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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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle, aorta ISO mRNA:increased expression:adipose tissue: RGD PMID:21510802 RGD:12879442 NCBI chr19:34,217,736...34,232,985
Ensembl chr19:34,218,490...34,232,990 		JBrowse link
G Dchs1 dachsous cadherin related 1 ISO ClinVar Annotator: match by term: Lymphedema ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:105,402,196...105,437,562
Ensembl chr 7:105,402,197...105,436,861 		JBrowse link
G Flt4 FMS-like tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Early onset lymphedema		 CTD
ClinVar		 PMID:16965327 PMID:25741868 NCBI chr11:49,500,506...49,543,566
Ensembl chr11:49,500,090...49,543,566 		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 chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634 		JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21892158 NCBI chr 6:88,170,873...88,184,014
Ensembl chr 6:88,170,873...88,184,014 		JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO DNA:missense mutations:cds:p.S48L, p.M210R (human)
DNA:missense mutations:cds:multiple (human)		 RGD PMID:21266381 PMID:20537300 RGD:13208589, RGD:13208590 NCBI chr11:59,066,390...59,074,039
Ensembl chr11:59,066,394...59,074,039 		JBrowse link
G Met met proto-oncogene 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 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G Pgf placental growth factor ISO associated with Elephantiasis, Filarial;protein:increased expression:plasma RGD PMID:20889885 RGD:6483608 NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564 		JBrowse link
Aagenaes syndrome term browser
Symbol Object Name Qualifiers 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 chr 7:79,975,040...79,990,748
Ensembl chr 7:79,975,040...79,997,741 		JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Qualifiers 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 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931 		JBrowse link
G Mdfic MyoD family inhibitor domain containing IAGP
ISO		 OMIM:617300
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY		 MouseDO
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 6:15,720,660...15,802,168
Ensembl chr 6:15,720,660...15,802,168 		JBrowse link
G Slc12a9 solute carrier family 12 (potassium/chloride transporters), member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:137,312,820...137,338,331
Ensembl chr 5:137,312,820...137,331,859 		JBrowse link
Choanal Atresia and Lymphedema term browser
Symbol Object Name Qualifiers 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 1:189,460,417...189,608,892
Ensembl chr 1:189,460,465...189,608,892 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Ikbkg inhibitor of kappaB kinase 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
CTD Direct Evidence: marker/mechanism
DNA:mutation:splicing site:		 OMIM
ClinVar
CTD
RGD		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 term browser
Symbol Object Name Qualifiers 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 chr18:66,189,926...66,424,909
Ensembl chr18:66,178,373...66,435,812 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 ClinVar PMID:25741868 NCBI chr 3:38,939,867...39,066,134
Ensembl chr 3:38,941,089...39,066,134 		JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 term browser
Symbol Object Name Qualifiers 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 3:38,939,867...39,066,134
Ensembl chr 3:38,941,089...39,066,134 		JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 term browser
Symbol Object Name Qualifiers 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 5:89,821,700...90,031,521
Ensembl chr 5:89,824,946...90,031,193 		JBrowse link
Hennekam syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LYMPHATIC DYSPLASIA, GENERALIZED		 CTD
ClinVar		 PMID:19911200 PMID:19935664 PMID:25741868 PMID:25814692 PMID:28492532 More... NCBI chr18:66,189,926...66,424,909
Ensembl chr18:66,178,373...66,435,812 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:38,939,867...39,066,134
Ensembl chr 3:38,941,089...39,066,134 		JBrowse link
hereditary lymphedema term browser
Symbol Object Name Qualifiers 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: Hereditary lymphedema ClinVar PMID:25741868 PMID:31215153 NCBI chr15:85,782,959...85,918,424
Ensembl chr15:85,783,130...85,918,404 		JBrowse link
G Flt4 FMS-like tyrosine kinase 4 IAGP
ISO		 OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907
ClinVar Annotator: match by term: Primary congenital lymphedema		 MouseDO
ClinVar		 PMID:16965327 PMID:25741868 NCBI chr11:49,500,506...49,543,566
Ensembl chr11:49,500,090...49,543,566 		JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial ISO ClinVar Annotator: match by term: Hereditary lymphedema ClinVar NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140 		JBrowse link
G Vegfc vascular endothelial growth factor C IAGP OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907 MouseDO NCBI chr 8:54,530,567...54,639,489
Ensembl chr 8:54,530,641...54,640,131 		JBrowse link
hereditary lymphedema I term browser
Symbol Object Name Qualifiers 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 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931 		JBrowse link
G Flt4 FMS-like 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 chr11:49,500,506...49,543,566
Ensembl chr11:49,500,090...49,543,566 		JBrowse link
hereditary lymphedema IA term browser
Symbol Object Name Qualifiers 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 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931 		JBrowse link
G Flt4 FMS-like 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 chr11:49,500,506...49,543,566
Ensembl chr11:49,500,090...49,543,566 		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 chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
hereditary lymphedema IC term browser
Symbol Object Name Qualifiers 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 chr11:59,066,390...59,074,039
Ensembl chr11:59,066,394...59,074,039 		JBrowse link
hereditary lymphedema ID term browser
Symbol Object Name Qualifiers 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 8:54,530,567...54,639,489
Ensembl chr 8:54,530,641...54,640,131 		JBrowse link
hypotrichosis-lymphedema-telangiectasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox18 SRY (sex determining region Y)-box 18 ISO DNA:missense mutations, nonsense mutation: 455G>C (p.A104P), 428T>A (p.W95R), 865C>A (p.C240X) (human)
ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:11701398 PMID:12740761 PMID:24697860 PMID:26148450 PMID:28492532 More... RGD:1599075 NCBI chr 2:181,311,630...181,313,433
Ensembl chr 2:181,311,629...181,313,433 		JBrowse link
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox18 SRY (sex determining region Y)-box 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... NCBI chr 2:181,311,630...181,313,433
Ensembl chr 2:181,311,629...181,313,433 		JBrowse link
Lymphatic Malformation 10 term browser
Symbol Object Name Qualifiers 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 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578 		JBrowse link
G Mcph1 microcephaly, primary autosomal recessive 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 10 ClinVar PMID:32908006 NCBI chr 8:18,645,132...18,858,110
Ensembl chr 8:18,645,147...18,853,205 		JBrowse link
Lymphatic Malformation 11 term browser
Symbol Object Name Qualifiers 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 4:118,328,388...118,347,046
Ensembl chr 4:118,328,388...118,347,258 		JBrowse link
Lymphatic Malformation 12 term browser
Symbol Object Name Qualifiers 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 6:15,720,660...15,802,168
Ensembl chr 6:15,720,660...15,802,168 		JBrowse link
Lymphatic Malformation 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thsd1 thrombospondin, type I, domain 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 13 OMIM
ClinVar		 PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873 NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350 		JBrowse link
Lymphatic Malformation 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erg ETS transcription factor ISO ClinVar Annotator: match by term: Lymphatic malformation 14 OMIM
ClinVar		 PMID:36928819 NCBI chr16:95,160,028...95,387,452
Ensembl chr16:95,160,028...95,387,452 		JBrowse link
lymphatic malformation 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo1 piezo-type mechanosensitive ion channel component 1 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 chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068 		JBrowse link
G Tbx19 T-box 19 ISO ClinVar Annotator: match by term: Lymphedema, hereditary, III ClinVar PMID:25741868 NCBI chr 1:164,965,403...164,988,342
Ensembl chr 1:164,965,424...164,988,342 		JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calcrl calcitonin receptor-like ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar		 PMID:25741868 NCBI chr 2:84,160,970...84,255,786
Ensembl chr 2:84,160,970...84,255,755 		JBrowse link
Lymphatic Malformation 9 term browser
Symbol Object Name Qualifiers 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 NCBI chr15:85,782,959...85,918,424
Ensembl chr15:85,783,130...85,918,404 		JBrowse link
lymphedema-distichiasis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Distichiasis-lymphedema syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10417285 PMID:11078474 PMID:11371511 PMID:11499682 PMID:12114478 More... NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634 		JBrowse link
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus term browser
Symbol Object Name Qualifiers 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 chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634 		JBrowse link
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name Qualifiers 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 chr19:37,364,830...37,410,311
Ensembl chr19:37,364,851...37,410,307 		JBrowse link
Primary Lymphedema with Myelodysplasia term browser
Symbol Object Name Qualifiers 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: Emberger syndrome 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 susceptibility 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: Emberger syndrome 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 16180
    disease of anatomical entity 15794
      immune system disease 4626
        lymphatic system disease 1720
          lymphedema 153
            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 122
            Waldmann Disease 0
            ectodermal dysplasia and immunodeficiency 1 2
            elephantiasis + 0
            hereditary lymphedema + 17
            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 16180
    disease of anatomical entity 15794
      Immune & Inflammatory Diseases 5353
        immune system disease 4626
          lymphatic system disease 1720
            lymphedema 153
              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 122
              Waldmann Disease 0
              ectodermal dysplasia and immunodeficiency 1 2
              elephantiasis + 0
              hereditary lymphedema + 17
              hypotrichosis-lymphedema-telangiectasia syndrome + 1
              lymphedema-distichiasis syndrome + 1
              microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
paths to the root