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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:Monosomy
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Accession:DOID:9004684 term browser browse the term
Definition:The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
Synonyms:exact_synonym: Monosomies
 primary_id: MESH:D009006


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16Q24.3 Microdeletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700018B08Rik RIKEN cDNA 1700018B08 gene ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,257,515...122,271,077
Ensembl chr 8:122,257,519...122,271,059 		JBrowse link
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,502,209...123,544,626
Ensembl chr 8:123,502,225...123,544,619 		JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,301,376...123,303,646
Ensembl chr 8:123,301,374...123,303,648 		JBrowse link
G Banp BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,674,711...122,755,999
Ensembl chr 8:122,676,489...122,755,997 		JBrowse link
G Car5a carbonic anhydrase 5a, mitochondrial ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,642,874...122,671,651
Ensembl chr 8:122,642,865...122,671,643 		JBrowse link
G Cbfa2t3 CBFA2/RUNX1 translocation partner 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,351,875...123,426,069
Ensembl chr 8:123,351,880...123,425,848 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,575,113...123,594,136
Ensembl chr 8:123,574,705...123,594,136 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,294,754...123,299,869
Ensembl chr 8:123,294,754...123,300,293 		JBrowse link
G Cpne7 copine VII ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,844,054...123,861,924
Ensembl chr 8:123,844,113...123,861,921 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,202,882...123,209,831
Ensembl chr 8:123,202,882...123,210,877 		JBrowse link
G Cyba cytochrome b-245, alpha polypeptide ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669 		JBrowse link
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,276,182...122,305,607
Ensembl chr 8:122,276,179...122,305,545 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,304,976...123,338,226
Ensembl chr 8:123,304,981...123,338,202 		JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,147,912...123,150,820
Ensembl chr 8:123,148,759...123,150,378 		JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,457,298...122,517,822
Ensembl chr 8:122,456,362...122,521,015 		JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,523,047...122,556,322
Ensembl chr 8:122,523,052...122,556,308 		JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,317,177...122,325,499
Ensembl chr 8:122,317,100...122,325,499 		JBrowse link
G Mvd mevalonate (diphospho) decarboxylase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,160,335...123,170,161
Ensembl chr 8:123,160,340...123,170,161 		JBrowse link
G Pabpn1l poly(A)binding protein nuclear 1-like ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,346,210...123,349,474
Ensembl chr 8:123,346,210...123,349,478 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068 		JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,192,884...123,202,813
Ensembl chr 8:123,192,886...123,202,803 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983 		JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433 		JBrowse link
G Snai3 snail family zinc finger 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,180,943...123,187,546
Ensembl chr 8:123,180,947...123,187,472 		JBrowse link
G Trappc2l trafficking protein particle complex 2L ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,338,365...123,342,330
Ensembl chr 8:123,338,379...123,343,399 		JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,103,298...123,144,104
Ensembl chr 8:123,103,348...123,144,099 		JBrowse link
G Zcchc14 zinc finger, CCHC domain containing 14 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,325,442...122,379,662
Ensembl chr 8:122,325,442...122,379,640 		JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 9:20,338,457...20,371,465
Ensembl chr 9:20,339,745...20,371,458 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389 		JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,008,595...123,064,601
Ensembl chr 8:123,008,880...123,063,990 		JBrowse link
1q24 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930523C07Rik RIKEN cDNA 4930523C07 gene ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:159,871,950...159,906,157
Ensembl chr 1:159,871,952...159,907,778 		JBrowse link
G 4930558K02Rik RIKEN cDNA 4930558K02 gene ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:161,769,658...161,809,940
Ensembl chr 1:161,769,655...161,807,205 		JBrowse link
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 chr 1:156,386,160...156,477,189
Ensembl chr 1:156,386,356...156,477,138 		JBrowse link
G Acbd6 acyl-Coenzyme A binding domain containing 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,433,845...155,564,120
Ensembl chr 1:155,433,866...155,567,076 		JBrowse link
G Angptl1 angiopoietin-like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,666,495...156,688,648
Ensembl chr 1:156,666,132...156,688,648 		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 chr 1:160,970,017...160,998,077
Ensembl chr 1:160,970,261...160,998,068 		JBrowse link
G Astn1 astrotactin 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,189,647...158,519,351
Ensembl chr 1:158,189,843...158,519,351 		JBrowse link
G Atp1b1 ATPase, Na+/K+ transporting, beta 1 polypeptide ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:164,264,668...164,285,924
Ensembl chr 1:164,264,678...164,285,924 		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 chr 1:156,157,985...156,248,743
Ensembl chr 1:156,151,079...156,248,729 		JBrowse link
G BC034090 cDNA sequence BC034090 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,088,217...155,123,504
Ensembl chr 1:155,088,217...155,120,190 		JBrowse link
G Blzf1 basic leucine zipper nuclear factor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:164,117,368...164,135,056
Ensembl chr 1:164,117,369...164,135,058 		JBrowse link
G Brinp2 bone morphogenic protein/retinoic acid inducible neural-specific 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,072,835...158,185,096
Ensembl chr 1:158,072,839...158,183,896 		JBrowse link
G Cacna1e calcium channel, voltage-dependent, R type, alpha 1E subunit ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,266,552...154,760,374
Ensembl chr 1:154,266,477...154,760,247 		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 chr 1:160,029,171...160,040,391
Ensembl chr 1:160,029,937...160,040,445 		JBrowse link
G Ccdc181 coiled-coil domain containing 181 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:164,103,126...164,115,416
Ensembl chr 1:164,103,154...164,115,416 		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 chr 1:160,898,337...160,914,294
Ensembl chr 1:160,898,283...160,914,294 		JBrowse link
G Cep350 centrosomal protein 350 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,720,710...155,848,976
Ensembl chr 1:155,720,710...155,849,001 		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 chr 1:159,059,734...159,182,442
Ensembl chr 1:159,059,890...159,175,210 		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 chr 1:160,868,171...160,898,236
Ensembl chr 1:160,868,171...160,898,228 		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 chr 1:153,331,506...153,363,464
Ensembl chr 1:153,331,504...153,363,406 		JBrowse link
G Dnm3 dynamin 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:161,810,022...162,305,890
Ensembl chr 1:161,810,022...162,305,603 		JBrowse link
G Dnm3os dynamin 3, opposite strand ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,045,192...162,053,119
Ensembl chr 1:162,045,192...162,053,119 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846 		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 chr 1:155,951,702...156,033,027
Ensembl chr 1:155,951,712...156,032,596 		JBrowse link
G Fam20b FAM20B, glycosaminoglycan xylosylkinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,506,127...156,547,204
Ensembl chr 1:156,506,102...156,546,656 		JBrowse link
G Fasl Fas ligand ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		JBrowse link
G Firrm FIGNL1 interacting regulator of recombination and mitosis ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,773,409...163,822,377
Ensembl chr 1:163,773,562...163,822,365 		JBrowse link
G Fmo1 flavin containing monooxygenase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,657,130...162,694,170
Ensembl chr 1:162,657,130...162,694,179 		JBrowse link
G Fmo2 flavin containing monooxygenase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,701,886...162,726,327
Ensembl chr 1:162,701,886...162,726,295 		JBrowse link
G Fmo3 flavin containing monooxygenase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,781,368...162,812,097
Ensembl chr 1:162,781,369...162,812,097 		JBrowse link
G Fmo4 flavin containing monooxygenase 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,620,757...162,643,788
Ensembl chr 1:162,620,757...162,641,541 		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 chr 1:160,862,171...160,866,109
Ensembl chr 1:160,861,793...160,866,118 		JBrowse link
G Glul glutamate-ammonia ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:153,775,692...153,785,469
Ensembl chr 1:153,775,690...153,785,469 		JBrowse link
G Gm6185 predicted gene 6185 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:161,006,274...161,062,743
Ensembl chr 1:161,003,171...161,064,877 		JBrowse link
G Gorab golgin, RAB6-interacting ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,212,472...163,231,238
Ensembl chr 1:163,212,477...163,231,238 		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 chr 1:160,402,287...160,407,274
Ensembl chr 1:160,403,908...160,405,544 		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 chr 1:154,972,113...154,975,382
Ensembl chr 1:154,972,107...154,975,382 		JBrowse link
G Kifap3 kinesin-associated protein 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,589,711...163,744,676
Ensembl chr 1:163,607,152...163,744,678 		JBrowse link
G Klhl20 kelch-like 20 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:160,915,945...160,959,078
Ensembl chr 1:160,915,945...160,959,081 		JBrowse link
G Lamc1 laminin, gamma 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:153,094,668...153,208,532
Ensembl chr 1:153,094,668...153,208,532 		JBrowse link
G Lamc2 laminin, gamma 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:152,998,502...153,062,193
Ensembl chr 1:152,998,502...153,062,193 		JBrowse link
G Lhx4 LIM homeobox protein 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,573,777...155,627,481
Ensembl chr 1:155,573,777...155,627,430 		JBrowse link
G Mettl13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,359,694...162,376,098
Ensembl chr 1:162,359,696...162,376,120 		JBrowse link
G Mettl18 methyltransferase like 18 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,822,458...163,824,812
Ensembl chr 1:163,822,458...163,824,812 		JBrowse link
G Mir199a-2 microRNA 199a-2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,045,383...162,045,492
Ensembl chr 1:162,045,383...162,045,492 		JBrowse link
G Mir214 microRNA 214 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,050,937...162,051,046
Ensembl chr 1:162,050,937...162,051,046 		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 chr 1:155,003,620...155,022,560
Ensembl chr 1:155,003,023...155,022,560 		JBrowse link
G Mroh9 maestro heat-like repeat family member 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,851,871...162,913,239
Ensembl chr 1:162,851,871...162,913,239 		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 chr 1:160,022,785...160,028,756
Ensembl chr 1:160,022,785...160,029,740 		JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,466,719...162,477,263
Ensembl chr 1:162,466,724...162,477,262 		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 chr 1:152,675,904...152,712,743
Ensembl chr 1:152,675,945...152,712,742 		JBrowse link
G Nme7 NME/NM23 family member 7 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:164,135,091...164,264,870
Ensembl chr 1:164,131,690...164,265,294 		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 chr 1:152,830,532...152,995,012
Ensembl chr 1:152,830,744...152,995,007 		JBrowse link
G Nphs2 nephrosis 2, podocin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605 		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 chr 1:153,378,762...153,425,460
Ensembl chr 1:153,378,761...153,425,791 		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 chr 1:163,529,415...163,552,801
Ensembl chr 1:163,529,825...163,552,801 		JBrowse link
G Pappa2 pappalysin 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,539,297...158,788,019
Ensembl chr 1:158,539,297...158,808,060 		JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:161,796,757...161,801,029
Ensembl chr 1:161,796,755...161,801,004 		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 chr 1:161,067,682...161,078,780
Ensembl chr 1:161,067,682...161,078,789 		JBrowse link
G Prrc2c proline-rich coiled-coil 2C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,499,354...162,568,125
Ensembl chr 1:162,498,294...162,568,125 		JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,072,688...163,142,714
Ensembl chr 1:163,072,688...163,141,279 		JBrowse link
G Qsox1 quiescin Q6 sulfhydryl oxidase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,653,901...155,688,645
Ensembl chr 1:155,651,775...155,688,635 		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 chr 1:160,046,744...160,621,046
Ensembl chr 1:160,046,744...160,620,781 		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 chr 1:156,631,736...156,767,422
Ensembl chr 1:156,631,736...156,767,196 		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 chr 1:156,962,759...157,240,170
Ensembl chr 1:156,962,752...157,240,165 		JBrowse link
G Rc3h1 RING CCCH (C3H) domains 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:160,733,981...160,802,546
Ensembl chr 1:160,733,988...160,802,548 		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 chr 1:153,616,099...153,621,212
Ensembl chr 1:153,616,095...153,621,214 		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 chr 1:153,528,612...153,573,415
Ensembl chr 1:153,528,771...153,576,069 		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 chr 1:153,653,675...153,723,087
Ensembl chr 1:153,655,127...153,719,888 		JBrowse link
G Rnasel ribonuclease L (2', 5'-oligoisoadenylate synthetase-dependent) ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:153,625,089...153,644,441
Ensembl chr 1:153,625,172...153,639,967 		JBrowse link
G Scyl3 SCY1-like 3 (S. cerevisiae) ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,756,669...163,782,695
Ensembl chr 1:163,756,669...163,782,695 		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 chr 1:157,334,303...157,395,995
Ensembl chr 1:157,334,298...157,395,995 		JBrowse link
G Sele selectin, endothelial cell ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,867,200...163,886,056
Ensembl chr 1:163,875,773...163,885,246 		JBrowse link
G Sell selectin, lymphocyte ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,889,556...163,908,354
Ensembl chr 1:163,889,551...163,911,750 		JBrowse link
G Selp selectin, platelet ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595 		JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433 		JBrowse link
G Shcbp1l Shc SH2-domain binding protein 1-like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:153,300,846...153,328,320
Ensembl chr 1:153,300,908...153,328,320 		JBrowse link
G Slc19a2 solute carrier family 19 (thiamine transporter), member 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:164,076,615...164,092,954
Ensembl chr 1:164,076,615...164,092,954 		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 chr 1:152,712,746...152,783,212
Ensembl chr 1:152,712,746...152,778,397 		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 chr 1:156,255,678...156,301,898
Ensembl chr 1:156,252,095...156,301,901 		JBrowse link
G Stx6 syntaxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,034,374...155,083,405
Ensembl chr 1:155,034,461...155,084,002 		JBrowse link
G Suco SUN domain containing ossification factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:161,643,681...161,704,506
Ensembl chr 1:161,643,683...161,704,251 		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 chr 1:156,082,866...156,131,874
Ensembl chr 1:156,082,866...156,131,234 		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 chr 1:153,750,089...153,752,622
Ensembl chr 1:153,750,091...153,752,617 		JBrowse link
G Tex35 testis expressed 35 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,926,711...156,938,506
Ensembl chr 1:156,926,709...156,936,250 		JBrowse link
G Tnfsf18 tumor necrosis factor (ligand) superfamily, member 18 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:161,322,221...161,333,903
Ensembl chr 1:161,322,224...161,332,859 		JBrowse link
G Tnfsf4 tumor necrosis factor (ligand) superfamily, member 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:161,223,009...161,245,777
Ensembl chr 1:161,222,980...161,245,981 		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 chr 1:159,912,599...159,981,242
Ensembl chr 1:159,912,599...159,981,150 		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 chr 1:159,351,170...159,759,299
Ensembl chr 1:159,351,339...159,759,299 		JBrowse link
G Tor1aip1 torsin A interacting protein 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,880,328...155,912,226
Ensembl chr 1:155,880,345...155,912,226 		JBrowse link
G Tor1aip2 torsin A interacting protein 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,911,410...155,944,607
Ensembl chr 1:155,911,149...155,944,607 		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 chr 1:156,481,187...156,501,909
Ensembl chr 1:156,481,187...156,501,926 		JBrowse link
G Vamp4 vesicle-associated membrane protein 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,398,084...162,426,651
Ensembl chr 1:162,398,084...162,426,653 		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 chr 1:155,151,403...155,293,190
Ensembl chr 1:155,151,447...155,293,161 		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 chr 1:160,830,492...160,862,432
Ensembl chr 1:160,830,492...160,862,419 		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 chr 1:154,076,933...154,088,955
Ensembl chr 1:154,076,933...154,081,435 		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 chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G Six1 sine oculis-related homeobox 1 IMP RGD PMID:21364285 RGD:11561941 NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661 		JBrowse link
G Tbx1 T-box 1 IMP RGD PMID:16452092 RGD:155663362 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
3p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930590J08Rik RIKEN cDNA 4930590J08 gene ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,877,732...91,928,717
Ensembl chr 6:91,879,790...91,927,706 		JBrowse link
G Ankrd28 ankyrin repeat domain 28 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,418,687...31,552,374
Ensembl chr14:31,420,725...31,552,608 		JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,363,014...31,390,154
Ensembl chr14:31,362,985...31,390,536 		JBrowse link
G Capn7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,058,582...31,093,944
Ensembl chr14:31,058,595...31,093,943 		JBrowse link
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,819,983...91,876,830
Ensembl chr 6:91,855,034...91,876,824 		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 6:91,441,258...91,450,405
Ensembl chr 6:91,439,154...91,450,528 		JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,245,039...31,299,820
Ensembl chr14:31,245,039...31,313,300 		JBrowse link
G Dazl deleted in azoospermia-like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:50,586,422...50,600,627
Ensembl chr17:50,586,423...50,600,664 		JBrowse link
G Dph3 diphthamine biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,802,474...31,807,649
Ensembl chr14:31,802,523...31,807,686 		JBrowse link
G Eaf1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,217,036...31,231,815
Ensembl chr14:31,216,356...31,231,815 		JBrowse link
G Efhb EF hand domain family, member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:53,705,077...53,770,362
Ensembl chr17:53,705,917...53,770,349 		JBrowse link
G Fbln2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,189,442...91,249,522
Ensembl chr 6:91,189,437...91,249,522 		JBrowse link
G Fgd5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,955,809...92,052,986
Ensembl chr 6:91,955,859...92,052,985 		JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,750,739...31,784,161
Ensembl chr14:31,750,946...31,784,154 		JBrowse link
G Grip2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,738,433...91,820,884
Ensembl chr 6:91,738,490...91,804,231 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,329,183...31,364,201
Ensembl chr14:31,320,687...31,363,243 		JBrowse link
G Hdac11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,133,652...91,151,674
Ensembl chr 6:91,133,647...91,151,674 		JBrowse link
G Kat2b K(lysine) acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:53,873,802...53,979,749
Ensembl chr17:53,873,889...53,979,748 		JBrowse link
G Kcnh8 potassium voltage-gated channel, subfamily H (eag-related), member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:52,909,535...53,286,892
Ensembl chr17:52,909,737...53,286,222 		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 6:91,493,017...91,499,602
Ensembl chr 6:91,492,910...91,499,607 		JBrowse link
G Mettl6 methyltransferase 6, methylcytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,180,775...31,217,007
Ensembl chr14:31,195,535...31,216,997 		JBrowse link
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:92,146,493...92,161,004
Ensembl chr 6:92,146,506...92,161,014 		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 6:92,068,426...92,150,039
Ensembl chr 6:92,068,371...92,151,275 		JBrowse link
G Nup210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:90,990,049...91,095,920
Ensembl chr 6:90,990,050...91,093,811 		JBrowse link
G Oxnad1 oxidoreductase NAD-binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,807,301...31,825,160
Ensembl chr14:31,807,331...31,825,159 		JBrowse link
G Plcl2 phospholipase C-like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:50,815,893...50,995,522
Ensembl chr17:50,816,431...50,995,512 		JBrowse link
G Pp2d1 protein phosphatase 2C-like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:53,814,488...53,846,479
Ensembl chr17:53,814,488...53,846,479 		JBrowse link
G Rab5a RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:53,786,262...53,814,706
Ensembl chr17:53,786,262...53,814,708 		JBrowse link
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:92,163,693...92,191,874
Ensembl chr 6:92,163,693...92,191,906 		JBrowse link
G Rftn1 raftlin lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:50,300,287...50,497,525
Ensembl chr17:50,299,285...50,497,702 		JBrowse link
G Satb1 special AT-rich sequence binding protein 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:52,043,215...52,140,318
Ensembl chr17:52,043,215...52,140,318 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396 		JBrowse link
G Sh3bp5 SH3-domain binding protein 5 (BTK-associated) ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,094,571...31,158,056
Ensembl chr14:31,081,837...31,158,035 		JBrowse link
G Slc6a6 solute carrier family 6 (neurotransmitter transporter, taurine), member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,661,031...91,736,044
Ensembl chr 6:91,661,034...91,736,047 		JBrowse link
G Tbc1d5 TBC1 domain family, member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:51,040,155...51,488,228
Ensembl chr17:51,040,152...51,486,380 		JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 6:113,023,292...113,045,239
Ensembl chr 6:113,023,186...113,045,234 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,450,689...91,465,445
Ensembl chr 6:91,450,685...91,465,445 		JBrowse link
G Wnt7a wingless-type MMTV integration site family, member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,340,963...91,388,335
Ensembl chr 6:91,340,963...91,388,345 		JBrowse link
G Xpc xeroderma pigmentosum, complementation group C ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,466,287...91,492,870
Ensembl chr 6:91,466,287...91,492,870 		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 (sex determining region Y)-box 9 ISO ClinVar Annotator: match by term: 46,XY sex reversal 10 ClinVar
OMIM		 PMID:6620326 PMID:22051515 PMID:25604083 NCBI chr11:112,673,036...112,678,583
Ensembl chr11:112,673,050...112,678,586 		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 chr19:25,483,070...25,581,692
Ensembl chr19:25,482,982...25,581,693 		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 OMIM
ClinVar		 PMID:24193349 PMID:25741868 PMID:26740508 PMID:27598823 PMID:28135719 More... NCBI chr 1:177,269,892...177,278,330
Ensembl chr 1:177,269,917...177,278,330 		JBrowse link
chromosome 10q23 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1a bone morphogenetic protein receptor, type 1A IAGP OMIM:612242 MouseDO NCBI chr14:34,133,018...34,225,335
Ensembl chr14:34,132,691...34,225,298 		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:25741868 PMID:28492532 NCBI chr 2:105,527,665...105,734,909
Ensembl chr 2:105,531,372...105,734,909 		JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar NCBI chr 2:105,490,598...105,506,398 JBrowse link
G LOC107983946 Wt1 promoter region ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:8621495 PMID:12640141 PMID:16987884 PMID:23349334 PMID:25741868 More... NCBI chr 2:104,956,361...104,957,127 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 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		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 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961 		JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933427D06Rik RIKEN cDNA 4933427D06 gene ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 6:89,073,092...89,087,021
Ensembl chr 6:89,073,092...89,087,013 		JBrowse link
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,284,448...103,294,009
Ensembl chr14:103,284,413...103,294,009 		JBrowse link
G Alg11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,550,731...22,561,643
Ensembl chr 8:22,550,737...22,561,643 		JBrowse link
G Arl11 ADP-ribosylation factor-like 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,543,740...61,549,386
Ensembl chr14:61,547,202...61,549,385 		JBrowse link
G Atp7b ATPase, copper transporting, beta polypeptide ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321 		JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,283,880...99,311,976
Ensembl chr14:99,283,658...99,311,976 		JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,678,400...59,786,353
Ensembl chr14:59,678,421...59,823,213 		JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,459,791...22,464,071
Ensembl chr 8:22,459,791...22,464,057 		JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,796,837...59,835,433
Ensembl chr14:59,796,837...59,835,408 		JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,658,168...22,675,835
Ensembl chr 8:22,658,176...22,675,835 		JBrowse link
G Cln5 ceroid-lipofuscinosis, neuronal 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,307,679...103,315,064
Ensembl chr14:103,307,652...103,315,064 		JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,875,126...79,899,596
Ensembl chr14:79,875,130...79,899,610 		JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,871,202...101,877,907
Ensembl chr14:101,870,417...101,878,122 		JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,263,043...73,286,554
Ensembl chr14:73,263,043...73,286,554 		JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:98,024,294...98,407,208
Ensembl chr14:98,024,289...98,407,201 		JBrowse link
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:86,892,793...87,378,683
Ensembl chr14:86,892,803...87,378,671 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,314,070...99,337,217
Ensembl chr14:99,312,642...99,337,206 		JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,513,678...62,530,428
Ensembl chr14:62,513,680...62,530,496 		JBrowse link
G Ebpl emopamil binding protein-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,577,212...61,597,894
Ensembl chr14:61,569,191...61,597,888 		JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838 		JBrowse link
G Fam124a family with sequence similarity 124, member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,793,186...62,845,935
Ensembl chr14:62,793,186...62,845,935 		JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,318,470...103,337,016
Ensembl chr14:103,317,675...103,337,002 		JBrowse link
G Fndc3a fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:72,775,388...72,948,141
Ensembl chr14:72,775,386...72,947,443 		JBrowse link
G Gm4131 predicted gene 4131 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,699,937...62,718,604
Ensembl chr14:62,700,863...62,804,370 		JBrowse link
G Gm45935 predicted gene, 45935 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,618,282...59,678,329 JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,913,774...62,998,617
Ensembl chr14:62,913,779...62,998,618 		JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729 		JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,844,905...61,850,282
Ensembl chr14:61,844,906...61,850,275 		JBrowse link
G Kctd12 potassium channel tetramerisation domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,214,017...103,220,073
Ensembl chr14:103,214,017...103,220,073 		JBrowse link
G Klf12 Kruppel-like transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:100,103,617...100,719,681
Ensembl chr14:100,108,068...100,522,115 		JBrowse link
G Klf5 Kruppel-like transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,536,127...99,550,848
Ensembl chr14:99,536,127...99,552,472 		JBrowse link
G Klhl1 kelch-like 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:96,342,695...96,756,525
Ensembl chr14:96,340,172...96,756,538 		JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,602,635...61,677,396
Ensembl chr14:61,602,660...61,677,323 		JBrowse link
G Krtap21-1 keratin associated protein 21-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:89,199,915...89,200,662
Ensembl chr16:89,200,106...89,200,756 		JBrowse link
G Lmo7 LIM domain only 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,967,353...102,172,144
Ensembl chr14:101,967,386...102,172,146 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,475,331...73,477,798
Ensembl chr14:73,475,335...73,480,734 		JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,747,489...73,755,985
Ensembl chr14:73,747,465...73,756,289 		JBrowse link
G Mir15a microRNA 15a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,869,476...61,869,559
Ensembl chr14:61,869,476...61,869,559 		JBrowse link
G Mir16-1 microRNA 16-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,869,329...61,869,421
Ensembl chr14:61,869,329...61,869,421 		JBrowse link
G Mir759 microRNA 759 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,975,871...79,975,968
Ensembl chr14:79,975,871...79,975,968 		JBrowse link
G Mycbp2 MYC binding protein 2, E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,350,847...103,584,276
Ensembl chr14:103,350,847...103,584,250 		JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,271,980...99,283,898
Ensembl chr14:99,271,980...99,283,570 		JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,495,975...105,546,732
Ensembl chr14:105,496,008...105,546,732 		JBrowse link
G Nek3 NIMA (never in mitosis gene a)-related expressed kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,618,299...22,657,009
Ensembl chr 8:22,618,299...22,656,451 		JBrowse link
G Nek5 NIMA (never in mitosis gene a)-related expressed kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,563,631...22,615,443
Ensembl chr 8:22,563,632...22,615,069 		JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,756,320...73,785,682
Ensembl chr14:73,756,317...73,785,682 		JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,714,970...104,760,148
Ensembl chr14:104,714,972...104,760,081 		JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:80,237,742...80,260,581
Ensembl chr14:80,221,521...80,260,579 		JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:84,680,626...84,775,005
Ensembl chr14:84,681,003...84,776,442 		JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:88,702,183...88,708,832
Ensembl chr14:88,702,179...88,708,832 		JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:80,004,224...80,008,752
Ensembl chr14:80,004,215...80,008,752 		JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:93,251,136...94,132,619
Ensembl chr14:93,250,846...94,128,115 		JBrowse link
G Phf11d PHD finger protein 11D ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,584,646...59,608,004
Ensembl chr14:59,584,856...59,602,919 		JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,336,892...99,492,335
Ensembl chr14:99,336,860...99,491,929 		JBrowse link
G Pou4f1 POU domain, class 4, transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,699,111...104,705,554
Ensembl chr14:104,699,112...104,705,435 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,344,187...105,418,475
Ensembl chr14:105,344,187...105,414,763 		JBrowse link
G Rcbtb1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,438,471...59,474,716
Ensembl chr14:59,438,658...59,474,714 		JBrowse link
G Rcbtb2 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,376,185...73,421,495
Ensembl chr14:73,360,477...73,445,283 		JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,569,517...62,610,445
Ensembl chr14:62,530,038...62,610,441 		JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,750,499...103,850,782
Ensembl chr14:103,750,778...103,850,233 		JBrowse link
G Serpine3 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,900,743...62,929,692
Ensembl chr14:62,901,116...62,929,692 		JBrowse link
G Setdb2 SET domain, bifurcated 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,639,458...59,678,329
Ensembl chr14:59,639,458...59,678,333 		JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,887,664...103,942,343
Ensembl chr14:103,887,664...103,942,343 		JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:109,147,420...109,151,671
Ensembl chr14:109,146,232...109,151,590 		JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:110,984,770...110,992,640
Ensembl chr14:110,986,012...110,992,581 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:106,129,381...106,134,559
Ensembl chr14:106,129,381...106,134,253 		JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,769,300...61,794,335
Ensembl chr14:61,769,442...61,794,335 		JBrowse link
G Sucla2 succinate-Coenzyme A ligase, ADP-forming, beta subunit ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,790,226...73,833,584
Ensembl chr14:73,762,759...73,833,582 		JBrowse link
G Sugt1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,825,100...79,868,237
Ensembl chr14:79,825,131...79,872,636 		JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,679,800...101,846,717
Ensembl chr14:101,679,796...101,846,627 		JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:87,647,598...87,782,944
Ensembl chr14:87,654,075...87,782,940 		JBrowse link
G Thsd1 thrombospondin, type I, domain 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350 		JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,835,675...61,847,736
Ensembl chr14:61,835,696...61,843,395 		JBrowse link
G Uchl3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,891,387...101,933,561
Ensembl chr14:101,891,403...101,933,561 		JBrowse link
G Vps36 vacuolar protein sorting 36 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,682,849...22,710,969
Ensembl chr 8:22,682,825...22,710,859 		JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:63,075,110...63,198,958
Ensembl chr14:63,075,127...63,198,958 		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 7:64,151,444...64,403,620
Ensembl chr 7:64,151,454...64,403,626 		JBrowse link
G Atp10a ATPase, class V, type 10A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:58,305,896...58,479,783
Ensembl chr 7:58,305,914...58,479,168 		JBrowse link
G Auts2 autism susceptibility candidate 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25205402 PMID:25741868 PMID:28505103 NCBI chr 5:131,466,171...132,572,059
Ensembl chr 5:131,466,171...132,572,183 		JBrowse link
G Ccdc92b coiled-coil domain containing 92B ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr11:74,510,428...74,532,342
Ensembl chr11:74,510,431...74,532,342 		JBrowse link
G Chrna7 cholinergic receptor, nicotinic, alpha polypeptide 7 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr 7:62,748,440...62,862,274
Ensembl chr 7:62,748,440...62,862,317 		JBrowse link
G Cluh clustered mitochondria homolog ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr11:74,539,707...74,561,680
Ensembl chr11:74,540,321...74,561,673 		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:25741868 PMID:31690835 PMID:36901699 NCBI chr 7:55,491,556...55,582,381
Ensembl chr 7:55,491,493...55,582,350 		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 7:64,405,839...64,806,276
Ensembl chr 7:64,405,839...64,806,318 		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 7:57,057,417...57,240,808
Ensembl chr 7:57,057,420...57,159,807 		JBrowse link
G Gabrb3 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 7:57,240,266...57,478,550
Ensembl chr 7:57,069,440...57,478,550 		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 7:56,366,211...57,037,173
Ensembl chr 7:56,366,213...57,036,936 		JBrowse link
G Gm22046 predicted gene, 22046 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:59,398,704...59,398,797
Ensembl chr 7:59,398,704...59,398,797 		JBrowse link
G Gm22496 predicted gene, 22496 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:58,997,085...58,997,172
Ensembl chr 7:58,997,085...58,997,172 		JBrowse link
G Gm23471 predicted gene, 23471 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:59,084,025...59,084,103
Ensembl chr 7:59,084,025...59,084,103 		JBrowse link
G Gm26504 predicted gene, 26504 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:59,325,738...59,325,827
Ensembl chr 7:59,325,736...59,325,829 		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 7:55,699,872...55,884,373
Ensembl chr 7:55,699,944...55,881,548 		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 7:62,026,727...62,031,388
Ensembl chr 7:62,026,758...62,031,388 		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 7:62,067,341...62,069,901
Ensembl chr 7:62,067,341...62,069,887 		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 7:61,998,025...61,999,676
Ensembl chr 7:61,996,317...62,000,010 		JBrowse link
G Nipa1 non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human) ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:36901699 NCBI chr 7:55,628,232...55,669,348
Ensembl chr 7:55,627,315...55,669,702 		JBrowse link
G Nipa2 non imprinted in Prader-Willi/Angelman syndrome 2 homolog (human) ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:36901699 NCBI chr 7:55,581,014...55,612,241
Ensembl chr 7:55,581,035...55,612,224 		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 7:64,521,430...64,522,788
Ensembl chr 7:64,516,800...64,522,745 		JBrowse link
G Oca2 oculocutaneous albinism II ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:55,889,341...56,186,266
Ensembl chr 7:55,889,508...56,186,266 		JBrowse link
G Otud7a OTU domain containing 7A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr 7:63,094,493...63,415,980
Ensembl chr 7:63,094,499...63,408,776 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr11:74,564,775...74,615,210
Ensembl chr11:74,564,775...74,615,496 		JBrowse link
G Rap1gap2 RAP1 GTPase activating protein 2 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr11:74,274,182...74,501,796
Ensembl chr11:74,274,182...74,501,741 		JBrowse link
G Snhg14 small nucleolar RNA host gene 14 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:58,922,485...60,099,925 JBrowse link
G Snord107 small nucleolar RNA, C/D box 107 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:59,630,624...59,630,693
Ensembl chr 7:59,630,624...59,630,693 		JBrowse link
G Snord64 small nucleolar RNA, C/D box 64 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:59,628,559...59,628,604
Ensembl chr 7:59,628,556...59,628,622 		JBrowse link
G Snrpn small nuclear ribonucleoprotein N ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:59,632,243...60,099,925
Ensembl chr 7:59,632,243...59,789,967 		JBrowse link
G Snurf SNRPN upstream reading frame ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:59,632,243...59,654,947
Ensembl chr 7:59,623,897...59,654,812
Ensembl chr 7:59,623,897...59,654,812 		JBrowse link
G Tjp1 tight junction protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:64,945,913...65,177,629
Ensembl chr 7:64,945,913...65,177,529 		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:25741868 PMID:31690835 PMID:36901699 NCBI chr 7:55,443,873...55,481,207
Ensembl chr 7:55,443,902...55,481,425 		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 7:58,871,891...58,960,585
Ensembl chr 7:58,878,498...58,961,284 		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 polypeptide 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome		 CTD
ClinVar		 PMID:25741868 PMID:31690835 NCBI chr 7:62,748,440...62,862,274
Ensembl chr 7:62,748,440...62,862,317 		JBrowse link
G Fan1 FANCD2/FANCI-associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 7:63,994,627...64,023,874
Ensembl chr 7:63,996,506...64,023,843 		JBrowse link
G Klf13 Kruppel-like 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 7:63,536,099...63,588,663
Ensembl chr 7:63,536,099...63,588,663 		JBrowse link
G Mir211 microRNA 211 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 7:63,855,554...63,855,659
Ensembl chr 7:63,855,554...63,855,659 		JBrowse link
G Mtmr10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 7:63,937,443...63,990,556
Ensembl chr 7:63,937,401...63,990,554 		JBrowse link
G Otud7a OTU domain containing 7A IAGP
ISO		 OMIM:612001
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome		 MouseDO
ClinVar		 PMID:31690835 NCBI chr 7:63,094,493...63,415,980
Ensembl chr 7:63,094,499...63,408,776 		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 7:63,803,583...63,923,630
Ensembl chr 7:63,803,583...63,919,523 		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 9:56,755,940...56,779,199
Ensembl chr 9:56,755,943...56,771,963 		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 9:57,062,319...57,065,633
Ensembl chr 9:57,062,319...57,065,615 		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 9:56,772,388...56,807,154
Ensembl chr 9:56,772,317...56,807,154 		JBrowse link
G Imp3 IMP3, U3 small nucleolar ribonucleoprotein ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 9:56,844,784...56,845,682
Ensembl chr 9:56,844,759...56,845,682 		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 9:57,037,953...57,049,497
Ensembl chr 9:57,037,974...57,050,006 		JBrowse link
G Neil1 nei endonuclease VIII-like 1 (E. coli) ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 9:57,050,072...57,055,973
Ensembl chr 9:57,050,084...57,055,589 		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 9:56,902,252...56,970,092
Ensembl chr 9:56,902,207...56,970,091 		JBrowse link
G Sin3a transcriptional regulator, SIN3A (yeast) 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 OMIM
ClinVar		 PMID:18755302 PMID:19557438 PMID:21681106 PMID:25741868 PMID:27399968 More... NCBI chr 9:56,979,271...57,035,652
Ensembl chr 9:56,979,324...57,035,650 		JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 9:56,855,158...56,893,545
Ensembl chr 9:56,858,162...56,890,490 		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 9:56,824,472...56,835,726
Ensembl chr 9:56,824,477...56,835,655 		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 7:66,487,387...66,802,373
Ensembl chr 7:66,489,483...66,802,919 		JBrowse link
G Aldh1a3 aldehyde dehydrogenase family 1, subfamily A3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,040,640...66,077,225
Ensembl chr 7:66,040,638...66,077,265 		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 7:66,294,220...66,339,601
Ensembl chr 7:66,294,313...66,339,344 		JBrowse link
G Cers3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,382,864...66,473,440
Ensembl chr 7:66,393,252...66,473,439 		JBrowse link
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:65,759,240...65,823,546
Ensembl chr 7:65,759,263...65,823,546 		JBrowse link
G Igf1r insulin-like growth factor I receptor ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		JBrowse link
G Lins1 lines homolog 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,339,565...66,367,004
Ensembl chr 7:66,339,637...66,367,004 		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 7:67,163,158...67,295,084
Ensembl chr 7:67,163,158...67,295,016 		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 7:65,908,493...66,038,089
Ensembl chr 7:65,876,660...66,038,098 		JBrowse link
G Lysmd4 LysM, putative peptidoglycan-binding, domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,872,292...66,878,216
Ensembl chr 7:66,872,292...66,957,078 		JBrowse link
G Mef2a myocyte enhancer factor 2A ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,880,911...67,026,435
Ensembl chr 7:66,880,911...67,022,606 		JBrowse link
G Pgpep1l pyroglutamyl-peptidase I-like ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:67,881,154...67,914,232
Ensembl chr 7:67,886,358...67,913,981 		JBrowse link
G Synm synemin, intermediate filament protein ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:67,379,909...67,409,490
Ensembl chr 7:67,379,908...67,409,490 		JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:67,295,180...67,378,370
Ensembl chr 7:67,297,158...67,412,660 		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, Ca++ transporting, cardiac muscle, fast twitch 1 ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 7:126,045,032...126,062,245
Ensembl chr 7:126,045,030...126,062,280 		JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 7:126,090,880...126,106,991
Ensembl chr 7:126,090,880...126,102,609 		JBrowse link
G Cd19 CD19 antigen ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061 		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 7:126,146,083...126,165,538
Ensembl chr 7:126,145,627...126,165,583 		JBrowse link
G Lat linker for activation of T cells ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 7:125,962,999...125,968,877
Ensembl chr 7:125,962,996...125,968,742 		JBrowse link
G Nfatc2ip nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2 interacting protein ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 7:125,982,025...125,995,909
Ensembl chr 7:125,982,026...125,995,909 		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 7:126,027,596...126,045,079
Ensembl chr 7:126,027,931...126,048,417 		JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome, 220 kb | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29631267 PMID:31439647 NCBI chr 7:126,066,165...126,075,882
Ensembl chr 7:126,066,166...126,074,596 		JBrowse link
G Spns1 SPNS lysolipid transporter 1, lysophospholipid ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 7:125,969,232...125,977,179
Ensembl chr 7:125,969,232...125,976,622 		JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 7:126,086,445...126,089,903
Ensembl chr 7:126,086,533...126,089,903 		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 4930451I11Rik RIKEN cDNA 4930451I11 gene ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,429,640...126,430,712
Ensembl chr 7:126,429,640...126,430,811 		JBrowse link
G AI467606 expressed sequence AI467606 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,689,952...126,693,221
Ensembl chr 7:126,690,531...126,693,158 		JBrowse link
G Aldoa aldolase A, fructose-bisphosphate ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:126,394,406...126,399,537
Ensembl chr 7:126,394,406...126,399,923 		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 7:126,545,159...126,548,754
Ensembl chr 7:126,544,739...126,548,754 		JBrowse link
G Atp2a1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:126,045,032...126,062,245
Ensembl chr 7:126,045,030...126,062,280 		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 7:126,090,880...126,106,991
Ensembl chr 7:126,090,880...126,102,609 		JBrowse link
G Bola2 bolA family member 2 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar NCBI chr 7:126,295,172...126,295,865
Ensembl chr 7:126,294,573...126,298,970 		JBrowse link
G Cd19 CD19 antigen ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061 		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 7:126,575,630...126,579,671
Ensembl chr 7:126,575,086...126,579,673 		JBrowse link
G Cdiptos CDIP transferase, opposite strand ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:126,571,792...126,575,575
Ensembl chr 7:126,570,894...126,575,270 		JBrowse link
G Coro1a coronin, actin binding protein 1A ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,298,946...126,303,925
Ensembl chr 7:126,298,945...126,306,959 		JBrowse link
G Doc2a double C2, alpha ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,446,525...126,451,877
Ensembl chr 7:126,446,588...126,451,877 		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 7:126,146,083...126,165,538
Ensembl chr 7:126,145,627...126,165,583 		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 7:126,365,586...126,374,817
Ensembl chr 7:126,365,506...126,374,821 		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 7:126,461,155...126,464,549
Ensembl chr 7:126,461,144...126,464,549 		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 7:126,450,756...126,461,544
Ensembl chr 7:126,450,132...126,461,549 		JBrowse link
G Kctd13 potassium channel tetramerisation domain containing 13 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,528,051...126,544,781
Ensembl chr 7:126,528,051...126,544,803 		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 7:126,626,901...126,641,639
Ensembl chr 7:126,626,901...126,641,643 		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 7:125,962,999...125,968,877
Ensembl chr 7:125,962,996...125,968,742 		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 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991 		JBrowse link
G Maz MYC-associated zinc finger protein (purine-binding transcription factor) ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,621,306...126,626,177
Ensembl chr 7:126,621,302...126,626,209 		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 7:126,586,036...126,613,729
Ensembl chr 7:126,586,032...126,613,793 		JBrowse link
G Nfatc2ip nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2 interacting protein ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:125,982,025...125,995,909
Ensembl chr 7:125,982,026...125,995,909 		JBrowse link
G Pagr1a PAXIP1 associated glutamate rich protein 1A ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,614,223...126,616,524
Ensembl chr 7:126,614,205...126,616,524
Ensembl chr 7:126,614,205...126,616,524 		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 7:126,385,038...126,391,729
Ensembl chr 7:126,385,038...126,391,668 		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 7:126,616,707...126,620,800
Ensembl chr 7:126,616,703...126,620,383 		JBrowse link
G Qprt quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,706,942...126,721,201
Ensembl chr 7:126,706,286...126,721,398 		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 7:126,027,596...126,045,079
Ensembl chr 7:126,027,931...126,048,417 		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 7:126,549,665...126,569,782
Ensembl chr 7:126,549,735...126,569,778 		JBrowse link
G Sftpa1 surfactant associated protein A1 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409 		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 7:126,066,165...126,075,882
Ensembl chr 7:126,066,166...126,074,596 		JBrowse link
G Slx1b SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae) ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 7:126,288,099...126,294,955
Ensembl chr 7:126,288,640...126,294,956 		JBrowse link
G Spn sialophorin ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,731,404...126,743,785
Ensembl chr 7:126,731,404...126,736,995 		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 7:125,969,232...125,977,179
Ensembl chr 7:125,969,232...125,976,622 		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 7:126,464,848...126,485,468
Ensembl chr 7:126,464,850...126,483,875 		JBrowse link
G Tbx6 T-box 6 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732 		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 7:126,413,213...126,429,391
Ensembl chr 7:126,396,840...126,429,391 		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 7:126,485,391...126,527,993
Ensembl chr 7:126,485,343...126,522,089 		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 7:126,086,445...126,089,903
Ensembl chr 7:126,086,533...126,089,903 		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 7:126,376,135...126,379,682
Ensembl chr 7:126,376,127...126,379,686 		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 7:126,649,328...126,651,847
Ensembl chr 7:126,649,328...126,686,500 		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 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 7:120,556,259...120,581,535
Ensembl chr 7:120,556,259...120,581,535 		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 7:120,442,080...120,506,441
Ensembl chr 7:120,442,054...120,506,673 		JBrowse link
G Mosmo modulator of smoothened ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 7:120,276,814...120,334,079
Ensembl chr 7:120,276,841...120,334,077 		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 7:120,258,126...120,276,785
Ensembl chr 7:120,257,954...120,269,566 		JBrowse link
G Polr3e polymerase (RNA) III (DNA directed) polypeptide E ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 7:120,516,960...120,546,658
Ensembl chr 7:120,516,967...120,546,655 		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 7:120,408,853...120,431,122
Ensembl chr 7:120,411,588...120,430,416 		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 7:120,234,412...120,258,746
Ensembl chr 7:120,234,399...120,258,747 		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 7:120,336,554...120,404,769
Ensembl chr 7:120,338,541...120,404,965 		JBrowse link
chromosome 16q22 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933405L10Rik RIKEN cDNA 4933405L10 gene ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 8:106,434,921...106,436,877
Ensembl chr 8:106,434,287...106,436,878 		JBrowse link
G Acd adrenocortical dysplasia ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 8:106,424,789...106,427,748
Ensembl chr 8:106,422,492...106,427,734 		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 chr 8:106,412,642...106,424,827
Ensembl chr 8:106,412,906...106,424,819 		JBrowse link
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 8:106,351,135...106,409,554
Ensembl chr 8:106,363,200...106,409,554 		JBrowse link
G Enkd1 enkurin domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 8:106,430,281...106,435,358
Ensembl chr 8:106,430,283...106,434,842 		JBrowse link
G Gfod2 glucose-fructose oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 8:106,440,676...106,485,299
Ensembl chr 8:106,440,486...106,485,296 		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 chr 8:106,427,780...106,430,126
Ensembl chr 8:106,427,780...106,430,128 		JBrowse link
G Ranbp10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 8:106,494,940...106,560,463
Ensembl chr 8:106,494,940...106,553,982 		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 chr11:104,224,327...104,360,584
Ensembl chr11:104,224,055...104,359,687 		JBrowse link
G Trp53 transformation related protein 53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14961032 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		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 chr11:80,074,652...80,090,581
Ensembl chr11:80,074,677...80,090,583 		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 chr11:84,313,682...84,404,433
Ensembl chr11:84,313,681...84,404,348 		JBrowse link
G Acaca acetyl-Coenzyme A carboxylase alpha ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:84,020,461...84,292,477
Ensembl chr11:84,020,498...84,292,477 		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 chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181 		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 chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509 		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 chr11:83,831,659...83,853,914
Ensembl chr11:83,832,888...83,853,914 		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 chr11:84,711,547...84,719,880
Ensembl chr11:84,711,682...84,719,820 		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 chr11:83,938,859...83,960,016
Ensembl chr11:83,938,867...83,960,087 		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 chr11:84,723,187...84,761,668
Ensembl chr11:84,723,187...84,761,643 		JBrowse link
G Gm11437 predicted gene 11437 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:84,039,187...84,058,302
Ensembl chr11:84,039,177...84,058,302 		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 chr11:83,741,035...83,796,743
Ensembl chr11:83,740,889...83,796,645 		JBrowse link
G Lhx1 LIM homeobox protein 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:84,408,801...84,416,360
Ensembl chr11:84,409,110...84,416,361 		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 chr11:84,703,887...84,710,341
Ensembl chr11:84,703,887...84,710,341 		JBrowse link
G Mrpl45 mitochondrial ribosomal protein L45 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr11:97,205,749...97,220,746
Ensembl chr11:97,206,542...97,220,746 		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 chr11:84,770,996...84,802,052
Ensembl chr11:84,770,974...84,802,052 		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 chr11:84,767,139...84,771,111
Ensembl chr11:84,767,141...84,771,111 		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 chr11:83,855,217...83,935,404
Ensembl chr11:83,855,254...83,935,404 		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 chr11:83,969,746...84,020,466
Ensembl chr11:83,969,746...84,020,426 		JBrowse link
G Znhit3 zinc finger, HIT type 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:84,801,776...84,807,192
Ensembl chr11:84,801,776...84,807,192 		JBrowse link
chromosome 17q23.1-q23.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO ClinVar Annotator: match by term: Chromosome 17q23.1-q23.2 deletion syndrome ClinVar PMID:12325075 PMID:17052934 PMID:17718830 PMID:19798636 PMID:21546317 More... NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180 		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 AAA ATPase 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,537,830...67,582,277
Ensembl chr18:67,537,834...67,582,242 		JBrowse link
G Akain1 A kinase anchor inhibitor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:69,744,906...69,796,228
Ensembl chr17:69,746,321...69,796,228 		JBrowse link
G Ankrd12 ankyrin repeat domain 12 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:66,272,698...66,386,242
Ensembl chr17:66,272,693...66,384,084 		JBrowse link
G Apcdd1 adenomatosis polyposis coli down-regulated 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:63,055,398...63,086,886
Ensembl chr18:63,055,302...63,094,250 		JBrowse link
G Arhgap28 Rho GTPase activating protein 28 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:68,149,701...68,311,185
Ensembl chr17:68,149,708...68,311,115 		JBrowse link
G Cep192 centrosomal protein 192 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,933,124...68,018,241
Ensembl chr18:67,933,177...68,018,241 		JBrowse link
G Cep76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,750,034...67,774,425
Ensembl chr18:67,750,870...67,774,406 		JBrowse link
G Chmp1b charged multivesicular body protein 1B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,338,430...67,340,958
Ensembl chr18:67,338,437...67,340,960 		JBrowse link
G Cidea cell death-inducing DNA fragmentation factor, alpha subunit-like effector A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,476,634...67,500,864
Ensembl chr18:67,476,674...67,500,855 		JBrowse link
G Dlgap1 DLG associated protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:70,276,068...71,128,408
Ensembl chr17:70,276,068...71,128,408 		JBrowse link
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:71,559,167...71,618,551
Ensembl chr17:71,559,167...71,618,973 		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 chr17:69,382,642...69,596,986
Ensembl chr17:69,382,678...69,596,984 		JBrowse link
G Fam210a family with sequence similarity 210, member A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:68,393,248...68,433,404
Ensembl chr18:68,393,258...68,433,404 		JBrowse link
G Gnal guanine nucleotide binding protein, alpha stimulating, olfactory type ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,221,369...67,359,863
Ensembl chr18:67,221,287...67,359,863 		JBrowse link
G Impa2 inositol monophosphatase 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,422,246...67,454,375
Ensembl chr18:67,422,256...67,455,542 		JBrowse link
G L3mbtl4 L3MBTL4 histone methyl-lysine binding protein ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:68,579,893...69,091,073
Ensembl chr17:68,580,792...69,087,081 		JBrowse link
G Lama1 laminin, alpha 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:68,004,129...68,129,640
Ensembl chr17:68,004,254...68,129,642 		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 chr18:68,065,345...68,393,621
Ensembl chr18:68,066,328...68,401,701 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:71,490,527...71,556,813
Ensembl chr17:71,489,555...71,556,812 		JBrowse link
G Lrrc30 leucine rich repeat containing 30 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:67,937,960...67,939,718
Ensembl chr17:67,937,959...67,939,718 		JBrowse link
G Mc2r melanocortin 2 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:68,539,970...68,562,391
Ensembl chr18:68,539,978...68,562,391 		JBrowse link
G Mc5r melanocortin 5 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:68,469,811...68,475,517
Ensembl chr18:68,470,575...68,475,517 		JBrowse link
G Mppe1 metallophosphoesterase 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,358,119...67,378,901
Ensembl chr18:67,358,114...67,378,901 		JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:66,643,975...66,760,672
Ensembl chr17:66,643,977...66,756,745 		JBrowse link
G Myl12a myosin, light chain 12A, regulatory, non-sarcomeric ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:71,300,788...71,309,528
Ensembl chr17:71,300,651...71,309,873 		JBrowse link
G Myl12b myosin, light chain 12B, regulatory ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:71,280,958...71,297,511
Ensembl chr17:71,280,128...71,297,885 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:71,326,455...71,433,851
Ensembl chr17:71,309,628...71,433,851 		JBrowse link
G Napg N-ethylmaleimide sensitive fusion protein attachment protein gamma ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:63,110,910...63,132,521
Ensembl chr18:63,110,902...63,132,521 		JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:66,385,790...66,408,554
Ensembl chr17:66,385,633...66,408,554 		JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:63,143,284...63,520,787
Ensembl chr18:63,143,284...63,520,254 		JBrowse link
G Ppp4r1 protein phosphatase 4, regulatory subunit 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:66,089,253...66,148,921
Ensembl chr17:66,089,568...66,148,921 		JBrowse link
G Prelid3a PRELI domain containing 3A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,595,119...67,613,651
Ensembl chr18:67,597,936...67,612,905 		JBrowse link
G Psmg2 proteasome (prosome, macropain) assembly chaperone 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,774,657...67,787,251
Ensembl chr18:67,774,669...67,787,232 		JBrowse link
G Ptpn2 protein tyrosine phosphatase, non-receptor type 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,798,571...67,857,697
Ensembl chr18:67,798,581...67,857,665 		JBrowse link
G Ptprm protein tyrosine phosphatase receptor type M ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:66,973,843...67,661,486
Ensembl chr17:66,973,942...67,661,452 		JBrowse link
G Rab12 RAB12, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:66,801,507...66,826,712
Ensembl chr17:66,801,507...66,826,724 		JBrowse link
G Rab31 RAB31, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:65,958,721...66,079,747
Ensembl chr17:65,958,724...66,079,747 		JBrowse link
G Ralbp1 ralA binding protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:66,155,410...66,192,750
Ensembl chr17:66,155,413...66,192,793 		JBrowse link
G Rnmt RNA (guanine-7-) methyltransferase ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:68,433,406...68,457,923
Ensembl chr18:68,433,426...68,457,923 		JBrowse link
G Seh1l SEH1-like (S. cerevisiae ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,907,946...67,928,557
Ensembl chr18:67,907,946...67,928,557 		JBrowse link
G Smchd1 SMC hinge domain containing 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:71,651,484...71,782,361
Ensembl chr17:71,651,484...71,782,338 		JBrowse link
G Spire1 spire type actin nucleation factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,621,279...67,745,880
Ensembl chr18:67,621,279...67,743,860 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:71,151,200...71,160,527
Ensembl chr17:71,151,200...71,160,541 		JBrowse link
G Tmem200c transmembrane protein 200C ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:69,144,084...69,150,133
Ensembl chr17:69,133,618...69,150,134 		JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,523,801...67,535,819
Ensembl chr18:67,523,787...67,535,819 		JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:66,230,060...66,258,198
Ensembl chr17:66,228,967...66,258,221 		JBrowse link
G Txndc2 thioredoxin domain containing 2 (spermatozoa) ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:65,944,498...65,955,871
Ensembl chr17:65,944,502...65,949,163 		JBrowse link
G Vapa vesicle-associated membrane protein, associated protein A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:65,887,048...65,925,441
Ensembl chr17:65,885,322...65,920,550 		JBrowse link
G Zbtb14 zinc finger and BTB domain containing 14 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:69,690,170...69,697,747
Ensembl chr17:69,690,045...69,698,194 		JBrowse link
chromosome 18q deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2700062C07Rik RIKEN cDNA 2700062C07 gene ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:24,603,928...24,610,824
Ensembl chr18:24,603,907...24,610,855 		JBrowse link
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:80,169,523...80,195,284
Ensembl chr18:80,169,526...80,194,697 		JBrowse link
G Ankrd29 ankyrin repeat domain 29 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:12,385,414...12,439,067
Ensembl chr18:12,385,419...12,438,854 		JBrowse link
G Aqp4 aquaporin 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039 		JBrowse link
G Ark2c arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:77,543,806...77,652,832
Ensembl chr18:77,543,806...77,652,857 		JBrowse link
G Ark2n arkadia (RNF111) N-terminal like PKA signaling regulator 2N ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:77,719,184...77,802,190
Ensembl chr18:77,719,193...77,802,186 		JBrowse link
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:22,477,195...22,663,284
Ensembl chr18:22,477,303...22,663,072 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:77,861,468...77,870,569
Ensembl chr18:77,861,429...77,870,569 		JBrowse link
G Atp9b ATPase, class II, type 9B ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:80,777,356...80,977,291
Ensembl chr18:80,777,356...80,977,275 		JBrowse link
G AW554918 expressed sequence AW554918 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:25,301,825...25,600,378
Ensembl chr18:25,302,056...25,600,378 		JBrowse link
G B4galt6 UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:20,817,656...20,879,461
Ensembl chr18:20,817,656...20,879,461 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Cabyr calcium binding tyrosine phosphorylation regulated ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:12,874,141...12,888,203
Ensembl chr18:12,873,379...12,888,317 		JBrowse link
G Cbln2 cerebellin 2 precursor protein ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:86,727,226...86,736,410
Ensembl chr18:86,729,235...86,736,408 		JBrowse link
G Ccdc178 coiled coil domain containing 178 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:21,943,954...22,304,453
Ensembl chr18:21,943,950...22,304,499 		JBrowse link
G Cd226 CD226 antigen ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:89,195,078...89,290,356
Ensembl chr18:89,195,091...89,290,353 		JBrowse link
G Cdh19 cadherin 19, type 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:110,811,802...110,905,331
Ensembl chr 1:110,816,056...110,905,314 		JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:16,721,934...16,942,303
Ensembl chr18:16,721,934...16,942,303 		JBrowse link
G Cdh20 cadherin 20 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:104,696,245...104,923,202
Ensembl chr 1:104,696,254...104,923,206 		JBrowse link
G Cdh7 cadherin 7, type 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:109,909,967...110,073,002
Ensembl chr 1:109,910,161...110,067,887 		JBrowse link
G Celf4 CUGBP, Elav-like family member 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:25,610,677...25,887,577
Ensembl chr18:25,610,689...25,887,214 		JBrowse link
G Chst9 carbohydrate sulfotransferase 9 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:15,584,830...15,893,214
Ensembl chr18:15,584,981...15,893,214 		JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:84,628,509...84,668,359
Ensembl chr18:84,628,634...84,668,220 		JBrowse link
G Cndp2 CNDP dipeptidase 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:84,685,590...84,703,827
Ensembl chr18:84,685,590...84,703,827 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:80,451,174...80,522,959
Ensembl chr18:80,451,174...80,512,910 		JBrowse link
G Ctif CBP80/20-dependent translation initiation factor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:75,564,279...75,830,762
Ensembl chr18:75,564,295...75,830,625 		JBrowse link
G Cyb5a cytochrome b5 type A (microsomal) ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:84,869,463...84,897,996
Ensembl chr18:84,856,829...84,897,996 		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 chr18:84,737,133...84,762,820
Ensembl chr18:84,737,361...84,758,561 		JBrowse link
G Dok6 docking protein 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:89,310,547...89,787,664
Ensembl chr18:89,310,548...89,787,652 		JBrowse link
G Dsc1 desmocollin 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:20,216,528...20,247,830
Ensembl chr18:20,217,241...20,247,928 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:20,163,690...20,192,611
Ensembl chr18:20,163,690...20,192,611 		JBrowse link
G Dsc3 desmocollin 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:20,093,987...20,135,465
Ensembl chr18:20,093,987...20,135,408 		JBrowse link
G Dsel dermatan sulfate epimerase-like ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:111,786,431...111,792,782
Ensembl chr 1:111,786,432...111,792,648 		JBrowse link
G Dsg1a desmoglein 1 alpha ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:20,443,982...20,476,407
Ensembl chr18:20,443,868...20,476,407 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:20,691,247...20,737,583
Ensembl chr18:20,691,131...20,737,578 		JBrowse link
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:20,643,331...20,674,367
Ensembl chr18:20,643,331...20,680,516 		JBrowse link
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:20,569,234...20,606,191
Ensembl chr18:20,569,232...20,604,878 		JBrowse link
G Dtna dystrobrevin alpha ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:23,443,063...23,792,776
Ensembl chr18:23,548,192...23,792,772 		JBrowse link
G Dym dymeclin ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:75,151,772...75,420,037
Ensembl chr18:75,151,852...75,420,035 		JBrowse link
G Elp2 elongator acetyltransferase complex subunit 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:24,737,018...24,771,887
Ensembl chr18:24,735,923...24,772,564 		JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:77,981,618...78,080,539
Ensembl chr18:77,981,680...78,078,228 		JBrowse link
G Fbxo15 F-box protein 15 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:84,952,677...84,999,601
Ensembl chr18:84,952,907...84,999,598 		JBrowse link
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:24,841,445...25,266,564
Ensembl chr18:24,841,680...25,266,558 		JBrowse link
G Galnt1 polypeptide N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:24,338,401...24,419,873
Ensembl chr18:24,338,401...24,419,875 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:82,410,621...82,424,902
Ensembl chr18:82,410,505...82,424,902 		JBrowse link
G Garem1 GRB2 associated regulator of MAPK1 subtype 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:21,257,916...21,433,196
Ensembl chr18:21,260,258...21,433,195 		JBrowse link
G Gm17266 predicted gene, 17266 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:84,813,104...84,856,766
Ensembl chr18:84,816,683...84,854,841 		JBrowse link
G Haus1 HAUS augmin-like complex, subunit 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:77,844,977...77,861,602
Ensembl chr18:77,845,267...77,861,586 		JBrowse link
G Hdhd2 haloacid dehalogenase-like hydrolase domain containing 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:77,031,775...77,059,867
Ensembl chr18:77,031,788...77,063,003 		JBrowse link
G Hrh4 histamine receptor H4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:13,140,039...13,156,758
Ensembl chr18:13,140,047...13,155,939 		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 chr18:80,272,154...80,293,329
Ensembl chr18:80,272,973...80,290,317 		JBrowse link
G Ier3ip1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:77,017,723...77,029,310
Ensembl chr18:77,017,713...77,029,308 		JBrowse link
G Impact impact, RWD domain protein ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:13,087,747...13,126,007
Ensembl chr18:13,088,909...13,126,007 		JBrowse link
G Ino80c INO80 complex subunit C ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:24,237,818...24,254,876
Ensembl chr18:24,237,814...24,255,010 		JBrowse link
G Katnal2 katanin p60 subunit A-like 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:77,063,725...77,135,007
Ensembl chr18:77,064,844...77,135,004 		JBrowse link
G Kcng2 potassium voltage-gated channel, subfamily G, member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:80,337,731...80,407,469
Ensembl chr18:80,337,761...80,407,469 		JBrowse link
G Kctd1 potassium channel tetramerisation domain containing 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:15,101,742...15,284,503
Ensembl chr18:15,101,742...15,284,503 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:106,648,140...106,689,544
Ensembl chr 1:106,648,189...106,687,457 		JBrowse link
G Klhl14 kelch-like 14 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:21,683,436...21,805,986
Ensembl chr18:21,683,434...21,787,775 		JBrowse link
G Lama3 laminin, alpha 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:12,466,806...12,716,070
Ensembl chr18:12,466,876...12,716,070 		JBrowse link
G Loxhd1 lipoxygenase homology domains 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:77,369,354...77,530,628
Ensembl chr18:77,369,654...77,530,626 		JBrowse link
G Mapre2 microtubule-associated protein, RP/EB family, member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:23,885,390...24,026,918
Ensembl chr18:23,885,390...24,026,918 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762 		JBrowse link
G Mc4r melanocortin 4 receptor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 NCBI chr18:66,990,776...66,993,558
Ensembl chr18:66,990,775...66,993,577 		JBrowse link
G Mep1b meprin 1 beta ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:21,205,401...21,233,256
Ensembl chr18:21,194,980...21,233,256 		JBrowse link
G Mir187 microRNA 187 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:24,562,167...24,562,227
Ensembl chr18:24,562,167...24,562,227 		JBrowse link
G Mocos molybdenum cofactor sulfurase ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:24,786,538...24,834,634
Ensembl chr18:24,786,748...24,834,632 		JBrowse link
G Neto1 neuropilin (NRP) and tolloid (TLL)-like 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:86,411,110...86,524,482
Ensembl chr18:86,413,077...86,524,843 		JBrowse link
G Nfatc1 nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:80,649,418...80,756,286
Ensembl chr18:80,649,420...80,756,286 		JBrowse link
G Nol4 nucleolar protein 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:22,826,209...23,174,926
Ensembl chr18:22,826,238...23,174,710 		JBrowse link
G Osbpl1a oxysterol binding protein-like 1A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:12,886,955...13,074,933
Ensembl chr18:12,888,371...13,074,898 		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 chr18:80,090,045...80,162,855
Ensembl chr18:80,090,105...80,162,854 		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 chr 1:106,099,599...106,321,975
Ensembl chr 1:106,099,482...106,321,980 		JBrowse link
G Pias2 protein inhibitor of activated STAT 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:77,152,883...77,243,406
Ensembl chr18:77,152,904...77,241,496 		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 chr 1:105,446,147...105,591,466
Ensembl chr 1:105,446,147...105,591,402 		JBrowse link
G Pik3c3 phosphatidylinositol 3-kinase catalytic subunit type 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:30,390,441...30,481,179
Ensembl chr18:30,405,800...30,481,179 		JBrowse link
G Psma8 proteasome subunit alpha 8 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:14,839,192...14,895,358
Ensembl chr18:14,839,208...14,895,358 		JBrowse link
G Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:77,882,250...77,971,462
Ensembl chr18:77,877,614...77,970,579 		JBrowse link
G Ptgr3 prostaglandin reductase 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:84,106,250...84,115,579
Ensembl chr18:84,106,188...84,115,653 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:80,235,479...80,243,873
Ensembl chr18:80,235,480...80,243,873 		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 chr 1:105,591,570...105,682,856
Ensembl chr 1:105,591,586...105,682,916 		JBrowse link
G Rit2 Ras-like without CAAX 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:31,107,367...31,450,181
Ensembl chr18:31,106,542...31,450,343 		JBrowse link
G Rnf125 ring finger protein 125 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:21,077,672...21,120,416
Ensembl chr18:21,077,682...21,116,919 		JBrowse link
G Rnf138 ring finger protein 138 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:21,134,202...21,161,281
Ensembl chr18:21,134,398...21,161,281 		JBrowse link
G Rnf152 ring finger protein 152 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:105,204,642...105,284,665
Ensembl chr 1:105,204,639...105,284,435 		JBrowse link
G Rprd1a regulation of nuclear pre-mRNA domain containing 1A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:24,618,017...24,663,306
Ensembl chr18:24,618,017...24,663,261 		JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:88,989,860...89,149,140
Ensembl chr18:88,989,914...89,149,140 		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 chr18:81,010,204...81,030,236
Ensembl chr18:81,009,591...81,029,986 		JBrowse link
G Serpinb10 serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 10 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:107,456,724...107,488,469
Ensembl chr 1:107,456,757...107,477,001 		JBrowse link
G Serpinb11 serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 11 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:107,290,044...107,308,205
Ensembl chr 1:107,288,928...107,308,205 		JBrowse link
G Serpinb12 serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 12 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:106,862,179...106,884,810
Ensembl chr 1:106,862,179...106,884,810 		JBrowse link
G Serpinb13 serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 13 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:106,908,714...106,928,925
Ensembl chr 1:106,908,714...106,928,925 		JBrowse link
G Serpinb2 serine (or cysteine) peptidase inhibitor, clade B, member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:107,439,153...107,453,330
Ensembl chr 1:107,439,153...107,463,208 		JBrowse link
G Serpinb3a serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:106,973,317...106,980,033
Ensembl chr 1:106,973,317...106,980,033 		JBrowse link
G Serpinb3d serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3D ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:107,005,893...107,011,210
Ensembl chr 1:107,005,897...107,011,236 		JBrowse link
G Serpinb5 serine (or cysteine) peptidase inhibitor, clade B, member 5 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:106,788,905...106,811,078
Ensembl chr 1:106,788,903...106,811,078 		JBrowse link
G Serpinb7 serine (or cysteine) peptidase inhibitor, clade B, member 7 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:107,350,418...107,380,419
Ensembl chr 1:107,327,385...107,380,419 		JBrowse link
G Serpinb8 serine (or cysteine) peptidase inhibitor, clade B, member 8 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:107,517,668...107,536,708
Ensembl chr 1:107,517,736...107,538,214 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:78,793,593...79,153,659
Ensembl chr18:78,793,595...79,152,606 		JBrowse link
G Siglec15 sialic acid binding Ig-like lectin 15 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:78,085,708...78,100,656
Ensembl chr18:78,086,829...78,100,610 		JBrowse link
G Skor2 SKI family transcriptional corepressor 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:76,934,428...76,988,759
Ensembl chr18:76,944,100...76,988,037 		JBrowse link
G Slc14a1 solute carrier family 14 (urea transporter), member 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:78,143,306...78,185,334
Ensembl chr18:78,143,306...78,185,334 		JBrowse link
G Slc14a2 solute carrier family 14 (urea transporter), member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:78,189,359...78,640,165
Ensembl chr18:78,189,363...78,640,157 		JBrowse link
G Slc39a6 solute carrier family 39 (metal ion transporter), member 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:24,712,938...24,736,874
Ensembl chr18:24,712,938...24,736,874 		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 chr18:80,298,458...80,335,940
Ensembl chr18:80,296,507...80,335,940 		JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:76,369,898...76,444,819
Ensembl chr18:76,374,651...76,444,034 		JBrowse link
G Smad7 SMAD family member 7 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:75,500,436...75,529,006
Ensembl chr18:75,500,600...75,529,006 		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 chr18:88,883,293...88,912,623
Ensembl chr18:88,683,348...88,945,605 		JBrowse link
G Ss18 SS18, subunit of BAF chromatin remodeling complex ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:14,758,686...14,817,476
Ensembl chr18:14,757,255...14,815,971 		JBrowse link
G St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:77,273,529...77,343,146
Ensembl chr18:77,273,535...77,346,467 		JBrowse link
G Syt4 synaptotagmin IV ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:31,570,861...31,580,468
Ensembl chr18:31,570,861...31,580,459 		JBrowse link
G Taf4b TATA-box binding protein associated factor 4b ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:14,916,302...15,035,160
Ensembl chr18:14,916,302...15,033,416 		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 chr18:84,964,316...84,970,168
Ensembl chr18:84,964,316...84,969,649 		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 chr18:90,528,336...90,561,391
Ensembl chr18:90,528,278...90,561,391 		JBrowse link
G Tnfrsf11a tumor necrosis factor receptor superfamily, member 11a, NFKB activator ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:105,708,443...105,777,172
Ensembl chr 1:105,708,443...105,775,709 		JBrowse link
G Tpgs2 tubulin polyglutamylase complex subunit 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:25,260,280...25,301,990
Ensembl chr18:25,260,280...25,302,064 		JBrowse link
G Trappc8 trafficking protein particle complex 8 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:20,950,268...21,033,851
Ensembl chr18:20,950,280...21,029,150 		JBrowse link
G Tshz1 teashirt zinc finger family member 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:84,029,752...84,105,833
Ensembl chr18:84,029,752...84,105,831 		JBrowse link
G Ttc39c tetratricopeptide repeat domain 39C ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:12,716,168...12,872,461
Ensembl chr18:12,732,953...12,871,920 		JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:20,797,266...20,807,383
Ensembl chr18:20,798,337...20,807,378 		JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:80,250,041...80,269,066
Ensembl chr18:80,249,980...80,255,956
Ensembl chr18:80,249,980...80,255,956 		JBrowse link
G Vps4b vacuolar protein sorting 4B ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:106,698,518...106,724,455
Ensembl chr 1:106,691,801...106,724,458 		JBrowse link
G Zbtb7c zinc finger and BTB domain containing 7C ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:75,953,249...76,281,635
Ensembl chr18:75,953,249...76,281,635 		JBrowse link
G Zcchc2 zinc finger, CCHC domain containing 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:105,916,929...105,961,807
Ensembl chr 1:105,918,136...105,961,804 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:82,611,718...82,711,044
Ensembl chr18:82,611,718...82,711,008 		JBrowse link
G Zfp24 zinc finger protein 24 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:24,142,774...24,155,294
Ensembl chr18:24,142,759...24,153,867 		JBrowse link
G Zfp397 zinc finger protein 397 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:24,085,798...24,098,030
Ensembl chr18:24,087,749...24,097,730 		JBrowse link
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:84,225,826...84,612,815
Ensembl chr18:84,146,152...84,607,850 		JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:82,925,324...83,023,439
Ensembl chr18:82,928,788...83,023,439 		JBrowse link
G Zfp521 zinc finger protein 521 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:13,820,070...14,105,812
Ensembl chr18:13,820,070...14,105,844 		JBrowse link
G Zscan30 zinc finger and SCAN domain containing 30 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:24,065,597...24,120,362
Ensembl chr18:24,097,875...24,104,844 		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 7:33,840,121...33,868,014
Ensembl chr 7:33,840,113...33,869,024 		JBrowse link
chromosome 1p36 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2510039O18Rik RIKEN cDNA 2510039O18 gene ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,023,849...148,031,773
Ensembl chr 4:148,025,352...148,031,771 		JBrowse link
G 9430015G10Rik RIKEN cDNA 9430015G10 gene ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,194,455...156,211,720
Ensembl chr 4:156,194,439...156,211,722 		JBrowse link
G A430005L14Rik RIKEN cDNA A430005L14 gene ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,041,694...154,046,382
Ensembl chr 4:154,041,694...154,046,382 		JBrowse link
G Aadacl3 arylacetamide deacetylase like 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:144,180,341...144,190,326
Ensembl chr 4:144,180,341...144,190,326 		JBrowse link
G Aadacl4 arylacetamide deacetylase like 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:144,340,277...144,349,968
Ensembl chr 4:144,340,277...144,349,968 		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 4:155,976,332...155,991,708
Ensembl chr 4:155,976,279...155,991,708 		JBrowse link
G Acot7 acyl-CoA thioesterase 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,258,872...152,356,312
Ensembl chr 4:152,262,591...152,356,312 		JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,750,885...154,752,324
Ensembl chr 4:154,750,890...154,752,324 		JBrowse link
G Agmat agmatinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,473,986...141,486,574
Ensembl chr 4:141,473,983...141,486,574 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,249,747...156,281,997
Ensembl chr 4:156,249,747...156,281,945 		JBrowse link
G Agtrap angiotensin II, type I receptor-associated protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,161,518...148,172,521
Ensembl chr 4:148,161,518...148,172,488 		JBrowse link
G Ajap1 adherens junction associated protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:153,457,678...153,568,313
Ensembl chr 4:153,457,678...153,567,268 		JBrowse link
G Akr7a5 aldo-keto reductase family 7, member A5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:139,038,005...139,046,097
Ensembl chr 4:139,038,055...139,045,737 		JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:139,348,404...139,377,002
Ensembl chr 4:139,350,177...139,377,001 		JBrowse link
G Angptl7 angiopoietin-like 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,579,737...148,584,919
Ensembl chr 4:148,579,640...148,584,917 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,875,432...155,884,132
Ensembl chr 4:155,874,896...155,877,659 		JBrowse link
G Arhgef10l Rho guanine nucleotide exchange factor 10-like ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,241,796...140,393,318
Ensembl chr 4:140,241,796...140,393,323 		JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,362,926...154,384,535
Ensembl chr 4:154,362,943...154,386,133 		JBrowse link
G Arhgef19 Rho guanine nucleotide exchange factor 19 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,966,916...140,985,226
Ensembl chr 4:140,966,810...140,984,875 		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 4:155,825,097...155,845,579
Ensembl chr 4:155,825,098...155,845,550 		JBrowse link
G Atp13a2 ATPase type 13A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,711,812...140,734,641
Ensembl chr 4:140,714,184...140,734,641 		JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,915,709...155,917,555
Ensembl chr 4:155,915,729...155,917,587 		JBrowse link
G B3galt6 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,073,923...156,077,135
Ensembl chr 4:156,073,923...156,077,106 		JBrowse link
G C1qtnf12 C1q and tumor necrosis factor related 12 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,046,769...156,051,086
Ensembl chr 4:156,046,775...156,051,086 		JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:151,143,980...151,946,225
Ensembl chr 4:151,143,982...151,946,333 		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 4:138,920,210...139,019,131
Ensembl chr 4:138,920,210...139,019,129 		JBrowse link
G Car6 carbonic anhydrase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:150,271,472...150,285,592
Ensembl chr 4:150,271,472...150,285,789 		JBrowse link
G Casp9 caspase 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287 		JBrowse link
G Casz1 castor zinc finger 1 IAGP
ISO		 OMIM:607872
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome		 MouseDO
ClinVar		 NCBI chr 4:148,888,823...149,039,350
Ensembl chr 4:148,888,886...149,039,346 		JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,111,101...154,127,202
Ensembl chr 4:154,111,096...154,127,134 		JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,894,468...155,909,005
Ensembl chr 4:155,896,946...155,909,000 		JBrowse link
G Cdk11b cyclin dependent kinase 11B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,709,303...155,734,392
Ensembl chr 4:155,709,311...155,734,395 		JBrowse link
G Cela2a chymotrypsin-like elastase family, member 2A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,542,265...141,553,316
Ensembl chr 4:141,542,273...141,553,471 		JBrowse link
G Cenps centromere protein S ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,212,806...149,222,057
Ensembl chr 4:149,211,578...149,222,086 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,059,649...154,093,189
Ensembl chr 4:154,059,651...154,093,189 		JBrowse link
G Cfap107 cilia and flagella associated protein 107 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:144,144,759...144,165,363
Ensembl chr 4:144,144,759...144,165,342 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,493,647...155,551,280
Ensembl chr 4:155,493,647...155,551,280 		JBrowse link
G Chd5 chromodomain helicase DNA binding protein 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,423,103...152,474,651
Ensembl chr 4:152,423,108...152,474,651 		JBrowse link
G Clcn6 chloride channel, voltage-sensitive 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,088,716...148,123,270
Ensembl chr 4:148,088,716...148,123,278 		JBrowse link
G Clcnka chloride channel, voltage-sensitive Ka ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,111,922...141,126,017
Ensembl chr 4:141,111,921...141,126,035 		JBrowse link
G Clcnkb chloride channel, voltage-sensitive Kb ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,131,668...141,143,440
Ensembl chr 4:141,131,664...141,143,325 		JBrowse link
G Clstn1 calsyntenin 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,670,536...149,733,356
Ensembl chr 4:149,670,925...149,733,356 		JBrowse link
G Cort cortistatin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,209,491...149,211,132
Ensembl chr 4:149,209,491...149,211,220 		JBrowse link
G Cplane2 ciliogenesis and planar polarity effector 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,941,249...140,947,425
Ensembl chr 4:140,941,267...140,954,067 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,949,180...155,953,897
Ensembl chr 4:155,949,180...155,953,897 		JBrowse link
G Crocc ciliary rootlet coiled-coil, rootletin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,743,948...140,787,927
Ensembl chr 4:140,743,948...140,787,861 		JBrowse link
G Ctnnbip1 catenin beta interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,602,698...149,650,894
Ensembl chr 4:149,602,693...149,650,894 		JBrowse link
G Ctrc chymotrypsin C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,565,550...141,573,598
Ensembl chr 4:141,565,550...141,573,670 		JBrowse link
G Ddi2 DNA-damage inducible protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,410,874...141,450,730
Ensembl chr 4:141,404,860...141,450,743 		JBrowse link
G Dffa DNA fragmentation factor, alpha subunit ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,188,599...149,205,110
Ensembl chr 4:149,188,603...149,205,104 		JBrowse link
G Dffb DNA fragmentation factor, beta subunit ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,048,904...154,059,578
Ensembl chr 4:154,048,906...154,059,583 		JBrowse link
G Dhrs3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:144,618,712...144,654,214
Ensembl chr 4:144,619,397...144,654,779 		JBrowse link
G Disp3 dispatched RND transporter family member 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,320,890...148,372,653
Ensembl chr 4:148,324,721...148,372,422 		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 4:152,018,177...152,066,416
Ensembl chr 4:152,018,148...152,066,594 		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 4:141,487,498...141,518,255
Ensembl chr 4:141,487,500...141,518,242 		JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,182,894...148,215,582
Ensembl chr 4:148,182,894...148,215,155 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,931,829...155,943,760
Ensembl chr 4:155,931,859...155,943,760 		JBrowse link
G Efhd2 EF hand domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,585,453...141,602,231
Ensembl chr 4:141,585,453...141,602,231 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:139,079,898...139,106,046
Ensembl chr 4:139,079,898...139,106,041 		JBrowse link
G Eno1 enolase 1, alpha non-neuron ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:150,321,165...150,333,336
Ensembl chr 4:150,321,178...150,333,336
Ensembl chr18:150,321,178...150,333,336 		JBrowse link
G Epha2 Eph receptor A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,028,532...141,056,695
Ensembl chr 4:141,028,551...141,056,695 		JBrowse link
G Errfi1 ERBB receptor feedback inhibitor 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:150,938,253...150,953,346
Ensembl chr 4:150,938,376...150,953,349 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,204,788...152,236,871
Ensembl chr 4:152,204,788...152,236,828 		JBrowse link
G Exosc10 exosome component 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,642,870...148,666,854
Ensembl chr 4:148,642,886...148,666,858 		JBrowse link
G Faap20 Fanconi anemia core complex associated protein 20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,333,168...155,341,144
Ensembl chr 4:155,334,259...155,341,144 		JBrowse link
G Fam131c family with sequence similarity 131, member C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,095,503...141,111,485
Ensembl chr 4:141,095,531...141,111,486 		JBrowse link
G Fblim1 filamin binding LIM protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,303,373...141,333,351
Ensembl chr 4:141,303,373...141,333,407 		JBrowse link
G Fbxo2 F-box protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,244,605...148,250,874
Ensembl chr 4:148,245,078...148,250,881 		JBrowse link
G Fbxo42 F-box protein 42 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,875,216...140,931,373
Ensembl chr 4:140,875,224...140,931,373 		JBrowse link
G Fbxo44 F-box protein 44 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,237,256...148,244,663
Ensembl chr 4:148,237,257...148,244,939 		JBrowse link
G Fbxo6 F-box protein 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,230,173...148,236,592
Ensembl chr 4:148,230,173...148,236,597 		JBrowse link
G Fhad1 forkhead-associated phosphopeptide binding domain 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,617,741...141,742,438
Ensembl chr 4:141,617,749...141,742,393 		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 4:155,778,775...155,780,942
Ensembl chr 4:155,778,799...155,780,938 		JBrowse link
G Gabrd gamma-aminobutyric acid (GABA) A receptor, subunit delta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,469,437...155,482,528
Ensembl chr 4:155,469,437...155,482,569 		JBrowse link
G Gm13201 predicted gene 13201 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,140,315...148,160,194
Ensembl chr 4:148,126,406...148,159,946 		JBrowse link
G Gm17087 predicted gene 17087 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr17:8,784,489...8,785,858
Ensembl chr17:8,784,684...8,785,782 		JBrowse link
G Gm572 predicted gene 572 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,727,774...148,761,562
Ensembl chr 4:148,727,774...148,760,753 		JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), beta 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,575,514...155,643,726
Ensembl chr 4:155,575,818...155,643,726 		JBrowse link
G Gpr153 G protein-coupled receptor 153 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,358,563...152,369,798
Ensembl chr 4:152,358,689...152,369,794 		JBrowse link
G Gpr157 G protein-coupled receptor 157 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:150,171,960...150,190,457
Ensembl chr 4:150,171,822...150,190,384 		JBrowse link
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:150,063,931...150,093,480
Ensembl chr 4:150,063,932...150,093,480 		JBrowse link
G Hes2 hes family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,243,324...152,246,926
Ensembl chr 4:152,243,324...152,246,926 		JBrowse link
G Hes3 hes family bHLH transcription factor 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,369,707...152,376,133
Ensembl chr 4:152,370,429...152,376,119 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,042,358...155,046,829
Ensembl chr 4:155,045,380...155,046,828 		JBrowse link
G Hspb7 heat shock protein family, member 7 (cardiovascular) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,148,090...141,152,621
Ensembl chr 4:141,148,090...141,152,622 		JBrowse link
G Htr6 5-hydroxytryptamine (serotonin) receptor 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,787,017...138,802,881
Ensembl chr 4:138,788,419...138,802,881 		JBrowse link
G Icmt isoprenylcysteine carboxyl methyltransferase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,381,671...152,391,583
Ensembl chr 4:152,381,684...152,391,578 		JBrowse link
G Iffo2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:139,257,859...139,347,693
Ensembl chr 4:139,257,859...139,347,693 		JBrowse link
G Igsf21 immunoglobulin superfamily, member 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:139,754,163...139,974,294
Ensembl chr 4:139,754,157...139,974,095 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,954,006...155,973,561
Ensembl chr 4:155,954,003...155,973,560 		JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,283,881...156,285,275
Ensembl chr 4:156,283,912...156,285,253 		JBrowse link
G Kazn kazrin, periplakin interacting protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,829,701...142,801,231
Ensembl chr 4:141,829,701...142,205,056 		JBrowse link
G Kcnab2 potassium voltage-gated channel, shaker-related subfamily, beta member 2 IAGP
ISO		 OMIM:607872
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome		 MouseDO
ClinVar		 NCBI chr 4:152,475,201...152,561,991
Ensembl chr 4:152,475,199...152,562,367 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,260,776...149,392,762
Ensembl chr 4:149,260,776...149,392,150 		JBrowse link
G Klhdc7a kelch domain containing 7A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:139,689,484...139,695,337
Ensembl chr 4:139,687,531...139,695,337 		JBrowse link
G Klhl17 kelch-like 17 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,313,501...156,319,314
Ensembl chr 4:156,313,792...156,319,314 		JBrowse link
G Klhl21 kelch-like 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,093,348...152,102,134
Ensembl chr 4:152,093,260...152,102,137 		JBrowse link
G Lrrc38 leucine rich repeat containing 38 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:143,076,242...143,097,602
Ensembl chr 4:143,076,327...143,097,602 		JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,096,260...154,105,969
Ensembl chr 4:154,096,188...154,105,970 		JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,569,642...149,581,952
Ensembl chr 4:149,569,686...149,581,125 		JBrowse link
G Mad2l2 MAD2 mitotic arrest deficient-like 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,214,615...148,230,161
Ensembl chr 4:148,214,841...148,230,156 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,679,079...148,699,939
Ensembl chr 4:148,687,011...148,699,956 		JBrowse link
G Megf6 multiple EGF-like-domains 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,255,156...154,360,178
Ensembl chr 4:154,255,187...154,360,170 		JBrowse link
G Mfap2 microfibrillar-associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,737,735...140,743,284
Ensembl chr 4:140,737,729...140,743,295 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161 		JBrowse link
G Mib2 mindbomb E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,738,925...155,753,711
Ensembl chr 4:155,739,134...155,753,655 		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 4:138,829,125...138,858,667
Ensembl chr 4:138,829,125...138,858,424 		JBrowse link
G Miip migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:147,945,235...147,953,176
Ensembl chr 4:147,945,235...147,953,273 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,139,353...156,139,442
Ensembl chr 4:156,139,353...156,139,442 		JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,140,138...156,140,207
Ensembl chr 4:156,140,138...156,140,207 		JBrowse link
G Mir34a microRNA 34a ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:150,152,911...150,153,012
Ensembl chr 4:150,152,911...150,153,012 		JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,138,362...156,138,444
Ensembl chr 4:156,138,362...156,138,444 		JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,954,042...154,979,987
Ensembl chr 4:154,954,042...154,979,985 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,735,111...155,738,982
Ensembl chr 4:155,735,112...155,737,841 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,167,771...155,229,964
Ensembl chr 4:155,171,034...155,229,962 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,887,335...155,893,288
Ensembl chr 4:155,887,335...155,894,432 		JBrowse link
G Mrto4 mRNA turnover 4, ribosome maturation factor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:139,074,751...139,079,887
Ensembl chr 4:139,074,746...139,079,887 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		JBrowse link
G Mxra8 matrix-remodelling associated 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,924,137...155,928,559
Ensembl chr 4:155,924,137...155,928,545 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,646,838...155,675,458
Ensembl chr 4:155,646,835...155,675,458 		JBrowse link
G Nbl1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,809,602...138,820,437
Ensembl chr 4:138,809,595...138,820,304 		JBrowse link
G Necap2 NECAP endocytosis associated 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,793,823...140,805,672
Ensembl chr 4:140,793,823...140,805,668 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,552,026...149,569,667
Ensembl chr 4:149,552,029...149,569,659 		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 4:156,319,112...156,332,078
Ensembl chr 4:156,320,376...156,332,073 		JBrowse link
G Nol9 nucleolar protein 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,123,731...152,145,951
Ensembl chr 4:152,123,778...152,145,951 		JBrowse link
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,561,163...152,647,641
Ensembl chr 4:152,561,163...152,647,640 		JBrowse link
G Nppa natriuretic peptide type A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536 		JBrowse link
G Nppb natriuretic peptide type B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662 		JBrowse link
G Otud3 OTU domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,618,374...138,641,322
Ensembl chr 4:138,622,690...138,641,256 		JBrowse link
G Padi1 peptidyl arginine deiminase, type I ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,540,292...140,573,089
Ensembl chr 4:140,540,294...140,573,089 		JBrowse link
G Padi2 peptidyl arginine deiminase, type II ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,633,685...140,679,897
Ensembl chr 4:140,633,655...140,679,897 		JBrowse link
G Padi3 peptidyl arginine deiminase, type III ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,512,680...140,537,959
Ensembl chr 4:140,512,676...140,537,959 		JBrowse link
G Padi4 peptidyl arginine deiminase, type IV ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,472,819...140,501,514
Ensembl chr 4:140,473,176...140,501,547 		JBrowse link
G Padi6 peptidyl arginine deiminase, type VI ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,454,666...140,469,954
Ensembl chr 4:140,454,666...140,469,954 		JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,048,580...155,065,395
Ensembl chr 4:155,048,580...155,065,395 		JBrowse link
G Park7 Parkinson disease (autosomal recessive, early onset) 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:150,981,590...150,994,378
Ensembl chr 4:150,981,590...150,998,894 		JBrowse link
G Pax7 paired box 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:139,464,357...139,560,841
Ensembl chr 4:139,464,373...139,560,839 		JBrowse link
G Pdpn podoplanin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:142,993,979...143,026,134
Ensembl chr 4:142,994,001...143,026,134 		JBrowse link
G Per3 period circadian clock 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:151,081,475...151,129,167
Ensembl chr 4:151,088,109...151,129,122 		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 4:156,287,724...156,305,766
Ensembl chr 4:156,300,325...156,305,764 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,151,487...155,156,863
Ensembl chr 4:155,151,473...155,156,890 		JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,044,992...149,184,300
Ensembl chr 4:149,044,992...149,184,333 		JBrowse link
G Pgd phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,234,448...149,251,162
Ensembl chr 4:149,234,448...149,251,228 		JBrowse link
G Phf13 PHD finger protein 13 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,074,088...152,080,636
Ensembl chr 4:152,074,090...152,080,715 		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 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028 		JBrowse link
G Pla2g2a phospholipase A2, group IIA (platelets, synovial fluid) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,559,168...138,562,500
Ensembl chr 4:138,559,171...138,562,497 		JBrowse link
G Pla2g2c phospholipase A2, group IIC ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,452,636...138,471,886
Ensembl chr 4:138,452,103...138,473,443 		JBrowse link
G Pla2g2d phospholipase A2, group IID ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,503,046...138,509,363
Ensembl chr 4:138,503,046...138,509,357 		JBrowse link
G Pla2g2e phospholipase A2, group IIE ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,605,253...138,610,125
Ensembl chr 4:138,605,253...138,610,128 		JBrowse link
G Pla2g2f phospholipase A2, group IIF ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,477,842...138,484,932
Ensembl chr 4:138,477,844...138,484,937 		JBrowse link
G Pla2g5 phospholipase A2, group V ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,526,558...138,590,784
Ensembl chr 4:138,526,555...138,590,793 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,067,572...155,148,548
Ensembl chr 4:155,067,572...155,141,241 		JBrowse link
G Plekhg5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,156,890...152,199,855
Ensembl chr 4:152,156,955...152,199,857 		JBrowse link
G Plekhm2 pleckstrin homology domain containing, family M (with RUN domain) member 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,353,043...141,391,457
Ensembl chr 4:141,353,045...141,392,210 		JBrowse link
G Plekhn1 pleckstrin homology domain containing, family N member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,305,913...156,312,999
Ensembl chr 4:156,305,913...156,314,174 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:147,994,210...148,021,233
Ensembl chr 4:147,994,210...148,021,224 		JBrowse link
G Pramel1 PRAME like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:143,120,889...143,126,730
Ensembl chr 4:143,120,998...143,126,730 		JBrowse link
G Pramel13 PRAME like 13 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:144,118,244...144,135,037
Ensembl chr 4:144,118,244...144,135,034 		JBrowse link
G Pramel14 PRAME like 14 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:143,717,697...143,720,939
Ensembl chr 4:143,717,689...143,724,200 		JBrowse link
G Pramel15 PRAME like 15 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:144,099,330...144,104,503
Ensembl chr 4:144,099,330...144,104,530 		JBrowse link
G Pramel48 PRAME like 48 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:95,604,665...95,633,448
Ensembl chr 5:95,604,665...95,633,446 		JBrowse link
G Pramel52-ps PRAME like 52, pseudogene ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:94,487,609...94,532,938
Ensembl chr 5:94,487,608...94,532,938
Ensembl chr 5:94,487,608...94,532,938 		JBrowse link
G Prdm16 PR domain containing 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,400,579...154,721,851
Ensembl chr 4:154,400,582...154,721,330 		JBrowse link
G Prdm2 PR domain containing 2, with ZNF domain ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:142,833,961...142,939,560
Ensembl chr 4:142,833,961...142,939,565 		JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,344,579...155,445,856
Ensembl chr 4:155,344,586...155,445,818 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,980,884...154,983,522
Ensembl chr 4:154,979,961...154,983,592 		JBrowse link
G Pusl1 pseudouridylate synthase-like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,973,314...155,976,231
Ensembl chr 4:155,972,336...155,976,238 		JBrowse link
G Rbp7 retinol binding protein 7, cellular ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,534,144...149,550,919
Ensembl chr 4:149,534,144...149,539,435 		JBrowse link
G Rcc2 regulator of chromosome condensation 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,427,308...140,450,531
Ensembl chr 4:140,427,852...140,450,531 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,158,566...155,170,840
Ensembl chr 4:155,158,567...155,170,839 		JBrowse link
G Rere arginine glutamic acid dipeptide (RE) repeats ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:150,365,372...150,706,423
Ensembl chr 4:150,366,103...150,706,423 		JBrowse link
G Rnf186 ring finger protein 186 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,694,430...138,695,676
Ensembl chr 4:138,694,423...138,695,676 		JBrowse link
G Rnf207 ring finger protein 207 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,391,475...152,403,686
Ensembl chr 4:152,391,476...152,403,450 		JBrowse link
G Rnf223 ring finger 223 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,214,972...156,217,874
Ensembl chr 4:156,214,970...156,217,877 		JBrowse link
G Rpl22 ribosomal protein L22 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,408,893...152,418,539
Ensembl chr 4:152,410,199...152,418,528 		JBrowse link
G Rsc1a1 regulatory solute carrier protein, family 1, member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,410,874...141,413,027
Ensembl chr 4:141,411,162...141,412,910 		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 4:156,331,423...156,342,409
Ensembl chr 4:156,331,423...156,340,717 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,077,300...156,098,067
Ensembl chr 4:156,077,329...156,098,067 		JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,688,582...140,706,509
Ensembl chr 4:140,688,514...140,706,504 		JBrowse link
G Ski ski sarcoma viral oncogene homolog (avian) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,238,532...155,307,536
Ensembl chr 4:155,238,532...155,307,049 		JBrowse link
G Slc25a33 solute carrier family 25, member 33 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,828,493...149,858,746
Ensembl chr 4:149,828,493...149,858,734 		JBrowse link
G Slc25a34 solute carrier family 25, member 34 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,346,130...141,351,202
Ensembl chr 4:141,346,135...141,351,132 		JBrowse link
G Slc2a5 solute carrier family 2 (facilitated glucose transporter), member 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:150,203,801...150,228,625
Ensembl chr 4:150,203,740...150,228,626 		JBrowse link
G Slc2a7 solute carrier family 2 (facilitated glucose transporter), member 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:150,233,293...150,253,499
Ensembl chr 4:150,233,429...150,252,939 		JBrowse link
G Slc35e2 solute carrier family 35, member E2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,685,873...155,707,797
Ensembl chr 4:155,685,873...155,707,797 		JBrowse link
G Slc45a1 solute carrier family 45, member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:150,713,853...150,736,614
Ensembl chr 4:150,713,029...150,736,631 		JBrowse link
G Slc66a1 solute carrier family 66 member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:139,021,341...139,038,025
Ensembl chr 4:139,021,340...139,038,019 		JBrowse link
G Smim1 small integral membrane protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,104,927...154,110,550
Ensembl chr 4:154,104,927...154,110,687 		JBrowse link
G Spata21 spermatogenesis associated 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,815,631...140,840,071
Ensembl chr 4:140,815,644...140,840,071 		JBrowse link
G Spen spen family transcription repressor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,195,199...141,265,955
Ensembl chr 4:141,195,201...141,265,908 		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 4:149,980,740...150,039,494
Ensembl chr 4:149,980,740...150,039,500 		JBrowse link
G Srarp steroid receptor associated and regulated protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,159,983...141,163,416
Ensembl chr 4:141,159,983...141,163,416 		JBrowse link
G Srm spermidine synthase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,675,970...148,679,076
Ensembl chr 4:148,675,960...148,679,450 		JBrowse link
G Ssu72 Ssu72 RNA polymerase II CTD phosphatase homolog (yeast) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,789,272...155,818,336
Ensembl chr 4:155,789,257...155,818,336 		JBrowse link
G Szrd1 SUZ RNA binding domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,840,326...140,867,110
Ensembl chr 4:140,840,312...140,867,086 		JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,696,839...148,711,672
Ensembl chr 4:148,696,839...148,711,476 		JBrowse link
G Tas1r1 taste receptor, type 1, member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,112,371...152,122,947
Ensembl chr 4:152,112,371...152,123,025 		JBrowse link
G Tas1r2 taste receptor, type 1, member 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:139,380,849...139,397,591
Ensembl chr 4:139,380,849...139,397,591 		JBrowse link
G Tas1r3 taste receptor, type 1, member 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,943,725...155,947,810
Ensembl chr 4:155,943,725...155,947,819 		JBrowse link
G Thap3 THAP domain containing, apoptosis associated protein 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,067,095...152,073,443
Ensembl chr 4:152,067,096...152,073,454 		JBrowse link
G Tmco4 transmembrane and coiled-coil domains 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,699,588...138,786,484
Ensembl chr 4:138,700,199...138,786,482 		JBrowse link
G Tmem201 transmembrane protein 201 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,799,832...149,822,501
Ensembl chr 4:149,799,832...149,822,501 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,818,336...155,825,025
Ensembl chr 4:155,819,261...155,825,021 		JBrowse link
G Tmem278 transmembrane protein 278 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,866,048...155,870,331
Ensembl chr 4:155,866,048...155,870,331 		JBrowse link
G Tmem51 transmembrane protein 51 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,758,301...141,811,985
Ensembl chr 4:141,758,303...141,811,615 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,553,571...155,555,315
Ensembl chr 4:155,553,571...155,555,315 		JBrowse link
G Tmem82 transmembrane protein 82 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,341,544...141,345,944
Ensembl chr 4:141,340,687...141,345,944 		JBrowse link
G Tnfrsf14 tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,002,944...155,013,077
Ensembl chr 4:155,006,390...155,013,020 		JBrowse link
G Tnfrsf18 tumor necrosis factor receptor superfamily, member 18 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,110,779...156,113,351
Ensembl chr 4:156,110,621...156,113,352 		JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440 		JBrowse link
G Tnfrsf25 tumor necrosis factor receptor superfamily, member 25 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,199,985...152,204,568
Ensembl chr 4:152,200,391...152,204,576 		JBrowse link
G Tnfrsf4 tumor necrosis factor receptor superfamily, member 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,098,049...156,101,070
Ensembl chr 4:156,098,300...156,101,069 		JBrowse link
G Tnfrsf8 tumor necrosis factor receptor superfamily, member 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:144,993,702...145,041,734
Ensembl chr 4:144,993,707...145,041,734 		JBrowse link
G Tnfrsf9 tumor necrosis factor receptor superfamily, member 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:151,004,612...151,030,561
Ensembl chr 4:150,999,019...151,030,559 		JBrowse link
G Tprg1l transformation related protein 63 regulated 1 like ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,241,942...154,246,763
Ensembl chr 4:154,241,942...154,245,123 		JBrowse link
G Trp73 transformation related protein 73 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,921,871...154,951,582
Ensembl chr 4:154,921,916...154,951,584 		JBrowse link
G Ttll10 tubulin tyrosine ligase-like family, member 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,119,292...156,135,274
Ensembl chr 4:156,119,297...156,143,871 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2J 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,028,270...156,044,061
Ensembl chr 4:156,028,288...156,044,061 		JBrowse link
G Ube4b ubiquitination factor E4B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,412,873...149,512,618
Ensembl chr 4:149,412,873...149,511,206 		JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,518,952...148,529,217
Ensembl chr 4:148,518,952...148,529,228 		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 4:139,107,970...139,216,844
Ensembl chr 4:139,079,920...139,216,899 		JBrowse link
G Ubxn10 UBX domain protein 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,437,148...138,465,749
Ensembl chr 4:138,437,148...138,464,478 		JBrowse link
G Uts2 urotensin 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:151,081,554...151,086,267
Ensembl chr 4:151,081,554...151,086,267 		JBrowse link
G Vamp3 vesicle-associated membrane protein 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:151,131,762...151,142,410
Ensembl chr 4:151,131,757...151,142,420 		JBrowse link
G Vps13d vacuolar protein sorting 13D ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:144,597,619...144,921,598
Ensembl chr 4:144,699,192...144,921,575 		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 4:155,852,952...155,859,042
Ensembl chr 4:155,852,606...155,859,155 		JBrowse link
G Wrap73 WD repeat containing, antisense to Trp73 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,226,811...154,241,278
Ensembl chr 4:154,226,829...154,251,877 		JBrowse link
G Zbtb17 zinc finger and BTB domain containing 17 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,171,984...141,195,248
Ensembl chr 4:141,171,965...141,195,241 		JBrowse link
G Zbtb48 zinc finger and BTB domain containing 48 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,104,230...152,112,132
Ensembl chr 4:152,104,231...152,112,128 		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 3:97,066,070...97,083,892
Ensembl chr 3:97,066,093...97,084,615 		JBrowse link
G Bcl9 B cell CLL/lymphoma 9 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 3:97,110,974...97,205,718
Ensembl chr 3:97,110,978...97,205,233 		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 3:97,468,056...97,517,538
Ensembl chr 3:97,468,058...97,517,519 		JBrowse link
G Fmo5 flavin containing monooxygenase 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 3:97,517,248...97,562,603
Ensembl chr 3:97,536,120...97,562,598 		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 3:96,939,718...96,960,950
Ensembl chr 3:96,812,009...96,984,732 		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 PMID:28827829 PMID:29464339 NCBI chr 3:96,820,882...96,833,367
Ensembl chr 3:96,820,882...96,833,336 		JBrowse link
G Prkab2 protein kinase, AMP-activated, beta 2 non-catalytic subunit ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 3:97,565,527...97,581,128
Ensembl chr 3:97,565,509...97,581,128 		JBrowse link
chromosome 1q41-q42 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp53bp2 transformation related protein 53 binding protein 2 IAGP OMIM:612530 MouseDO NCBI chr 1:182,236,737...182,289,997
Ensembl chr 1:182,236,737...182,289,997 		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 2510002D24Rik RIKEN cDNA 2510002D24 gene ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,655,263...18,658,910
Ensembl chr16:18,655,328...18,658,910 		JBrowse link
G Abca3 ATP-binding cassette, sub-family A member 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:28492532 NCBI chr17:24,570,997...24,629,178
Ensembl chr17:24,570,924...24,629,175 		JBrowse link
G Aifm3 apoptosis-inducing factor, mitochondrion-associated 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:17,307,418...17,325,349
Ensembl chr16:17,307,475...17,325,349 		JBrowse link
G Arvcf armadillo repeat gene deleted in velocardiofacial syndrome ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,166,046...18,225,826
Ensembl chr16:18,166,046...18,225,826 		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 chr10:74,896,384...75,020,753
Ensembl chr10:74,896,424...75,020,753 		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 chr16:16,956,928...16,965,459
Ensembl chr16:16,956,928...16,965,093 		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 chr16:18,032,091...18,038,211
Ensembl chr16:18,035,743...18,038,212 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,599,202...18,632,371
Ensembl chr16:18,599,197...18,630,737 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,595,597...18,597,012
Ensembl chr16:18,595,597...18,597,012 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602 		JBrowse link
G Crkl v-crk avian sarcoma virus CT10 oncogene homolog-like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:17,269,849...17,305,304
Ensembl chr16:17,269,851...17,305,298 		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 chr16:17,658,219...17,709,592
Ensembl chr16:17,657,346...17,716,426 		JBrowse link
G Dgcr8 DGCR8, microprocessor complex subunit ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,071,812...18,107,115
Ensembl chr16:18,071,812...18,107,110 		JBrowse link
G Ess2 ess-2 splicing factor ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:17,718,573...17,729,225
Ensembl chr16:17,718,573...17,729,212 		JBrowse link
G Gm14305 predicted gene 14305 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr 2:176,400,146...176,413,606
Ensembl chr 2:176,400,121...176,413,606 		JBrowse link
G Gm25777 predicted gene, 25777 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,058,581...18,058,706
Ensembl chr16:18,058,581...18,058,706 		JBrowse link
G Gnaz guanine nucleotide binding protein, alpha z subunit ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr10:74,803,009...74,852,739
Ensembl chr10:74,803,009...74,852,739 		JBrowse link
G Gnb1l guanine nucleotide binding protein (G protein), beta polypeptide 1-like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,316,029...18,385,430
Ensembl chr16:18,317,463...18,385,429 		JBrowse link
G Gp1bb glycoprotein Ib, beta polypeptide ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,439,069...18,441,153
Ensembl chr16:18,439,067...18,441,153 		JBrowse link
G Gsc2 goosecoid homebox 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:17,730,978...17,732,891
Ensembl chr16:17,730,971...17,732,923 		JBrowse link
G Hic2 hypermethylated in cancer 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr16:17,051,451...17,081,294
Ensembl chr16:17,051,436...17,081,294 		JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,695,500...18,789,059
Ensembl chr16:18,695,787...18,789,059 		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 chr16:18,880,502...18,880,821
Ensembl chr16:18,880,368...18,880,821 		JBrowse link
G Klhl22 kelch-like 22 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:17,577,485...17,611,246
Ensembl chr16:17,577,482...17,611,246 		JBrowse link
G LOC114827938 VISTA enhancer mm1629 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:17,627,075...17,629,017 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 chr16:17,362,329...17,379,159
Ensembl chr16:17,362,329...17,379,111 		JBrowse link
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197 		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 chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:17,469,072...17,540,811
Ensembl chr16:17,469,072...17,550,755 		JBrowse link
G Mir1306 microRNA 1306 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,102,103...18,102,181
Ensembl chr16:18,102,103...18,102,181 		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 chr16:16,941,925...16,942,006
Ensembl chr16:16,941,925...16,942,006 		JBrowse link
G Mir185 microRNA 185 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,145,265...18,145,329
Ensembl chr16:18,145,265...18,145,329 		JBrowse link
G Mir3618 microRNA 3618 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,102,414...18,102,501
Ensembl chr16:18,102,414...18,102,501 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,690,767...18,695,875
Ensembl chr16:18,690,768...18,695,612 		JBrowse link
G P2rx6 purinergic receptor P2X, ligand-gated ion channel, 6 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:17,379,749...17,389,879
Ensembl chr16:17,379,749...17,395,664 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:17,098,215...17,224,178
Ensembl chr16:17,098,215...17,224,178 		JBrowse link
G Ppil2 peptidylprolyl isomerase (cyclophilin)-like 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr16:16,904,419...16,929,126
Ensembl chr16:16,904,419...16,929,121 		JBrowse link
G Ppm1f protein phosphatase 1F (PP2C domain containing) ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr16:16,714,314...16,745,239
Ensembl chr16:16,714,333...16,745,228 		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:134,513,662...134,528,437
Ensembl chr  X:134,513,751...134,528,454 		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 chr10:74,872,727...74,890,580
Ensembl chr10:74,872,890...74,890,580 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,057,843...18,066,558
Ensembl chr16:18,057,648...18,066,596 		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 chr16:17,025,999...17,031,846
Ensembl chr16:17,026,467...17,031,846 		JBrowse link
G Rsph14 radial spoke head homolog 14 (Chlamydomonas) ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr10:74,793,309...74,868,475
Ensembl chr10:74,793,309...74,868,418 		JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:17,945,506...17,970,272
Ensembl chr16:17,945,506...17,970,272 		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 chr16:17,615,146...17,626,158
Ensembl chr16:17,615,146...17,626,157 		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 chr16:16,948,002...16,950,247
Ensembl chr16:16,948,002...16,950,247 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,440,561...18,448,688
Ensembl chr16:18,439,252...18,448,704 		JBrowse link
G Serpind1 serine (or cysteine) peptidase inhibitor, clade D, member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:17,149,235...17,161,438
Ensembl chr16:17,149,235...17,161,439 		JBrowse link
G Slc25a1 solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:17,743,075...17,746,083
Ensembl chr16:17,743,087...17,746,083 		JBrowse link
G Slc7a4 solute carrier family 7 (cationic amino acid transporter, y+ system), member 4 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:17,389,882...17,394,619
Ensembl chr16:17,389,882...17,401,078 		JBrowse link
G Snap29 synaptosomal-associated protein 29 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:17,223,864...17,248,690
Ensembl chr16:17,223,850...17,248,691 		JBrowse link
G Tango2 transport and golgi organization 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,118,689...18,165,962
Ensembl chr16:18,118,689...18,165,967 		JBrowse link
G Tbx1 T-box 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:17,345,823...17,349,975
Ensembl chr16:17,345,846...17,349,000 		JBrowse link
G Tmem191 transmembrane protein 191 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr16:17,094,164...17,096,525
Ensembl chr16:17,093,941...17,101,093 		JBrowse link
G Top3b topoisomerase (DNA) III beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr16:16,688,587...16,710,850
Ensembl chr16:16,688,600...16,710,854 		JBrowse link
G Trmt2a TRM2 tRNA methyltransferase 2A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,066,747...18,072,636
Ensembl chr16:18,066,543...18,072,636 		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 chr16:17,716,501...17,717,888
Ensembl chr16:17,716,501...17,717,888 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,245,167...18,297,823
Ensembl chr16:18,245,134...18,297,823 		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 chr16:16,969,879...17,019,363
Ensembl chr16:16,969,877...17,020,513 		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 chr16:18,630,486...18,654,011
Ensembl chr16:18,630,529...18,654,011 		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 chr16:16,686,265...16,687,119
Ensembl chr16:16,686,267...16,688,707 		JBrowse link
G Ydjc YdjC homolog (bacterial) ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr16:16,964,813...16,966,721
Ensembl chr16:16,962,485...16,978,565 		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 chr16:16,887,454...16,904,912
Ensembl chr16:16,887,560...16,904,909 		JBrowse link
G Zdhhc8 zinc finger, DHHC domain containing 8 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr16:18,038,612...18,056,471
Ensembl chr16:18,038,617...18,053,000 		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 chr10:75,868,235...75,878,804
Ensembl chr10:75,868,484...75,879,068 		JBrowse link
chromosome 22q11.2 microduplication syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2510002D24Rik RIKEN cDNA 2510002D24 gene ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:18,655,263...18,658,910
Ensembl chr16:18,655,328...18,658,910 		JBrowse link
G Aifm3 apoptosis-inducing factor, mitochondrion-associated 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:17,307,418...17,325,349
Ensembl chr16:17,307,475...17,325,349 		JBrowse link
G Arvcf armadillo repeat gene deleted in velocardiofacial syndrome ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:18,166,046...18,225,826
Ensembl chr16:18,166,046...18,225,826 		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 chr16:18,032,091...18,038,211
Ensembl chr16:18,035,743...18,038,212 		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 chr16:18,599,202...18,632,371
Ensembl chr16:18,599,197...18,630,737 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:18,595,597...18,597,012
Ensembl chr16:18,595,597...18,597,012 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602 		JBrowse link
G Crkl v-crk avian sarcoma virus CT10 oncogene homolog-like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:17,269,849...17,305,304
Ensembl chr16:17,269,851...17,305,298 		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 chr16:17,658,219...17,709,592
Ensembl chr16:17,657,346...17,716,426 		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 chr16:18,071,812...18,107,115
Ensembl chr16:18,071,812...18,107,110 		JBrowse link
G Ess2 ess-2 splicing factor ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:17,718,573...17,729,225
Ensembl chr16:17,718,573...17,729,212 		JBrowse link
G Gm14305 predicted gene 14305 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 2:176,400,146...176,413,606
Ensembl chr 2:176,400,121...176,413,606 		JBrowse link
G Gm25777 predicted gene, 25777 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:18,058,581...18,058,706
Ensembl chr16:18,058,581...18,058,706 		JBrowse link
G Gnb1l guanine nucleotide binding protein (G protein), beta polypeptide 1-like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:18,316,029...18,385,430
Ensembl chr16:18,317,463...18,385,429 		JBrowse link
G Gp1bb glycoprotein Ib, beta polypeptide ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:18,439,069...18,441,153
Ensembl chr16:18,439,067...18,441,153 		JBrowse link
G Gsc2 goosecoid homebox 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:17,730,978...17,732,891
Ensembl chr16:17,730,971...17,732,923 		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 chr16:18,695,500...18,789,059
Ensembl chr16:18,695,787...18,789,059 		JBrowse link
G Klhl22 kelch-like 22 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:17,577,485...17,611,246
Ensembl chr16:17,577,482...17,611,246 		JBrowse link
G LOC114827938 VISTA enhancer mm1629 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:17,627,075...17,629,017 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 chr16:17,362,329...17,379,159
Ensembl chr16:17,362,329...17,379,111 		JBrowse link
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197 		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 chr16:17,469,072...17,540,811
Ensembl chr16:17,469,072...17,550,755 		JBrowse link
G Mir1306 microRNA 1306 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:18,102,103...18,102,181
Ensembl chr16:18,102,103...18,102,181 		JBrowse link
G Mir185 microRNA 185 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:18,145,265...18,145,329
Ensembl chr16:18,145,265...18,145,329 		JBrowse link
G Mir3618 microRNA 3618 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:18,102,414...18,102,501
Ensembl chr16:18,102,414...18,102,501 		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 chr16:18,690,767...18,695,875
Ensembl chr16:18,690,768...18,695,612 		JBrowse link
G P2rx6 purinergic receptor P2X, ligand-gated ion channel, 6 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:17,379,749...17,389,879
Ensembl chr16:17,379,749...17,395,664 		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 chr16:17,098,215...17,224,178
Ensembl chr16:17,098,215...17,224,178 		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 chr16:18,057,843...18,066,558
Ensembl chr16:18,057,648...18,066,596 		JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:17,945,506...17,970,272
Ensembl chr16:17,945,506...17,970,272 		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 chr16:17,615,146...17,626,158
Ensembl chr16:17,615,146...17,626,157 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:18,440,561...18,448,688
Ensembl chr16:18,439,252...18,448,704 		JBrowse link
G Serpind1 serine (or cysteine) peptidase inhibitor, clade D, member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:17,149,235...17,161,438
Ensembl chr16:17,149,235...17,161,439 		JBrowse link
G Slc25a1 solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:17,743,075...17,746,083
Ensembl chr16:17,743,087...17,746,083 		JBrowse link
G Slc7a4 solute carrier family 7 (cationic amino acid transporter, y+ system), member 4 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:17,389,882...17,394,619
Ensembl chr16:17,389,882...17,401,078 		JBrowse link
G Snap29 synaptosomal-associated protein 29 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:17,223,864...17,248,690
Ensembl chr16:17,223,850...17,248,691 		JBrowse link
G Tango2 transport and golgi organization 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:18,118,689...18,165,962
Ensembl chr16:18,118,689...18,165,967 		JBrowse link
G Tbx1 T-box 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		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 chr16:17,345,823...17,349,975
Ensembl chr16:17,345,846...17,349,000 		JBrowse link
G Trmt2a TRM2 tRNA methyltransferase 2A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:18,066,747...18,072,636
Ensembl chr16:18,066,543...18,072,636 		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 chr16:17,716,501...17,717,888
Ensembl chr16:17,716,501...17,717,888 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:18,245,167...18,297,823
Ensembl chr16:18,245,134...18,297,823 		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 chr16:18,630,486...18,654,011
Ensembl chr16:18,630,529...18,654,011 		JBrowse link
G Zdhhc8 zinc finger, DHHC domain containing 8 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr16:18,038,612...18,056,471
Ensembl chr16:18,038,617...18,053,000 		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 chr11:23,256,433...23,440,560
Ensembl chr11:23,256,895...23,440,560 		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 I susceptibility ISO ClinVar Annotator: match by term: Chromosome 2P16.3 deletion syndrome | ClinVar Annotator: match by term: Chromosome 2p16.3 deletion syndrome ClinVar
OMIM		 PMID:18179900 PMID:18945720 PMID:21681106 PMID:23495017 PMID:25741868 More... NCBI chr17:90,341,072...91,400,587
Ensembl chr17:90,341,059...91,400,499 		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 1:93,062,962...93,073,143
Ensembl chr 1:93,062,962...93,073,143 		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 1:92,787,541...92,830,708
Ensembl chr 1:92,787,525...92,830,628 		JBrowse link
G Ano7 anoctamin 7 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:93,301,518...93,332,026
Ensembl chr 1:93,301,652...93,332,025 		JBrowse link
G Aqp12 aquaporin 12 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:92,934,056...92,939,991
Ensembl chr 1:92,934,056...92,939,991 		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 1:91,467,725...91,487,312
Ensembl chr 1:91,468,266...91,487,311 		JBrowse link
G Atg4b autophagy related 4B, cysteine peptidase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:93,682,627...93,717,328
Ensembl chr 1:93,679,222...93,718,332 		JBrowse link
G Bok BCL2-related ovarian killer ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:93,613,297...93,623,492
Ensembl chr 1:93,613,382...93,623,486 		JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:92,862,130...92,875,670
Ensembl chr 1:92,862,098...92,875,663 		JBrowse link
G Col6a3 collagen, type VI, alpha 3 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:90,694,582...90,771,710
Ensembl chr 1:90,693,645...90,771,693 		JBrowse link
G Cops8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:90,531,147...90,541,063
Ensembl chr 1:90,530,703...90,541,063 		JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:92,564,867...92,569,707
Ensembl chr 1:92,564,867...92,569,707 		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 1:93,096,145...93,158,789
Ensembl chr 1:93,096,447...93,158,794 		JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:93,752,531...93,781,583
Ensembl chr 1:93,752,631...93,780,070 		JBrowse link
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:93,720,298...93,730,246
Ensembl chr 1:93,720,298...93,729,656 		JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:92,834,711...92,836,342
Ensembl chr 1:92,834,703...92,836,157 		JBrowse link
G Erfe erythroferrone ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:91,293,033...91,301,939
Ensembl chr 1:91,294,152...91,301,939 		JBrowse link
G Espnl espin-like ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:91,249,845...91,277,130
Ensembl chr 1:91,249,797...91,276,028 		JBrowse link
G Farp2 FERM, 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 1:93,439,826...93,549,698
Ensembl chr 1:93,439,801...93,549,698 		JBrowse link
G Gal3st2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:93,789,066...93,804,220
Ensembl chr 1:93,789,028...93,804,216 		JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:92,759,367...92,787,933
Ensembl chr 1:92,759,367...92,788,501 		JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:92,875,774...92,913,984
Ensembl chr 1:92,878,587...92,914,113 		JBrowse link
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 2q37 microdeletion syndrome | ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome		 CTD
ClinVar		 PMID:10958686 PMID:11486037 PMID:20691407 PMID:23188045 PMID:24715439 More... NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421 		JBrowse link
G Hdlbp high density lipoprotein (HDL) 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 1:93,333,662...93,406,639
Ensembl chr 1:93,333,662...93,406,537 		JBrowse link
G Hes6 hairy and enhancer of split 6 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:91,339,204...91,342,901
Ensembl chr 1:91,339,205...91,341,760 		JBrowse link
G Ilkap integrin-linked kinase-associated serine/threonine phosphatase 2C ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:91,301,568...91,326,566
Ensembl chr 1:91,301,583...91,326,537 		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 1:93,731,648...93,749,823
Ensembl chr 1:93,731,687...93,749,823 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:92,943,180...93,029,760
Ensembl chr 1:92,943,186...93,029,673 		JBrowse link
G Klhl30 kelch-like 30 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:91,278,795...91,290,126
Ensembl chr 1:91,278,738...91,290,138 		JBrowse link
G Lrrfip1 leucine rich repeat (in FLII) interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:90,924,652...91,056,666
Ensembl chr 1:90,926,459...91,056,666 		JBrowse link
G Mab21l4 mab-21-like 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:93,079,076...93,088,679
Ensembl chr 1:93,079,071...93,088,670 		JBrowse link
G Mir149 microRNA 149 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:92,778,100...92,778,165
Ensembl chr 1:92,778,100...92,778,165 		JBrowse link
G Mlph melanophilin ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:90,842,750...90,878,864
Ensembl chr 1:90,842,807...90,878,864 		JBrowse link
G Mterf4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:93,228,927...93,233,601
Ensembl chr 1:93,226,933...93,233,637 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:92,367,208...92,401,547
Ensembl chr 1:92,366,732...92,401,582 		JBrowse link
G Neu4 sialidase 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:93,948,215...93,956,056
Ensembl chr 1:93,948,173...93,956,056 		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 1:92,407,403...92,408,341
Ensembl chr 1:92,403,647...92,412,835 		JBrowse link
G Or6b3 olfactory receptor family 6 subfamily B member 3 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:92,438,770...92,446,237
Ensembl chr 1:92,434,088...92,446,383 		JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:92,571,940...92,576,630
Ensembl chr 1:92,571,940...92,576,563 		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 1:93,237,165...93,271,237
Ensembl chr 1:93,236,492...93,271,204 		JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278 		JBrowse link
G Per2 period circadian clock 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:91,343,699...91,387,028
Ensembl chr 1:91,343,704...91,387,046 		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 1:93,271,350...93,295,344
Ensembl chr 1:93,270,576...93,301,211 		JBrowse link
G Prlh prolactin releasing hormone ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:90,879,545...90,881,848
Ensembl chr 1:90,880,830...90,881,749 		JBrowse link
G Rab17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:90,885,855...90,897,395
Ensembl chr 1:90,885,855...90,897,383 		JBrowse link
G Ramp1 receptor (calcitonin) activity modifying protein 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:91,107,544...91,152,918
Ensembl chr 1:91,107,544...91,152,918 		JBrowse link
G Rbm44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:91,072,695...91,098,521
Ensembl chr 1:91,072,811...91,098,517 		JBrowse link
G Rnpepl1 arginyl aminopeptidase (aminopeptidase B)-like 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:92,837,697...92,848,307
Ensembl chr 1:92,838,505...92,852,106 		JBrowse link
G Scly selenocysteine lyase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:91,226,017...91,248,797
Ensembl chr 1:91,226,060...91,248,797 		JBrowse link
G Septin2 septin 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:93,406,238...93,437,455
Ensembl chr 1:93,406,686...93,437,982 		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 1:93,163,563...93,228,787
Ensembl chr 1:93,163,563...93,228,787 		JBrowse link
G Stk25 serine/threonine kinase 25 (yeast) ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:93,548,473...93,581,937
Ensembl chr 1:93,547,473...93,586,381 		JBrowse link
G Thap4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:93,633,113...93,682,560
Ensembl chr 1:93,629,657...93,682,586 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:91,422,311...91,457,029
Ensembl chr 1:91,422,369...91,457,029 		JBrowse link
G Twist2 twist basic helix-loop-helix transcription factor 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:91,729,183...91,775,756
Ensembl chr 1:91,729,183...91,775,750 		JBrowse link
G Ube2f ubiquitin-conjugating enzyme E2F (putative) ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:91,177,412...91,214,243
Ensembl chr 1:91,178,026...91,218,059 		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 6:112,436,466...112,449,833
Ensembl chr 6:112,436,466...112,449,833 		JBrowse link
G Oxtr oxytocin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chr 6:112,450,646...112,467,800
Ensembl chr 6:112,450,644...112,466,904 		JBrowse link
G Srgap3 SLIT-ROBO Rho GTPase activating protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chr 6:112,694,932...112,924,466
Ensembl chr 6:112,694,932...112,924,227 		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 chr16:31,918,618...31,926,875
Ensembl chr16:31,918,618...31,926,887 		JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:31,482,261...31,692,174
Ensembl chr16:31,482,261...31,693,947 		JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:32,238,520...32,247,917
Ensembl chr16:32,238,520...32,247,917 		JBrowse link
G Fbxo45 F-box protein 45 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:32,048,930...32,065,843
Ensembl chr16:32,048,930...32,065,976 		JBrowse link
G Meltf melanotransferrin ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:31,697,449...31,717,838
Ensembl chr16:31,697,628...31,717,838 		JBrowse link
G Ncbp2 nuclear cap binding protein subunit 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:31,767,364...31,777,290
Ensembl chr16:31,767,331...31,780,599 		JBrowse link
G Ncbp2as2 Ncbp2 antisense 2 (head to head) ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:31,765,868...31,767,323
Ensembl chr16:31,765,868...31,767,312 		JBrowse link
G Nrros negative regulator of reactive oxygen species ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:31,961,603...31,984,412
Ensembl chr16:31,961,603...31,984,412 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:31,835,108...31,898,160
Ensembl chr16:31,835,108...31,898,160 		JBrowse link
G Pcyt1a phosphate cytidylyltransferase 1, choline, alpha isoform ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:32,249,739...32,293,883
Ensembl chr16:32,249,739...32,293,888 		JBrowse link
G Pigx phosphatidylinositol glycan anchor biosynthesis, class X ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:31,903,234...31,918,545
Ensembl chr16:31,903,234...31,918,558 		JBrowse link
G Pigz phosphatidylinositol glycan anchor biosynthesis, class Z ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:31,745,797...31,764,866
Ensembl chr16:31,752,669...31,764,864 		JBrowse link
G Rnf168 ring finger protein 168 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:32,096,279...32,120,260
Ensembl chr16:32,096,277...32,120,252 		JBrowse link
G Senp5 SUMO/sentrin specific peptidase 5 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:31,778,488...31,829,388
Ensembl chr16:31,778,490...31,822,105 		JBrowse link
G Slc51a solute carrier family 51, alpha subunit ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:32,294,396...32,306,697
Ensembl chr16:32,293,322...32,306,697 		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 chr16:32,090,298...32,093,599
Ensembl chr16:32,090,286...32,093,599 		JBrowse link
G Tfrc transferrin receptor ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612 		JBrowse link
G Tm4sf19 transmembrane 4 L six family member 19 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:32,218,823...32,227,397
Ensembl chr16:32,219,324...32,227,045 		JBrowse link
G Tnk2 tyrosine kinase, non-receptor, 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:32,462,699...32,502,311
Ensembl chr16:32,462,692...32,502,311 		JBrowse link
G Ubxn7 UBX domain protein 7 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:32,151,023...32,212,568
Ensembl chr16:32,151,075...32,212,565 		JBrowse link
G Wdr53 WD repeat domain 53 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:32,066,047...32,075,901
Ensembl chr16:32,066,045...32,075,901 		JBrowse link
G Zdhhc19 zinc finger, DHHC domain containing 19 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr16:32,315,059...32,326,032
Ensembl chr16:32,315,083...32,380,784 		JBrowse link
chromosome 4q21 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abraxas1 BRCA1 A complex subunit ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 5:100,952,668...100,968,816
Ensembl chr 5:100,953,058...100,968,831 		JBrowse link
G Cds1 CDP-diacylglycerol synthase 1 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 5:101,913,001...101,971,724
Ensembl chr 5:101,912,996...101,971,724 		JBrowse link
G Cops4 COP9 signalosome subunit 4 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 5:100,666,223...100,695,668
Ensembl chr 5:100,666,175...100,695,669 		JBrowse link
G Coq2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 5:100,802,589...100,822,154
Ensembl chr 5:100,802,589...100,823,006 		JBrowse link
G Enoph1 enolase-phosphatase 1 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 5:100,186,887...100,216,784
Ensembl chr 5:100,187,844...100,216,619 		JBrowse link
G Gpat3 glycerol-3-phosphate acyltransferase 3 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 5:100,994,095...101,046,968
Ensembl chr 5:100,993,579...101,046,968 		JBrowse link
G Helq helicase, POLQ-like ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 5:100,910,010...100,946,529
Ensembl chr 5:100,910,011...100,946,464 		JBrowse link
G Hnrnpd heterogeneous nuclear ribonucleoprotein D ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 5:100,103,794...100,126,926
Ensembl chr 5:100,103,794...100,126,797 		JBrowse link
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 5:100,181,436...100,187,769
Ensembl chr 5:100,181,436...100,187,523 		JBrowse link
G Hpse heparanase ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 5:100,827,350...100,867,582
Ensembl chr 5:100,827,350...100,867,582 		JBrowse link
G Lin54 lin-54 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 5:100,589,892...100,648,506
Ensembl chr 5:100,589,900...100,648,493 		JBrowse link
G Mrps18c mitochondrial ribosomal protein S18C ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 5:100,946,625...100,952,333
Ensembl chr 5:100,946,493...100,952,337 		JBrowse link
G Nkx6-1 NK6 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 5:101,807,050...101,812,577
Ensembl chr 5:101,806,005...101,812,862 		JBrowse link
G Plac8 placenta-specific 8 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 5:100,699,455...100,720,119
Ensembl chr 5:100,701,591...100,720,111 		JBrowse link
G Scd3 stearoyl-coenzyme A desaturase 3 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr19:44,191,727...44,232,455
Ensembl chr19:44,191,708...44,232,455 		JBrowse link
G Sec31a SEC31 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 5:100,509,508...100,564,132
Ensembl chr 5:100,509,508...100,564,093 		JBrowse link
G Tmem150c transmembrane protein 150C ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 5:100,225,731...100,313,463
Ensembl chr 5:100,225,731...100,307,667 		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 chr13:54,849,276...54,884,475
Ensembl chr13:54,849,274...54,884,475 		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 chr13:54,931,807...54,936,272
Ensembl chr13:54,931,811...54,936,272 		JBrowse link
G Faf2 Fas associated factor family member 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr13:54,769,597...54,811,876
Ensembl chr13:54,769,597...54,811,876 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr13:55,300,631...55,316,572
Ensembl chr13:55,300,453...55,316,572 		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 chr13:54,884,484...54,897,486
Ensembl chr13:54,884,484...54,897,687 		JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr13:55,153,798...55,169,233
Ensembl chr13:55,153,798...55,169,198 		JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr13:55,491,646...55,510,596
Ensembl chr13:55,491,646...55,510,596 		JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr13:55,472,983...55,477,937
Ensembl chr13:55,472,981...55,477,636 		JBrowse link
G Nsd1 nuclear receptor-binding SET-domain protein 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138 		JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr13:55,469,868...55,473,085
Ensembl chr13:55,468,313...55,473,085 		JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr13:55,467,036...55,469,807
Ensembl chr13:55,467,556...55,469,759 		JBrowse link
G Rgs14 regulator of G-protein signaling 14 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr13:55,517,269...55,532,504
Ensembl chr13:55,517,545...55,532,500 		JBrowse link
G Rnf44 ring finger protein 44 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr13:54,827,212...54,841,889
Ensembl chr13:54,827,212...54,841,720 		JBrowse link
G Sncb synuclein, beta ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr13:54,906,673...54,914,435
Ensembl chr13:54,906,673...54,914,408 		JBrowse link
G Tspan17 tetraspanin 17 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr13:54,936,915...54,944,588
Ensembl chr13:54,937,190...54,944,589 		JBrowse link
G Uimc1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr13:55,175,693...55,248,176
Ensembl chr13:55,175,693...55,248,113 		JBrowse link
G Unc5a unc-5 netrin receptor A ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr13:55,090,545...55,153,831
Ensembl chr13:55,097,224...55,153,831 		JBrowse link
G Zfp346 zinc finger protein 346 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr13:55,253,079...55,282,884
Ensembl chr13:55,253,124...55,282,638 		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:25741868 NCBI chr15:75,766,643...75,781,425
Ensembl chr15:75,766,054...75,781,405 		JBrowse link
G Klf1 Kruppel-like transcription factor 1 (erythroid) ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr 8:85,628,611...85,631,920
Ensembl chr 8:85,628,557...85,631,924 		JBrowse link
G Rps14 ribosomal protein S14 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr18:60,907,668...60,911,618
Ensembl chr18:60,880,170...60,911,618 		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 anchor protein 12 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr10:4,216,329...4,309,471
Ensembl chr10:4,216,380...4,309,470 		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 chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931 		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 chr10:4,382,572...4,405,140
Ensembl chr10:4,382,467...4,405,141 		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 chr10:4,432,312...4,514,498
Ensembl chr10:4,432,502...4,512,231 		JBrowse link
G Cldn20 claudin 20 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr17:3,582,829...3,583,488
Ensembl chr17:3,582,829...3,583,488 		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 chr10:7,069,061...7,162,237
Ensembl chr10:7,069,063...7,162,237 		JBrowse link
G Dynlt1b dynein light chain Tctex-type 1B ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr17:6,697,511...6,703,695
Ensembl chr17:6,697,511...6,703,695 		JBrowse link
G Esr1 estrogen receptor 1 (alpha) ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G Ezr ezrin ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr17:7,005,530...7,050,179
Ensembl chr17:7,005,440...7,050,183 		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 chr10:5,749,155...5,755,465
Ensembl chr10:5,749,160...5,755,600 		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 chr17:7,957,401...8,046,158
Ensembl chr17:7,957,401...8,046,134 		JBrowse link
G Gm24453 predicted gene, 24453 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr19:8,702,232...8,702,307
Ensembl chr19:8,702,232...8,702,307 		JBrowse link
G Gtf2h5 general transcription factor IIH, polypeptide 5 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr17:6,130,103...6,135,763
Ensembl chr17:6,130,061...6,136,792 		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 chr10:6,835,779...6,973,185
Ensembl chr10:6,835,796...7,002,478 		JBrowse link
G Iyd iodotyrosine deiodinase ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr10:3,490,274...3,504,880
Ensembl chr10:3,490,240...3,504,877 		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 chr10:3,918,282...4,117,081
Ensembl chr10:3,923,118...4,117,081 		JBrowse link
G Mtrf1l mitochondrial translational release factor 1-like ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr10:5,760,151...5,775,015
Ensembl chr10:5,761,887...5,773,910 		JBrowse link
G Myct1 myc target 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr10:5,543,728...5,556,789
Ensembl chr10:5,543,775...5,556,904 		JBrowse link
G Nox3 NADPH oxidase 3 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr17:3,685,515...3,746,536
Ensembl chr17:3,685,515...3,746,536 		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 chr10:6,708,593...6,988,209
Ensembl chr10:6,708,506...6,988,198 		JBrowse link
G Plekhg1 pleckstrin homology domain containing, family G (with RhoGef domain) member 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr10:3,690,206...3,917,303
Ensembl chr10:3,690,364...3,917,303 		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 chr10:5,775,663...5,872,413
Ensembl chr10:5,775,663...5,872,400 		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 chr10:4,353,168...4,382,583
Ensembl chr10:4,351,915...4,382,388 		JBrowse link
G Rsph3a radial spoke 3A homolog (Chlamydomonas) ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr17:8,164,446...8,198,388
Ensembl chr17:8,164,446...8,198,656 		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 chr17:3,165,247...3,249,134
Ensembl chr17:3,165,247...3,249,134 		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 chr17:6,090,846...6,130,064
Ensembl chr17:6,092,471...6,130,016 		JBrowse link
G Snx9 sorting nexin 9 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr17:5,891,599...5,982,231
Ensembl chr17:5,891,604...5,982,229 		JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr10:4,970,192...5,501,013
Ensembl chr10:4,970,917...5,501,482 		JBrowse link
G Synj2 synaptojanin 2 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr17:5,991,555...6,106,041
Ensembl chr17:5,991,555...6,094,565 		JBrowse link
G Sytl3 synaptotagmin-like 3 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr17:6,925,633...7,005,449
Ensembl chr17:6,926,492...7,005,443 		JBrowse link
G Tagap T cell activation Rho GTPase activating protein ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr17:8,144,832...8,153,729
Ensembl chr17:8,144,832...8,153,729 		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 chr17:3,569,119...3,608,064
Ensembl chr17:3,569,531...3,608,056 		JBrowse link
G Tiam2 T cell lymphoma invasion and metastasis 2 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr17:3,376,675...3,569,672
Ensembl chr17:3,376,848...3,581,619 		JBrowse link
G Tmem181a transmembrane protein 181A ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr17:6,307,001...6,358,589
Ensembl chr17:6,307,135...6,358,589 		JBrowse link
G Tmem242 transmembrane protein 242 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr17:5,461,139...5,490,535
Ensembl chr17:5,461,145...5,490,534 		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 chr17:6,156,528...6,290,912
Ensembl chr17:6,156,712...6,301,403 		JBrowse link
G Vip vasoactive intestinal polypeptide ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr10:5,589,131...5,597,617
Ensembl chr10:5,589,218...5,597,617 		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 chr10:4,317,074...4,353,114
Ensembl chr10:4,317,075...4,338,108 		JBrowse link
G Zdhhc14 zinc finger, DHHC domain containing 14 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr17:5,542,220...5,810,517
Ensembl chr17:5,542,832...5,804,086 		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 A630072M18Rik RIKEN cDNA A630072M18 gene ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:21,155,987...21,161,396
Ensembl chr 5:21,155,987...21,161,396 		JBrowse link
G Ccdc146 coiled-coil domain containing 146 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:21,496,749...21,629,675
Ensembl chr 5:21,497,959...21,629,675 		JBrowse link
G Ccl24 C-C motif chemokine ligand 24 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:135,598,789...135,601,977
Ensembl chr 5:135,598,791...135,601,903 		JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423 		JBrowse link
G Dtx2 deltex 2, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:136,023,654...136,061,735
Ensembl chr 5:136,023,654...136,061,726 		JBrowse link
G Fgl2 fibrinogen-like protein 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:21,577,671...21,583,384
Ensembl chr 5:21,577,640...21,583,372 		JBrowse link
G Gsap gamma-secretase activating protein ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:21,380,767...21,518,423
Ensembl chr 5:21,391,253...21,520,130 		JBrowse link
G Hip1 huntingtin interacting protein 1 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:135,435,350...135,574,167
Ensembl chr 5:135,435,385...135,573,974 		JBrowse link
G Hspb1 heat shock protein 1 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417 		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 5:19,431,787...20,909,790
Ensembl chr 5:19,432,034...20,909,790 		JBrowse link
G Mdh2 malate dehydrogenase 2, NAD (mitochondrial) ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:135,807,503...135,819,240
Ensembl chr 5:135,807,334...135,819,252 		JBrowse link
G Phtf2 putative homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:20,963,662...21,087,122
Ensembl chr 5:20,963,661...21,087,122 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:135,698,894...135,764,180
Ensembl chr 5:135,698,887...135,764,180 		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 5:21,191,643...21,261,009
Ensembl chr 5:21,191,643...21,260,909 		JBrowse link
G Rcc1l reculator of chromosome condensation 1 like ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:134,176,897...134,207,963
Ensembl chr 5:134,176,893...134,205,613 		JBrowse link
G Rhbdd2 rhomboid domain containing 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:135,661,508...135,675,230
Ensembl chr 5:135,661,472...135,675,302 		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 5:21,097,284...21,163,019
Ensembl chr 5:21,098,026...21,161,396 		JBrowse link
G Spdye4a speedy/RINGO cell cycle regulator family, member E4A ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:143,202,070...143,212,657
Ensembl chr 5:143,202,071...143,212,645 		JBrowse link
G Srrm3 serine/arginine repetitive matrix 3 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:135,835,693...135,903,627
Ensembl chr 5:135,835,744...135,903,626 		JBrowse link
G Ssc4d scavenger receptor cysteine rich family, 4 domains ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:135,989,074...136,003,389
Ensembl chr 5:135,989,065...136,003,385 		JBrowse link
G Styxl1 serine/threonine/tyrosine interacting-like 1 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:135,776,074...135,807,277
Ensembl chr 5:135,776,074...135,807,239 		JBrowse link
G Tmem120a transmembrane protein 120A ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:135,764,344...135,773,026
Ensembl chr 5:135,764,339...135,773,302 		JBrowse link
G Tmem60 transmembrane protein 60 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:21,087,451...21,091,868
Ensembl chr 5:21,087,189...21,091,868 		JBrowse link
G Upk3b uroplakin 3B ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:136,067,350...136,073,847
Ensembl chr 5:136,067,350...136,075,341 		JBrowse link
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:135,937,233...135,963,495
Ensembl chr 5:135,937,263...135,963,470 		JBrowse link
G Zp3 zona pellucida glycoprotein 3 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr 5:136,008,959...136,017,478
Ensembl chr 5:136,008,953...136,017,478 		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 chr19:28,968,715...29,026,122
Ensembl chr19:28,998,233...29,025,361 		JBrowse link
G Brd10 bromodomain containing 10 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:29,691,802...29,784,273
Ensembl chr19:29,691,802...29,783,389 		JBrowse link
G Cd274 CD274 antigen ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495 		JBrowse link
G Cdc37l1 cell division cycle 37-like 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:28,959,049...29,008,832
Ensembl chr19:28,967,752...29,004,081 		JBrowse link
G Dmac1 distal membrane arm assembly complex 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 4:75,195,588...75,196,529
Ensembl chr 4:75,195,591...75,196,542 		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 chr19:25,483,070...25,581,692
Ensembl chr19:25,482,982...25,581,693 		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 chr19:25,649,758...25,656,355
Ensembl chr19:25,649,775...25,656,355 		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 chr19:25,587,609...25,601,285
Ensembl chr19:25,587,665...25,601,285 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796 		JBrowse link
G Ermp1 endoplasmic reticulum metallopeptidase 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:29,587,276...29,625,815
Ensembl chr19:29,585,614...29,625,815 		JBrowse link
G Foxd4 forkhead box D4 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:24,876,307...24,878,380
Ensembl chr19:24,876,600...24,878,561 		JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 IAGP OMIM:158170 MouseDO NCBI chr 4:82,816,157...82,970,743
Ensembl chr 4:82,816,164...82,970,576 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:30,075,847...30,152,829
Ensembl chr19:30,075,847...30,152,829 		JBrowse link
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:28,236,251...28,657,684
Ensembl chr19:28,236,251...28,657,477 		JBrowse link
G Il33 interleukin 33 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118 		JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:29,298,754...29,302,718
Ensembl chr19:29,298,744...29,302,756 		JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480 		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 chr19:25,214,146...25,411,861
Ensembl chr19:25,214,339...25,411,860 		JBrowse link
G Kcnv2 potassium channel, subfamily V, member 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:27,299,461...27,314,579
Ensembl chr19:27,299,988...27,314,579 		JBrowse link
G Kdm4c lysine (K)-specific demethylase 4C ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 4:74,160,734...74,324,101
Ensembl chr 4:74,160,734...74,324,097 		JBrowse link
G Mir101b microRNA 101b ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:29,112,679...29,112,775
Ensembl chr19:29,112,679...29,112,775 		JBrowse link
G Mlana melan-A ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:29,674,956...29,685,847
Ensembl chr19:29,675,224...29,686,034 		JBrowse link
G Pdcd1lg2 programmed cell death 1 ligand 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:29,388,319...29,450,327
Ensembl chr19:29,388,319...29,448,561 		JBrowse link
G Plgrkt plasminogen receptor, C-terminal lysine transmembrane protein ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:29,326,004...29,339,340
Ensembl chr19:29,325,999...29,344,790 		JBrowse link
G Plpp6 phospholipid phosphatase 6 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:28,941,320...28,944,201
Ensembl chr19:28,941,353...28,944,211 		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 4:75,859,474...78,132,282
Ensembl chr 4:75,859,475...78,130,198 		JBrowse link
G Pum3 pumilio RNA-binding family member 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:27,366,105...27,407,264
Ensembl chr19:27,366,098...27,407,225 		JBrowse link
G Ranbp6 RAN binding protein 6 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:29,785,508...29,790,374
Ensembl chr19:29,785,800...29,790,374 		JBrowse link
G Rcl1 RNA terminal phosphate cyclase-like 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:29,078,761...29,121,251
Ensembl chr19:29,078,775...29,121,329 		JBrowse link
G Rfx3 regulatory factor X, 3 (influences HLA class II expression) ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:27,739,121...27,995,287
Ensembl chr19:27,739,121...27,988,566 		JBrowse link
G Ric1 RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:29,499,637...29,583,909
Ensembl chr19:29,499,682...29,584,229 		JBrowse link
G Rln1 relaxin 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:29,309,155...29,312,070
Ensembl chr19:29,308,570...29,312,070 		JBrowse link
G Slc1a1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:28,812,535...28,891,360
Ensembl chr19:28,812,449...28,891,360 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:26,582,578...26,755,721
Ensembl chr19:26,582,450...26,755,722 		JBrowse link
G Spata6l spermatogenesis associated 6 like ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:28,899,836...28,945,289
Ensembl chr19:28,878,668...28,945,200 		JBrowse link
G Trpd52l3 tumor protein D52-like 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:29,981,190...29,983,420
Ensembl chr19:29,981,190...29,983,418 		JBrowse link
G Uhrf2 ubiquitin-like, containing PHD and RING finger domains 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:30,007,920...30,071,126
Ensembl chr19:30,007,913...30,071,122 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:27,190,070...27,231,631
Ensembl chr19:27,193,884...27,231,631 		JBrowse link
G Washc1 WASH complex subunit 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr17:66,418,524...66,427,498
Ensembl chr17:66,418,540...66,427,498 		JBrowse link
G Zng1 Zn regulated GTPase metalloprotein activator 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr19:24,897,280...24,939,024
Ensembl chr19:24,897,280...24,938,974 		JBrowse link
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 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Rad51d RAD51 paralog D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27924006 NCBI chr11:82,762,786...82,781,571
Ensembl chr11:82,767,260...82,781,440 		JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO RGD PMID:12920066 RGD:1599213 NCBI chr15:89,376,929...89,444,464
Ensembl chr15:89,383,826...89,444,464 		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 chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		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:25741868 More... NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195 		JBrowse link
Deafness-Infertility Syndrome 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 2:121,222,109...121,245,082
Ensembl chr 2:121,223,112...121,244,273 		JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1, ubiquitous ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 2:121,188,257...121,194,218
Ensembl chr 2:121,188,195...121,194,218 		JBrowse link
G Pdia3 protein disulfide isomerase associated 3 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 2:121,244,383...121,269,168
Ensembl chr 2:121,244,256...121,269,168 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 2:121,141,038...121,186,138
Ensembl chr 2:121,141,042...121,185,877 		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 2:121,193,729...121,211,851
Ensembl chr 2:121,194,209...121,217,649 		JBrowse link
DiGeorge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2510002D24Rik RIKEN cDNA 2510002D24 gene 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 chr16:18,655,263...18,658,910
Ensembl chr16:18,655,328...18,658,910 		JBrowse link
G Aifm3 apoptosis-inducing factor, mitochondrion-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 chr16:17,307,418...17,325,349
Ensembl chr16:17,307,475...17,325,349 		JBrowse link
G Aldh1a2 aldehyde dehydrogenase family 1, subfamily A2 IMP
IAGP		 OMIM:188400 MouseDO
RGD		 PMID:12563036 RGD:734550 NCBI chr 9:71,123,071...71,203,525
Ensembl chr 9:71,123,071...71,203,525 		JBrowse link
G Arvcf armadillo repeat gene deleted in velocardiofacial syndrome 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 chr16:18,166,046...18,225,826
Ensembl chr16:18,166,046...18,225,826 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr10:74,896,384...75,020,753
Ensembl chr10:74,896,424...75,020,753 		JBrowse link
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr16:16,956,928...16,965,459
Ensembl chr16:16,956,928...16,965,093 		JBrowse link
G Ccdc188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr16:18,032,091...18,038,211
Ensembl chr16:18,035,743...18,038,212 		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 chr16:18,599,202...18,632,371
Ensembl chr16:18,599,197...18,630,737 		JBrowse link
G Chrd chordin IAGP OMIM:188400 MouseDO NCBI chr16:20,551,528...20,561,132
Ensembl chr16:20,551,877...20,561,134 		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 chr16:18,595,597...18,597,012
Ensembl chr16:18,595,597...18,597,012 		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 chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602 		JBrowse link
G Crkl v-crk avian sarcoma virus CT10 oncogene homolog-like ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
OMIM:188400		 CTD
ClinVar
MouseDO		 PMID:16399080 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr16:17,269,849...17,305,304
Ensembl chr16:17,269,851...17,305,298 		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 chr16:17,658,219...17,709,592
Ensembl chr16:17,657,346...17,716,426 		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 chr16:17,870,736...17,889,497
Ensembl chr16:17,870,724...17,889,496 		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 chr16:18,071,812...18,107,115
Ensembl chr16:18,071,812...18,107,110 		JBrowse link
G Dicer1 dicer 1, ribonuclease type III IAGP OMIM:188400 MouseDO NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211 		JBrowse link
G Dock1 dedicator of cytokinesis 1 IAGP OMIM:188400 MouseDO NCBI chr 7:134,272,416...134,775,376
Ensembl chr 7:134,272,383...134,775,368 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO RGD PMID:8644734 RGD:1580898 NCBI chr 4:155,931,829...155,943,760
Ensembl chr 4:155,931,859...155,943,760 		JBrowse link
G Ess2 ess-2 splicing factor 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 chr16:17,718,573...17,729,225
Ensembl chr16:17,718,573...17,729,212 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:188400		 CTD
MouseDO		 PMID:16399080 NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G Foxn1 forkhead box N1 IAGP OMIM:188400 MouseDO NCBI chr11:78,248,403...78,277,597
Ensembl chr11:78,248,403...78,277,384 		JBrowse link
G Gm14305 predicted gene 14305 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 2:176,400,146...176,413,606
Ensembl chr 2:176,400,121...176,413,606 		JBrowse link
G Gm25777 predicted gene, 25777 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr16:18,058,581...18,058,706
Ensembl chr16:18,058,581...18,058,706 		JBrowse link
G Gnaz guanine nucleotide binding protein, alpha z subunit ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr10:74,803,009...74,852,739
Ensembl chr10:74,803,009...74,852,739 		JBrowse link
G Gnb1l guanine nucleotide binding protein (G protein), beta polypeptide 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 chr16:18,316,029...18,385,430
Ensembl chr16:18,317,463...18,385,429 		JBrowse link
G Gp1bb glycoprotein Ib, beta polypeptide 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 chr16:18,439,069...18,441,153
Ensembl chr16:18,439,067...18,441,153 		JBrowse link
G Gsc2 goosecoid homebox 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 chr16:17,730,978...17,732,891
Ensembl chr16:17,730,971...17,732,923 		JBrowse link
G Hic2 hypermethylated in cancer 2 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr16:17,051,451...17,081,294
Ensembl chr16:17,051,436...17,081,294 		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 chr16:18,695,500...18,789,059
Ensembl chr16:18,695,787...18,789,059 		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 chr 5:115,087,039...115,109,121
Ensembl chr 5:115,087,039...115,109,153 		JBrowse link
G Hoxa3 homeobox A3 IAGP OMIM:188400 MouseDO NCBI chr 6:52,146,039...52,190,316
Ensembl chr 6:52,146,042...52,190,316 		JBrowse link
G Iglc1 immunoglobulin lambda constant 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr16:18,880,502...18,880,821
Ensembl chr16:18,880,368...18,880,821 		JBrowse link
G Kat6a K(lysine) acetyltransferase 6A IMP
IAGP		 OMIM:188400 MouseDO
RGD		 PMID:22921202 RGD:9590333 NCBI chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275 		JBrowse link
G Klhl22 kelch-like 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 chr16:17,577,485...17,611,246
Ensembl chr16:17,577,482...17,611,246 		JBrowse link
G LOC114827938 VISTA enhancer mm1629 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr16:17,627,075...17,629,017 JBrowse link
G Lrrc74b leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr16:17,362,329...17,379,159
Ensembl chr16:17,362,329...17,379,111 		JBrowse link
G Lztr1 leucine-zipper-like transcriptional 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 chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317 		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 chr16:17,469,072...17,540,811
Ensembl chr16:17,469,072...17,550,755 		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 6:120,908,507...121,150,716
Ensembl chr 6:120,908,668...121,107,959 		JBrowse link
G Mir1306 microRNA 1306 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr16:18,102,103...18,102,181
Ensembl chr16:18,102,103...18,102,181 		JBrowse link
G Mir130b microRNA 130b ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr16:16,941,925...16,942,006
Ensembl chr16:16,941,925...16,942,006 		JBrowse link
G Mir185 microRNA 185 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr16:18,145,265...18,145,329
Ensembl chr16:18,145,265...18,145,329 		JBrowse link
G Mir3618 microRNA 3618 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr16:18,102,414...18,102,501
Ensembl chr16:18,102,414...18,102,501 		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 chr16:18,690,767...18,695,875
Ensembl chr16:18,690,768...18,695,612 		JBrowse link
G Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 IAGP OMIM:188400 MouseDO NCBI chr18:60,817,566...60,907,465
Ensembl chr18:60,817,566...60,881,722 		JBrowse link
G P2rx6 purinergic receptor P2X, ligand-gated ion channel, 6 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:31690835 PMID:32581362 NCBI chr16:17,379,749...17,389,879
Ensembl chr16:17,379,749...17,395,664 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr 6:121,160,176...121,175,796
Ensembl chr 6:121,160,626...121,175,796 		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 chr16:17,098,215...17,224,178
Ensembl chr16:17,098,215...17,224,178 		JBrowse link
G Plxnd1 plexin D1 IAGP OMIM:188400 MouseDO NCBI chr 6:115,931,772...115,972,300
Ensembl chr 6:115,931,772...115,971,966 		JBrowse link
G Ppil2 peptidylprolyl isomerase (cyclophilin)-like 2 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr16:16,904,419...16,929,126
Ensembl chr16:16,904,419...16,929,121 		JBrowse link
G Ppm1f protein phosphatase 1F (PP2C domain containing) ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr16:16,714,314...16,745,239
Ensembl chr16:16,714,333...16,745,228 		JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr  X:134,513,662...134,528,437
Ensembl chr  X:134,513,751...134,528,454 		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 chr16:17,889,593...17,907,147
Ensembl chr16:17,878,221...17,908,067 		JBrowse link
G Rab36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr10:74,872,727...74,890,580
Ensembl chr10:74,872,890...74,890,580 		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 chr16:18,057,843...18,066,558
Ensembl chr16:18,057,648...18,066,596 		JBrowse link
G Rimbp3 RIMS binding protein 3 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr16:17,025,999...17,031,846
Ensembl chr16:17,026,467...17,031,846 		JBrowse link
G Rsph14 radial spoke head homolog 14 (Chlamydomonas) ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr10:74,793,309...74,868,475
Ensembl chr10:74,793,309...74,868,418 		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 chr16:17,945,506...17,970,272
Ensembl chr16:17,945,506...17,970,272 		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 chr16:17,615,146...17,626,158
Ensembl chr16:17,615,146...17,626,157 		JBrowse link
G Sdf2l1 stromal cell-derived factor 2-like 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr16:16,948,002...16,950,247
Ensembl chr16:16,948,002...16,950,247 		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 chr16:18,440,561...18,448,688
Ensembl chr16:18,439,252...18,448,704 		JBrowse link
G Serpind1 serine (or cysteine) peptidase inhibitor, clade 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 chr16:17,149,235...17,161,438
Ensembl chr16:17,149,235...17,161,439 		JBrowse link
G Slc25a1 solute carrier family 25 (mitochondrial carrier, citrate transporter), 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 chr16:17,743,075...17,746,083
Ensembl chr16:17,743,087...17,746,083 		JBrowse link
G Slc7a4 solute carrier family 7 (cationic amino acid transporter, y+ system), 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 chr16:17,389,882...17,394,619
Ensembl chr16:17,389,882...17,401,078 		JBrowse link
G Snap29 synaptosomal-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 chr16:17,223,864...17,248,690
Ensembl chr16:17,223,850...17,248,691 		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 chr10:75,047,872...75,148,234
Ensembl chr10:75,047,905...75,148,577 		JBrowse link
G Tango2 transport and golgi organization 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 chr16:18,118,689...18,165,962
Ensembl chr16:18,118,689...18,165,967 		JBrowse link
G Tbx1 T-box 1 ISO
IGI
IMP
IAGP		 ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome
OMIM: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 chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II IAGP OMIM:188400 MouseDO NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		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 chr16:17,345,823...17,349,975
Ensembl chr16:17,345,846...17,349,000 		JBrowse link
G Tmem191 transmembrane protein 191 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr16:17,094,164...17,096,525
Ensembl chr16:17,093,941...17,101,093 		JBrowse link
G Top3b topoisomerase (DNA) III beta ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr16:16,688,587...16,710,850
Ensembl chr16:16,688,600...16,710,854 		JBrowse link
G Trmt2a TRM2 tRNA methyltransferase 2A 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 chr16:18,066,747...18,072,636
Ensembl chr16:18,066,543...18,072,636 		JBrowse link
G Trp53 transformation related protein 53 IGI RGD PMID:25197075 RGD:155641238 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		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 chr16:17,716,501...17,717,888
Ensembl chr16:17,716,501...17,717,888 		JBrowse link
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr 6:121,187,666...121,209,304
Ensembl chr 6:121,187,655...121,203,813 		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 chr16:18,245,167...18,297,823
Ensembl chr16:18,245,134...18,297,823 		JBrowse link
G Ube2l3 ubiquitin-conjugating enzyme E2L 3 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr16:16,969,879...17,019,363
Ensembl chr16:16,969,877...17,020,513 		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 chr16:18,630,486...18,654,011
Ensembl chr16:18,630,529...18,654,011 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr 6:121,222,865...121,247,876
Ensembl chr 6:121,222,865...121,247,876 		JBrowse link
G Vegfa vascular endothelial growth factor A IAGP OMIM:188400 MouseDO NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		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 chr16:16,686,265...16,687,119
Ensembl chr16:16,686,267...16,688,707 		JBrowse link
G Ydjc YdjC homolog (bacterial) ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr16:16,964,813...16,966,721
Ensembl chr16:16,962,485...16,978,565 		JBrowse link
G Ypel1 yippee like 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr16:16,887,454...16,904,912
Ensembl chr16:16,887,560...16,904,909 		JBrowse link
G Zdhhc8 zinc finger, DHHC domain containing 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 chr16:18,038,612...18,056,471
Ensembl chr16:18,038,617...18,053,000 		JBrowse link
G Zfp280b zinc finger protein 280B ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr10:75,868,235...75,878,804
Ensembl chr10:75,868,484...75,879,068 		JBrowse link
G Zfp366 zinc finger protein 366 IAGP OMIM:188400 MouseDO NCBI chr13:99,321,331...99,383,540
Ensembl chr13:99,321,331...99,387,164 		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 chr 2:17,347,484...17,740,634
Ensembl chr 2:17,348,720...17,736,275 		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 7:133,484,928...133,826,859
Ensembl chr 7:133,484,928...133,833,875 		JBrowse link
G Adam8 a disintegrin and metallopeptidase domain 8 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,558,845...139,573,016
Ensembl chr 7:139,558,845...139,572,475 		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 7:139,414,014...139,458,004
Ensembl chr 7:139,414,090...139,458,004 		JBrowse link
G Bnip3 BCL2/adenovirus E1B interacting protein 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:138,492,565...138,511,235
Ensembl chr 7:138,492,565...138,511,248 		JBrowse link
G Caly calcyon neuron-specific vesicular protein ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,649,793...139,662,485
Ensembl chr 7:139,649,793...139,662,461 		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 7:139,180,830...139,264,701
Ensembl chr 7:139,180,867...139,263,733 		JBrowse link
G Clrn3 clarin 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:135,113,185...135,130,383
Ensembl chr 7:135,113,195...135,130,383 		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 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900 		JBrowse link
G D7Ertd443e DNA segment, Chr 7, ERATO Doi 443, expressed ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:133,867,509...134,121,888
Ensembl chr 7:133,867,508...134,102,889 		JBrowse link
G Dhx32 DEAH-box helicase 32 (putative) ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:133,322,671...133,384,514
Ensembl chr 7:133,322,671...133,384,455 		JBrowse link
G Dock1 dedicator of cytokinesis 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:134,272,416...134,775,376
Ensembl chr 7:134,272,383...134,775,368 		JBrowse link
G Dpysl4 dihydropyrimidinase-like 4 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:138,665,917...138,681,711
Ensembl chr 7:138,665,917...138,682,620 		JBrowse link
G Ebf3 early B cell factor 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:136,795,400...136,924,528
Ensembl chr 7:136,795,402...136,916,174 		JBrowse link
G Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,685,623...139,696,334
Ensembl chr 7:139,685,623...139,696,389 		JBrowse link
G Fank1 fibronectin type 3 and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:133,378,594...133,483,261
Ensembl chr 7:133,378,590...133,483,261 		JBrowse link
G Foxi2 forkhead box I2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:135,012,096...135,015,351
Ensembl chr 7:135,012,037...135,015,351 		JBrowse link
G Frg2f1 FSHD region gene 2 family member 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 4:119,387,505...119,395,966
Ensembl chr 4:119,387,505...119,396,726 		JBrowse link
G Fuom fucose mutarotase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,677,724...139,684,745
Ensembl chr 7:139,676,683...139,682,354 		JBrowse link
G Glrx3 glutaredoxin 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:137,039,302...137,071,360
Ensembl chr 7:137,039,343...137,070,323 		JBrowse link
G Inpp5a inositol polyphosphate-5-phosphatase A ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:138,969,025...139,159,568
Ensembl chr 7:138,969,025...139,159,568 		JBrowse link
G Insyn2a inhibitory synaptic factor 2A ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:134,483,637...134,540,159
Ensembl chr 7:134,483,655...134,540,159 		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 7:138,542,057...138,663,893
Ensembl chr 7:138,542,459...138,663,892 		JBrowse link
G Kndc1 kinase non-catalytic C-lobe domain (KIND) containing 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,474,612...139,521,453
Ensembl chr 7:139,474,612...139,521,450 		JBrowse link
G Lrrc27 leucine rich repeat containing 27 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:138,791,548...138,822,895
Ensembl chr 7:138,792,904...138,822,895 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995 		JBrowse link
G Mki67 antigen identified by monoclonal antibody Ki 67 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090 		JBrowse link
G Msx3 msh homeobox 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,626,070...139,629,001
Ensembl chr 7:139,626,070...139,629,002 		JBrowse link
G Mtg1 mitochondrial ribosome-associated GTPase 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,717,477...139,730,699
Ensembl chr 7:139,717,477...139,730,699 		JBrowse link
G Nkx6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,159,292...139,162,726
Ensembl chr 7:139,159,292...139,162,713 		JBrowse link
G Nps neuropeptide S ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:134,870,348...134,874,671
Ensembl chr 7:134,860,432...134,874,671 		JBrowse link
G Paox polyamine oxidase (exo-N4-amino) ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,693,182...139,714,249
Ensembl chr 7:139,695,712...139,717,137 		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 7:138,448,073...138,484,786
Ensembl chr 7:138,447,808...138,484,786 		JBrowse link
G Prap1 proline-rich acidic protein 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,673,309...139,677,116
Ensembl chr 7:139,673,308...139,677,113 		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 7:135,139,195...135,288,023
Ensembl chr 7:135,139,210...135,288,022 		JBrowse link
G Pwwp2b PWWP domain containing 2B ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:138,828,398...138,847,172
Ensembl chr 7:138,828,398...138,849,819 		JBrowse link
G Sprn shadow of prion protein ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,730,541...139,734,572
Ensembl chr 7:139,730,541...139,734,790 		JBrowse link
G Stk32c serine/threonine kinase 32C ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:138,683,554...138,793,223
Ensembl chr 7:138,683,554...138,793,223 		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 7:140,357,142...140,367,767
Ensembl chr 7:140,357,142...140,367,765 		JBrowse link
G Tcerg1l transcription elongation regulator 1-like ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:137,810,701...137,999,459
Ensembl chr 7:137,810,703...137,999,459 		JBrowse link
G Tubgcp2 tubulin, gamma complex component 2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,575,868...139,616,587
Ensembl chr 7:139,575,868...139,616,582 		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 7:139,523,769...139,525,025
Ensembl chr 7:139,523,702...139,525,025 		JBrowse link
G Zfp511 zinc finger protein 511 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,616,302...139,620,519
Ensembl chr 7:139,616,304...139,620,515 		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, sub-family A member 5 ISO ClinVar Annotator: match by term: ABCA5-related condition | ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24831815 PMID:25741868 PMID:28492532 NCBI chr11:110,160,195...110,228,542
Ensembl chr11:110,160,195...110,228,542 		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:21145788 PMID:21309036 PMID:23462293 More... NCBI chr17:87,943,407...87,958,555
Ensembl chr17:87,943,407...87,958,557 		JBrowse link
Holoprosencephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI-Kruppel family member GLI2 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349 		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-Coenzyme A binding domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:3,333,850...3,342,035
Ensembl chr 2:3,337,205...3,342,030 		JBrowse link
G Akr1c18 aldo-keto reductase family 1, member C18 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:4,182,614...4,200,645
Ensembl chr13:4,182,614...4,200,653 		JBrowse link
G Akr1c21 aldo-keto reductase family 1, member C21 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:4,624,074...4,636,542
Ensembl chr13:4,624,074...4,636,540 		JBrowse link
G Akr1c6 aldo-keto reductase family 1, member C6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:4,484,354...4,507,529
Ensembl chr13:4,484,305...4,507,876 		JBrowse link
G Akr1e1 aldo-keto reductase family 1, member E1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:4,641,122...4,659,163
Ensembl chr13:4,640,749...4,659,173 		JBrowse link
G Ankrd16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:11,781,902...11,795,138
Ensembl chr 2:11,782,687...11,795,140 		JBrowse link
G Arl5b ADP-ribosylation factor-like 5B ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:15,060,066...15,087,267
Ensembl chr 2:15,054,206...15,087,267 		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 chr13:3,683,589...3,703,822
Ensembl chr13:3,684,032...3,703,822 		JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:10,060,841...10,085,321
Ensembl chr 2:10,060,827...10,085,321 		JBrowse link
G Bend7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:4,722,593...4,807,035
Ensembl chr 2:4,722,642...4,806,953 		JBrowse link
G C1ql3 C1q-like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:13,006,591...13,016,491
Ensembl chr 2:13,008,268...13,016,617 		JBrowse link
G Cacnb2 calcium channel, voltage-dependent, beta 2 subunit ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:14,608,672...14,993,622
Ensembl chr 2:14,607,899...14,992,719 		JBrowse link
G Calm4 calmodulin 4 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:3,887,757...3,888,671
Ensembl chr13:3,887,757...3,888,673 		JBrowse link
G Calml3 calmodulin-like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:3,852,893...3,854,318
Ensembl chr13:3,852,896...3,854,316 		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 chr 2:5,298,268...5,719,665
Ensembl chr 2:5,298,268...5,719,326 		JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:5,142,587...5,235,682
Ensembl chr 2:5,142,587...5,235,689 		JBrowse link
G Cdc123 cell division cycle 123 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:5,799,105...5,849,988
Ensembl chr 2:5,799,105...5,849,975 		JBrowse link
G Cdnf cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:3,514,102...3,527,413
Ensembl chr 2:3,514,067...3,527,413 		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 chr 2:6,544,505...7,401,345
Ensembl chr 2:6,544,505...7,514,374 		JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624 		JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:3,425,112...3,475,248
Ensembl chr 2:3,425,168...3,465,167 		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 chr 2:5,901,030...5,947,648
Ensembl chr 2:5,900,926...5,947,603 		JBrowse link
G Echdc3 enoyl Coenzyme A hydratase domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:6,193,276...6,217,805
Ensembl chr 2:6,193,276...6,217,844 		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 chr 2:3,705,049...3,783,179
NCBI chr 2:3,571,484...3,679,417
Ensembl chr 2:3,571,525...3,783,179 		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 chr 2:3,115,261...3,228,843
Ensembl chr 2:3,115,261...3,228,843 		JBrowse link
G Fbh1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:11,747,384...11,782,396
Ensembl chr 2:11,747,384...11,782,393 		JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:4,022,461...4,618,854
Ensembl chr 2:4,022,528...4,618,854 		JBrowse link
G Gata3 GATA binding protein 3 ISO
IAGP		 ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
OMIM:146255
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 More... NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845 		JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:3,588,075...3,616,261
Ensembl chr13:3,588,063...3,617,871 		JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:14,031,642...14,060,846
Ensembl chr 2:13,855,093...14,060,847 		JBrowse link
G Il15ra interleukin 15 receptor, alpha chain ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:11,709,992...11,739,129
Ensembl chr 2:11,710,101...11,739,128 		JBrowse link
G Il2ra interleukin 2 receptor, alpha chain ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004 		JBrowse link
G Itga8 integrin alpha 8 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:12,111,443...12,306,755
Ensembl chr 2:12,111,443...12,306,733 		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 chr 2:10,099,408...10,135,492
Ensembl chr 2:10,099,404...10,136,207 		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 chr 2:10,158,354...10,261,340
Ensembl chr 2:10,158,382...10,261,340 		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 chr 2:10,085,397...10,097,512
Ensembl chr 2:10,085,404...10,097,617 		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 chr 2:4,995,535...5,017,602
Ensembl chr 2:4,994,525...5,017,602 		JBrowse link
G Meig1 meiosis expressed gene 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:3,410,080...3,423,685
Ensembl chr 2:3,410,080...3,423,685 		JBrowse link
G Mindy3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:12,352,074...12,424,298
Ensembl chr 2:12,352,074...12,424,281 		JBrowse link
G Net1 neuroepithelial cell transforming gene 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:3,932,018...3,968,220
Ensembl chr13:3,932,018...3,968,220 		JBrowse link
G Nmt2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:3,285,249...3,329,914
Ensembl chr 2:3,285,249...3,329,914 		JBrowse link
G Nsun6 NOL1/NOP2/Sun domain family member 6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:14,995,255...15,059,683
Ensembl chr 2:14,999,942...15,059,880 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:5,849,839...5,875,631
Ensembl chr 2:5,849,830...5,876,706 		JBrowse link
G Olah oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:3,343,019...3,367,964
Ensembl chr 2:3,343,019...3,398,247 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:5,023,902...5,069,210
Ensembl chr 2:5,025,453...5,068,862 		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 chr 2:11,476,241...11,558,882
Ensembl chr 2:11,476,244...11,558,888 		JBrowse link
G Phyh phytanoyl-CoA hydroxylase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:4,923,807...4,943,554
Ensembl chr 2:4,923,830...4,943,541 		JBrowse link
G Prkcq protein kinase C, theta ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:11,176,922...11,306,033
Ensembl chr 2:11,176,919...11,306,033 		JBrowse link
G Proser2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:6,103,304...6,135,100
Ensembl chr 2:6,102,418...6,135,022 		JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:4,626,869...4,656,946
Ensembl chr 2:4,626,869...4,656,924 		JBrowse link
G Pter phosphotriesterase related ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:12,928,828...13,008,265
Ensembl chr 2:12,928,852...13,008,266 		JBrowse link
G Rbm17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:11,590,250...11,608,061
Ensembl chr 2:11,590,248...11,608,964 		JBrowse link
G Rpp38 ribonuclease P/MRP 38 subunit ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:3,328,305...3,334,023
Ensembl chr 2:3,329,986...3,333,680 		JBrowse link
G Rsu1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:13,081,778...13,276,116
Ensembl chr 2:13,081,632...13,276,226 		JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:5,875,788...5,900,199
Ensembl chr 2:5,875,798...5,900,243 		JBrowse link
G Sephs1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:4,886,375...4,915,368
Ensembl chr 2:4,886,375...4,915,368 		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 chr 2:10,375,251...10,600,064
Ensembl chr 2:10,375,321...10,600,064 		JBrowse link
G Slc39a12 solute carrier family 39 (zinc transporter), member 12 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:14,345,476...14,499,787
Ensembl chr 2:14,393,127...14,499,788 		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 chr 2:13,659,745...13,798,659
Ensembl chr 2:13,655,832...13,798,875 		JBrowse link
G Stam signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:14,078,912...14,152,351
Ensembl chr 2:14,078,909...14,154,445 		JBrowse link
G Suv39h2 suppressor of variegation 3-9 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:3,456,852...3,476,085
Ensembl chr 2:3,456,852...3,476,068 		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 chr 2:9,919,363...10,053,420
Ensembl chr 2:9,919,363...10,053,407 		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 chr13:3,615,905...3,661,108
Ensembl chr13:3,616,035...3,661,108 		JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:13,509,690...13,549,475
Ensembl chr 2:13,513,825...13,549,479 		JBrowse link
G Tubal3 tubulin, alpha-like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:3,974,695...3,985,277
Ensembl chr13:3,968,274...3,985,277 		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 chr 2:4,980,933...4,990,559
Ensembl chr 2:4,980,933...4,990,559 		JBrowse link
G Ucn3 urocortin 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:3,990,688...3,995,349
Ensembl chr13:3,990,688...3,995,349 		JBrowse link
G Upf2 UPF2 regulator of nonsense transcripts homolog (yeast) ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:5,956,218...6,061,514
Ensembl chr 2:5,956,280...6,061,514 		JBrowse link
G Usp6nl USP6 N-terminal like ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:6,327,444...6,453,107
Ensembl chr 2:6,327,478...6,451,201 		JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637 		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
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:606407		 CTD
MouseDO		 PMID:26247364 NCBI chr17:85,397,989...85,766,017
Ensembl chr17:85,397,980...85,766,016 		JBrowse link
G Ppm1b protein phosphatase 1B, magnesium dependent, beta isoform ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr17:85,264,169...85,331,420
Ensembl chr17:85,264,169...85,331,419 		JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr17:85,370,122...85,397,702
Ensembl chr17:85,370,898...85,397,669 		JBrowse link
G Slc3a1 solute carrier family 3, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr17:85,335,775...85,371,669
Ensembl chr17:85,335,804...85,371,664 		JBrowse link
Jacobsen Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad8 acyl-Coenzyme A dehydrogenase family, member 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:26,885,434...26,910,872
Ensembl chr 9:26,885,431...26,910,862 		JBrowse link
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:36,604,550...36,610,139
Ensembl chr 9:36,604,516...36,610,139 		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 9:30,810,451...30,833,853
Ensembl chr 9:30,810,451...30,833,748 		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 9:30,853,858...30,875,134
Ensembl chr 9:30,853,858...30,875,134 		JBrowse link
G Aplp2 amyloid beta precursor-like protein 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:31,060,853...31,123,144
Ensembl chr 9:31,060,853...31,123,111 		JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:31,927,921...32,176,061
Ensembl chr 9:32,027,432...32,179,742 		JBrowse link
G B3gat1 beta-1,3-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:26,644,813...26,672,646
Ensembl chr 9:26,645,024...26,674,397 		JBrowse link
G Barx2 BarH-like homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:31,757,340...31,824,581
Ensembl chr 9:31,757,340...31,824,758 		JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,178,758...37,262,508
Ensembl chr 9:37,187,131...37,259,728 		JBrowse link
G Cdon cell adhesion molecule-related/down-regulated by oncogenes ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,332,836...35,418,948
Ensembl chr 9:35,332,424...35,418,948 		JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:36,619,935...36,637,897
Ensembl chr 9:36,619,778...36,638,361 		JBrowse link
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,035,710...35,087,283
Ensembl chr 9:35,035,704...35,087,357 		JBrowse link
G Ddx25 DEAD box helicase 25 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,453,144...35,469,766
Ensembl chr 9:35,447,943...35,469,824 		JBrowse link
G Ei24 etoposide induced 2.4 mRNA ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:36,690,449...36,708,630
Ensembl chr 9:36,690,455...36,708,689 		JBrowse link
G Esam endothelial cell-specific adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,439,385...37,449,615
Ensembl chr 9:37,439,374...37,449,615 		JBrowse link
G Ets1 E26 avian leukemia oncogene 1, 5' domain ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:32,547,501...32,669,116
Ensembl chr 9:32,547,517...32,669,116 		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 9:35,128,261...35,179,172
Ensembl chr 9:35,128,261...35,179,101 		JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:36,732,694...36,790,220
Ensembl chr 9:36,733,160...36,790,220 		JBrowse link
G Fli1 Friend leukemia integration 1 ISO ClinVar Annotator: match by term: 11q partial monosomy syndrome | ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:15798196 PMID:24100448 PMID:25741868 PMID:28255014 PMID:28492532 More... NCBI chr 9:32,333,500...32,454,292
Ensembl chr 9:32,333,500...32,454,157 		JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,115,504...35,122,499
Ensembl chr 9:35,115,502...35,122,351 		JBrowse link
G Glb1l2 galactosidase, beta 1-like 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:26,674,338...26,717,769
Ensembl chr 9:26,674,340...26,717,764 		JBrowse link
G Glb1l3 galactosidase, beta 1 like 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:26,729,249...26,773,394
Ensembl chr 9:26,729,249...26,772,186 		JBrowse link
G Hepacam hepatocyte cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,278,652...37,297,868
Ensembl chr 9:37,278,647...37,297,871 		JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,472,117...35,481,365
Ensembl chr 9:35,472,116...35,481,694 		JBrowse link
G Igsf9b immunoglobulin superfamily, member 9B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:27,210,400...27,268,845
Ensembl chr 9:27,210,500...27,268,842 		JBrowse link
G Jam3 junction adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:27,008,680...27,066,739
Ensembl chr 9:27,008,680...27,066,717 		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 9:32,283,714...32,310,493
Ensembl chr 9:32,283,789...32,310,493 		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 9:32,226,002...32,255,640
Ensembl chr 9:32,226,003...32,255,646 		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 9:34,396,850...34,952,103
Ensembl chr 9:34,397,190...34,948,012 		JBrowse link
G Msantd2 Myb/SANT-like DNA-binding domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,397,034...37,437,409
Ensembl chr 9:37,400,317...37,435,921 		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 9:26,941,455...27,008,667
Ensembl chr 9:26,941,471...27,006,611 		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 9:31,297,476...31,332,629
Ensembl chr 9:31,297,488...31,332,629 		JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,455,789...37,464,041
Ensembl chr 9:37,455,788...37,464,200 		JBrowse link
G Ntm neurotrimin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:28,906,045...29,874,565
Ensembl chr 9:28,906,046...29,874,437 		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 9:27,702,050...28,836,706
Ensembl chr 9:27,702,071...28,836,706 		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 9:37,622,644...37,623,576
Ensembl chr 9:37,620,260...37,627,546 		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 9:37,656,596...37,658,402
Ensembl chr 9:37,656,402...37,659,890 		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 9:38,313,007...38,315,125
Ensembl chr 9:38,312,994...38,319,293 		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 9:37,829,844...37,830,908
Ensembl chr 9:37,829,136...37,833,770 		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 9:37,801,863...37,809,634
Ensembl chr 9:37,808,020...37,814,815 		JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,571,198...37,580,518
Ensembl chr 9:37,571,198...37,580,531 		JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,596,182...35,598,686
Ensembl chr 9:35,596,375...35,598,686 		JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,580,935...35,584,185
Ensembl chr 9:35,481,580...35,601,614 		JBrowse link
G Pate3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,556,409...35,559,499
Ensembl chr 9:35,556,409...35,559,498 		JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,518,387...35,523,164
Ensembl chr 9:35,518,389...35,523,237 		JBrowse link
G Pknox2 Pbx/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:36,802,278...37,058,637
Ensembl chr 9:36,802,278...37,058,703 		JBrowse link
G Prdm10 PR domain containing 10 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:31,187,406...31,293,027
Ensembl chr 9:31,191,834...31,293,019 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,469,856...35,478,697
Ensembl chr 9:35,469,891...35,478,697 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,327,341...37,344,730
Ensembl chr 9:37,326,965...37,344,542 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,313,198...37,325,319
Ensembl chr 9:37,313,193...37,326,411 		JBrowse link
G Rpusd4 RNA pseudouridylate synthase domain containing 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,179,177...35,187,253
Ensembl chr 9:35,179,161...35,189,027 		JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,525,117...37,559,554
Ensembl chr 9:37,466,994...37,560,951 		JBrowse link
G Slc37a2 solute carrier family 37 (glycerol-3-phosphate transporter), member 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,140,445...37,166,709
Ensembl chr 9:37,138,881...37,167,034 		JBrowse link
G Snx19 sorting nexin 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:30,338,284...30,378,437
Ensembl chr 9:30,338,404...30,378,029 		JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,514,590...37,525,018
Ensembl chr 9:37,514,586...37,525,018 		JBrowse link
G Spata19 spermatogenesis associated 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:27,308,103...27,313,007
Ensembl chr 9:27,308,096...27,313,081 		JBrowse link
G Srpra signal recognition particle receptor alpha ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,122,499...35,128,299
Ensembl chr 9:35,111,471...35,159,269 		JBrowse link
G St14 suppression of tumorigenicity 14 (colon carcinoma) ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:30,999,886...31,043,138
Ensembl chr 9:31,000,698...31,043,149 		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 9:34,957,872...35,028,160
Ensembl chr 9:34,957,872...35,030,564 		JBrowse link
G Stt3a STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:36,640,640...36,678,918
Ensembl chr 9:36,640,640...36,678,975 		JBrowse link
G Tbrg1 transforming growth factor beta regulated gene 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,560,478...37,568,608
Ensembl chr 9:37,560,059...37,568,608 		JBrowse link
G Thyn1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:26,910,950...26,918,632
Ensembl chr 9:26,911,006...26,918,632 		JBrowse link
G Tirap toll-interleukin 1 receptor (TIR) domain-containing adaptor protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:35,095,687...35,111,587
Ensembl chr 9:35,095,847...35,111,587 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:37,119,519...37,134,524
Ensembl chr 9:37,119,519...37,135,996 		JBrowse link
G Tmem45b transmembrane protein 45b ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:31,336,445...31,375,534
Ensembl chr 9:31,337,492...31,375,758 		JBrowse link
G Vps26b VPS26 retromer complex component B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 9:26,915,798...26,941,390
Ensembl chr 9:26,919,067...26,941,361 		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 9:37,450,551...37,455,501
Ensembl chr 9:37,450,551...37,455,501 		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 9:30,941,016...30,987,181
Ensembl chr 9:30,941,940...30,987,181 		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, sub-family 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 2:25,318,611...25,338,556
Ensembl chr 2:25,318,715...25,338,552 		JBrowse link
G Abcc9 ATP-binding cassette, sub-family 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 6:142,533,592...142,648,472
Ensembl chr 6:142,533,588...142,648,041 		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 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640 		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 2:26,969,348...26,998,993
Ensembl chr 2:26,969,391...26,998,993 		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 2:26,483,069...26,494,429
Ensembl chr 2:26,483,069...26,494,429 		JBrowse link
G Ajm1 apical junction component 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 2:25,465,428...25,471,760
Ensembl chr 2:25,465,428...25,471,769 		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 2:25,162,469...25,175,928
Ensembl chr 2:25,162,490...25,175,927 		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 2:24,815,364...24,825,347
Ensembl chr 2:24,815,364...24,825,264 		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 2:27,335,588...27,397,669
Ensembl chr 2:27,335,591...27,397,674 		JBrowse link
G C8g complement component 8, gamma polypeptide ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 2:25,388,662...25,391,731
Ensembl chr 2:25,388,663...25,391,731 		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 2:26,899,867...26,911,102
Ensembl chr 2:26,899,938...26,911,101 		JBrowse link
G Cacna1b calcium channel, voltage-dependent, N type, alpha 1B subunit ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 2:24,493,872...24,653,210
Ensembl chr 2:24,493,899...24,653,164 		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 2:25,816,850...25,873,574
Ensembl chr 2:25,816,850...25,873,294 		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 2:26,242,199...26,250,957
Ensembl chr 2:26,242,188...26,250,930 		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 2:25,498,641...25,507,690
Ensembl chr 2:25,498,647...25,507,690 		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 2:25,104,382...25,112,293
Ensembl chr 2:25,108,757...25,112,292 		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 2:25,346,855...25,348,789
Ensembl chr 2:25,346,850...25,348,788 		JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526 		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 2:25,128,831...25,129,876
Ensembl chr 2:25,128,830...25,132,464 		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 2:27,055,519...27,073,216
Ensembl chr 2:27,055,245...27,073,212 		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 2:26,518,469...26,526,509
Ensembl chr 2:26,518,469...26,526,509 		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 2:26,238,130...26,242,122
Ensembl chr 2:26,238,133...26,242,122 		JBrowse link
G Dph7 diphthamine biosynethesis 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 2:24,852,183...24,862,198
Ensembl chr 2:24,852,412...24,862,175 		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 2:25,242,302...25,246,365
Ensembl chr 2:25,242,288...25,246,371 		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 2:25,447,838...25,452,096
Ensembl chr 2:25,447,859...25,452,094 		JBrowse link
G Egfl7 EGF-like domain 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 2:26,471,095...26,482,694
Ensembl chr 2:26,470,026...26,483,132 		JBrowse link
G Ehmt1 euchromatic histone methyltransferase 1 ISO
IAGP		 ClinVar Annotator: match by term: EHMT1-related condition | ClinVar Annotator: match by term: Kleefstra syndrome 1
CTD Direct Evidence: marker/mechanism
OMIM:610253		 OMIM
ClinVar
CTD
MouseDO		 PMID:2663354 PMID:9536098 PMID:15805155 PMID:16199547 PMID:16826528 More... NCBI chr 2:24,680,781...24,809,658
Ensembl chr 2:24,679,940...24,809,626 		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 2:25,285,886...25,291,335
Ensembl chr 2:25,285,886...25,291,333 		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 2:24,969,308...24,975,731
Ensembl chr 2:24,970,316...24,975,728 		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 2:26,272,810...26,279,352
Ensembl chr 2:26,272,814...26,279,328 		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 2:27,000,391...27,032,489
Ensembl chr 2:27,000,392...27,032,503 		JBrowse link
G Fbxw5 F-box and WD-40 domain protein 5 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 2:25,390,762...25,395,482
Ensembl chr 2:25,390,762...25,395,483 		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 2:27,966,491...27,974,921
Ensembl chr 2:27,966,390...27,974,897 		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 2:25,312,363...25,316,386
Ensembl chr 2:25,313,279...25,316,386 		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 2:25,673,474...25,705,908
Ensembl chr 2:25,683,871...25,705,860 		JBrowse link
G Gm25541 predicted gene, 25541 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 2:27,429,817...27,429,942
Ensembl chr 2:27,429,817...27,429,942 		JBrowse link
G Gpsm1 G-protein signalling modulator 1 (AGS3-like, C. elegans) ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 2:26,204,623...26,238,249
Ensembl chr 2:26,205,527...26,238,249 		JBrowse link
G Grin1 glutamate receptor, ionotropic, NMDA1 (zeta 1) ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr 2:25,181,189...25,209,199
Ensembl chr 2:25,181,193...25,209,199 		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 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215 		JBrowse link
G Kcnt1 potassium 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 2:25,753,807...25,808,285
Ensembl chr 2:25,753,746...25,808,285 		JBrowse link
G Kmt2c lysine (K)-specific methyltransferase 2C ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:25741868 PMID:39013459 NCBI chr 5:25,476,793...25,703,853
Ensembl chr 5:25,476,796...25,703,781 		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 2:25,572,738...25,576,093
Ensembl chr 2:25,572,738...25,576,093 		JBrowse link
G Lcn11 lipocalin 11 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:25741868 PMID:28492532 PMID:31209758 NCBI chr 2:25,667,029...25,670,291
Ensembl chr 2:25,667,029...25,670,291 		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 2:25,380,857...25,384,073
Ensembl chr 2:25,380,857...25,383,923 		JBrowse link
G Lcn15 lipocalin 15 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 2:25,534,156...25,538,813 JBrowse link
G Lcn3 lipocalin 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 2:25,655,545...25,658,110
Ensembl chr 2:25,655,581...25,658,111 		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 2:25,566,650...25,571,620
Ensembl chr 2:25,566,798...25,571,620 		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 2:25,543,130...25,546,229
Ensembl chr 2:25,543,132...25,546,229 		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 2:25,713,100...25,715,558
Ensembl chr 2:25,713,165...25,715,549 		JBrowse link
G Lhx3 LIM homeobox protein 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 2:26,090,224...26,098,261
Ensembl chr 2:26,090,224...26,098,301 		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 2:25,179,923...25,181,205
Ensembl chr 2:25,179,927...25,181,192 		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 2:25,453,124...25,461,328
Ensembl chr 2:25,453,127...25,464,857 		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 2:25,222,742...25,242,225
Ensembl chr 2:25,222,350...25,242,224 		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 2:26,481,369...26,481,441
Ensembl chr 2:26,481,369...26,481,441 		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 2:24,862,482...24,865,110
Ensembl chr 2:24,864,129...24,865,110 		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 2:28,355,963...28,361,189
Ensembl chr 2:28,358,078...28,361,190 		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 2:26,951,648...26,962,173
Ensembl chr 2:26,951,648...26,962,191 		JBrowse link
G Nacc2 nucleus accumbens associated 2, BEN and BTB (POZ) domain containing ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chr 2:25,945,547...26,012,823
Ensembl chr 2:25,945,547...26,013,232 		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 2:25,134,825...25,145,458
Ensembl chr 2:25,134,833...25,146,034
Ensembl chr 2:25,134,833...25,146,034
Ensembl chr 2:25,134,833...25,146,034 		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 2:25,089,724...25,101,501
Ensembl chr 2:25,089,724...25,101,501 		JBrowse link
G Notch1 notch 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		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 2:24,975,679...24,985,217
Ensembl chr 2:24,975,679...24,985,161 		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 2:25,293,067...25,299,504
Ensembl chr 2:25,289,363...25,299,506 		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 chr 1:171,041,503...171,046,414
Ensembl chr 1:171,041,539...171,048,270 		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 2:25,070,770...25,073,351
Ensembl chr 2:25,070,770...25,073,351 		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 2:24,944,370...24,952,893
Ensembl chr 2:24,944,367...24,952,893 		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 2:25,587,589...25,593,338
Ensembl chr 2:25,590,055...25,593,338 		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 2:28,083,105...28,120,748
Ensembl chr 2:28,083,004...28,120,748 		JBrowse link
G 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 2:25,345,132...25,352,666
Ensembl chr 2:25,345,153...25,351,106 		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 2:25,463,442...25,465,528
Ensembl chr 2:25,463,442...25,465,236 		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 2:28,352,013...28,356,336
Ensembl chr 2:28,352,013...28,356,344 		JBrowse link
G Pmpca peptidase (mitochondrial processing) alpha ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 2:26,275,554...26,287,134
Ensembl chr 2:26,279,351...26,287,134 		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 2:24,865,235...24,944,084
Ensembl chr 2:24,866,045...24,944,069 		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 2:28,336,613...28,345,520
Ensembl chr 2:28,336,812...28,345,520 		JBrowse link
G Ptgds prostaglandin D2 synthase (brain) ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 2:25,356,723...25,360,080
Ensembl chr 2:25,356,721...25,360,058 		JBrowse link
G Qsox2 quiescin Q6 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 2:26,099,136...26,127,411
Ensembl chr 2:26,098,649...26,127,537 		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 2:25,473,029...25,498,493
Ensembl chr 2:25,473,030...25,498,533 		JBrowse link
G Rexo4 REX4, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 2:26,843,575...26,854,398
Ensembl chr 2:26,843,575...26,854,398 		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 2:25,132,941...25,134,273
Ensembl chr 2:25,132,941...25,134,274 		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 2:25,124,487...25,126,799
Ensembl chr 2:25,124,488...25,126,799 		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 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969 		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 2:25,261,974...25,268,225
Ensembl chr 2:25,262,333...25,268,225 		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 2:27,078,405...27,138,344
Ensembl chr 2:27,078,405...27,138,349 		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 2:26,299,443...26,336,138
Ensembl chr 2:26,299,443...26,335,228 		JBrowse link
G Slc2a6 solute carrier family 2 (facilitated glucose transporter), member 6 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 2:26,911,375...26,918,011
Ensembl chr 2:26,911,375...26,918,010 		JBrowse link
G Slc34a3 solute carrier family 34 (sodium phosphate), 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 2:25,118,909...25,124,282
Ensembl chr 2:25,118,910...25,124,376 		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 2:26,252,777...26,270,666
Ensembl chr 2:26,252,777...26,270,665 		JBrowse link
G Snhg7 small nucleolar RNA host gene 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 2:26,527,188...26,530,256
Ensembl chr 2:26,526,613...26,530,577 		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 2:25,733,007...25,737,347
Ensembl chr 2:25,733,007...25,737,260 		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 2:25,161,051...25,162,430
Ensembl chr 2:25,161,051...25,162,450 		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 2:26,823,533...26,843,508
Ensembl chr 2:26,824,059...26,843,508 		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 2:25,102,219...25,108,680
Ensembl chr 2:25,102,219...25,104,649 		JBrowse link
G Surf1 surfeit gene 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 2:26,803,390...26,806,667
Ensembl chr 2:26,803,393...26,806,542 		JBrowse link
G Surf2 surfeit gene 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 2:26,806,420...26,810,199
Ensembl chr 2:26,806,379...26,810,195 		JBrowse link
G Surf4 surfeit gene 4 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 2:26,810,052...26,823,801
Ensembl chr 2:26,810,052...26,823,940 		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 2:25,510,078...25,512,059
Ensembl chr 2:25,510,079...25,512,017 		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 2:25,145,451...25,146,364
Ensembl chr 2:25,145,451...25,146,304 		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 2:25,178,153...25,179,201
Ensembl chr 2:25,178,157...25,179,201 		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 2:26,026,819...26,030,518
Ensembl chr 2:26,026,826...26,030,533 		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 2:25,082,732...25,086,825
Ensembl chr 2:25,082,978...25,086,898 		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 2:25,152,610...25,159,898
Ensembl chr 2:25,152,630...25,159,897 		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 2:25,407,994...25,436,952
Ensembl chr 2:25,407,994...25,436,952 		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 2:25,112,170...25,114,714
Ensembl chr 2:25,112,172...25,114,714 		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 2:25,251,501...25,255,695
Ensembl chr 2:25,249,901...25,255,694 		JBrowse link
G Ubac1 ubiquitin associated 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 2:25,886,970...25,911,793
Ensembl chr 2:25,888,555...25,911,759 		JBrowse link
G Vav2 vav 2 oncogene ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 2:27,152,116...27,317,620
Ensembl chr 2:27,152,116...27,317,045 		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 2:27,405,159...27,426,547
Ensembl chr 2:27,405,169...27,426,547 		JBrowse link
G Zmynd19 zinc finger, MYND domain 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 2:24,839,789...24,850,882
Ensembl chr 2:24,839,804...24,852,087 		JBrowse link
Koolen de Vries syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930550C14Rik RIKEN cDNA 4930550C14 gene ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:9043869 PMID:10817650 PMID:12815592 PMID:16238588 PMID:17124347 More... NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702 		JBrowse link
G Arf2 ARF GTPase 2 ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:25741868 NCBI chr11:103,857,551...103,876,176
Ensembl chr11:103,857,565...103,876,163 		JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:9043869 PMID:10817650 PMID:12815592 PMID:16238588 PMID:17124347 More... NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		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 chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO
IAGP		 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
OMIM:610443
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2544363 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18628315 More... NCBI chr11:104,224,327...104,360,584
Ensembl chr11:104,224,055...104,359,687 		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 chr11:104,120,235...104,222,916
Ensembl chr11:104,122,216...104,222,916 		JBrowse link
G Sppl2c signal peptide peptidase 2C ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr11:104,077,153...104,081,992
Ensembl chr11:104,077,153...104,081,989 		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 IAGP OMIM:247200 MouseDO NCBI chr11:75,068,469...75,081,309
Ensembl chr11:75,068,469...75,082,067 		JBrowse link
G Hic1 hypermethylated in cancer 1 IAGP OMIM:247200 MouseDO NCBI chr11:75,052,203...75,059,970
Ensembl chr11:75,055,391...75,060,345 		JBrowse link
G Mnt max binding protein IAGP OMIM:247200 MouseDO NCBI chr11:74,721,651...74,736,551
Ensembl chr11:74,721,746...74,736,551 		JBrowse link
G Myo1c myosin IC ISO ClinVar Annotator: match by term: Miller Dieker syndrome ClinVar PMID:25741868 NCBI chr11:75,541,345...75,565,450
Ensembl chr11:75,541,330...75,564,736 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 IAGP OMIM:247200 MouseDO NCBI chr11:74,564,775...74,615,210
Ensembl chr11:74,564,775...74,615,496 		JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide IAGP OMIM:247200 MouseDO NCBI chr11:75,620,121...75,656,667
Ensembl chr11:75,623,695...75,656,671 		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 6:3,372,257...3,399,458
Ensembl chr 6:3,372,257...3,399,572 		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 disorder OMIM
ClinVar		 PMID:10518556 PMID:17530927 PMID:19058033 PMID:19763616 PMID:20673863 More... NCBI chr 4:97,469,534...98,007,113
Ensembl chr 4:97,660,971...98,007,111 		JBrowse link
Phelan-McDermid syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 5031439G07Rik RIKEN cDNA 5031439G07 gene ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:84,828,137...84,872,503
Ensembl chr15:84,828,137...84,872,752 		JBrowse link
G Acr acrosin prepropeptide ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,452,549...89,458,790
Ensembl chr15:89,452,529...89,458,788 		JBrowse link
G Adm2 adrenomedullin 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,206,923...89,208,934
Ensembl chr15:89,206,923...89,208,934 		JBrowse link
G Alg12 ALG12 alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:88,689,448...88,703,498
Ensembl chr15:88,689,447...88,703,521 		JBrowse link
G Arhgap8 Rho GTPase activating protein 8 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:84,604,214...84,657,058
Ensembl chr15:84,604,253...84,656,408 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,356,679...89,361,627
Ensembl chr15:89,356,679...89,361,628 		JBrowse link
G Atxn10 ataxin 10 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:85,220,456...85,348,038
Ensembl chr15:85,220,446...85,347,413 		JBrowse link
G Bik BCL2-interacting killer ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:83,410,992...83,428,836
Ensembl chr15:83,411,063...83,428,835 		JBrowse link
G Brd1 bromodomain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:88,571,237...88,618,508
Ensembl chr15:88,571,237...88,618,436 		JBrowse link
G Cdpf1 cysteine rich, DPF motif domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:85,691,173...85,695,898
Ensembl chr15:85,691,173...85,695,898 		JBrowse link
G Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:85,782,959...85,918,424
Ensembl chr15:85,783,130...85,918,404 		JBrowse link
G Cerk ceramide kinase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:86,023,302...86,070,537
Ensembl chr15:86,023,329...86,070,342 		JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,310,552...89,314,130
Ensembl chr15:89,310,563...89,314,111 		JBrowse link
G Cimap1b ciliary microtubule associated protein 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,261,652...89,263,817
Ensembl chr15:89,261,652...89,263,790 		JBrowse link
G Col4a5 collagen, type IV, alpha 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar PMID:25741868 NCBI chr  X:140,258,367...140,472,232
Ensembl chr  X:140,258,381...140,472,230 		JBrowse link
G Cpt1b carnitine palmitoyltransferase 1b, muscle ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,300,608...89,310,065
Ensembl chr15:89,300,608...89,310,066 		JBrowse link
G Creld2 cysteine-rich with EGF-like domains 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:88,703,849...88,710,884
Ensembl chr15:88,703,849...88,710,886 		JBrowse link
G Dennd6b DENN domain containing 6B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,066,416...89,080,793
Ensembl chr15:89,066,416...89,080,699 		JBrowse link
G Efcab6 EF-hand calcium binding domain 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:83,750,913...83,959,226
Ensembl chr15:83,750,913...83,949,580 		JBrowse link
G Fam118a family with sequence similarity 118, member A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:84,921,263...85,001,781
Ensembl chr15:84,913,149...84,947,031 		JBrowse link
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:85,090,150...85,170,495
Ensembl chr15:85,090,150...85,170,736 		JBrowse link
G Gramd4 GRAM domain containing 4 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:85,941,896...86,021,837
Ensembl chr15:85,941,896...86,021,835 		JBrowse link
G Gtse1 G two S phase expressed protein 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:85,743,928...85,760,774
Ensembl chr15:85,743,946...85,760,774 		JBrowse link
G Hdac10 histone deacetylase 10 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,007,506...89,012,903
Ensembl chr15:89,007,510...89,012,903 		JBrowse link
G Ins2 insulin II ISO CTD Direct Evidence: therapeutic CTD PMID:18948358 NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118 		JBrowse link
G Klhdc7b kelch domain containing 7B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,268,262...89,274,025
Ensembl chr15:89,269,120...89,273,070 		JBrowse link
G Lmf2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,235,203...89,239,860
Ensembl chr15:89,235,207...89,239,862 		JBrowse link
G Lncppara long noncoding RNA near Ppara ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:85,530,302...85,591,725
Ensembl chr15:85,529,788...85,595,393 		JBrowse link
G Mapk11 mitogen-activated protein kinase 11 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,026,685...89,033,809
Ensembl chr15:89,026,689...89,033,831 		JBrowse link
G Mapk12 mitogen-activated protein kinase 12 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,014,787...89,025,270
Ensembl chr15:89,014,787...89,024,906 		JBrowse link
G Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,338,114...89,346,650
Ensembl chr15:89,338,116...89,348,671 		JBrowse link
G Mcat malonyl CoA:ACP acyltransferase (mitochondrial) ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:83,430,998...83,439,936
Ensembl chr15:83,430,998...83,447,988 		JBrowse link
G Miox myo-inositol oxygenase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,218,676...89,221,210
Ensembl chr15:89,218,601...89,221,218 		JBrowse link
G Mir1249 microRNA 1249 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:84,835,727...84,835,824
Ensembl chr15:84,835,727...84,835,824 		JBrowse link
G Mirlet7b microRNA let7b ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:85,591,520...85,591,604
Ensembl chr15:85,591,520...85,591,604 		JBrowse link
G Mirlet7c-2 microRNA let7c-2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:85,590,804...85,590,898
Ensembl chr15:85,590,804...85,590,898 		JBrowse link
G Mlc1 megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:88,840,087...88,863,192
Ensembl chr15:88,840,087...88,863,210 		JBrowse link
G Mov10l1 Mov10 like RISC complex RNA helicase 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:88,867,094...88,939,355
Ensembl chr15:88,867,112...88,939,355 		JBrowse link
G Mpped1 metallophosphoesterase domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:83,656,256...83,742,688
Ensembl chr15:83,663,668...83,742,695 		JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,239,920...89,257,030
Ensembl chr15:89,239,922...89,257,029 		JBrowse link
G Nup50 nucleoporin 50 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:84,800,100...84,827,164
Ensembl chr15:84,807,612...84,827,164 		JBrowse link
G Panx2 pannexin 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:88,941,797...88,957,769
Ensembl chr15:88,943,937...88,957,770 		JBrowse link
G Parvb parvin, beta ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:84,116,244...84,199,890
Ensembl chr15:84,116,244...84,199,889 		JBrowse link
G Parvg parvin, gamma ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:84,208,388...84,227,179
Ensembl chr15:84,208,227...84,227,179 		JBrowse link
G Phf21b PHD finger protein 21B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:84,669,577...84,740,330
Ensembl chr15:84,669,582...84,740,250 		JBrowse link
G Pim3 proviral integration site 3 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:88,746,397...88,749,929
Ensembl chr15:88,746,389...88,749,929 		JBrowse link
G Pkdrej polycystin (PKD) family receptor for egg jelly ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:85,698,877...85,705,934
Ensembl chr15:85,698,871...85,705,935 		JBrowse link
G Plxnb2 plexin B2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,039,752...89,064,960
Ensembl chr15:89,039,752...89,064,991 		JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:84,052,017...84,073,720
Ensembl chr15:84,052,038...84,071,437 		JBrowse link
G Pnpla5 patatin-like phospholipase domain containing 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:83,996,631...84,007,567
Ensembl chr15:83,996,557...84,007,376 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020 		JBrowse link
G Ppp6r2 protein phosphatase 6, regulatory subunit 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,095,654...89,171,218
Ensembl chr15:89,095,756...89,171,213 		JBrowse link
G Prr5 proline rich 5 (renal) ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:84,547,407...84,590,610
Ensembl chr15:84,553,821...84,587,874 		JBrowse link
G Rabl2 RAB, member RAS oncogene family-like 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,466,730...89,476,126
Ensembl chr15:89,466,736...89,476,126 		JBrowse link
G Ribc2 RIB43A domain with coiled-coils 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:85,016,261...85,028,771
Ensembl chr15:85,016,279...85,028,771 		JBrowse link
G Rtl6 retrotransposon Gag like 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:84,437,599...84,442,024
Ensembl chr15:84,437,599...84,442,024 		JBrowse link
G Samm50 SAMM50 sorting and assembly machinery component ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:84,076,441...84,100,284
Ensembl chr15:84,076,442...84,101,468 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,171,138...89,199,514
Ensembl chr15:89,172,439...89,199,514 		JBrowse link
G Sco2 SCO2 cytochrome c oxidase assembly protein ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,255,833...89,258,094
Ensembl chr15:89,255,840...89,258,049 		JBrowse link
G Scube1 signal peptide, CUB domain, EGF-like 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:83,486,784...83,609,252
Ensembl chr15:83,489,200...83,609,222 		JBrowse link
G Selenoo selenoprotein O ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:88,973,241...88,984,542
Ensembl chr15:88,973,287...88,984,543 		JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO
IAGP		 ClinVar Annotator: match by term: Phelan-McDermid syndrome
OMIM:606232
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:16284256 PMID:17173049 PMID:20301377 PMID:21062623 PMID:22892527 More... RGD:41404704 NCBI chr15:89,376,929...89,444,464
Ensembl chr15:89,383,826...89,444,464 		JBrowse link
G Shisal1 shisa like 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:84,263,404...84,367,061
Ensembl chr15:84,263,404...84,331,298 		JBrowse link
G Smc1b structural maintenance of chromosomes 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:84,948,890...85,016,158
Ensembl chr15:84,948,890...85,016,165 		JBrowse link
G Sult4a1 sulfotransferase family 4A, member 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:83,960,298...83,989,955
Ensembl chr15:83,960,298...83,989,955 		JBrowse link
G Syce3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,274,377...89,294,706
Ensembl chr15:89,274,377...89,294,706 		JBrowse link
G Tafa5 TAFA chemokine like family member 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:87,428,405...87,643,565
Ensembl chr15:87,428,500...87,643,565 		JBrowse link
G Tbc1d22a TBC1 domain family, member 22a ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:86,095,502...86,382,704
Ensembl chr15:86,098,660...86,382,704 		JBrowse link
G Tcf20 transcription factor 20 IAGP OMIM:606232 MouseDO NCBI chr15:82,692,648...82,872,304
Ensembl chr15:82,692,637...82,872,073 		JBrowse link
G Trabd TraB domain containing ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:88,960,267...88,971,278
Ensembl chr15:88,959,327...88,971,280 		JBrowse link
G Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:85,763,505...85,781,595
Ensembl chr15:85,763,513...85,781,595 		JBrowse link
G Tspo translocator protein ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:83,447,774...83,458,404
Ensembl chr15:83,447,793...83,458,404 		JBrowse link
G Ttc38 tetratricopeptide repeat domain 38 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:85,716,545...85,743,023
Ensembl chr15:85,716,507...85,743,023 		JBrowse link
G Ttll1 tubulin tyrosine ligase-like 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:83,367,258...83,402,675
Ensembl chr15:83,367,970...83,395,094 		JBrowse link
G Ttll12 tubulin tyrosine ligase-like family, member 12 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:83,459,295...83,479,358
Ensembl chr15:83,459,291...83,479,358 		JBrowse link
G Ttll8 tubulin tyrosine ligase-like family, member 8 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:88,773,981...88,839,258
Ensembl chr15:88,774,836...88,838,621 		JBrowse link
G Tubgcp6 tubulin, gamma complex component 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:88,983,300...89,007,411
Ensembl chr15:88,982,560...89,007,315 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:89,255,834...89,261,282
Ensembl chr15:89,256,134...89,261,242 		JBrowse link
G Upk3a uroplakin 3A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:84,901,342...84,906,761
Ensembl chr15:84,901,342...84,906,748 		JBrowse link
G Wnt7b wingless-type MMTV integration site family, member 7B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:85,419,638...85,466,022
Ensembl chr15:85,419,638...85,466,674 		JBrowse link
G Zbed4 zinc finger, BED type containing 4 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr15:88,635,856...88,668,719
Ensembl chr15:88,635,863...88,668,719 		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 2:153,187,750...153,245,927
Ensembl chr 2:153,187,749...153,245,927 		JBrowse link
G Kmt2a lysine (K)-specific methyltransferase 2A ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594 		JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085 		JBrowse link
Rubinstein-Taybi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700037C18Rik RIKEN cDNA 1700037C18 gene ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr16:3,723,662...3,726,553
Ensembl chr16:3,713,043...3,726,553 		JBrowse link
G 4930562C15Rik RIKEN cDNA 4930562C15 gene ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr16:4,653,280...4,685,555
Ensembl chr16:4,653,280...4,685,550 		JBrowse link
G Aco2 aconitase 2, mitochondrial ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:81,756,664...81,799,338
Ensembl chr15:81,756,510...81,799,334 		JBrowse link
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 chr16:4,102,750...4,255,094
Ensembl chr16:4,105,393...4,238,362 		JBrowse link
G Adsl adenylosuccinate lyase ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:80,832,691...80,855,148
Ensembl chr15:80,832,691...80,855,147 		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 chr16:5,051,410...5,062,773
Ensembl chr16:5,051,485...5,062,776 		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 chr16:4,759,290...4,783,362
Ensembl chr16:4,759,300...4,782,069 		JBrowse link
G Apobec3 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:79,774,620...79,802,419
Ensembl chr15:79,775,860...79,800,107 		JBrowse link
G Art2b ADP-ribosyltransferase 2b ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr 7:101,224,936...101,234,790
Ensembl chr 7:101,226,177...101,234,807 		JBrowse link
G Atf4 activating transcription factor 4 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:80,139,385...80,141,746
Ensembl chr15:80,139,385...80,141,742 		JBrowse link
G AU021092 expressed sequence AU021092 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr16:5,029,677...5,040,170
Ensembl chr16:5,029,687...5,040,163 		JBrowse link
G Cacna1i calcium channel, voltage-dependent, alpha 1I subunit ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:80,171,439...80,282,493
Ensembl chr15:80,171,439...80,282,480 		JBrowse link
G Cbx7 chromobox 7 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:79,800,005...79,855,344
Ensembl chr15:79,800,008...79,855,320 		JBrowse link
G Cdip1 cell death inducing Trp53 target 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr16:4,583,325...4,608,156
Ensembl chr16:4,568,212...4,608,156 		JBrowse link
G Chadl chondroadherin-like ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:81,570,366...81,581,564
Ensembl chr15:81,562,497...81,581,488 		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 chr16:3,725,058...3,760,163
Ensembl chr16:3,726,665...3,759,011 		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 chr16:4,444,748...4,497,584
Ensembl chr16:4,443,997...4,497,641 		JBrowse link
G Crebbp CREB binding protein IAGP
ISO		 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 SYNDROME | 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 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
OMIM:180849 | OMIM:610543 | OMIM:613684		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:7630403 PMID:8967953 PMID:9536098 PMID:11331617 PMID:12070251 More... RGD:734820 NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		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 chr16:4,782,152...4,796,827
Ensembl chr16:4,782,090...4,796,826
Ensembl chr16:4,782,090...4,796,826 		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 chr16:4,501,934...4,525,559
Ensembl chr16:4,457,853...4,525,559 		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 chr15:81,291,289...81,292,474
Ensembl chr15:81,291,127...81,292,500 		JBrowse link
G Dnase1 deoxyribonuclease I ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr16:3,855,007...3,857,888
Ensembl chr16:3,854,806...3,857,888 		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 chr16:5,062,019...5,073,820
Ensembl chr16:5,062,016...5,073,847 		JBrowse link
G Enthd1 ENTH domain containing 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:80,335,916...80,449,384
Ensembl chr15:80,336,441...80,449,357 		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 2 | 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 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 chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278 		JBrowse link
G Fam83f family with sequence similarity 83, member F ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:80,555,829...80,584,626
Ensembl chr15:80,556,048...80,584,626 		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 chr16:4,412,217...4,443,076
Ensembl chr16:4,412,577...4,442,788 		JBrowse link
G Glyr1 glyoxylate reductase 1 homolog (Arabidopsis) ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr16:4,831,766...4,867,780
Ensembl chr16:4,831,773...4,867,727 		JBrowse link
G Gm41409 predicted gene, 41409 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr16:3,593,606...3,596,221
Ensembl chr16:3,588,318...3,603,593 		JBrowse link
G Grap2 GRB2-related adaptor protein 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:80,456,798...80,537,055
Ensembl chr15:80,456,795...80,537,055 		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 chr16:4,544,225...4,584,606
Ensembl chr16:4,544,225...4,584,606 		JBrowse link
G L3mbtl2 L3MBTL2 polycomb repressive complex 1 subunit ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:81,548,090...81,572,516
Ensembl chr15:81,548,090...81,572,516 		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 chr15:81,119,700...81,123,165
Ensembl chr15:81,119,700...81,123,165 		JBrowse link
G Mefv Mediterranean fever ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961 		JBrowse link
G Mgat3 mannoside acetylglucosaminyltransferase 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:80,057,852...80,099,720
Ensembl chr15:80,057,922...80,099,720 		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 chr16:4,703,964...4,756,160
Ensembl chr16:4,704,113...4,756,160 		JBrowse link
G Mief1 mitochondrial elongation factor 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:80,118,284...80,137,572
Ensembl chr15:80,118,219...80,137,572 		JBrowse link
G Mrtfa myocardin related transcription factor A ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:80,896,482...81,074,937
Ensembl chr15:80,896,482...81,074,958 		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 chr16:3,690,365...3,722,645
Ensembl chr16:3,690,239...3,722,634 		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 chr16:5,013,144...5,024,891
Ensembl chr16:5,013,153...5,021,876 		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 chr16:3,762,871...3,796,881
Ensembl chr16:3,762,871...3,794,496 		JBrowse link
G Nmral1 NmrA-like family 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 chr16:4,529,181...4,537,220
Ensembl chr16:4,527,923...4,537,220 		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 chr16:4,756,975...4,758,892
Ensembl chr16:4,756,625...4,758,896 		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 chr16:3,656,839...3,657,777
Ensembl chr16:3,648,742...3,662,611 		JBrowse link
G Pam16 presequence translocase-asssociated 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 chr16:4,434,330...4,442,810
Ensembl chr16:4,434,328...4,442,852 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:11479594 PMID:12510040 PMID:15659606 PMID:15834858 PMID:16272150 More... NCBI chr 2:131,103,928...131,141,108
Ensembl chr 2:131,104,415...131,141,108 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:81,748,717...81,756,093
Ensembl chr15:81,748,721...81,756,112 		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 chr16:4,904,155...4,950,345
Ensembl chr16:4,904,155...4,950,285 		JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:81,588,449...81,614,120
Ensembl chr15:81,588,449...81,629,731 		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 chr15:81,350,517...81,360,570
Ensembl chr15:81,350,497...81,360,570 		JBrowse link
G Rogdi rogdi homolog 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 chr16:4,826,593...4,831,438
Ensembl chr16:4,826,594...4,831,417 		JBrowse link
G Rpl3 ribosomal protein L3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:79,961,993...79,967,553
Ensembl chr15:79,961,992...79,976,069 		JBrowse link
G Rps19bp1 ribosomal protein S19 binding protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:80,144,815...80,148,507
Ensembl chr15:80,144,816...80,148,516 		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 chr16:4,964,758...5,005,135
Ensembl chr16:4,964,973...5,005,135 		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 chr16:4,804,722...4,815,716
Ensembl chr16:4,804,722...4,815,716 		JBrowse link
G Sgsm3 small G protein signaling modulator 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:80,861,966...80,896,491
Ensembl chr15:80,861,966...80,896,491 		JBrowse link
G Slc25a17 solute carrier family 25 (mitochondrial carrier, peroxisomal membrane protein), member 17 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr15:81,203,122...81,244,966
Ensembl chr15:81,203,112...81,245,013 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634 		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 chr16:4,825,152...4,826,173
Ensembl chr16:4,825,152...4,826,173 		JBrowse link
G Snord43 small nucleolar RNA, C/D box 43 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:79,967,060...79,967,107
Ensembl chr15:79,967,048...79,967,155 		JBrowse link
G Snord83b small nucleolar RNA, C/D box 83B ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:79,962,704...79,962,780
Ensembl chr15:79,962,699...79,962,792 		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 chr16:4,294,843...4,359,772
Ensembl chr16:4,298,080...4,359,680 		JBrowse link
G St13 suppression of tumorigenicity 13 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr15:81,247,869...81,284,278
Ensembl chr15:81,247,870...81,284,278 		JBrowse link
G Syngr1 synaptogyrin 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:79,975,537...80,003,702
Ensembl chr15:79,975,535...80,003,702 		JBrowse link
G Tab1 TGF-beta activated kinase 1/MAP3K7 binding protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:80,017,333...80,045,908
Ensembl chr15:80,017,328...80,045,908 		JBrowse link
G Tef thyrotroph embryonic factor ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:81,686,874...81,711,064
Ensembl chr15:81,686,622...81,711,064 		JBrowse link
G Tfap4 transcription factor AP4 ISO 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 PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More... NCBI chr16:4,362,525...4,378,625
Ensembl chr16:4,362,525...4,377,718 		JBrowse link
G Tnrc6b trinucleotide repeat containing 6b ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:80,595,514...80,825,287
Ensembl chr15:80,595,514...80,825,286 		JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:81,732,471...81,744,742
Ensembl chr15:81,732,473...81,742,997 		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 chr16:3,857,835...3,895,704
Ensembl chr16:3,857,835...3,895,691 		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 chr16:4,692,641...4,698,190
Ensembl chr16:4,692,642...4,698,179 		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 chr16:4,867,921...4,904,153
Ensembl chr16:4,867,921...4,904,153 		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 chr16:4,457,809...4,469,030
Ensembl chr16:4,457,805...4,468,666 		JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3, mitochondrial ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr15:81,284,282...81,341,683
Ensembl chr15:81,284,339...81,341,683 		JBrowse link
G Zc3h7b zinc finger CCCH type containing 7B ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr15:81,629,299...81,680,470
Ensembl chr15:81,629,258...81,680,461 		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 chr16:3,665,105...3,691,751
Ensembl chr16:3,665,132...3,676,744 		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 chr16:3,561,883...3,568,654
Ensembl chr16:3,561,957...3,568,654 		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 chr16:3,679,408...3,702,241
Ensembl chr16:3,676,185...3,702,425 		JBrowse link
SATB2-associated syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gtf3c3 general transcription factor IIIC, polypeptide 3 ISO ClinVar Annotator: match by term: Chromosome 2q32-q33 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:54,435,036...54,478,185
Ensembl chr 1:54,435,163...54,478,130 		JBrowse link
G Satb2 special AT-rich sequence binding protein 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-associated syndrome | ClinVar Annotator: match by term: SATB2-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17377962 PMID:17576681 PMID:21343628 More... NCBI chr 1:56,833,145...57,019,350
Ensembl chr 1:56,833,140...57,017,809 		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:13,383,319...13,713,020
Ensembl chr  X:13,383,319...13,717,606 		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 PMID:34205586 NCBI chr 8:84,859,457...84,874,546
Ensembl chr 8:84,859,457...84,874,565 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:25741868 PMID:27799067 PMID:28492532 NCBI chr19:30,075,847...30,152,829
Ensembl chr19:30,075,847...30,152,829 		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 chr 5:37,182,424...37,307,958
Ensembl chr 5:37,185,679...37,307,951
Ensembl chr 5:37,185,679...37,307,951 		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:151,015,698...151,062,098
Ensembl chr  X:151,016,016...151,057,531 		JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085 		JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809 		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:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296 		JBrowse link
G Rai1 retinoic acid induced 1 ISO
IAGP		 DNA:deletions, frameshift mutations:cds:
ClinVar Annotator: match by term: RAI1-related condition | ClinVar Annotator: match by term: Smith-Magenis syndrome
ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome | ClinVar Annotator: match by term: Smith-Magenis syndrome
OMIM:182290
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8841119 PMID:12652298 PMID:15459175 PMID:15746153 PMID:15788730 More... RGD:1599405 NCBI chr11:59,995,743...60,090,023
Ensembl chr11:59,995,839...60,090,023 		JBrowse link
G Sms spermine synthase ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25741868 NCBI chr  X:156,226,847...156,275,283
Ensembl chr  X:156,226,851...156,275,283 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25087610 NCBI chr11:60,089,910...60,113,407
Ensembl chr11:60,089,915...60,113,407 		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 2:127,089,868...127,103,028
Ensembl chr 2:127,089,828...127,103,027 		JBrowse link
G Tom1l2 target of myb1-like 2 (chicken) ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25087610 NCBI chr11:60,114,622...60,243,766
Ensembl chr11:60,117,540...60,243,731 		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 2:44,873,523...45,007,378
Ensembl chr 2:44,873,644...45,007,407 		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 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome ClinVar PMID:14585638 PMID:15703190 PMID:17273972 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		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 3:97,066,070...97,083,892
Ensembl chr 3:97,066,093...97,084,615 		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 3:96,503,599...96,507,442
Ensembl chr 3:96,503,952...96,507,091 		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 3:96,577,447...96,598,350
Ensembl chr 3:96,577,447...96,598,348 		JBrowse link
G Bcl9 B cell CLL/lymphoma 9 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:97,110,974...97,205,718
Ensembl chr 3:97,110,978...97,205,233 		JBrowse link
G Cd160 CD160 antigen ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:96,706,079...96,736,667
Ensembl chr 3:96,706,079...96,736,667 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:97,468,056...97,517,538
Ensembl chr 3:97,468,058...97,517,519 		JBrowse link
G Fmo5 flavin containing monooxygenase 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:97,517,248...97,562,603
Ensembl chr 3:97,536,120...97,562,598 		JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:96,939,718...96,960,950
Ensembl chr 3:96,812,009...96,984,732 		JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:96,820,882...96,833,367
Ensembl chr 3:96,820,882...96,833,336 		JBrowse link
G Gm23737 predicted gene, 23737 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr15:88,903,424...88,903,582
Ensembl chr15:88,903,424...88,903,582 		JBrowse link
G Gm57479 predicted gene, 57479 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:96,357,762...96,357,927
Ensembl chr 3:96,357,762...96,357,927 		JBrowse link
G Gpr89 G protein-coupled receptor 89 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:96,775,630...96,812,662
Ensembl chr 3:96,775,597...96,812,662 		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 3:96,432,479...96,436,532
Ensembl chr 3:96,432,488...96,436,526 		JBrowse link
G Itga10 integrin, 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 3:96,552,900...96,571,835
Ensembl chr 3:96,552,900...96,571,835 		JBrowse link
G Lix1l Lix1-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 3:96,508,449...96,532,668
Ensembl chr 3:96,508,465...96,533,487 		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 3:96,613,208...96,616,233
Ensembl chr 3:96,613,383...96,615,878 		JBrowse link
G Pdzk1 PDZ domain containing 1 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:96,736,772...96,778,242
Ensembl chr 3:96,736,600...96,778,242 		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:25741868 More... NCBI chr 3:96,542,673...96,552,697
Ensembl chr 3:96,542,692...96,552,682 		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 3:96,603,679...96,613,386
Ensembl chr 3:96,603,700...96,613,386 		JBrowse link
G Polr3c polymerase (RNA) III (DNA directed) polypeptide 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 3:96,618,836...96,634,803
Ensembl chr 3:96,618,806...96,634,944 		JBrowse link
G Polr3gl polymerase (RNA) III (DNA directed) polypeptide G 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 3:96,485,188...96,501,497
Ensembl chr 3:96,485,188...96,501,497 		JBrowse link
G Prkab2 protein kinase, AMP-activated, beta 2 non-catalytic subunit ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:97,565,527...97,581,128
Ensembl chr 3:97,565,509...97,581,128 		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 3:96,537,244...96,541,107
Ensembl chr 3:96,537,249...96,541,107 		JBrowse link
G Rnf115 ring finger protein 115 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 3:96,634,869...96,698,471
Ensembl chr 3:96,634,980...96,698,954 		JBrowse link
G Rnu1a1 U1a1 small nuclear RNA ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr11:87,313,693...87,313,856
Ensembl chr11:87,313,693...87,313,856 		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 3:96,465,273...96,469,173
Ensembl chr 3:96,465,273...96,469,199 		JBrowse link
velocardiofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2510002D24Rik RIKEN cDNA 2510002D24 gene ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:18,655,263...18,658,910
Ensembl chr16:18,655,328...18,658,910 		JBrowse link
G Aifm3 apoptosis-inducing factor, mitochondrion-associated 3 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:17,307,418...17,325,349
Ensembl chr16:17,307,475...17,325,349 		JBrowse link
G Arvcf armadillo repeat gene deleted in velocardiofacial syndrome ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:18,166,046...18,225,826
Ensembl chr16:18,166,046...18,225,826 		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 chr16:18,032,091...18,038,211
Ensembl chr16:18,035,743...18,038,212 		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 chr16:18,599,202...18,632,371
Ensembl chr16:18,599,197...18,630,737 		JBrowse link
G Chrd chordin IAGP OMIM:192430 MouseDO NCBI chr16:20,551,528...20,561,132
Ensembl chr16:20,551,877...20,561,134 		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 chr16:18,595,597...18,597,012
Ensembl chr16:18,595,597...18,597,012 		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 chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602 		JBrowse link
G Crkl v-crk avian sarcoma virus CT10 oncogene homolog-like IAGP
ISO		 OMIM:192430
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome		 MouseDO
ClinVar		 PMID:25741868 NCBI chr16:17,269,849...17,305,304
Ensembl chr16:17,269,851...17,305,298 		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 chr16:17,658,219...17,709,592
Ensembl chr16:17,657,346...17,716,426 		JBrowse link
G Dgcr6 DiGeorge syndrome critical region gene 6 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr16:17,870,736...17,889,497
Ensembl chr16:17,870,724...17,889,496 		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 chr16:18,071,812...18,107,115
Ensembl chr16:18,071,812...18,107,110 		JBrowse link
G Ednra endothelin receptor type A IAGP OMIM:192430 MouseDO NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093 		JBrowse link
G Ess2 ess-2 splicing factor ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:17,718,573...17,729,225
Ensembl chr16:17,718,573...17,729,212 		JBrowse link
G Gm14305 predicted gene 14305 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr 2:176,400,146...176,413,606
Ensembl chr 2:176,400,121...176,413,606 		JBrowse link
G Gm25777 predicted gene, 25777 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:18,058,581...18,058,706
Ensembl chr16:18,058,581...18,058,706 		JBrowse link
G Gnb1l guanine nucleotide binding protein (G protein), beta polypeptide 1-like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:18,316,029...18,385,430
Ensembl chr16:18,317,463...18,385,429 		JBrowse link
G Gp1bb glycoprotein Ib, beta polypeptide ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:18,439,069...18,441,153
Ensembl chr16:18,439,067...18,441,153 		JBrowse link
G Gsc2 goosecoid homebox 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:17,730,978...17,732,891
Ensembl chr16:17,730,971...17,732,923 		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 chr16:18,695,500...18,789,059
Ensembl chr16:18,695,787...18,789,059 		JBrowse link
G Klhl22 kelch-like 22 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:17,577,485...17,611,246
Ensembl chr16:17,577,482...17,611,246 		JBrowse link
G LOC114827938 VISTA enhancer mm1629 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:17,627,075...17,629,017 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 chr16:17,362,329...17,379,159
Ensembl chr16:17,362,329...17,379,111 		JBrowse link
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 IAGP OMIM:192430 MouseDO NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317 		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 chr16:17,469,072...17,540,811
Ensembl chr16:17,469,072...17,550,755 		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 chr16:18,102,103...18,102,181
Ensembl chr16:18,102,103...18,102,181 		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 chr16:18,145,265...18,145,329
Ensembl chr16:18,145,265...18,145,329 		JBrowse link
G Mir3618 microRNA 3618 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:18,102,414...18,102,501
Ensembl chr16:18,102,414...18,102,501 		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 chr16:18,690,767...18,695,875
Ensembl chr16:18,690,768...18,695,612 		JBrowse link
G P2rx6 purinergic receptor P2X, ligand-gated ion channel, 6 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:17,379,749...17,389,879
Ensembl chr16:17,379,749...17,395,664 		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 chr16:17,098,215...17,224,178
Ensembl chr16:17,098,215...17,224,178 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 IAGP OMIM:192430 MouseDO NCBI chr15:93,396,992...93,494,147
Ensembl chr15:93,396,995...93,493,772 		JBrowse link
G Prodh proline dehydrogenase ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr16:17,889,593...17,907,147
Ensembl chr16:17,878,221...17,908,067 		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 chr16:18,057,843...18,066,558
Ensembl chr16:18,057,648...18,066,596 		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 chr16:17,945,506...17,970,272
Ensembl chr16:17,945,506...17,970,272 		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 chr16:17,615,146...17,626,158
Ensembl chr16:17,615,146...17,626,157 		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 chr16:18,440,561...18,448,688
Ensembl chr16:18,439,252...18,448,704 		JBrowse link
G Serpind1 serine (or cysteine) peptidase inhibitor, clade D, member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:17,149,235...17,161,438
Ensembl chr16:17,149,235...17,161,439 		JBrowse link
G Slc25a1 solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:17,743,075...17,746,083
Ensembl chr16:17,743,087...17,746,083 		JBrowse link
G Slc7a4 solute carrier family 7 (cationic amino acid transporter, y+ system), member 4 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:17,389,882...17,394,619
Ensembl chr16:17,389,882...17,401,078 		JBrowse link
G Snap29 synaptosomal-associated protein 29 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:17,223,864...17,248,690
Ensembl chr16:17,223,850...17,248,691 		JBrowse link
G Tango2 transport and golgi organization 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:18,118,689...18,165,962
Ensembl chr16:18,118,689...18,165,967 		JBrowse link
G Tbx1 T-box 1 ISO
IAGP		 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 chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		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 chr16:17,345,823...17,349,975
Ensembl chr16:17,345,846...17,349,000 		JBrowse link
G Trappc10 trafficking protein particle complex 10 IAGP OMIM:192430 MouseDO NCBI chr10:78,021,256...78,080,479
Ensembl chr10:78,022,559...78,080,475 		JBrowse link
G Trmt2a TRM2 tRNA methyltransferase 2A ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:18,066,747...18,072,636
Ensembl chr16:18,066,543...18,072,636 		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 chr16:17,716,501...17,717,888
Ensembl chr16:17,716,501...17,717,888 		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 chr16:18,245,167...18,297,823
Ensembl chr16:18,245,134...18,297,823 		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 chr16:18,630,486...18,654,011
Ensembl chr16:18,630,529...18,654,011 		JBrowse link
G Zdhhc8 zinc finger, DHHC domain containing 8 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr16:18,038,612...18,056,471
Ensembl chr16:18,038,617...18,053,000 		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:25741868 PMID:28492532 NCBI chr 2:105,527,665...105,734,909
Ensembl chr 2:105,531,372...105,734,909 		JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar NCBI chr 2:105,490,598...105,506,398 JBrowse link
G LOC107983946 Wt1 promoter region 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 ClinVar PMID:8621495 PMID:12640141 PMID:16987884 PMID:23349334 PMID:25741868 More... NCBI chr 2:104,956,361...104,957,127 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 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		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 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961 		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 chr 5:135,038,006...135,041,029
Ensembl chr 5:135,038,006...135,041,029 		JBrowse link
G Abhd11os abhydrolase domain containing 11, opposite strand ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr 5:135,040,976...135,042,011
Ensembl chr 5:135,041,040...135,041,642 		JBrowse link
G Baz1b bromodomain adjacent to zinc finger domain, 1B ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Williams syndrome
OMIM:194050		 CTD
ClinVar
MouseDO		 PMID:16448863 PMID:25741868 NCBI chr 5:135,214,094...135,274,985
Ensembl chr 5:135,216,118...135,274,983 		JBrowse link
G Bcl7b B cell CLL/lymphoma 7B ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr 5:135,197,226...135,210,706
Ensembl chr 5:135,197,137...135,210,709 		JBrowse link
G Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor ISO ClinVar Annotator: match by term: Williams syndrome ClinVar
RGD		 PMID:25741868 PMID:11978965 RGD:1580601 NCBI chr 5:135,081,811...135,093,813
Ensembl chr 5:135,081,811...135,093,813 		JBrowse link
G Cldn3 claudin 3 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr 5:135,015,068...135,016,330
Ensembl chr 5:135,015,068...135,016,326 		JBrowse link
G Cldn4 claudin 4 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr 5:134,973,977...134,975,788
Ensembl chr 5:134,973,973...134,975,788 		JBrowse link
G Clip2 CAP-GLY domain containing linker protein 2 IMP
ISO
IAGP		 ClinVar Annotator: match by term: Williams syndrome
OMIM:194050		 ClinVar
MouseDO
RGD		 PMID:25741868 PMID:12195424 RGD:734863 NCBI chr 5:134,518,237...134,582,922
Ensembl chr 5:134,518,237...134,581,288 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:194050		 CTD
MouseDO		 PMID:20952458 NCBI chr11:69,908,029...69,938,107
Ensembl chr11:69,907,768...69,938,348 		JBrowse link
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar
RGD		 PMID:25741868 PMID:12073013 RGD:1580600 NCBI chr 5:135,093,060...135,094,219
Ensembl chr 5:135,093,056...135,094,716 		JBrowse link
G Eif4h eukaryotic translation initiation factor 4H ISO
IAGP		 ClinVar Annotator: match by term: Williams syndrome
OMIM:194050		 ClinVar
MouseDO
RGD		 PMID:25741868 PMID:8812460 RGD:1580597 NCBI chr 5:134,648,726...134,668,263
Ensembl chr 5:134,648,575...134,668,344 		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 | ClinVar Annotator: match by term: Williams-Beuren 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 chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Fkbp6 FK506 binding protein 6 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar
RGD		 PMID:25741868 PMID:9782077 RGD:1582483 NCBI chr 5:135,320,558...135,380,662
Ensembl chr 5:135,320,558...135,378,898 		JBrowse link
G Fzd3 frizzled class receptor 3 ISO RGD PMID:9147651 RGD:1582654 NCBI chr14:65,429,890...65,499,912
Ensembl chr14:65,429,898...65,499,912 		JBrowse link
G Fzd9 frizzled class receptor 9 IAGP
ISO		 OMIM:194050
ClinVar Annotator: match by term: Williams syndrome		 MouseDO
ClinVar		 PMID:25741868 NCBI chr 5:135,277,792...135,279,901
Ensembl chr 5:135,277,792...135,280,084 		JBrowse link
G Gtf2i general transcription factor II I ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Williams syndrome
OMIM:194050		 CTD
ClinVar
MouseDO		 PMID:20007321 PMID:21328569 PMID:25741868 NCBI chr 5:134,266,686...134,346,571
Ensembl chr 5:134,266,688...134,343,614 		JBrowse link
G Gtf2ird1 general transcription factor II I repeat domain-containing 1 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Williams syndrome
OMIM:194050		 CTD
ClinVar
MouseDO		 PMID:20007321 PMID:25741868 NCBI chr 5:134,386,515...134,485,628
Ensembl chr 5:134,386,510...134,485,570 		JBrowse link
G Lat2 linker for activation of T cells family, member 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr 5:134,628,957...134,648,637
Ensembl chr 5:134,628,876...134,643,879 		JBrowse link
G Limk1 LIM domain kinase 1 IAGP
ISO		 OMIM:194050
ClinVar Annotator: match by term: Williams syndrome		 MouseDO
ClinVar		 PMID:25741868 NCBI chr 5:134,684,893...134,718,713
Ensembl chr 5:134,684,893...134,717,452 		JBrowse link
G Lox lysyl oxidase IAGP OMIM:194050 MouseDO NCBI chr18:52,649,132...52,662,939
Ensembl chr18:52,649,139...52,662,939 		JBrowse link
G Mettl27 methyltransferase like 27 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr 5:134,961,158...134,971,491
Ensembl chr 5:134,961,222...134,971,491 		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 chr 5:135,118,744...135,168,622
Ensembl chr 5:135,118,744...135,167,236 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO RGD PMID:16532385 RGD:1624399 NCBI chr 5:134,248,907...134,258,479
Ensembl chr 5:134,248,907...134,258,479 		JBrowse link
G Nsun5 NOL1/NOP2/Sun domain family, member 5 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr 5:135,398,784...135,405,661
Ensembl chr 5:135,398,807...135,405,659 		JBrowse link
G Rcc1l reculator of chromosome condensation 1 like ISO RGD PMID:12073013 RGD:1580600 NCBI chr 5:134,176,897...134,207,963
Ensembl chr 5:134,176,893...134,205,613 		JBrowse link
G Rfc2 replication factor C (activator 1) 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr 5:134,611,544...134,627,182
Ensembl chr 5:134,610,220...134,630,659 		JBrowse link
G Src Rous sarcoma oncogene IAGP OMIM:194050 MouseDO NCBI chr 2:157,265,828...157,313,758
Ensembl chr 2:157,260,364...157,313,782 		JBrowse link
G Stx1a syntaxin 1A (brain) ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr 5:135,051,473...135,079,954
Ensembl chr 5:135,052,336...135,079,954 		JBrowse link
G Tbl2 transducin (beta)-like 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr 5:135,178,288...135,192,727
Ensembl chr 5:135,178,511...135,194,614 		JBrowse link
G Tmem270 transmembrane protein 270 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr 5:134,930,447...134,935,587
Ensembl chr 5:134,930,447...134,935,587 		JBrowse link
G Trim50 tripartite motif-containing 50 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr 5:135,380,738...135,396,744
Ensembl chr 5:135,382,149...135,396,859 		JBrowse link
G Vps37d vacuolar protein sorting 37D ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr 5:135,101,751...135,107,197
Ensembl chr 5:135,101,754...135,107,120 		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 chr 5:108,666,420...108,697,893
Ensembl chr 5:108,666,420...108,697,890 		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 chr 5:33,405,067...33,432,348
Ensembl chr 5:33,405,067...33,432,338 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome
OMIM:194190		 CTD
ClinVar
MouseDO		 PMID:25741868 PMID:28492532 NCBI chr 5:108,842,051...108,854,816
Ensembl chr 5:108,840,248...108,854,790 		JBrowse link
G Letm1 leucine zipper-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 chr 5:33,897,017...33,940,061
Ensembl chr 5:33,897,017...33,940,161 		JBrowse link
G Msx1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630905 NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome
OMIM:194190		 CTD
ClinVar
MouseDO		 PMID:11252005 PMID:24874954 PMID:25741868 PMID:28492532 PMID:29760529 More... NCBI chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319 		JBrowse link
G Nuf2 NUF2, NDC80 kinetochore complex component ISO ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome ClinVar NCBI chr 1:169,325,503...169,359,033
Ensembl chr 1:169,325,503...169,359,033 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16263
    Pathological Conditions, Signs and Symptoms 12648
      Pathologic Processes 8067
        Chromosome Aberrations 2878
          Aneuploidy 1956
            Monosomy 1680
              Chromosome 18 Mosaic Monosomy 0
              Chromosome Deletion + 1680
paths to the root