:53,820,882...53,823,658 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 chr22:51,945,938...51,983,412
Ensembl chr22:51,946,055...51,983,868
JBrowse link
G RAB6B RAB6B, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,472,615...56,541,083
Ensembl chr15:56,472,634...56,541,434
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 chr22:52,231,481...52,309,276
Ensembl chr22:52,230,835...52,309,306
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 chr22:60,095,013...60,133,189
Ensembl chr22:60,095,066...60,136,337
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 chr22:51,513,611...51,520,589
Ensembl chr22:51,515,081...51,519,974
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 chr22:52,391,793...52,417,341
Ensembl chr22:52,391,813...52,417,575
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 chr22:52,887,374...52,967,728
Ensembl chr22:52,924,819...52,967,830
JBrowse link
G RYK receptor like tyrosine kinase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,127,048...56,217,407
Ensembl chr15:56,127,130...56,216,407
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 chr22:57,597,146...57,666,370
Ensembl chr22:57,597,880...57,669,151
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 chr22:52,977,101...52,994,766
Ensembl chr22:52,976,872...52,992,039
JBrowse link
G SEMA5B semaphorin 5B ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:57,915,118...57,968,900
Ensembl chr22:57,915,344...57,967,793
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 chr22:55,623,961...55,754,969
Ensembl chr22:55,646,406...55,754,209
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 chr22:58,916,389...58,966,725
Ensembl chr22:58,913,676...58,966,906
JBrowse link
G SLC35G2 solute carrier family 35 member G2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:53,601,248...53,638,034
Ensembl chr15:53,601,657...53,602,895
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 chr22:54,950,899...55,030,060
Ensembl chr22:54,966,562...55,031,564
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 chr22:57,998,168...58,080,900
Ensembl chr22:57,998,708...58,081,270
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 chr15:56,339,585...56,427,196
Ensembl chr15:56,339,744...56,430,032
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 chr22:55,311,896...55,389,174
Ensembl chr22:55,311,933...55,389,349
JBrowse link
G SRPRB SRP receptor subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,545,201...56,580,591
Ensembl chr15:56,544,391...56,560,045
JBrowse link
G STAG1 STAG1 cohesin complex component ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:53,706,847...54,103,712
Ensembl chr15:53,706,974...54,101,707
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 chr22:59,460,278...59,938,228
Ensembl chr22:59,465,870...59,938,129
JBrowse link
G TF transferrin ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,586,311...56,618,304
Ensembl chr15:56,586,104...56,618,149
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 chr22:51,147,855...51,401,619
Ensembl chr22:51,375,793...51,401,626
JBrowse link
G TMEM108 transmembrane protein 108 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,921,064...57,248,199
Ensembl chr15:56,921,069...57,200,901
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 chr15:56,679,333...56,740,773
Ensembl chr15:56,679,426...56,741,566
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 chr22:53,447,383...53,467,709
Ensembl chr22:53,449,903...53,468,442
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 chr22:51,075,814...51,079,852
Ensembl chr22:51,076,157...51,078,236
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 chr22:54,359,169...54,417,126
Ensembl chr22:54,361,034...54,417,397
JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:57,596,490...57,613,103
Ensembl chr15:57,592,728...57,612,928
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 chr22:56,081,897...56,097,164
Ensembl chr22:56,082,103...56,097,105
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 chr22:54,497,373...54,536,295
Ensembl chr22:54,499,487...54,535,862
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 chr22:58,444,586...58,446,316
Ensembl chr22:58,445,149...58,446,141
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 chr22:55,467,453...55,609,050 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 chr22:54,542,004...54,580,646
Ensembl chr22:54,542,167...54,579,883
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15342
    syndrome 10276
      myelodysplastic syndrome 240
        Primary Lymphedema with Myelodysplasia 126
Path 2
Term Annotations click to browse term
  disease 15342
    disease of anatomical entity 15027
      Hemic and Lymphatic Diseases 3809
        hematopoietic system disease 3331
          bone marrow disease 783
            Bone Marrow Neoplasms 466
              bone marrow cancer 466
                myelodysplastic syndrome 240
                  Primary Lymphedema with Myelodysplasia 126
paths to the root