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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:Lymphatic Abnormalities
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Accession:DOID:9002213 term browser browse the term
Definition:Congenital or acquired structural abnormalities of the lymphatic system (LYMPHOID TISSUE) including the lymph vessels.
Synonyms:exact_synonym: Lymphatic Abnormality
 primary_id: MESH:D044148;   RDO:0006037
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
Lymphatic Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO RGD PMID:27899284 RGD:13592598 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089 		JBrowse link
G Hoxa3 homeobox A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1673020 NCBI chr 4:82,137,802...82,181,836
Ensembl chr 4:82,138,683...82,141,385 		JBrowse link
22q11 Deletion Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12223415 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831 		JBrowse link
G Six1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296 		JBrowse link
chromosome 22q11.2 deletion syndrome, distal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr11:88,092,794...88,100,220
Ensembl chr11:88,095,170...88,098,252 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254 		JBrowse link
G Mir130b microRNA 130b ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854 		JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr11:88,147,342...88,169,968
Ensembl chr11:88,147,377...88,169,968 		JBrowse link
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent, 1F ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr11:88,313,709...88,343,726
Ensembl chr11:88,313,709...88,343,627 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878 		JBrowse link
G Rimbp3 RIMS binding protein 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr11:88,033,213...88,039,002
Ensembl chr11:88,033,180...88,038,518 		JBrowse link
G Sdf2l1 stromal cell-derived factor 2-like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr11:88,122,271...88,124,513
Ensembl chr11:88,122,271...88,124,513 		JBrowse link
G Tmem191c transmembrane protein 191C ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr11:87,975,508...87,982,861
Ensembl chr11:87,975,527...87,977,368 		JBrowse link
G Top3b DNA topoisomerase III beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr11:88,346,305...88,374,896
Ensembl chr11:88,346,313...88,374,679 		JBrowse link
G Ube2l3 ubiquitin-conjugating enzyme E2L 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr11:88,047,186...88,088,477
Ensembl chr11:88,047,832...88,088,476 		JBrowse link
G Vpreb1 V-set pre-B cell surrogate light chain 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr11:88,376,256...88,377,133
Ensembl chr11:88,376,256...88,377,133 		JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr11:88,089,142...88,094,254
Ensembl chr11:88,090,921...88,093,516 		JBrowse link
G Ypel1 yippee-like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr11:88,171,401...88,186,000
Ensembl chr11:88,173,890...88,180,542 		JBrowse link
G Zfp280b zinc finger protein 280B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr20:13,566,381...13,581,215
Ensembl chr20:13,567,803...13,581,164 		JBrowse link
DiGeorge syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm3 apoptosis inducing factor, mitochondria associated 3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,364,452...87,380,705
Ensembl chr11:87,366,621...87,380,704 		JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO
ISS		 OMIM:188400 MouseDO PMID:12563036 RGD:734550 NCBI chr 8:77,640,234...77,719,488
Ensembl chr 8:77,640,222...77,719,489 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202 PMID:28492532 PMID:32581362, PMID:9126485 RGD:1578806 NCBI chr11:86,736,125...86,793,795
Ensembl chr11:86,736,142...86,793,791 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:14,421,250...14,546,406
Ensembl chr20:14,421,141...14,545,772 		JBrowse link
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,092,794...88,100,220
Ensembl chr11:88,095,170...88,098,252 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 NCBI chr11:86,328,785...86,354,099
Ensembl chr11:86,329,012...86,358,453 		JBrowse link
G Chrd chordin ISS OMIM:188400 MouseDO NCBI chr11:83,858,503...83,867,543
Ensembl chr11:83,858,503...83,867,203 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 NCBI chr11:86,356,292...86,357,718
Ensembl chr11:86,356,294...86,357,718 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence		 CTD
ClinVar		 PMID:8886163 PMID:25516202 PMID:28492532 PMID:32581362 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence		 CTD
ClinVar		 PMID:16399080 PMID:32581362 NCBI chr11:87,338,606...87,356,644
Ensembl chr11:87,778,312...87,815,043 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence		 CTD
ClinVar		 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 NCBI chr11:87,242,441...87,290,806
Ensembl chr11:87,242,522...87,292,955 		JBrowse link
G Dgcr6 DiGeorge syndrome critical region gene 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence		 CTD
ClinVar		 PMID:32581362 NCBI chr11:87,076,205...87,081,306
Ensembl chr11:87,076,381...87,081,950 		JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence		 CTD
ClinVar		 PMID:32581362 NCBI chr11:86,852,682...86,885,233
Ensembl chr11:86,852,711...86,885,224 		JBrowse link
G Dicer1 dicer 1 ribonuclease III ISS OMIM:188400 MouseDO NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183 		JBrowse link
G Dock1 dedicator of cyto-kinesis 1 ISS OMIM:188400 MouseDO NCBI chr 1:206,900,617...207,414,852
Ensembl chr 1:206,900,617...207,414,843 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO RGD PMID:8644734 RGD:1580898 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence		 CTD
ClinVar		 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 NCBI chr11:87,224,371...87,234,329
Ensembl chr11:87,224,421...87,233,326 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16399080 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831 		JBrowse link
G Foxn1 forkhead box N1 ISS OMIM:188400 MouseDO NCBI chr10:65,621,142...65,634,666
Ensembl chr10:65,621,257...65,634,666 		JBrowse link
G Gnaz G protein subunit alpha z ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:14,593,072...14,644,020
Ensembl chr20:14,593,819...14,620,019 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202 PMID:28492532 PMID:32581362 NCBI chr11:86,575,229...86,655,614
Ensembl chr11:86,577,339...86,655,602 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 NCBI chr11:87,220,618...87,222,606
Ensembl chr11:87,220,618...87,222,606 		JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,988,213...88,016,825
Ensembl chr11:87,988,213...88,016,825 		JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 NCBI chr11:86,168,196...86,276,430
Ensembl chr11:86,168,196...86,276,430 		JBrowse link
G Hoxa3 homeobox A3 ISS OMIM:188400 MouseDO NCBI chr 4:82,137,802...82,181,836
Ensembl chr 4:82,138,683...82,141,385 		JBrowse link
G Igll1 immunoglobulin lambda-like polypeptide 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,388,378...88,391,524
Ensembl chr11:88,388,378...88,391,370 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO
ISS		 OMIM:188400 MouseDO PMID:22921202 RGD:9590333 NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005 		JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,646,489...87,718,808
Ensembl chr11:87,677,966...87,718,826 		JBrowse link
G LOC102548901 protein Bop-like ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202 PMID:28492532 PMID:32581362 NCBI chr12:6,230,524...6,231,398 JBrowse link
G LOC498122 similar to CG15908-PA ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 NCBI chr11:86,299,210...86,303,453
Ensembl chr11:86,299,210...86,303,453 		JBrowse link
G Lztr1 leucine-zipper-like transcription regulator 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,553,868...87,628,631
Ensembl chr11:87,553,868...87,628,502 		JBrowse link
G Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 4:153,484,876...153,631,986
Ensembl chr 4:153,484,876...153,593,773 		JBrowse link
G Mir130b microRNA 130b ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 NCBI chr11:86,276,616...86,282,452
Ensembl chr11:86,276,616...86,282,451 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:188400 MouseDO NCBI chr18:55,951,497...56,014,107
Ensembl chr18:55,955,389...55,992,885 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,434,929...87,445,221
Ensembl chr11:87,435,185...87,445,219 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422 		JBrowse link
G Plxnd1 plexin D1 ISS OMIM:188400 MouseDO NCBI chr 4:147,854,309...147,894,170
Ensembl chr 4:147,854,309...147,893,992 		JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,147,342...88,169,968
Ensembl chr11:88,147,377...88,169,968 		JBrowse link
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent, 1F ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,313,709...88,343,726
Ensembl chr11:88,313,709...88,343,627 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878 		JBrowse link
G Prodh1 proline dehydrogenase 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 NCBI chr11:87,058,478...87,075,785
Ensembl chr11:87,058,616...87,075,785 		JBrowse link
G Rab36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:14,557,485...14,573,939
Ensembl chr20:14,557,740...14,573,519 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:86,890,585...86,898,818
Ensembl chr11:86,890,585...86,898,818 		JBrowse link
G Rimbp3 RIMS binding protein 3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,033,213...88,039,002
Ensembl chr11:88,033,180...88,038,518 		JBrowse link
G Rsph14 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:14,576,983...14,653,236
Ensembl chr20:14,577,166...14,653,038 		JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:86,992,665...87,017,091
Ensembl chr11:86,992,399...87,017,115 		JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,722,350...87,733,734
Ensembl chr11:87,722,350...87,733,734 		JBrowse link
G Sdf2l1 stromal cell-derived factor 2-like 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,122,271...88,124,513
Ensembl chr11:88,122,271...88,124,513 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 NCBI chr11:86,516,377...86,522,169
Ensembl chr11:86,512,797...86,522,168 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,913,814...87,924,880
Ensembl chr11:87,913,806...87,924,816 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 NCBI chr11:87,204,248...87,207,265
Ensembl chr11:87,204,175...87,207,264 		JBrowse link
G Slc7a4 solute carrier family 7, member 4 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,445,585...87,450,008
Ensembl chr11:87,446,382...87,449,940 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,827,633...87,858,107
Ensembl chr11:87,827,651...87,858,107 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:86,793,959...86,840,556
Ensembl chr11:86,797,557...86,840,573 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: Catch22
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11748311 PMID:14585638 PMID:15060116 PMID:15190012 PMID:15355425 PMID:16399080 PMID:17000704 PMID:18375573 PMID:19948535 PMID:21921585 PMID:24826987 PMID:24998776 PMID:25205790 PMID:25516202 PMID:25741868 PMID:26467025 PMID:27879657 PMID:28272434 PMID:28492532 PMID:30007050 PMID:32581362 NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISS OMIM:188400 MouseDO NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494 		JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,399,430...87,403,381
Ensembl chr11:87,399,483...87,403,367 		JBrowse link
G Tmem191c transmembrane protein 191C ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,975,508...87,982,861
Ensembl chr11:87,975,527...87,977,368 		JBrowse link
G Top3b DNA topoisomerase III beta ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,346,305...88,374,896
Ensembl chr11:88,346,313...88,374,679 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:86,885,671...86,890,482
Ensembl chr11:86,885,626...86,890,390 		JBrowse link
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362 NCBI chr11:87,235,058...87,236,413
Ensembl chr11:87,221,613...87,236,445 		JBrowse link
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 4:153,774,511...153,791,223
Ensembl chr 4:153,774,486...153,791,328 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202 PMID:28492532 PMID:32581362 NCBI chr11:86,667,994...86,716,063
Ensembl chr11:86,667,997...86,716,254 		JBrowse link
G Ube2l3 ubiquitin-conjugating enzyme E2L 3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,047,186...88,088,477
Ensembl chr11:88,047,832...88,088,476 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32581362, PMID:10024240 RGD:1580803 NCBI chr11:86,304,836...86,328,478
Ensembl chr11:86,304,815...86,328,469 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430 		JBrowse link
G Vegfa vascular endothelial growth factor A ISS OMIM:188400 MouseDO NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681 		JBrowse link
G Vpreb1 V-set pre-B cell surrogate light chain 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,376,256...88,377,133
Ensembl chr11:88,376,256...88,377,133 		JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,089,142...88,094,254
Ensembl chr11:88,090,921...88,093,516 		JBrowse link
G Ypel1 yippee-like 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,171,401...88,186,000
Ensembl chr11:88,173,890...88,180,542 		JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:86,903,122...86,917,261
Ensembl chr11:86,903,122...86,915,715 		JBrowse link
G Zfp280b zinc finger protein 280B ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:13,566,381...13,581,215
Ensembl chr20:13,567,803...13,581,164 		JBrowse link
G Zfp366 zinc finger protein 366 ISS OMIM:188400 MouseDO NCBI chr 2:29,410,169...29,498,661
Ensembl chr 2:29,410,579...29,498,664 		JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 1:70,244,828...70,268,289
Ensembl chr 1:70,253,650...70,266,809 		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:19911200 PMID:19935664 PMID:24033266 PMID:25741868 PMID:27323140 PMID:28492532 NCBI chr18:61,758,754...62,013,194
Ensembl chr18:61,759,289...61,788,863 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 ClinVar PMID:25741868 NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387 		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
ClinVar Annotator: match by OMIM:616006		 OMIM
ClinVar		 PMID:2624276 PMID:22473091 PMID:24056717 PMID:24913602 PMID:25741868 NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387 		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 ClinVar
OMIM		 PMID:28985353 PMID:30450763 NCBI chr14:19,866,278...20,072,896
Ensembl chr14:19,866,408...20,070,994 		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 CTD PMID:19911200 PMID:19935664 NCBI chr18:61,758,754...62,013,194
Ensembl chr18:61,759,289...61,788,863 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387 		JBrowse link
Takao VCF Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Takao vcf syndrome ClinVar PMID:11748311 PMID:15355425 PMID:18375573 PMID:25741868 PMID:28492532 NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969 		JBrowse link
velocardiofacial syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrd chordin ISS OMIM:192430 MouseDO NCBI chr11:83,858,503...83,867,543
Ensembl chr11:83,858,503...83,867,203 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISS OMIM:192430 MouseDO NCBI chr11:87,338,606...87,356,644
Ensembl chr11:87,778,312...87,815,043 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISS OMIM:192430 MouseDO NCBI chr11:87,242,441...87,290,806
Ensembl chr11:87,242,522...87,292,955 		JBrowse link
G Dgcr6 DiGeorge syndrome critical region gene 6 ISS OMIM:192430 MouseDO NCBI chr11:87,076,205...87,081,306
Ensembl chr11:87,076,381...87,081,950 		JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISS OMIM:192430 MouseDO NCBI chr11:86,852,682...86,885,233
Ensembl chr11:86,852,711...86,885,224 		JBrowse link
G Ednra endothelin receptor type A ISS OMIM:192430 MouseDO NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISS OMIM:192430 MouseDO NCBI chr11:87,224,371...87,234,329
Ensembl chr11:87,224,421...87,233,326 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISS OMIM:192430 MouseDO NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISS OMIM:192430 MouseDO NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome/velocardiofacial syndrome
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome
ClinVar Annotator: match by term: Shprintzen syndrome
ClinVar Annotator: match by term: Velocardiofacial syndrome		 ClinVar
OMIM		 PMID:11748311 PMID:14585638 PMID:15060116 PMID:15355425 PMID:15703190 PMID:16684884 PMID:17273972 PMID:18375573 PMID:19948535 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISS OMIM:192430 MouseDO NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      immune system disease 2954
        lymphatic system disease 1102
          Lymphatic Abnormalities 87
            22q11 Deletion Syndrome + 83
            Intestinal Lymphangiectasis + 3
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Immune & Inflammatory Diseases 3585
        immune system disease 2954
          lymphatic system disease 1102
            Lymphatic Abnormalities 87
              22q11 Deletion Syndrome + 83
              Intestinal Lymphangiectasis + 3
paths to the root