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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:chromosome 22q11.2 deletion syndrome, distal
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Accession:DOID:0060413 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome. (DO)
Synonyms:exact_synonym: DiGeorge syndrome and Velocardiofacial syndrome;   distal 22q11.2 microdeletion syndrome
 primary_id: MESH:C567511
 alt_id: OMIM:611867
 xref: ORDO:261330


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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 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:28492532 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746 		JBrowse link
G AIFM3 apoptosis inducing factor mitochondria associated 3 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,965,172...20,981,358
Ensembl chr22:20,965,108...20,981,360 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037 		JBrowse link
G C22orf39 chromosome 22 open reading frame 39 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,440,886...19,447,711
Ensembl chr22:19,351,368...19,447,711 		JBrowse link
G CCDC116 coiled-coil domain containing 116 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr22:21,632,760...21,637,329
Ensembl chr22:21,632,716...21,637,329 		JBrowse link
G CCDC188 coiled-coil domain containing 188 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,148,416...20,151,055
Ensembl chr22:20,148,416...20,151,055 		JBrowse link
G CDC45 cell division cycle 45 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CLDN5 claudin 5 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,523,024...19,525,337
Ensembl chr22:19,523,024...19,527,545 		JBrowse link
G CLTCL1 clathrin heavy chain like 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,179,473...19,291,719
Ensembl chr22:19,179,473...19,291,719 		JBrowse link
G COMT catechol-O-methyltransferase IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747 		JBrowse link
G DGCR11 DiGeorge syndrome critical region gene 11 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,046,162...19,048,375
Ensembl chr22:19,046,162...19,048,375 		JBrowse link
G DGCR2 DiGeorge syndrome critical region gene 2 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454 		JBrowse link
G DGCR5 DiGeorge syndrome critical region gene 5 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:18,970,468...19,031,242
Ensembl chr22:18,970,439...19,031,242 		JBrowse link
G DGCR6L DiGeorge syndrome critical region gene 6 like IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,314,238...20,320,060
Ensembl chr22:20,314,238...20,320,080 		JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877 		JBrowse link
G ESS2 ess-2 splicing factor homolog IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684 		JBrowse link
G FAM230G family with sequence similarity 230 member G IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,338,030...20,352,496
Ensembl chr22:20,338,805...20,354,372 		JBrowse link
G FAM246C family with sequence similarity 246 member C (gene/pseudogene) IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,029,524...19,030,221
Ensembl chr22:19,029,524...19,031,242 		JBrowse link
G GGT2P gamma-glutamyltransferase 2, pseudogene IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 NCBI chr22:21,207,976...21,259,684
Ensembl chr22:21,207,973...21,225,554 		JBrowse link
G GGTLC2 gamma-glutamyltransferase light chain 2 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr22:22,644,614...22,647,898
Ensembl chr22:22,644,614...22,647,898 		JBrowse link
G GNAZ G protein subunit alpha z IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr22:23,070,519...23,125,032
Ensembl chr22:23,070,519...23,125,032 		JBrowse link
G GNB1L G protein subunit beta 1 like IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,783,223...19,854,874
Ensembl chr22:19,783,223...19,854,939 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GSC2 goosecoid homeobox 2 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,146,993...19,150,292
Ensembl chr22:19,146,993...19,150,292 		JBrowse link
G HIC2 HIC ZBTB transcriptional repressor 2 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr22:21,417,371...21,451,463
Ensembl chr22:21,417,371...21,451,463 		JBrowse link
G HIRA histone cell cycle regulator IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G IGLC1 immunoglobulin lambda constant 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr22:22,895,375...22,895,694
Ensembl chr22:22,895,375...22,895,834 		JBrowse link
G IGLL5 immunoglobulin lambda like polypeptide 5 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr22:22,887,816...22,896,111
Ensembl chr22:22,887,780...22,896,111 		JBrowse link
G KLHL22 kelch like family member 22 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,441,519...20,495,795
Ensembl chr22:20,441,519...20,495,844 		JBrowse link
G LINC00895 long intergenic non-protein coding RNA 895 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,566,130...19,566,839
Ensembl chr22:19,565,203...19,566,839 		JBrowse link
G LINC00896 long intergenic non-protein coding RNA 896 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,206,332...20,208,537
Ensembl chr22:20,206,380...20,208,524 		JBrowse link
G LINC01311 long intergenic non-protein coding RNA 1311 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,171,706...19,172,832
Ensembl chr22:19,171,395...19,172,851 		JBrowse link
G LINC01637 long intergenic non-protein coding RNA 1637 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,957,092...20,964,680
Ensembl chr22:20,957,092...20,964,682 		JBrowse link
G LINC02891 long intergenic non-protein coding RNA 2891 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,198,729...20,204,918
Ensembl chr22:20,198,729...20,204,918 		JBrowse link
G LOC108510655 enhancer-blocking element 22-3 upstream of CCDC188 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,157,040...20,157,277 JBrowse link
G LOC110120888 VISTA enhancer hs515 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,761,833...19,762,532 JBrowse link
G LOC110121413 VISTA enhancer hs1620 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,420,771...20,424,717 JBrowse link
G LOC112694764 Sharpr-MPRA regulatory region 10527 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,947,746...19,948,040 JBrowse link
G LOC112694766 Sharpr-MPRA regulatory region 2516 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,951,646...19,951,940 JBrowse link
G LOC112694767 Sharpr-MPRA regulatory region 818 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,979,400...20,979,694 JBrowse link
G LOC114004361 Sharpr-MPRA regulatory region 11686 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,155,386...20,155,680 JBrowse link
G LOC116309126 CRISPRi-validated cis-regulatory element chr22.250 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,627,502...19,627,582 JBrowse link
G LOC116309127 CRISPRi-validated cis-regulatory element chr22.431 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,187,977...20,188,680 JBrowse link
G LOC121627929 Sharpr-MPRA regulatory region 13949 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,730,626...19,730,920 JBrowse link
G LOC121627930 Sharpr-MPRA regulatory region 10582 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,777,801...20,778,095 JBrowse link
G LOC121627931 Sharpr-MPRA regulatory region 10319 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,867,421...20,868,107 JBrowse link
G LOC125424386 Sharpr-MPRA regulatory region 15144 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,619,686...19,619,980 JBrowse link
G LOC125424387 Sharpr-MPRA regulatory region 11316 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,238,546...20,238,840 JBrowse link
G LOC125424388 Sharpr-MPRA regulatory region 9836 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,319,406...20,319,700 JBrowse link
G LOC126863097 BRD4-independent group 4 enhancer GRCh37_chr22:19220751-19221950 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,233,228...19,234,427 JBrowse link
G LOC126863098 BRD4-independent group 4 enhancer GRCh37_chr22:19894389-19895588 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,906,866...19,908,065 JBrowse link
G LOC129391263 MPRA-validated peak4453 silencer IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,538,472...19,538,672 JBrowse link
G LOC129391264 MPRA-validated peak4456 silencer IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,351,385...20,351,585 JBrowse link
G LOC129391265 MPRA-validated peak4458 silencer IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,650,253...20,650,453 JBrowse link
G LOC129391266 MPRA-validated peak4460 silencer IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,876,967...20,877,167 JBrowse link
G LOC130066949 ATAC-STARR-seq lymphoblastoid silent region 13451 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,036,019...19,036,188 JBrowse link
G LOC130066950 ATAC-STARR-seq lymphoblastoid silent region 13452 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,109,713...19,109,762 JBrowse link
G LOC130066951 ATAC-STARR-seq lymphoblastoid silent region 13454 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,122,297...19,122,736 JBrowse link
G LOC130066952 ATAC-STARR-seq lymphoblastoid silent region 13457 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,179,233...19,179,332 JBrowse link
G LOC130066953 ATAC-STARR-seq lymphoblastoid active region 18658 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,430,200...19,430,329 JBrowse link
G LOC130066954 ATAC-STARR-seq lymphoblastoid silent region 13459 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,431,620...19,432,019 JBrowse link
G LOC130066955 ATAC-STARR-seq lymphoblastoid silent region 13460 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,432,310...19,432,619 JBrowse link
G LOC130066956 ATAC-STARR-seq lymphoblastoid silent region 13462 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,478,960...19,479,029 JBrowse link
G LOC130066957 ATAC-STARR-seq lymphoblastoid active region 18660 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,479,430...19,479,729 JBrowse link
G LOC130066958 ATAC-STARR-seq lymphoblastoid silent region 13463 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,479,820...19,479,869 JBrowse link
G LOC130066959 ATAC-STARR-seq lymphoblastoid active region 18663 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,855,405...19,855,884 JBrowse link
G LOC130066960 ATAC-STARR-seq lymphoblastoid silent region 13467 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,941,590...19,941,759 JBrowse link
G LOC130066961 ATAC-STARR-seq lymphoblastoid silent region 13468 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,941,830...19,941,959 JBrowse link
G LOC130066962 ATAC-STARR-seq lymphoblastoid silent region 13469 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,941,970...19,942,019 JBrowse link
G LOC130066963 ATAC-STARR-seq lymphoblastoid active region 18664 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,942,290...19,942,459 JBrowse link
G LOC130066964 ATAC-STARR-seq lymphoblastoid active region 18665 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,943,120...19,943,239 JBrowse link
G LOC130066965 ATAC-STARR-seq lymphoblastoid silent region 13470 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,986,901...19,987,340 JBrowse link
G LOC130066966 ATAC-STARR-seq lymphoblastoid silent region 13471 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,016,715...20,017,114 JBrowse link
G LOC130066967 ATAC-STARR-seq lymphoblastoid silent region 13472 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,020,873...20,021,262 JBrowse link
G LOC130066968 ATAC-STARR-seq lymphoblastoid active region 18666 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,021,863...20,021,912 JBrowse link
G LOC130066969 ATAC-STARR-seq lymphoblastoid active region 18667 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,023,231...20,023,370 JBrowse link
G LOC130066970 ATAC-STARR-seq lymphoblastoid active region 18668 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,032,284...20,032,503 JBrowse link
G LOC130066971 ATAC-STARR-seq lymphoblastoid active region 18669 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,034,187...20,034,256 JBrowse link
G LOC130066972 ATAC-STARR-seq lymphoblastoid silent region 13473 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,080,120...20,080,739 JBrowse link
G LOC130066973 ATAC-STARR-seq lymphoblastoid active region 18670 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,081,000...20,081,059 JBrowse link
G LOC130066974 ATAC-STARR-seq lymphoblastoid silent region 13474 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,117,047...20,117,126 JBrowse link
G LOC130066975 ATAC-STARR-seq lymphoblastoid silent region 13475 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,117,367...20,117,926 JBrowse link
G LOC130066976 ATAC-STARR-seq lymphoblastoid silent region 13476 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,118,047...20,118,106 JBrowse link
G LOC130066977 ATAC-STARR-seq lymphoblastoid active region 18671 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,128,907...20,128,956 JBrowse link
G LOC130066978 ATAC-STARR-seq lymphoblastoid silent region 13477 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,131,017...20,131,406 JBrowse link
G LOC130066979 ATAC-STARR-seq lymphoblastoid silent region 13478 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,131,607...20,131,676 JBrowse link
G LOC130066980 ATAC-STARR-seq lymphoblastoid silent region 13481 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,147,007...20,147,126 JBrowse link
G LOC130066981 ATAC-STARR-seq lymphoblastoid silent region 13482 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,147,167...20,147,236 JBrowse link
G LOC130066982 ATAC-STARR-seq lymphoblastoid active region 18672 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,206,449...20,206,688 JBrowse link
G LOC130066983 ATAC-STARR-seq lymphoblastoid silent region 13484 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,239,052...20,239,111 JBrowse link
G LOC130066984 ATAC-STARR-seq lymphoblastoid active region 18673 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,243,715...20,243,764 JBrowse link
G LOC130066985 ATAC-STARR-seq lymphoblastoid silent region 13485 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,268,062...20,268,221 JBrowse link
G LOC130066986 ATAC-STARR-seq lymphoblastoid silent region 13486 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,268,312...20,268,471 JBrowse link
G LOC130066987 ATAC-STARR-seq lymphoblastoid silent region 13487 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,268,522...20,268,581 JBrowse link
G LOC130066988 ATAC-STARR-seq lymphoblastoid silent region 13488 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,285,821...20,285,890 JBrowse link
G LOC130066989 ATAC-STARR-seq lymphoblastoid silent region 13489 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,298,962...20,299,231 JBrowse link
G LOC130066990 ATAC-STARR-seq lymphoblastoid silent region 13490 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,299,272...20,299,451 JBrowse link
G LOC130066991 ATAC-STARR-seq lymphoblastoid silent region 13491 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,299,472...20,299,611 JBrowse link
G LOC130066992 ATAC-STARR-seq lymphoblastoid silent region 13492 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,299,682...20,299,991 JBrowse link
G LOC130066993 ATAC-STARR-seq lymphoblastoid silent region 13493 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,319,737...20,319,966 JBrowse link
G LOC130066994 ATAC-STARR-seq lymphoblastoid silent region 13494 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,320,097...20,320,226 JBrowse link
G LOC130066995 ATAC-STARR-seq lymphoblastoid active region 18678 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,464,226...20,464,415 JBrowse link
G LOC130066996 ATAC-STARR-seq lymphoblastoid silent region 13496 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,495,455...20,496,114 JBrowse link
G LOC130066997 ATAC-STARR-seq lymphoblastoid active region 18679 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,507,593...20,507,702 JBrowse link
G LOC130066998 ATAC-STARR-seq lymphoblastoid active region 18680 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,517,719...20,517,768 JBrowse link
G LOC130066999 ATAC-STARR-seq lymphoblastoid active region 18681 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,551,306...20,551,395 JBrowse link
G LOC130067000 ATAC-STARR-seq lymphoblastoid active region 18682 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,564,578...20,564,627 JBrowse link
G LOC130067001 ATAC-STARR-seq lymphoblastoid silent region 13497 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,702,719...20,702,788 JBrowse link
G LOC130067002 ATAC-STARR-seq lymphoblastoid active region 18683 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,703,019...20,703,128 JBrowse link
G LOC130067003 ATAC-STARR-seq lymphoblastoid silent region 13499 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,745,303...20,745,352 JBrowse link
G LOC130067004 ATAC-STARR-seq lymphoblastoid active region 18684 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,748,564...20,748,613 JBrowse link
G LOC130067005 ATAC-STARR-seq lymphoblastoid active region 18685 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,748,624...20,748,803 JBrowse link
G LOC130067006 ATAC-STARR-seq lymphoblastoid active region 18686 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,748,874...20,749,233 JBrowse link
G LOC130067007 ATAC-STARR-seq lymphoblastoid active region 18687 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,750,326...20,750,445 JBrowse link
G LOC130067008 ATAC-STARR-seq lymphoblastoid silent region 13500 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,858,420...20,858,469 JBrowse link
G LOC130067009 ATAC-STARR-seq lymphoblastoid active region 18688 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,909,975...20,910,154 JBrowse link
G LOC130067010 ATAC-STARR-seq lymphoblastoid silent region 13502 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,917,324...20,917,773 JBrowse link
G LOC130067011 ATAC-STARR-seq lymphoblastoid active region 18689 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,918,064...20,918,123 JBrowse link
G LOC130067012 ATAC-STARR-seq lymphoblastoid active region 18690 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,961,827...20,961,916 JBrowse link
G LOC130067013 ATAC-STARR-seq lymphoblastoid active region 18691 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,961,957...20,962,016 JBrowse link
G LOC130067014 ATAC-STARR-seq lymphoblastoid active region 18692 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,981,745...20,981,824 JBrowse link
G LOC130067015 ATAC-STARR-seq lymphoblastoid active region 18693 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,981,875...20,981,974 JBrowse link
G LOC130067016 ATAC-STARR-seq lymphoblastoid silent region 13504 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,982,365...20,982,494 JBrowse link
G LOC130067017 ATAC-STARR-seq lymphoblastoid active region 18694 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:21,000,972...21,001,181 JBrowse link
G LOC130067018 ATAC-STARR-seq lymphoblastoid silent region 13505 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:21,001,782...21,001,951 JBrowse link
G LOC130067019 ATAC-STARR-seq lymphoblastoid silent region 13506 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:21,001,972...21,002,081 JBrowse link
G LOC130067020 ATAC-STARR-seq lymphoblastoid active region 18695 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:21,014,045...21,014,194 JBrowse link
G LOC132090627 Neanderthal introgressed variant-containing enhancer experimental_62558 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,135,625...19,135,794 JBrowse link
G LOC132090628 Neanderthal introgressed variant-containing enhancer experimental_62670 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,412,728...20,412,897 JBrowse link
G LOC132090629 Neanderthal introgressed variant-containing enhancer experimental_62725 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,450,997...20,451,166 JBrowse link
G LOC132090630 Neanderthal introgressed variant-containing enhancer experimental_62734 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,451,314...20,451,483 JBrowse link
G LOC132090631 Neanderthal introgressed variant-containing enhancer experimental_62743 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,455,346...20,455,515 JBrowse link
G LOC132090632 Neanderthal introgressed variant-containing enhancer experimental_62777 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,526,739...20,526,908 JBrowse link
G LOC132090633 Neanderthal introgressed variant-containing enhancer experimental_62783 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,537,556...20,537,725 JBrowse link
G LOC132090634 Neanderthal introgressed variant-containing enhancer experimental_62800 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,547,324...20,547,493 JBrowse link
G LOC132090635 Neanderthal introgressed variant-containing enhancer experimental_62813 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,554,143...20,554,312 JBrowse link
G LOC132090636 Neanderthal introgressed variant-containing enhancer experimental_62823 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,561,245...20,561,414 JBrowse link
G LOC132090637 Neanderthal introgressed variant-containing enhancer experimental_62834 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,571,388...20,571,557 JBrowse link
G LOC132090638 Neanderthal introgressed variant-containing enhancer experimental_62844 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,572,441...20,572,610 JBrowse link
G LOC132090918 Neanderthal introgressed variant-containing enhancer experimental_62637 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,373,300...20,373,469 JBrowse link
G LOC132090919 Neanderthal introgressed variant-containing enhancer experimental_62654 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,405,030...20,405,199 JBrowse link
G LOC132090920 Neanderthal introgressed variant-containing enhancer experimental_62657 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,405,297...20,405,466 JBrowse link
G LRRC74B leucine rich repeat containing 74B IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:21,045,946...21,064,168
Ensembl chr22:21,045,946...21,064,168 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MED15 mediator complex subunit 15 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,507,610...20,587,619
Ensembl chr22:20,495,913...20,587,632 		JBrowse link
G MIR1286 microRNA 1286 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,249,134...20,249,211
Ensembl chr22:20,249,134...20,249,211 		JBrowse link
G MIR1306 microRNA 1306 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,086,058...20,086,142
Ensembl chr22:20,086,058...20,086,142 		JBrowse link
G MIR130B microRNA 130b IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr22:21,653,304...21,653,385
Ensembl chr22:21,653,304...21,653,385 		JBrowse link
G MIR185 microRNA 185 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,033,139...20,033,220
Ensembl chr22:20,033,139...20,033,220 		JBrowse link
G MIR3618 microRNA 3618 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,085,746...20,085,833
Ensembl chr22:20,085,746...20,085,833 		JBrowse link
G MIR4761 microRNA 4761 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,963,753...19,963,834
Ensembl chr22:19,963,753...19,963,834 		JBrowse link
G MIR649 microRNA 649 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:21,034,176...21,034,272
Ensembl chr22:21,034,176...21,034,272 		JBrowse link
G MIR6816 microRNA 6816 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,114,686...20,114,751
Ensembl chr22:20,114,686...20,114,751 		JBrowse link
G MRPL40 mitochondrial ribosomal protein L40 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,432,545...19,436,075
Ensembl chr22:19,432,545...19,436,075 		JBrowse link
G P2RX6 purinergic receptor P2X 6 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:21,009,799...21,028,008
Ensembl chr22:21,009,808...21,028,013 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PPIL2 peptidylprolyl isomerase like 2 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr22:21,666,012...21,700,015
Ensembl chr22:21,666,000...21,700,015 		JBrowse link
G PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr22:21,919,425...21,952,848
Ensembl chr22:21,919,425...21,952,848 		JBrowse link
G PPM1F-AS1 PPM1F antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr22:21,938,237...21,943,434
Ensembl chr22:21,938,269...21,977,632 		JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr22:22,547,701...22,559,265
Ensembl chr22:22,547,701...22,559,361 		JBrowse link
G RAB36 RAB36, member RAS oncogene family IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr22:23,145,324...23,169,280
Ensembl chr22:23,145,366...23,165,663 		JBrowse link
G RANBP1 RAN binding protein 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,116,104...20,127,355
Ensembl chr22:20,115,938...20,127,355 		JBrowse link
G RIMBP3B RIMS binding protein 3B IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 NCBI chr22:21,383,751...21,389,478
Ensembl chr22:21,383,751...21,389,478 		JBrowse link
G RIMBP3C RIMS binding protein 3C IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr22:21,545,666...21,551,461
Ensembl chr22:21,545,666...21,551,461 		JBrowse link
G RSPH14 radial spoke head 14 homolog IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr22:23,059,415...23,180,729
Ensembl chr22:23,059,415...23,145,021 		JBrowse link
G RTL10 retrotransposon Gag like 10 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,846,146...19,854,874
Ensembl chr22:19,846,138...19,854,896 		JBrowse link
G RTN4R reticulon 4 receptor IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,241,415...20,268,318
Ensembl chr22:20,241,415...20,283,246 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
G SDF2L1 stromal cell derived factor 2 like 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr22:21,642,302...21,644,299
Ensembl chr22:21,642,302...21,644,299 		JBrowse link
G SEPTIN5 septin 5 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,717,220...19,724,774
Ensembl chr22:19,717,220...19,724,772
Ensembl chr22:19,717,220...19,724,772 		JBrowse link
G SEPTIN5 septin 5 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,714,503...19,723,319
Ensembl chr22:19,714,503...19,724,224 		JBrowse link
G SERPIND1 serpin family D member 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,774,113...20,787,720
Ensembl chr22:20,774,113...20,787,720 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
G SLC7A4 solute carrier family 7 member 4 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:21,028,718...21,032,561
Ensembl chr22:21,028,718...21,032,840 		JBrowse link
G SNAP29 synaptosome associated protein 29 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214 		JBrowse link
G SNORA77B small nucleolar RNA, H/ACA box 77B IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,126,402...20,126,526
Ensembl chr22:20,126,402...20,126,526 		JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G THAP7 THAP domain containing 7 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,999,104...21,002,118
Ensembl chr22:20,999,104...21,002,196 		JBrowse link
G THAP7-AS1 THAP7 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:21,001,922...21,010,374
Ensembl chr22:21,001,886...21,010,342 		JBrowse link
G TMEM191C transmembrane protein 191C IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr22:21,467,387...21,469,935
Ensembl chr22:21,466,423...21,471,269 		JBrowse link
G TOP3B DNA topoisomerase III beta IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr22:21,957,025...21,982,787
Ensembl chr22:21,957,025...21,982,813 		JBrowse link
G TRMT2A tRNA methyltransferase 2 homolog A IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,111,875...20,117,226
Ensembl chr22:20,111,875...20,117,392 		JBrowse link
G TSSK2 testis specific serine kinase 2 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,131,308...19,132,622
Ensembl chr22:19,131,308...19,132,622 		JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820 		JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr22:21,549,447...21,624,034
Ensembl chr22:21,549,447...21,624,034 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G UFD1-AS1 UFD1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:19,447,434...19,451,688
Ensembl chr22:19,447,893...19,450,105 		JBrowse link
G USP41P ubiquitin specific peptidase 41, pseudogene IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,363,616...20,377,260
Ensembl chr22:20,363,621...20,377,251 		JBrowse link
G VPREB1 V-set pre-B cell surrogate light chain 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr22:22,244,786...22,245,515
Ensembl chr22:22,244,780...22,245,515 		JBrowse link
G YDJC YdjC chitooligosaccharide deacetylase homolog IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr22:21,628,089...21,630,022
Ensembl chr22:21,628,089...21,630,064 		JBrowse link
G YPEL1 yippee like 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr22:21,697,536...21,735,794
Ensembl chr22:21,697,536...21,735,794 		JBrowse link
G ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,131,804...20,148,007
Ensembl chr22:20,129,456...20,148,007 		JBrowse link
G ZNF280A zinc finger protein 280A IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr22:22,513,736...22,520,270
Ensembl chr22:22,513,736...22,520,270 		JBrowse link
G ZNF280B zinc finger protein 280B IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr22:22,484,421...22,509,154
Ensembl chr22:22,484,421...22,508,742 		JBrowse link
G ZNF74 zinc finger protein 74 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:20,394,151...20,408,455
Ensembl chr22:20,394,115...20,408,461 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    physical disorder 7158
      congenital heart disease 1900
        22q11 Deletion Syndrome 248
          chromosome 22q11.2 deletion syndrome, distal 199
Path 2
Term Annotations click to browse term
  disease 35756
    Pathological Conditions, Signs and Symptoms 21495
      Pathologic Processes 13190
        Chromosome Aberrations 6429
          Aneuploidy 5249
            Monosomy 4939
              Chromosome Deletion 4939
                chromosomal deletion syndrome 4770
                  22q11 Deletion Syndrome 248
                    chromosome 22q11.2 deletion syndrome, distal 199
paths to the root