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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


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 chr20:36,302,490...36,315,010
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 4:82,599,860...82,643,831
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 1:254,533,504...254,539,605
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Six1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr 6:97,482,617...97,487,853
Ensembl chr 6:91,746,739...91,751,975 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO RGD PMID:16452092 RGD:155663362 NCBI chr11:95,913,610...95,923,392
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
chromosome 22q11.2 deletion syndrome, distal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:28492532 NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745 		JBrowse link
G Aifm3 AIF family member 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr20:13,468,732...13,596,333
Ensembl chr20:13,471,668...13,597,016 		JBrowse link
G C11h22orf39 similar to human chromosome 22 open reading frame 39 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235 		JBrowse link
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr11:83,842,707...83,850,607
Ensembl chr11:83,845,557...83,850,607 		JBrowse link
G Ccdc188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:95,689,702...95,714,980
Ensembl chr11:82,185,473...82,210,619 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:95,717,172...95,718,598
Ensembl chr11:82,211,475...82,214,992 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:97,033,033...97,067,457
Ensembl chr11:83,526,530...83,563,238 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502 		JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:96,208,959...96,241,560
Ensembl chr11:82,704,729...82,737,242 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846 		JBrowse link
G Gnaz G protein subunit alpha z ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr20:13,642,853...13,693,616
Ensembl chr20:13,644,640...13,669,907 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:95,933,994...96,011,933
Ensembl chr11:82,432,627...82,507,466 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:95,882,561...95,883,738
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:96,576,424...96,578,412
Ensembl chr11:83,072,138...83,074,126 		JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr11:97,241,308...97,294,429
Ensembl chr11:83,738,874...83,767,484 		JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529 		JBrowse link
G Iglc1 immunoglobulin lambda constant 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr11:81,947,966...81,949,822
Ensembl chr11:81,947,934...81,949,822
Ensembl chr11:81,947,934...81,949,822 		JBrowse link
G Igll1 immunoglobulin lambda-like polypeptide 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr11:84,138,847...84,142,238
Ensembl chr11:84,138,910...84,142,216 		JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:96,695,168...96,736,079
Ensembl chr11:83,190,891...83,231,770 		JBrowse link
G LOC120095536 protein FAM246A-like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,150,952...83,151,644
Ensembl chr11:83,150,952...83,151,644 		JBrowse link
G Lrrc74b leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:96,991,956...97,008,127
Ensembl chr11:83,487,717...83,503,633 		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:25741868 PMID:31690835 PMID:38177409 NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:96,784,974...96,859,635
Ensembl chr11:83,280,762...83,355,362 		JBrowse link
G Mir1306 microRNA 1306 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719 		JBrowse link
G Mir130b microRNA 130b ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244 		JBrowse link
G Mir185 microRNA 185 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:95,637,751...95,643,587
Ensembl chr11:82,133,398...82,139,233 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:96,944,167...96,956,424
Ensembl chr11:83,439,924...83,450,481 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 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:25741868 PMID:31690835 PMID:38177409 NCBI chr11:97,568,627...97,598,613
Ensembl chr11:84,064,420...84,094,340 		JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr  X:102,862,457...102,867,725
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Rab36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 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: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:96,246,912...96,255,145
Ensembl chr11:82,742,600...82,750,838 		JBrowse link
G Rimbp3 RIMS binding protein 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 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: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr20:13,626,707...13,702,817
Ensembl chr20:13,629,000...13,703,449 		JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:96,348,613...96,373,554
Ensembl chr11:82,844,309...82,869,466 		JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:96,680,237...96,691,686
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: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr11:97,376,878...97,379,120
Ensembl chr11:83,872,659...83,874,902 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:95,877,946...95,883,738
Ensembl chr11:82,369,754...82,379,393 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:97,168,753...97,179,830
Ensembl chr11:83,664,518...83,675,519 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 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: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 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: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:97,082,721...97,113,195
Ensembl chr11:83,578,489...83,608,958 		JBrowse link
G Snora77b small nucleolar RNA, H/ACA box 77B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 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: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:95,913,610...95,923,392
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:96,986,720...96,990,375
Ensembl chr11:83,483,037...83,486,436 		JBrowse link
G Tmem191c transmembrane protein 191C ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 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:25741868 PMID:31690835 PMID:38177409 NCBI chr11:97,601,223...97,629,678
Ensembl chr11:84,097,026...84,125,392 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:96,241,998...96,246,719
Ensembl chr11:82,737,689...82,742,336 		JBrowse link
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,086,578...83,087,933 JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:96,024,321...96,072,475
Ensembl chr11:82,519,999...82,568,156 		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:25741868 PMID:31690835 PMID:38177409 NCBI chr11:97,300,584...97,343,084
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: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:95,665,971...95,689,423
Ensembl chr11:82,161,619...82,185,087 		JBrowse link
G Vpreb1a V-set pre-B cell surrogate light chain 1A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr11:97,631,174...97,632,051
Ensembl chr11:84,126,969...84,127,846 		JBrowse link
G Wfdc21 WAP four-disulfide core domain 21 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr10:69,125,336...69,131,205
Ensembl chr10:68,627,820...68,633,701 		JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 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:25741868 PMID:31690835 PMID:38177409 NCBI chr11:97,426,012...97,440,646 JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 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: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr20:12,626,550...12,641,383
Ensembl chr20:12,627,106...12,646,683 		JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr 1:76,165,208...76,186,843
Ensembl chr 1:67,132,147...67,153,761 		JBrowse link
chromosome 22q11.2 microduplication syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm3 AIF family member 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805 		JBrowse link
G C11h22orf39 similar to human chromosome 22 open reading frame 39 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235 		JBrowse link
G Ccdc188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:95,689,702...95,714,980
Ensembl chr11:82,185,473...82,210,619 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:95,717,172...95,718,598
Ensembl chr11:82,211,475...82,214,992 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:97,033,033...97,067,457
Ensembl chr11:83,526,530...83,563,238 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502 		JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:96,208,959...96,241,560
Ensembl chr11:82,704,729...82,737,242 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:95,933,994...96,011,933
Ensembl chr11:82,432,627...82,507,466 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:95,882,561...95,883,738
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:96,576,424...96,578,412
Ensembl chr11:83,072,138...83,074,126 		JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529 		JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:96,695,168...96,736,079
Ensembl chr11:83,190,891...83,231,770 		JBrowse link
G LOC120095536 protein FAM246A-like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,150,952...83,151,644
Ensembl chr11:83,150,952...83,151,644 		JBrowse link
G Lrrc74b leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:96,991,956...97,008,127
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:96,784,974...96,859,635
Ensembl chr11:83,280,762...83,355,362 		JBrowse link
G Mir1306 microRNA 1306 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719 		JBrowse link
G Mir185 microRNA 185 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:95,637,751...95,643,587
Ensembl chr11:82,133,398...82,139,233 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:96,944,167...96,956,424
Ensembl chr11:83,439,924...83,450,481 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:96,246,912...96,255,145
Ensembl chr11:82,742,600...82,750,838 		JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:96,348,613...96,373,554
Ensembl chr11:82,844,309...82,869,466 		JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:96,680,237...96,691,686
Ensembl chr11:83,175,963...83,187,348 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:95,877,946...95,883,738
Ensembl chr11:82,369,754...82,379,393 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:97,168,753...97,179,830
Ensembl chr11:83,664,518...83,675,519 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 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: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 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: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:97,082,721...97,113,195
Ensembl chr11:83,578,489...83,608,958 		JBrowse link
G Snora77b small nucleolar RNA, H/ACA box 77B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 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: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:95,913,610...95,923,392
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:96,986,720...96,990,375
Ensembl chr11:83,483,037...83,486,436 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:96,241,998...96,246,719
Ensembl chr11:82,737,689...82,742,336 		JBrowse link
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,086,578...83,087,933 JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:96,024,321...96,072,475
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:95,665,971...95,689,423
Ensembl chr11:82,161,619...82,185,087 		JBrowse link
G Wfdc21 WAP four-disulfide core domain 21 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr10:69,125,336...69,131,205
Ensembl chr10:68,627,820...68,633,701 		JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734 		JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:76,165,208...76,186,843
Ensembl chr 1:67,132,147...67,153,761 		JBrowse link
DiGeorge syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm3 AIF family member 3 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 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 8:80,758,641...80,837,891
Ensembl chr 8:71,877,850...71,957,107 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar
RGD		 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... RGD:1578806 NCBI chr11:82,588,137...82,645,832
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 syndrome ClinVar PMID:32581362 NCBI chr20:13,468,732...13,596,333
Ensembl chr20:13,471,668...13,597,016 		JBrowse link
G C11h22orf39 similar to human chromosome 22 open reading frame 39 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235 		JBrowse link
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:83,842,707...83,850,607
Ensembl chr11:83,845,557...83,850,607 		JBrowse link
G Ccdc188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:95,689,702...95,714,980
Ensembl chr11:82,185,473...82,210,619 		JBrowse link
G Chrd chordin ISS OMIM:188400 MouseDO NCBI chr11:93,676,400...93,685,584
Ensembl chr11:80,171,994...80,180,673 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:95,717,172...95,718,598
Ensembl chr11:82,211,475...82,214,992 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome		 CTD
ClinVar		 PMID:8886163 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:188400
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome		 CTD
MouseDO
ClinVar		 PMID:16399080 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:97,033,033...97,067,457
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: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome		 CTD
ClinVar		 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 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: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome		 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: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome		 CTD
ClinVar		 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:96,208,959...96,241,560
Ensembl chr11:82,704,729...82,737,242 		JBrowse link
G Dicer1 dicer 1 ribonuclease III ISS OMIM:188400 MouseDO NCBI chr 6:129,392,298...129,457,252
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 5:171,738,911...171,750,967
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: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome		 CTD
ClinVar		 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:188400		 CTD
MouseDO		 PMID:16399080 NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Foxn1 forkhead box N1 ISS OMIM:188400 MouseDO NCBI chr10:63,749,461...63,778,468
Ensembl chr10:63,251,400...63,273,710 		JBrowse link
G Gnaz G protein subunit alpha z ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr20:13,642,853...13,693,616
Ensembl chr20:13,644,640...13,669,907 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:95,933,994...96,011,933
Ensembl chr11:82,432,627...82,507,466 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:95,882,561...95,883,738
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:96,576,424...96,578,412
Ensembl chr11:83,072,138...83,074,126 		JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:97,241,308...97,294,429
Ensembl chr11:83,738,874...83,767,484 		JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529 		JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr12:47,299,171...47,333,457
Ensembl chr12:41,645,587...41,672,104 		JBrowse link
G Hoxa3 homeobox A3 ISS OMIM:188400 MouseDO NCBI chr 4:82,599,860...82,643,831
Ensembl chr 4:81,269,243...81,313,218 		JBrowse link
G Iglc1 immunoglobulin lambda constant 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:81,947,966...81,949,822
Ensembl chr11:81,947,934...81,949,822
Ensembl chr11:81,947,934...81,949,822 		JBrowse link
G Igll1 immunoglobulin lambda-like polypeptide 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome 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 chr16:75,787,411...75,868,584
Ensembl chr16:69,084,914...69,163,606 		JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:96,695,168...96,736,079
Ensembl chr11:83,190,891...83,231,770 		JBrowse link
G LOC120095536 protein FAM246A-like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr11:83,150,952...83,151,644
Ensembl chr11:83,150,952...83,151,644 		JBrowse link
G Lrrc74b leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:96,991,956...97,008,127
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:96,784,974...96,859,635
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 syndrome ClinVar PMID:32581362 NCBI chr 4:155,824,941...156,025,003
Ensembl chr 4:154,153,834...154,302,590 		JBrowse link
G Mir1306 microRNA 1306 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719 		JBrowse link
G Mir130b microRNA 130b ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244 		JBrowse link
G Mir185 microRNA 185 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:95,637,751...95,643,587
Ensembl chr11:82,133,398...82,139,233 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:188400 MouseDO NCBI chr18:56,407,308...56,470,007
Ensembl chr18:54,140,779...54,178,191 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:31690835 PMID:32581362 NCBI chr11:96,944,167...96,956,424
Ensembl chr11:83,439,924...83,450,481 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: DiGeorge syndrome 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: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
G Plxnd1 plexin D1 ISS OMIM:188400 MouseDO NCBI chr 4:149,002,786...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 syndrome 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 syndrome ClinVar PMID:32581362 NCBI chr11:97,568,627...97,598,613
Ensembl chr11:84,064,420...84,094,340 		JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr  X:102,862,457...102,867,725
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Prodh proline dehydrogenase ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:96,414,275...96,431,604
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Rab36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: DiGeorge syndrome 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: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:96,246,912...96,255,145
Ensembl chr11:82,742,600...82,750,838 		JBrowse link
G Rimbp3 RIMS binding protein 3 ISO ClinVar Annotator: match by term: DiGeorge syndrome 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 syndrome ClinVar PMID:32581362 NCBI chr20:13,626,707...13,702,817
Ensembl chr20:13,629,000...13,703,449 		JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:96,348,613...96,373,554
Ensembl chr11:82,844,309...82,869,466 		JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:96,680,237...96,691,686
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 syndrome ClinVar PMID:32581362 NCBI chr11:97,376,878...97,379,120
Ensembl chr11:83,872,659...83,874,902 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:95,877,946...95,883,738
Ensembl chr11:82,369,754...82,379,393 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:97,168,753...97,179,830
Ensembl chr11:83,664,518...83,675,519 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 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: 22q11.2 deletion syndrome | 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: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:97,082,721...97,113,195
Ensembl chr11:83,578,489...83,608,958 		JBrowse link
G Snora77b small nucleolar RNA, H/ACA box 77B ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 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
ISS		 ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome
OMIM:188400
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:11239417 PMID:11242049 PMID:11748311 PMID:14585638 More... RGD:9590333, RGD:1578374, RGD:155641238 NCBI chr11:95,913,610...95,923,392
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISS OMIM:188400 MouseDO NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:31690835 PMID:32581362 NCBI chr11:96,986,720...96,990,375
Ensembl chr11:83,483,037...83,486,436 		JBrowse link
G Tmem191c transmembrane protein 191C ISO ClinVar Annotator: match by term: DiGeorge syndrome 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 syndrome ClinVar PMID:32581362 NCBI chr11:97,601,223...97,629,678
Ensembl chr11:84,097,026...84,125,392 		JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:25197075 RGD:155641238 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:96,241,998...96,246,719
Ensembl chr11:82,737,689...82,742,336 		JBrowse link
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:83,086,578...83,087,933 JBrowse link
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr 4:156,110,562...156,129,065
Ensembl chr 4:154,440,074...154,456,917 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:96,024,321...96,072,475
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
G Ube2l3 ubiquitin-conjugating enzyme E2L 3 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:97,300,584...97,343,084
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: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar
RGD		 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... RGD:1580803 NCBI chr11:95,665,971...95,689,423
Ensembl chr11:82,161,619...82,185,087 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr 4:156,143,770...156,171,292
Ensembl chr 4:154,471,592...154,499,144 		JBrowse link
G Vegfa vascular endothelial growth factor A ISS OMIM:188400 MouseDO NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vpreb1a V-set pre-B cell surrogate light chain 1A ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:97,631,174...97,632,051
Ensembl chr11:84,126,969...84,127,846 		JBrowse link
G Wfdc21 WAP four-disulfide core domain 21 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:25516202 PMID:28492532 NCBI chr10:69,125,336...69,131,205
Ensembl chr10:68,627,820...68,633,701 		JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: DiGeorge syndrome 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 syndrome ClinVar PMID:32581362 NCBI chr11:97,426,012...97,440,646 JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 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 syndrome ClinVar PMID:32581362 NCBI chr20:12,626,550...12,641,383
Ensembl chr20:12,627,106...12,646,683 		JBrowse link
G Zfp366 zinc finger protein 366 ISS OMIM:188400 MouseDO NCBI chr 2:32,312,712...32,376,996
Ensembl chr 2:30,578,715...30,642,182 		JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr 1:76,165,208...76,186,843
Ensembl chr 1:67,132,147...67,153,761 		JBrowse link
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nebl nebulette ISO ClinVar Annotator: match by term: DiGeorge syndrome/velocardiofacial syndrome complex 2 ClinVar PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More... NCBI chr17:85,022,953...85,374,848
Ensembl chr17:80,118,543...80,466,210 		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: CCBE1-related condition | ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19911200 PMID:19935664 More... NCBI chr18:61,849,821...62,093,876
Ensembl chr18:59,580,768...59,824,400 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 ClinVar PMID:25741868 NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2 OMIM
ClinVar		 PMID:2624276 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 More... NCBI chr 2:123,855,289...123,984,716
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: ADAMTS3-related condition | ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28985353 PMID:30450763 NCBI chr14:18,231,128...18,437,771
Ensembl chr14:18,231,165...18,435,556 		JBrowse link
Hennekam syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LYMPHATIC DYSPLASIA, GENERALIZED		 CTD
ClinVar		 PMID:19911200 PMID:19935664 PMID:25741868 PMID:25814692 PMID:28492532 More... NCBI chr18:61,849,821...62,093,876
Ensembl chr18:59,580,768...59,824,400 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:123,855,289...123,984,716
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: Conotruncal anomaly face syndrome ClinVar PMID:14585638 PMID:15703190 PMID:17273972 NCBI chr11:95,913,610...95,923,392
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 Aifm3 AIF family member 3 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805 		JBrowse link
G C11h22orf39 similar to human chromosome 22 open reading frame 39 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235 		JBrowse link
G Ccdc188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:95,689,702...95,714,980
Ensembl chr11:82,185,473...82,210,619 		JBrowse link
G Chrd chordin ISS OMIM:192430 MouseDO NCBI chr11:93,676,400...93,685,584
Ensembl chr11:80,171,994...80,180,673 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:95,717,172...95,718,598
Ensembl chr11:82,211,475...82,214,992 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISS
ISO		 OMIM:192430
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome		 MouseDO
ClinVar		 PMID:25741868 NCBI chr11:97,033,033...97,067,457
Ensembl chr11:83,526,530...83,563,238 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 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 ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar 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 ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:96,208,959...96,241,560
Ensembl chr11:82,704,729...82,737,242 		JBrowse link
G Ednra endothelin receptor type A ISS OMIM:192430 MouseDO NCBI chr19:47,137,360...47,207,961
Ensembl chr19:30,233,571...30,297,049 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:95,933,994...96,011,933
Ensembl chr11:82,432,627...82,507,466 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:95,882,561...95,883,738
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:96,576,424...96,578,412
Ensembl chr11:83,072,138...83,074,126 		JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529 		JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:96,695,168...96,736,079
Ensembl chr11:83,190,891...83,231,770 		JBrowse link
G LOC120095536 protein FAM246A-like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,150,952...83,151,644
Ensembl chr11:83,150,952...83,151,644 		JBrowse link
G Lrrc74b leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:96,991,956...97,008,127
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISS OMIM:192430 MouseDO NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:96,784,974...96,859,635
Ensembl chr11:83,280,762...83,355,362 		JBrowse link
G Mir1306 microRNA 1306 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719 		JBrowse link
G Mir185 microRNA 185 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:95,637,751...95,643,587
Ensembl chr11:82,133,398...82,139,233 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:96,944,167...96,956,424
Ensembl chr11:83,439,924...83,450,481 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISS OMIM:192430 MouseDO NCBI chr 7:126,518,587...126,614,581
Ensembl chr 7:124,639,142...124,658,113 		JBrowse link
G Prodh proline dehydrogenase ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr11:96,414,275...96,431,604
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:96,246,912...96,255,145
Ensembl chr11:82,742,600...82,750,838 		JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:96,348,613...96,373,554
Ensembl chr11:82,844,309...82,869,466 		JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:96,680,237...96,691,686
Ensembl chr11:83,175,963...83,187,348 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:95,877,946...95,883,738
Ensembl chr11:82,369,754...82,379,393 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:97,168,753...97,179,830
Ensembl chr11:83,664,518...83,675,519 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 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: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 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: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:97,082,721...97,113,195
Ensembl chr11:83,578,489...83,608,958 		JBrowse link
G Snora77b small nucleolar RNA, H/ACA box 77B ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 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
ISS		 OMIM:192430
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Shprintzen VCF syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome		 OMIM
MouseDO
ClinVar
RGD		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:16684884 PMID:17273972 More... RGD:155641243 NCBI chr11:95,913,610...95,923,392
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:96,986,720...96,990,375
Ensembl chr11:83,483,037...83,486,436 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISS OMIM:192430 MouseDO NCBI chr20:10,438,404...10,498,740
Ensembl chr20:10,438,737...10,499,074 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:96,241,998...96,246,719
Ensembl chr11:82,737,689...82,742,336 		JBrowse link
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,086,578...83,087,933 JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:96,024,321...96,072,475
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:95,665,971...95,689,423
Ensembl chr11:82,161,619...82,185,087 		JBrowse link
G Wfdc21 WAP four-disulfide core domain 21 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr10:69,125,336...69,131,205
Ensembl chr10:68,627,820...68,633,701 		JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734 		JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr 1:76,165,208...76,186,843
Ensembl chr 1:67,132,147...67,153,761 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      immune system disease 5031
        lymphatic system disease 1735
          Lymphatic Abnormalities 99
            22q11 Deletion Syndrome + 95
            Intestinal Lymphangiectasis + 3
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      Immune & Inflammatory Diseases 5752
        immune system disease 5031
          lymphatic system disease 1735
            Lymphatic Abnormalities 99
              22q11 Deletion Syndrome + 95
              Intestinal Lymphangiectasis + 3
paths to the root