Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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.

GViewer not supported for the selected species.

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 ISO mRNA:increased expression:adipose tissue: RGD PMID:21510802 RGD:12879442 NCBI chr 9:82,358,937...82,376,289
Ensembl chr 9:82,359,086...82,372,446 		JBrowse link
G DCHS1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Lymphedema ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:58,170,494...58,204,156
Ensembl chr 1:58,184,591...58,205,962 		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 chr23:82,328,257...82,373,785
Ensembl chr23:82,328,258...82,357,044 		JBrowse link
G FOXC2 forkhead box C2 ISO lymphedema-distichiasis syndrome,OMIM:153400;DNA:insertion:1006insA
lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA		 RGD PMID:11371511 PMID:15523639 RGD:1601216 RGD:1601217 NCBI chr 5:71,951,980...71,955,021
Ensembl chr 5:71,952,632...71,954,134 		JBrowse link
G GATA2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21892158 NCBI chr22:52,549,112...52,562,911
Ensembl chr22:52,555,738...52,562,909 		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 chr25:1,568,664...1,579,279
Ensembl chr25:1,569,427...1,570,752 		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 chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093 		JBrowse link
G PGF placental growth factor ISO associated with Elephantiasis, Filarial;protein:increased expression:plasma RGD PMID:20889885 RGD:6483608 NCBI chr24:52,160,904...52,174,493
Ensembl chr24:52,161,787...52,173,989 		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 chr29:8,908,381...8,932,555
Ensembl chr29:8,908,141...8,923,031 		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 chr28:12,389,884...12,416,746
Ensembl chr28:12,389,942...12,416,920 		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 chr21:83,624,021...83,721,584
Ensembl chr21:83,625,299...83,718,507 		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 chr28:12,358,618...12,374,117
Ensembl chr28:12,359,056...12,373,458 		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 chr25:15,023,914...15,228,680
Ensembl chr25:15,110,687...15,219,492 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers 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:128,768,028...128,788,366
Ensembl chr  X:128,770,268...128,786,961 		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:128,781,975...128,816,039
Ensembl chr  X:128,787,785...128,806,083 		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 chr18:20,054,281...20,363,024
Ensembl chr18:20,271,874...20,309,784 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 ClinVar PMID:25741868 NCBI chr 7:72,498,182...72,686,607
Ensembl chr 7:72,500,264...72,685,546 		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 7:72,498,182...72,686,607
Ensembl chr 7:72,500,264...72,685,546 		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 7:20,793,392...21,068,712
Ensembl chr 7:20,793,399...21,048,515 		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 ClinVar Annotator: match by term: LYMPHATIC DYSPLASIA, GENERALIZED ClinVar PMID:19935664 PMID:25741868 PMID:25814692 PMID:28492532 PMID:28985353 More... NCBI chr18:20,054,281...20,363,024
Ensembl chr18:20,271,874...20,309,784 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:72,498,182...72,686,607
Ensembl chr 7:72,500,264...72,685,546 		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 chr19:28,842,332...29,030,672
Ensembl chr19:28,844,644...29,030,216 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Primary congenital lymphedema ClinVar PMID:16965327 PMID:25741868 NCBI chr23:82,328,257...82,373,785
Ensembl chr23:82,328,258...82,357,044 		JBrowse link
G LOC103231165 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Hereditary lymphedema ClinVar NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657 		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 7:122,772,539...122,893,486
Ensembl chr 7:122,772,182...122,893,512 		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 chr28:12,389,884...12,416,746
Ensembl chr28:12,389,942...12,416,920 		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 chr23:82,328,257...82,373,785
Ensembl chr23:82,328,258...82,357,044 		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 chr28:12,389,884...12,416,746
Ensembl chr28:12,389,942...12,416,920 		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 chr23:82,328,257...82,373,785
Ensembl chr23:82,328,258...82,357,044 		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 chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339 		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 chr25:1,568,664...1,579,279
Ensembl chr25:1,569,427...1,570,752 		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 7:122,772,539...122,893,486
Ensembl chr 7:122,772,182...122,893,512 		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-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... NCBI chr 2:195,418...197,221 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-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... NCBI chr 2:195,418...197,221 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 8:6,283,619...6,345,320
Ensembl chr 8:6,280,584...6,344,729 		JBrowse link
G MCPH1 microcephalin 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 10 ClinVar PMID:32908006 NCBI chr 8:6,190,272...6,425,683
Ensembl chr 8:6,190,047...6,425,131 		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 chr20:89,483,089...89,505,716
Ensembl chr20:89,483,039...89,505,246 		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 chr21:83,624,021...83,721,584
Ensembl chr21:83,625,299...83,718,507 		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 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 chr 3:30,152,706...30,180,223
Ensembl chr 3:30,153,364...30,183,302 		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 ERG ISO ClinVar Annotator: match by term: Lymphatic malformation 14 OMIM
ClinVar		 PMID:36928819 NCBI chr 2:82,327,088...82,611,341
Ensembl chr 2:82,326,767...82,447,228 		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 (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 chr 5:74,100,675...74,167,194
Ensembl chr 5:74,100,929...74,134,167 		JBrowse link
G TBX19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: Lymphedema, hereditary, III ClinVar PMID:25741868 NCBI chr25:60,732,455...60,803,194
Ensembl chr25:60,730,901...60,764,487 		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 receptor ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar		 PMID:25741868 NCBI chr10:72,884,271...72,986,916
Ensembl chr10:72,887,139...72,925,198 		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 chr19:28,842,332...29,030,672
Ensembl chr19:28,844,644...29,030,216 		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 OMIM
ClinVar		 PMID:10417285 PMID:11078474 PMID:11371511 PMID:11499682 PMID:12114478 More... NCBI chr 5:71,951,980...71,955,021
Ensembl chr 5:71,952,632...71,954,134 		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 5:71,951,980...71,955,021
Ensembl chr 5:71,952,632...71,954,134 		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 chr 9:85,858,364...85,923,211
Ensembl chr 9:85,858,381...85,923,819 		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 chr22:53,362,464...53,370,526
Ensembl chr22:53,362,918...53,370,462 		JBrowse link
G ACAD11 acyl-CoA dehydrogenase family member 11 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:57,632,139...57,706,468
Ensembl chr15:57,626,742...57,707,504 		JBrowse link
G ACAD9 acyl-CoA dehydrogenase family member 9 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chr22:52,143,869...52,166,123
Ensembl chr22:52,144,454...52,169,365 		JBrowse link
G ACKR4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:57,664,659...57,670,334
Ensembl chr15:57,665,407...57,666,459 		JBrowse link
G ACP3 acid phosphatase 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:57,887,528...57,934,851
Ensembl chr15:57,887,365...57,934,707 		JBrowse link
G ADCY5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:57,427,711...57,589,440 JBrowse link
G ALDH1L1 aldehyde dehydrogenase 1 family member L1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:54,848,868...54,933,415
Ensembl chr22:54,848,901...54,934,629 		JBrowse link
G AMOTL2 angiomotin like 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,002,474...56,021,838
Ensembl chr15:56,003,236...56,022,123 		JBrowse link
G ANAPC13 anaphase promoting complex subunit 13 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:55,892,385...55,901,168
Ensembl chr15:55,895,970...55,900,256 		JBrowse link
G ARGFX arginine-fifty homeobox ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:59,301,808...59,304,209 JBrowse link
G ASTE1 asteroid homolog 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:59,178,704...59,186,556 JBrowse link
G ATP2C1 ATPase secretory pathway Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr15:59,189,075...59,348,684
Ensembl chr15:59,188,225...59,311,709 		JBrowse link
G BFSP2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,854,537...56,920,987
Ensembl chr15:56,855,060...56,918,760 		JBrowse link
G CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756 		JBrowse link
G CCDC14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:56,889,424...56,939,915 JBrowse link
G CD86 CD86 molecule ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366 		JBrowse link
G CDV3 CDV3 homolog ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,748,457...56,752,135
Ensembl chr15:56,758,078...56,771,132 		JBrowse link
G CEP63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:55,821,117...55,892,951
Ensembl chr15:55,821,487...55,892,398 		JBrowse link
G CFAP100 cilia and flagella associated protein 100 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:54,581,573...54,622,842
Ensembl chr22:54,581,104...54,622,970 		JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:52,066,203...52,146,937
Ensembl chr22:52,075,051...52,148,337 		JBrowse link
G CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:54,019,128...54,276,242
Ensembl chr22:54,025,361...54,276,197 		JBrowse link
G CHST13 carbohydrate sulfotransferase 13 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:54,471,165...54,491,436
Ensembl chr22:54,471,879...54,490,342 		JBrowse link
G CNBP CCHC-type zinc finger nucleic acid binding protein ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:51,877,171...51,891,912
Ensembl chr22:51,876,545...51,890,946 		JBrowse link
G COL6A5 collagen type VI alpha 5 chain ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr15:59,713,906...59,826,244
Ensembl chr15:59,709,540...59,802,956 		JBrowse link
G COL6A6 collagen type VI alpha 6 chain ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr15:59,517,463...59,671,767
Ensembl chr15:59,519,231...59,670,639 		JBrowse link
G COPG1 COPI coat complex subunit gamma 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:51,787,002...51,812,031
Ensembl chr22:51,787,340...51,812,026 		JBrowse link
G CPNE4 copine 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:58,199,223...58,703,663 JBrowse link
G CSTA cystatin A ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:58,519,085...58,536,163
Ensembl chr22:58,519,085...58,536,339 		JBrowse link
G CUNH3orf22 chromosome unknown C3orf22 homolog ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:54,455,637...54,465,446
Ensembl chr22:54,461,735...54,465,250 		JBrowse link
G DNAJB8 DnaJ heat shock protein family (Hsp40) member B8 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:2322343 PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 More... NCBI chr22:52,579,012...52,580,072
Ensembl chr22:52,579,259...52,579,957 		JBrowse link
G DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:57,727,636...57,846,469
Ensembl chr15:57,726,576...57,846,478 		JBrowse link
G DTX3L deltex E3 ubiquitin ligase 3L ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:58,287,331...58,298,519
Ensembl chr22:58,290,764...58,298,376 		JBrowse link
G EAF2 ELL associated factor 2 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:58,966,640...59,025,158
Ensembl chr22:58,974,409...59,025,143 		JBrowse link
G EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More... NCBI chr22:52,633,932...52,887,812
Ensembl chr22:52,633,274...52,887,838 		JBrowse link
G EFCAB12 EF-hand calcium binding domain 12 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:51,628,680...51,656,867
Ensembl chr22:51,629,304...51,656,596 		JBrowse link
G EFCC1 EF-hand and coiled-coil domain containing 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:52,023,814...52,066,719
Ensembl chr22:52,023,262...52,066,700 		JBrowse link
G EPHB1 EPH receptor B1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:55,144,178...55,592,252
Ensembl chr15:55,143,630...55,589,862 		JBrowse link
G FAM162A family with sequence similarity 162 member A ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:58,451,115...58,476,960
Ensembl chr22:58,449,189...58,476,959 		JBrowse link
G FBXO40 F-box protein 40 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:59,259,107...59,295,391
Ensembl chr22:59,256,354...59,295,017 		JBrowse link
G FSTL1 follistatin like 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:60,371,309...60,427,259
Ensembl chr22:60,371,554...60,428,764 		JBrowse link
G GATA2 GATA binding protein 2 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 chr22:52,549,112...52,562,911
Ensembl chr22:52,555,738...52,562,909 		JBrowse link
G GOLGB1 golgin B1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:59,124,023...59,223,181
Ensembl chr22:59,143,188...59,223,656 		JBrowse link
G GP9 glycoprotein IX platelet ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:52,000,620...52,013,570
Ensembl chr22:52,000,758...52,001,291 		JBrowse link
G GTF2E1 general transcription factor IIE subunit 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:60,057,393...60,094,926
Ensembl chr22:60,056,720...60,094,835 		JBrowse link
G H1FOO H1 histone family member O, oocyte specific ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:51,497,111...51,506,007 JBrowse link
G H1FX H1 histone family member X ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:51,749,560...51,751,081
Ensembl chr22:51,749,948...51,750,586 		JBrowse link
G HACD2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:57,285,948...57,379,894
Ensembl chr22:57,322,657...57,381,683 		JBrowse link
G HCLS1 hematopoietic cell-specific Lyn substrate 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:59,225,768...59,255,744
Ensembl chr22:59,225,750...59,256,243 		JBrowse link
G HEG1 heart development protein with EGF like domains 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:55,782,039...55,874,679
Ensembl chr22:55,809,901...55,871,402 		JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:60,136,293...60,192,275
Ensembl chr22:60,137,532...60,192,430 		JBrowse link
G HMCES 5-hydroxymethylcytosine binding, ES cell specific ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:51,759,776...51,785,902
Ensembl chr22:51,759,715...51,785,987 		JBrowse link
G HSPBAP1 HSPB1 associated protein 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:58,081,374...58,131,789
Ensembl chr22:58,081,832...58,132,236 		JBrowse link
G IFT122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:51,528,383...51,616,757
Ensembl chr22:51,528,254...51,616,682 		JBrowse link
G IL20RB interleukin 20 receptor subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:53,446,410...53,493,827
Ensembl chr15:53,448,034...53,493,618 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:58,833,754...58,870,547
Ensembl chr22:58,834,293...58,870,303 		JBrowse link
G IQCB1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:59,025,265...59,097,930
Ensembl chr22:59,025,261...59,098,138 		JBrowse link
G ISY1 ISY1 splicing factor homolog ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:51,905,564...51,940,705
Ensembl chr22:51,907,290...51,938,847 		JBrowse link
G ITGB5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:55,944,810...56,070,605
Ensembl chr22:55,944,865...56,069,930 		JBrowse link
G KALRN kalirin RhoGEF kinase ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:56,106,677...56,820,004
Ensembl chr22:56,151,819...56,754,538 		JBrowse link
G KBTBD12 kelch repeat and BTB domain containing 12 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:53,058,678...53,128,987
Ensembl chr22:53,062,102...53,128,978 		JBrowse link
G KLF15 KLF transcription factor 15 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:54,659,406...54,674,321
Ensembl chr22:54,659,703...54,674,368 		JBrowse link
G KPNA1 karyopherin subunit alpha 1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:58,346,008...58,437,737
Ensembl chr22:58,346,009...58,439,143 		JBrowse link
G KY kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:55,730,153...55,780,641
Ensembl chr15:55,730,770...55,780,791 		JBrowse link
G LOC103228133 ropporin-1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:55,052,992...55,065,866 JBrowse link
G LOC103228163 ropporin-1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:56,858,260...56,882,208 JBrowse link
G LOC103241648 chromosome 15 C3orf36 homolog ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,433,105...56,435,304 JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:51,616,840...51,626,232
Ensembl chr22:51,616,803...51,626,224 		JBrowse link
G MCM2 minichromosome maintenance complex component 2 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:53,419,958...53,452,720
Ensembl chr22:53,420,417...53,444,095 		JBrowse link
G MGLL monoglyceride lipase ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:53,092,970...53,354,316
Ensembl chr22:53,218,672...53,354,448 		JBrowse link
G MIX23 mitochondrial matrix import factor 23 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:58,477,053...58,501,342
Ensembl chr22:58,489,161...58,502,366 		JBrowse link
G MRPL3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:58,732,262...58,772,638
Ensembl chr15:58,732,268...58,772,538 		JBrowse link
G MSL2 MSL complex subunit 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:54,246,090...54,290,809
Ensembl chr15:54,246,127...54,288,555 		JBrowse link
G MUC13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:55,898,876...55,930,379
Ensembl chr22:55,899,901...55,930,454 		JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:57,032,264...57,259,253
Ensembl chr22:57,065,331...57,257,464 		JBrowse link
G NCK1 NCK adaptor protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:53,501,152...53,595,500
Ensembl chr15:53,500,623...53,523,576 		JBrowse link
G NDUFB4 NADH:ubiquinone oxidoreductase subunit B4 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:60,219,834...60,226,180 JBrowse link
G NEK11 NIMA related kinase 11 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:58,884,879...59,178,575
Ensembl chr15:58,884,771...59,175,470 		JBrowse link
G NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:57,550,878...57,629,106
Ensembl chr15:57,551,189...57,592,661 		JBrowse link
G NUDT16 nudix hydrolase 16 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:58,847,418...58,849,133
Ensembl chr15:58,847,560...58,849,246 		JBrowse link
G OSBPL11 oxysterol binding protein like 11 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:55,228,864...55,302,285
Ensembl chr22:55,228,900...55,302,892 		JBrowse link
G PARP14 poly(ADP-ribose) polymerase family member 14 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:58,135,092...58,185,988
Ensembl chr22:58,134,973...58,185,521 		JBrowse link
G PARP15 poly(ADP-ribose) polymerase family member 15 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:58,230,913...58,285,119
Ensembl chr22:58,231,542...58,264,046 		JBrowse link
G PARP9 poly(ADP-ribose) polymerase family member 9 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:58,297,526...58,336,243
Ensembl chr22:58,298,046...58,337,124 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:54,110,014...54,198,405
Ensembl chr15:54,108,389...54,198,329 		JBrowse link
G PDIA5 protein disulfide isomerase family A member 5 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:57,711,049...57,806,058
Ensembl chr22:57,711,041...57,806,037 		JBrowse link
G PIK3R4 phosphoinositide-3-kinase regulatory subunit 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr15:59,444,570...59,515,619
Ensembl chr15:59,444,616...59,515,240 		JBrowse link
G PLXNA1 plexin A1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:53,949,566...54,005,626
Ensembl chr22:53,951,119...53,999,812 		JBrowse link
G PLXND1 plexin D1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:51,440,797...51,493,370
Ensembl chr22:51,441,127...51,495,118 		JBrowse link
G PODXL2 podocalyxin like 2 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:53,370,668...53,405,832
Ensembl chr22:53,371,004...53,403,512 		JBrowse link
G POLQ DNA polymerase theta ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:59,336,506...59,448,609
Ensembl chr22:59,336,842...59,448,604 		JBrowse link
G PPP2R3A protein phosphatase 2 regulatory subunit B''alpha ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:54,291,843...54,480,733 JBrowse link
G PRR23E PRR23 family member E ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:53,820,882...53,823,658 JBrowse link
G RAB43 RAB43, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:51,945,938...51,983,412
Ensembl chr22:51,946,055...51,983,868 		JBrowse link
G RAB6B RAB6B, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,472,615...56,541,083
Ensembl chr15:56,472,634...56,541,434 		JBrowse link
G RAB7A RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chr22:52,231,481...52,309,276
Ensembl chr22:52,230,835...52,309,306 		JBrowse link
G RABL3 RAB, member of RAS oncogene family like 3 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:60,095,013...60,133,189
Ensembl chr22:60,095,066...60,136,337 		JBrowse link
G RHO rhodopsin ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:51,513,611...51,520,589
Ensembl chr22:51,515,081...51,519,974 		JBrowse link
G RPN1 ribophorin I ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chr22:52,391,793...52,417,341
Ensembl chr22:52,391,813...52,417,575 		JBrowse link
G RUVBL1 RuvB like AAA ATPase 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More... NCBI chr22:52,887,374...52,967,728
Ensembl chr22:52,924,819...52,967,830 		JBrowse link
G RYK receptor like tyrosine kinase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,127,048...56,217,407
Ensembl chr15:56,127,130...56,216,407 		JBrowse link
G SEC22A SEC22 homolog A, vesicle trafficking protein ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:57,597,146...57,666,370
Ensembl chr22:57,597,880...57,669,151 		JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More... NCBI chr22:52,977,101...52,994,766
Ensembl chr22:52,976,872...52,992,039 		JBrowse link
G SEMA5B semaphorin 5B ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:57,915,118...57,968,900
Ensembl chr22:57,915,344...57,967,793 		JBrowse link
G SLC12A8 solute carrier family 12 member 8 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:55,623,961...55,754,969
Ensembl chr22:55,646,406...55,754,209 		JBrowse link
G SLC15A2 solute carrier family 15 member 2 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:58,916,389...58,966,725
Ensembl chr22:58,913,676...58,966,906 		JBrowse link
G SLC35G2 solute carrier family 35 member G2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:53,601,248...53,638,034
Ensembl chr15:53,601,657...53,602,895 		JBrowse link
G SLC41A3 solute carrier family 41 member 3 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:54,950,899...55,030,060
Ensembl chr22:54,966,562...55,031,564 		JBrowse link
G SLC49A4 solute carrier family 49 member 4 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:57,998,168...58,080,900
Ensembl chr22:57,998,708...58,081,270 		JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,339,585...56,427,196
Ensembl chr15:56,339,744...56,430,032 		JBrowse link
G SNX4 sorting nexin 4 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:55,311,896...55,389,174
Ensembl chr22:55,311,933...55,389,349 		JBrowse link
G SRPRB SRP receptor subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,545,201...56,580,591
Ensembl chr15:56,544,391...56,560,045 		JBrowse link
G STAG1 STAG1 cohesin complex component ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:53,706,847...54,103,712
Ensembl chr15:53,706,974...54,101,707 		JBrowse link
G STXBP5L syntaxin binding protein 5L ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:59,460,278...59,938,228
Ensembl chr22:59,465,870...59,938,129 		JBrowse link
G TF transferrin ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,586,311...56,618,304
Ensembl chr15:56,586,104...56,618,149 		JBrowse link
G TMCC1 transmembrane and coiled-coil domain family 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:51,147,855...51,401,619
Ensembl chr22:51,375,793...51,401,626 		JBrowse link
G TMEM108 transmembrane protein 108 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,921,064...57,248,199
Ensembl chr15:56,921,069...57,200,901 		JBrowse link
G TOPBP1 DNA topoisomerase II binding protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:56,679,333...56,740,773
Ensembl chr15:56,679,426...56,741,566 		JBrowse link
G TPRA1 transmembrane protein adipocyte associated 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:53,447,383...53,467,709
Ensembl chr22:53,449,903...53,468,442 		JBrowse link
G TRH thyrotropin releasing hormone ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr22:51,075,814...51,079,852
Ensembl chr22:51,076,157...51,078,236 		JBrowse link
G TXNRD3 thioredoxin reductase 3 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:54,359,169...54,417,126
Ensembl chr22:54,361,034...54,417,397 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr15:57,596,490...57,613,103
Ensembl chr15:57,592,728...57,612,928 		JBrowse link
G UMPS uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:56,081,897...56,097,164
Ensembl chr22:56,082,103...56,097,105 		JBrowse link
G UROC1 urocanate hydratase 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:54,497,373...54,536,295
Ensembl chr22:54,499,487...54,535,862 		JBrowse link
G WDR5B WD repeat domain 5B ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr22:58,444,586...58,446,316
Ensembl chr22:58,445,149...58,446,141 		JBrowse link
G ZNF148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:55,467,453...55,609,050 JBrowse link
G ZXDC ZXD family zinc finger C ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr22:54,542,004...54,580,646
Ensembl chr22:54,542,167...54,579,883 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15338
    disease of anatomical entity 15021
      immune system disease 4457
        lymphatic system disease 1655
          lymphedema 157
            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 126
            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 15338
    disease of anatomical entity 15021
      Immune & Inflammatory Diseases 5120
        immune system disease 4457
          lymphatic system disease 1655
            lymphedema 157
              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 126
              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