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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:lymphedema
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Accession:DOID:4977 term browser browse the term
Definition:Edema due to obstruction of lymph vessels or disorders of the lymph nodes.
Synonyms:exact_synonym: Early Onset Lymphedema;   Lymphedemas;   Nonne Milroy Disease;   Nonne Milroy Meige disease;   Nonne Milroy lymphedema;   early onset lymphedemas;   lymphatic edema;   lymphoedema;   primary lymphedema
 primary_id: MESH:D008209
 xref: NCI:C3207
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
lymphedema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle ISO mRNA:increased expression:adipose tissue: RGD PMID:21510802 RGD:12879442 NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080 		JBrowse link
G DCHS1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Lymphedema ClinVar PMID:25741868 PMID:28492532 NCBI chr11:6,753,383...6,787,896
Ensembl chr11:6,436,536...6,456,352 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Early onset lymphedema ClinVar PMID:16965327 PMID:25741868 NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006 		JBrowse link
G FOXC2 forkhead box C2 ISO lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA
lymphedema-distichiasis syndrome,OMIM:153400;DNA:insertion:1006insA		 RGD PMID:11371511 PMID:15523639 RGD:1601216 RGD:1601217 NCBI chr16:67,237,476...67,239,545 JBrowse link
G GATA2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21892158 NCBI chr 3:125,526,537...125,535,649
Ensembl chr 3:132,890,508...132,899,035 		JBrowse link
G GJC2 gap junction protein gamma 2 ISO DNA:missense mutations:cds:multiple (human)
DNA:missense mutations:cds:p.S48L, p.M210R (human)		 RGD PMID:20537300 PMID:21266381 RGD:13208589 RGD:13208590 NCBI chr 1:203,551,556...203,561,702 JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Lymphedema | ClinVar Annotator: match by term: Lymphoedema ClinVar PMID:18564920 PMID:24339735 PMID:24728327 PMID:25637381 PMID:25741868 More... NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159 		JBrowse link
G PGF placental growth factor ISO associated with Elephantiasis, Filarial;protein:increased expression:plasma RGD PMID:20889885 RGD:6483608 NCBI chr14:55,494,152...55,508,066
Ensembl chr14:74,338,976...74,352,964 		JBrowse link
Aagenaes syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UNC45A unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Cholestasis-edema syndrome, Norwegian type ClinVar PMID:25741868 PMID:28492532 NCBI chr15:69,623,199...69,647,468
Ensembl chr15:88,820,444...88,844,502 		JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7 OMIM
ClinVar		 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29444212 More... NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022 		JBrowse link
G MDFIC MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY ClinVar PMID:25741868 PMID:35235341 NCBI chr 7:106,886,481...106,983,546
Ensembl chr 7:119,584,817...119,678,614 		JBrowse link
G SLC12A9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:92,877,655...92,891,957
Ensembl chr 7:106,288,530...106,294,968
Ensembl chr 7:106,288,530...106,294,968 		JBrowse link
Choanal Atresia and Lymphedema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPN14 protein tyrosine phosphatase non-receptor type 14 ISO ClinVar Annotator: match by term: Choanal atresia and lymphedema OMIM
ClinVar		 PMID:20826270 PMID:25741868 NCBI chr 1:189,925,706...190,120,232
Ensembl chr 1:194,780,068...194,887,798 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia OMIM
ClinVar		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... NCBI chr  X:143,988,720...144,010,078
Ensembl chr  X:153,854,493...153,876,092 		JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCBE1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19911200 PMID:19935664 More... NCBI chr18:52,819,591...53,087,772
Ensembl chr18:56,149,036...56,412,222 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 ClinVar PMID:25741868 NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407 		JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2 OMIM
ClinVar		 PMID:2624276 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 More... NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407 		JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28985353 PMID:30450763 NCBI chr 4:51,648,293...51,941,329
Ensembl chr 4:57,966,197...58,259,404 		JBrowse link
Hennekam syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCBE1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: LYMPHATIC DYSPLASIA, GENERALIZED ClinVar PMID:19935664 PMID:25741868 PMID:25814692 PMID:28492532 PMID:28985353 More... NCBI chr18:52,819,591...53,087,772
Ensembl chr18:56,149,036...56,412,222 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407 		JBrowse link
hereditary lymphedema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Primary congenital lymphedema ClinVar PMID:16965327 PMID:25741868 NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006 		JBrowse link
G VEGFC vascular endothelial growth factor C ISO OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907 MouseDO NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030 		JBrowse link
hereditary lymphedema I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Hereditary lymphedema type I ClinVar PMID:25741868 PMID:28492532 PMID:28687708 PMID:30760892 NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Hereditary lymphedema type I ClinVar PMID:9817924 PMID:10835628 PMID:10856194 PMID:15904433 PMID:16924388 More... NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006 		JBrowse link
hereditary lymphedema IA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Hereditary lymphedema type I ClinVar PMID:25741868 PMID:28492532 PMID:28687708 PMID:30760892 NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Hereditary lymphedema type I OMIM
ClinVar		 PMID:9817924 PMID:10835628 PMID:10856194 PMID:15904433 PMID:16924388 More... NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Edema of the dorsum of feet ClinVar PMID:25741868 NCBI chr 6:119,213,513...119,227,617 JBrowse link
hereditary lymphedema IC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJC2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Lymphedema, hereditary, IC OMIM
ClinVar		 PMID:20537300 PMID:21266381 PMID:25741868 PMID:28492532 PMID:29451896 More... NCBI chr 1:203,551,556...203,561,702 JBrowse link
hereditary lymphedema ID term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VEGFC vascular endothelial growth factor C ISO ClinVar Annotator: match by term: Lymphedema, hereditary, ID OMIM
ClinVar		 PMID:23410910 PMID:24744435 PMID:25741868 PMID:30071673 NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030 		JBrowse link
hypotrichosis-lymphedema-telangiectasia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome OMIM
ClinVar		 PMID:11701398 PMID:12740761 PMID:24697860 PMID:26148450 PMID:28492532 More...
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome OMIM
ClinVar		 PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 More...
Lymphatic Malformation 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPT2 angiopoietin 2 ISO ClinVar Annotator: match by term: Lymphatic malformation 10 OMIM
ClinVar		 PMID:32908006 NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915 		JBrowse link
G MCPH1 microcephalin 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 10 ClinVar PMID:32908006 NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394 		JBrowse link
Lymphatic Malformation 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 11 OMIM
ClinVar		 PMID:32947856 NCBI chr 1:42,602,333...42,624,471
Ensembl chr 1:43,979,838...44,002,167 		JBrowse link
Lymphatic Malformation 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MDFIC MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: Lymphatic malformation 12 OMIM
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 7:106,886,481...106,983,546
Ensembl chr 7:119,584,817...119,678,614 		JBrowse link
Lymphatic Malformation 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 13 OMIM
ClinVar		 PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873 NCBI chr13:33,442,480...33,472,259
Ensembl chr13:52,301,206...52,330,504 		JBrowse link
Lymphatic Malformation 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERG ETS transcription factor ERG ISO ClinVar Annotator: match by term: Lymphatic malformation 14 OMIM
ClinVar		 PMID:36928819 NCBI chr21:24,737,829...25,016,378
Ensembl chr21:38,087,339...38,281,403 		JBrowse link
lymphatic malformation 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: Diffuse lymphatic malformation | ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 6 | ClinVar Annotator: match by term: Lymphatic malformation 6 | ClinVar Annotator: match by term: Lymphedema, hereditary, III | ClinVar Annotator: match by term: PIEZO1-related condition OMIM
ClinVar		 PMID:9536098 PMID:11001917 PMID:17576681 PMID:23479567 PMID:24033266 More... NCBI chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068 		JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALCRL calcitonin receptor like receptor ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar		 PMID:25741868 NCBI chr2B:74,622,892...74,728,067
Ensembl chr2B:192,422,283...192,463,064 		JBrowse link
Lymphatic Malformation 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: CELSR1-related condition | ClinVar Annotator: match by term: Lymphatic malformation 9 OMIM
ClinVar		 PMID:25741868 PMID:26855770 PMID:28492532 PMID:31215153 PMID:31403174 Ensembl chr22:45,428,159...45,604,453 JBrowse link
lymphedema-distichiasis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC2 forkhead box C2 ISO ClinVar Annotator: match by term: Distichiasis-lymphedema syndrome OMIM
ClinVar		 PMID:10417285 PMID:11078474 PMID:11371511 PMID:11499682 PMID:12114478 More... NCBI chr16:67,237,476...67,239,545 JBrowse link
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC2 forkhead box C2 ISO ClinVar Annotator: match by term: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus ClinVar PMID:15523639 NCBI chr16:67,237,476...67,239,545 JBrowse link
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF11 kinesin family member 11 ISO ClinVar Annotator: match by term: KIF11-related condition | ClinVar Annotator: match by term: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Microcephaly lymphedema chorioretinal dysplasia | ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation OMIM
ClinVar		 PMID:9536098 PMID:15930898 PMID:16199547 PMID:17576681 PMID:22284827 More... NCBI chr10:89,339,254...89,401,188
Ensembl chr10:92,852,786...92,914,440 		JBrowse link
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 3:124,717,600...124,725,589
Ensembl chr 3:132,024,193...132,032,242 		JBrowse link
G ACAD11 acyl-CoA dehydrogenase family member 11 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:129,631,105...129,732,894
Ensembl chr 3:137,107,834...137,209,550 		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 chr 3:125,941,278...125,974,847
Ensembl chr 3:133,298,753...133,331,883 		JBrowse link
G ACKR4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:129,670,181...129,675,026
Ensembl chr 3:137,150,087...137,151,139 		JBrowse link
G ACP3 acid phosphatase 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:129,392,396...129,465,962
Ensembl chr 3:136,713,816...136,764,655 		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 chr 3:120,380,094...120,545,725
Ensembl chr 3:127,283,921...127,446,508 		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 3:123,166,630...123,244,257
Ensembl chr 3:130,484,862...130,562,934 		JBrowse link
G ALG1L2 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr 3:127,173,756...127,178,840 JBrowse link
G AMOTL2 angiomotin like 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:131,402,375...131,421,030
Ensembl chr 3:138,874,309...138,892,913 		JBrowse link
G ANAPC13 anaphase promoting complex subunit 13 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:131,524,227...131,532,624
Ensembl chr 3:138,995,860...139,004,179 		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 chr 3:118,670,123...118,692,774
Ensembl chr 3:125,582,839...125,598,563 		JBrowse link
G ASTE1 asteroid homolog 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:128,098,219...128,111,196
Ensembl chr 3:135,421,044...135,432,284 		JBrowse link
G ATP2C1 ATPase secretory pathway Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr 3:127,937,272...128,101,060
Ensembl chr 3:135,260,796...135,423,700 		JBrowse link
G BFSP2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:130,470,362...130,543,610
Ensembl chr 3:137,946,969...138,016,584 		JBrowse link
G C2H3orf22 chromosome 2 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 chr 3:123,599,191...123,609,230
Ensembl chr 3:130,914,841...130,924,133 		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 chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268 		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 chr 3:121,018,879...121,066,563
Ensembl chr 3:127,918,294...127,965,906 		JBrowse link
G CD86 CD86 molecule ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339 		JBrowse link
G CDV3 CDV3 homolog ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:130,641,137...130,657,664 JBrowse link
G CEP63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:131,532,450...131,609,240
Ensembl chr 3:139,003,898...139,092,680 		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 3:123,444,962...123,486,188
Ensembl chr 3:130,761,923...130,801,851 		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 chr 3:125,971,881...126,061,778 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 3:123,747,049...124,003,254 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 3:123,569,493...123,592,816
Ensembl chr 3:130,889,157...130,907,762 		JBrowse link
G CNBP CCHC-type zinc finger 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 3:126,227,605...126,242,609
Ensembl chr 3:133,584,384...133,598,887 		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 chr 3:127,438,826...127,578,612
Ensembl chr 3:134,790,015...134,889,148 		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 chr 3:126,310,558...126,338,726
Ensembl chr 3:133,664,856...133,694,849 		JBrowse link
G CPNE4 copine 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:128,615,410...129,096,612
Ensembl chr 3:135,936,137...136,436,888 		JBrowse link
G CSTA cystatin A ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:119,417,489...119,432,244
Ensembl chr 3:126,323,901...126,338,430 		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 3:125,509,528...125,514,393
Ensembl chr 3:132,873,880...132,874,578 		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 3:129,492,658...129,612,040
Ensembl chr 3:136,970,007...137,088,775 		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 chr 3:119,654,019...119,664,918
Ensembl chr 3:126,558,924...126,569,807 		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 chr 3:118,936,685...118,996,051
Ensembl chr 3:125,844,338...125,895,416 		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 3:125,199,895...125,456,133
Ensembl chr 3:132,564,877...132,819,647 		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 3:126,440,640...126,486,906
Ensembl chr 3:133,794,387...133,839,898 		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 3:126,060,648...126,100,007 JBrowse link
G EPHB1 EPH receptor B1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:131,841,459...132,309,082
Ensembl chr 3:139,313,387...139,776,802 		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 chr 3:119,474,737...119,500,668
Ensembl chr 3:126,380,525...126,406,366 		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 chr 3:118,695,215...118,730,183
Ensembl chr 3:125,604,930...125,639,658 		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 chr 3:117,508,772...117,564,254
Ensembl chr 3:124,422,968...124,475,431 		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 3:125,526,537...125,535,649
Ensembl chr 3:132,890,508...132,899,035 		JBrowse link
G GOLGB1 golgin B1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:118,765,467...118,852,005
Ensembl chr 3:125,673,966...125,760,584 		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 chr 3:126,118,762...126,122,732
Ensembl chr 3:133,480,173...133,480,706 		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 chr 3:117,850,234...117,890,719
Ensembl chr 3:124,760,926...124,801,230 		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 chr 3:120,588,195...120,684,177 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 chr 3:118,733,505...118,763,177
Ensembl chr 3:125,642,973...125,669,095 		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 chr 3:122,091,832...122,204,436
Ensembl chr 3:128,969,817...129,028,317 		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 chr 3:117,735,772...117,790,096
Ensembl chr 3:124,646,431...124,700,733 		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 chr 3:126,339,758...126,367,166
Ensembl chr 3:133,694,676...133,721,519 		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 chr 3:119,832,903...119,883,383
Ensembl chr 3:126,737,419...126,786,484 		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 3:126,498,018...126,578,211
Ensembl chr 3:133,851,433...133,930,117 		JBrowse link
G IL20RB interleukin 20 receptor subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:133,995,863...134,045,206
Ensembl chr 3:141,474,161...141,504,744 		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 chr 3:119,088,855...119,124,831
Ensembl chr 3:125,996,018...126,032,041 		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 chr 3:118,871,589...118,936,591
Ensembl chr 3:125,779,453...125,844,242 		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 3:126,187,354...126,219,355
Ensembl chr 3:133,545,726...133,575,974 		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 chr 3:121,863,676...122,013,438
Ensembl chr 3:128,762,200...128,877,172 		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 chr 3:121,138,136...121,828,723
Ensembl chr 3:128,225,413...128,720,441 		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 chr 3:124,953,061...125,029,289
Ensembl chr 3:132,271,194...132,336,005 		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 chr 3:123,395,678...123,410,514
Ensembl chr 3:130,712,599...130,724,530 		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 chr 3:119,513,919...119,604,737
Ensembl chr 3:126,421,700...126,510,325 		JBrowse link
G KY kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:131,646,356...131,697,727
Ensembl chr 3:139,120,711...139,168,785 		JBrowse link
G LOC100968217 collagen alpha-6(VI) chain ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr 3:127,610,752...127,764,533
Ensembl chr 3:134,977,079...135,086,060 		JBrowse link
G LOC100971108 ropporin-1B 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 3:123,032,485...123,046,831 JBrowse link
G LOC100984477 uncharacterized protein C3orf36 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:130,973,660...130,974,164 JBrowse link
G LOC100993446 histone H1.8 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:126,600,616...126,609,319
Ensembl chr 3:133,952,981...133,961,243 		JBrowse link
G LOC117979756 histone H1.10 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:126,375,743...126,377,467 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 chr 3:126,489,125...126,498,034
Ensembl chr 3:133,839,643...133,851,450 		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 3:124,643,362...124,667,121
Ensembl chr 3:131,950,887...131,974,641 		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 3:124,733,770...124,865,302
Ensembl chr 3:132,040,430...132,171,731 		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 chr 3:119,447,990...119,473,899
Ensembl chr 3:126,356,033...126,379,627 		JBrowse link
G MRPL3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:128,544,224...128,609,045
Ensembl chr 3:135,866,397...135,907,043 		JBrowse link
G MSL2 MSL complex subunit 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:133,203,579...133,252,294
Ensembl chr 3:140,667,652...140,714,294 		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 chr 3:122,032,535...122,060,974
Ensembl chr 3:128,907,662...128,934,426 		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 chr 3:120,711,705...120,983,432
Ensembl chr 3:127,614,173...127,793,261 		JBrowse link
G NCK1 NCK adaptor protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:133,902,463...133,990,414
Ensembl chr 3:141,427,870...141,451,444 		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 chr 3:117,704,061...117,710,071
Ensembl chr 3:124,614,838...124,620,850 		JBrowse link
G NEK11 NIMA related kinase 11 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:128,111,202...128,434,781
Ensembl chr 3:135,433,828...135,757,221 		JBrowse link
G NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:129,753,399...129,795,300 JBrowse link
G NUDT16 nudix hydrolase 16 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:128,466,119...128,473,186
Ensembl chr 3:135,788,354...135,790,038 		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 chr 3:122,662,013...122,731,769
Ensembl chr 3:129,525,882...129,594,899 		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 chr 3:119,773,334...119,823,732
Ensembl chr 3:126,677,868...126,728,256 		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 chr 3:119,665,014...119,730,198
Ensembl chr 3:126,601,919...126,634,842 		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 chr 3:119,617,722...119,655,039
Ensembl chr 3:126,522,859...126,559,647 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270 		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 chr 3:120,155,981...120,250,961
Ensembl chr 3:127,059,751...127,154,451 		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 3:127,743,873...127,834,512
Ensembl chr 3:135,089,584...135,157,193 		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 3:124,026,069...124,080,241
Ensembl chr 3:131,340,584...131,393,561 		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 3:126,613,065...126,664,643 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 3:124,673,860...124,717,469
Ensembl chr 3:131,981,894...132,023,747 		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 chr 3:118,535,968...118,648,275
Ensembl chr 3:125,446,829...125,559,283 		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 3:133,017,166...133,202,163
Ensembl chr 3:140,485,925...140,666,592 		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 chr 3:124,235,876...124,240,920
Ensembl chr 3:131,552,303...131,553,031 		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 3:126,145,723...126,179,989
Ensembl chr 3:133,504,093...133,538,331 		JBrowse link
G RAB6B RAB6B, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:130,869,494...130,941,280
Ensembl chr 3:138,344,815...138,416,358 		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 chr 3:125,784,604...125,873,051 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 chr 3:117,794,224...117,850,184
Ensembl chr 3:124,707,984...124,748,983 		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 3:126,586,510...126,593,028
Ensembl chr 3:133,938,419...133,944,928 		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 chr 3:121,074,182...121,097,320
Ensembl chr 3:127,973,536...127,996,694 		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 3:125,666,844...125,697,922
Ensembl chr 3:133,032,560...133,058,666 		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 3:125,120,524...125,200,859
Ensembl chr 3:132,486,229...132,528,918 		JBrowse link
G RYK receptor like tyrosine kinase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:131,174,507...131,296,815 JBrowse link
G SEC22A SEC22 homolog A, vesicle trafficking protein ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:120,299,636...120,370,517
Ensembl chr 3:127,203,060...127,271,841 		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 3:125,091,916...125,111,238
Ensembl chr 3:132,457,005...132,476,935 		JBrowse link
G SEMA5B semaphorin 5B ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:119,996,933...120,116,899
Ensembl chr 3:126,900,966...126,986,186 		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 chr 3:122,214,558...122,344,797
Ensembl chr 3:129,080,749...129,210,872 		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 chr 3:118,996,023...119,044,423
Ensembl chr 3:125,902,978...125,951,963 		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 3:133,861,781...133,897,920
Ensembl chr 3:141,354,685...141,355,923 		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 3:123,069,790...123,147,408
Ensembl chr 3:130,388,082...130,465,689 		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 chr 3:119,883,252...119,968,881
Ensembl chr 3:126,782,782...126,872,936 		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 3:130,978,103...131,075,786
Ensembl chr 3:138,454,881...138,549,785 		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 chr 3:122,578,527...122,652,007
Ensembl chr 3:129,443,369...129,515,917 		JBrowse link
G SRPRB SRP receptor subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:130,850,953...130,865,940
Ensembl chr 3:138,325,988...138,342,056 		JBrowse link
G STAG1 STAG1 cohesin complex component ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:133,388,783...133,795,985
Ensembl chr 3:140,852,107...141,138,138 		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 chr 3:118,022,061...118,529,311
Ensembl chr 3:124,932,110...125,434,515 		JBrowse link
G TF transferrin ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476 		JBrowse link
G TMCC1 transmembrane and coiled-coil domain family 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 3:126,705,270...126,955,798
Ensembl chr 3:134,056,876...134,288,588 		JBrowse link
G TMEM108 transmembrane protein 108 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:130,105,824...130,468,122
Ensembl chr 3:137,775,339...137,944,660 		JBrowse link
G TOPBP1 DNA topoisomerase II binding protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:130,667,998...130,729,569
Ensembl chr 3:138,143,893...138,203,363 		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 chr 3:124,618,386...124,636,075
Ensembl chr 3:131,926,486...131,943,709 		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 3:127,037,069...127,041,299
Ensembl chr 3:134,383,016...134,387,736 		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 3:123,644,679...123,697,563
Ensembl chr 3:130,967,026...131,013,667 		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 3:129,732,314...129,752,579
Ensembl chr 3:137,209,715...137,227,147 		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 chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029 		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 chr 3:123,530,644...123,569,337
Ensembl chr 3:130,846,775...130,882,119 		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 chr 3:119,503,001...119,506,814
Ensembl chr 3:126,410,902...126,411,894 		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 chr 3:122,357,670...122,507,142
Ensembl chr 3:129,229,690...129,320,554 		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 3:123,486,239...123,524,826 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15759
    disease of anatomical entity 15436
      immune system disease 4551
        lymphatic system disease 1687
          lymphedema 156
            Aagenaes syndrome 1
            Breast Cancer Lymphedema + 0
            Choanal Atresia and Lymphedema 1
            Dahlberg Borer Newcomer Syndrome 0
            German Syndrome 0
            Hennekam syndrome + 3
            Lymphedema and Cerebral Arteriovenous Anomaly 0
            Lymphedema, Cardiac Septal Defects, and Characteristic Facies 0
            Non-Filarial Lymphedema 0
            Primary Lymphedema with Myelodysplasia 127
            Waldmann Disease 0
            ectodermal dysplasia and immunodeficiency 1 2
            elephantiasis + 0
            hereditary lymphedema + 15
            hypotrichosis-lymphedema-telangiectasia syndrome + 1
            lymphedema-distichiasis syndrome + 1
            microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
Path 2
Term Annotations click to browse term
  disease 15759
    disease of anatomical entity 15436
      Immune & Inflammatory Diseases 5226
        immune system disease 4551
          lymphatic system disease 1687
            lymphedema 156
              Aagenaes syndrome 1
              Breast Cancer Lymphedema + 0
              Choanal Atresia and Lymphedema 1
              Dahlberg Borer Newcomer Syndrome 0
              German Syndrome 0
              Hennekam syndrome + 3
              Lymphedema and Cerebral Arteriovenous Anomaly 0
              Lymphedema, Cardiac Septal Defects, and Characteristic Facies 0
              Non-Filarial Lymphedema 0
              Primary Lymphedema with Myelodysplasia 127
              Waldmann Disease 0
              ectodermal dysplasia and immunodeficiency 1 2
              elephantiasis + 0
              hereditary lymphedema + 15
              hypotrichosis-lymphedema-telangiectasia syndrome + 1
              lymphedema-distichiasis syndrome + 1
              microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
paths to the root