Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:9008754 term browser browse the term
Synonyms:exact_synonym: Emberger syndrome
 primary_id: MIM:614038



show annotations for term's descendants           Sort by:
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 chr 6:88,812,896...88,819,334
Ensembl chr 6:88,812,896...88,818,966
JBrowse link
G Acad11 acyl-Coenzyme A dehydrogenase family, member 11 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:103,940,923...104,004,855
Ensembl chr 9:103,940,576...104,004,924
JBrowse link
G Acad9 acyl-Coenzyme A 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 chr 3:36,120,128...36,147,006
Ensembl chr 3:36,120,128...36,147,002
JBrowse link
G Ackr4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:103,974,881...104,003,842
Ensembl chr 9:103,961,356...104,004,132
JBrowse link
G Acp3 acid phosphatase 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:104,165,439...104,214,921
Ensembl chr 9:104,165,450...104,214,947
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 chr16:34,974,933...35,126,108
Ensembl chr16:34,975,247...35,126,108
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 chr 6:90,527,751...90,576,153
Ensembl chr 6:90,463,409...90,577,185
JBrowse link
G Amotl2 angiomotin-like 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:102,594,290...102,610,616
Ensembl chr 9:102,593,871...102,610,617
JBrowse link
G Anapc13 anaphase promoting complex subunit 13 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:102,503,495...102,511,443
Ensembl chr 9:102,503,495...102,511,624
JBrowse link
G Aste1 asteroid homolog 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:105,272,533...105,285,497
Ensembl chr 9:105,272,591...105,289,428
JBrowse link
G Atp2c1 ATPase, Ca++-sequestering ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr 9:105,288,561...105,398,456
Ensembl chr 9:105,280,738...105,404,518
JBrowse link
G BC048671 cDNA sequence BC048671 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 chr 6:90,278,201...90,282,430
Ensembl chr 6:90,278,201...90,282,431
JBrowse link
G Bfsp2 beaded filament structural protein 2, phakinin ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:103,302,123...103,357,608
Ensembl chr 9:103,302,123...103,357,619
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 chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503
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 chr16:34,510,940...34,545,574
Ensembl chr16:34,510,986...34,545,572
JBrowse link
G Cd86 CD86 antigen ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
JBrowse link
G Cdv3 carnitine deficiency-associated gene expressed in ventricle 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:103,230,301...103,243,034
Ensembl chr 9:103,230,293...103,243,039
JBrowse link
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:102,461,784...102,503,748
Ensembl chr 9:102,461,787...102,503,733
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 chr 6:90,380,713...90,412,379
Ensembl chr 6:90,380,461...90,405,779
JBrowse link
G Cfap92 cilia and flagella associated protein 92 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 6:87,652,572...87,709,717
Ensembl chr 6:87,652,572...87,699,783
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 chr 6:89,360,128...89,572,634
Ensembl chr 6:89,360,128...89,572,634
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 chr 6:90,285,333...90,302,167
Ensembl chr 6:90,285,331...90,302,167
JBrowse link
G Cnbp cellular nucleic acid binding protein ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 6:87,819,597...87,828,088
Ensembl chr 6:87,819,597...87,828,088
JBrowse link
G Col6a5 collagen, type VI, alpha 5 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr 9:105,733,269...105,839,743
Ensembl chr 9:105,733,277...105,837,842
JBrowse link
G Col6a6 collagen, type VI, alpha 6 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr 9:105,566,616...105,705,413
Ensembl chr 9:105,565,008...105,705,359
JBrowse link
G Copg1 coatomer protein complex, subunit gamma 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 6:87,864,801...87,890,577
Ensembl chr 6:87,864,796...87,890,577
JBrowse link
G Cpne4 copine IV ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:104,443,900...104,911,747
Ensembl chr 9:104,424,485...104,911,743
JBrowse link
G Csta2 cystatin A family member 2 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr16:36,041,932...36,077,813
Ensembl chr16:36,041,838...36,077,810
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 chr 6:88,199,250...88,200,238
Ensembl chr 6:88,199,250...88,231,397
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 chr 9:104,028,796...104,140,807
Ensembl chr 9:104,028,481...104,140,129
JBrowse link
G Dtx3l deltex 3-like, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr16:35,746,885...35,759,397
Ensembl chr16:35,746,881...35,759,521
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 chr16:36,613,246...36,695,275
Ensembl chr16:36,613,246...36,695,365
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 chr 6:88,234,318...88,423,489
Ensembl chr 6:88,234,316...88,423,521
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 chr 6:115,787,695...115,815,177
Ensembl chr 6:115,787,857...115,815,373
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 chr 6:87,707,577...87,739,410
Ensembl chr 6:87,707,851...87,732,890
JBrowse link
G Ephb1 Eph receptor B1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:101,799,327...102,231,892
Ensembl chr 9:101,799,327...102,231,892
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 chr16:35,864,214...35,891,931
Ensembl chr16:35,864,131...35,891,964
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 chr16:36,783,823...36,811,321
Ensembl chr16:36,783,822...36,810,829
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 chr16:37,597,417...37,656,878
Ensembl chr16:37,597,235...37,656,876
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 chr 6:88,170,873...88,184,014
Ensembl chr 6:88,170,873...88,184,014
JBrowse link
G Golgb1 golgin B1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr16:36,695,455...36,753,447
Ensembl chr16:36,695,502...36,753,447
JBrowse link
G Gp9 glycoprotein 9 platelet ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 6:87,753,115...87,756,768
Ensembl chr 6:87,755,054...87,756,750
JBrowse link
G Gtf2e1 general transcription factor II E, polypeptide 1 (alpha subunit) ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr16:37,330,158...37,360,151
Ensembl chr16:37,330,152...37,360,151
JBrowse link
G H1f10 H1.10 linker histone ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 6:87,957,403...87,958,464
Ensembl chr 6:87,957,403...87,958,619
JBrowse link
G H1f8 H1.8 linker histone ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 6:115,921,892...115,927,203
Ensembl chr 6:115,921,899...115,927,197
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 chr16:34,842,791...34,929,560
Ensembl chr16:34,842,798...34,929,547
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 chr16:36,755,345...36,783,576
Ensembl chr16:36,755,345...36,783,574
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 chr16:33,504,754...33,591,946
Ensembl chr16:33,504,740...33,591,946
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 chr16:37,400,104...37,452,388
Ensembl chr16:37,400,515...37,452,382
JBrowse link
G Hmces 5-hydroxymethylcytosine (hmC) binding, ES cell specific ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 6:87,890,889...87,913,603
Ensembl chr 6:87,890,917...87,913,611
JBrowse link
G Hspbap1 Hspb associated protein 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr16:35,590,009...35,648,832
Ensembl chr16:35,590,745...35,648,847
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 chr 6:115,830,340...115,903,660
Ensembl chr 6:115,830,431...115,903,660
JBrowse link
G Il20rb interleukin 20 receptor beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:100,339,772...100,368,526
Ensembl chr 9:100,339,772...100,368,841
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 chr16:36,514,340...36,547,166
Ensembl chr16:36,514,340...36,547,166
JBrowse link
G Iqcb1 IQ calmodulin-binding motif containing 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr16:36,648,722...36,694,044
Ensembl chr16:36,648,747...36,693,083
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 chr 6:87,795,429...87,815,723
Ensembl chr 6:87,791,251...87,815,780
JBrowse link
G Itgb5 integrin 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 chr16:33,650,021...33,769,708
Ensembl chr16:33,650,035...33,769,708
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 chr16:33,789,443...34,393,647
Ensembl chr16:33,789,443...34,393,902
JBrowse link
G Kbtbd12 kelch repeat and BTB (POZ) 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 chr 6:88,521,931...88,604,636
Ensembl chr 6:88,522,096...88,614,932
JBrowse link
G Klf15 Kruppel-like 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 chr 6:90,437,785...90,468,785
Ensembl chr 6:90,439,558...90,452,220
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 chr16:35,803,693...35,859,479
Ensembl chr16:35,799,120...35,857,501
JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:102,382,954...102,423,443
Ensembl chr 9:102,382,949...102,423,438
JBrowse link
G Mbd4 methyl-CpG binding domain protein 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 6:115,817,658...115,830,361
Ensembl chr 6:115,817,658...115,830,332
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 chr 6:88,860,456...88,875,762
Ensembl chr 6:88,860,456...88,875,762
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 chr 6:88,701,397...88,805,342
Ensembl chr 6:88,701,394...88,805,342
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 chr16:35,892,030...35,912,488
Ensembl chr16:35,892,055...35,912,490
JBrowse link
G Mrpl3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:104,930,394...104,954,665
Ensembl chr 9:104,930,438...104,957,087
JBrowse link
G Msl2 MSL complex subunit 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:100,956,107...100,981,999
Ensembl chr 9:100,956,154...100,981,999
JBrowse link
G Muc13 mucin 13, epithelial transmembrane 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 chr16:33,614,407...33,640,299
Ensembl chr16:33,614,407...33,640,304
JBrowse link
G Mylk myosin, light polypeptide 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 chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790
JBrowse link
G Nck1 non-catalytic region of tyrosine kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:100,376,047...100,428,187
Ensembl chr 9:100,374,346...100,428,187
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 chr16:37,467,962...37,474,779
Ensembl chr16:37,467,532...37,474,815
JBrowse link
G Nek11 NIMA (never in mitosis gene a)-related expressed kinase 11 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:105,039,355...105,272,723
Ensembl chr 9:105,039,355...105,272,723
JBrowse link
G Nphp3 nephronophthisis 3 (adolescent) ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017
JBrowse link
G Nudt16 nudix hydrolase 16 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:105,006,531...105,010,332
Ensembl chr 9:105,006,102...105,009,023
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 chr16:33,005,441...33,063,682
Ensembl chr16:33,005,441...33,063,682
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 chr16:35,652,262...35,691,904
Ensembl chr16:35,653,244...35,691,914
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 chr16:35,759,360...35,792,975
Ensembl chr16:35,758,840...35,792,975
JBrowse link
G Pccb propionyl Coenzyme A carboxylase, beta polypeptide ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:100,864,085...100,916,993
Ensembl chr 9:100,864,085...100,916,951
JBrowse link
G Pdia5 protein disulfide isomerase associated 5 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr16:35,217,678...35,311,289
Ensembl chr16:35,217,682...35,311,243
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 chr 9:105,520,156...105,564,854
Ensembl chr 9:105,520,177...105,564,856
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 chr 6:89,293,295...89,339,595
Ensembl chr 6:89,293,296...89,339,602
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 chr 6:115,931,772...115,972,300
Ensembl chr 6:115,931,772...115,971,966
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 chr 6:88,819,539...88,852,063
Ensembl chr 6:88,819,540...88,852,026
JBrowse link
G Polq polymerase (DNA directed), theta ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr16:36,832,104...36,922,321
Ensembl chr16:36,832,148...36,915,779
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 chr 9:100,982,188...101,129,031
Ensembl chr 9:100,982,283...101,128,994
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 chr 6:87,765,835...87,789,146
Ensembl chr 6:87,765,835...87,789,146
JBrowse link
G Rab6b RAB6B, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:102,988,866...103,062,475
Ensembl chr 9:102,988,986...103,062,475
JBrowse link
G Rab7 RAB7, 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 chr 6:87,976,088...88,022,252
Ensembl chr 6:87,976,088...88,022,252
JBrowse link
G Rabl3 RAB, member RAS oncogene family-like 3 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr16:37,360,220...37,392,747
Ensembl chr16:37,360,247...37,392,747
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 chr 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997
JBrowse link
G Ropn1 ropporin, rhophilin associated 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 chr16:34,470,271...34,498,980
Ensembl chr16:34,470,291...34,498,988
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 chr 6:88,061,455...88,082,286
Ensembl chr 6:88,061,464...88,082,286
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 chr 6:88,442,391...88,474,548
Ensembl chr 6:88,442,391...88,474,554
JBrowse link
G Ryk receptor-like tyrosine kinase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:102,712,119...102,785,506
Ensembl chr 9:102,712,116...102,785,504
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 chr16:35,131,505...35,184,222
Ensembl chr16:35,131,501...35,184,288
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 chr 6:88,480,589...88,495,782
Ensembl chr 6:88,480,561...88,495,887
JBrowse link
G Sema5b sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr16:35,361,517...35,485,103
Ensembl chr16:35,361,515...35,485,102
JBrowse link
G Slc12a8 solute carrier family 12 (potassium/chloride transporters), 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 chr16:33,337,440...33,484,508
Ensembl chr16:33,337,698...33,484,505
JBrowse link
G Slc15a2 solute carrier family 15 (H+/peptide transporter), member 2 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr16:36,570,523...36,605,506
Ensembl chr16:36,570,539...36,605,324
JBrowse link
G Slc35g2 solute carrier family 35, member G2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:100,431,178...100,453,138
Ensembl chr 9:100,434,241...100,453,143
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 chr 6:90,579,043...90,623,394
Ensembl chr 6:90,581,707...90,623,394
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 chr16:35,514,432...35,589,740
Ensembl chr16:35,514,432...35,589,726
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 chr 9:102,885,686...102,973,201
Ensembl chr 9:102,865,911...102,973,201
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 chr16:33,071,826...33,119,932
Ensembl chr16:33,071,812...33,120,639
JBrowse link
G Speer4f2 spermatogenesis associated glutamate (E)-rich protein 4f2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 5:17,578,184...17,582,990
Ensembl chr 5:17,578,178...17,583,026
JBrowse link
G Srprb signal recognition particle receptor, B subunit ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:103,065,232...103,079,264
Ensembl chr 9:103,065,231...103,079,336
JBrowse link
G Stag1 STAG1 cohesin complex component ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:100,479,762...100,840,597
Ensembl chr 9:100,479,851...100,841,428
JBrowse link
G Stxbp5l syntaxin binding protein 5-like ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr16:36,927,437...37,205,377
Ensembl chr16:36,935,304...37,205,324
JBrowse link
G Tmcc1 transmembrane and coiled coil domains 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 6:115,995,572...116,170,485
Ensembl chr 6:115,995,572...116,170,447
JBrowse link
G Tmem108 transmembrane protein 108 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:103,360,135...103,639,099
Ensembl chr 9:103,360,146...103,639,036
JBrowse link
G Topbp1 topoisomerase (DNA) II binding protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:103,182,351...103,227,627
Ensembl chr 9:103,182,414...103,227,627
JBrowse link
G Tpra1 transmembrane protein, adipocyte asscociated 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 chr 6:88,879,238...88,889,216
Ensembl chr 6:88,879,233...88,889,220
JBrowse link
G Trf transferrin ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
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 chr 6:92,219,042...92,221,631
Ensembl chr 6:92,219,042...92,221,631
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 chr 6:89,620,970...89,652,511
Ensembl chr 6:89,620,970...89,652,511
JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 9:103,923,786...103,940,767
Ensembl chr 9:103,923,798...103,940,333
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 chr16:33,775,152...33,787,408
Ensembl chr16:33,775,152...33,787,408
JBrowse link
G Uroc1 urocanase 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 NCBI chr 6:90,310,221...90,341,533
Ensembl chr 6:90,310,266...90,341,533
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 chr16:35,861,560...35,863,344
Ensembl chr16:35,861,560...35,864,298
JBrowse link
G Zfp148 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 chr16:33,201,145...33,324,273
Ensembl chr16:33,201,206...33,324,733
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 chr 6:90,346,460...90,380,472
Ensembl chr 6:90,346,474...90,380,472
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16184
    syndrome 10676
      myelodysplastic syndrome 244
        Primary Lymphedema with Myelodysplasia 122
Path 2
Term Annotations click to browse term
  disease 16184
    disease of anatomical entity 15800
      Hemic and Lymphatic Diseases 3974
        hematopoietic system disease 3467
          bone marrow disease 826
            Bone Marrow Neoplasms 497
              bone marrow cancer 497
                myelodysplastic syndrome 244
                  Primary Lymphedema with Myelodysplasia 122
paths to the root