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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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



show annotations for term's descendants           Sort by:
lymphedema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO mRNA:increased expression:adipose tissue: RGD PMID:21510802 RGD:12879442 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Dchs1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Lymphedema ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Early onset lymphedema
CTD
ClinVar
PMID:16965327 PMID:25741868 NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
JBrowse link
G Foxc2 forkhead box C2 ISO lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA
lymphedema-distichiasis syndrome,OMIM:153400;DNA:insertion:1006insA
RGD PMID:11371511 PMID:15523639 RGD:1601216, RGD:1601217 NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21892158 NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO DNA:missense mutations:cds:p.S48L, p.M210R (human)
DNA:missense mutations:cds:multiple (human)
RGD PMID:21266381 PMID:20537300 RGD:13208589, RGD:13208590 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Lymphoedema ClinVar PMID:18564920 PMID:24339735 PMID:24728327 PMID:25637381 PMID:25741868 More... NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Pgf placental growth factor ISO associated with Elephantiasis, Filarial;protein:increased expression:plasma RGD PMID:20889885 RGD:6483608 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
JBrowse link
Aagenaes syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Cholestasis-edema syndrome, Norwegian type ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586
JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7
OMIM
CTD
ClinVar
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 More... NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
JBrowse link
G Mdfic MyoD family inhibitor domain containing ISS
ISO
OMIM:617300
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY
MouseDO
ClinVar
PMID:25741868 PMID:35235341 NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161
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 chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877
JBrowse link
Choanal Atresia and Lymphedema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Choanal atresia and lymphedema
OMIM
CTD
ClinVar
PMID:20826270 PMID:25741868 NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088
JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
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
CTD Direct Evidence: marker/mechanism
DNA:mutation:splicing site:
OMIM
ClinVar
CTD
RGD
PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 More... RGD:12791265 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccbe1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19911200 PMID:19935664 More... NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 ClinVar PMID:25741868 NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2 OMIM
ClinVar
PMID:2624276 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 More... NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts3 ADAM metallopeptidase with thrombospondin type 1, motif 3 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28985353 PMID:30450763 NCBI chr14:18,231,128...18,437,771
Ensembl chr14:18,231,165...18,435,556
JBrowse link
Hennekam syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LYMPHATIC DYSPLASIA, GENERALIZED
CTD
ClinVar
PMID:19911200 PMID:19935664 PMID:25741868 PMID:25814692 PMID:28492532 More... NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
JBrowse link
hereditary lymphedema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Hereditary lymphedema ClinVar PMID:25741868 PMID:31215153 NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164
JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISS
ISO
OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907
ClinVar Annotator: match by term: Primary congenital lymphedema
MouseDO
ClinVar
PMID:16965327 PMID:25741868 NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Hereditary lymphedema ClinVar NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
G Vegfc vascular endothelial growth factor C ISS OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907 MouseDO NCBI chr16:37,712,251...37,827,845
Ensembl chr16:37,712,262...37,827,848
JBrowse link
hereditary lymphedema I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Hereditary lymphedema type I ClinVar PMID:25741868 PMID:28492532 PMID:28687708 PMID:30760892 NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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:16924388 PMID:16965327 More... NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
JBrowse link
hereditary lymphedema IA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Hereditary lymphedema type I ClinVar PMID:25741868 PMID:28492532 PMID:28687708 PMID:30760892 NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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:16924388 PMID:16965327 More... NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
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 chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
hereditary lymphedema IC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein, gamma 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lymphedema, hereditary, IC
OMIM
CTD
ClinVar
PMID:20537300 PMID:21266381 PMID:25741868 PMID:28492532 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
JBrowse link
hereditary lymphedema ID term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vegfc vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lymphedema, hereditary, ID
OMIM
CTD
ClinVar
PMID:23410910 PMID:24744435 PMID:25741868 PMID:30071673 NCBI chr16:37,712,251...37,827,845
Ensembl chr16:37,712,262...37,827,848
JBrowse link
hypotrichosis-lymphedema-telangiectasia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox18 SRY-box transcription factor 18 ISO DNA:missense mutations, nonsense mutation: 455G>C (p.A104P), 428T>A (p.W95R), 865C>A (p.C240X) (human)
ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:11701398 PMID:12740761 PMID:24697860 PMID:26148450 PMID:28492532 More... RGD:1599075 NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290
JBrowse link
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox18 SRY-box transcription factor 18 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
OMIM
CTD
ClinVar
PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 More... NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290
JBrowse link
Lymphatic Malformation 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 ISO ClinVar Annotator: match by term: Lymphatic malformation 10 OMIM
ClinVar
PMID:32908006 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 10 ClinVar PMID:32908006 NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
JBrowse link
Lymphatic Malformation 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tie1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 11 OMIM
ClinVar
PMID:32947856 NCBI chr 5:132,000,013...132,019,658
Ensembl chr 5:132,000,015...132,019,592
JBrowse link
Lymphatic Malformation 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mdfic MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: Lymphatic malformation 12 OMIM
ClinVar
PMID:25741868 PMID:35235341 NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161
JBrowse link
Lymphatic Malformation 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 13 OMIM
ClinVar
PMID:25741868 PMID:25741915 PMID:26036949 PMID:28749478 PMID:30055085 More... NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
JBrowse link
Lymphatic Malformation 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erg ETS transcription factor ERG ISO ClinVar Annotator: match by term: Lymphatic malformation 14 OMIM
ClinVar
PMID:36928819 NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871
JBrowse link
lymphatic malformation 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11001917 PMID:17576681 PMID:23479567 PMID:24033266 More... NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
JBrowse link
G Tbx19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: Lymphatic malformation 6 ClinVar PMID:25741868 NCBI chr13:77,450,848...77,484,475
Ensembl chr13:77,450,849...77,504,163
JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calcrl calcitonin receptor like receptor ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar
PMID:25741868 NCBI chr 3:69,428,348...69,525,910
Ensembl chr 3:69,430,120...69,525,910
JBrowse link
Lymphatic Malformation 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: CELSR1-related condition | ClinVar Annotator: match by term: Lymphatic malformation 9 OMIM
ClinVar
PMID:25741868 PMID:26855770 PMID:28492532 PMID:31215153 PMID:31403174 NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164
JBrowse link
lymphedema-distichiasis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Distichiasis-lymphedema syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10417285 PMID:11078474 PMID:11371511 PMID:11499682 PMID:12114478 More... NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
JBrowse link
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus ClinVar PMID:15523639 NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
JBrowse link
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: KIF11-related condition | ClinVar Annotator: match by term: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Microcephaly lymphedema chorioretinal dysplasia | ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:15930898 PMID:16199547 PMID:17576681 PMID:22284827 More... NCBI chr 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766
JBrowse link
Primary Lymphedema with Myelodysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abtb1 ankyrin repeat and BTB domain containing 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:121,299,302...121,305,667
Ensembl chr 4:121,299,304...121,305,620
JBrowse link
G Acad11 acyl-CoA dehydrogenase family, member 11 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:104,681,346...104,746,559
Ensembl chr 8:104,681,396...104,746,560
JBrowse link
G Acad9 acyl-CoA dehydrogenase family, member 9 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547
JBrowse link
G Ackr4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:104,716,537...104,720,972
Ensembl chr 8:104,716,067...104,723,617
JBrowse link
G Acp3 acid phosphatase 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:104,905,570...104,956,146
Ensembl chr 8:104,905,586...104,954,236
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 chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465
JBrowse link
G Amotl2 angiomotin like 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:103,303,368...103,319,161
Ensembl chr 8:103,302,992...103,318,910
JBrowse link
G Anapc13 anaphase promoting complex subunit 13 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:103,205,520...103,213,936
Ensembl chr 8:103,205,520...103,213,936
JBrowse link
G Aste1 asteroid homolog 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:106,026,570...106,044,694
Ensembl chr 8:106,026,515...106,044,430
JBrowse link
G Atp2c1 ATPase secretory pathway Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr 8:106,034,777...106,155,854
Ensembl chr 8:106,034,636...106,156,006
JBrowse link
G Bfsp2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399
JBrowse link
G C4h3orf22 similar to human chromosome 3 open reading frame 22 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 4:122,817,681...122,822,175
Ensembl chr 4:122,817,681...122,822,175
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 chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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 chr11:66,052,063...66,087,915
Ensembl chr11:66,052,620...66,087,956
JBrowse link
G Cd86 CD86 molecule ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Cdv3 carnitine deficiency-associated gene expressed in ventricle 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:103,934,006...103,947,173
Ensembl chr 8:103,933,996...103,947,192
JBrowse link
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177
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 4:122,914,693...122,938,994
Ensembl chr 4:122,914,698...122,938,580
JBrowse link
G Cfap92 cilia and flagella associated protein 92 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:120,126,565...120,181,575
Ensembl chr 4:120,126,567...120,181,546
JBrowse link
G Chchd6 coiled-coil-helix-coiled-coil-helix domain containing 6 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 4:121,803,501...122,024,209
Ensembl chr 4:121,792,717...122,024,216
JBrowse link
G Chst13 carbohydrate sulfotransferase 13 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 4:122,824,022...122,837,940
Ensembl chr 4:122,824,022...122,838,019
JBrowse link
G Cnbp CCHC-type zinc finger, nucleic acid binding protein ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:120,302,768...120,311,694
Ensembl chr 4:120,302,771...120,311,637
JBrowse link
G Col6a5 collagen type VI alpha 5 chain ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr 8:106,483,806...106,584,114
Ensembl chr 8:106,483,799...106,584,113
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 chr 8:106,318,010...106,473,419
Ensembl chr 8:106,306,422...106,473,472
JBrowse link
G Copg1 COPI coat complex subunit gamma 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:120,366,540...120,392,502
Ensembl chr 4:120,366,542...120,415,616
JBrowse link
G Cpne4 copine 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:105,177,376...105,653,075
Ensembl chr 8:105,177,376...105,653,068
JBrowse link
G Csta cystatin A ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488
JBrowse link
G Dnajb8 DnaJ heat shock protein family (Hsp40) member B8 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:2322343 PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 More... NCBI chr 4:120,681,918...120,685,108
Ensembl chr 4:120,681,926...120,687,552
JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317
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 chr11:64,814,926...64,824,539
Ensembl chr11:64,814,926...64,824,538
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 chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610
JBrowse link
G Eefsec eukaryotic elongation factor, selenocysteine-tRNA-specific ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More... NCBI chr 4:120,719,616...120,915,779
Ensembl chr 4:120,707,133...120,915,779
JBrowse link
G Efcab12 EF-hand calcium binding domain 12 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:148,869,381...148,892,922
Ensembl chr 4:148,869,387...148,890,560
JBrowse link
G Efcc1 EF-hand and coiled-coil domain containing 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:120,188,202...120,223,464
Ensembl chr 4:120,188,470...120,217,516
JBrowse link
G Ephb1 Eph receptor B1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:102,507,549...102,944,839
Ensembl chr 8:102,507,549...102,944,839
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 chr11:64,680,978...64,709,865
Ensembl chr11:64,680,323...64,711,239
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 chr11:63,794,452...63,812,697
Ensembl chr11:63,794,624...63,812,697
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 chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677
JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
CTD
ClinVar
OMIM
PMID:453969 PMID:2322343 PMID:2543925 PMID:4508672 PMID:8701948 More... NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
JBrowse link
G Golgb1 golgin B1 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770
JBrowse link
G Gp9 glycoprotein IX (platelet) ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110
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 chr11:63,182,073...63,215,349
Ensembl chr11:63,182,349...63,213,942
JBrowse link
G H1f10 H1.10 linker histone ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:120,440,515...120,441,578
Ensembl chr 4:120,440,870...120,441,448
JBrowse link
G H1f8 H1.8 linker histone ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:148,993,133...148,998,254
Ensembl chr 4:148,993,133...148,998,254
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 chr11:65,667,671...65,762,903
Ensembl chr11:65,670,281...65,762,889
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 chr11:63,817,482...63,840,943
Ensembl chr11:63,817,476...63,841,014
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 chr11:67,006,954...67,095,020
Ensembl chr11:66,957,190...67,095,051
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 chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323
JBrowse link
G Hmces 5-hydroxymethylcytosine binding, ES cell specific ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:120,392,812...120,415,616
Ensembl chr 4:120,366,542...120,415,616
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 chr11:64,940,089...64,994,753
Ensembl chr11:64,940,091...64,994,756
JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
JBrowse link
G Il20rb interleukin 20 receptor subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:100,979,085...101,010,829
Ensembl chr 8:100,980,383...101,009,942
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 chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760
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 chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
JBrowse link
G Isy1 ISY1 splicing factor homolog ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:120,276,535...120,297,227
Ensembl chr 4:120,276,292...120,297,188
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 chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472
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 chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610
JBrowse link
G Kbtbd12 kelch repeat and BTB domain containing 12 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:121,014,636...121,088,701
Ensembl chr 4:121,016,257...121,088,443
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 4:122,965,718...122,978,403
Ensembl chr 4:122,965,807...122,978,374
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 chr11:64,715,844...64,774,647
Ensembl chr11:64,717,563...64,774,623
JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:103,086,959...103,126,305
Ensembl chr 8:103,086,630...103,126,024
JBrowse link
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
JBrowse link
G Mcm2 minichromosome maintenance complex component 2 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:121,346,434...121,360,962
Ensembl chr 4:121,346,434...121,360,847
JBrowse link
G Mgll monoglyceride lipase ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:121,192,186...121,294,187
Ensembl chr 4:121,192,195...121,294,179
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 chr11:64,660,711...64,681,000
Ensembl chr11:64,660,711...64,681,000
JBrowse link
G Mrpl3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:105,670,184...105,693,544
Ensembl chr 8:105,670,184...105,693,544
JBrowse link
G Msl2 MSL complex subunit 2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:101,676,605...101,702,818
Ensembl chr 8:101,676,765...101,763,833
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 chr11:66,957,208...66,980,264
Ensembl chr11:66,960,595...66,984,727
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 chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
JBrowse link
G Nck1 NCK adaptor protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300
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 chr11:63,063,723...63,070,426
Ensembl chr11:63,063,795...63,070,425
JBrowse link
G Nek11 NIMA-related kinase 11 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:105,767,230...106,026,676
Ensembl chr 8:105,770,548...106,026,676
JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
JBrowse link
G Nudt16 nudix hydrolase 16 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:105,739,927...105,741,982
Ensembl chr 8:105,739,623...105,741,998
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 chr11:67,533,669...67,616,795
Ensembl chr11:67,533,672...67,596,444
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 chr11:64,902,848...64,934,916
Ensembl chr11:64,902,785...64,934,916
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 chr11:64,780,977...64,814,995
Ensembl chr11:64,780,981...64,815,455
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
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 chr11:65,272,152...65,359,087
Ensembl chr11:65,272,155...65,359,084
JBrowse link
G Pik3r4 phosphoinositide-3-kinase, regulatory subunit 4 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr 8:106,267,908...106,316,585
Ensembl chr 8:106,267,954...106,316,584
JBrowse link
G Plxna1 plexin A1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:121,737,934...121,782,901
Ensembl chr 4:121,737,945...122,024,196
JBrowse link
G Plxnd1 plexin D1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244
JBrowse link
G Podxl2 podocalyxin-like 2 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:121,306,224...121,338,070
Ensembl chr 4:121,306,224...121,338,112
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 chr11:63,673,796...63,775,905
Ensembl chr11:63,673,816...63,775,878
JBrowse link
G Ppp2r3a protein phosphatase 2, regulatory subunit B'', alpha ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:101,703,512...101,841,530
Ensembl chr 8:101,704,778...101,841,502
JBrowse link
G Rab43 RAB43, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:120,249,650...120,269,174
Ensembl chr 4:120,249,879...120,269,174
JBrowse link
G Rab6b RAB6B, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:103,695,328...103,764,023
Ensembl chr 8:103,695,631...103,805,732
JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chr 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889
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 chr11:63,153,281...63,182,240
Ensembl chr11:63,152,792...63,182,671
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
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 chr11:66,097,854...66,127,148
Ensembl chr11:66,097,856...66,127,148
JBrowse link
G Rpn1 ribophorin I ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chr 4:120,543,667...120,565,069
Ensembl chr 4:120,543,667...120,565,069
JBrowse link
G Ruvbl1 RuvB-like AAA ATPase 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More... NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384
JBrowse link
G Ryk receptor-like tyrosine kinase ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:103,419,338...103,492,083
Ensembl chr 8:103,419,275...103,491,698
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 chr11:65,402,583...65,462,329
Ensembl chr11:65,402,684...65,462,319
JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More... NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
JBrowse link
G Sema5b semaphorin 5B ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr11:65,102,532...65,225,456
Ensembl chr11:65,102,031...65,225,311
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 chr11:67,116,876...67,266,548
Ensembl chr11:67,116,877...67,266,834
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 chr11:64,014,182...64,043,228
Ensembl chr11:64,014,182...64,043,225
JBrowse link
G Slc35g2 solute carrier family 35, member G2 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:101,085,579...101,113,339
Ensembl chr 8:101,085,545...101,113,349
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 4:123,109,555...123,154,766
Ensembl chr 4:123,112,748...123,154,766
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 chr11:64,995,629...65,068,929
Ensembl chr11:64,995,679...65,068,926
JBrowse link
G Slco2a1 solute carrier organic anion transporter family, member 2a1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:103,588,916...103,672,546
Ensembl chr 8:103,588,916...103,672,546
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 chr11:67,460,872...67,518,143
Ensembl chr11:67,460,870...67,518,174
JBrowse link
G Srprb SRP receptor subunit beta ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:103,768,685...103,782,632 JBrowse link
G Stag1 STAG1 cohesin complex component ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:101,179,039...101,564,684
Ensembl chr 8:101,179,039...101,564,677
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 chr11:63,334,667...63,654,270
Ensembl chr11:63,334,667...63,657,014
JBrowse link
G Tf transferrin ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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 chr 4:149,069,252...149,239,585
Ensembl chr 4:149,069,260...149,239,620
JBrowse link
G Tmem108 transmembrane protein 108 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:104,066,081...104,360,172
Ensembl chr 8:104,066,078...104,360,094
JBrowse link
G Topbp1 DNA topoisomerase II binding protein 1 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674
JBrowse link
G Tpra1 transmembrane protein adipocyte associated 1 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:121,364,093...121,375,275
Ensembl chr 4:121,364,091...121,375,269
JBrowse link
G Trh thyrotropin releasing hormone ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
JBrowse link
G Txnrd3 thioredoxin reductase 3 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 4:122,072,548...122,112,493
Ensembl chr 4:122,072,548...122,112,491
JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 8:104,665,241...104,680,915
Ensembl chr 8:104,665,046...104,680,894
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 chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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 4:122,844,933...122,876,584
Ensembl chr 4:122,844,926...122,876,591
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 chr11:64,710,945...64,712,804
Ensembl chr11:64,710,355...64,712,807
JBrowse link
G Zfp148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
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 4:122,882,389...122,914,486
Ensembl chr 4:122,882,336...122,916,496
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      immune system disease 4771
        lymphatic system disease 1667
          lymphedema 152
            Aagenaes syndrome 1
            Breast Cancer Lymphedema + 0
            Choanal Atresia and Lymphedema 1
            Dahlberg Borer Newcomer Syndrome 0
            German Syndrome 0
            Hennekam syndrome + 3
            Irons Bhan Syndrome 0
            Lymphedema and Cerebral Arteriovenous Anomaly 0
            Lymphedema, Cardiac Septal Defects, and Characteristic Facies 0
            Non-Filarial Lymphedema 0
            Primary Lymphedema with Myelodysplasia 121
            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 21128
    disease of anatomical entity 18212
      Immune & Inflammatory Diseases 5564
        immune system disease 4771
          lymphatic system disease 1667
            lymphedema 152
              Aagenaes syndrome 1
              Breast Cancer Lymphedema + 0
              Choanal Atresia and Lymphedema 1
              Dahlberg Borer Newcomer Syndrome 0
              German Syndrome 0
              Hennekam syndrome + 3
              Irons Bhan Syndrome 0
              Lymphedema and Cerebral Arteriovenous Anomaly 0
              Lymphedema, Cardiac Septal Defects, and Characteristic Facies 0
              Non-Filarial Lymphedema 0
              Primary Lymphedema with Myelodysplasia 121
              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