.
22q11 Deletion Syndrome - Ontology Report - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:22q11 Deletion Syndrome
go back to main search page
Accession:DOID:9001460 term browser browse the term
Definition:Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Synonyms:exact_synonym: 22q11 Deletion Syndromes
 primary_id: MESH:D058165


1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
X
Y
MT

show annotations for term's descendants           Sort by:
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 chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248
JBrowse link
G SIX1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,855...189,624,651
JBrowse link
G TBX1 T-box transcription factor 1 ISO RGD PMID:16452092 RGD:155663362 NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
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 chr 3:39,689,133...39,732,466
Ensembl chr 3:39,698,895...39,732,978
JBrowse link
G AIFM3 apoptosis inducing factor mitochondria associated 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:50,562,611...50,576,273
Ensembl chr14:50,562,776...50,576,275
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 chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,058
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 chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103
JBrowse link
G C14H22orf39 chromosome 14 C22orf39 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:51,106,984...51,112,385
Ensembl chr14:51,106,991...51,112,359
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 chr14:50,255,859...50,260,743 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 chr14:51,517,669...51,520,622
Ensembl chr14:51,517,234...51,520,622
JBrowse link
G CDC45 cell division cycle 45 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
JBrowse link
G CLDN5 claudin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482
JBrowse link
G COMT catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
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 chr14:50,528,950...50,558,664
Ensembl chr14:50,528,955...50,558,662
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 chr14:50,881,260...50,935,603
Ensembl chr14:50,877,872...50,935,564
JBrowse link
G DGCR6L DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:51,644,840...51,657,368 JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:51,473,512...51,489,535
Ensembl chr14:51,469,178...51,489,529
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 chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983
JBrowse link
G GGT1 gamma-glutamyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 NCBI chr14:49,618,737...49,638,054 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 chr14:49,132,012...49,174,114
Ensembl chr14:49,132,013...49,174,108
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 chr14:51,306,561...51,343,040
Ensembl chr14:51,305,039...51,343,029
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 chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
JBrowse link
G GSC2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:50,956,315...50,960,424
Ensembl chr14:50,957,991...50,960,193
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 chr14:50,347,575...50,373,007
Ensembl chr14:50,365,851...50,368,634
JBrowse link
G HIRA histone cell cycle regulator ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409
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 chr14:50,773,917...50,809,991
Ensembl chr14:50,773,964...50,809,986
JBrowse link
G LOC100153093 RIMS-binding protein 3A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr14:50,323,037...50,331,111 JBrowse link
G LOC100523213 immunoglobulin lambda-like polypeptide 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr14:49,951,542...49,960,517 JBrowse link
G LOC110256677 zinc finger protein 280A-like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr14:48,882,955...48,888,138 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 chr14:50,602,524...50,623,367
Ensembl chr14:50,602,701...50,623,116
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 chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
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 chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
JBrowse link
G MED15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:50,703,010...50,759,310
Ensembl chr14:50,703,019...50,759,310
JBrowse link
G MIR1306 microRNA mir-1306 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:51,473,918...51,473,997
Ensembl chr14:51,473,918...51,473,997
JBrowse link
G MIR185 microRNA mir-185 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:51,449,903...51,449,978
Ensembl chr14:51,449,903...51,449,978
JBrowse link
G MRPL40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767
JBrowse link
G P2RX6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:50,595,876...50,633,536
Ensembl chr14:50,622,938...50,633,535
JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:50,390,416...50,491,983
Ensembl chr14:50,390,410...50,491,944
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 chr14:50,206,807...50,232,845
Ensembl chr14:50,208,374...50,232,830
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 chr14:50,040,612...50,083,047
Ensembl chr14:50,040,663...50,063,325
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:25741868 PMID:31690835 PMID:38177409 NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231
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 chr14:49,186,282...49,202,334
Ensembl chr14:49,188,360...49,204,656
JBrowse link
G RANBP1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:51,494,258...51,500,420
Ensembl chr14:51,494,359...51,500,417
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 chr14:49,123,934...49,186,157
Ensembl chr14:49,123,935...49,184,735
JBrowse link
G RTL10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:51,338,134...51,342,383 JBrowse link
G RTN4R reticulon 4 receptor ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:51,579,043...51,603,180
Ensembl chr14:51,579,046...51,602,968
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 chr14:50,813,161...50,824,434
Ensembl chr14:50,812,984...50,824,521
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 chr14:50,249,607...50,251,636
Ensembl chr14:50,246,710...50,251,642
JBrowse link
G SEPTIN5 septin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:51,252,815...51,260,851
Ensembl chr14:51,252,815...51,261,244
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 chr14:50,427,121...50,436,470
Ensembl chr14:50,427,115...50,436,468
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 chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...50,978,039
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 chr14:50,631,693...50,638,381
Ensembl chr14:50,633,878...50,637,404
JBrowse link
G SNAP29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:50,492,187...50,511,475
Ensembl chr14:50,492,187...50,511,456
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 chr14:51,443,597...51,464,370
Ensembl chr14:51,443,638...51,464,367
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 chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
JBrowse link
G THAP7 THAP domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:50,591,412...50,593,778
Ensembl chr14:50,591,410...50,594,105
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 chr14:50,378,957...50,383,573 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 chr14:50,020,412...50,037,854
Ensembl chr14:50,020,509...50,037,856
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 chr14:51,489,889...51,494,204
Ensembl chr14:51,489,892...51,494,190
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 chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093
JBrowse link
G TXNRD2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262
JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr14:50,265,102...50,315,409 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 chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072
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:25741868 PMID:31690835 PMID:38177409 NCBI chr14:49,972,058...49,972,768
Ensembl chr14:49,970,340...49,972,741
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 chr14:50,260,813...50,262,553
Ensembl chr14:50,260,788...50,262,550
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 chr14:50,190,641...50,208,732
Ensembl chr14:50,190,798...50,208,256
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 chr14:51,503,074...51,517,577
Ensembl chr14:51,503,114...51,516,885
JBrowse link
G ZNF74 zinc finger protein 74 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr14:50,840,500...50,869,945
Ensembl chr14:50,840,510...50,869,489
JBrowse link
chromosome 22q11.2 microduplication 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: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr14:50,562,611...50,576,273
Ensembl chr14:50,562,776...50,576,275
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 chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,058
JBrowse link
G C14H22orf39 chromosome 14 C22orf39 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr14:51,106,984...51,112,385
Ensembl chr14:51,106,991...51,112,359
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 chr14:51,517,669...51,520,622
Ensembl chr14:51,517,234...51,520,622
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 chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
JBrowse link
G CLDN5 claudin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482
JBrowse link
G COMT catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
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 chr14:50,528,950...50,558,664
Ensembl chr14:50,528,955...50,558,662
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 chr14:50,881,260...50,935,603
Ensembl chr14:50,877,872...50,935,564
JBrowse link
G DGCR6L DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr14:51,644,840...51,657,368 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 chr14:51,473,512...51,489,535
Ensembl chr14:51,469,178...51,489,529
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 chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983
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 chr14:51,306,561...51,343,040
Ensembl chr14:51,305,039...51,343,029
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 chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
JBrowse link
G GSC2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr14:50,956,315...50,960,424
Ensembl chr14:50,957,991...50,960,193
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 chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409
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 chr14:50,773,917...50,809,991
Ensembl chr14:50,773,964...50,809,986
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 chr14:50,602,524...50,623,367
Ensembl chr14:50,602,701...50,623,116
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 chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
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 chr14:50,703,010...50,759,310
Ensembl chr14:50,703,019...50,759,310
JBrowse link
G MIR1306 microRNA mir-1306 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr14:51,473,918...51,473,997
Ensembl chr14:51,473,918...51,473,997
JBrowse link
G MIR185 microRNA mir-185 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr14:51,449,903...51,449,978
Ensembl chr14:51,449,903...51,449,978
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 chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767
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 chr14:50,595,876...50,633,536
Ensembl chr14:50,622,938...50,633,535
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 chr14:50,390,416...50,491,983
Ensembl chr14:50,390,410...50,491,944
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 chr14:51,494,258...51,500,420
Ensembl chr14:51,494,359...51,500,417
JBrowse link
G RTL10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr14:51,338,134...51,342,383 JBrowse link
G RTN4R reticulon 4 receptor ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr14:51,579,043...51,603,180
Ensembl chr14:51,579,046...51,602,968
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 chr14:50,813,161...50,824,434
Ensembl chr14:50,812,984...50,824,521
JBrowse link
G SEPTIN5 septin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr14:51,252,815...51,260,851
Ensembl chr14:51,252,815...51,261,244
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 chr14:50,427,121...50,436,470
Ensembl chr14:50,427,115...50,436,468
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 chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...50,978,039
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 chr14:50,631,693...50,638,381
Ensembl chr14:50,633,878...50,637,404
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 chr14:50,492,187...50,511,475
Ensembl chr14:50,492,187...50,511,456
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 chr14:51,443,597...51,464,370
Ensembl chr14:51,443,638...51,464,367
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 chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
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 chr14:50,591,412...50,593,778
Ensembl chr14:50,591,410...50,594,105
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 chr14:51,489,889...51,494,204
Ensembl chr14:51,489,892...51,494,190
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 chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093
JBrowse link
G TXNRD2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262
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 chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072
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 chr14:51,503,074...51,517,577
Ensembl chr14:51,503,114...51,516,885
JBrowse link
G ZNF74 zinc finger protein 74 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr14:50,840,500...50,869,945
Ensembl chr14:50,840,510...50,869,489
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: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr14:50,562,611...50,576,273
Ensembl chr14:50,562,776...50,576,275
JBrowse link
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 ISO OMIM:188400 RGD
MouseDO
PMID:12563036 RGD:734550 NCBI chr 1:113,932,722...114,037,059
Ensembl chr 1:113,932,739...114,037,046
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 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,058
JBrowse link
G BCR BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103
JBrowse link
G C14H22orf39 chromosome 14 C22orf39 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 chr14:51,106,984...51,112,385
Ensembl chr14:51,106,991...51,112,359
JBrowse link
G CCDC116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:50,255,859...50,260,743 JBrowse link
G CCDC188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr14:51,517,669...51,520,622
Ensembl chr14:51,517,234...51,520,622
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 chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
JBrowse link
G CHRD chordin ISO OMIM:188400 MouseDO NCBI chr13:122,266,632...122,277,513
Ensembl chr13:122,266,626...122,277,645
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 chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482
JBrowse link
G COMT catechol-O-methyltransferase 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 chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein 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 chr14:50,528,950...50,558,664
Ensembl chr14:50,528,955...50,558,662
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: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr14:50,881,260...50,935,603
Ensembl chr14:50,877,872...50,935,564
JBrowse link
G DGCR6L DiGeorge syndrome critical region gene 6 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 chr14:51,644,840...51,657,368 JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit 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 chr14:51,473,512...51,489,535
Ensembl chr14:51,469,178...51,489,529
JBrowse link
G DICER1 dicer 1, ribonuclease III ISO OMIM:188400 MouseDO NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224
JBrowse link
G DOCK1 dedicator of cytokinesis 1 ISO OMIM:188400 MouseDO NCBI chr14:136,199,747...136,745,488
Ensembl chr14:136,257,807...136,741,882
JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO RGD PMID:8644734 RGD:1580898 NCBI chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,628,913
JBrowse link
G ESS2 ess-2 splicing factor 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 chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983
JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism
OMIM:188400
CTD
MouseDO
PMID:16399080 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248
JBrowse link
G FOXN1 forkhead box N1 ISO OMIM:188400 MouseDO NCBI chr12:44,764,427...44,796,138
Ensembl chr12:44,765,258...44,795,260
JBrowse link
G GGT1 gamma-glutamyltransferase 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:31690835 PMID:32581362 NCBI chr14:49,618,737...49,638,054 JBrowse link
G GNAZ G protein subunit alpha z ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:49,132,012...49,174,114
Ensembl chr14:49,132,013...49,174,108
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 chr14:51,306,561...51,343,040
Ensembl chr14:51,305,039...51,343,029
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 chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
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 chr14:50,956,315...50,960,424
Ensembl chr14:50,957,991...50,960,193
JBrowse link
G HIC2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:50,347,575...50,373,007
Ensembl chr14:50,365,851...50,368,634
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 chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409
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 chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328
JBrowse link
G HOXA3 homeobox A3 ISO OMIM:188400 MouseDO NCBI chr18:45,421,542...45,467,803
Ensembl chr18:45,454,213...45,466,537
JBrowse link
G KAT6A lysine acetyltransferase 6A ISO OMIM:188400 RGD
MouseDO
PMID:22921202 RGD:9590333 NCBI chr17:11,002,818...11,109,974 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 chr14:50,773,917...50,809,991
Ensembl chr14:50,773,964...50,809,986
JBrowse link
G LOC100153093 RIMS-binding protein 3A ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:50,323,037...50,331,111 JBrowse link
G LOC100523213 immunoglobulin lambda-like polypeptide 5 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:49,951,542...49,960,517 JBrowse link
G LOC110256626 proline dehydrogenase 1, mitochondrial 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 chr14:51,624,919...51,644,467 JBrowse link
G LOC110256677 zinc finger protein 280A-like ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:48,882,955...48,888,138 JBrowse link
G LRRC74B leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr14:50,602,524...50,623,367
Ensembl chr14:50,602,701...50,623,116
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 chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
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 chr14:50,703,010...50,759,310
Ensembl chr14:50,703,019...50,759,310
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 5:69,887,884...70,132,969
Ensembl chr 5:69,887,892...70,059,494
JBrowse link
G MIR1306 microRNA mir-1306 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr14:51,473,918...51,473,997
Ensembl chr14:51,473,918...51,473,997
JBrowse link
G MIR185 microRNA mir-185 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr14:51,449,903...51,449,978
Ensembl chr14:51,449,903...51,449,978
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 chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767
JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 ISO OMIM:188400 MouseDO NCBI chr 2:151,433,925...151,525,909
Ensembl chr 2:151,489,521...151,522,749
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 chr14:50,595,876...50,633,536
Ensembl chr14:50,622,938...50,633,535
JBrowse link
G PEX26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr 5:70,133,024...70,142,515
Ensembl chr 5:70,133,024...70,142,503
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 chr14:50,390,416...50,491,983
Ensembl chr14:50,390,410...50,491,944
JBrowse link
G PLXND1 plexin D1 ISO OMIM:188400 MouseDO NCBI chr13:68,946,658...68,996,625
Ensembl chr13:68,946,665...68,996,618
JBrowse link
G PPIL2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:50,206,807...50,232,845
Ensembl chr14:50,208,374...50,232,830
JBrowse link
G PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:50,040,612...50,083,047
Ensembl chr14:50,040,663...50,063,325
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231
JBrowse link
G RAB36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:49,186,282...49,202,334
Ensembl chr14:49,188,360...49,204,656
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 chr14:51,494,258...51,500,420
Ensembl chr14:51,494,359...51,500,417
JBrowse link
G RSPH14 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:49,123,934...49,186,157
Ensembl chr14:49,123,935...49,184,735
JBrowse link
G RTL10 retrotransposon Gag like 10 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 chr14:51,338,134...51,342,383 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 chr14:51,579,043...51,603,180
Ensembl chr14:51,579,046...51,602,968
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 chr14:50,813,161...50,824,434
Ensembl chr14:50,812,984...50,824,521
JBrowse link
G SDF2L1 stromal cell derived factor 2 like 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:50,249,607...50,251,636
Ensembl chr14:50,246,710...50,251,642
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 chr14:51,252,815...51,260,851
Ensembl chr14:51,252,815...51,261,244
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 chr14:50,427,121...50,436,470
Ensembl chr14:50,427,115...50,436,468
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 chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...50,978,039
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 chr14:50,631,693...50,638,381
Ensembl chr14:50,633,878...50,637,404
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 chr14:50,492,187...50,511,475
Ensembl chr14:50,492,187...50,511,456
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 chr14:49,332,937...49,463,965
Ensembl chr14:49,333,009...49,463,963
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 chr14:51,443,597...51,464,370
Ensembl chr14:51,443,638...51,464,367
JBrowse link
G TBX1 T-box transcription factor 1 ISO 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
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
ClinVar
PMID:9536098 PMID:11239417 PMID:11242049 PMID:11748311 PMID:14585638 More... NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO OMIM:188400 MouseDO NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160
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 chr14:50,591,412...50,593,778
Ensembl chr14:50,591,410...50,594,105
JBrowse link
G TMEM191C transmembrane protein 191C ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:50,378,957...50,383,573 JBrowse link
G TOP3B DNA topoisomerase III beta ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:50,020,412...50,037,854
Ensembl chr14:50,020,509...50,037,856
JBrowse link
G TP53 tumor protein p53 ISO RGD PMID:25197075 RGD:155641238 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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 chr14:51,489,889...51,494,204
Ensembl chr14:51,489,892...51,494,190
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 chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093
JBrowse link
G TUBA8 tubulin alpha 8 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr 5:70,154,251...70,174,001
Ensembl chr 5:70,153,922...70,179,970
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 chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262
JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:50,265,102...50,315,409 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 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072
JBrowse link
G USP18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr 5:70,183,321...70,227,990
Ensembl chr 5:70,183,308...70,229,572
JBrowse link
G VEGFA vascular endothelial growth factor A ISO OMIM:188400 MouseDO NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
JBrowse link
G VPREB1 V-set pre-B cell surrogate light chain 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:49,972,058...49,972,768
Ensembl chr14:49,970,340...49,972,741
JBrowse link
G YDJC YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:50,260,813...50,262,553
Ensembl chr14:50,260,788...50,262,550
JBrowse link
G YPEL1 yippee like 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr14:50,190,641...50,208,732
Ensembl chr14:50,190,798...50,208,256
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 chr14:51,503,074...51,517,577
Ensembl chr14:51,503,114...51,516,885
JBrowse link
G ZNF366 zinc finger protein 366 ISO OMIM:188400 MouseDO NCBI chr16:48,708,604...49,048,767
Ensembl chr16:48,708,610...48,780,941
JBrowse link
G ZNF74 zinc finger protein 74 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 chr14:50,840,500...50,869,945
Ensembl chr14:50,840,510...50,869,489
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 chr10:53,602,929...53,957,869
Ensembl chr10:53,602,936...53,958,047
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 chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
JBrowse link
velocardiofacial 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: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr14:50,562,611...50,576,273
Ensembl chr14:50,562,776...50,576,275
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 chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,058
JBrowse link
G C14H22orf39 chromosome 14 C22orf39 homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr14:51,106,984...51,112,385
Ensembl chr14:51,106,991...51,112,359
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 chr14:51,517,669...51,520,622
Ensembl chr14:51,517,234...51,520,622
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 chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
JBrowse link
G CHRD chordin ISO OMIM:192430 MouseDO NCBI chr13:122,266,632...122,277,513
Ensembl chr13:122,266,626...122,277,645
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 chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482
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 chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr14:50,528,950...50,558,664
Ensembl chr14:50,528,955...50,558,662
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 chr14:50,881,260...50,935,603
Ensembl chr14:50,877,872...50,935,564
JBrowse link
G DGCR6L DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr14:51,644,840...51,657,368 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 chr14:51,473,512...51,489,535
Ensembl chr14:51,469,178...51,489,529
JBrowse link
G EDNRA endothelin receptor type A ISO OMIM:192430 MouseDO NCBI chr 8:81,210,750...81,279,053
Ensembl chr 8:81,209,327...81,276,853
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 chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983
JBrowse link
G GGT1 gamma-glutamyltransferase 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr14:49,618,737...49,638,054 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 chr14:51,306,561...51,343,040
Ensembl chr14:51,305,039...51,343,029
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 chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
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 chr14:50,956,315...50,960,424
Ensembl chr14:50,957,991...50,960,193
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 chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409
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 chr14:50,773,917...50,809,991
Ensembl chr14:50,773,964...50,809,986
JBrowse link
G LOC110256626 proline dehydrogenase 1, mitochondrial ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr14:51,624,919...51,644,467 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 chr14:50,602,524...50,623,367
Ensembl chr14:50,602,701...50,623,116
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 chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO OMIM:192430 MouseDO NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
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 chr14:50,703,010...50,759,310
Ensembl chr14:50,703,019...50,759,310
JBrowse link
G MIR1306 microRNA mir-1306 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr14:51,473,918...51,473,997
Ensembl chr14:51,473,918...51,473,997
JBrowse link
G MIR185 microRNA mir-185 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr14:51,449,903...51,449,978
Ensembl chr14:51,449,903...51,449,978
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 chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767
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 chr14:50,595,876...50,633,536
Ensembl chr14:50,622,938...50,633,535
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 chr14:50,390,416...50,491,983
Ensembl chr14:50,390,410...50,491,944
JBrowse link
G PRICKLE1 prickle planar cell polarity protein 1 ISO OMIM:192430 MouseDO NCBI chr 5:73,707,026...73,826,529
Ensembl chr 5:73,707,050...73,826,430
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 chr14:51,494,258...51,500,420
Ensembl chr14:51,494,359...51,500,417
JBrowse link
G RTL10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr14:51,338,134...51,342,383 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 chr14:51,579,043...51,603,180
Ensembl chr14:51,579,046...51,602,968
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 chr14:50,813,161...50,824,434
Ensembl chr14:50,812,984...50,824,521
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 chr14:51,252,815...51,260,851
Ensembl chr14:51,252,815...51,261,244
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 chr14:50,427,121...50,436,470
Ensembl chr14:50,427,115...50,436,468
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 chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...50,978,039
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 chr14:50,631,693...50,638,381
Ensembl chr14:50,633,878...50,637,404
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 chr14:50,492,187...50,511,475
Ensembl chr14:50,492,187...50,511,456
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 chr14:51,443,597...51,464,370
Ensembl chr14:51,443,638...51,464,367
JBrowse link
G TBX1 T-box transcription factor 1 ISO 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
ClinVar
PMID:9536098 PMID:11748311 PMID:15355425 PMID:16684884 PMID:17273972 More... NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
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 chr14:50,591,412...50,593,778
Ensembl chr14:50,591,410...50,594,105
JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 ISO OMIM:192430 MouseDO NCBI chr13:206,936,311...207,013,112
Ensembl chr13:206,936,333...207,013,102
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 chr14:51,489,889...51,494,204
Ensembl chr14:51,489,892...51,494,190
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 chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093
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 chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262
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 chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072
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 chr14:51,503,074...51,517,577
Ensembl chr14:51,503,114...51,516,885
JBrowse link
G ZNF74 zinc finger protein 74 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr14:50,840,500...50,869,945
Ensembl chr14:50,840,510...50,869,489
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15423
    syndrome 10412
      chromosomal deletion syndrome 1565
        22q11 Deletion Syndrome 92
          DiGeorge syndrome + 87
          chromosome 22q11.2 deletion syndrome, distal 65
          velocardiofacial syndrome 50
Path 2
Term Annotations click to browse term
  disease 15423
    Pathological Conditions, Signs and Symptoms 12085
      Pathologic Processes 7673
        Chromosome Aberrations 2739
          Aneuploidy 1895
            Monosomy 1628
              Chromosome Deletion 1628
                chromosomal deletion syndrome 1565
                  22q11 Deletion Syndrome 92
                    DiGeorge syndrome + 87
                    chromosome 22q11.2 deletion syndrome, distal 65
                    velocardiofacial syndrome 50
paths to the root