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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 chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Hoxa3 homeobox A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1673020 NCBI chr 4:81,269,243...81,313,218
Ensembl chr 4:81,269,243...81,313,218 		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 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Six1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975 		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 chr11:83,842,707...83,850,607
Ensembl chr11:83,845,557...83,850,607 		JBrowse link
G LOC100909869 zinc finger protein 280B-like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835
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 chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Mir130b microRNA 130b ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244 		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 chr11:83,897,719...83,920,970
Ensembl chr11:83,897,764...83,922,144 		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 chr11:84,064,422...84,094,410
Ensembl chr11:84,064,420...84,094,340 		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:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096 		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 chr11:83,783,816...83,789,391
Ensembl chr11:83,784,244...83,789,082 		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 chr11:83,872,659...83,874,902
Ensembl chr11:83,872,659...83,874,902 		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 chr11:83,726,155...83,728,926
Ensembl chr11:83,725,185...83,730,172 		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 chr11:84,097,018...84,125,474
Ensembl chr11:84,097,026...84,125,392 		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 chr11:83,797,722...83,838,862
Ensembl chr11:83,797,722...83,838,862 		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 chr11:84,126,969...84,127,846
Ensembl chr11:84,126,969...84,127,846 		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 chr11:83,832,177...83,844,691
Ensembl chr11:83,841,306...83,846,336 		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 chr11:83,921,799...83,936,409 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 chr20:12,627,101...12,641,943
Ensembl chr20:12,627,106...12,646,683 		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 Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248 		JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO
ISS		 OMIM:188400 MouseDO
RGD		 PMID:12563036 RGD:734550 NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar Annotator: match by term: DiGeorge sequence		 ClinVar
RGD		 PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... RGD:1578806 NCBI chr11:82,588,137...82,645,805
Ensembl chr11:82,587,881...82,645,805 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:13,471,679...13,596,497
Ensembl chr20:13,471,668...13,597,016 		JBrowse link
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:83,842,707...83,850,607
Ensembl chr11:83,845,557...83,850,607 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619 		JBrowse link
G Chrd chordin ISS OMIM:188400 MouseDO NCBI chr11:80,171,994...80,181,166
Ensembl chr11:80,171,994...80,180,673 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr11:82,212,822...82,214,248 JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar Annotator: match by term: DiGeorge sequence		 CTD
ClinVar		 PMID:8886163 PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 More... NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar Annotator: match by term: DiGeorge sequence		 CTD
ClinVar		 PMID:11239417 PMID:11242049 PMID:16399080 PMID:24826987 PMID:25205790 More... NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar Annotator: match by term: DiGeorge sequence		 CTD
ClinVar		 PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502 		JBrowse link
G Dgcr6 DiGeorge syndrome critical region gene 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar Annotator: match by term: DiGeorge sequence		 CTD
ClinVar		 PMID:31690835 PMID:32581362 NCBI chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823 		JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar Annotator: match by term: DiGeorge sequence		 CTD
ClinVar		 PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242 		JBrowse link
G Dicer1 dicer 1 ribonuclease III ISS OMIM:188400 MouseDO NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965 		JBrowse link
G Dock1 dedicator of cyto-kinesis 1 ISS OMIM:188400 MouseDO NCBI chr 1:189,467,143...189,983,777
Ensembl chr 1:189,467,143...189,983,768 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO RGD PMID:8644734 RGD:1580898 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar Annotator: match by term: DiGeorge sequence		 CTD
ClinVar		 PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16399080 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Foxn1 forkhead box N1 ISS OMIM:188400 MouseDO NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710 		JBrowse link
G Gnaz G protein subunit alpha z ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:13,643,473...13,694,240
Ensembl chr20:13,644,640...13,669,907 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126 		JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:83,737,075...83,789,554
Ensembl chr11:83,738,874...83,767,484 		JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529 		JBrowse link
G Hoxa3 homeobox A3 ISS OMIM:188400 MouseDO NCBI chr 4:81,269,243...81,313,218
Ensembl chr 4:81,269,243...81,313,218 		JBrowse link
G Igll1 immunoglobulin lambda-like polypeptide 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:84,138,847...84,142,238
Ensembl chr11:84,138,910...84,142,216 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO
ISS		 OMIM:188400 MouseDO
RGD		 PMID:22921202 RGD:9590333 NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606 		JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770 		JBrowse link
G LOC100909869 zinc finger protein 280B-like ISO ClinVar Annotator: match by term: DiGeorge Syndrome ClinVar PMID:32581362
G LOC102548901 protein Bop-like ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More...
G LOC498122 similar to CG15908-PA ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235 		JBrowse link
G Lztr1 leucine-zipper-like transcription regulator 1 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362 		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 4:154,152,776...154,353,274
Ensembl chr 4:154,153,834...154,302,590 		JBrowse link
G Mir130b microRNA 130b ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:188400 MouseDO NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:31690835 PMID:32581362 NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:83,609,136...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
G Plxnd1 plexin D1 ISS OMIM:188400 MouseDO NCBI chr 4:149,002,784...149,043,097
Ensembl chr 4:149,002,784...149,043,244 		JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:83,897,719...83,920,970
Ensembl chr11:83,897,764...83,922,144 		JBrowse link
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent, 1F ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:84,064,422...84,094,410
Ensembl chr11:84,064,420...84,094,340 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Prodh1 proline dehydrogenase 1 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Rab36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:13,606,700...13,624,304
Ensembl chr20:13,608,136...13,624,170 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838 		JBrowse link
G Rimbp3 RIMS binding protein 3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:83,783,816...83,789,391
Ensembl chr11:83,784,244...83,789,082 		JBrowse link
G Rsph14 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:13,627,475...13,703,447
Ensembl chr20:13,629,000...13,703,449 		JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:82,844,585...82,869,012
Ensembl chr11:82,844,309...82,869,466 		JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348 		JBrowse link
G Sdf2l1 stromal cell-derived factor 2-like 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:83,872,659...83,874,902
Ensembl chr11:83,872,659...83,874,902 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781 		JBrowse link
G Slc7a4 solute carrier family 7, member 4 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:31690835 PMID:32581362 NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: Catch22
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11239417 PMID:11242049 PMID:11748311 PMID:14585638 More... NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISS OMIM:188400 MouseDO NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:31690835 PMID:32581362 NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436 		JBrowse link
G Tmem191c transmembrane protein 191C ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:83,726,155...83,728,926
Ensembl chr11:83,725,185...83,730,172 		JBrowse link
G Top3b DNA topoisomerase III beta ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:84,097,018...84,125,474
Ensembl chr11:84,097,026...84,125,392 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336 		JBrowse link
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr11:83,086,578...83,087,933 JBrowse link
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
G Ube2l3 ubiquitin-conjugating enzyme E2L 3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:83,797,722...83,838,862
Ensembl chr11:83,797,722...83,838,862 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar Annotator: match by term: DiGeorge sequence		 ClinVar
RGD		 PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... RGD:1580803 NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144 		JBrowse link
G Vegfa vascular endothelial growth factor A ISS OMIM:188400 MouseDO NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		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 chr11:84,126,969...84,127,846
Ensembl chr11:84,126,969...84,127,846 		JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:83,832,177...83,844,691
Ensembl chr11:83,841,306...83,846,336 		JBrowse link
G Ypel1 yippee-like 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:83,921,799...83,936,409 JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734 		JBrowse link
G Zfp280b zinc finger protein 280B ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:12,627,101...12,641,943
Ensembl chr20:12,627,106...12,646,683 		JBrowse link
G Zfp366 zinc finger protein 366 ISS OMIM:188400 MouseDO NCBI chr 2:30,578,552...30,640,546
Ensembl chr 2:30,578,715...30,642,182 		JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome		 ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761 		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:17576681 PMID:19911200 PMID:19935664 PMID:24033266 More... NCBI chr18:59,579,851...59,823,977 JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 ClinVar PMID:25741868 NCBI chr 2:121,928,188...122,056,711
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
ClinVar Annotator: match by OMIM:616006		 OMIM
ClinVar		 PMID:2624276 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 More... NCBI chr 2:121,928,188...122,056,711
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
ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3		 ClinVar
OMIM		 PMID:25741868 PMID:28985353 PMID:30450763 NCBI chr14:18,231,051...18,437,773
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 CTD PMID:19911200 PMID:19935664 NCBI chr18:59,579,851...59,823,977 JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707 		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 chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		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 chr11:80,171,994...80,181,166
Ensembl chr11:80,171,994...80,180,673 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISS OMIM:192430 MouseDO NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISS OMIM:192430 MouseDO NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502 		JBrowse link
G Dgcr6 DiGeorge syndrome critical region gene 6 ISS OMIM:192430 MouseDO NCBI chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823 		JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISS OMIM:192430 MouseDO NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242 		JBrowse link
G Ednra endothelin receptor type A ISS OMIM:192430 MouseDO NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISS OMIM:192430 MouseDO NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISS OMIM:192430 MouseDO NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISS OMIM:192430 MouseDO NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113 		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 More... NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISS OMIM:192430 MouseDO NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      immune system disease 3401
        lymphatic system disease 1334
          Lymphatic Abnormalities 88
            22q11 Deletion Syndrome + 84
            Intestinal Lymphangiectasis + 3
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      Immune & Inflammatory Diseases 4039
        immune system disease 3401
          lymphatic system disease 1334
            Lymphatic Abnormalities 88
              22q11 Deletion Syndrome + 84
              Intestinal Lymphangiectasis + 3
paths to the root