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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 IEP mRNA:increased expression:adipose tissue: RGD PMID:21510802 RGD:12879442 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP ClinVar Annotator: match by term: Lymphedema ClinVar PMID:25741868 PMID:28492532 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Early onset lymphedema		 CTD
ClinVar		 PMID:16965327 PMID:25741868 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G FOXC2 forkhead box C2 IAGP lymphedema-distichiasis syndrome,OMIM:153400;DNA:insertion:1006insA
lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA		 RGD PMID:15523639 PMID:11371511 RGD:1601217, RGD:1601216 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728 		JBrowse link
G GATA2 GATA binding protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21892158 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201 		JBrowse link
G GJC2 gap junction protein gamma 2 IAGP 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 chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Lymphedema
ClinVar Annotator: match by term: Lymphoedema		 ClinVar PMID:18564920 PMID:24339735 PMID:24728327 PMID:25637381 PMID:25741868 More... NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G PGF placental growth factor IEP associated with Elephantiasis, Filarial;protein:increased expression:plasma RGD PMID:20889885 RGD:6483608 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626 		JBrowse link
Aagenaes syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130057954 ATAC-STARR-seq lymphoblastoid silent region 6833 IAGP ClinVar Annotator: match by term: Cholestasis-edema syndrome, Norwegian type ClinVar PMID:25741868 NCBI chr15:90,935,101...90,935,500 JBrowse link
G UNC45A unc-45 myosin chaperone A IAGP ClinVar Annotator: match by term: Cholestasis-edema syndrome, Norwegian type ClinVar PMID:25741868 PMID:28492532 NCBI chr15:90,930,180...90,954,093
Ensembl chr15:90,930,180...90,954,093 		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 IAGP ClinVar Annotator: match by term: Lymphatic malformation 7
ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Lymphatic malformation 7
ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to		 ClinVar
OMIM		 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29444212 More... NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G LOC126860124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:100403701-100404900 IAGP ClinVar Annotator: match by term: Lymphatic malformation 7
ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum		 ClinVar PMID:25741868 PMID:27400125 PMID:28687708 PMID:29444212 PMID:29905864 More... NCBI chr 7:100,805,443...100,807,278 JBrowse link
G MDFIC MyoD family inhibitor domain containing ISS
IAGP		 OMIM:617300
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY		 MouseDO
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 7:114,922,094...115,019,917
Ensembl chr 7:114,922,094...115,019,917 		JBrowse link
G SLC12A9 solute carrier family 12 member 9 IAGP ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:100,826,869...100,867,012
Ensembl chr 7:100,826,820...100,867,010 		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 IAGP ClinVar Annotator: match by term: Choanal atresia and lymphedema ClinVar
OMIM		 PMID:20826270 PMID:25741868 NCBI chr 1:214,348,700...214,551,602
Ensembl chr 1:214,348,700...214,552,449 		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 IAGP ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP
EXP		 DNA:mutation:splicing site:
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia		 ClinVar
CTD
OMIM
RGD		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G LOC108281126 G6PD and IKBKG intron CAGE-defined low expression enhancer IAGP ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:154,541,534...154,543,269 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 IAGP ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19911200 PMID:19935664 More... NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 ClinVar PMID:25741868 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		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 IAGP ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2 OMIM
ClinVar		 PMID:2624276 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 More... NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		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 IAGP ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28985353 PMID:30450763 NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221 		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 EXP
IAGP		 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 chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G FAT4 FAT atypical cadherin 4 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
hereditary lymphedema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLT4 fms related receptor tyrosine kinase 4 ISS
IAGP		 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 chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G VEGFC vascular endothelial growth factor C ISS OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907 MouseDO NCBI chr 4:176,683,538...176,792,922
Ensembl chr 4:176,683,538...176,792,922 		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 IAGP ClinVar Annotator: match by term: Hereditary lymphedema type I ClinVar PMID:25741868 PMID:28492532 PMID:28687708 PMID:30760892 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 IAGP ClinVar Annotator: match by term: Hereditary lymphedema type I ClinVar PMID:9817924 PMID:10835628 PMID:10856194 PMID:15904433 PMID:16924388 More... NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G LOC126807632 CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:180046831-180048030 IAGP ClinVar Annotator: match by term: Hereditary lymphedema type I ClinVar PMID:25741868 NCBI chr 5:180,619,831...180,621,030 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 IAGP ClinVar Annotator: match by term: Hereditary lymphedema type I ClinVar PMID:25741868 PMID:28492532 PMID:28687708 PMID:30760892 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 IAGP ClinVar Annotator: match by term: Hereditary lymphedema type I OMIM
ClinVar		 PMID:9817924 PMID:10835628 PMID:10856194 PMID:15904433 PMID:16924388 More... NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP ClinVar Annotator: match by term: Edema of the dorsum of feet ClinVar PMID:25741868 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G LOC126807632 CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:180046831-180048030 IAGP ClinVar Annotator: match by term: Hereditary lymphedema type I ClinVar PMID:25741868 NCBI chr 5:180,619,831...180,621,030 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 IAGP ClinVar Annotator: match by term: Lymphedema, hereditary, IC ClinVar
OMIM		 PMID:20537300 PMID:21266381 PMID:25741868 PMID:28492532 PMID:29451896 More... NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826 		JBrowse link
hereditary lymphedema ID term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAFML HuR (ELAVL1) associated fibroblast migratory lncRNA IAGP ClinVar Annotator: match by term: Lymphedema, hereditary, ID ClinVar PMID:25741868 PMID:30071673 NCBI chr 4:176,654,184...176,706,143 JBrowse link
G VEGFC vascular endothelial growth factor C IAGP ClinVar Annotator: match by term: Lymphedema, hereditary, ID ClinVar
OMIM		 PMID:23410910 PMID:24744435 PMID:25741868 PMID:30071673 NCBI chr 4:176,683,538...176,792,922
Ensembl chr 4:176,683,538...176,792,922 		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 IAGP
EXP		 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 chr20:64,047,582...64,049,639
Ensembl chr20:64,047,582...64,049,639 		JBrowse link
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130066420 ATAC-STARR-seq lymphoblastoid silent region 13204 IAGP ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ClinVar PMID:25741868 NCBI chr20:64,049,329...64,049,378 JBrowse link
G SOX18 SRY-box transcription factor 18 IAGP ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ClinVar
OMIM		 PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 More... NCBI chr20:64,047,582...64,049,639
Ensembl chr20:64,047,582...64,049,639 		JBrowse link
Lymphatic Malformation 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPT2 angiopoietin 2 IAGP ClinVar Annotator: match by term: Lymphatic malformation 10 OMIM
ClinVar		 PMID:32908006 NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409 		JBrowse link
G LOC123987613 Sharpr-MPRA regulatory region 12768 IAGP ClinVar Annotator: match by term: Lymphatic malformation 10 ClinVar PMID:32908006 NCBI chr 8:6,560,908...6,561,202 JBrowse link
G LOC126860291 BRD4-independent group 4 enhancer GRCh37_chr8:6385720-6386919 IAGP ClinVar Annotator: match by term: Lymphatic malformation 10 ClinVar PMID:32908006 NCBI chr 8:6,528,199...6,529,398 JBrowse link
G MCPH1 microcephalin 1 IAGP ClinVar Annotator: match by term: Lymphatic malformation 10 ClinVar PMID:32908006 NCBI chr 8:6,406,627...6,648,508
Ensembl chr 8:6,406,592...6,648,508 		JBrowse link
Lymphatic Malformation 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126805720 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:43786614-43787813 IAGP ClinVar Annotator: match by term: Lymphatic malformation 11 ClinVar PMID:32947856 NCBI chr 1:43,320,943...43,322,142 JBrowse link
G TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 IAGP ClinVar Annotator: match by term: Lymphatic malformation 11 OMIM
ClinVar		 PMID:32947856 NCBI chr 1:43,300,982...43,323,108
Ensembl chr 1:43,300,982...43,323,108 		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 IAGP ClinVar Annotator: match by term: Lymphatic malformation 12 OMIM
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 7:114,922,094...115,019,917
Ensembl chr 7:114,922,094...115,019,917 		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 IAGP ClinVar Annotator: match by term: Lymphatic malformation 13 OMIM
ClinVar		 PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873 NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373 		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 IAGP ClinVar Annotator: match by term: Lymphatic malformation 14 OMIM
ClinVar		 PMID:36928819 NCBI chr21:38,367,261...38,661,783
Ensembl chr21:38,380,027...38,661,780 		JBrowse link
lymphatic malformation 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSALR1 HSP90AB1 associated lncRNA 1 IAGP ClinVar Annotator: match by term: PIEZO1-related condition
ClinVar Annotator: match by term: Lymphatic malformation 6 | ClinVar Annotator: match by term: Lymphedema, hereditary, III | ClinVar Annotator: match by term: PIEZO1-related condition
ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 6 | ClinVar Annotator: match by term: Lymphatic malformation 6		 ClinVar PMID:9536098 PMID:11001917 PMID:17576681 PMID:23479567 PMID:24033266 More... NCBI chr16:88,731,180...88,741,425 JBrowse link
G LOC130059751 ATAC-STARR-seq lymphoblastoid silent region 7872 IAGP 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 PMID:25741868 PMID:28492532 NCBI chr16:88,737,356...88,737,575 JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP ClinVar Annotator: match by term: Diffuse lymphatic malformation | ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 6 | ClinVar Annotator: match by term: Lymphatic malformation 6 | ClinVar Annotator: match by term: Lymphedema, hereditary, III | ClinVar Annotator: match by term: PIEZO1-related condition OMIM
ClinVar		 PMID:9536098 PMID:11001917 PMID:17576681 PMID:23479567 PMID:24033266 More... NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G TBX19 T-box transcription factor 19 IAGP ClinVar Annotator: match by term: Lymphedema, hereditary, III ClinVar PMID:25741868 NCBI chr 1:168,280,877...168,314,426
Ensembl chr 1:168,280,877...168,314,426 		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 IAGP ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar		 PMID:25741868 NCBI chr 2:187,341,964...187,448,252
Ensembl chr 2:187,341,964...187,448,460 		JBrowse link
G CALCRL-AS1 CALCRL and TFPI antisense RNA 1 IAGP ClinVar Annotator: match by term: Lymphatic malformation 8 ClinVar PMID:25741868 NCBI chr 2:187,003,273...187,547,525
Ensembl chr 2:187,003,220...187,556,288 		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 IAGP ClinVar Annotator: match by term: Lymphatic malformation 9
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 chr22:46,361,174...46,537,620
Ensembl chr22:46,360,834...46,537,620 		JBrowse link
G LOC121627952 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:46772879-46774078 IAGP ClinVar Annotator: match by term: CELSR1-related condition | ClinVar Annotator: match by term: Lymphatic malformation 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr22:46,376,982...46,378,181 JBrowse link
G LOC126863169 BRD4-independent group 4 enhancer GRCh37_chr22:46782038-46783237 IAGP ClinVar Annotator: match by term: Lymphatic malformation 9 ClinVar PMID:25741868 PMID:31215153 NCBI chr22:46,386,141...46,387,340 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 IAGP
EXP		 ClinVar Annotator: match by term: Distichiasis-lymphedema syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:10417285 PMID:11078474 PMID:11371511 PMID:11499682 PMID:12114478 More... NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728 		JBrowse link
G FOXC2-AS1 FOXC2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Distichiasis-lymphedema syndrome ClinVar PMID:10417285 PMID:11078474 PMID:11499682 PMID:12114478 PMID:16081467 More... NCBI chr16:86,565,145...86,567,761
Ensembl chr16:86,565,145...86,567,847 		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 IAGP ClinVar Annotator: match by term: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus ClinVar PMID:15523639 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728 		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 IAGP ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
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
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 with or without chorioretinopathy, lymphedema, or mental retardation
ClinVar Annotator: match by term: KIF11-related condition | ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation		 ClinVar
OMIM		 PMID:9536098 PMID:15930898 PMID:16199547 PMID:17576681 PMID:22284827 More... NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395 		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 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:127,672,952...127,680,926
Ensembl chr 3:127,672,935...127,680,926 		JBrowse link
G ACAD11 acyl-CoA dehydrogenase family member 11 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:132,558,141...132,659,809
Ensembl chr 3:132,558,138...132,660,082 		JBrowse link
G ACAD9 acyl-CoA dehydrogenase family member 9 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar Annotator: match by term: Emberger syndrome		 ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003 		JBrowse link
G ACKR4 atypical chemokine receptor 4 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:132,597,270...132,602,644
Ensembl chr 3:132,597,270...132,618,967 		JBrowse link
G ACP3 acid phosphatase 3 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:132,317,407...132,368,302
Ensembl chr 3:132,317,369...132,368,302 		JBrowse link
G ADCY5 adenylate cyclase 5 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090 		JBrowse link
G ALDH1L1 aldehyde dehydrogenase 1 family member L1 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:126,103,570...126,197,945
Ensembl chr 3:126,103,562...126,197,994 		JBrowse link
G ALG1L2 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr 3:130,081,831...130,098,390
Ensembl chr 3:130,081,831...130,113,227 		JBrowse link
G AMOTL2 angiomotin like 2 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:134,355,345...134,375,417
Ensembl chr 3:134,355,347...134,375,479 		JBrowse link
G ANAPC13 anaphase promoting complex subunit 13 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:134,477,704...134,486,023
Ensembl chr 3:134,477,706...134,486,716 		JBrowse link
G ARGFX arginine-fifty homeobox IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:121,567,949...121,590,622
Ensembl chr 3:121,567,949...121,590,622 		JBrowse link
G ASTE1 asteroid homolog 1 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:131,013,875...131,026,825
Ensembl chr 3:131,013,875...131,027,649 		JBrowse link
G ATP2C1 ATPase secretory pathway Ca2+ transporting 1 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr 3:130,850,595...131,016,712
Ensembl chr 3:130,850,595...131,016,712 		JBrowse link
G BFSP2 beaded filament structural protein 2 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:133,400,056...133,475,208
Ensembl chr 3:133,400,056...133,475,222 		JBrowse link
G C3orf22 chromosome 3 open reading frame 22 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:126,526,999...126,558,932
Ensembl chr 3:126,526,999...126,558,965 		JBrowse link
G C3orf36 chromosome 3 putative open reading frame 36 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:133,928,145...133,929,812
Ensembl chr 3:133,928,145...133,929,812 		JBrowse link
G CASR calcium sensing receptor IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CCDC14 coiled-coil domain containing 14 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:123,885,176...123,961,229
Ensembl chr 3:123,897,305...123,961,408 		JBrowse link
G CD86 CD86 molecule IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139 		JBrowse link
G CDV3 CDV3 homolog IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:133,573,686...133,590,274
Ensembl chr 3:133,573,686...133,590,261 		JBrowse link
G CEP63 centrosomal protein 63 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:134,485,724...134,782,559
Ensembl chr 3:134,485,699...134,587,789 		JBrowse link
G CFAP100 cilia and flagella associated protein 100 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:126,394,909...126,436,556
Ensembl chr 3:126,394,909...126,436,556 		JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:128,909,873...129,026,748
Ensembl chr 3:128,909,866...129,002,690 		JBrowse link
G CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:126,704,240...126,960,420
Ensembl chr 3:126,704,240...126,960,420 		JBrowse link
G CHST13 carbohydrate sulfotransferase 13 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:126,524,155...126,543,291
Ensembl chr 3:126,524,155...126,543,291 		JBrowse link
G CNBP CCHC-type zinc finger nucleic acid binding protein IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:129,167,827...129,183,896
Ensembl chr 3:129,167,827...129,183,922 		JBrowse link
G COL6A5 collagen type VI alpha 5 chain IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr 3:130,345,672...130,484,846
Ensembl chr 3:130,345,516...130,484,846 		JBrowse link
G COL6A6 collagen type VI alpha 6 chain IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr 3:130,516,720...130,677,042
Ensembl chr 3:130,517,177...130,677,044 		JBrowse link
G COPG1 COPI coat complex subunit gamma 1 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:129,249,606...129,277,773
Ensembl chr 3:129,249,606...129,277,773 		JBrowse link
G CPNE4 copine 4 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:131,533,569...132,039,606
Ensembl chr 3:131,533,555...132,285,410 		JBrowse link
G CSTA cystatin A IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:122,325,248...122,341,969
Ensembl chr 3:122,325,248...122,341,969 		JBrowse link
G DNAJB8 DnaJ heat shock protein family (Hsp40) member B8 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:2322343 PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 More... NCBI chr 3:128,462,437...128,466,890
Ensembl chr 3:128,462,437...128,466,968 		JBrowse link
G DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:132,417,502...132,539,032
Ensembl chr 3:132,417,502...132,539,032 		JBrowse link
G DTX3L deltex E3 ubiquitin ligase 3L IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:122,564,338...122,575,203
Ensembl chr 3:122,564,338...122,575,203 		JBrowse link
G EAF2 ELL associated factor 2 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:121,835,209...121,886,526
Ensembl chr 3:121,835,183...121,886,526 		JBrowse link
G EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More... NCBI chr 3:128,153,481...128,426,223
Ensembl chr 3:128,153,481...128,408,646 		JBrowse link
G EFCAB12 EF-hand calcium binding domain 12 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:129,401,321...129,428,636
Ensembl chr 3:129,401,321...129,428,636 		JBrowse link
G EFCC1 EF-hand and coiled-coil domain containing 1 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:129,001,304...129,040,742
Ensembl chr 3:129,001,304...129,040,742 		JBrowse link
G EPHB1 EPH receptor B1 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:134,795,260...135,260,467
Ensembl chr 3:134,795,260...135,260,467 		JBrowse link
G FAM162A family with sequence similarity 162 member A IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:122,384,182...122,412,334
Ensembl chr 3:122,384,161...122,412,334 		JBrowse link
G FBXO40 F-box protein 40 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:121,593,379...121,630,295
Ensembl chr 3:121,593,379...121,630,295 		JBrowse link
G FSTL1 follistatin like 1 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:120,392,293...120,450,992
Ensembl chr 3:120,392,293...120,451,016 		JBrowse link
G GATA2 GATA binding protein 2 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar
OMIM		 PMID:453969 PMID:2322343 PMID:2543925 PMID:4508672 PMID:8701948 More... NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201 		JBrowse link
G GATA2-AS1 GATA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:25741868 NCBI chr 3:128,489,203...128,503,207
Ensembl chr 3:128,489,212...128,502,970 		JBrowse link
G GOLGB1 golgin B1 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:121,663,201...121,749,966
Ensembl chr 3:121,663,199...121,749,966 		JBrowse link
G GP9 glycoprotein IX platelet IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406 		JBrowse link
G GTF2E1 general transcription factor IIE subunit 1 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:120,742,744...120,783,069
Ensembl chr 3:120,742,637...120,783,069 		JBrowse link
G H1-10 H1.10 linker histone IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:129,314,771...129,316,286
Ensembl chr 3:129,314,771...129,316,286 		JBrowse link
G H1-8 H1.8 linker histone IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:129,543,175...129,551,467
Ensembl chr 3:129,543,175...129,551,467 		JBrowse link
G HACD2 3-hydroxyacyl-CoA dehydratase 2 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:123,491,554...123,585,053
Ensembl chr 3:123,490,820...123,585,053 		JBrowse link
G HCLS1 hematopoietic cell-specific Lyn substrate 1 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:121,631,399...121,660,903
Ensembl chr 3:121,631,399...121,660,927 		JBrowse link
G HEG1 heart development protein with EGF like domains 1 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:124,965,710...125,055,997
Ensembl chr 3:124,965,710...125,055,997 		JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
G HMCES 5-hydroxymethylcytosine binding, ES cell specific IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:129,278,832...129,306,186
Ensembl chr 3:129,278,828...129,306,186 		JBrowse link
G HSPBAP1 HSPB1 associated protein 1 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:122,739,999...122,793,831
Ensembl chr 3:122,739,999...122,793,831 		JBrowse link
G IFT122 intraflagellar transport 122 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510 		JBrowse link
G IL20RB interleukin 20 receptor subunit beta IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:136,957,983...137,011,085
Ensembl chr 3:136,946,230...137,011,085 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247 		JBrowse link
G IQCB1 IQ motif containing B1 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079 		JBrowse link
G ISY1 ISY1 splicing factor homolog IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:129,127,415...129,161,063
Ensembl chr 3:129,127,415...129,161,063 		JBrowse link
G ISY1-RAB43 ISY1-RAB43 readthrough IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:129,087,572...129,161,063
Ensembl chr 3:129,087,575...129,161,036 		JBrowse link
G ITGB5 integrin subunit beta 5 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:124,761,948...124,901,418
Ensembl chr 3:124,761,948...124,901,418 		JBrowse link
G KALRN kalirin RhoGEF kinase IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:124,033,369...124,726,325
Ensembl chr 3:124,033,369...124,726,325 		JBrowse link
G KBTBD12 kelch repeat and BTB domain containing 12 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:127,915,232...127,987,677
Ensembl chr 3:127,915,232...127,987,671 		JBrowse link
G KLF15 KLF transcription factor 15 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:126,288,125...126,357,408
Ensembl chr 3:126,342,635...126,357,408 		JBrowse link
G KPNA1 karyopherin subunit alpha 1 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:122,421,902...122,514,939
Ensembl chr 3:122,421,902...122,514,945 		JBrowse link
G KY kyphoscoliosis peptidase IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636 		JBrowse link
G LINC01565 long intergenic non-protein coding RNA 1565 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar Annotator: match by term: Emberger syndrome		 ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chr 3:128,572,000...128,576,086
Ensembl chr 3:128,572,000...128,576,086 		JBrowse link
G LOC117038771 CRISPRi-FlowFISH-validated H1-10 regulatory element 2 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:20040766 PMID:21670465 PMID:22147895 PMID:22996659 PMID:23502222 More... NCBI chr 3:128,487,132...128,489,517 JBrowse link
G LOC129937517 ATAC-STARR-seq lymphoblastoid silent region 14707 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar NCBI chr 3:128,492,911...128,493,000 JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,179 		JBrowse link
G MCM2 minichromosome maintenance complex component 2 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:127,598,411...127,622,436
Ensembl chr 3:127,598,223...127,622,436 		JBrowse link
G MGLL monoglyceride lipase IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:127,689,066...127,823,185
Ensembl chr 3:127,689,062...128,052,190 		JBrowse link
G MIX23 mitochondrial matrix import factor 23 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:122,359,591...122,383,231
Ensembl chr 3:122,359,591...122,383,231 		JBrowse link
G MRPL3 mitochondrial ribosomal protein L3 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:131,462,212...131,502,971
Ensembl chr 3:131,462,212...131,502,983 		JBrowse link
G MSL2 MSL complex subunit 2 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:136,148,917...136,196,335
Ensembl chr 3:136,148,917...136,197,241 		JBrowse link
G MUC13 mucin 13, cell surface associated IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:124,905,442...124,934,751
Ensembl chr 3:124,905,442...124,953,819 		JBrowse link
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G NCK1 NCK adaptor protein 1 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:136,862,208...136,951,606
Ensembl chr 3:136,862,208...136,951,606 		JBrowse link
G NDUFB4 NADH:ubiquinone oxidoreductase subunit B4 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:120,596,336...120,602,507
Ensembl chr 3:120,596,328...120,602,507 		JBrowse link
G NEK11 NIMA related kinase 11 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:131,026,877...131,350,465
Ensembl chr 3:131,026,850...131,350,465 		JBrowse link
G NPHP3 nephrocystin 3 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NUDT16 nudix hydrolase 16 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:131,381,671...131,388,830
Ensembl chr 3:131,381,671...131,388,830 		JBrowse link
G OSBPL11 oxysterol binding protein like 11 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:125,528,858...125,595,497
Ensembl chr 3:125,528,858...125,595,497 		JBrowse link
G PARP14 poly(ADP-ribose) polymerase family member 14 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:122,680,839...122,730,840
Ensembl chr 3:122,680,839...122,730,840 		JBrowse link
G PARP15 poly(ADP-ribose) polymerase family member 15 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:122,577,650...122,639,047
Ensembl chr 3:122,577,628...122,639,047 		JBrowse link
G PARP9 poly(ADP-ribose) polymerase family member 9 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:122,527,924...122,564,784
Ensembl chr 3:122,527,924...122,564,577 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896 		JBrowse link
G PDIA5 protein disulfide isomerase family A member 5 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:123,067,025...123,162,104
Ensembl chr 3:123,067,025...123,225,227 		JBrowse link
G PIK3R4 phosphoinositide-3-kinase regulatory subunit 4 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 PMID:28492532 NCBI chr 3:130,678,934...130,746,829
Ensembl chr 3:130,678,934...130,746,829 		JBrowse link
G PLXNA1 plexin A1 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:126,983,115...127,037,389
Ensembl chr 3:126,982,693...127,037,389 		JBrowse link
G PLXND1 plexin D1 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676 		JBrowse link
G PODXL2 podocalyxin like 2 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:127,629,185...127,672,802
Ensembl chr 3:127,629,185...127,672,802 		JBrowse link
G POLQ DNA polymerase theta IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:121,431,431...121,545,988
Ensembl chr 3:121,431,431...121,545,988 		JBrowse link
G PPP2R3A protein phosphatase 2 regulatory subunit B''alpha IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:135,965,728...136,147,894
Ensembl chr 3:135,965,728...136,147,894 		JBrowse link
G PRR23E PRR23 family member E IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:127,193,131...127,198,185
Ensembl chr 3:127,193,131...127,198,185 		JBrowse link
G RAB43 RAB43, member RAS oncogene family IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:129,087,569...129,122,150
Ensembl chr 3:129,087,569...129,122,801 		JBrowse link
G RAB6B RAB6B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:133,824,235...133,895,882
Ensembl chr 3:133,824,235...133,895,882 		JBrowse link
G RAB7A RAB7A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar Annotator: match by term: Emberger syndrome		 ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chr 3:128,726,183...128,814,798
Ensembl chr 3:128,693,669...128,825,942 		JBrowse link
G RABL3 RAB, member of RAS oncogene family like 3 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:120,684,938...120,742,680
Ensembl chr 3:120,684,938...120,742,993 		JBrowse link
G RHO rhodopsin IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344 		JBrowse link
G ROPN1 rhophilin associated tail protein 1 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:123,969,015...123,992,124
Ensembl chr 3:123,968,521...123,992,178 		JBrowse link
G ROPN1B rhophilin associated tail protein 1B IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:125,969,178...125,983,454
Ensembl chr 3:125,969,160...125,983,454 		JBrowse link
G RPN1 ribophorin I IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar Annotator: match by term: Emberger syndrome		 ClinVar PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 More... NCBI chr 3:128,619,969...128,650,818
Ensembl chr 3:128,619,969...128,681,075 		JBrowse link
G RUVBL1 RuvB like AAA ATPase 1 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More... NCBI chr 3:128,064,785...128,153,914
Ensembl chr 3:128,064,778...128,153,914 		JBrowse link
G RYK receptor like tyrosine kinase IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:134,157,133...134,250,859
Ensembl chr 3:134,065,303...134,250,859 		JBrowse link
G SEC22A SEC22 homolog A, vesicle trafficking protein IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:123,201,943...123,274,136
Ensembl chr 3:123,201,927...123,274,136 		JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 More... NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705 		JBrowse link
G SEMA5B semaphorin 5B IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:122,909,082...123,028,605
Ensembl chr 3:122,909,082...123,028,605 		JBrowse link
G SLC12A8 solute carrier family 12 member 8 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:125,082,644...125,212,748
Ensembl chr 3:125,082,636...125,212,864 		JBrowse link
G SLC15A2 solute carrier family 15 member 2 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:121,894,401...121,944,188
Ensembl chr 3:121,894,401...121,944,188 		JBrowse link
G SLC35G2 solute carrier family 35 member G2 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:136,819,126...136,855,888
Ensembl chr 3:136,818,647...136,855,888 		JBrowse link
G SLC41A3 solute carrier family 41 member 3 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:126,006,357...126,101,520
Ensembl chr 3:126,006,357...126,101,561 		JBrowse link
G SLC49A4 solute carrier family 49 member 4 IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:122,795,069...122,881,139
Ensembl chr 3:122,795,069...122,881,139 		JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184 		JBrowse link
G SNX4 sorting nexin 4 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:125,446,650...125,520,202
Ensembl chr 3:125,446,650...125,520,202 		JBrowse link
G SRPRB SRP receptor subunit beta IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:133,784,023...133,828,574
Ensembl chr 3:133,784,023...133,825,772 		JBrowse link
G STAG1 STAG1 cohesin complex component IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:136,336,236...136,752,378
Ensembl chr 3:136,336,236...136,752,403 		JBrowse link
G STXBP5L syntaxin binding protein 5L IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:120,908,205...121,424,761
Ensembl chr 3:120,908,072...121,424,761 		JBrowse link
G TF transferrin IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641 		JBrowse link
G TMCC1 transmembrane and coiled-coil domain family 1 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:129,647,792...129,893,711
Ensembl chr 3:129,647,792...129,893,711 		JBrowse link
G TMEM108 transmembrane protein 108 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:133,038,391...133,397,775
Ensembl chr 3:133,038,391...133,397,775 		JBrowse link
G TOPBP1 DNA topoisomerase II binding protein 1 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:133,600,238...133,661,941
Ensembl chr 3:133,598,175...133,662,380 		JBrowse link
G TPRA1 transmembrane protein adipocyte associated 1 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:127,571,232...127,598,231
Ensembl chr 3:127,571,232...127,598,267 		JBrowse link
G TRH thyrotropin releasing hormone IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935 		JBrowse link
G TXNRD3 thioredoxin reductase 3 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:126,607,050...126,655,124
Ensembl chr 3:126,571,779...126,655,124 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 IAGP ClinVar Annotator: match by term: Emberger syndrome ClinVar PMID:22147895 PMID:25741868 NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794 		JBrowse link
G UMPS uridine monophosphate synthetase IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273 		JBrowse link
G UROC1 urocanate hydratase 1 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:126,481,166...126,517,773
Ensembl chr 3:126,481,166...126,517,773 		JBrowse link
G WDR5B WD repeat domain 5B IAGP ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:19449416 PMID:22147895 PMID:25741868 NCBI chr 3:122,411,846...122,416,062
Ensembl chr 3:122,411,846...122,416,062 		JBrowse link
G ZNF148 zinc finger protein 148 IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325 		JBrowse link
G ZXDC ZXD family zinc finger C IAGP ClinVar Annotator: match by term: Emberger syndrome
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia		 ClinVar PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 NCBI chr 3:126,437,601...126,475,891
Ensembl chr 3:126,437,601...126,475,891 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97548
    disease of anatomical entity 91164
      immune system disease 15026
        lymphatic system disease 3162
          lymphedema 188
            Aagenaes syndrome 2
            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 132
            Waldmann Disease 0
            ectodermal dysplasia and immunodeficiency 1 3
            elephantiasis + 11
            hereditary lymphedema + 27
            hypotrichosis-lymphedema-telangiectasia syndrome + 2
            lymphedema-distichiasis syndrome + 2
            microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
Path 2
Term Annotations click to browse term
  disease 97548
    disease of anatomical entity 91164
      Immune & Inflammatory Diseases 18543
        immune system disease 15026
          lymphatic system disease 3162
            lymphedema 188
              Aagenaes syndrome 2
              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 132
              Waldmann Disease 0
              ectodermal dysplasia and immunodeficiency 1 3
              elephantiasis + 11
              hereditary lymphedema + 27
              hypotrichosis-lymphedema-telangiectasia syndrome + 2
              lymphedema-distichiasis syndrome + 2
              microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
paths to the root