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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 ISO mRNA:increased expression:adipose tissue: RGD PMID:21510802 RGD:12879442 NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713 		JBrowse link
G DCHS1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Lymphedema ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:3,099,525...3,134,825
Ensembl chr 9:3,113,451...3,134,821 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Early onset lymphedema ClinVar PMID:16965327 PMID:25741868 NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126 		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 6:2,552,141...2,555,041
Ensembl chr 6:2,552,862...2,554,367 		JBrowse link
G GATA2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21892158 NCBI chr13:71,981,139...71,997,626
Ensembl chr13:71,984,067...71,997,619 		JBrowse link
G GJC2 gap junction protein gamma 2 ISO DNA:missense mutations:cds:multiple (human)
DNA:missense mutations:cds:p.S48L, p.M210R (human)		 RGD PMID:20537300 PMID:21266381 RGD:13208589 RGD:13208590 NCBI chr 2:51,257,623...51,267,969
Ensembl chr 2:51,258,207...51,267,962 		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 chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512 		JBrowse link
G PGF placental growth factor ISO associated with Elephantiasis, Filarial;protein:increased expression:plasma RGD PMID:20889885 RGD:6483608 NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741 		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 7:53,530,914...53,545,960
Ensembl chr 7:53,522,474...53,545,960 		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 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783 		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 chr18:31,026,048...31,125,664
Ensembl chr18:31,027,056...31,125,465 		JBrowse link
G SLC12A9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:8,696,593...8,712,904
Ensembl chr 3:8,697,439...8,712,918 		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 9:129,114,668...129,248,898
Ensembl chr 9:129,055,698...129,248,578 		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:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		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:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		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 chr 1:161,320,627...161,556,539
Ensembl chr 1:161,321,273...161,556,537 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 ClinVar PMID:25741868 NCBI chr 8:99,141,967...99,312,131
Ensembl chr 8:99,148,496...99,310,519 		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 8:99,141,967...99,312,131
Ensembl chr 8:99,148,496...99,310,519 		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 8:68,675,067...68,948,537
Ensembl chr 8:68,675,070...68,948,414 		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 chr 1:161,320,627...161,556,539
Ensembl chr 1:161,321,273...161,556,537 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:99,141,967...99,312,131
Ensembl chr 8:99,148,496...99,310,519 		JBrowse link
hereditary lymphedema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Primary congenital lymphedema ClinVar PMID:16965327 PMID:25741868 NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Hereditary lymphedema ClinVar NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554 		JBrowse link
G LOC102159820 cadherin EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Hereditary lymphedema ClinVar PMID:25741868 PMID:31215153 NCBI chr 5:3,114,410...3,203,378
Ensembl chr 5:2,980,351...3,203,381 		JBrowse link
G VEGFC vascular endothelial growth factor C ISO OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907 MouseDO NCBI chr15:39,037,764...39,136,234
Ensembl chr15:39,039,311...39,132,936 		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 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Hereditary lymphedema type I ClinVar PMID:9817924 PMID:10835628 PMID:10856194 PMID:15904433 PMID:16924388 More... NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126 		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 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Hereditary lymphedema type I OMIM
ClinVar		 PMID:9817924 PMID:10835628 PMID:10856194 PMID:15904433 PMID:16924388 More... NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Edema of the dorsum of feet ClinVar PMID:25741868 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156 		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 chr 2:51,257,623...51,267,969
Ensembl chr 2:51,258,207...51,267,962 		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 chr15:39,037,764...39,136,234
Ensembl chr15:39,039,311...39,132,936 		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 chr17:62,869,868...62,871,758
Ensembl chr17:62,869,870...62,871,748 		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 chr17:62,869,868...62,871,758
Ensembl chr17:62,869,870...62,871,748 		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 chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041 		JBrowse link
G MCPH1 microcephalin 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 10 ClinVar PMID:32908006 NCBI chr15:37,455,186...37,674,971
Ensembl chr15:37,455,551...37,673,633 		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 6:167,919,662...167,947,253
Ensembl chr 6:167,919,668...167,940,870 		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 chr18:31,026,048...31,125,664
Ensembl chr18:31,027,056...31,125,465 		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 chr11:15,668,435...15,698,031
Ensembl chr11:15,668,813...15,697,872 		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 chr13:201,999,237...202,302,572
Ensembl chr13:202,000,995...202,301,368 		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 6:914,480...967,113
Ensembl chr 6:914,709...967,111 		JBrowse link
G TBX19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: Lymphedema, hereditary, III ClinVar PMID:25741868 NCBI chr 4:82,663,121...82,699,261
Ensembl chr 4:82,663,581...82,697,813 		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 chr15:92,233,264...92,332,459
Ensembl chr15:92,233,841...92,332,386 		JBrowse link
Lymphatic Malformation 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102159820 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 chr 5:3,114,410...3,203,378
Ensembl chr 5:2,980,351...3,203,381 		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 6:2,552,141...2,555,041
Ensembl chr 6:2,552,862...2,554,367 		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 6:2,552,141...2,555,041
Ensembl chr 6:2,552,862...2,554,367 		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 chr14:104,125,839...104,177,381
Ensembl chr14:104,125,898...104,177,379 		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 chr13:72,568,130...72,579,688
Ensembl chr13:72,573,339...72,579,192 		JBrowse link
G ACAD11 acyl-CoA dehydrogenase family member 11 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:73,733,508...73,831,496
Ensembl chr13:73,730,171...73,831,701 		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 chr13:71,374,926...71,422,431
Ensembl chr13:71,374,944...71,427,126 		JBrowse link
G ACKR4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:73,773,862...73,777,770
Ensembl chr13:73,772,392...73,777,805 		JBrowse link
G ACP3 acid phosphatase 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:73,471,837...73,530,778
Ensembl chr13:73,471,889...73,530,011 		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 chr13:136,965,746...137,133,795
Ensembl chr13:136,972,801...137,135,347 		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 7:53,748,585...53,794,777
Ensembl chr 7:53,748,653...53,794,706 		JBrowse link
G AMOTL2 angiomotin like 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:75,490,936...75,507,360
Ensembl chr13:75,490,942...75,509,420 		JBrowse link
G ANAPC13 anaphase promoting complex subunit 13 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:75,599,797...75,605,667
Ensembl chr13:75,599,800...75,605,140 		JBrowse link
G ASTE1 asteroid homolog 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:1,435,714...1,457,733
Ensembl chr13:1,435,678...1,449,855 		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 chr13:1,461,562...1,580,035
Ensembl chr13:1,438,615...1,612,676 		JBrowse link
G BFSP2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:74,557,878...74,639,459
Ensembl chr13:74,558,297...74,639,455 		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 chr13:138,279,785...138,364,934
Ensembl chr13:138,280,364...138,364,252 		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 chr13:136,439,015...136,502,604
Ensembl chr13:136,438,967...136,486,496 		JBrowse link
G CD86 CD86 molecule ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310 		JBrowse link
G CDV3 CDV3 homolog ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:74,705,351...74,721,154
Ensembl chr13:74,705,619...74,721,142 		JBrowse link
G CEP63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:75,605,622...75,707,087
Ensembl chr13:75,605,675...75,707,102 		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 7:53,909,353...53,949,648
Ensembl chr 7:53,921,369...53,949,622 		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 chr13:71,420,886...71,493,284
Ensembl chr13:71,423,231...71,492,763 		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 chr13:73,102,168...73,262,956
Ensembl chr13:73,109,927...73,254,981 		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 chr13:73,350,670...73,366,374
Ensembl chr13:73,350,671...73,366,085 		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 chr13:71,634,552...71,707,027
Ensembl chr13:71,630,566...71,646,563 		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 chr13:2,029,543...2,174,404
Ensembl chr13:2,029,959...2,174,384 		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 chr13:1,817,475...1,985,968
Ensembl chr13:1,817,406...1,985,799 		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 chr13:71,707,097...71,730,402
Ensembl chr13:71,672,733...71,730,399 		JBrowse link
G CPNE4 copine 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:367,801...963,775
Ensembl chr13:367,651...963,773 		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 chr13:72,010,213...72,015,376
Ensembl chr13:72,013,182...72,013,877 		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 chr13:73,573,887...73,707,951
Ensembl chr13:73,573,926...73,707,948 		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 chr13:137,950,266...137,961,381
Ensembl chr13:137,950,272...137,961,343 		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 chr13:138,632,541...138,681,607
Ensembl chr13:138,648,270...138,681,613 		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 chr13:72,041,409...72,196,345
Ensembl chr13:72,020,305...72,195,930 		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 chr13:68,794,489...68,813,999
Ensembl chr13:68,794,498...68,813,987 		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 chr13:71,504,832...71,538,394
Ensembl chr13:71,505,035...71,540,592 		JBrowse link
G EPHB1 EPH receptor B1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:75,904,678...76,351,540
Ensembl chr13:75,905,676...76,345,534 		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 chr13:138,115,499...138,151,828
Ensembl chr13:138,115,509...138,151,738 		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 chr13:138,881,528...138,905,410
Ensembl chr13:138,881,513...138,905,356 		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 chr13:139,847,246...139,901,972
Ensembl chr13:139,847,438...139,901,965 		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 chr13:71,981,139...71,997,626
Ensembl chr13:71,984,067...71,997,619 		JBrowse link
G GOLGB1 golgin B1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr13:138,754,803...138,847,254
Ensembl chr13:138,754,789...138,847,245 		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 chr13:71,558,768...71,565,134
Ensembl chr13:71,560,012...71,562,774 		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 chr13:139,565,891...139,609,483
Ensembl chr13:139,565,908...139,609,447 		JBrowse link
G H1-10 H1.10 linker histone ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr13:71,760,464...71,762,035
Ensembl chr13:71,760,467...71,761,839 		JBrowse link
G H1-8 H1.8 linker histone ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr13:68,921,491...68,943,061
Ensembl chr13:68,938,024...68,942,744 		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 chr13:136,834,103...136,933,564
Ensembl chr13:136,834,115...136,933,549 		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 chr13:138,852,387...138,883,088
Ensembl chr13:138,855,144...138,889,281 		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 chr13:135,268,566...135,358,673
Ensembl chr13:135,298,377...135,358,670 		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 chr13:139,660,315...139,710,402
Ensembl chr13:139,660,343...139,710,404 		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 chr13:71,732,311...71,752,296
Ensembl chr13:71,732,277...71,753,486 		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 chr13:137,739,144...137,805,990
Ensembl chr13:137,740,396...137,809,527 		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 chr13:68,828,710...68,902,062
Ensembl chr13:68,828,719...68,902,060 		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 chr13:138,530,905...138,575,483
Ensembl chr13:138,530,910...138,572,189 		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 chr13:138,689,544...138,741,228
Ensembl chr13:138,681,740...138,741,367 		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 chr13:135,468,111...135,587,483
Ensembl chr13:135,467,798...135,587,473 		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 chr13:135,653,795...136,277,072 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 chr13:72,299,096...72,365,575
Ensembl chr13:72,299,103...72,365,511 		JBrowse link
G KLF15 KLF transcription factor 15 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 7:53,877,813...53,890,558
Ensembl chr 7:53,877,818...53,889,144 		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 chr13:138,045,083...138,100,830
Ensembl chr13:138,018,407...138,103,838 		JBrowse link
G KY kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:75,726,031...75,774,981
Ensembl chr13:75,726,041...75,774,986 		JBrowse link
G LOC102162880 pre-mRNA-splicing factor ISY1 homolog ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr13:71,601,737...71,622,835
Ensembl chr13:71,599,237...71,622,840 		JBrowse link
G LOC396867 stefin A8 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr13:138,216,027...138,226,397
Ensembl chr13:138,181,723...138,236,860 		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 chr13:68,816,677...68,828,559
Ensembl chr13:68,816,679...68,828,580 		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 chr13:72,630,378...72,651,270
Ensembl chr13:72,630,380...72,657,786 		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 chr13:72,480,395...72,568,964
Ensembl chr13:72,480,174...72,568,961 		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 chr13:138,152,426...138,178,458
Ensembl chr13:138,152,491...138,178,444 		JBrowse link
G MRPL3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:984,985...1,024,185
Ensembl chr13:984,910...1,024,507 		JBrowse link
G MSL2 MSL complex subunit 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:77,147,823...77,181,410
Ensembl chr13:77,146,318...77,180,745 		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 chr13:135,416,709...135,446,337
Ensembl chr13:135,412,425...135,442,691 		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 chr13:136,509,878...136,809,674
Ensembl chr13:136,509,755...136,809,668 		JBrowse link
G NCK1 NCK adaptor protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:77,863,655...77,940,944
Ensembl chr13:77,863,701...77,945,468 		JBrowse link
G NCK1 NCK adaptor protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:77,946,356...77,986,158
Ensembl chr13:77,952,336...77,986,155 		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 chr13:139,724,145...139,730,492
Ensembl chr13:139,724,148...139,730,493 		JBrowse link
G NEK11 NIMA related kinase 11 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:1,145,225...1,435,690
Ensembl chr13:1,145,284...1,435,652 		JBrowse link
G NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:73,843,770...73,901,020
Ensembl chr13:73,858,427...73,900,967 		JBrowse link
G NUDT16 nudix hydrolase 16 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:1,125,180...1,128,036
Ensembl chr13:1,125,183...1,128,041 		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 chr13:134,718,351...134,807,152
Ensembl chr13:134,718,450...134,807,146 		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 chr13:137,809,499...137,865,383
Ensembl chr13:137,809,510...137,865,106 		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 chr13:137,882,179...137,936,389 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 chr13:137,960,987...138,000,862
Ensembl chr13:137,966,562...138,000,846 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,316,568 		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 chr13:137,300,086...137,398,465
Ensembl chr13:137,296,883...137,398,628 		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 chr13:1,730,988...1,815,555
Ensembl chr13:1,731,023...1,815,556 		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 chr13:73,054,434...73,098,786
Ensembl chr13:73,054,443...73,094,623 		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 chr13:68,946,658...68,996,625
Ensembl chr13:68,946,665...68,996,618 		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 chr13:72,579,310...72,630,179
Ensembl chr13:72,579,311...72,622,950 		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 chr13:138,962,634...139,108,499
Ensembl chr13:138,978,609...139,108,500 		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 chr13:76,945,318...77,148,521
Ensembl chr13:76,945,395...77,147,072 		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 chr13:72,876,782...72,879,304 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 chr13:71,564,250...71,596,318
Ensembl chr13:71,562,350...71,596,249 		JBrowse link
G RAB6B RAB6B, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:75,012,267...75,075,324
Ensembl chr13:75,012,268...75,075,239 		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 chr13:71,777,422...71,886,758
Ensembl chr13:71,777,424...71,852,694 		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 chr13:139,609,164...139,653,951
Ensembl chr13:139,603,454...139,652,431 		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 chr13:68,908,578...68,913,651
Ensembl chr13:68,908,578...68,913,651 		JBrowse link
G ROPN1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr13:136,395,628...136,428,170 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 chr13:71,892,600...71,908,772
Ensembl chr13:71,892,002...71,908,932 		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 chr13:72,196,219...72,246,514
Ensembl chr13:72,200,511...72,248,582 		JBrowse link
G RYK receptor like tyrosine kinase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:75,285,482...75,390,314
Ensembl chr13:75,282,428...75,390,525 		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 chr13:137,175,790...137,250,698
Ensembl chr13:137,170,961...137,250,550 		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 chr13:72,254,462...72,276,484
Ensembl chr13:72,254,464...72,269,914 		JBrowse link
G SEMA5B semaphorin 5B ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr13:137,443,982...137,586,962
Ensembl chr13:137,455,346...137,590,831 		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 chr13:135,105,723...135,249,124
Ensembl chr13:135,105,896...135,249,120 		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 chr13:138,595,942...138,634,473
Ensembl chr13:138,595,958...138,632,675 		JBrowse link
G SLC35G2 solute carrier family 35 member G2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:77,825,191...77,858,537
Ensembl chr13:77,825,178...77,861,774 		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 7:53,672,131...53,741,033
Ensembl chr 7:53,672,130...53,748,727 		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 chr13:137,633,471...137,739,114
Ensembl chr13:137,641,425...137,739,098 		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 chr13:75,108,540...75,189,660
Ensembl chr13:75,106,607...75,190,022 		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 chr13:134,824,028...134,903,765
Ensembl chr13:134,824,043...134,905,359 		JBrowse link
G SRPRB SRP receptor subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:74,976,030...75,010,200
Ensembl chr13:74,975,677...75,010,212 		JBrowse link
G STAG1 STAG1 cohesin complex component ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:77,321,872...77,863,533
Ensembl chr13:77,321,872...77,863,491 		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 chr13:139,116,931...139,491,227
Ensembl chr13:139,123,209...139,445,470 		JBrowse link
G TF transferrin ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:74,930,655...74,970,599
Ensembl chr13:74,930,655...74,972,763 		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 chr13:69,039,173...69,223,806
Ensembl chr13:69,036,428...69,290,098 		JBrowse link
G TMEM108 transmembrane protein 108 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:74,524,122...74,556,327
Ensembl chr13:74,180,198...74,555,928 		JBrowse link
G TOPBP1 DNA topoisomerase II binding protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:74,768,251...74,846,377
Ensembl chr13:74,768,257...74,846,340 		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 chr13:72,661,580...72,666,995
Ensembl chr13:72,655,980...72,666,986 		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 chr13:69,362,892...69,366,183
Ensembl chr13:69,364,093...69,365,493 		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 chr13:73,276,249...73,336,782
Ensembl chr13:73,275,911...73,340,372 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr13:73,831,485...73,859,781
Ensembl chr13:73,822,920...73,868,423 		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 chr13:135,611,857...135,650,656
Ensembl chr13:135,610,058...135,650,603 		JBrowse link
G UROC1 urocanate hydratase 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 7:53,592,763...53,634,214
Ensembl chr 7:53,590,776...53,637,713 		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 chr13:138,109,758...138,113,638
Ensembl chr13:138,109,848...138,113,646 		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 chr13:134,968,774...135,093,828
Ensembl chr13:134,969,729...135,089,151 		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 7:53,640,335...53,672,580
Ensembl chr 7:53,640,266...53,672,579 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15347
    disease of anatomical entity 15038
      immune system disease 4447
        lymphatic system disease 1651
          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 15347
    disease of anatomical entity 15038
      Immune & Inflammatory Diseases 5129
        immune system disease 4447
          lymphatic system disease 1651
            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