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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 Deletion
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Accession:DOID:9008165 term browser browse the term
Definition:Actual loss of portion of a chromosome.
Synonyms:exact_synonym: Partial Monosomies;   Partial Monosomy;   chromosome deletions
 primary_id: MESH:D002872


show annotations for term's descendants           Sort by:
Chromosome Deletion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21526190 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Rad51d RAD51 paralog D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27924006 NCBI chr10:67,805,720...67,824,452
Ensembl chr10:67,740,712...67,824,434 		JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO RGD PMID:12920066 RGD:1599213 NCBI chr 7:120,568,707...120,630,796
Ensembl chr 7:120,570,402...120,630,374 		JBrowse link
16Q24.3 Microdeletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G Banp Btg3 associated nuclear protein ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738 		JBrowse link
G C19h16orf95 similar to human chromosome 16 open reading frame 95 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:49,605,818...49,618,466
Ensembl chr19:49,605,818...49,618,702 		JBrowse link
G Car5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906 		JBrowse link
G Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659 		JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623 		JBrowse link
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:49,624,813...49,656,052
Ensembl chr19:49,627,686...49,656,010 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246 		JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169 		JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338 		JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868 		JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971 		JBrowse link
G Pabpn1l PABPN1 like ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823 		JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486 		JBrowse link
G Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192 		JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854 		JBrowse link
G Zcchc14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:49,674,185...49,718,004
Ensembl chr19:49,674,195...49,718,029 		JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,282,337...50,324,010 JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591 		JBrowse link
1q24 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:68,673,702...68,770,846
Ensembl chr13:68,673,722...68,839,742 		JBrowse link
G Acbd6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311 		JBrowse link
G Angptl1 angiopoietin-like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:68,963,186...68,981,649
Ensembl chr13:68,962,991...68,992,570 		JBrowse link
G Ankrd45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:73,424,766...73,450,466
Ensembl chr13:73,424,480...73,450,466 		JBrowse link
G Astn1 astrotactin 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:70,537,423...70,855,440
Ensembl chr13:70,537,703...70,855,440 		JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172 		JBrowse link
G Blzf1 basic leucine zipper nuclear factor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:76,641,757...76,656,977
Ensembl chr13:76,641,515...76,656,999 		JBrowse link
G Brinp2 BMP/retinoic acid inducible neural specific 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:70,431,006...70,532,766
Ensembl chr13:70,431,010...70,531,810 		JBrowse link
G C13h1orf105 similar to human chromosome 1 open reading frame 105 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322 		JBrowse link
G Cacna1e calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450 		JBrowse link
G Cacybp calcyclin binding protein ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:72,437,485...72,447,810
Ensembl chr13:72,437,490...72,450,177 		JBrowse link
G Ccdc181 coiled-coil domain containing 181 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:76,624,567...76,638,224
Ensembl chr13:76,624,567...76,638,224 		JBrowse link
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:73,337,235...73,352,115
Ensembl chr13:73,337,257...73,352,114 		JBrowse link
G Cep350 centrosomal protein 350 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:68,023,327...68,164,478
Ensembl chr13:68,026,891...68,165,214 		JBrowse link
G Cop1 COP1, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:71,467,164...71,561,826
Ensembl chr13:71,429,961...71,538,890 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934 		JBrowse link
G Dhx9 DExH-box helicase 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:65,602,322...65,639,098
Ensembl chr13:65,602,323...65,639,069 		JBrowse link
G Dnm3 dynamin 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:74,359,043...74,838,135
Ensembl chr13:74,359,213...74,838,108 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Fam163a family with sequence similarity 163, member A ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:68,262,867...68,341,323
Ensembl chr13:68,262,872...68,341,049 		JBrowse link
G Fam20b FAM20B, glycosaminoglycan xylosylkinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:68,801,663...68,839,979
Ensembl chr13:68,801,669...68,839,915 		JBrowse link
G Faslg Fas ligand ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Firrm FIGNL1 interacting regulator of recombination and mitosis ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:76,301,914...76,345,842
Ensembl chr13:76,301,918...76,345,804 		JBrowse link
G Fmo1 flavin containing dimethylaniline monoxygenase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:75,182,184...75,214,439
Ensembl chr13:75,182,176...75,214,647 		JBrowse link
G Fmo2 flavin containing dimethylaniline monoxygenase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:75,221,149...75,244,377
Ensembl chr13:75,224,402...75,244,308 		JBrowse link
G Fmo3 flavin containing dimethylaniline monoxygenase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:75,309,367...75,334,915
Ensembl chr13:75,309,374...75,328,028 		JBrowse link
G Fmo4 flavin containing dimethylaniline monoxygenase 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:75,154,683...75,172,874
Ensembl chr13:75,154,684...75,172,874 		JBrowse link
G Gas5 growth arrest specific 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:73,303,611...73,306,932 JBrowse link
G Glul glutamate-ammonia ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108 		JBrowse link
G Gorab golgin, RAB6-interacting ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:75,745,678...75,762,307
Ensembl chr13:75,745,680...75,762,298 		JBrowse link
G Gpr52 G protein-coupled receptor 52 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:72,800,265...72,804,989
Ensembl chr13:72,800,127...72,806,180 		JBrowse link
G Ier5 immediate early response 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:67,270,134...67,272,226
Ensembl chr13:67,270,135...67,272,227 		JBrowse link
G Kiaa0040 KIAA0040 ortholog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:72,274,519...72,312,103
Ensembl chr13:72,274,552...72,312,103 		JBrowse link
G Kiaa1614 KIAA1614 homolog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:67,388,916...67,427,392
Ensembl chr13:67,389,044...67,421,272 		JBrowse link
G Kifap3 kinesin-associated protein 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:76,127,702...76,264,654
Ensembl chr13:76,127,696...76,264,650 		JBrowse link
G Klhl20 kelch-like family member 20 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:73,363,451...73,408,293
Ensembl chr13:73,363,455...73,408,337 		JBrowse link
G Lamc1 laminin subunit gamma 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:65,374,372...65,501,492
Ensembl chr13:65,374,372...65,501,492 		JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:65,284,664...65,344,164
Ensembl chr13:65,284,664...65,344,200 		JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:67,877,109...67,917,219
Ensembl chr13:67,877,109...67,927,003 		JBrowse link
G Mettl13 methyltransferase 13, eEF1A N-terminus and K55 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:74,886,151...74,899,937
Ensembl chr13:74,886,155...74,899,870 		JBrowse link
G Mettl18 methyltransferase 18, RPL3 N3(tau)-histidine ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:76,345,888...76,348,798
Ensembl chr13:76,345,957...76,348,836 		JBrowse link
G Mir199a2 microRNA 199a-2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:74,582,954...74,583,063
Ensembl chr13:74,582,954...74,583,063 		JBrowse link
G Mir214 microRNA 214 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481 		JBrowse link
G Mir3120 microRNA 3120 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:74,588,376...74,588,492
Ensembl chr13:74,588,372...74,588,481 		JBrowse link
G Mr1 major histocompatibility complex, class I-related ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:67,298,362...67,317,985
Ensembl chr13:67,299,585...67,317,970 		JBrowse link
G Mroh9 maestro heat-like repeat family member 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:75,387,800...75,443,118
Ensembl chr13:75,387,746...75,443,092 		JBrowse link
G Mrps14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:72,429,168...72,434,915
Ensembl chr13:72,408,558...72,434,915 		JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127 		JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:64,955,622...64,986,144
Ensembl chr13:64,955,503...64,986,277 		JBrowse link
G Nme7 NME/NM23 family member 7 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:76,657,303...76,786,768
Ensembl chr13:76,657,367...76,786,765 		JBrowse link
G Nmnat2 nicotinamide nucleotide adenylyltransferase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:65,105,950...65,277,350
Ensembl chr13:65,105,950...65,278,484 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313 		JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:65,655,099...65,697,464
Ensembl chr13:65,655,118...65,697,372 		JBrowse link
G Ntmt2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:76,050,683...76,093,972
Ensembl chr13:76,053,127...76,093,972 		JBrowse link
G Pappa2 pappalysin 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:70,873,918...71,147,874
Ensembl chr13:70,876,794...71,147,779 		JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211 		JBrowse link
G Prdx6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355 		JBrowse link
G Prrc2c proline-rich coiled-coil 2C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:75,003,995...75,073,701
Ensembl chr13:75,004,010...75,073,643 		JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:75,600,777...75,671,896
Ensembl chr13:75,601,706...75,670,866 		JBrowse link
G Qsox1 quiescin sulfhydryl oxidase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:67,949,780...67,987,434
Ensembl chr13:67,949,780...67,987,459 		JBrowse link
G Rabgap1l RAB GTPase activating protein 1-like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:72,464,114...73,059,845
Ensembl chr13:72,468,110...73,059,984 		JBrowse link
G Ralgps2 Ral GEF with PH domain and SH3 binding motif 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:68,924,674...69,104,637
Ensembl chr13:68,928,474...69,056,549 		JBrowse link
G Rasal2 RAS protein activator like 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:69,279,882...69,569,161
Ensembl chr13:69,258,622...69,569,940 		JBrowse link
G Rc3h1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839 		JBrowse link
G Rgs16 regulator of G-protein signaling 16 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:65,887,668...65,892,862
Ensembl chr13:65,887,530...65,892,857 		JBrowse link
G Rgs8 regulator of G-protein signaling 8 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:65,804,703...65,848,955
Ensembl chr13:65,804,797...65,846,807 		JBrowse link
G Rgsl1 regulator of G-protein signaling like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:65,915,052...65,969,846
Ensembl chr13:65,915,097...65,968,954 		JBrowse link
G Rnasel ribonuclease L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704 		JBrowse link
G Scyl3 SCY1 like pseudokinase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:76,278,428...76,303,038
Ensembl chr13:76,278,428...76,301,716 		JBrowse link
G Sec16b SEC16 homolog B, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:69,665,757...69,727,199
Ensembl chr13:69,684,291...69,727,196 		JBrowse link
G Sele selectin E ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741 		JBrowse link
G Sell selectin L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456 		JBrowse link
G Selp selectin P ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845 		JBrowse link
G Serpinc1 serpin family C member 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293 		JBrowse link
G Shcbp1l SHC binding and spindle associated 1 like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:65,568,863...65,599,155
Ensembl chr13:65,568,863...65,599,154 		JBrowse link
G Slc19a2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:76,601,975...76,616,175
Ensembl chr13:76,601,900...76,616,172 		JBrowse link
G Slc9c2 solute carrier family 9, member C2 (putative) ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:73,424,683...73,524,244
Ensembl chr13:73,451,115...73,524,239
Ensembl chr13:73,451,115...73,524,239 		JBrowse link
G Smg7 SMG7 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:64,986,145...65,050,698
Ensembl chr13:64,987,434...65,050,582 		JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494 		JBrowse link
G Stx6 syntaxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:67,332,329...67,378,580
Ensembl chr13:67,332,314...67,378,576 		JBrowse link
G Suco SUN domain containing ossification factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:74,192,808...74,257,896
Ensembl chr13:74,193,573...74,257,896 		JBrowse link
G Tdrd5 tudor domain containing 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:68,394,180...68,447,745
Ensembl chr13:68,394,061...68,441,319 		JBrowse link
G Teddm1b transmembrane epididymal protein 1B ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:66,000,188...66,002,536
Ensembl chr13:66,000,281...66,001,189 		JBrowse link
G Tex35 testis expressed 35 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:69,220,478...69,232,678
Ensembl chr13:69,220,405...69,232,529 		JBrowse link
G Tnfsf18 TNF superfamily member 18 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:73,833,478...73,907,249
Ensembl chr13:73,831,252...73,843,169 		JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788 		JBrowse link
G Tnn tenascin N ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:72,319,160...72,386,362
Ensembl chr13:72,319,155...72,408,156 		JBrowse link
G Tnr tenascin R ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:71,751,714...72,172,731
Ensembl chr13:72,091,585...72,167,641 		JBrowse link
G Tor1aip1 torsin 1A interacting protein 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:68,196,681...68,226,121
Ensembl chr13:68,196,681...68,225,862 		JBrowse link
G Tor1aip2 torsin 1A interacting protein 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:68,225,226...68,256,536
Ensembl chr13:68,230,009...68,256,536
Ensembl chr13:68,230,009...68,256,536 		JBrowse link
G Tor3a torsin family 3, member A ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:68,769,893...68,798,738
Ensembl chr13:68,769,605...68,798,475 		JBrowse link
G Vamp4 vesicle-associated membrane protein 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:74,919,872...74,942,791
Ensembl chr13:74,919,880...74,933,686 		JBrowse link
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946 		JBrowse link
G Zbtb37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr13:73,271,920...73,303,427
Ensembl chr13:73,280,544...73,337,124 		JBrowse link
G Zfp648 zinc finger protein 648 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr13:66,337,098...66,344,963
Ensembl chr13:66,342,427...66,344,031 		JBrowse link
22q11 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12223415 NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Six1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO RGD PMID:16452092 RGD:155663362 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
3p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd28 ankyrin repeat domain 28 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,918,487...7,050,244
Ensembl chr16:6,914,336...7,050,249 		JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945 		JBrowse link
G C4h3orf20 similar to human chromosome 3 open reading frame 20 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,422,033...124,470,657
Ensembl chr 4:124,432,193...124,469,254 		JBrowse link
G Capn7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,545,630...6,581,908
Ensembl chr16:6,545,731...6,581,905 		JBrowse link
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,392,183...124,419,035
Ensembl chr 4:124,392,274...124,419,035 		JBrowse link
G Chchd4 coiled-coil-helix-coiled-coil-helix domain containing 4 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,968,264...123,977,398
Ensembl chr 4:123,968,265...123,977,414
Ensembl chr 1:123,968,265...123,977,414 		JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,731,850...6,824,973
Ensembl chr16:6,731,858...6,787,107 		JBrowse link
G Dazl deleted in azoospermia-like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:10,695,593...10,712,330
Ensembl chr 9:10,695,592...10,712,323 		JBrowse link
G Dph3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:7,288,295...7,293,734
Ensembl chr16:7,282,705...7,291,265 		JBrowse link
G Eaf1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,698,322...6,713,071
Ensembl chr16:6,698,322...6,713,071 		JBrowse link
G Efhb EF hand domain family, member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,372,191...6,441,678
Ensembl chr 9:6,372,194...6,441,919 		JBrowse link
G Fbln2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,704,289...123,763,857
Ensembl chr 4:123,704,373...123,763,948 		JBrowse link
G Fgd5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,497,061...124,594,564
Ensembl chr 4:124,497,068...124,594,563 		JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:7,227,232...7,267,002
Ensembl chr16:7,227,271...7,267,014 		JBrowse link
G Grip2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,271,456...124,356,538
Ensembl chr 4:124,271,456...124,321,268 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027 		JBrowse link
G Hdac11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,645,873...123,667,407
Ensembl chr 4:123,650,157...123,667,405 		JBrowse link
G Kat2b lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,562,525...6,667,064
Ensembl chr 9:6,562,288...6,667,064 		JBrowse link
G Kcnh8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:5,506,044...5,945,828
Ensembl chr 9:5,506,044...5,945,828 		JBrowse link
G Lsm3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,021,023...124,027,269
Ensembl chr 4:124,021,023...124,027,269 		JBrowse link
G Mettl6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,683,820...6,699,013
Ensembl chr16:6,583,465...6,698,975 		JBrowse link
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,668,320...124,680,086
Ensembl chr 4:124,668,094...124,680,057 		JBrowse link
G Nr2c2 nuclear receptor subfamily 2, group C, member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,610,216...124,666,813
Ensembl chr 4:124,608,960...124,661,902 		JBrowse link
G Nup210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,511,558...123,609,874
Ensembl chr 4:123,511,559...123,609,874 		JBrowse link
G Oxnad1 oxidoreductase NAD-binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:7,293,470...7,322,540
Ensembl chr16:7,293,470...7,322,540 		JBrowse link
G Plcl2 phospholipase C-like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:3,292,564...3,477,009
Ensembl chr 9:3,292,695...3,477,009 		JBrowse link
G Pp2d1 protein phosphatase 2C-like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,512,282...6,533,653
Ensembl chr 9:6,512,657...6,533,639 		JBrowse link
G Rab5a RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,483,906...6,512,877
Ensembl chr 9:6,484,469...6,512,873 		JBrowse link
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,682,228...124,712,578
Ensembl chr 4:124,683,969...124,712,578 		JBrowse link
G Rftn1 raftlin lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:10,804,611...11,002,084
Ensembl chr 9:10,804,611...11,002,084 		JBrowse link
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894 		JBrowse link
G Sh3bp5 SH3-domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,583,462...6,678,344
Ensembl chr16:6,583,465...6,698,975 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,195,186...124,268,880
Ensembl chr 4:124,195,218...124,268,875 		JBrowse link
G Tbc1d5 TBC1 domain family, member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:3,503,328...4,017,131
Ensembl chr 9:3,513,623...4,016,913 		JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 4:146,185,422...146,209,802
Ensembl chr 4:146,185,503...146,211,246 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010 		JBrowse link
46,XY sex reversal 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: 46,XY sex reversal 10 ClinVar PMID:6620326 PMID:22051515 PMID:25604083 NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994 		JBrowse link
46,XY sex reversal 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal 4 ClinVar PMID:25741868 NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333 		JBrowse link
autosomal dominant intellectual developmental disorder 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 | ClinVar Annotator: match by term: ZBTB18-Related Disorder | ClinVar Annotator: match by term: ZBTB18-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24193349 PMID:25741868 PMID:26740508 PMID:27598823 PMID:28135719 More... NCBI chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862 		JBrowse link
Chromosome 11p Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:28492532 NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,871,819...79,881,101
Ensembl chr15:79,871,827...79,880,529 		JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601 		JBrowse link
G Arl11 ADP-ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,483,330...35,485,579
Ensembl chr15:35,480,018...35,496,596 		JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,797,624...75,835,599
Ensembl chr15:75,797,891...75,821,322 		JBrowse link
G C15h13orf42 similar to human chromosome 13 open reading frame 42 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,674,840...36,701,304
Ensembl chr15:36,677,527...36,701,211 		JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,606,588...33,710,518
Ensembl chr15:33,606,694...33,743,545 		JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339 		JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,726,590...33,755,611
Ensembl chr15:33,723,435...33,755,576 		JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,839,668...69,864,852
Ensembl chr16:69,839,630...69,864,913 		JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438 		JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,041,548...55,066,297
Ensembl chr15:55,041,561...55,066,297 		JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,467,333...78,474,382
Ensembl chr15:78,467,804...78,474,382 		JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136 		JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:74,528,122...74,909,811
Ensembl chr15:74,529,208...74,909,922 		JBrowse link
G Diaph3 diaphanous-related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642 		JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,479,533...36,495,730
Ensembl chr15:36,479,534...36,495,697 		JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,508,074...35,531,472
Ensembl chr15:35,508,074...35,531,472 		JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683 		JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867 		JBrowse link
G Fndc3a fibronectin type III domain containing 3a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:47,689,909...47,867,354
Ensembl chr15:47,689,919...47,866,784 		JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527 		JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917 		JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,774,456...35,779,409
Ensembl chr15:35,774,326...35,779,415 		JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,800,078...79,806,017
Ensembl chr15:79,801,191...79,806,282 		JBrowse link
G Klf12 KLF transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:76,628,778...77,062,000
Ensembl chr15:76,637,654...77,062,056 		JBrowse link
G Klf5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445 		JBrowse link
G Klhl1 kelch-like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:72,698,191...73,142,726
Ensembl chr15:72,699,094...73,142,594 		JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419 		JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,566,999...78,769,833
Ensembl chr15:78,567,023...78,769,783 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331 		JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820 		JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498 		JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,787,281...75,797,589
Ensembl chr15:75,786,994...75,797,589 		JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,032,366...82,087,043
Ensembl chr15:82,032,366...82,086,317 		JBrowse link
G Nek3 NIMA-related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,867,020...69,892,477
Ensembl chr16:69,867,047...69,892,508 		JBrowse link
G Nek5 NIMA-related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,895,414...69,938,668
Ensembl chr16:69,895,422...69,939,429 		JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363 		JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:81,269,413...81,308,734
Ensembl chr15:81,269,416...81,308,734 		JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,385,100...55,429,687
Ensembl chr15:55,407,148...55,429,681 		JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:60,222,088...60,316,172
Ensembl chr15:60,222,004...60,313,999 		JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:64,425,534...64,431,790
Ensembl chr15:64,425,534...64,431,790 		JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,198,470...55,203,039
Ensembl chr15:55,198,459...55,205,872 		JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:69,340,108...70,237,531
Ensembl chr15:69,340,645...70,237,538 		JBrowse link
G Phf11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,390,290...33,414,647
Ensembl chr15:33,390,292...33,413,009 		JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712 		JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728 		JBrowse link
G Prr20e proline rich 20E ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 4:121,566,632...121,574,734
Ensembl chr 4:121,571,797...121,573,140 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:81,884,783...81,964,245
Ensembl chr15:81,887,219...81,964,118 		JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302 		JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750 		JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118 		JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372 		JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150 		JBrowse link
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,553,657...33,606,586
Ensembl chr15:33,453,952...33,606,470 		JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350 		JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509 		JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009 		JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,707,185...35,727,704
Ensembl chr15:35,707,060...35,727,509 		JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138 		JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,991,419...55,032,244
Ensembl chr15:54,990,672...55,069,150 		JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265 		JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:63,340,531...63,497,208
Ensembl chr15:63,341,235...63,476,110 		JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504 		JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,733,548...35,772,676
Ensembl chr15:35,734,107...35,772,677 		JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355
Ensembl chr 3:78,485,315...78,527,355 		JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,810,404...69,834,789
Ensembl chr16:69,808,193...69,834,810 		JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304 		JBrowse link
chromosome 15q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apba2 amyloid beta precursor protein binding family A member 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:118,053,270...118,286,858
Ensembl chr 1:118,103,219...118,285,699 		JBrowse link
G Atp10a ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:109,556,760...109,730,440
Ensembl chr 1:109,556,782...109,730,437 		JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25205402 PMID:25741868 PMID:28505103 NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416 		JBrowse link
G Ccdc92b coiled-coil domain containing 92B ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr10:59,479,798...59,501,486
Ensembl chr10:59,479,743...59,501,495 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240 		JBrowse link
G Cluh clustered mitochondria homolog ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr10:59,509,580...59,531,345
Ensembl chr10:59,509,726...59,531,345 		JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386 		JBrowse link
G Entrep2 endosomal transmembrane epsin interactor 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:118,288,365...118,700,514
Ensembl chr 1:118,288,379...118,700,671 		JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:108,268,728...108,381,670
Ensembl chr 1:108,268,776...108,380,917 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
G Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:107,627,450...108,247,483
Ensembl chr 1:107,627,390...108,246,763 		JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134 		JBrowse link
G LOC120100287 small nucleolar RNA SNORD115 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:110,313,740...110,313,816
Ensembl chr 1:110,313,740...110,313,816 		JBrowse link
G LOC120100291 small nucleolar RNA SNORD115 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:110,322,055...110,322,131
Ensembl chr 1:110,322,055...110,322,131 		JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:115,880,142...115,884,684
Ensembl chr 1:115,880,474...115,884,250 		JBrowse link
G Mkrn3 makorin, ring finger protein, 3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:115,926,774...115,929,288
Ensembl chr 1:115,926,776...115,929,283 		JBrowse link
G Ndn necdin, MAGE family member ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:115,849,168...115,850,767
Ensembl chr 1:115,849,105...115,850,767 		JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790 		JBrowse link
G Nipa2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:106,799,979...106,824,206
Ensembl chr 1:106,800,903...106,824,126 		JBrowse link
G Nsmce3 NSE3 homolog, SMC5-SMC6 complex component ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:118,401,302...118,402,629 JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		JBrowse link
G Otud7a OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr 1:117,064,428...117,388,217
Ensembl chr 1:117,064,496...117,386,480 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808 		JBrowse link
G Rap1gap2 RAP1 GTPase activating protein 2 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr10:59,255,400...59,472,536
Ensembl chr10:59,255,278...59,472,170 		JBrowse link
G Snord107 small nucleolar RNA, C/D box 107 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:111,099,306...111,099,377
Ensembl chr 1:111,099,306...111,099,377 		JBrowse link
G Snord64 small nucleolar RNA, C/D box 64 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:111,094,909...111,094,975
Ensembl chr 1:111,094,909...111,094,975 		JBrowse link
G Snrpn small nuclear ribonucleoprotein polypeptide N ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:111,101,327...111,123,400
Ensembl chr 1:111,101,329...111,123,634 		JBrowse link
G Snurf SNRPN upstream open reading frame ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:111,101,327...111,123,634
Ensembl chr 1:111,101,329...111,123,634 		JBrowse link
G Tjp1 tight junction protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432 		JBrowse link
G Tubgcp5 tubulin gamma complex component 5 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:106,636,526...106,672,175
Ensembl chr 1:106,636,526...106,672,175 		JBrowse link
G Ube3a ubiquitin protein ligase E3A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250 		JBrowse link
chromosome 15q13.3 microdeletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome		 CTD
ClinVar		 PMID:25741868 PMID:31690835 NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240 		JBrowse link
G Fan1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:117,915,323...117,945,044
Ensembl chr 1:117,917,099...117,944,977 		JBrowse link
G Klf13 KLF transcription factor 13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome		 CTD
ClinVar		 PMID:31690835 NCBI chr 1:117,505,857...117,536,626
Ensembl chr 1:117,503,602...117,551,227 		JBrowse link
G Mir211 microRNA 211 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:117,777,539...117,777,644
Ensembl chr 1:117,777,539...117,777,644 		JBrowse link
G Mtmr10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:117,859,355...117,910,839
Ensembl chr 1:117,859,267...117,910,849 		JBrowse link
G Otud7a OTU deubiquitinase 7A ISS
ISO		 OMIM:612001
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome		 MouseDO
ClinVar		 PMID:31690835 NCBI chr 1:117,064,428...117,388,217
Ensembl chr 1:117,064,496...117,386,480 		JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605 		JBrowse link
chromosome 15q24 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cimap1c ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 8:57,248,746...57,281,084
Ensembl chr 8:57,248,746...57,281,004 		JBrowse link
G Commd4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 8:57,566,236...57,569,701
Ensembl chr 8:57,566,236...57,569,760 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010 		JBrowse link
G Imp3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 8:57,339,528...57,340,416
Ensembl chr 8:57,339,496...57,340,414 		JBrowse link
G Man2c1 mannosidase, alpha, class 2C, member 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690 		JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258 		JBrowse link
G Ptpn9 protein tyrosine phosphatase, non-receptor type 9 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 8:57,391,290...57,472,352
Ensembl chr 8:57,391,259...57,470,952 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome | ClinVar Annotator: match by term: SIN3A-related condition | ClinVar Annotator: match by term: SIN3A-related intellectual disability syndrome | ClinVar Annotator: match by term: Witteveen-kolk syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18755302 PMID:19557438 PMID:21681106 PMID:25741868 PMID:27399968 More... NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192 		JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 8:57,347,412...57,388,345
Ensembl chr 8:57,348,130...57,380,912 		JBrowse link
G Snx33 sorting nexin 33 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 8:57,315,861...57,328,522
Ensembl chr 8:57,317,161...57,327,538 		JBrowse link
chromosome 15q26-qter deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202 		JBrowse link
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:119,982,272...120,017,416
Ensembl chr 1:119,982,277...120,017,436 		JBrowse link
G Asb7 ankyrin repeat and SOCS box-containing 7 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:120,222,835...120,267,411
Ensembl chr 1:120,222,745...120,267,282 		JBrowse link
G Cers3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902 		JBrowse link
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:119,689,626...119,750,711
Ensembl chr 1:119,686,350...119,750,601 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Lins1 lines homolog 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:120,267,586...120,295,013
Ensembl chr 1:120,267,693...120,293,607 		JBrowse link
G Lrrc28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:121,116,833...121,245,805
Ensembl chr 1:121,127,733...121,245,784 		JBrowse link
G Lrrk1 leucine-rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734 		JBrowse link
G Lysmd4 LysM domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:120,839,180...120,845,148
Ensembl chr 1:120,839,282...120,845,135 		JBrowse link
G Mef2a myocyte enhancer factor 2a ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948 		JBrowse link
G Pgpep1l pyroglutamyl-peptidase I-like ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:121,835,243...121,868,368
Ensembl chr 1:121,840,697...121,869,407 		JBrowse link
G Synm synemin ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:121,333,712...121,363,652
Ensembl chr 1:121,333,720...121,363,652 		JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:121,245,996...121,329,500
Ensembl chr 1:121,248,084...121,329,494 		JBrowse link
chromosome 16p11.2 deletion syndrome, 220-kb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838 		JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 1:181,078,293...181,090,079
Ensembl chr 1:181,078,288...181,089,686 		JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975 		JBrowse link
G Eif3c eukaryotic translation initiation factor 3, subunit C ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 1:181,134,604...181,152,489
Ensembl chr 1:181,134,604...181,152,493 		JBrowse link
G Lat linker for activation of T cells ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 1:180,936,536...180,941,561
Ensembl chr 1:180,936,534...180,941,578 		JBrowse link
G Nfatc2ip nuclear factor of activated T-cells 2 interacting protein ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 1:180,954,834...180,971,847
Ensembl chr 1:180,955,043...180,971,747 		JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 1:181,010,305...181,026,651
Ensembl chr 1:181,010,305...181,026,648 		JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29631267 PMID:31439647 NCBI chr 1:181,048,622...181,057,036
Ensembl chr 1:181,048,623...181,056,579 		JBrowse link
G Spns1 SPNS lysolipid transporter 1, lysophospholipid ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 1:180,942,088...180,949,415
Ensembl chr 1:180,942,088...180,949,370 		JBrowse link
G Sult1a1 sulfotransferase family 1A member 1 ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562 		JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395 		JBrowse link
chromosome 16p11.2 deletion syndrome, 593-kb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,552,968...181,556,902
Ensembl chr 1:181,552,884...181,556,090 		JBrowse link
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838 		JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 1:181,078,293...181,090,079
Ensembl chr 1:181,078,288...181,089,686 		JBrowse link
G Bola2 bolA family member 2 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar NCBI chr 1:181,291,967...181,292,833
Ensembl chr 1:181,291,398...181,292,676 		JBrowse link
G C1h16orf54 similar to human chromosome 16 open reading frame 54 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,702,447...181,705,128
Ensembl chr 1:181,702,503...181,705,835 		JBrowse link
G C1h16orf92 similar to human chromosome 16 open reading frame 92 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,434,524...181,441,000 JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975 		JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408 		JBrowse link
G Cdiptos CDIP transferase, opposite strand ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:181,579,385...181,583,017
Ensembl chr 1:181,579,387...181,582,860 		JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534 		JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030 		JBrowse link
G Eif3c eukaryotic translation initiation factor 3, subunit C ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:181,134,604...181,152,489
Ensembl chr 1:181,134,604...181,152,493 		JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063 		JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,472,537...181,475,082
Ensembl chr 1:181,472,056...181,475,079 		JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469 		JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881 		JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401 		JBrowse link
G Lat linker for activation of T cells ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 1:180,936,536...180,941,561
Ensembl chr 1:180,936,534...180,941,578 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408 		JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380 		JBrowse link
G Nfatc2ip nuclear factor of activated T-cells 2 interacting protein ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 1:180,954,834...180,971,847
Ensembl chr 1:180,955,043...180,971,747 		JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,622,698...181,625,024 JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659 		JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850 		JBrowse link
G Qprt quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,718,189...181,733,486
Ensembl chr 1:181,718,190...181,733,486 		JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 1:181,010,305...181,026,651
Ensembl chr 1:181,010,305...181,026,648 		JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456 		JBrowse link
G Sftpa1 surfactant protein A1 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685 		JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 1:181,048,622...181,057,036
Ensembl chr 1:181,048,623...181,056,579 		JBrowse link
G Slx1b SLX1 homolog B, structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:181,286,190...181,291,739
Ensembl chr 1:181,283,921...181,291,775 		JBrowse link
G Spn sialophorin ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628 		JBrowse link
G Spns1 SPNS lysolipid transporter 1, lysophospholipid ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 1:180,942,088...180,949,415
Ensembl chr 1:180,942,088...180,949,370 		JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613 		JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593 		JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743 		JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,496,195...181,509,259
Ensembl chr 1:181,496,192...181,534,472 		JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395 		JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705 		JBrowse link
G Zg16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:181,657,722...181,660,079
Ensembl chr 1:181,657,722...181,660,079 		JBrowse link
chromosome 16p12.1 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdr2 cerebellar degeneration-related protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 1:175,502,837...175,527,746
Ensembl chr 1:175,502,838...175,537,472 		JBrowse link
G Eef2k eukaryotic elongation factor-2 kinase ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 1:175,393,119...175,456,756
Ensembl chr 1:175,393,154...175,455,164 		JBrowse link
G Mosmo modulator of smoothened ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 1:175,217,680...175,288,521
Ensembl chr 1:175,217,545...175,288,334 		JBrowse link
G Pdzd9 PDZ domain containing 9 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 1:175,188,270...175,217,491
Ensembl chr 1:175,197,641...175,210,880 		JBrowse link
G Polr3e RNA polymerase III subunit E ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 1:175,466,091...175,494,679
Ensembl chr 1:175,466,127...175,494,667 		JBrowse link
G Sdr42e2 short chain dehydrogenase/reductase family 42E, member 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 1:175,361,630...175,382,769
Ensembl chr 1:175,362,150...175,382,050 		JBrowse link
G Uqcrc2 ubiquinol cytochrome c reductase core protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 1:175,167,933...175,198,499
Ensembl chr 1:175,167,894...175,199,453 		JBrowse link
G Vwa3a von Willebrand factor A domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 1:175,293,782...175,355,588
Ensembl chr 1:175,293,873...175,355,602 		JBrowse link
chromosome 16q22 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acd ACD, shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461 		JBrowse link
G C19h16orf86 similar to human chromosome 16 open reading frame 86 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr19:33,596,591...33,598,703
Ensembl chr19:33,595,995...33,598,521 		JBrowse link
G Carmil2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr19:33,571,255...33,586,783
Ensembl chr19:33,574,257...33,586,965 		JBrowse link
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123 		JBrowse link
G Enkd1 enkurin domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr19:33,592,074...33,596,552
Ensembl chr19:33,592,078...33,596,545 		JBrowse link
G Gfod2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr19:33,599,689...33,647,060
Ensembl chr19:33,604,187...33,647,004 		JBrowse link
G Pard6a par-6 family cell polarity regulator alpha ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr19:33,589,531...33,591,900
Ensembl chr19:33,589,542...33,591,900 		JBrowse link
G Ranbp10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr19:33,656,046...33,716,864
Ensembl chr19:33,656,046...33,717,033 		JBrowse link
Chromosome 17 Deletion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544363 PMID:22544367 NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14961032 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome		 CTD
ClinVar		 PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804 		JBrowse link
chromosome 17q12 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aatf apoptosis antagonizing transcription factor ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,299,029...69,392,207
Ensembl chr10:69,299,037...69,392,201 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G C10h17orf78 similar to human chromosome 17 open reading frame 78 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,034,887...69,054,100
Ensembl chr10:69,037,708...69,054,113 		JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231 		JBrowse link
G Ddx52 DExD-box helicase 52 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:68,824,594...68,847,400
Ensembl chr10:68,824,645...68,848,266 		JBrowse link
G Dhrs11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,698,214...69,708,294
Ensembl chr10:69,698,214...69,708,295 		JBrowse link
G Dusp14 dual specificity phosphatase 14 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:68,936,483...68,966,347
Ensembl chr10:68,935,330...68,965,329 		JBrowse link
G Ggnbp2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,711,527...69,743,134
Ensembl chr10:69,711,532...69,743,365 		JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888 		JBrowse link
G Lhx1 LIM homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,396,829...69,403,617
Ensembl chr10:69,396,829...69,403,617 		JBrowse link
G Mrm1 mitochondrial rRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,690,406...69,697,326
Ensembl chr10:69,690,421...69,696,709 		JBrowse link
G Mrpl45 mitochondrial ribosomal protein L45 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr10:82,308,650...82,320,474
Ensembl chr10:82,308,427...82,320,474 		JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475 		JBrowse link
G Synrg synergin, gamma ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:68,848,828...68,931,252
Ensembl chr10:68,849,642...68,931,250 		JBrowse link
G Tada2a transcriptional adaptor 2A ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:68,966,502...69,014,149
Ensembl chr10:68,966,502...69,014,105 		JBrowse link
G Znhit3 zinc finger, HIT-type containing 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,775,885...69,790,471
Ensembl chr10:69,748,789...69,790,475
Ensembl chr10:69,748,789...69,790,475 		JBrowse link
chromosome 18p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110 		JBrowse link
G Akain1 A-kinase anchor inhibitor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:109,389,654...109,436,029
Ensembl chr 9:109,389,736...109,435,067 		JBrowse link
G Ankrd12 ankyrin repeat domain 12 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:105,583,273...105,687,957
Ensembl chr 9:105,584,065...105,687,911 		JBrowse link
G Apcdd1 APC down-regulated 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:56,385,398...56,416,065
Ensembl chr18:56,385,264...56,416,070 		JBrowse link
G Arhgap28 Rho GTPase activating protein 28 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:107,832,584...107,998,030
Ensembl chr 9:107,833,330...107,998,000 		JBrowse link
G Cep192 centrosomal protein 192 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:61,373,937...61,458,405
Ensembl chr18:61,332,158...61,458,379 		JBrowse link
G Cep76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:61,174,514...61,208,512
Ensembl chr18:61,178,310...61,208,504 		JBrowse link
G Chmp1b charged multivesicular body protein 1B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:60,740,349...60,742,879 JBrowse link
G Cidea cell death-inducing DFFA-like effector a ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:60,894,917...60,920,485
Ensembl chr18:60,894,874...60,920,481 		JBrowse link
G Dlgap1 DLG associated protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:109,857,500...110,726,817
Ensembl chr 9:110,167,448...110,726,817 		JBrowse link
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352 		JBrowse link
G Epb41l3 erythrocyte membrane protein band 4.1-like 3 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:109,056,178...109,260,607
Ensembl chr 9:109,016,113...109,260,607 		JBrowse link
G Fam210a family with sequence similarity 210, member A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:61,846,447...61,886,123
Ensembl chr18:61,852,907...61,886,171 		JBrowse link
G Gnal G protein subunit alpha L ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:60,622,311...60,762,599
Ensembl chr18:60,622,311...60,762,599 		JBrowse link
G Impa2 inositol monophosphatase 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:60,834,206...60,867,575
Ensembl chr18:60,834,246...60,865,641 		JBrowse link
G L3mbtl4 L3MBTL histone methyl-lysine binding protein 4 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:108,295,004...108,747,879
Ensembl chr 9:108,329,669...108,747,774 		JBrowse link
G Lama1 laminin subunit alpha 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:107,692,770...107,816,847
Ensembl chr 9:107,692,770...107,817,478 		JBrowse link
G Ldlrad4 low density lipoprotein receptor class A domain containing 4 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:61,519,253...61,848,403
Ensembl chr18:61,521,428...61,843,238 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193 		JBrowse link
G Lrrc30 leucine rich repeat containing 30 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:107,624,479...107,626,147
Ensembl chr 9:107,625,182...107,626,084 		JBrowse link
G Mc2r melanocortin 2 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:62,001,980...62,015,567
Ensembl chr18:62,004,948...62,015,488 		JBrowse link
G Mc5r melanocortin 5 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:61,915,188...61,920,229
Ensembl chr18:61,915,188...61,920,229 		JBrowse link
G Mppe1 metallophosphoesterase 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:60,763,418...60,781,553
Ensembl chr18:60,763,419...60,781,553 		JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:106,305,282...106,441,782
Ensembl chr 9:106,321,098...106,442,203 		JBrowse link
G Myl12a myosin light chain 12A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:110,891,970...110,899,655
Ensembl chr 9:110,873,959...110,916,580 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:110,873,855...110,888,187 JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Napg NSF attachment protein gamma ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:56,439,620...56,459,159
Ensembl chr18:56,440,505...56,459,153 		JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:105,690,454...105,710,669
Ensembl chr 9:105,690,455...105,710,713 		JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
G Ppp4r1 protein phosphatase 4, regulatory subunit 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:105,391,271...105,450,626
Ensembl chr 9:105,391,412...105,450,633 		JBrowse link
G Prelid3a PRELI domain containing 3A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:60,998,898...61,034,821
Ensembl chr18:61,017,764...61,031,883 		JBrowse link
G Psmg2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:61,208,669...61,227,671
Ensembl chr18:61,208,678...61,259,816 		JBrowse link
G Ptpn2 protein tyrosine phosphatase, non-receptor type 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:61,229,012...61,294,662
Ensembl chr18:61,229,014...61,294,627 		JBrowse link
G Ptprm protein tyrosine phosphatase, receptor type, M ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:106,639,573...107,343,698
Ensembl chr 9:106,639,573...107,343,698 		JBrowse link
G Rab12 RAB12, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:106,480,301...106,506,895
Ensembl chr 9:106,480,301...106,506,910 		JBrowse link
G Rab31 RAB31, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:105,246,712...105,382,973
Ensembl chr 9:105,246,709...105,381,253 		JBrowse link
G Ralbp1 ralA binding protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:105,456,425...105,493,235
Ensembl chr 9:105,456,425...105,492,707 		JBrowse link
G Rnmt RNA (guanine-7-) methyltransferase ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:61,886,230...61,909,775
Ensembl chr18:61,886,292...61,909,775 		JBrowse link
G Seh1l SEH1-like nucleoporin ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:61,346,986...61,369,987 JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
G Spire1 spire-type actin nucleation factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:61,041,914...61,171,670
Ensembl chr18:61,041,290...61,171,899 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802 		JBrowse link
G Tmem200c transmembrane protein 200C ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:108,806,063...108,811,901
Ensembl chr 9:108,805,787...108,812,226 		JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418 		JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:105,533,116...105,567,460
Ensembl chr 9:105,533,136...105,567,479 		JBrowse link
G Txndc2 thioredoxin domain containing 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:105,230,575...105,235,131
Ensembl chr 9:105,230,578...105,235,126 		JBrowse link
G Vapa VAMP associated protein A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:105,177,904...105,208,400
Ensembl chr 9:105,177,907...105,207,847 		JBrowse link
G Zbtb14 zinc finger and BTB domain containing 14 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:109,333,440...109,338,646
Ensembl chr 9:109,331,028...109,338,632 		JBrowse link
chromosome 18q deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484 		JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G C18h18orf63 similar to human chromosome 18 open reading frame 63 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:78,159,334...78,202,317
Ensembl chr18:78,164,661...78,202,326 		JBrowse link
G Cbln2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:79,940,412...79,948,766
Ensembl chr18:79,942,590...79,947,855 		JBrowse link
G Cd226 CD226 molecule ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:82,449,924...82,545,107
Ensembl chr18:82,450,568...82,543,051 		JBrowse link
G Cdh19 cadherin 19 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:27,935,915...28,047,490
Ensembl chr13:27,936,668...28,019,310 		JBrowse link
G Cdh20 cadherin 20 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:20,737,640...21,069,746
Ensembl chr13:20,738,081...21,068,676 		JBrowse link
G Cdh7 cadherin 7 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:26,672,058...26,821,571
Ensembl chr13:26,672,484...26,819,846 		JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765 		JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457 		JBrowse link
G Cyb5a cytochrome b5 type A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535 		JBrowse link
G Dipk1c divergent protein kinase domain 1C ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:78,087,972...78,109,910
Ensembl chr18:78,087,991...78,109,904 		JBrowse link
G Dok6 docking protein 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:82,572,762...83,015,951
Ensembl chr18:82,572,762...83,015,951 		JBrowse link
G Dsel dermatan sulfate epimerase-like ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:186,413...192,592
Ensembl chr13:175,805...192,647 		JBrowse link
G Fbxo15 F-box protein 15 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:78,319,577...78,634,695
Ensembl chr18:78,319,534...78,390,765 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577 		JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045 		JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Mc4r melanocortin 4 receptor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719 		JBrowse link
G Neto1 neuropilin and tolloid like 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:79,635,633...79,753,913
Ensembl chr18:79,635,633...79,749,030 		JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028 		JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:73,497,992...73,565,048
Ensembl chr18:73,498,021...73,565,029 		JBrowse link
G Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:22,308,532...22,530,978
Ensembl chr13:22,308,548...22,530,977 		JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790 		JBrowse link
G Ptgr3 prostaglandin reductase 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:77,454,435...77,463,785
Ensembl chr18:77,454,435...77,463,785 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:73,639,264...73,648,914
Ensembl chr18:73,639,260...73,648,915 		JBrowse link
G Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:21,806,972...21,902,807
Ensembl chr13:21,806,972...21,902,807 		JBrowse link
G Rnf152 ring finger protein 152 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:21,324,039...21,403,405
Ensembl chr13:21,323,824...21,403,113 		JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789 		JBrowse link
G Serpinb10 serpin family B member 10 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:23,553,348...23,571,182
Ensembl chr13:23,553,430...23,571,182 		JBrowse link
G Serpinb11 serpin family B member 11 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:23,304,775...23,344,604
Ensembl chr13:23,304,456...23,344,604 		JBrowse link
G Serpinb12 serpin family B member 12 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:23,052,384...23,083,691
Ensembl chr13:23,052,448...23,083,691 		JBrowse link
G Serpinb13 serpin family B member 13 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:23,118,582...23,150,352
Ensembl chr13:23,118,584...23,150,760 		JBrowse link
G Serpinb2 serpin family B member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:23,537,312...23,551,823
Ensembl chr13:23,541,400...23,550,408 		JBrowse link
G Serpinb3 serpin family B member 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:23,274,120...23,280,660
Ensembl chr13:23,274,484...23,313,682 		JBrowse link
G Serpinb3a serpin family B member 3A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:23,241,303...23,246,328
Ensembl chr13:23,236,972...23,246,985 		JBrowse link
G Serpinb5 serpin family B member 5 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:22,985,557...23,005,756
Ensembl chr13:22,985,557...23,005,756 		JBrowse link
G Serpinb7 serpin family B member 7 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205 		JBrowse link
G Serpinb8 serpin family B member 8 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:23,626,936...23,650,277
Ensembl chr13:23,626,945...23,650,835 		JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676 		JBrowse link
G Socs6 suppressor of cytokine signaling 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:82,111,866...82,139,193
Ensembl chr18:82,111,827...82,139,219 		JBrowse link
G Timm21 translocase of inner mitochondrial membrane 21 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:78,314,900...78,319,362
Ensembl chr18:78,314,909...78,319,454 		JBrowse link
G Tmx3 thioredoxin-related transmembrane protein 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:83,731,777...83,764,719
Ensembl chr18:83,731,868...83,762,263 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695 		JBrowse link
G Tshz1 teashirt zinc finger homeobox 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:77,376,399...77,452,815
Ensembl chr18:77,377,394...77,453,509 		JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893 		JBrowse link
G Vps4b vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:22,907,105...22,932,200
Ensembl chr13:22,907,109...22,932,229 		JBrowse link
G Zcchc2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr13:22,118,677...22,193,626
Ensembl chr13:22,119,568...22,166,373 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737 		JBrowse link
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129 		JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269 		JBrowse link
chromosome 19q13.11 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba2 ubiquitin-like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome, distal ClinVar PMID:25741868 NCBI chr 1:86,775,239...86,802,685
Ensembl chr 1:86,775,244...86,802,682 		JBrowse link
chromosome 1p36 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2510039O18Rikl RIKEN cDNA 2510039O18 gene like ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,371,925...158,378,195
Ensembl chr 5:158,371,955...158,378,195 		JBrowse link
G Aadacl3 arylacetamide deacetylase-like 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:156,242,182...156,252,215
Ensembl chr 5:156,243,415...156,252,205 		JBrowse link
G Aadacl4 arylacetamide deacetylase-like 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:156,514,021...156,524,567
Ensembl chr 5:156,513,753...156,524,695 		JBrowse link
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481 		JBrowse link
G Acot7 acyl-CoA thioesterase 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,686,562...162,779,309
Ensembl chr 5:162,684,645...162,779,309 		JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629 		JBrowse link
G Agmat agmatinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:154,043,665...154,074,278
Ensembl chr 5:154,060,151...154,074,276 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003 		JBrowse link
G Agtrap angiotensin II receptor-associated protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,507,427...158,519,036
Ensembl chr 5:158,508,749...158,519,036 		JBrowse link
G Ajap1 adherens junctions associated protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:163,907,846...164,021,004
Ensembl chr 5:163,907,847...164,020,317 		JBrowse link
G Akr7a2 aldo-keto reductase family 7, member A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,552,375...151,560,914
Ensembl chr 5:151,552,343...151,560,909 		JBrowse link
G Akr7a3 aldo-keto reductase family 7 member A3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,590,968...151,601,394
Ensembl chr 5:151,584,479...151,601,394 		JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Angptl7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,932,096...158,937,281
Ensembl chr 5:158,932,794...158,937,324 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953 		JBrowse link
G Arhgef10l Rho guanine nucleotide exchange factor 10 like ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:152,792,247...152,935,255
Ensembl chr 5:152,792,252...152,919,538 		JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212 		JBrowse link
G Arhgef19 Rho guanine nucleotide exchange factor 19 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,536,038...153,554,203
Ensembl chr 5:153,536,013...153,554,203 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482 		JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139 		JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003 		JBrowse link
G C5h1orf127 similar to human chromosome 1 open reading frame 127 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369 		JBrowse link
G C5h1orf159 similar to human chromosome 1 open reading frame 159 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955 		JBrowse link
G C5h1orf167 similar to human chromosome 1 open reading frame 167 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,495,514...158,505,671 JBrowse link
G C5h1orf174 similar to human chromosome 1 open reading frame 174 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:164,515,578...164,520,022
Ensembl chr 5:164,515,559...164,520,021 		JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:161,510,283...162,356,902
Ensembl chr 5:161,510,283...162,356,723 		JBrowse link
G Capzb capping actin protein of muscle Z-line subunit beta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,435,600...151,535,409
Ensembl chr 5:151,434,871...151,535,409 		JBrowse link
G Car6 carbonic anhydrase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:160,658,104...160,676,644
Ensembl chr 5:160,658,105...160,676,644 		JBrowse link
G Casp9 caspase 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626 		JBrowse link
G Casz1 castor zinc finger 1 ISS
ISO		 OMIM:607872
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome		 MouseDO
ClinVar		 NCBI chr 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400 		JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355 		JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882 		JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876 		JBrowse link
G Cela2a chymotrypsin like elastase 2A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632 		JBrowse link
G Cenps centromere protein S ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:159,563,917...159,573,534 JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248 		JBrowse link
G Cfap107 cilia and flagella associated protein 107 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:156,212,385...156,231,481
Ensembl chr 5:156,212,385...156,231,481 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071 		JBrowse link
G Chd5 chromodomain helicase DNA binding protein 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,848,273...162,898,997
Ensembl chr 5:162,848,394...162,896,291 		JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059 		JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148 		JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
G Clstn1 calsyntenin 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:160,031,235...160,094,585
Ensembl chr 5:160,031,308...160,094,583 		JBrowse link
G Cort cortistatin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:159,560,591...159,562,032 JBrowse link
G Cplane2 ciliogenesis and planar polarity effector complex subunit 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,515,507...153,516,455
Ensembl chr 5:153,515,376...153,522,508 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017 		JBrowse link
G Crocc ciliary rootlet coiled-coil, rootletin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,320,962...153,363,734
Ensembl chr 5:153,320,962...153,363,578 		JBrowse link
G Ctnnbip1 catenin, beta-interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:159,961,961...160,010,942
Ensembl chr 5:159,961,928...160,010,939 		JBrowse link
G Ctrc chymotrypsin C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:154,147,314...154,156,540
Ensembl chr 5:154,147,316...154,156,528 		JBrowse link
G Ddi2 DNA damage inducible 1 homolog 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,989,591...154,035,342
Ensembl chr 5:153,995,589...154,035,283 		JBrowse link
G Dffa DNA fragmentation factor subunit alpha ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:159,540,715...159,553,639
Ensembl chr 5:159,540,715...159,553,633 		JBrowse link
G Dffb DNA fragmentation factor subunit beta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:164,522,446...164,534,733
Ensembl chr 5:164,522,463...164,534,628 		JBrowse link
G Dhrs3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:156,747,939...156,782,420
Ensembl chr 5:156,747,962...156,782,417 		JBrowse link
G Disp3 dispatched RND transporter family member 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,672,015...158,720,806
Ensembl chr 5:158,672,015...158,720,806 		JBrowse link
G Dnajc11 DnaJ heat shock protein family (Hsp40) member C11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,442,042...162,487,966
Ensembl chr 5:162,442,026...162,488,169 		JBrowse link
G Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:154,073,372...154,106,246
Ensembl chr 5:154,075,261...154,106,136 		JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,530,149...158,563,457
Ensembl chr 5:158,530,342...158,564,483 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664 		JBrowse link
G Efhd2 EF-hand domain family, member D2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:154,160,945...154,176,980
Ensembl chr 5:154,160,946...154,176,980 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888 		JBrowse link
G Eno1 enolase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336 		JBrowse link
G Epha2 Eph receptor A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117 		JBrowse link
G Errfi1 ERBB receptor feedback inhibitor 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:161,323,981...161,337,289
Ensembl chr 5:161,323,998...161,337,282 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256 		JBrowse link
G Exosc10 exosome component 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,995,313...159,018,940
Ensembl chr 5:158,995,313...159,018,940 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333 		JBrowse link
G Fam131c family with sequence similarity 131, member C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,674,459...153,690,791
Ensembl chr 5:153,671,772...153,690,800 		JBrowse link
G Fblim1 filamin binding LIM protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,883,945...153,915,524
Ensembl chr 5:153,883,960...153,913,757 		JBrowse link
G Fbxo2 F-box protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,592,926...158,598,355
Ensembl chr 5:158,592,925...158,598,355 		JBrowse link
G Fbxo42 F-box protein 42 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,451,162...153,509,564
Ensembl chr 5:153,451,153...153,506,342 		JBrowse link
G Fbxo44 F-box protein 44 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,583,363...158,592,510
Ensembl chr 5:158,583,366...158,592,363 		JBrowse link
G Fbxo6 F-box protein 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,576,729...158,582,520
Ensembl chr 5:158,576,759...158,582,525 		JBrowse link
G Fhad1 forkhead associated phosphopeptide binding domain 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:154,191,593...154,310,442
Ensembl chr 5:154,191,745...154,310,354 		JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326 		JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
G Gpr153 G protein-coupled receptor 153 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,781,587...162,792,975
Ensembl chr 5:162,781,587...162,792,971 		JBrowse link
G Gpr157 G protein-coupled receptor 157 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:160,550,703...160,566,432
Ensembl chr 5:160,550,713...160,566,432 		JBrowse link
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171 		JBrowse link
G Hes2 hes family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,667,190...162,668,235
Ensembl chr 5:162,667,190...162,668,235 		JBrowse link
G Hes3 hes family bHLH transcription factor 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,793,611...162,799,578
Ensembl chr 5:162,794,367...162,796,261 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001 		JBrowse link
G Hspb7 heat shock protein family B (small) member 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,727,782...153,731,268
Ensembl chr 5:153,727,588...153,731,266 		JBrowse link
G Htr6 5-hydroxytryptamine receptor 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,295,269...151,312,853
Ensembl chr 5:151,296,662...151,311,912 		JBrowse link
G Icmt isoprenylcysteine carboxyl methyltransferase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,804,368...162,811,129
Ensembl chr 5:162,804,368...162,811,128 		JBrowse link
G Iffo2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,830,900...151,876,948
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Igsf21 immunoglobin superfamily, member 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:152,287,834...152,512,174
Ensembl chr 5:152,287,835...152,512,174 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651 		JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435 		JBrowse link
G Kazn kazrin, periplakin interacting protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:154,392,793...155,381,567
Ensembl chr 5:154,392,793...154,779,074 		JBrowse link
G Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 ISS
ISO		 OMIM:607872
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome		 MouseDO
ClinVar		 NCBI chr 5:162,899,511...162,988,057
Ensembl chr 5:162,901,896...162,988,243 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Klhdc7a kelch domain containing 7A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:152,218,604...152,224,707
Ensembl chr 5:152,221,033...152,224,551 		JBrowse link
G Klhl17 kelch-like family member 17 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925 		JBrowse link
G Klhl21 kelch-like family member 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,514,888...162,523,545
Ensembl chr 5:162,514,765...162,523,545 		JBrowse link
G LOC100909936 putative PRAME family member 24-like ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr14:14,420,434...14,423,091
Ensembl chr14:14,420,441...14,423,091
Ensembl chr14:14,420,441...14,423,091 		JBrowse link
G Lrrc38 leucine rich repeat containing 38 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:155,685,495...155,707,578
Ensembl chr 5:155,685,495...155,707,578 		JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174 		JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:159,928,260...159,941,512
Ensembl chr 5:159,920,439...159,939,685 		JBrowse link
G Mad2l2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,563,545...158,576,698
Ensembl chr 5:158,563,567...158,576,693 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580 		JBrowse link
G Megf6 multiple EGF-like-domains 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139 		JBrowse link
G Mfap2 microfibril associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,312,068...153,320,266
Ensembl chr 5:153,314,711...153,320,259 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650 		JBrowse link
G Micos10 mitochondrial contact site and cristae organizing system subunit 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,341,124...151,367,403
Ensembl chr 5:151,339,176...151,367,485 		JBrowse link
G Miip migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,292,510...158,299,533
Ensembl chr 5:158,292,511...158,299,694 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,648,494...166,648,582 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366 		JBrowse link
G Mir34a microRNA 34a ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103 		JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543 		JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492 		JBrowse link
G Mrto4 MRT4 homolog, ribosome maturation factor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,601,780...151,608,533
Ensembl chr 5:151,601,780...151,608,287 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322 		JBrowse link
G Nbl1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,318,752...151,329,948
Ensembl chr 5:151,318,754...151,338,719 		JBrowse link
G Necap2 NECAP endocytosis associated 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,370,338...153,382,753
Ensembl chr 5:153,370,338...153,382,729 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180 		JBrowse link
G Noc2l NOC2-like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,820,150...166,831,949
Ensembl chr 5:166,820,161...166,831,949 		JBrowse link
G Nol9 nucleolar protein 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,546,522...162,566,625
Ensembl chr 5:162,546,541...162,566,191 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706 		JBrowse link
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351 		JBrowse link
G Nppb natriuretic peptide B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Otud3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,135,826...151,162,207
Ensembl chr 5:151,140,059...151,163,560 		JBrowse link
G Padi1 peptidyl arginine deiminase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,119,566...153,152,034
Ensembl chr 5:153,119,566...153,152,034 		JBrowse link
G Padi2 peptidyl arginine deiminase 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,209,053...153,251,632
Ensembl chr 5:153,209,053...153,251,632 		JBrowse link
G Padi3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,089,717...153,117,146
Ensembl chr 5:153,089,717...153,117,146 		JBrowse link
G Padi4 peptidyl arginine deiminase 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,041,351...153,074,412
Ensembl chr 5:153,041,352...153,074,362 		JBrowse link
G Padi6 peptidyl arginine deiminase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,021,855...153,037,443
Ensembl chr 5:153,021,965...153,037,414 		JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Pax7 paired box 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,996,368...152,098,023
Ensembl chr 5:151,999,092...152,097,979 		JBrowse link
G Pdpn podoplanin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656 		JBrowse link
G Per3 period circadian regulator 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:161,460,228...161,495,404
Ensembl chr 5:161,459,533...161,495,607 		JBrowse link
G Perm1 PPARGC1 and ESRR induced regulator, muscle 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,800,030...166,805,323
Ensembl chr 5:166,800,030...166,805,323 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272 		JBrowse link
G Pgd phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:159,582,746...159,598,945
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Phf13 PHD finger protein 13 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,494,574...162,501,350
Ensembl chr 5:162,494,573...162,501,350 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930 		JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014 		JBrowse link
G Pla2g2c phospholipase A2, group IIC ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:150,959,365...150,981,388
Ensembl chr 5:150,959,182...150,981,377 		JBrowse link
G Pla2g2d phospholipase A2, group IID ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,016,010...151,022,531
Ensembl chr 5:151,018,870...151,022,525 		JBrowse link
G Pla2g2e phospholipase A2, group IIE ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,121,363...151,127,147
Ensembl chr 5:151,121,439...151,126,821 		JBrowse link
G Pla2g2f phospholipase A2, group IIF ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:150,986,788...150,993,175
Ensembl chr 5:150,986,788...150,993,175 		JBrowse link
G Pla2g5 phospholipase A2, group V ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,041,339...151,109,433
Ensembl chr 5:151,041,340...151,062,658 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356 		JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513 		JBrowse link
G Plekhm2 pleckstrin homology and RUN domain containing M2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,939,582...153,978,625
Ensembl chr 5:153,940,262...153,978,689 		JBrowse link
G Plekhn1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,805,309...166,813,339
Ensembl chr 5:166,804,837...166,813,155 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G Pramef17 PRAME family member 17 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:156,138,800...156,142,916
Ensembl chr 5:156,139,194...156,141,969 		JBrowse link
G Pramef20 PRAME family member 20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:156,171,125...156,175,601
Ensembl chr 5:156,171,125...156,175,601 		JBrowse link
G Pramef27 PRAME family member 27 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:155,752,765...155,759,663
Ensembl chr 5:155,756,015...155,759,663 		JBrowse link
G Pramef8 PRAME family member 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:155,778,156...155,793,935
Ensembl chr 5:155,778,201...155,793,932 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601 		JBrowse link
G Prdm2 PR/SET domain 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:155,421,066...155,531,884
Ensembl chr 5:155,422,134...155,531,825 		JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:165,462,610...165,465,213 JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,497,643...166,500,647
Ensembl chr 5:166,496,755...166,500,611 		JBrowse link
G Rbp7 retinol binding protein 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:159,889,723...159,894,338
Ensembl chr 5:159,889,723...159,894,339 		JBrowse link
G Rcc2 regulator of chromosome condensation 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:152,994,406...153,017,223
Ensembl chr 5:152,993,665...153,017,205 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750 		JBrowse link
G Rere arginine-glutamic acid dipeptide repeats ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:160,765,855...161,097,678
Ensembl chr 5:160,765,934...161,097,677 		JBrowse link
G Rnf186 ring finger protein 186 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,210,492...151,211,716
Ensembl chr 5:151,210,492...151,211,716 		JBrowse link
G Rnf207 ring finger protein 207 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,815,351...162,828,325
Ensembl chr 5:162,815,357...162,828,375 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,723,346...166,726,236
Ensembl chr 5:166,724,984...166,725,751 		JBrowse link
G Rpl22 ribosomal protein L22 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,835,241...162,843,394
Ensembl chr 5:162,833,740...162,843,368
Ensembl chr 7:162,833,740...162,843,368
Ensembl chr 4:162,833,740...162,843,368 		JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,831,681...166,859,805
Ensembl chr 5:166,831,663...166,850,009 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733 		JBrowse link
G Slc25a33 solute carrier family 25 member 33 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:160,195,040...160,219,961
Ensembl chr 5:160,195,042...160,219,961 		JBrowse link
G Slc25a34 solute carrier family 25, member 34 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,932,081...153,936,854 JBrowse link
G Slc2a5 solute carrier family 2 member 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:160,583,055...160,609,994
Ensembl chr 5:160,583,234...160,611,106 		JBrowse link
G Slc2a7 solute carrier family 2 member 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:160,624,793...160,643,994
Ensembl chr 5:160,624,793...160,643,514 		JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021 		JBrowse link
G Slc45a1 solute carrier family 45, member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:161,105,137...161,129,375
Ensembl chr 5:161,105,235...161,129,303 		JBrowse link
G Slc66a1 solute carrier family 66 member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,537,870...151,552,259
Ensembl chr 5:151,542,376...151,552,259 		JBrowse link
G Smim1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:164,579,327...164,584,650 JBrowse link
G Spata21 spermatogenesis associated 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,393,309...153,419,430
Ensembl chr 5:153,393,365...153,418,561 		JBrowse link
G Spen spen family transcriptional repressor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,775,287...153,848,677
Ensembl chr 5:153,776,234...153,848,811 		JBrowse link
G Spsb1 splA/ryanodine receptor domain and SOCS box containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:160,358,292...160,418,541
Ensembl chr 5:160,358,308...160,418,468 		JBrowse link
G Srarp steroid receptor associated and regulated protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,740,973...153,745,077
Ensembl chr 5:153,740,975...153,744,998 		JBrowse link
G Srm spermidine synthase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:159,025,875...159,029,076
Ensembl chr 5:159,025,873...159,029,405 		JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429 		JBrowse link
G Szrd1 SUZ RNA binding domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,418,748...153,443,286
Ensembl chr 5:153,418,748...153,443,252 		JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tas1r1 taste 1 receptor member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,533,838...162,546,408
Ensembl chr 5:162,533,841...162,545,562 		JBrowse link
G Tas1r2 taste 1 receptor member 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,909,617...151,925,760
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742 		JBrowse link
G Thap3 THAP domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,488,480...162,494,149
Ensembl chr 5:162,488,480...162,494,149 		JBrowse link
G Tmco4 transmembrane and coiled-coil domains 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,216,499...151,294,726
Ensembl chr 5:151,216,812...151,294,723 		JBrowse link
G Tmem201 transmembrane protein 201 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:160,166,240...160,188,874
Ensembl chr 5:160,166,427...160,188,843 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636 		JBrowse link
G Tmem51 transmembrane protein 51 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:154,325,853...154,375,882
Ensembl chr 5:154,325,856...154,375,882 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:166,048,669...166,050,423
Ensembl chr 5:166,046,565...166,050,433 		JBrowse link
G Tmem82 transmembrane protein 82 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,927,486...153,931,942
Ensembl chr 5:153,927,471...153,936,979 		JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Tnfrsf25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,621,669...162,626,341
Ensembl chr 5:162,622,075...162,626,341 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421 		JBrowse link
G Tnfrsf9 TNF receptor superfamily member 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:161,381,662...161,408,003
Ensembl chr 5:161,381,662...161,408,000 		JBrowse link
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
G Tprg1l tumor protein p63 regulated 1-like ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804 		JBrowse link
G Ube4b ubiquitination factor E4B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:159,766,829...159,870,509
Ensembl chr 5:159,766,829...159,870,509 		JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:158,856,582...158,880,490
Ensembl chr 5:158,868,672...158,880,271 		JBrowse link
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:151,635,825...151,743,931
Ensembl chr 5:151,635,868...151,743,784 		JBrowse link
G Ubxn10 UBX domain protein 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:150,953,772...150,959,608
Ensembl chr 5:150,950,731...150,959,744 		JBrowse link
G Uts2 urotensin 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237 		JBrowse link
G Vamp3 vesicle-associated membrane protein 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:161,498,109...161,508,704
Ensembl chr 5:161,498,109...161,508,751 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637 		JBrowse link
G Wrap73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643 		JBrowse link
G Zbtb17 zinc finger and BTB domain containing 17 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:153,753,508...153,774,613
Ensembl chr 5:153,753,569...153,774,609 		JBrowse link
G Zbtb48 zinc finger and BTB domain containing 48 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:162,525,234...162,533,604
Ensembl chr 5:162,525,235...162,533,585 		JBrowse link
chromosome 1q21.1 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017 		JBrowse link
G Bcl9 BCL9, transcription coactivator ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595 		JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 2:185,197,184...185,249,699
Ensembl chr 2:185,222,204...185,249,693 		JBrowse link
G Gja5 gap junction protein, alpha 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952 		JBrowse link
G Gja8 gap junction protein, alpha 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome		 CTD
ClinVar		 PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
G Gpr89b G protein-coupled receptor 89B ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 2:184,408,136...184,445,560
Ensembl chr 2:184,401,438...184,445,584 		JBrowse link
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 2:185,257,218...185,272,846
Ensembl chr 2:185,257,213...185,269,872 		JBrowse link
chromosome 1q41-q42 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53bp2 tumor protein p53 binding protein, 2 ISS OMIM:612530 MouseDO NCBI chr13:94,088,769...94,145,436
Ensembl chr13:94,088,709...94,145,432 		JBrowse link
chromosome 22q11.2 deletion syndrome, distal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:28492532 NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745 		JBrowse link
G Aifm3 apoptosis inducing factor, mitochondria associated 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016 		JBrowse link
G C11h22orf39 similar to human chromosome 22 open reading frame 39 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235 		JBrowse link
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr11:83,842,707...83,850,607
Ensembl chr11:83,845,557...83,850,607 		JBrowse link
G Ccdc188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502 		JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846 		JBrowse link
G Gnaz G protein subunit alpha z ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr20:13,643,473...13,694,240
Ensembl chr20:13,644,640...13,669,907 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126 		JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr11:83,737,075...83,789,554
Ensembl chr11:83,738,874...83,767,484 		JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529 		JBrowse link
G Iglc1 immunoglobulin lambda constant 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr11:81,947,966...81,949,822
Ensembl chr11:81,947,934...81,949,822 		JBrowse link
G Igll1 immunoglobulin lambda-like polypeptide 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr11:84,138,847...84,142,238
Ensembl chr11:84,138,910...84,142,216 		JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770 		JBrowse link
G LOC120095536 protein FAM246A-like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,150,952...83,151,644
Ensembl chr11:83,150,952...83,151,644 		JBrowse link
G Lrrc74b leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362 		JBrowse link
G Mir1306 microRNA 1306 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719 		JBrowse link
G Mir130b microRNA 130b ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244 		JBrowse link
G Mir185 microRNA 185 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr11:83,897,719...83,920,970
Ensembl chr11:83,897,764...83,922,144 		JBrowse link
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent, 1F ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr11:84,064,422...84,094,410
Ensembl chr11:84,064,420...84,094,340 		JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Rab36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr20:13,606,700...13,624,304
Ensembl chr20:13,608,136...13,624,170 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838 		JBrowse link
G Rimbp3 RIMS binding protein 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr11:83,783,816...83,789,391
Ensembl chr11:83,784,244...83,789,082 		JBrowse link
G Rsph14 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr20:13,627,495...13,703,447
Ensembl chr20:13,629,000...13,703,449 		JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,844,309...82,869,251
Ensembl chr11:82,844,309...82,869,466 		JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348 		JBrowse link
G Sdf2l1 stromal cell-derived factor 2-like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr11:83,872,659...83,874,902
Ensembl chr11:83,872,659...83,874,902 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781 		JBrowse link
G Slc7a4 solute carrier family 7, member 4 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958 		JBrowse link
G Snora77b small nucleolar RNA, H/ACA box 77B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436 		JBrowse link
G Tmem191c transmembrane protein 191C ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr11:83,726,155...83,728,926
Ensembl chr11:83,725,185...83,730,172 		JBrowse link
G Top3b DNA topoisomerase III beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr11:84,097,018...84,125,474
Ensembl chr11:84,097,026...84,125,392 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336 		JBrowse link
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:83,086,578...83,087,933 JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
G Ube2l3 ubiquitin-conjugating enzyme E2L 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr11:83,797,722...83,838,862
Ensembl chr11:83,797,722...83,838,862 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087 		JBrowse link
G Vpreb1a V-set pre-B cell surrogate light chain 1A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr11:84,126,969...84,127,846
Ensembl chr11:84,126,969...84,127,846 		JBrowse link
G Wfdc21 WAP four-disulfide core domain 21 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701 		JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr11:83,832,177...83,844,691
Ensembl chr11:83,841,306...83,846,336 		JBrowse link
G Ypel1 yippee-like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr11:83,921,799...83,936,409 JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734 		JBrowse link
G Zfp280b zinc finger protein 280B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr20:12,627,106...12,641,943
Ensembl chr20:12,627,106...12,646,683 		JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761 		JBrowse link
chromosome 22q11.2 microduplication syndrome term browser
Symbol Object Name Qualifiers 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 chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805 		JBrowse link
G C11h22orf39 similar to human chromosome 22 open reading frame 39 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235 		JBrowse link
G Ccdc188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502 		JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126 		JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529 		JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770 		JBrowse link
G LOC120095536 protein FAM246A-like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,150,952...83,151,644
Ensembl chr11:83,150,952...83,151,644 		JBrowse link
G Lrrc74b leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362 		JBrowse link
G Mir1306 microRNA 1306 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719 		JBrowse link
G Mir185 microRNA 185 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838 		JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,844,309...82,869,251
Ensembl chr11:82,844,309...82,869,466 		JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781 		JBrowse link
G Slc7a4 solute carrier family 7, member 4 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958 		JBrowse link
G Snora77b small nucleolar RNA, H/ACA box 77B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336 		JBrowse link
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:83,086,578...83,087,933 JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087 		JBrowse link
G Wfdc21 WAP four-disulfide core domain 21 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701 		JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734 		JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761 		JBrowse link
chromosome 2p16.1-p15 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp34 ubiquitin specific peptidase 34 ISO ClinVar Annotator: match by term: Chromosome 2p16.1-p15 deletion syndrome ClinVar NCBI chr14:97,285,799...97,476,376
Ensembl chr14:97,286,018...97,476,376 		JBrowse link
CHROMOSOME 2p16.3 DELETION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrxn1 neurexin 1 susceptibility ISO ClinVar Annotator: match by term: Chromosome 2p16.3 deletion syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:18179900 PMID:18945720 PMID:21681106 PMID:23495017 PMID:25741868 More... NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710 		JBrowse link
chromosome 2q37 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Ankmy1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,423,664...93,476,651
Ensembl chr 9:93,423,963...93,477,236 		JBrowse link
G Ano7 anoctamin 7 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,917,524...93,945,323
Ensembl chr 9:93,917,524...93,945,323 		JBrowse link
G Aqp12a aquaporin 12A ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,554,527...93,560,011
Ensembl chr 9:93,554,527...93,560,011 		JBrowse link
G Asb1 ankyrin repeat and SOCS box-containing 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:92,120,332...92,140,790
Ensembl chr 9:92,120,306...92,136,376 		JBrowse link
G Atg4b autophagy related 4B, cysteine peptidase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:94,282,417...94,314,109
Ensembl chr 9:94,282,509...94,314,103 		JBrowse link
G Bok BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:94,223,493...94,234,476
Ensembl chr 9:94,223,389...94,234,476 		JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Cops8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:91,207,427...91,217,258
Ensembl chr 9:91,207,395...91,217,258 		JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,209,843...93,214,774
Ensembl chr 9:93,209,843...93,213,317 		JBrowse link
G Crocc2 ciliary rootlet coiled-coil, rootletin family member 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,708,786...93,769,617
Ensembl chr 9:93,708,684...93,769,402 		JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382 		JBrowse link
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:94,315,552...94,324,386
Ensembl chr 9:94,315,552...94,324,870 		JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,472,832...93,474,207 JBrowse link
G Erfe erythroferrone ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:91,956,971...91,964,846
Ensembl chr 9:91,956,977...91,964,846 		JBrowse link
G Espnl espin-like ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:91,912,038...91,936,803
Ensembl chr 9:91,912,049...91,935,292 		JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome		 CTD
ClinVar		 PMID:19365831 PMID:25741868 NCBI chr 9:94,053,650...94,161,982
Ensembl chr 9:94,053,726...94,162,212 		JBrowse link
G Gal3st2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:94,382,456...94,387,990 JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,396,234...93,424,047
Ensembl chr 9:93,396,234...93,424,047 		JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,527,165...93,539,573
Ensembl chr 9:93,527,127...93,539,299 		JBrowse link
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome		 CTD
ClinVar		 PMID:11486037 PMID:20691407 PMID:23188045 PMID:24715439 PMID:25741868 More... NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hdlbp high density lipoprotein binding protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome		 CTD
ClinVar		 PMID:19365831 PMID:25741868 NCBI chr 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048 		JBrowse link
G Hes6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:92,001,849...92,003,562
Ensembl chr 9:92,001,841...92,003,559 		JBrowse link
G Ilkap ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:91,966,440...91,988,791
Ensembl chr 9:91,966,441...91,988,892 		JBrowse link
G Ing5 inhibitor of growth family, member 5 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:94,326,549...94,343,392
Ensembl chr 9:94,326,548...94,344,220 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Klhl30 kelch-like family member 30 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:91,942,475...91,952,756
Ensembl chr 9:91,942,504...91,952,730 		JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:91,592,032...91,720,250
Ensembl chr 9:91,643,197...91,720,250 		JBrowse link
G Mab21l4 mab-21 like 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,690,455...93,701,267
Ensembl chr 9:93,690,999...93,700,506 		JBrowse link
G Mlph melanophilin ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983 		JBrowse link
G Mterf4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,834,162...93,838,838
Ensembl chr 9:93,834,144...93,838,864 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560 		JBrowse link
G Neu4 neuraminidase 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:94,396,920...94,402,576
Ensembl chr 9:94,396,920...94,402,576 		JBrowse link
G Or6b2 olfactory receptor family 6 subfamily B member 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,048,475...93,049,413
Ensembl chr 9:93,045,014...93,053,641 		JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,216,948...93,220,614
Ensembl chr 9:93,216,948...93,218,466 		JBrowse link
G Pask PAS domain containing serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome		 CTD
ClinVar		 PMID:19365831 PMID:25741868 NCBI chr 9:93,844,275...93,886,036
Ensembl chr 9:93,844,278...93,885,111 		JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937 		JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459 		JBrowse link
G Ppp1r7 protein phosphatase 1, regulatory subunit 7 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,886,068...93,911,198
Ensembl chr 9:93,886,143...93,914,850 		JBrowse link
G Prlh prolactin releasing hormone ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:91,543,128...91,549,022
Ensembl chr 9:91,547,901...91,548,818 		JBrowse link
G Rab17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:91,552,924...91,566,759
Ensembl chr 9:91,553,464...91,566,451 		JBrowse link
G Ramp1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:91,765,481...91,816,152
Ensembl chr 9:91,781,285...91,816,151 		JBrowse link
G Rbm44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:91,731,153...91,756,783
Ensembl chr 9:91,731,115...91,756,772 		JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,476,600...93,486,331
Ensembl chr 9:93,472,390...93,486,331 		JBrowse link
G Scly selenocysteine lyase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:91,890,269...91,910,947
Ensembl chr 9:91,890,306...91,910,941 		JBrowse link
G Septin2 septin 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:94,018,141...94,051,386
Ensembl chr 9:94,018,208...94,051,386 		JBrowse link
G Sned1 sushi, nidogen and EGF-like domains 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:93,774,087...93,834,003
Ensembl chr 9:93,774,119...93,830,694 		JBrowse link
G Stk25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:94,161,834...94,174,095
Ensembl chr 9:94,161,836...94,174,244 		JBrowse link
G Thap4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:94,242,581...94,282,312
Ensembl chr 9:94,242,581...94,282,306 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977 		JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222 		JBrowse link
G Ube2f ubiquitin-conjugating enzyme E2F (putative) ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:91,845,975...91,881,145
Ensembl chr 9:91,845,987...91,880,594 		JBrowse link
Chromosome 3, Monosomy 3p25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav3 caveolin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Oxtr oxytocin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G Srgap3 SLIT-ROBO Rho GTPase activating protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chr 4:145,839,369...146,070,556
Ensembl chr 4:145,840,078...146,070,575 		JBrowse link
chromosome 3q29 microdeletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep19 centrosomal protein 19 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,677,869...68,687,117
Ensembl chr11:68,677,871...68,687,022 		JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,911,883...69,103,230
Ensembl chr11:68,911,883...69,102,689 		JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499 		JBrowse link
G Fbxo45 F-box protein 45 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,551,430...68,567,053
Ensembl chr11:68,551,122...68,566,800 		JBrowse link
G Meltf melanotransferrin ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,884,446...68,906,300
Ensembl chr11:68,884,446...68,906,300 		JBrowse link
G Ncbp2 nuclear cap binding protein subunit 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,821,026...68,829,863
Ensembl chr11:68,817,740...68,851,885 		JBrowse link
G Ncbp2as2 NCBP2 antisense 2 (head to head) ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,829,950...68,830,715
Ensembl chr11:68,829,983...68,830,708 		JBrowse link
G Nrros negative regulator of reactive oxygen species ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,628,641...68,646,152
Ensembl chr11:68,628,712...68,646,142 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,707,940...68,768,816
Ensembl chr11:68,707,969...68,768,816 		JBrowse link
G Pcyt1a phosphate cytidylyltransferase 1A, choline ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,313,860...68,357,828
Ensembl chr11:68,313,882...68,357,357 		JBrowse link
G Pigx phosphatidylinositol glycan anchor biosynthesis, class X ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,687,126...68,703,067
Ensembl chr11:68,687,093...68,703,472 		JBrowse link
G Pigz phosphatidylinositol glycan anchor biosynthesis, class Z ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,831,847...68,851,798 JBrowse link
G Rnf168 ring finger protein 168 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,486,313...68,508,296
Ensembl chr11:68,486,321...68,508,277 		JBrowse link
G Senp5 SUMO specific peptidase 5 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,784,699...68,819,569
Ensembl chr11:68,784,957...68,819,562 		JBrowse link
G Slc51a solute carrier family 51 member A ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485 		JBrowse link
G Smco1 single-pass membrane protein with coiled-coil domains 1 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,512,113...68,514,999
Ensembl chr11:68,509,150...68,515,003 		JBrowse link
G Tfrc transferrin receptor ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Tm4sf19 transmembrane 4 L six family member 19 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,372,945...68,386,192
Ensembl chr11:68,371,647...68,384,591 		JBrowse link
G Tnk2 tyrosine kinase, non-receptor, 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009 		JBrowse link
G Ubxn7 UBX domain protein 7 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,427,896...68,460,100 JBrowse link
G Wdr53 WD repeat domain 53 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,542,647...68,551,148
Ensembl chr11:68,542,650...68,551,112 		JBrowse link
G Zdhhc19 zinc finger DHHC-type palmitoyltransferase 19 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,277,847...68,289,110
Ensembl chr11:68,277,848...68,288,954 		JBrowse link
chromosome 4q21 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abraxas1 abraxas 1, BRCA1 A complex subunit ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:8,796,281...8,810,625
Ensembl chr14:8,796,266...8,810,622 		JBrowse link
G Cds1 CDP-diacylglycerol synthase 1 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:7,820,328...7,882,943
Ensembl chr14:7,820,351...7,882,681 		JBrowse link
G Cops4 COP9 signalosome subunit 4 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:9,078,579...9,108,788
Ensembl chr14:9,078,576...9,108,887 		JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891 		JBrowse link
G Enoph1 enolase-phosphatase 1 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:9,531,336...9,557,797
Ensembl chr14:9,531,339...9,569,273 		JBrowse link
G Gpat3 glycerol-3-phosphate acyltransferase 3 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:8,715,367...8,768,051
Ensembl chr14:8,714,373...8,766,490 		JBrowse link
G Helq helicase, POLQ-like ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:8,818,582...8,862,926
Ensembl chr14:8,818,592...8,862,960 		JBrowse link
G Hnrnpd heterogeneous nuclear ribonucleoprotein D ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:9,615,375...9,638,975
Ensembl chr14:9,615,479...9,633,786 		JBrowse link
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:9,557,430...9,563,659
Ensembl chr14:9,557,425...9,562,506 		JBrowse link
G Hpse heparanase ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:8,896,593...8,937,011
Ensembl chr14:8,896,593...8,937,010 		JBrowse link
G Lin54 lin-54 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:9,129,775...9,188,244
Ensembl chr14:9,130,336...9,187,790 		JBrowse link
G Mrps18c mitochondrial ribosomal protein S18C ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:8,812,301...8,818,538
Ensembl chr14:8,791,330...8,818,516 		JBrowse link
G Nkx6-1 NK6 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:7,969,756...7,976,689
Ensembl chr14:7,969,756...7,976,681 		JBrowse link
G Plac8 placenta associated 8 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:9,052,601...9,074,264
Ensembl chr14:9,063,048...9,074,264 		JBrowse link
G Sec31a SEC31 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:9,214,324...9,269,281
Ensembl chr14:9,214,349...9,269,273 		JBrowse link
G Tmem150c transmembrane protein 150C ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:9,454,999...9,525,300
Ensembl chr14:9,508,515...9,525,298 		JBrowse link
Chromosome 5, Trisomy 5q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdhr2 cadherin-related family member 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,876,853...9,913,356
Ensembl chr17:9,876,860...9,912,575 		JBrowse link
G Eif4e1b eukaryotic translation initiation factor 4E family member 1B ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,831,338...9,856,250
Ensembl chr17:9,832,230...9,835,137 		JBrowse link
G Faf2 Fas associated factor family member 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,947,211...9,989,474
Ensembl chr17:9,947,220...9,989,485 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242 		JBrowse link
G Gprin1 G protein-regulated inducer of neurite outgrowth 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,863,881...9,876,832
Ensembl chr17:9,863,571...9,876,915 		JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,596,950...9,614,847
Ensembl chr17:9,599,865...9,614,863 		JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,269,236...9,286,923
Ensembl chr17:9,269,022...9,287,265 		JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,301,430...9,305,156
Ensembl chr17:9,301,399...9,305,157 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358 		JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,305,349...9,308,389
Ensembl chr17:9,305,361...9,308,407 		JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,308,471...9,310,553
Ensembl chr17:9,308,525...9,310,553 		JBrowse link
G Rgs14 regulator of G-protein signaling 14 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,248,982...9,263,104
Ensembl chr17:9,249,019...9,263,104 		JBrowse link
G Rnf44 ring finger protein 44 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,919,982...9,934,376
Ensembl chr17:9,919,993...9,932,193 		JBrowse link
G Sncb synuclein, beta ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
G Tspan17 tetraspanin 17 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,819,212...9,826,851
Ensembl chr17:9,819,202...9,826,834 		JBrowse link
G Uimc1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,523,793...9,592,810
Ensembl chr17:9,527,794...9,592,799 		JBrowse link
G Unc5a unc-5 netrin receptor A ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,614,841...9,670,558
Ensembl chr17:9,614,838...9,670,526 		JBrowse link
G Zfp346 zinc finger protein 346 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,493,787...9,523,681
Ensembl chr17:9,493,803...9,523,635 		JBrowse link
chromosome 5q deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef1d eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Chromosome 5q deletion syndrome ClinVar PMID:25741905 NCBI chr 7:107,581,930...107,596,735
Ensembl chr 7:107,581,930...107,608,799 		JBrowse link
G Klf1 KLF transcription factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758 		JBrowse link
G Rps14 ribosomal protein S14 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr18:54,227,854...54,232,638
Ensembl chr18:54,227,854...54,233,166 		JBrowse link
chromosome 6q24-q25 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap12 A-kinase anchoring protein 12 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:40,730,123...40,819,863
Ensembl chr 1:40,730,123...40,819,886 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Armt1 acidic residue methyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:40,894,558...40,918,302
Ensembl chr 1:40,894,550...40,918,302 		JBrowse link
G Ccdc170 coiled-coil domain containing 170 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:40,945,607...41,050,010
Ensembl chr 1:40,945,961...41,085,040 		JBrowse link
G Cldn20 claudin 20 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:44,133,769...44,134,428
Ensembl chr 1:44,133,769...44,134,428 		JBrowse link
G Cnksr3 Cnksr family member 3 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:43,499,273...43,591,630
Ensembl chr 1:43,499,487...43,591,635 		JBrowse link
G Dynlt1 dynein light chain Tctex-type 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:46,887,017...46,893,956
Ensembl chr 1:46,887,017...46,893,881 		JBrowse link
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Ezr ezrin ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:46,967,961...47,011,505
Ensembl chr 1:46,967,658...47,011,505 		JBrowse link
G Fbxo5 F-box protein 5 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:42,196,068...42,202,437
Ensembl chr 1:42,196,068...42,202,437 		JBrowse link
G Fndc1 fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:47,281,839...47,364,247
Ensembl chr 1:47,281,844...47,364,259 		JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939 		JBrowse link
G Ipcef1 interaction protein for cytohesin exchange factors 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:43,237,903...43,451,735
Ensembl chr 1:43,269,202...43,427,969 		JBrowse link
G Iyd iodotyrosine deiodinase ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:40,003,999...40,019,323
Ensembl chr 1:40,004,041...40,019,319 		JBrowse link
G Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:40,443,926...40,632,911
Ensembl chr 1:40,444,008...40,632,905 		JBrowse link
G Mtrf1l mitochondrial translation release factor 1 like ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:42,208,553...42,221,020
Ensembl chr 1:42,210,583...42,220,836 		JBrowse link
G Myct1 myc target 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:42,018,137...42,029,410
Ensembl chr 1:42,018,137...42,029,410 		JBrowse link
G Nox3 NADPH oxidase 3 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:44,238,012...44,302,851
Ensembl chr 1:44,236,992...44,302,851 		JBrowse link
G Oprm1 opioid receptor, mu 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409 		JBrowse link
G Plekhg1 pleckstrin homology and RhoGEF domain containing G1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:40,348,684...40,434,063
Ensembl chr 1:40,311,221...40,434,063 		JBrowse link
G Rgs17 regulator of G-protein signaling 17 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:42,222,248...42,324,625
Ensembl chr 1:42,227,070...42,324,609 		JBrowse link
G Rmnd1 required for meiotic nuclear division 1 homolog ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:40,859,829...40,894,376
Ensembl chr 1:40,859,829...40,894,314 		JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232 		JBrowse link
G Scaf8 SR-related CTD-associated factor 8 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:43,727,686...43,855,889
Ensembl chr 1:43,727,794...43,804,977 		JBrowse link
G Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727 		JBrowse link
G Snord28b small nucleolar RNA, C/D box 28B ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:205,620,424...205,620,501
Ensembl chr 1:205,620,424...205,620,501 		JBrowse link
G Snx9 sorting nexin 9 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:46,424,897...46,510,096
Ensembl chr 1:46,423,553...46,509,036 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
G Synj2 synaptojanin 2 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:46,518,594...46,621,919
Ensembl chr 1:46,518,709...46,633,687 		JBrowse link
G Sytl3 synaptotagmin-like 3 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:46,896,308...46,967,461
Ensembl chr 1:46,911,217...46,967,460 		JBrowse link
G Tagap T-cell activation RhoGTPase activating protein ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:47,170,725...47,179,705
Ensembl chr 1:47,170,725...47,179,792 		JBrowse link
G Tfb1m transcription factor B1, mitochondrial ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:44,115,240...44,161,737
Ensembl chr 1:44,119,166...44,161,709 		JBrowse link
G Tiam2 TIAM Rac1 associated GEF 2 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:43,918,179...44,119,499
Ensembl chr 1:43,918,174...44,119,493 		JBrowse link
G Tmem181 transmembrane protein 181 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:46,830,812...46,885,173
Ensembl chr 1:46,830,710...46,884,295 		JBrowse link
G Tmem242 transmembrane protein 242 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:45,992,713...46,019,684
Ensembl chr 1:45,992,713...46,019,626 		JBrowse link
G Tulp4 TUB like protein 4 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:46,682,416...46,813,167
Ensembl chr 1:46,682,863...46,809,688 		JBrowse link
G Vip vasoactive intestinal peptide ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216 		JBrowse link
G Zbtb2 zinc finger and BTB domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:40,827,457...40,846,733
Ensembl chr 1:40,827,457...40,846,594 		JBrowse link
G Zdhhc14 zinc finger DHHC-type palmitoyltransferase 14 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr 1:46,069,127...46,340,806
Ensembl chr 1:46,069,127...46,330,488 		JBrowse link
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptr Alu-mediated CDKN1A/p21 transcriptional regulator ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 4:14,138,275...14,139,577 JBrowse link
G Ccdc146 coiled-coil domain containing 146 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 4:13,662,766...13,811,619
Ensembl chr 4:13,662,766...13,811,608 		JBrowse link
G Ccl24 C-C motif chemokine ligand 24 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893 		JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335 		JBrowse link
G Dtx2 deltex E3 ubiquitin ligase 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,643,289...20,682,908
Ensembl chr12:20,643,297...20,682,885 		JBrowse link
G Fgl2 fibrinogen-like 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 4:13,710,566...13,716,207
Ensembl chr 4:13,710,575...13,716,207 		JBrowse link
G Gsap gamma-secretase activating protein ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 4:13,813,046...13,907,875
Ensembl chr 4:13,813,046...13,907,814 		JBrowse link
G Hip1 huntingtin interacting protein 1 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:21,133,364...21,267,796
Ensembl chr12:21,133,406...21,267,725 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 4:14,386,389...15,870,036
Ensembl chr 4:14,386,399...15,870,240 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Phtf2 putative homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 4:14,215,190...14,330,549
Ensembl chr 4:14,215,263...14,330,513 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Ptpn12 protein tyrosine phosphatase, non-receptor type 12 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 4:14,020,997...14,092,931
Ensembl chr 4:14,021,052...14,092,927 		JBrowse link
G Rcc1l RCC1 like ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:22,543,125...22,574,042
Ensembl chr12:22,543,734...22,574,036 		JBrowse link
G Rhbdd2 rhomboid domain containing 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:21,043,605...21,054,305
Ensembl chr12:21,043,608...21,054,289 		JBrowse link
G Rsbn1l round spermatid basic protein 1-like ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 4:14,138,076...14,203,972
Ensembl chr 4:14,139,031...14,201,147 		JBrowse link
G Srrm3 serine/arginine repetitive matrix 3 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,808,878...20,878,557
Ensembl chr12:20,809,089...20,878,505 		JBrowse link
G Ssc4d scavenger receptor cysteine rich family member with 4 domains ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,702,931...20,723,732
Ensembl chr12:20,702,950...20,718,706 		JBrowse link
G Styxl1 serine/threonine/tyrosine interacting-like 1 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,907,410...20,940,232
Ensembl chr12:20,907,435...20,939,752 		JBrowse link
G Tmem120a transmembrane protein 120A ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,942,243...20,950,908
Ensembl chr12:20,942,439...20,990,316 		JBrowse link
G Tmem60 transmembrane protein 60 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 4:14,210,029...14,214,884
Ensembl chr 4:14,210,029...14,215,063 		JBrowse link
G Upk3b uroplakin 3B ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,630,231...20,637,634
Ensembl chr12:20,631,525...20,637,724 		JBrowse link
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827 		JBrowse link
G Zp3 zona pellucida glycoprotein 3 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,690,547...20,697,513
Ensembl chr12:20,690,547...20,697,513 		JBrowse link
chromosome 9p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:226,737,472...226,764,647
Ensembl chr 1:226,739,318...226,764,625 		JBrowse link
G Brd10 bromodomain containing 10 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,490,983...227,572,246
Ensembl chr 1:227,491,839...227,571,330 		JBrowse link
G Cd274 CD274 molecule ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450 		JBrowse link
G Cdc37l1 cell division cycle 37-like 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:226,705,019...226,733,994
Ensembl chr 1:226,705,003...226,761,175 		JBrowse link
G Dmac1 distal membrane arm assembly component 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 5:89,241,173...89,243,793
Ensembl chr 5:89,242,661...89,243,757 		JBrowse link
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333 		JBrowse link
G Dmrt2 doublesex and mab-3 related transcription factor 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:223,317,543...223,324,131
Ensembl chr 1:223,317,642...223,324,131 		JBrowse link
G Dmrt3 doublesex and mab-3 related transcription factor 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:223,244,340...223,264,254
Ensembl chr 1:223,248,747...223,262,530 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474 		JBrowse link
G Ermp1 endoplasmic reticulum metallopeptidase 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,383,992...227,422,120
Ensembl chr 1:227,387,920...227,436,909 		JBrowse link
G Foxd4 forkhead box D4 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:222,557,494...222,559,189
Ensembl chr 1:222,557,360...222,559,159 		JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISS OMIM:158170 MouseDO NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097 		JBrowse link
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899 		JBrowse link
G Il33 interleukin 33 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373 		JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493 		JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062 		JBrowse link
G Kdm4c lysine demethylase 4C ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818 		JBrowse link
G Mir101-2 microRNA 101-2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:226,860,371...226,860,467
Ensembl chr 1:226,860,371...226,860,467 		JBrowse link
G Mlana melan-A ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,469,537...227,483,343
Ensembl chr 1:227,469,537...227,483,343 		JBrowse link
G Pdcd1lg2 programmed cell death 1 ligand 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,158,941...227,223,938
Ensembl chr 1:227,158,941...227,223,938 		JBrowse link
G Plgrkt plasminogen receptor with a C-terminal lysine ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,099,005...227,111,277
Ensembl chr 1:227,099,015...227,111,194 		JBrowse link
G Plpp6 phospholipid phosphatase 6 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:226,679,100...226,681,952
Ensembl chr 1:226,679,100...226,681,949 		JBrowse link
G Ptprd protein tyrosine phosphatase, receptor type, D ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 5:90,046,993...90,698,977
NCBI chr 5:91,122,354...91,641,754
Ensembl chr 5:90,048,966...92,369,396 		JBrowse link
G Pum3 pumilio RNA-binding family member 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:225,074,332...225,113,995
Ensembl chr 1:225,074,333...225,114,025 		JBrowse link
G Ranbp6 RAN binding protein 6 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,572,394...227,576,915
Ensembl chr 1:227,572,105...227,576,942 		JBrowse link
G Rcl1 RNA terminal phosphate cyclase-like 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:226,824,561...226,869,046
Ensembl chr 1:226,824,534...226,902,315 		JBrowse link
G Rfx3 regulatory factor X3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:225,449,872...225,709,622
Ensembl chr 1:225,456,187...225,709,402 		JBrowse link
G Ric1 RIC1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,285,510...227,384,553
Ensembl chr 1:227,285,210...227,382,863 		JBrowse link
G Rln1 relaxin 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,079,960...227,082,960
Ensembl chr 1:227,079,966...227,082,882 		JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Spata6l spermatogenesis associated 6-like ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:226,630,470...226,682,979
Ensembl chr 1:226,641,518...226,682,884 		JBrowse link
G Tpd52l3 TPD52 like 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,781,173...227,785,040
Ensembl chr 1:227,773,724...227,784,467 		JBrowse link
G Uhrf2 ubiquitin like with PHD and ring finger domains 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,814,639...227,877,907
Ensembl chr 1:227,814,963...227,877,904 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
G Washc1 WASH complex subunit 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 9:105,722,779...105,830,836
Ensembl chr 9:105,722,899...105,733,009 		JBrowse link
G Zng1a Zn regulated GTPase metalloprotein activator 1A ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:222,568,278...222,612,937
Ensembl chr 1:222,564,545...222,610,629 		JBrowse link
Cri-du-Chat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12629597 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
Deafness, with Smith-Magenis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome ClinVar PMID:11735029 PMID:17546645 PMID:19274735 PMID:24033266 PMID:28492532 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340 		JBrowse link
DiGeorge syndrome term browser
Symbol Object Name Qualifiers 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 chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248 		JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO
ISS		 OMIM:188400 MouseDO
RGD		 PMID:12563036 RGD:734550 NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar
RGD		 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... RGD:1578806 NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016 		JBrowse link
G C11h22orf39 similar to human chromosome 22 open reading frame 39 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235 		JBrowse link
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:83,842,707...83,850,607
Ensembl chr11:83,845,557...83,850,607 		JBrowse link
G Ccdc188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619 		JBrowse link
G Chrd chordin ISS OMIM:188400 MouseDO NCBI chr11:80,171,994...80,181,166
Ensembl chr11:80,171,994...80,180,673 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome		 CTD
ClinVar		 PMID:8886163 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:188400
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome		 CTD
MouseDO
ClinVar		 PMID:16399080 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome		 CTD
ClinVar		 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502 		JBrowse link
G Dgcr6 DiGeorge syndrome critical region gene 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome		 CTD
ClinVar		 PMID:31690835 PMID:32581362 NCBI chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823 		JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome		 CTD
ClinVar		 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242 		JBrowse link
G Dicer1 dicer 1 ribonuclease III ISS OMIM:188400 MouseDO NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965 		JBrowse link
G Dock1 dedicator of cyto-kinesis 1 ISS OMIM:188400 MouseDO NCBI chr 1:189,467,143...189,983,777
Ensembl chr 1:189,467,143...189,983,768 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO RGD PMID:8644734 RGD:1580898 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome		 CTD
ClinVar		 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:188400		 CTD
MouseDO		 PMID:16399080 NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Foxn1 forkhead box N1 ISS OMIM:188400 MouseDO NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710 		JBrowse link
G Gnaz G protein subunit alpha z ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr20:13,643,473...13,694,240
Ensembl chr20:13,644,640...13,669,907 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126 		JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:83,737,075...83,789,554
Ensembl chr11:83,738,874...83,767,484 		JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529 		JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104 		JBrowse link
G Hoxa3 homeobox A3 ISS OMIM:188400 MouseDO NCBI chr 4:81,269,243...81,313,218
Ensembl chr 4:81,269,243...81,313,218 		JBrowse link
G Iglc1 immunoglobulin lambda constant 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:81,947,966...81,949,822
Ensembl chr11:81,947,934...81,949,822 		JBrowse link
G Igll1 immunoglobulin lambda-like polypeptide 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:84,138,847...84,142,238
Ensembl chr11:84,138,910...84,142,216 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO
ISS		 OMIM:188400 MouseDO
RGD		 PMID:22921202 RGD:9590333 NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606 		JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770 		JBrowse link
G LOC120095536 protein FAM246A-like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr11:83,150,952...83,151,644
Ensembl chr11:83,150,952...83,151,644 		JBrowse link
G Lrrc74b leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362 		JBrowse link
G Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr 4:154,152,776...154,353,274
Ensembl chr 4:154,153,834...154,302,590 		JBrowse link
G Mir1306 microRNA 1306 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719 		JBrowse link
G Mir130b microRNA 130b ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244 		JBrowse link
G Mir185 microRNA 185 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:188400 MouseDO NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:31690835 PMID:32581362 NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
G Plxnd1 plexin D1 ISS OMIM:188400 MouseDO NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244 		JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:83,897,719...83,920,970
Ensembl chr11:83,897,764...83,922,144 		JBrowse link
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent, 1F ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:84,064,422...84,094,410
Ensembl chr11:84,064,420...84,094,340 		JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Prodh proline dehydrogenase ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Rab36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr20:13,606,700...13,624,304
Ensembl chr20:13,608,136...13,624,170 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838 		JBrowse link
G Rimbp3 RIMS binding protein 3 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:83,783,816...83,789,391
Ensembl chr11:83,784,244...83,789,082 		JBrowse link
G Rsph14 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr20:13,627,495...13,703,447
Ensembl chr20:13,629,000...13,703,449 		JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:82,844,309...82,869,251
Ensembl chr11:82,844,309...82,869,466 		JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348 		JBrowse link
G Sdf2l1 stromal cell-derived factor 2-like 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:83,872,659...83,874,902
Ensembl chr11:83,872,659...83,874,902 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781 		JBrowse link
G Slc7a4 solute carrier family 7, member 4 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:31690835 PMID:32581362 NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958 		JBrowse link
G Snora77b small nucleolar RNA, H/ACA box 77B ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO
ISS		 ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge 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
OMIM:188400
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:11239417 PMID:11242049 PMID:11748311 PMID:14585638 More... RGD:9590333, RGD:1578374, RGD:155641238 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISS OMIM:188400 MouseDO NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:31690835 PMID:32581362 NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436 		JBrowse link
G Tmem191c transmembrane protein 191C ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:83,726,155...83,728,926
Ensembl chr11:83,725,185...83,730,172 		JBrowse link
G Top3b DNA topoisomerase III beta ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:84,097,018...84,125,474
Ensembl chr11:84,097,026...84,125,392 		JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:25197075 RGD:155641238 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336 		JBrowse link
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:83,086,578...83,087,933 JBrowse link
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
G Ube2l3 ubiquitin-conjugating enzyme E2L 3 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:83,797,722...83,838,862
Ensembl chr11:83,797,722...83,838,862 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar
RGD		 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... RGD:1580803 NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144 		JBrowse link
G Vegfa vascular endothelial growth factor A ISS OMIM:188400 MouseDO NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vpreb1a V-set pre-B cell surrogate light chain 1A ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:84,126,969...84,127,846
Ensembl chr11:84,126,969...84,127,846 		JBrowse link
G Wfdc21 WAP four-disulfide core domain 21 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:25516202 PMID:28492532 NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701 		JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:83,832,177...83,844,691
Ensembl chr11:83,841,306...83,846,336 		JBrowse link
G Ypel1 yippee-like 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr11:83,921,799...83,936,409 JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734 		JBrowse link
G Zfp280b zinc finger protein 280B ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr20:12,627,106...12,641,943
Ensembl chr20:12,627,106...12,646,683 		JBrowse link
G Zfp366 zinc finger protein 366 ISS OMIM:188400 MouseDO NCBI chr 2:30,578,552...30,640,546
Ensembl chr 2:30,578,715...30,642,182 		JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761 		JBrowse link
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nebl nebulette ISO ClinVar Annotator: match by term: DiGeorge syndrome/velocardiofacial syndrome complex 2 ClinVar PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More... NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210 		JBrowse link
distal 10q deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam12 ADAM metallopeptidase domain 12 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:188,686,984...189,014,206
Ensembl chr 1:188,686,989...189,020,667 		JBrowse link
G Adam8 ADAM metallopeptidase domain 8 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,776,559...194,789,330
Ensembl chr 1:194,770,060...194,788,801 		JBrowse link
G Adgra1 adhesion G protein-coupled receptor A1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,629,744...194,673,254
Ensembl chr 1:194,629,726...194,672,550 		JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359 		JBrowse link
G C1h10orf90 similar to human chromosome 10 open reading frame 90 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:189,059,744...189,293,353
Ensembl chr 1:189,059,746...189,293,435 		JBrowse link
G Caly calcyon neuron-specific vesicular protein ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,862,671...194,873,861
Ensembl chr 1:194,862,672...194,873,551 		JBrowse link
G Cfap46 cilia and flagella associated protein 46 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,403,212...194,482,790
Ensembl chr 1:194,403,211...194,482,730 		JBrowse link
G Clrn3 clarin 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:190,319,025...190,334,648
Ensembl chr 1:190,319,026...190,334,648 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G Dhx32 DEAH-box helicase 32 (putative) ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:188,524,512...188,577,500
Ensembl chr 1:188,524,512...188,577,500 		JBrowse link
G Dock1 dedicator of cyto-kinesis 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:189,467,143...189,983,777
Ensembl chr 1:189,467,143...189,983,768 		JBrowse link
G Dpysl4 dihydropyrimidinase-like 4 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:193,883,039...193,898,916
Ensembl chr 1:193,883,106...193,898,914 		JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:191,996,726...192,114,593
Ensembl chr 1:191,996,730...192,114,359 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Fank1 fibronectin type III and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:188,577,512...188,685,501
Ensembl chr 1:188,577,575...188,685,504 		JBrowse link
G Foxi2 forkhead box I2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:190,222,857...190,226,657
Ensembl chr 1:190,222,703...190,226,433 		JBrowse link
G Fuom fucose mutarotase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,888,535...194,893,046
Ensembl chr 1:194,886,709...194,893,046 		JBrowse link
G Glrx3 glutaredoxin 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:192,241,707...192,272,012
Ensembl chr 1:192,241,701...192,272,010 		JBrowse link
G Inpp5a inositol polyphosphate-5-phosphatase A ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,190,086...194,380,429
Ensembl chr 1:194,190,393...194,380,428 		JBrowse link
G Insyn2a inhibitory synaptic factor 2A ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:189,697,856...189,753,194
Ensembl chr 1:189,697,878...189,752,922 		JBrowse link
G Jakmip3 janus kinase and microtubule interacting protein 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:193,753,134...193,881,105
Ensembl chr 1:193,811,513...193,881,104 		JBrowse link
G Kndc1 kinase non-catalytic C-lobe domain containing 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,689,962...194,738,353
Ensembl chr 1:194,690,135...194,738,362 		JBrowse link
G Lrrc27 leucine rich repeat containing 27 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,004,967...194,035,087
Ensembl chr 1:194,005,182...194,035,084 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756 		JBrowse link
G Mki67 marker of proliferation Ki-67 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762 		JBrowse link
G Mtg1 mitochondrial ribosome-associated GTPase 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,931,543...194,944,278
Ensembl chr 1:194,931,531...194,944,277 		JBrowse link
G Nkx6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,380,149...194,383,533
Ensembl chr 1:194,381,975...194,383,515 		JBrowse link
G Nps neuropeptide S ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:190,077,040...190,080,821
Ensembl chr 1:190,077,040...190,080,821 		JBrowse link
G Paox polyamine oxidase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,919,655...194,928,498
Ensembl chr 1:194,903,273...194,928,504 		JBrowse link
G Ppp2r2d protein phosphatase 2, regulatory subunit B, delta ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:193,665,918...193,700,277
Ensembl chr 1:193,665,855...193,700,274 		JBrowse link
G Prap1 proline-rich acidic protein 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,883,078...194,886,874
Ensembl chr 1:194,883,078...194,886,872 		JBrowse link
G Ptpre protein tyrosine phosphatase, receptor type, E ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:190,344,331...190,494,815
Ensembl chr 1:190,344,401...190,489,534 		JBrowse link
G Pwwp2b PWWP domain containing 2B ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,040,395...194,059,979
Ensembl chr 1:194,041,341...194,059,958 		JBrowse link
G Sprn shadow of prion protein ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,944,602...194,948,448
Ensembl chr 1:194,943,826...194,948,460 		JBrowse link
G Stk32c serine/threonine kinase 32C ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:193,900,718...193,981,723
Ensembl chr 1:193,900,718...193,981,723 		JBrowse link
G Syce1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:195,852,171...195,863,174
Ensembl chr 1:195,852,172...195,863,174 		JBrowse link
G Tcerg1l transcription elongation regulator 1-like ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:193,012,937...193,201,860
Ensembl chr 1:193,012,937...193,200,913 		JBrowse link
G Tubgcp2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,791,113...194,817,807
Ensembl chr 1:194,792,142...194,817,619 		JBrowse link
G Utf1 undifferentiated embryonic cell transcription factor 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,740,339...194,741,465
Ensembl chr 1:194,740,339...194,741,465 		JBrowse link
G Ventx VENT homeobox ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr  X:86,483,893...86,484,900
Ensembl chr  X:86,483,893...86,484,954 		JBrowse link
G Zfp511 zinc finger protein 511 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,817,697...194,822,102
Ensembl chr 1:194,817,697...194,822,102 		JBrowse link
Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca5 ATP binding cassette subfamily A member 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis		 OMIM
CTD
ClinVar		 PMID:24831815 PMID:25741868 NCBI chr10:95,240,159...95,309,195
Ensembl chr10:95,240,154...95,308,976 		JBrowse link
hereditary nonpolyposis colorectal cancer type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epcam epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 8
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16951683 PMID:19098912 PMID:23462293 PMID:24033266 PMID:24142340 More... NCBI chr 6:6,880,142...6,896,103
Ensembl chr 6:6,878,237...6,896,127 		JBrowse link
Holoprosencephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES ClinVar PMID:25741868 PMID:28492532 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
hypoparathyroidism-deafness-renal disease syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd7 acyl-CoA binding domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,903,936...74,909,977
Ensembl chr17:74,903,177...74,905,811 		JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326 		JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764 		JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873 		JBrowse link
G Akr1e2 aldo-keto reductase family 1, member E2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:65,735,909...65,750,441
Ensembl chr17:65,735,943...65,750,441 		JBrowse link
G Ankrd16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,735,325...66,748,533
Ensembl chr17:66,737,261...66,748,533 		JBrowse link
G Arl5b ADP-ribosylation factor like GTPase 5B ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,955,864...77,979,895
Ensembl chr17:77,955,818...77,979,854 		JBrowse link
G Asb13 ankyrin repeat and SOCS box-containing 13 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,564,653...66,583,365
Ensembl chr17:66,562,434...66,583,337 		JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:68,423,927...68,446,169
Ensembl chr17:68,423,909...68,608,367 		JBrowse link
G Bend7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,483,212...73,566,221
Ensembl chr17:73,485,282...73,567,559 		JBrowse link
G C1ql3 complement C1q like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,119,344...76,129,170
Ensembl chr17:76,119,447...76,128,530 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106 		JBrowse link
G Calml3 calmodulin-like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,419,844...66,423,083
Ensembl chr17:66,419,882...66,423,175 		JBrowse link
G Calml5 calmodulin-like 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,394,433...66,395,352 JBrowse link
G Camk1d calcium/calmodulin-dependent protein kinase ID ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,581,899...72,982,704
Ensembl chr17:72,581,979...72,980,556 		JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,031,891...73,135,173
Ensembl chr17:73,035,045...73,135,337 		JBrowse link
G Cdc123 cell division cycle 123 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,459,270...72,503,316
Ensembl chr17:72,459,282...72,503,316 		JBrowse link
G Cdnf cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,714,564...74,728,639
Ensembl chr17:74,713,564...74,728,639 		JBrowse link
G Celf2 CUGBP, Elav-like family member 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:70,904,462...71,729,072
Ensembl chr17:71,210,853...71,728,333 		JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231 		JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186 		JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723 		JBrowse link
G Echdc3 enoyl CoA hydratase domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,070,697...72,093,519
Ensembl chr17:72,070,668...72,093,516 		JBrowse link
G Fam107b family with sequence similarity 107, member B ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,478,608...74,685,027
Ensembl chr17:74,478,608...74,684,989 		JBrowse link
G Fam171a1 family with sequence similarity 171, member A1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:75,024,582...75,148,348
Ensembl chr17:75,024,575...75,150,255 		JBrowse link
G Fbh1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,749,506...66,787,590
Ensembl chr17:66,749,534...66,787,590 		JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,667,787...74,258,487
Ensembl chr17:73,667,789...74,258,687 		JBrowse link
G Gata3 GATA binding protein 3 ISO
ISS		 OMIM:146255
ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 More... NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391 		JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,649,616...66,676,299
Ensembl chr17:66,649,619...66,676,366 		JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,081,508...77,106,114
Ensembl chr17:77,083,740...77,106,073 		JBrowse link
G Hspa14 heat shock protein family A (Hsp70) member 14 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,728,945...74,749,727
Ensembl chr17:74,728,899...74,749,727 		JBrowse link
G Il15ra interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,802,300...66,831,973
Ensembl chr17:66,802,334...66,832,278 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697 		JBrowse link
G Itga8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:75,304,004...75,501,510
Ensembl chr17:75,304,008...75,501,510 		JBrowse link
G Itih2 inter-alpha-trypsin inhibitor heavy chain 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:68,375,574...68,411,849
Ensembl chr17:68,375,567...68,411,841 		JBrowse link
G Itih5 inter-alpha-trypsin inhibitor heavy chain 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:68,248,115...68,352,216
Ensembl chr17:68,252,128...68,352,207 		JBrowse link
G Kin Kin17 DNA and RNA binding protein ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:68,413,483...68,431,392
Ensembl chr17:68,413,486...68,423,845 		JBrowse link
G Mcm10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,263,788...73,288,346
Ensembl chr17:73,266,095...73,287,364 		JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,810,791...74,828,433
Ensembl chr17:74,814,632...74,828,433 		JBrowse link
G Mindy3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:75,545,286...75,623,884
Ensembl chr17:75,545,286...75,623,854 		JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,341,251...66,370,445
Ensembl chr17:66,340,728...66,370,441 		JBrowse link
G Nmt2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,917,833...74,964,788
Ensembl chr17:74,917,833...74,961,080 		JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001 		JBrowse link
G Olah oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,877,651...74,902,517
Ensembl chr17:74,877,655...74,902,518 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,983,629...67,064,702
Ensembl chr17:66,983,686...67,063,125 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Prkcq protein kinase C, theta ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704 		JBrowse link
G Proser2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,151,961...72,187,524
Ensembl chr17:72,151,872...72,185,825 		JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,630,560...73,661,210
Ensembl chr17:73,630,571...73,690,979 		JBrowse link
G Pter phosphotriesterase related ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,058,388...76,119,633
Ensembl chr17:76,058,503...76,119,627 		JBrowse link
G Rbm17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,937,140...66,954,034
Ensembl chr17:66,937,140...66,954,014 		JBrowse link
G Rpp38 ribonuclease P/MRP subunit p38 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,914,066...74,917,742
Ensembl chr17:74,908,932...74,927,431 		JBrowse link
G Rsu1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,128,774...76,377,515
Ensembl chr17:76,188,812...76,377,454 		JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,407,574...72,445,630
Ensembl chr17:72,407,671...72,434,494 		JBrowse link
G Sephs1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,354,435...73,382,803
Ensembl chr17:73,356,530...73,382,593 		JBrowse link
G Sfmbt2 Scm-like with four mbt domains 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:67,934,296...68,128,905
Ensembl chr17:67,935,904...68,128,781 		JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,353,761...77,440,384
Ensembl chr17:77,353,805...77,440,353 		JBrowse link
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,740,755...76,884,178
Ensembl chr17:76,745,224...76,884,299 		JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,120,235...77,166,173
Ensembl chr17:77,120,158...77,166,467 		JBrowse link
G Suv39h2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,756,290...74,775,332
Ensembl chr17:74,756,306...74,775,332 		JBrowse link
G Taf3 TATA-box binding protein associated factor 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:68,455,389...68,608,367
Ensembl chr17:68,423,909...68,608,367 		JBrowse link
G Tasor2 transcription activation suppressor family member 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,583,554...66,650,127
Ensembl chr17:66,594,908...66,649,135 		JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,601,966...76,646,104
Ensembl chr17:76,610,543...76,645,439 		JBrowse link
G Tubal3 tubulin, alpha-like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,323,733...66,332,423
Ensembl chr17:66,323,733...66,335,355 		JBrowse link
G Ucma upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,293,977...73,303,709
Ensembl chr17:73,293,978...73,303,611 		JBrowse link
G Ucn3 urocortin 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,309,748...66,315,996
Ensembl chr17:66,309,371...66,315,990 		JBrowse link
G Upf2 UPF2, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,224,575...72,335,896
Ensembl chr17:72,225,316...72,335,855 		JBrowse link
G Usp6nl USP6 N-terminal like ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:71,828,433...71,956,878
Ensembl chr17:71,830,469...71,956,027 		JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
hypotonia-cystinuria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camkmt calmodulin-lysine N-methyltransferase ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:606407		 CTD
MouseDO		 PMID:26247364 NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242 		JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,646,695...9,707,471
Ensembl chr 6:9,655,765...9,707,974 		JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907 		JBrowse link
Jacobsen Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,404,394...36,409,971
Ensembl chr 8:36,404,394...36,424,959 		JBrowse link
G Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,307,864...29,331,249
Ensembl chr 8:29,307,865...29,331,249 		JBrowse link
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404 		JBrowse link
G Aplp2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,599,230...29,662,311
Ensembl chr 8:29,599,230...29,661,855 		JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:30,421,269...30,681,653
Ensembl chr 8:30,421,515...30,678,454 		JBrowse link
G B3gat1 beta-1,3-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395 		JBrowse link
G Barx2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:30,251,132...30,319,105
Ensembl chr 8:30,251,132...30,319,013 		JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,991,147...37,068,849
Ensembl chr 8:36,998,867...37,068,919 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033 		JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009 		JBrowse link
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389 		JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,894,224...33,910,377
Ensembl chr 8:33,894,232...33,921,764 		JBrowse link
G Ei24 EI24, autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,494,289...36,510,653
Ensembl chr 8:36,494,289...36,510,571 		JBrowse link
G Esam endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,238,228...37,249,217
Ensembl chr 8:37,238,287...37,249,215 		JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010 		JBrowse link
G Fam118b family with sequence similarity 118, member B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,566,681...33,617,310
Ensembl chr 8:33,566,669...33,617,270 		JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683 		JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: 11q partial monosomy syndrome | ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:25741868 PMID:28255014 PMID:28492532 PMID:31064749 PMID:32581362 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433 		JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192 		JBrowse link
G Glb1l2 galactosidase, beta 1-like 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,115,462...25,166,843
Ensembl chr 8:25,115,462...25,166,783 		JBrowse link
G Glb1l3 galactosidase, beta 1-like 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,179,165...25,220,904
Ensembl chr 8:25,179,165...25,220,904 		JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920 		JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,912,692...33,921,760
Ensembl chr 8:33,912,692...33,921,760 		JBrowse link
G Igsf9b immunoglobulin superfamily, member 9B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,712,644...25,769,481
Ensembl chr 8:25,712,644...25,758,554 		JBrowse link
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355 		JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796 		JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518 		JBrowse link
G Kirrel3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,865,779...33,407,555
Ensembl chr 8:32,862,776...33,405,676 		JBrowse link
G Msantd2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,200,890...37,234,691
Ensembl chr 8:37,200,260...37,234,476 		JBrowse link
G Ncapd3 non-SMC condensin II complex, subunit D3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,437,067...25,506,375
Ensembl chr 8:25,437,123...25,506,373 		JBrowse link
G Nfrkb nuclear factor related to kappa B binding protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,831,802...29,863,360
Ensembl chr 8:29,831,812...29,863,359 		JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516 		JBrowse link
G Ntm neurotrimin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:27,376,582...28,366,604
Ensembl chr 8:27,377,773...28,366,595 		JBrowse link
G Opcml opioid binding protein/cell adhesion molecule-like ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:26,788,988...27,304,551
Ensembl chr 8:26,192,841...27,300,620 		JBrowse link
G Or8a1b olfactory receptor family 8 subfamily A member 1B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,434,903...37,435,832
Ensembl chr 8:37,434,551...37,439,746 		JBrowse link
G Or8b12 olfactory receptor family 8 subfamily B member 12 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,479,706...37,480,638
Ensembl chr 8:37,478,794...37,481,315 		JBrowse link
G Or8b3 olfactory receptor family 8 subfamily B member 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:38,521,915...38,522,856
Ensembl chr 8:38,520,758...38,522,936 		JBrowse link
G Or8b4 olfactory receptor family 8 subfamily B member 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,720,158...37,721,087 JBrowse link
G Or8b8 olfactory receptor family 8 subfamily B member 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,693,578...37,694,510
Ensembl chr 8:37,693,499...37,694,547 		JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,366,758...37,377,640
Ensembl chr 8:37,366,862...37,377,640 		JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:34,048,410...34,050,867
Ensembl chr 8:34,048,617...34,050,848 		JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:34,019,123...34,026,850
Ensembl chr 8:34,024,114...34,050,517 		JBrowse link
G Pate3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:34,014,164...34,016,175
Ensembl chr 8:34,014,164...34,016,175 		JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,988,812...33,991,552
Ensembl chr 8:33,988,812...33,991,552 		JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,600,633...36,863,131
Ensembl chr 8:36,600,636...36,790,940 		JBrowse link
G Prdm10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,724,011...29,827,757
Ensembl chr 8:29,724,245...29,826,080 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,119,953...37,133,887
Ensembl chr 8:37,119,988...37,132,519 		JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,617,384...33,626,873
Ensembl chr 8:33,617,379...33,626,873 		JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,318,724...37,354,004
Ensembl chr 8:37,318,747...37,353,996 		JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,945,787...36,971,748
Ensembl chr 8:36,946,930...36,971,482 		JBrowse link
G Snx19 sorting nexin 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,829,881...28,867,600
Ensembl chr 8:28,829,886...28,867,061 		JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,307,432...37,318,519
Ensembl chr 8:37,307,557...37,318,639 		JBrowse link
G Spata19 spermatogenesis associated 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,814,922...25,820,663
Ensembl chr 8:25,814,905...25,820,670 		JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517 		JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,415,666...33,465,319
Ensembl chr 8:33,415,671...33,524,389 		JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293 		JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,355,274...37,362,933
Ensembl chr 8:37,354,658...37,362,930 		JBrowse link
G Thyn1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,406,563...25,415,445
Ensembl chr 8:25,406,500...25,415,445 		JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927 		JBrowse link
G Tmem45b transmembrane protein 45b ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,865,276...29,910,453
Ensembl chr 8:29,865,278...29,910,453 		JBrowse link
G Vps26b VPS26 retromer complex component B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:25,415,877...25,436,985
Ensembl chr 8:25,415,261...25,436,985 		JBrowse link
G Vsig2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:37,250,107...37,255,150
Ensembl chr 8:37,250,107...37,255,150 		JBrowse link
G Zbtb44 zinc finger and BTB domain containing 44 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:29,466,055...29,524,027
Ensembl chr 8:29,466,352...29,518,163 		JBrowse link
Kleefstra syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537 		JBrowse link
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:21344641 PMID:22610116 PMID:23307537 PMID:25590979 PMID:25741868 More... NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371 		JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,394,942...8,401,323
Ensembl chr 3:8,392,889...8,401,321 		JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178 		JBrowse link
G Arrdc1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:7,735,002...7,742,195
Ensembl chr 3:7,735,011...7,742,197 		JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577 		JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,320,503...8,322,087
Ensembl chr 3:8,305,920...8,323,495 		JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:10,335,881...10,352,437
Ensembl chr 3:10,335,881...10,343,406 		JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091 		JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237 		JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194 		JBrowse link
G Cimip2a ciliary microtubule inner protein 2A ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:8,030,548...8,038,370
Ensembl chr 3:8,033,246...8,037,961 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Cysrt1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:8,054,195...8,057,846
Ensembl chr 3:8,053,482...8,059,721 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:9,169,948...9,171,727
Ensembl chr 3:9,169,793...9,180,551 		JBrowse link
G Dph7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:7,770,368...7,778,994
Ensembl chr 3:7,770,379...7,778,982 		JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355 		JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363 		JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879 		JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO
ISS		 ClinVar Annotator: match by term: EHMT1-related condition | ClinVar Annotator: match by term: Kleefstra syndrome 1
OMIM:610253
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:16826528 PMID:17576681 PMID:18414213 More... NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688 		JBrowse link
G Fam163b family with sequence similarity 163, member B ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:10,437,383...10,466,458
Ensembl chr 3:10,437,383...10,466,458 		JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092 		JBrowse link
G Fcnb ficolin B ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:11,393,713...11,402,198
Ensembl chr 3:11,393,739...11,402,151 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260 		JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:8,627,911...8,636,335 		JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:25741868 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
G Lcn1 lipocalin 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577 		JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,312,412...8,315,392
Ensembl chr 3:8,305,920...8,323,495 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918 		JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:8,636,548...8,652,200 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		JBrowse link
G Lrrc26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:8,102,361...8,103,687
Ensembl chr 3:8,102,361...8,103,687 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003 		JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006 		JBrowse link
G Mir126a microRNA 126a ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180 		JBrowse link
G Mrpl41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:7,780,658...7,781,576
Ensembl chr 3:7,779,143...7,782,818 		JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:11,803,044...11,806,341
Ensembl chr 3:11,801,310...11,806,313 		JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343 		JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660 		JBrowse link
G Ndor1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:8,062,629...8,070,873
Ensembl chr 3:8,062,630...8,070,860 		JBrowse link
G Nelfb negative elongation factor complex member B ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:8,010,883...8,027,403
Ensembl chr 3:8,010,888...8,027,403 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Noxa1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:7,895,488...7,907,011
Ensembl chr 3:7,895,488...7,905,967 		JBrowse link
G Npdc1 neural proliferation, differentiation and control, 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22726846 NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906 		JBrowse link
G Nrarp Notch-regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:7,992,552...7,995,133 		JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614 		JBrowse link
G Obp2a odorant binding protein 2A ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:8,505,963...8,509,269
Ensembl chr 3:8,505,990...8,509,269 		JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:11,520,522...11,558,240
Ensembl chr 3:11,520,729...11,558,239 		JBrowse link
G Paep progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:25741868 PMID:28492532 PMID:31209758 NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430 		JBrowse link
G Paxx PAXX, non-homologous end joining factor ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,274,762...8,276,322
Ensembl chr 3:8,274,762...8,276,521 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,392,926...8,394,325 JBrowse link
G Pierce1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:11,797,031...11,801,568
Ensembl chr 3:11,797,031...11,801,568 		JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844 		JBrowse link
G Pnpla7 patatin-like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497 		JBrowse link
G Ppp1r26 protein phosphatase 1, regulatory subunit 26 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:11,781,504...11,790,076
Ensembl chr 3:11,781,295...11,790,073 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833 		JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664 		JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611 		JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:10,280,654...10,291,003
Ensembl chr 3:10,280,654...10,290,996 		JBrowse link
G Rnf208 ring finger protein 208 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:8,057,808...8,059,721
Ensembl chr 3:8,043,685...8,059,844 		JBrowse link
G Rnf224 ring finger protein 224 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:8,050,088...8,052,416
Ensembl chr 3:8,051,475...8,051,945 		JBrowse link
G Rnu6atac RNA, U6atac small nuclear ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 2:211,550,817...211,550,946
Ensembl chr 2:211,550,817...211,550,946 		JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546 		JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273 		JBrowse link
G Slc2a6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:10,348,395...10,355,208
Ensembl chr 3:10,348,395...10,355,208 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970 		JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518 		JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388 		JBrowse link
G Ssna1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:8,084,949...8,086,417
Ensembl chr 3:8,084,974...8,086,356 		JBrowse link
G Stkld1 serine/threonine kinase-like domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:10,261,583...10,280,850
Ensembl chr 3:10,261,828...10,280,566 		JBrowse link
G Stpg3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:8,028,122...8,030,546
Ensembl chr 3:8,028,131...8,034,601 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315 		JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:10,244,654...10,248,502
Ensembl chr 3:10,244,654...10,250,077 		JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:10,248,360...10,261,537
Ensembl chr 3:10,241,837...10,263,315 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491 		JBrowse link
G Tmem203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:8,070,904...8,071,732
Ensembl chr 3:8,070,914...8,071,867 		JBrowse link
G Tmem210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:8,100,595...8,101,645
Ensembl chr 3:8,100,590...8,101,643 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349 		JBrowse link
G Tor4a torsin family 4, member A ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:8,004,292...8,007,979
Ensembl chr 3:8,002,023...8,008,042 		JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642 		JBrowse link
G Traf2 Tnf receptor-associated factor 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538 		JBrowse link
G Tubb4b tubulin, beta 4B class IVb ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:8,037,838...8,040,294
Ensembl chr 3:8,037,799...8,040,296 		JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443 		JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028 		JBrowse link
G Vav2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:10,584,688...10,754,128
Ensembl chr 3:10,584,688...10,754,052 		JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 3:10,836,964...10,856,682
Ensembl chr 3:10,837,025...10,856,671 		JBrowse link
G Zmynd19 zinc finger, MYND-type containing 19 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 3:7,758,133...7,769,722
Ensembl chr 3:7,758,133...7,767,514 		JBrowse link
Koolen de Vries syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arf2 ADP-ribosylation factor 2 ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:25741868 NCBI chr10:88,867,836...88,889,654
Ensembl chr10:88,867,836...88,889,659 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: KANSL1-related condition | ClinVar Annotator: match by term: Koolen-de Vries syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2544363 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18628315 More... NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951 		JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:18628315 PMID:21094706 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Sppl2c signal peptide peptidase like 2C ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr10:89,095,279...89,097,487
Ensembl chr10:89,095,261...89,098,580 		JBrowse link
Miller-Dieker lissencephaly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISS OMIM:247200 MouseDO NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850 		JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISS OMIM:247200 MouseDO NCBI chr10:60,014,520...60,019,475
Ensembl chr10:60,011,528...60,019,475 		JBrowse link
G Mnt MAX network transcriptional repressor ISS OMIM:247200 MouseDO NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISS OMIM:247200 MouseDO NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808 		JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISS OMIM:247200 MouseDO NCBI chr10:60,584,665...60,622,352
Ensembl chr10:60,584,652...60,671,589 		JBrowse link
Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9l sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 1 | ClinVar Annotator: match by term: Monosomy 7 of bone marrow OMIM
ClinVar		 PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 PMID:28492532 More... NCBI chr 4:31,362,054...31,376,412
Ensembl chr 4:31,361,669...31,376,415 		JBrowse link
Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9 sterile alpha motif domain containing 9 ISO ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 2 OMIM
ClinVar		 PMID:2569483 PMID:25741868 PMID:28487541 PMID:28492532 PMID:29535429 More... NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322 		JBrowse link
NFIA-related disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfia nuclear factor I/A ISO ClinVar Annotator: match by term: Brain malformations with or without urinary tract defects | ClinVar Annotator: match by term: Chromosome 1p32-p31 deletion syndrome | ClinVar Annotator: match by term: NFIA-related condition | ClinVar Annotator: match by term: NFIA-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10518556 PMID:17530927 PMID:19058033 PMID:19763616 PMID:20673863 More... NCBI chr 5:112,436,655...112,781,878
Ensembl chr 5:112,436,644...112,775,885 		JBrowse link
Phelan-McDermid syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acr acrosin ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,636,581...120,644,474
Ensembl chr 7:120,638,321...120,644,474 		JBrowse link
G Adm2 adrenomedullin 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,393,179...120,394,965
Ensembl chr 7:120,393,179...120,396,331 		JBrowse link
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458 		JBrowse link
G Arhgap8 Rho GTPase activating protein 8 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,842,223...115,902,094
Ensembl chr 7:115,850,654...115,902,093 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
G Atxn10 ataxin 10 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,441,768...116,565,093
Ensembl chr 7:116,441,613...116,565,087 		JBrowse link
G Bik BCL2-interacting killer ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:114,672,277...114,691,296
Ensembl chr 7:114,672,277...114,691,296 		JBrowse link
G Brd1 bromodomain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:119,774,187...119,822,032
Ensembl chr 7:119,774,188...119,822,031 		JBrowse link
G Cdpf1 cysteine rich, DPF motif domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,896,672...116,905,438
Ensembl chr 7:116,901,003...116,905,406 		JBrowse link
G Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164 		JBrowse link
G Cerk ceramide kinase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:117,225,855...117,269,436
Ensembl chr 7:117,225,855...117,268,759 		JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461 		JBrowse link
G Cimap1b ciliary microtubule associated protein 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,444,232...120,447,294
Ensembl chr 7:120,444,232...120,446,749 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar PMID:25741868 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404 		JBrowse link
G Creld2 cysteine-rich with EGF-like domains 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:119,909,626...119,916,556
Ensembl chr 7:119,909,633...119,916,543 		JBrowse link
G Dennd6b DENN domain containing 6B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,261,679...120,273,667
Ensembl chr 7:120,261,679...120,273,494 		JBrowse link
G Efcab6 EF-hand calcium binding domain 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,018,971...115,200,121
Ensembl chr 7:115,019,010...115,206,092 		JBrowse link
G Fam118a family with sequence similarity 118, member A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,152,448...116,178,976
Ensembl chr 7:116,146,716...116,178,971 		JBrowse link
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075 		JBrowse link
G Gramd4 GRAM domain containing 4 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:117,150,398...117,224,056
Ensembl chr 7:117,150,374...117,224,053 		JBrowse link
G Gtse1 G-2 and S-phase expressed 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,949,997...116,966,826
Ensembl chr 7:116,950,053...116,966,806 		JBrowse link
G Hdac10 histone deacetylase 10 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,199,126...120,205,850
Ensembl chr 7:120,199,129...120,204,228 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:18948358 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Kiaa0930 KIAA0930 homolog ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,067,974...116,107,678
Ensembl chr 7:116,071,447...116,107,727 		JBrowse link
G Klhdc7b kelch domain containing 7B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,452,081...120,455,737
Ensembl chr 7:120,453,932...120,455,737 		JBrowse link
G Lmf2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823 		JBrowse link
G Mapk11 mitogen-activated protein kinase 11 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,218,471...120,225,488
Ensembl chr 7:120,218,478...120,225,395 		JBrowse link
G Mapk12 mitogen-activated protein kinase 12 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,206,005...120,216,711
Ensembl chr 7:120,206,271...120,216,664 		JBrowse link
G Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,526,732...120,536,982
Ensembl chr 7:120,526,732...120,536,982 		JBrowse link
G Mcat malonyl-CoA-acyl carrier protein transacylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:114,693,612...114,705,677
Ensembl chr 7:114,693,612...114,704,542 		JBrowse link
G Miox myo-inositol oxygenase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,405,031...120,407,529
Ensembl chr 7:120,405,031...120,407,537 		JBrowse link
G Mir1249 microRNA 1249 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,075,593...116,075,712
Ensembl chr 7:116,075,593...116,075,712 		JBrowse link
G Mirlet7b microRNA let-7b ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,804,186...116,804,270
Ensembl chr 7:116,804,186...116,804,270 		JBrowse link
G Mirlet7bhg Mirlet7b host gene ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar
G Mirlet7c2 microRNA let7c-2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,803,771...116,803,865
Ensembl chr 7:116,803,771...116,803,865 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049 		JBrowse link
G Mov10l1 Mov10 like RNA helicase 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,070,171...120,135,406
Ensembl chr 7:120,070,135...120,134,765 		JBrowse link
G Mpped1 metallophosphoesterase domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:114,932,221...115,011,797
Ensembl chr 7:114,944,764...115,011,787 		JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938 		JBrowse link
G Nup50 nucleoporin 50 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,047,960...116,065,231
Ensembl chr 7:116,048,021...116,066,905 		JBrowse link
G Panx2 pannexin 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,139,259...120,153,056
Ensembl chr 7:120,139,294...120,152,361 		JBrowse link
G Parvb parvin, beta ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,360,254...115,445,767
Ensembl chr 7:115,360,261...115,445,766 		JBrowse link
G Parvg parvin, gamma ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,456,183...115,475,707
Ensembl chr 7:115,456,209...115,475,104 		JBrowse link
G Phf21b PHD finger protein 21B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,913,704...115,984,215
Ensembl chr 7:115,915,412...115,984,215 		JBrowse link
G Pim3 Pim-3 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:119,953,377...119,956,587
Ensembl chr 7:119,953,175...119,956,587 		JBrowse link
G Pkdrej polycystin family receptor for egg jelly ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,909,094...116,915,468
Ensembl chr 7:116,909,094...116,915,468 		JBrowse link
G Plxnb2 plexin B2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,232,276...120,258,385
Ensembl chr 7:120,232,331...120,258,330 		JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077 		JBrowse link
G Pnpla5 patatin-like phospholipase domain containing 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,246,050...115,257,039
Ensembl chr 7:115,246,050...115,257,039 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Ppp6r2 protein phosphatase 6, regulatory subunit 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,285,378...120,356,995
Ensembl chr 7:120,285,406...120,356,395 		JBrowse link
G Prr5 proline rich 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,795,351...115,837,880
Ensembl chr 7:115,813,954...115,834,834 		JBrowse link
G Rabl2 RAB, member of RAS oncogene family like 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,652,175...120,660,906
Ensembl chr 7:120,652,175...120,660,783 		JBrowse link
G Ribc2 RIB43A domain with coiled-coils 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,242,863...116,257,868
Ensembl chr 7:116,242,863...116,257,863 		JBrowse link
G Rtl6 retrotransposon Gag like 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,684,812...115,689,897
Ensembl chr 7:115,684,739...115,690,052 		JBrowse link
G Samm50 SAMM50 sorting and assembly machinery component ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,317,472...115,341,682
Ensembl chr 7:115,317,404...115,341,682 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902 		JBrowse link
G Scube1 signal peptide, CUB domain and EGF like domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:114,759,016...114,880,995
Ensembl chr 7:114,759,010...114,880,940 		JBrowse link
G Selenoo selenoprotein O ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,167,913...120,178,806
Ensembl chr 7:120,167,913...120,178,805 		JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO
ISS
IMP		 ClinVar Annotator: match by term: Phelan-McDermid syndrome | ClinVar Annotator: match by term: SHANK3-related condition
OMIM:606232
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:16284256 PMID:17173049 PMID:17999366 PMID:18615476 PMID:20301377 More... RGD:41404704 NCBI chr 7:120,568,707...120,630,796
Ensembl chr 7:120,570,402...120,630,374 		JBrowse link
G Shank3em1Bux SH3 and multiple ankyrin repeat domains 3; ZFN induced mutant 1, Bux IMP RGD PMID:28139198 RGD:41404704
G Shisal1 shisa like 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,506,947...115,611,518
Ensembl chr 7:115,509,035...115,575,449 		JBrowse link
G Smc1b structural maintenance of chromosomes 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,180,987...116,242,778
Ensembl chr 7:116,180,987...116,242,744 		JBrowse link
G Sult4a1 sulfotransferase family 4A, member 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,216,066...115,240,156
Ensembl chr 7:115,216,066...115,240,085 		JBrowse link
G Syce3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973 		JBrowse link
G Tafa5 TAFA chemokine like family member 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:118,613,731...118,835,016
Ensembl chr 7:118,613,889...118,834,353 		JBrowse link
G Tbc1d22a TBC1 domain family, member 22a ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:117,292,481...117,577,473
Ensembl chr 7:117,292,631...117,577,483 		JBrowse link
G Tcf20 transcription factor 20 ISS OMIM:606232 MouseDO NCBI chr 7:113,953,449...114,104,166
Ensembl chr 7:113,954,089...114,051,839 		JBrowse link
G Trabd TraB domain containing ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,155,042...120,166,015
Ensembl chr 7:120,155,042...120,166,015 		JBrowse link
G Trmu tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,969,750...116,987,704
Ensembl chr 7:116,969,756...116,986,355 		JBrowse link
G Tspo translocator protein ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:114,720,188...114,730,450
Ensembl chr 7:114,720,188...114,730,450 		JBrowse link
G Ttc38 tetratricopeptide repeat domain 38 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,925,273...116,948,616
Ensembl chr 7:116,925,257...116,948,611 		JBrowse link
G Ttll1 TTL family tubulin polyglutamylase complex subunit L1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:114,619,509...114,648,850
Ensembl chr 7:114,619,508...114,648,761 		JBrowse link
G Ttll12 tubulin tyrosine ligase like 12 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:114,731,890...114,751,237
Ensembl chr 7:114,731,892...114,751,356 		JBrowse link
G Ttll8 tubulin tyrosine ligase like 8 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,000,638...120,046,556
Ensembl chr 7:120,001,794...120,045,075 		JBrowse link
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
G Upk3a uroplakin 3A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,128,981...116,139,950
Ensembl chr 7:116,134,874...116,139,948 		JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,634,817...116,679,459
Ensembl chr 7:116,634,814...116,679,581 		JBrowse link
G Zbed4 zinc finger, BED-type containing 4 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:119,846,374...119,883,495
Ensembl chr 7:119,843,169...119,883,899 		JBrowse link
Rubinstein Taybi like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:16412590 PMID:30806792 NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
Rubinstein-Taybi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 ClinVar PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More... NCBI chr10:11,138,966...11,262,067
Ensembl chr10:11,139,446...11,262,066 		JBrowse link
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr10:10,346,538...10,356,768
Ensembl chr10:10,346,536...10,356,750 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806 		JBrowse link
G C10h16orf89 similar to human chromosome 16 open reading frame 89 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr10:10,361,909...10,371,046
Ensembl chr10:10,361,948...10,371,046 		JBrowse link
G C10h16orf90 similar to human chromosome 16 open reading frame 90 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:11,618,867...11,632,151
Ensembl chr10:11,618,348...11,629,910 		JBrowse link
G C10h16orf96 similar to human chromosome 16 open reading frame 96 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:10,707,529...10,750,893 JBrowse link
G Cdip1 cell death-inducing p53 target 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:10,773,538...10,796,979
Ensembl chr10:10,774,705...10,796,980 		JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711 		JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001 		JBrowse link
G Crebbp CREB binding protein ISO
ISS		 ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
OMIM:180849 | OMIM:610543 | OMIM:613684
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1
ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7630403 PMID:8967953 PMID:9536098 PMID:11331617 PMID:12070251 More... RGD:734820 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:10,600,747...10,614,891
Ensembl chr10:10,600,734...10,614,891 		JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:10,854,732...10,880,171
Ensembl chr10:10,854,732...10,880,161 		JBrowse link
G Dnajb7 DnaJ heat shock protein family (Hsp40) member B7 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr 7:112,932,736...112,934,050
Ensembl chr 7:112,932,616...112,945,537 		JBrowse link
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869 		JBrowse link
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr10:10,336,933...10,349,463
Ensembl chr10:10,336,974...10,347,039 		JBrowse link
G Ep300 E1A binding protein p300 ISO DNA:nonsense mutation, deletions:exons, 5' utr:p.R648X, c.2877_2884del, c.-1200-?_94+?del (human)
ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
DNA:nonsense mutation, deletions:multiple (human)		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10700188 PMID:15706485 PMID:16199547 PMID:17299436 More... RGD:1580966, RGD:7296921 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 ClinVar PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More... NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578 		JBrowse link
G Glyr1 glyoxylate reductase 1 homolog ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr10:10,532,036...10,567,639
Ensembl chr10:10,532,154...10,567,637 		JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148 		JBrowse link
G Mchr1 melanin-concentrating hormone receptor 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr 7:112,761,554...112,764,746
Ensembl chr 7:112,761,554...112,764,032 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315 		JBrowse link
G Naa60 N(alpha)-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:11,622,554...11,653,078
Ensembl chr10:11,587,916...11,642,755 		JBrowse link
G Nagpa N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr10:10,380,262...10,388,609
Ensembl chr10:10,380,264...10,388,592 		JBrowse link
G Nlrc3 NLR family, CARD domain containing 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:11,551,378...11,585,027
Ensembl chr10:11,551,356...11,584,398 		JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:10,841,693...10,850,199
Ensembl chr10:10,841,799...10,850,192 		JBrowse link
G Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:10,636,174...10,638,090
Ensembl chr10:10,636,174...10,688,370 		JBrowse link
G Or2c1 olfactory receptor family 2 subfamily C member 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:11,682,890...11,683,828
Ensembl chr10:11,681,001...11,692,105 		JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome		 ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649 		JBrowse link
G Ppl periplakin ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr10:10,450,919...10,496,575
Ensembl chr10:10,450,919...10,496,575 		JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr 7:112,976,863...113,001,051
Ensembl chr 7:112,990,835...113,001,051 		JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome		 ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:10,567,834...10,572,453
Ensembl chr10:10,567,834...10,572,452 		JBrowse link
G Sec14l5 SEC14-like lipid binding 5 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr10:10,394,963...10,436,076
Ensembl chr10:10,396,878...10,435,917 		JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581 		JBrowse link
G Slc25a17 solute carrier family 25 member 17 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr 7:112,844,375...112,887,014
Ensembl chr 7:112,844,375...112,925,945 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295 		JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:10,572,146...10,574,339 JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 ClinVar PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More... NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101 		JBrowse link
G St13 ST13, Hsp70 interacting protein ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr 7:112,891,007...112,925,727
Ensembl chr 7:112,844,375...112,925,945 		JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 ClinVar PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More... NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 ClinVar PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More... NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981 		JBrowse link
G Ubald1 UBA-like domain containing 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:10,695,754...10,700,519
Ensembl chr10:10,695,717...10,700,518 		JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr10:10,496,576...10,532,010
Ensembl chr10:10,496,576...10,532,010 		JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:10,917,750...10,928,259
Ensembl chr10:10,917,605...10,928,357 		JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr 7:112,926,154...112,978,793
Ensembl chr 7:112,926,248...112,974,878 		JBrowse link
G Zfp174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:11,666,580...11,676,328
Ensembl chr10:11,669,913...11,676,312 		JBrowse link
G Zfp263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:11,764,424...11,774,324
Ensembl chr10:11,764,427...11,771,235 		JBrowse link
G Zfp597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:11,653,169...11,658,843
Ensembl chr10:11,653,127...11,660,675 		JBrowse link
SATB2-associated syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Satb2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Chromosome 2q32-q33 deletion syndrome | ClinVar Annotator: match by term: SATB2 associated disorder | ClinVar Annotator: match by term: SATB2-Related Disorder | ClinVar Annotator: match by term: SATB2-associated syndrome | ClinVar Annotator: match by term: SATB2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17377962 PMID:17576681 PMID:21343628 More... NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707 		JBrowse link
Sensorineural Deafness and Male Infertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper2 cation channel, sperm associated 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome		 CTD
ClinVar		 PMID:19344877 PMID:24033266 PMID:25741868 NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050 		JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 3:108,329,859...108,335,760
Ensembl chr 3:108,330,705...108,335,758 		JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 3:108,284,120...108,327,683
Ensembl chr 3:108,284,120...108,323,428 		JBrowse link
G Strc stereocilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome		 CTD
ClinVar		 PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 More... NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134 		JBrowse link
Smith-Magenis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:25741868 PMID:27799067 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694 		JBrowse link
G Cc2d1a coiled-coil and C2 domain containing 1A ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:24026677 PMID:25741868 PMID:27799067 PMID:28492532 NCBI chr19:24,011,897...24,026,937
Ensembl chr19:24,011,938...24,026,936 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:25741868 PMID:27799067 PMID:28492532 NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097 		JBrowse link
G Jakmip1 janus kinase and microtubule interacting protein 1 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr14:73,646,299...73,766,830
Ensembl chr14:73,632,428...73,713,993 		JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 PMID:28492532 NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:10854091 PMID:11055898 PMID:11738883 PMID:12111643 PMID:12966523 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Rai1 retinoic acid induced 1 ISO
ISS		 DNA:deletions, frameshift mutations:cds:
ClinVar Annotator: match by term: RAI1-related condition | ClinVar Annotator: match by term: Smith-Magenis syndrome
OMIM:182290
ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome | ClinVar Annotator: match by term: Smith-Magenis syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8841119 PMID:12652298 PMID:15459175 PMID:15746153 PMID:15788730 More... RGD:1599405 NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232 		JBrowse link
G Sms spermine synthase ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25741868 NCBI chr  X:37,516,949...37,572,657
Ensembl chr  X:37,516,931...37,570,822 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25087610 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		JBrowse link
G Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome ClinVar PMID:9536098 PMID:16266984 PMID:17576681 PMID:20154675 PMID:25389632 More... NCBI chr 3:114,466,095...114,478,894
Ensembl chr 3:114,466,171...114,477,519 		JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25087610 NCBI chr10:45,036,034...45,158,168
Ensembl chr10:45,036,035...45,158,032 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
Takao VCF Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome ClinVar PMID:14585638 PMID:15703190 PMID:17273972 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
thrombocytopenia-absent radius syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017 		JBrowse link
G Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,129,830...184,135,075
Ensembl chr 2:184,129,238...184,135,116 		JBrowse link
G Ankrd35 ankyrin repeat domain 35 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,207,076...184,227,063
Ensembl chr 2:184,207,071...184,227,063 		JBrowse link
G Bcl9 BCL9, transcription coactivator ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435 		JBrowse link
G Cd160 CD160 molecule ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,340,820...184,383,421
Ensembl chr 2:184,340,599...184,375,834 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595 		JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:185,197,184...185,249,699
Ensembl chr 2:185,222,204...185,249,693 		JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952 		JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
G Gpr89b G protein-coupled receptor 89B ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,408,136...184,445,560
Ensembl chr 2:184,401,438...184,445,584 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850 		JBrowse link
G Itga10 integrin subunit alpha 10 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,182,869...184,202,172
Ensembl chr 2:184,182,869...184,202,172 		JBrowse link
G Lix1l limb and CNS expressed 1 like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,136,018...184,161,918
Ensembl chr 2:184,136,038...184,161,916 		JBrowse link
G LOC120098377 U1 spliceosomal RNA ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr18:79,901,335...79,901,477
Ensembl chr18:79,901,335...79,901,477
Ensembl chr18:79,901,335...79,901,477 		JBrowse link
G LOC120101277 U1 spliceosomal RNA ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:183,943,024...183,943,187
Ensembl chr 2:183,943,024...183,943,187 		JBrowse link
G Nudt17 nudix hydrolase 17 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,241,468...184,243,960
Ensembl chr 2:184,241,468...184,243,960 		JBrowse link
G Pdzk1 PDZ domain containing 1 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,376,161...184,407,514
Ensembl chr 2:184,376,161...184,407,514 		JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495 		JBrowse link
G Pias3 protein inhibitor of activated STAT, 3 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,232,546...184,241,455
Ensembl chr 2:184,232,571...184,241,480 		JBrowse link
G Polr3c RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,246,201...184,262,150
Ensembl chr 2:184,246,204...184,262,208 		JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114 		JBrowse link
G Ppial4g peptidylprolyl isomerase A like 4G ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr15:74,015,628...74,016,215
Ensembl chr15:74,015,628...74,016,215 		JBrowse link
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:185,257,218...185,272,846
Ensembl chr 2:185,257,213...185,269,872 		JBrowse link
G Rbm8a RNA binding motif protein 8A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16501574 PMID:17236129 PMID:17576681 PMID:20301781 More... NCBI chr 2:184,165,189...184,167,959
Ensembl chr 2:184,165,193...184,167,959 		JBrowse link
G Rnf115 ring finger protein 115 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:184,262,087...184,329,839
Ensembl chr 2:184,262,371...184,329,823 		JBrowse link
G Rnvu1-6 RNA, variant U1 small nuclear 6 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 2:220,206,250...220,206,413
Ensembl chr 2:220,206,250...220,206,413 		JBrowse link
G Txnip thioredoxin interacting protein ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886 		JBrowse link
velocardiofacial syndrome term browser
Symbol Object Name Qualifiers 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 chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805 		JBrowse link
G C11h22orf39 similar to human chromosome 22 open reading frame 39 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235 		JBrowse link
G Ccdc188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619 		JBrowse link
G Chrd chordin ISS OMIM:192430 MouseDO NCBI chr11:80,171,994...80,181,166
Ensembl chr11:80,171,994...80,180,673 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISS
ISO		 OMIM:192430
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome		 MouseDO
ClinVar		 PMID:25741868 NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502 		JBrowse link
G Dgcr6 DiGeorge syndrome critical region gene 6 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823 		JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242 		JBrowse link
G Ednra endothelin receptor type A ISS OMIM:192430 MouseDO NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126 		JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529 		JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770 		JBrowse link
G LOC120095536 protein FAM246A-like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,150,952...83,151,644
Ensembl chr11:83,150,952...83,151,644 		JBrowse link
G Lrrc74b leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISS OMIM:192430 MouseDO NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362 		JBrowse link
G Mir1306 microRNA 1306 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719 		JBrowse link
G Mir185 microRNA 185 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISS OMIM:192430 MouseDO NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113 		JBrowse link
G Prodh proline dehydrogenase ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838 		JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,844,309...82,869,251
Ensembl chr11:82,844,309...82,869,466 		JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781 		JBrowse link
G Slc7a4 solute carrier family 7, member 4 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958 		JBrowse link
G Snora77b small nucleolar RNA, H/ACA box 77B ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO
ISS		 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:192430		 OMIM
ClinVar
MouseDO
RGD		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:16684884 PMID:17273972 More... RGD:155641243 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISS OMIM:192430 MouseDO NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336 		JBrowse link
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,086,578...83,087,933 JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087 		JBrowse link
G Wfdc21 WAP four-disulfide core domain 21 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701 		JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734 		JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761 		JBrowse link
WAGR syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar PMID:28492532 NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243 		JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome		 CTD
ClinVar		 PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: CHROMOSOME 11p13 DELETION SYNDROME | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... RGD:1331525 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
Williams-Beuren syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd11 abhydrolase domain containing 11 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,682,206...21,685,331
Ensembl chr12:21,682,202...21,685,398 		JBrowse link
G Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,681,118...21,682,106 JBrowse link
G Baz1b bromodomain adjacent to zinc finger domain, 1B ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:194050
ClinVar Annotator: match by term: Williams syndrome		 CTD
MouseDO
ClinVar		 PMID:16448863 PMID:25741868 NCBI chr12:21,431,985...21,489,956
Ensembl chr12:21,431,985...21,490,426 		JBrowse link
G Bcl7b BAF chromatin remodeling complex subunit BCL7B ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,496,860...21,510,079
Ensembl chr12:21,496,856...21,510,202 		JBrowse link
G Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,629,551...21,640,758
Ensembl chr12:21,629,536...21,640,751 		JBrowse link
G Cldn3 claudin 3 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,708,538...21,710,010
Ensembl chr12:21,708,398...21,711,001 		JBrowse link
G Cldn4 claudin 4 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,751,638...21,753,436
Ensembl chr12:21,751,331...21,753,436 		JBrowse link
G Clip2 CAP-GLY domain containing linker protein 2 ISO
ISS		 ClinVar Annotator: match by term: Williams syndrome
OMIM:194050		 ClinVar
MouseDO
RGD		 PMID:25741868 PMID:12195424 RGD:734863 NCBI chr12:22,163,044...22,227,023
Ensembl chr12:22,163,218...22,227,023 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:194050		 CTD
MouseDO		 PMID:20952458 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408 		JBrowse link
G Eif4h eukaryotic translation initiation factor 4H ISO
ISS		 ClinVar Annotator: match by term: Williams syndrome
OMIM:194050		 ClinVar
MouseDO
RGD		 PMID:25741868 PMID:8812460 RGD:1580597 NCBI chr12:22,083,155...22,099,876
Ensembl chr12:22,082,835...22,099,876 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB | ClinVar Annotator: match by term: Williams syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:10942104 PMID:25741868 PMID:28492532 PMID:31829210 PMID:7545578 More... RGD:7207897, RGD:9585755 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fkbp6 FKBP prolyl isomerase family member 6 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar
RGD		 PMID:25741868 PMID:9782077 RGD:1582483 NCBI chr12:21,318,251...21,390,350
Ensembl chr12:21,319,568...21,390,350 		JBrowse link
G Fzd3 frizzled class receptor 3 ISO RGD PMID:9147651 RGD:1582654 NCBI chr15:39,421,366...39,488,369
Ensembl chr15:39,421,355...39,488,369 		JBrowse link
G Fzd9 frizzled class receptor 9 ISS
ISO		 OMIM:194050
ClinVar Annotator: match by term: Williams syndrome		 MouseDO
ClinVar		 PMID:25741868 NCBI chr12:21,427,084...21,429,398
Ensembl chr12:21,427,084...21,429,398 		JBrowse link
G Gtf2i general transcription factor II I ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:194050
ClinVar Annotator: match by term: Williams syndrome		 CTD
MouseDO
ClinVar		 PMID:20007321 PMID:21328569 PMID:25741868 NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243 		JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:194050
ClinVar Annotator: match by term: Williams syndrome		 CTD
MouseDO
ClinVar		 PMID:20007321 PMID:25741868 NCBI chr12:22,254,113...22,361,052
Ensembl chr12:22,254,221...22,361,040 		JBrowse link
G Lat2 linker for activation of T cells family, member 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar
RGD		 PMID:25741868 PMID:11003705 RGD:1549872 NCBI chr12:22,104,173...22,118,294
Ensembl chr12:22,104,219...22,118,288 		JBrowse link
G Limk1 LIM domain kinase 1 ISS
ISO		 OMIM:194050
ClinVar Annotator: match by term: Williams syndrome		 MouseDO
ClinVar		 PMID:25741868 NCBI chr12:22,026,697...22,060,605
Ensembl chr12:22,026,672...22,060,606 		JBrowse link
G Lox lysyl oxidase ISS OMIM:194050 MouseDO NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G Mettl27 methyltransferase like 27 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,757,545...21,766,698
Ensembl chr12:21,757,329...21,766,685 		JBrowse link
G Mlxipl MLX interacting protein-like ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Williams syndrome		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO RGD PMID:16532385 RGD:1624399 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646 		JBrowse link
G Nsun5 NOP2/Sun RNA methyltransferase 5 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,293,637...21,299,319
Ensembl chr12:21,293,645...21,299,272 		JBrowse link
G Rcc1l RCC1 like ISO RGD PMID:12073013 RGD:1580600 NCBI chr12:22,543,125...22,574,042
Ensembl chr12:22,543,734...22,574,036 		JBrowse link
G Rfc2 replication factor C subunit 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:22,120,449...22,133,576
Ensembl chr12:22,120,010...22,133,557 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISS OMIM:194050 MouseDO NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476 		JBrowse link
G Stx1a syntaxin 1A ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,641,971...21,670,022
Ensembl chr12:21,641,969...21,669,930 		JBrowse link
G Tbl2 transducin (beta)-like 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,517,600...21,531,896
Ensembl chr12:21,520,682...21,531,896 		JBrowse link
G Tmem270 transmembrane protein 270 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,793,631...21,798,723
Ensembl chr12:21,794,130...21,798,731 		JBrowse link
G Trim50 tripartite motif-containing 50 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,300,784...21,317,668
Ensembl chr12:21,300,785...21,317,668 		JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,609,210...21,614,669
Ensembl chr12:21,609,182...21,614,659 		JBrowse link
Wolf-Hirschhorn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplx1 complexin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:1,184,677...1,216,392 JBrowse link
G Ctbp1 C-terminal binding protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:194190
ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome		 CTD
MouseDO
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928 		JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf syndrome | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome		 CTD
ClinVar		 PMID:14706454 PMID:25741868 PMID:28492532 NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904 		JBrowse link
G Msx1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630905 NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:194190
ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome		 CTD
MouseDO
ClinVar		 PMID:11252005 PMID:24874954 PMID:25741868 PMID:28492532 PMID:29760529 More... NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641 		JBrowse link
G Nuf2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome ClinVar NCBI chr13:81,693,675...81,722,765
Ensembl chr13:81,693,598...81,722,766 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          chromosomal disease 2729
            Chromosome Deletion 1555
              16Q24.3 Microdeletion Syndrome 31
              7p2 Monosomy Syndrome 0
              CHROMOSOME 2p16.3 DELETION SYNDROME 1
              Chromosome 1, Deletion q21 q25 0
              Chromosome 1, Monosomy 1p 0
              Chromosome 1, Monosomy 1p22 p13 0
              Chromosome 1, Monosomy 1p31 p22 0
              Chromosome 1, Monosomy 1p32 0
              Chromosome 1, Monosomy 1p34 p32 0
              Chromosome 1, Monosomy 1q25 q32 0
              Chromosome 1, Monosomy 1q32 q42 0
              Chromosome 1, Monosomy 1q4 0
              Chromosome 10, Monosomy 10q 0
              Chromosome 11, Deletion 11p 0
              Chromosome 11p, Partial Deletion 0
              Chromosome 11q Partial Deletion 0
              Chromosome 12p Deletion 0
              Chromosome 12p Partial Deletion 0
              Chromosome 14q, Partial Deletions 0
              Chromosome 14q, Terminal Deletion 0
              Chromosome 15q, partial deletion 0
              Chromosome 17, Deletion 17q23 q24 0
              Chromosome 18, Deletion 18q23 0
              Chromosome 2, Monosomy 2p22 0
              Chromosome 2, Monosomy 2pter p24 0
              Chromosome 2, Monosomy 2q 0
              Chromosome 2, Monosomy 2q24 0
              Chromosome 20, Deletion 20p 0
              Chromosome 21 Monosomy 0
              Chromosome 21, Monosomy 21q22 0
              Chromosome 22, Microdeletion 22 q11 0
              Chromosome 3, Monosomy 3p 0
              Chromosome 3, Monosomy 3p14 p11 0
              Chromosome 3, Monosomy 3p2 0
              Chromosome 3, Monosomy 3p25 3
              Chromosome 3, Monosomy 3q21 23 0
              Chromosome 3, Monosomy 3q27 0
              Chromosome 4 Short Arm Deletion 0
              Chromosome 4, 4q Terminal Deletion Syndrome 0
              Chromosome 4, Monosomy 4p14 p16 0
              Chromosome 4, Monosomy 4q32 0
              Chromosome 4q- Syndrome 0
              Chromosome 6, Deletion 6q13 q15 0
              Chromosome 6, Monosomy 6p23 0
              Chromosome 6, Monosomy 6q 0
              Chromosome 6, Monosomy 6q1 0
              Chromosome 6, monosomy 6q2 0
              Chromosome 7, Monosomy 0
              Chromosome 7, Monosomy 7q2 0
              Chromosome 7, Monosomy 7q21 0
              Chromosome 7, monosomy 7q3 0
              Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 25
              Chromosome 8 Deletion + 0
              Chromosome 8, Monosomy 8p 0
              Chromosome 8, Monosomy 8p23 1 0
              Chromosome 8, Monosomy 8q 0
              Chromosome 8p Deletion Syndrome (partial) 0
              Chromosome 9, Partial Monosomy 9p 0
              Deletion 13q Syndrome, Partial 0
              Deletion 6q16 q21 0
              Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia 1
              Male Sterility due to Y-Chromosome Deletions 0
              Prader-Willi-Like Syndrome Associated with Chromosome 6 0
              X Chromosome, Monosomy Xp22 pter 0
              X Chromosome, Monosomy Xq28 0
              chromosomal deletion syndrome + 1493
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Pathologic Processes 7983
        Chromosome Aberrations 2537
          Aneuploidy 1831
            Monosomy 1555
              Chromosome Deletion 1555
                16Q24.3 Microdeletion Syndrome 31
                7p2 Monosomy Syndrome 0
                CHROMOSOME 2p16.3 DELETION SYNDROME 1
                Chromosome 1, Deletion q21 q25 0
                Chromosome 1, Monosomy 1p 0
                Chromosome 1, Monosomy 1p22 p13 0
                Chromosome 1, Monosomy 1p31 p22 0
                Chromosome 1, Monosomy 1p32 0
                Chromosome 1, Monosomy 1p34 p32 0
                Chromosome 1, Monosomy 1q25 q32 0
                Chromosome 1, Monosomy 1q32 q42 0
                Chromosome 1, Monosomy 1q4 0
                Chromosome 10, Monosomy 10q 0
                Chromosome 11, Deletion 11p 0
                Chromosome 11p, Partial Deletion 0
                Chromosome 11q Partial Deletion 0
                Chromosome 12p Deletion 0
                Chromosome 12p Partial Deletion 0
                Chromosome 14q, Partial Deletions 0
                Chromosome 14q, Terminal Deletion 0
                Chromosome 15q, partial deletion 0
                Chromosome 17, Deletion 17q23 q24 0
                Chromosome 18, Deletion 18q23 0
                Chromosome 2, Monosomy 2p22 0
                Chromosome 2, Monosomy 2pter p24 0
                Chromosome 2, Monosomy 2q 0
                Chromosome 2, Monosomy 2q24 0
                Chromosome 20, Deletion 20p 0
                Chromosome 21 Monosomy 0
                Chromosome 21, Monosomy 21q22 0
                Chromosome 22, Microdeletion 22 q11 0
                Chromosome 3, Monosomy 3p 0
                Chromosome 3, Monosomy 3p14 p11 0
                Chromosome 3, Monosomy 3p2 0
                Chromosome 3, Monosomy 3p25 3
                Chromosome 3, Monosomy 3q21 23 0
                Chromosome 3, Monosomy 3q27 0
                Chromosome 4 Short Arm Deletion 0
                Chromosome 4, 4q Terminal Deletion Syndrome 0
                Chromosome 4, Monosomy 4p14 p16 0
                Chromosome 4, Monosomy 4q32 0
                Chromosome 4q- Syndrome 0
                Chromosome 6, Deletion 6q13 q15 0
                Chromosome 6, Monosomy 6p23 0
                Chromosome 6, Monosomy 6q 0
                Chromosome 6, Monosomy 6q1 0
                Chromosome 6, monosomy 6q2 0
                Chromosome 7, Monosomy 0
                Chromosome 7, Monosomy 7q2 0
                Chromosome 7, Monosomy 7q21 0
                Chromosome 7, monosomy 7q3 0
                Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 25
                Chromosome 8 Deletion + 0
                Chromosome 8, Monosomy 8p 0
                Chromosome 8, Monosomy 8p23 1 0
                Chromosome 8, Monosomy 8q 0
                Chromosome 8p Deletion Syndrome (partial) 0
                Chromosome 9, Partial Monosomy 9p 0
                Deletion 13q Syndrome, Partial 0
                Deletion 6q16 q21 0
                Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia 1
                Male Sterility due to Y-Chromosome Deletions 0
                Prader-Willi-Like Syndrome Associated with Chromosome 6 0
                X Chromosome, Monosomy Xp22 pter 0
                X Chromosome, Monosomy Xq28 0
                chromosomal deletion syndrome + 1493
paths to the root