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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 Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:627,089...655,922
Ensembl chrNW_004624746:628,010...655,950 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:378,123...576,809
Ensembl chrNW_004624746:461,933...577,050 		JBrowse link
G Aprt adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:805,742...807,963
Ensembl chrNW_004624746:805,758...807,963 		JBrowse link
G Banp BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:1,205,212...1,287,108
Ensembl chrNW_004624746:1,203,275...1,286,241 		JBrowse link
G Ca5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:1,293,619...1,323,067
Ensembl chrNW_004624746:1,293,875...1,315,890 		JBrowse link
G Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:716,848...773,169
Ensembl chrNW_004624746:716,836...773,169 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:603,723...617,616
Ensembl chrNW_004624746:605,012...617,582 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:808,463...813,464
Ensembl chrNW_004624746:809,252...812,993 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:871,707...878,047
Ensembl chrNW_004624746:871,668...877,719 		JBrowse link
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:3,034,458...3,078,230
Ensembl chrNW_004624746:3,043,600...3,078,223 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:786,259...805,450
Ensembl chrNW_004624746:786,422...805,073 		JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:919,239...922,336
Ensembl chrNW_004624746:920,266...921,967 		JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:3,193,695...3,243,916
Ensembl chrNW_004624746:3,193,687...3,242,444 		JBrowse link
G LOC101717043 cytochrome b-245 light chain ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:911,852...919,361
Ensembl chrNW_004624746:911,842...919,362 		JBrowse link
G Map1lc3b microtubule associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:3,084,418...3,094,250
Ensembl chrNW_004624746:3,084,392...3,094,250 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:905,919...911,591
Ensembl chrNW_004624746:905,757...911,591 		JBrowse link
G Pabpn1l PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:776,692...779,187
Ensembl chrNW_004624746:776,677...779,555 		JBrowse link
G Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:821,651...871,481
Ensembl chrNW_004624746:821,726...871,481 		JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:877,581...886,157
Ensembl chrNW_004624746:878,208...886,647 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:339,103...341,900
Ensembl chrNW_004624746:339,103...341,828 		JBrowse link
G Slc22a31 solute carrier family 22 member 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:600,884...604,732 JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:1,325,368...1,349,616 JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:891,212...897,743
Ensembl chrNW_004624746:893,952...897,762 		JBrowse link
G Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:781,833...786,163
Ensembl chrNW_004624746:781,833...786,131 		JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:923,734...964,965
Ensembl chrNW_004624746:919,636...960,533 		JBrowse link
G Zcchc14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:3,096,644...3,138,825
Ensembl chrNW_004624746:3,097,565...3,138,799 		JBrowse link
G Zfpm1 zinc finger protein, FOG family member 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:988,114...1,035,697
Ensembl chrNW_004624746:988,512...1,017,652 		JBrowse link
G Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004624746:1,043,117...1,074,776 JBrowse link
1q24 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:3,160,528...3,280,860
Ensembl chrNW_004624771:3,160,224...3,278,787 		JBrowse link
G Acbd6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:572,664...797,826
Ensembl chrNW_004624771:569,277...797,718 		JBrowse link
G Angptl1 angiopoietin like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:3,465,761...3,486,141
Ensembl chrNW_004624771:3,466,155...3,486,436 		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 chrNW_004624771:8,137,031...8,172,876
Ensembl chrNW_004624771:8,136,965...8,172,951 		JBrowse link
G Astn1 astrotactin 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:5,027,422...5,384,023
Ensembl chrNW_004624771:5,027,442...5,315,460 		JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624826:7,058,046...7,076,919
Ensembl chrNW_004624826:7,054,371...7,076,919 		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 chrNW_004624771:2,824,853...2,985,997 JBrowse link
G Blzf1 basic leucine zipper nuclear factor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624826:7,300,216...7,327,081 JBrowse link
G Brinp2 BMP/retinoic acid inducible neural specific 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:4,926,187...5,021,454
Ensembl chrNW_004624771:4,924,750...4,972,097 		JBrowse link
G Cacna1e calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:1,554,875...2,047,597
Ensembl chrNW_004624771:1,733,215...2,039,784 		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 chrNW_004624771:6,982,248...6,993,661
Ensembl chrNW_004624771:6,982,255...6,993,867 		JBrowse link
G Ccdc181 coiled-coil domain containing 181 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624826:7,333,323...7,352,165
Ensembl chrNW_004624826:7,333,493...7,348,842 		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 chrNW_004624771:8,034,225...8,051,451
Ensembl chrNW_004624771:8,036,701...8,051,998 		JBrowse link
G Cep350 centrosomal protein 350 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:231,574...404,091
Ensembl chrNW_004624771:231,568...404,424 		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 chrNW_004624771:5,922,086...6,132,537
Ensembl chrNW_004624771:5,922,067...6,133,597 		JBrowse link
G CUNH1orf105 chromosome unknown C1orf105 homolog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624771:9,195,036...9,228,238 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 chrNW_004624771:8,003,208...8,033,981
Ensembl chrNW_004624771:8,003,295...8,034,043 		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 chrNW_004624814:10,863,079...10,923,842
Ensembl chrNW_004624814:10,863,337...10,921,075 		JBrowse link
G Dnm3 dynamin 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624771:9,247,463...9,838,276
Ensembl chrNW_004624771:9,247,218...9,838,254 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624826:7,438,632...7,507,322
Ensembl chrNW_004624826:7,438,682...7,507,012 		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 chrNW_004624771:1,090...128,402
Ensembl chrNW_004624771:118,268...128,501 		JBrowse link
G Fam20b FAM20B glycosaminoglycan xylosylkinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:3,305,502...3,345,579
Ensembl chrNW_004624771:3,304,709...3,345,525 		JBrowse link
G Faslg Fas ligand ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825 		JBrowse link
G Firrm FIGNL1 interacting regulator of recombination and mitosis ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624826:7,704,256...7,749,222
Ensembl chrNW_004624826:7,703,798...7,749,091 		JBrowse link
G Fmo1 flavin containing dimethylaniline monoxygenase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624771:10,358,422...10,386,015
Ensembl chrNW_004624771:10,357,210...10,386,005 		JBrowse link
G Fmo2 flavin containing dimethylaniline monoxygenase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624771:10,391,267...10,422,314
Ensembl chrNW_004624771:10,390,472...10,422,524 		JBrowse link
G Glul glutamate-ammonia ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:2,608,779...2,618,130 JBrowse link
G Gorab golgin, RAB6 interacting ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624826:8,230,545...8,250,519
Ensembl chrNW_004624826:8,230,740...8,250,918 		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 chrNW_004624771:7,460,199...7,467,519
Ensembl chrNW_004624771:7,463,809...7,467,044 		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 chrNW_004624771:1,318,097...1,320,394
Ensembl chrNW_004624771:1,318,498...1,319,418 		JBrowse link
G Kiaa0040 KIAA0040 ortholog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004624771:6,826,430...6,864,238
Ensembl chrNW_004624771:6,826,573...6,864,188 		JBrowse link
G Kiaa1614 KIAA1614 ortholog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:1,183,650...1,243,884
Ensembl chrNW_004624771:1,183,645...1,221,983 		JBrowse link
G Kifap3 kinesin associated protein 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:10,381,217...10,521,349
Ensembl chrNW_004624805:10,416,095...10,504,234 		JBrowse link
G Klhl20 kelch like family member 20 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004624771:8,068,522...8,117,329 JBrowse link
G Lamc1 laminin subunit gamma 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624814:10,572,026...10,701,805
Ensembl chrNW_004624814:10,570,356...10,701,977 		JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624814:10,475,629...10,536,694
Ensembl chrNW_004624814:10,476,323...10,536,724 		JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:534,211...559,197
Ensembl chrNW_004624771:517,110...557,150 		JBrowse link
G LOC101700189 major histocompatibility complex class I-related gene protein ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:1,275,364...1,298,967
Ensembl chrNW_004624771:1,275,302...1,293,552 		JBrowse link
G Mettl13 methyltransferase 13, eEF1A N-terminus and K55 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624771:9,842,545...9,901,846
Ensembl chrNW_004624771:9,887,876...9,901,799 		JBrowse link
G Mettl18 methyltransferase 18, RPL3 N3(tau)-histidine ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624826:7,701,043...7,704,251
Ensembl chrNW_004624826:7,701,093...7,702,214 		JBrowse link
G Mroh9 maestro heat like repeat family member 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:943,386...1,024,497
Ensembl chrNW_004624747:943,130...1,025,061 		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 chrNW_004624771:6,975,680...6,978,290
Ensembl chrNW_004624771:6,975,673...6,978,290 		JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624771:10,066,170...10,080,257
Ensembl chrNW_004624771:10,065,788...10,080,680 		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 chrNW_004624814:10,107,351...10,134,737
Ensembl chrNW_004624814:10,107,357...10,134,711 		JBrowse link
G Nme7 NME/NM23 family member 7 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624826:7,077,885...7,300,398
Ensembl chrNW_004624826:7,078,140...7,258,997 		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 chrNW_004624814:10,288,746...10,470,476
Ensembl chrNW_004624814:10,293,074...10,466,691 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:2,828,758...2,847,995
Ensembl chrNW_004624771:2,828,104...2,849,254 		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 chrNW_004624814:10,968,218...11,006,637
Ensembl chrNW_004624814:10,968,329...10,994,001 		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 chrNW_004624826:7,938,688...7,948,369 JBrowse link
G Pappa2 pappalysin 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:5,332,013...5,598,678
Ensembl chrNW_004624771:5,331,793...5,596,752 		JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624771:9,234,218...9,236,991
Ensembl chrNW_004624771:9,234,242...9,236,987 		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 chrNW_004624771:8,282,622...8,293,799
Ensembl chrNW_004624771:8,282,062...8,294,340 		JBrowse link
G Prrc2c proline rich coiled-coil 2C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624771:10,098,536...10,183,409
Ensembl chrNW_004624771:10,100,209...10,183,971 		JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624826:8,361,039...8,435,488
Ensembl chrNW_004624826:8,361,033...8,435,656 		JBrowse link
G Qsox1 quiescin sulfhydryl oxidase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:449,761...490,372
Ensembl chrNW_004624771:449,992...489,693 		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 chrNW_004624771:6,999,341...7,738,571
Ensembl chrNW_004624771:7,004,468...7,738,646 		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 chrNW_004624771:3,425,210...3,573,022
Ensembl chrNW_004624771:3,430,226...3,573,003 		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 chrNW_004624771:3,791,337...4,125,982
Ensembl chrNW_004624771:3,797,187...4,126,379 		JBrowse link
G Rc3h1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004624771:7,837,547...7,948,217 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 chrNW_004624814:11,249,448...11,254,728
Ensembl chrNW_004624814:11,249,335...11,255,113 		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 chrNW_004624814:11,176,559...11,208,684
Ensembl chrNW_004624814:11,177,025...11,208,790 		JBrowse link
G Rnasel ribonuclease L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624814:11,268,725...11,319,023
Ensembl chrNW_004624814:11,268,698...11,305,221 		JBrowse link
G Scyl3 SCY1 like pseudokinase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624826:7,748,995...7,783,157
Ensembl chrNW_004624826:7,749,332...7,779,145 		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 chrNW_004624771:4,200,427...4,274,020
Ensembl chrNW_004624771:4,238,976...4,274,582 		JBrowse link
G Sele selectin E ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624826:7,624,852...7,635,330
Ensembl chrNW_004624826:7,626,380...7,635,309 		JBrowse link
G Sell selectin L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624826:7,590,576...7,612,370
Ensembl chrNW_004624826:7,587,970...7,610,163 		JBrowse link
G Selp selectin P ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624826:7,510,039...7,544,332
Ensembl chrNW_004624826:7,511,646...7,537,924 		JBrowse link
G Serpinc1 serpin family C member 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004624771:7,955,778...7,966,637
Ensembl chrNW_004624771:7,955,739...7,966,637 		JBrowse link
G Shcbp1l SHC binding and spindle associated 1 like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624814:10,773,376...10,810,716
Ensembl chrNW_004624814:10,773,416...10,810,634 		JBrowse link
G Slc19a2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624826:7,382,158...7,400,702
Ensembl chrNW_004624826:7,380,827...7,400,665 		JBrowse link
G Slc9c2 solute carrier family 9 member C2 (putative) ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004624771:8,175,164...8,268,303
Ensembl chrNW_004624771:8,187,118...8,268,333 		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 chrNW_004624814:10,135,733...10,224,991
Ensembl chrNW_004624814:10,137,548...10,224,825 		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 chrNW_004624771:2,992,752...3,055,842
Ensembl chrNW_004624771:2,994,696...3,055,916 		JBrowse link
G Stx6 syntaxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:1,222,809...1,264,662
Ensembl chrNW_004624771:1,227,052...1,265,158 		JBrowse link
G Suco SUN domain containing ossification factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624771:9,094,893...9,168,989
Ensembl chrNW_004624771:9,096,453...9,168,731 		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 chrNW_004624771:2,711,791...2,818,031 JBrowse link
G Teddm1 transmembrane epididymal protein 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:2,627,371...2,628,313
Ensembl chrNW_004624771:2,627,371...2,628,271 		JBrowse link
G Tex35 testis expressed 35 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:3,746,509...3,765,330
Ensembl chrNW_004624771:3,750,998...3,765,861 		JBrowse link
G Tnfsf18 TNF superfamily member 18 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004624771:8,711,093...8,722,518
Ensembl chrNW_004624771:8,711,017...8,722,539 		JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004624771:8,580,489...8,599,735 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 chrNW_004624771:6,872,134...6,933,419
Ensembl chrNW_004624771:6,872,964...6,932,920 		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 chrNW_004624771:6,291,202...6,725,737
Ensembl chrNW_004624771:6,519,091...6,717,947 		JBrowse link
G Tor1aip1 torsin 1A interacting protein 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:172,429...202,427
Ensembl chrNW_004624771:172,666...200,893 		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 chrNW_004624771:3,287,905...3,301,374
Ensembl chrNW_004624771:3,284,630...3,301,308 		JBrowse link
G Vamp4 vesicle associated membrane protein 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624771:9,986,835...10,034,112 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 chrNW_004624771:941,835...1,147,314
Ensembl chrNW_004624771:942,036...1,141,286 		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 chrNW_004624771:7,958,343...7,995,351
Ensembl chrNW_004624771:7,980,922...7,995,017 		JBrowse link
G Znf648 zinc finger protein 648 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004624771:2,301,541...2,303,327 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 chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741 		JBrowse link
G Six1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chrNW_004624734:40,453,445...40,457,551
Ensembl chrNW_004624734:40,453,420...40,459,671 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO RGD PMID:16452092 RGD:155663362 NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098 		JBrowse link
3p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd28 ankyrin repeat domain 28 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624821:964,162...1,155,437
Ensembl chrNW_004624821:965,854...1,155,128 		JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624821:926,159...948,331
Ensembl chrNW_004624821:926,310...949,065 		JBrowse link
G Capn7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624822:4,896,055...4,947,514 JBrowse link
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624872:1,176,317...1,193,344
Ensembl chrNW_004624872:1,176,568...1,193,192 		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 chrNW_004624872:1,481,149...1,488,992
Ensembl chrNW_004624872:1,481,319...1,488,097 		JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624822:5,162,989...5,222,140
Ensembl chrNW_004624822:5,163,506...5,222,134 		JBrowse link
G CUNH3orf20 chromosome unknown C3orf20 homolog ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624872:1,125,842...1,173,648
Ensembl chrNW_004624872:1,128,706...1,165,688 		JBrowse link
G Dazl deleted in azoospermia like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624821:1,836,632...1,854,048 JBrowse link
G Dph3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624821:1,494,321...1,500,911
Ensembl chrNW_004624821:1,496,565...1,500,896 		JBrowse link
G Eaf1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624822:5,240,423...5,253,762
Ensembl chrNW_004624822:5,239,964...5,253,810 		JBrowse link
G Efhb EF-hand domain family member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624821:5,215,680...5,269,500
Ensembl chrNW_004624821:5,216,624...5,269,433 		JBrowse link
G Fbln2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624796:12,570,112...12,637,019
Ensembl chrNW_004624796:12,570,139...12,636,987 		JBrowse link
G Fgd5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624872:1,037,607...1,103,617
Ensembl chrNW_004624872:1,034,782...1,103,655 		JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624821:1,409,140...1,454,905
Ensembl chrNW_004624821:1,409,105...1,454,974 		JBrowse link
G Grip2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624872:1,215,698...1,264,723
Ensembl chrNW_004624872:1,233,797...1,264,722 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624822:5,078,925...5,189,253
Ensembl chrNW_004624822:5,079,634...5,145,503 		JBrowse link
G Hdac11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624796:12,666,544...12,683,223
Ensembl chrNW_004624796:12,666,403...12,683,003 		JBrowse link
G Kat2b lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624821:5,387,212...5,489,013 JBrowse link
G Kcnh8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624821:4,475,305...4,831,444
Ensembl chrNW_004624821:4,475,250...4,832,194 		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 chrNW_004624872:1,428,885...1,438,633
Ensembl chrNW_004624872:1,428,073...1,438,563 		JBrowse link
G Mettl6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624822:5,253,659...5,349,292
Ensembl chrNW_004624822:5,254,938...5,282,742 		JBrowse link
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624872:948,073...950,899 JBrowse link
G Nr2c2 nuclear receptor subfamily 2 group C member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624872:953,428...1,028,738
Ensembl chrNW_004624872:953,097...981,974 		JBrowse link
G Nup210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624796:12,725,808...12,825,793
Ensembl chrNW_004624796:12,725,798...12,826,207 		JBrowse link
G Oxnad1 oxidoreductase NAD binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624821:1,500,963...1,539,702
Ensembl chrNW_004624821:1,505,476...1,539,548 		JBrowse link
G Plcl2 phospholipase C like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624821:2,132,075...2,316,624
Ensembl chrNW_004624821:2,131,851...2,315,934 		JBrowse link
G Pp2d1 protein phosphatase 2C like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624821:5,312,974...5,338,156
Ensembl chrNW_004624821:5,313,217...5,335,169 		JBrowse link
G Rab5a RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624821:5,271,246...5,311,469 JBrowse link
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624872:915,303...939,580
Ensembl chrNW_004624872:915,300...938,702 		JBrowse link
G Rftn1 raftlin, lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624821:1,561,845...1,763,654
Ensembl chrNW_004624821:1,562,778...1,751,345 		JBrowse link
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624821:3,723,609...3,820,921
Ensembl chrNW_004624821:3,726,355...3,800,497 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chrNW_004624731:4,098,137...4,170,889
Ensembl chrNW_004624731:4,098,091...4,172,555 		JBrowse link
G Sh3bp5 SH3 domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624822:4,950,735...5,021,233
Ensembl chrNW_004624822:4,950,735...5,021,337 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624872:1,266,240...1,318,710
Ensembl chrNW_004624872:1,266,007...1,310,361 		JBrowse link
G Tbc1d5 TBC1 domain family member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624821:2,398,211...3,068,212
Ensembl chrNW_004624821:2,398,042...2,806,263 		JBrowse link
G Thumpd3 THUMP domain 3 tRNA guanosine methyltransferase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chrNW_004624731:4,052,618...4,078,639
Ensembl chrNW_004624731:4,052,631...4,077,486 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624872:1,467,531...1,481,057
Ensembl chrNW_004624872:1,467,440...1,481,044 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624796:12,431,310...12,472,303
Ensembl chrNW_004624796:12,431,959...12,472,303 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004624872:1,438,673...1,467,206
Ensembl chrNW_004624872:1,438,769...1,466,642 		JBrowse link
46,XY sex reversal 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: 46,XY sex reversal 10 OMIM
ClinVar		 PMID:6620326 PMID:22051515 PMID:25604083 NCBI chrNW_004624801:2,296,353...2,300,853
Ensembl chrNW_004624801:2,296,168...2,301,596 		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 chrNW_004624736:5,525,417...5,641,612
Ensembl chrNW_004624736:5,525,408...5,645,636 		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 chrNW_004624771:15,425,610...15,432,012
Ensembl chrNW_004624771:15,425,604...15,430,542 		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 ISO OMIM:612242 MouseDO NCBI chrNW_004624841:218,642...304,744
Ensembl chrNW_004624841:219,133...265,397 		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 chrNW_004624766:20,343,776...20,536,627
Ensembl chrNW_004624766:20,343,803...20,531,873 		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 chrNW_004624766:20,536,581...20,554,589
Ensembl chrNW_004624766:20,536,233...20,554,759 		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 chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202 		JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:23,478,263...23,488,834
Ensembl chrNW_004624751:23,478,096...23,483,521 		JBrowse link
G Alg11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:2,103,233...2,112,538
Ensembl chrNW_004624748:2,104,973...2,112,296 		JBrowse link
G Arl11 ARF like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:5,023,391...5,025,389
Ensembl chrNW_004624748:5,023,391...5,025,131 		JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:2,112,574...2,183,994
Ensembl chrNW_004624748:2,113,094...2,205,856 		JBrowse link
G Bora BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:27,788,754...27,814,986
Ensembl chrNW_004624751:27,789,093...27,815,445 		JBrowse link
G Cab39l calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:5,238,235...5,408,654
Ensembl chrNW_004624748:5,252,994...5,411,002 		JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:2,280,183...2,283,892
Ensembl chrNW_004624748:2,280,239...2,280,880 		JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:5,420,395...5,467,215
Ensembl chrNW_004624748:5,426,215...5,467,082 		JBrowse link
G Cln5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:23,395,284...23,404,798
Ensembl chrNW_004624751:23,396,789...23,404,906 		JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:14,166,514...14,191,941
Ensembl chrNW_004624748:14,165,842...14,192,764 		JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:24,951,408...24,958,893 JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:6,040,564...6,043,454 JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:28,702,797...29,080,751
Ensembl chrNW_004624751:28,703,108...29,080,750 		JBrowse link
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:20,937,242...21,439,554
Ensembl chrNW_004624748:21,045,085...21,383,605 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:27,760,665...27,786,403
Ensembl chrNW_004624751:27,760,776...27,785,613 		JBrowse link
G Dleu7 deleted in lymphocytic leukemia 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:3,448,977...3,479,958
Ensembl chrNW_004624748:3,449,405...3,469,197 		JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:4,967,611...5,000,156
Ensembl chrNW_004624748:4,967,698...5,000,728 		JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:22,459,613...22,491,409
Ensembl chrNW_004624751:22,459,584...22,491,606 		JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:2,964,460...3,016,835
Ensembl chrNW_004624748:2,962,022...3,016,880 		JBrowse link
G Fbxl3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:23,374,622...23,391,535
Ensembl chrNW_004624751:23,374,702...23,398,727 		JBrowse link
G Fndc3a fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:5,503,053...5,716,734
Ensembl chrNW_004624748:5,501,411...5,716,737 		JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:2,748,012...2,832,822
Ensembl chrNW_004624748:2,747,917...2,836,488 		JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:6,598,986...6,622,679
Ensembl chrNW_004624748:6,598,984...6,622,796 		JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:4,674,722...4,683,255 JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:23,574,254...23,580,266
Ensembl chrNW_004624751:23,574,456...23,575,433 		JBrowse link
G Klf12 KLF transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:26,363,475...26,807,430
Ensembl chrNW_004624751:26,508,490...26,798,125 		JBrowse link
G Klf5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:27,488,434...27,509,871
Ensembl chrNW_004624751:27,489,535...27,505,494 		JBrowse link
G Klhl1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:30,948,092...31,387,128
Ensembl chrNW_004624748:30,948,029...31,387,128 		JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:4,902,570...4,961,191
Ensembl chrNW_004624748:4,902,484...4,961,186 		JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:24,636,636...24,855,515
Ensembl chrNW_004624751:24,637,354...24,855,450 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:6,423,170...6,425,149
Ensembl chrNW_004624748:6,423,861...6,424,892 		JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:6,770,231...6,790,385 JBrowse link
G Mlnr motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:5,490,474...5,493,262
Ensembl chrNW_004624748:5,491,102...5,493,179 		JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:23,048,373...23,355,510
Ensembl chrNW_004624751:23,048,404...23,355,510 		JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:27,815,065...27,851,738
Ensembl chrNW_004624751:27,814,973...27,832,343 		JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:20,864,457...20,931,124
Ensembl chrNW_004624751:20,866,834...20,931,140 		JBrowse link
G Nek3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:1,939,806...1,976,484
Ensembl chrNW_004624748:1,944,152...1,977,187 		JBrowse link
G Nek5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:1,977,294...2,069,211
Ensembl chrNW_004624748:1,979,634...2,054,174 		JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:6,807,667...6,824,477
Ensembl chrNW_004624748:6,804,740...6,823,757 		JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:21,752,339...21,803,387
Ensembl chrNW_004624751:21,752,270...21,803,930 		JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:14,394,961...14,515,850
Ensembl chrNW_004624748:14,494,619...14,516,015 		JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:18,958,250...19,056,278
Ensembl chrNW_004624748:18,958,276...19,054,381 		JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:22,680,984...22,686,488
Ensembl chrNW_004624748:22,678,713...22,686,742 		JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:14,285,553...14,290,236
Ensembl chrNW_004624748:14,285,475...14,290,166 		JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:27,604,426...28,543,256
Ensembl chrNW_004624748:27,606,224...28,543,269 		JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:27,543,768...27,760,536
Ensembl chrNW_004624751:27,543,702...27,759,271 		JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:21,812,567...21,817,837
Ensembl chrNW_004624751:21,812,850...21,814,747 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249 		JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:21,027,984...21,122,153
Ensembl chrNW_004624751:21,028,021...21,119,329 		JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:5,097,274...5,147,014
Ensembl chrNW_004624748:5,097,982...5,147,011 		JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:6,305,821...6,355,511
Ensembl chrNW_004624748:6,311,636...6,355,591 		JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:3,246,707...3,339,443 JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:22,710,932...22,808,109
Ensembl chrNW_004624751:22,712,795...22,792,581 		JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:2,833,748...2,860,303 JBrowse link
G Slain1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:22,609,259...22,674,805
Ensembl chrNW_004624751:22,608,843...22,674,805 		JBrowse link
G Slitrk1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:16,635,950...16,638,771
Ensembl chrNW_004624751:16,636,183...16,638,273 		JBrowse link
G Slitrk6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624779:7,030,017...7,036,581
Ensembl chrNW_004624779:7,030,395...7,036,108 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:20,091,612...20,096,581
Ensembl chrNW_004624751:20,091,609...20,096,563 		JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:4,766,113...4,788,061 JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:6,848,785...6,923,831
Ensembl chrNW_004624748:6,848,804...6,923,478 		JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:14,094,685...14,132,304 JBrowse link
G Tbc1d4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:24,999,301...25,183,905
Ensembl chrNW_004624751:24,999,386...25,181,702 		JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:21,656,003...21,815,589 JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:1,843,361...1,875,748
Ensembl chrNW_004624748:1,846,249...1,875,156 		JBrowse link
G Trim13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:4,683,518...4,765,944 JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624751:24,882,580...24,940,301
Ensembl chrNW_004624751:24,882,705...24,940,105 		JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:1,880,542...1,908,541
Ensembl chrNW_004624748:1,881,411...1,908,505 		JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004624748:2,412,808...2,748,661
Ensembl chrNW_004624748:2,412,808...2,612,437 		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 chrNW_004624768:2,037,866...2,276,498
Ensembl chrNW_004624768:2,207,238...2,276,747 		JBrowse link
G Atp10a ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624896:361,277...482,074
Ensembl chrNW_004624896:361,936...482,072 		JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25205402 PMID:25741868 PMID:28505103 NCBI chrNW_004624740:10,339,411...11,463,292
Ensembl chrNW_004624740:10,341,274...10,367,075 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chrNW_004624768:908,907...1,024,953
Ensembl chrNW_004624768:909,099...1,024,902 		JBrowse link
G Cluh clustered mitochondria homolog ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624786:5,309,084...5,329,810
Ensembl chrNW_004624786:5,307,770...5,329,810 		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 chrNW_004624896:2,726,622...2,774,671
Ensembl chrNW_004624896:2,723,462...2,800,113 		JBrowse link
G Entrep2 endosomal transmembrane epsin interactor 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:2,277,807...2,718,747
Ensembl chrNW_004624768:2,280,847...2,718,747 		JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624896:1,267,077...1,337,038 JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624896:962,253...1,173,842
Ensembl chrNW_004624896:966,487...1,173,625 		JBrowse link
G Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624896:1,392,932...1,973,363 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 chrNW_004624768:613,396...618,222
Ensembl chrNW_004624768:613,243...618,303 		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 chrNW_004624768:680,983...683,113
Ensembl chrNW_004624768:681,665...683,296 		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 chrNW_004624768:579,607...581,302 JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:36901699 NCBI chrNW_004624896:2,638,161...2,684,524
Ensembl chrNW_004624896:2,637,891...2,683,078 		JBrowse link
G Nipa2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:36901699 NCBI chrNW_004624896:2,695,468...2,724,316
Ensembl chrNW_004624896:2,695,373...2,724,316 		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 chrNW_004624768:2,402,456...2,403,944 JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624896:2,163,043...2,432,016
Ensembl chrNW_004624896:2,163,468...2,415,432 		JBrowse link
G Otud7a OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chrNW_004624768:1,326,417...1,482,474
Ensembl chrNW_004624768:1,348,377...1,482,158 		JBrowse link
G Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624786:5,223,890...5,306,033
Ensembl chrNW_004624786:5,224,982...5,302,436 		JBrowse link
G Rap1gap2 RAP1 GTPase activating protein 2 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624786:5,377,752...5,616,476
Ensembl chrNW_004624786:5,399,714...5,616,476 		JBrowse link
G Snrpn small nuclear ribonucleoprotein polypeptide N ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624768:70,186...75,496
Ensembl chrNW_004624768:70,186...75,427 		JBrowse link
G Snurf SNRPN upstream open reading frame ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624768:75,354...93,705 JBrowse link
G Tjp1 tight junction protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:2,826,848...3,034,195
Ensembl chrNW_004624768:2,828,324...3,034,302 		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 chrNW_004624896:2,818,476...2,855,096
Ensembl chrNW_004624896:2,816,262...2,855,161 		JBrowse link
chromosome 15q13.3 microdeletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624768:908,907...1,024,953
Ensembl chrNW_004624768:909,099...1,024,902 		JBrowse link
G Fan1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:1,923,777...1,955,255 JBrowse link
G Klf13 KLF transcription factor 13 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:1,568,168...1,612,324
Ensembl chrNW_004624768:1,573,326...1,612,211 		JBrowse link
G Mtmr10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:1,880,930...1,923,685
Ensembl chrNW_004624768:1,881,210...1,923,685 		JBrowse link
G Otud7a OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:1,326,417...1,482,474
Ensembl chrNW_004624768:1,348,377...1,482,158 		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 chrNW_004624768:1,802,601...1,873,627
Ensembl chrNW_004624768:1,757,293...1,873,627 		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 chrNW_004624894:603,756...606,703
Ensembl chrNW_004624894:603,852...606,607 		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 chrNW_004624894:275,975...279,015
Ensembl chrNW_004624894:277,280...278,800 		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 chrNW_004624894:564,252...595,048
Ensembl chrNW_004624894:561,683...594,878 		JBrowse link
G Imp3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chrNW_004624894:536,850...538,000
Ensembl chrNW_004624894:537,362...537,916 		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 chrNW_004624894:287,889...298,217
Ensembl chrNW_004624894:288,001...298,088 		JBrowse link
G Neil1 nei like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chrNW_004624894:282,799...287,265
Ensembl chrNW_004624894:282,695...288,058 		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 chrNW_004624894:401,335...484,840
Ensembl chrNW_004624894:399,978...484,765 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome | ClinVar Annotator: match by term: SIN3A-related condition | ClinVar Annotator: match by term: SIN3A-related intellectual disability syndrome | ClinVar Annotator: match by term: Witteveen-kolk syndrome OMIM
ClinVar		 PMID:18755302 PMID:19557438 PMID:21681106 PMID:25741868 PMID:27399968 More... NCBI chrNW_004624894:300,027...388,397
Ensembl chrNW_004624894:301,082...362,683 		JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chrNW_004624894:487,110...529,775
Ensembl chrNW_004624894:490,892...506,295 		JBrowse link
G Snx33 sorting nexin 33 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chrNW_004624894:545,411...557,347
Ensembl chrNW_004624894:544,791...557,563 		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 chrNW_004624768:4,308,993...4,630,499
Ensembl chrNW_004624768:4,309,035...4,629,289 		JBrowse link
G Aldh1a3 aldehyde dehydrogenase 1 family member A3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:3,851,361...3,885,609
Ensembl chrNW_004624768:3,851,257...3,885,609 		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 chrNW_004624768:4,083,278...4,122,706
Ensembl chrNW_004624768:4,083,190...4,122,705 		JBrowse link
G Cers3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:4,150,680...4,287,741
Ensembl chrNW_004624768:4,151,925...4,288,195 		JBrowse link
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:3,567,770...3,628,360 JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809 		JBrowse link
G Lins1 lines homolog 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:4,122,981...4,143,202
Ensembl chrNW_004624768:4,134,796...4,145,137 		JBrowse link
G Lrrc28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:4,984,515...5,105,162
Ensembl chrNW_004624768:4,982,020...5,105,019 		JBrowse link
G Lrrk1 leucine rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:3,701,187...3,848,943
Ensembl chrNW_004624768:3,712,049...3,848,651 		JBrowse link
G Lysmd4 LysM domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:4,689,536...4,694,577
Ensembl chrNW_004624768:4,689,264...4,692,902 		JBrowse link
G Mef2a myocyte enhancer factor 2A ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:4,701,734...4,852,833
Ensembl chrNW_004624768:4,704,799...4,796,719 		JBrowse link
G Pgpep1l pyroglutamyl-peptidase I like ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:5,691,436...5,707,956 JBrowse link
G Synm synemin ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:5,193,075...5,219,015
Ensembl chrNW_004624768:5,195,707...5,219,047 		JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624768:5,105,356...5,191,422
Ensembl chrNW_004624768:5,106,818...5,190,993 		JBrowse link
chromosome 16p11.2 deletion syndrome, 220-kb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chrNW_004624782:12,867,404...12,883,685
Ensembl chrNW_004624782:12,867,230...12,883,685 		JBrowse link
G Atxn2l ataxin 2 like ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chrNW_004624782:12,920,255...12,934,084
Ensembl chrNW_004624782:12,920,666...12,934,082 		JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chrNW_004624782:12,844,148...12,850,770
Ensembl chrNW_004624782:12,845,432...12,850,576 		JBrowse link
G Lat linker for activation of T cells ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chrNW_004624782:12,795,104...12,799,496
Ensembl chrNW_004624782:12,795,104...12,799,410 		JBrowse link
G LOC101697399 sulfotransferase 1A1 ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chrNW_004624782:13,079,596...13,094,149 JBrowse link
G Nfatc2ip nuclear factor of activated T cells 2 interacting protein ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chrNW_004624782:12,814,214...12,826,233
Ensembl chrNW_004624782:12,817,110...12,826,309 		JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chrNW_004624782:12,856,701...12,867,414
Ensembl chrNW_004624782:12,855,583...12,867,411 		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 chrNW_004624782:12,888,818...12,897,773
Ensembl chrNW_004624782:12,888,817...12,897,707 		JBrowse link
G Spns1 SPNS lysolipid transporter 1, lysophospholipid ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chrNW_004624782:12,799,850...12,807,159
Ensembl chrNW_004624782:12,799,038...12,807,121 		JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chrNW_004624782:12,914,362...12,918,194
Ensembl chrNW_004624782:12,914,359...12,918,194 		JBrowse link
chromosome 16p11.2 deletion syndrome, 593-kb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624782:13,183,924...13,189,286 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 chrNW_004624782:13,308,756...13,312,247
Ensembl chrNW_004624782:13,308,715...13,312,664 		JBrowse link
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chrNW_004624782:12,867,404...12,883,685
Ensembl chrNW_004624782:12,867,230...12,883,685 		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 chrNW_004624782:12,920,255...12,934,084
Ensembl chrNW_004624782:12,920,666...12,934,082 		JBrowse link
G Bola2b bolA family member 2B ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624782:13,103,842...13,104,823 JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chrNW_004624782:12,844,148...12,850,770
Ensembl chrNW_004624782:12,845,432...12,850,576 		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 chrNW_004624782:13,339,398...13,345,748
Ensembl chrNW_004624782:13,339,399...13,342,702 		JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624782:13,106,416...13,111,394
Ensembl chrNW_004624782:13,105,153...13,111,357 		JBrowse link
G CUNH16orf54 chromosome unknown C16orf54 homolog ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624782:13,437,850...13,446,433 JBrowse link
G CUNH16orf92 chromosome unknown C16orf92 homolog ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624782:13,212,195...13,214,166 JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624782:13,217,553...13,221,763
Ensembl chrNW_004624782:13,217,736...13,221,457 		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 chrNW_004624782:13,158,514...13,164,090
Ensembl chrNW_004624782:13,158,975...13,164,070 		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 chrNW_004624782:13,230,555...13,233,643
Ensembl chrNW_004624782:13,231,008...13,233,418 		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 chrNW_004624782:13,221,557...13,230,495
Ensembl chrNW_004624782:13,221,557...13,230,415 		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 chrNW_004624782:13,400,119...13,413,074
Ensembl chrNW_004624782:13,399,567...13,412,936 		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 chrNW_004624782:12,795,104...12,799,496
Ensembl chrNW_004624782:12,795,104...12,799,410 		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 chrNW_004624782:13,150,824...13,158,327
Ensembl chrNW_004624782:13,152,039...13,159,113 		JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624782:13,395,273...13,398,250 JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624782:13,363,121...13,386,961
Ensembl chrNW_004624782:13,363,000...13,387,086 		JBrowse link
G Nfatc2ip nuclear factor of activated T cells 2 interacting protein ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chrNW_004624782:12,814,214...12,826,233
Ensembl chrNW_004624782:12,817,110...12,826,309 		JBrowse link
G Pagr1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624782:13,387,155...13,390,153
Ensembl chrNW_004624782:13,387,376...13,389,740 		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 chrNW_004624782:13,174,585...13,181,055
Ensembl chrNW_004624782:13,174,376...13,180,995 		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 chrNW_004624782:13,390,347...13,393,775 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 chrNW_004624782:12,856,701...12,867,414
Ensembl chrNW_004624782:12,855,583...12,867,411 		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 chrNW_004624782:13,312,864...13,332,507
Ensembl chrNW_004624782:13,312,751...13,333,435 		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 chrNW_004624782:12,888,818...12,897,773
Ensembl chrNW_004624782:12,888,817...12,897,707 		JBrowse link
G Slx1a SLX1 homolog A, structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624782:13,094,330...13,096,573 JBrowse link
G Spn sialophorin ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624782:13,471,083...13,483,712 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 chrNW_004624782:12,799,850...12,807,159
Ensembl chrNW_004624782:12,799,038...12,807,121 		JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624782:13,234,422...13,263,495
Ensembl chrNW_004624782:13,256,085...13,262,626
Ensembl chrNW_004624782:13,256,085...13,262,626 		JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624782:13,169,096...13,174,498
Ensembl chrNW_004624782:13,169,719...13,174,056 		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 chrNW_004624782:13,203,954...13,212,174
Ensembl chrNW_004624782:13,203,963...13,213,797 		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 chrNW_004624782:12,914,362...12,918,194
Ensembl chrNW_004624782:12,914,359...12,918,194 		JBrowse link
G Ypel3 yippee like 3 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624782:13,164,713...13,168,818
Ensembl chrNW_004624782:13,165,056...13,171,634 		JBrowse link
chromosome 16p12.1 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdr2 cerebellar degeneration related protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chrNW_004624782:7,711,940...7,743,092
Ensembl chrNW_004624782:7,711,801...7,737,574 		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 chrNW_004624782:7,606,576...7,668,771
Ensembl chrNW_004624782:7,606,655...7,666,206 		JBrowse link
G LOC101707508 cytochrome b-c1 complex subunit 2, mitochondrial ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chrNW_004624782:7,395,935...7,425,918 JBrowse link
G Mosmo modulator of smoothened ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chrNW_004624782:7,455,770...7,513,931 JBrowse link
G Pdzd9 PDZ domain containing 9 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chrNW_004624782:7,429,390...7,441,939
Ensembl chrNW_004624782:7,429,583...7,441,561 		JBrowse link
G Polr3e RNA polymerase III subunit E ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chrNW_004624782:7,673,172...7,701,591
Ensembl chrNW_004624782:7,673,451...7,702,007 		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 chrNW_004624782:7,577,918...7,593,084
Ensembl chrNW_004624782:7,576,994...7,593,084 		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 chrNW_004624782:7,520,666...7,573,675
Ensembl chrNW_004624782:7,522,234...7,575,087 		JBrowse link
chromosome 16q22 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acd ACD shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624746:18,688,898...18,692,216
Ensembl chrNW_004624746:18,689,364...18,695,944 		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 chrNW_004624746:18,692,179...18,704,952
Ensembl chrNW_004624746:18,692,225...18,704,476 		JBrowse link
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624746:18,705,017...18,760,345
Ensembl chrNW_004624746:18,706,663...18,760,203 		JBrowse link
G CUNH16orf86 chromosome unknown C16orf86 homolog ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624746:18,680,021...18,682,578
Ensembl chrNW_004624746:18,678,607...18,682,464 		JBrowse link
G Enkd1 enkurin domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624746:18,676,146...18,686,739
Ensembl chrNW_004624746:18,682,597...18,686,735 		JBrowse link
G Gfod2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624746:18,634,600...18,677,974
Ensembl chrNW_004624746:18,634,576...18,676,046 		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 chrNW_004624746:18,686,916...18,688,739
Ensembl chrNW_004624746:18,686,921...18,688,703 		JBrowse link
G Ranbp10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624746:18,558,660...18,629,132
Ensembl chrNW_004624746:18,558,468...18,629,824 		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 chrNW_004624849:2,129,154...2,317,640
Ensembl chrNW_004624849:2,129,357...2,319,538 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14961032 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		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 ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome ClinVar PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chrNW_004624875:221,206...231,178
Ensembl chrNW_004624875:220,771...232,394 		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 chrNW_004624871:3,966,323...4,078,970
Ensembl chrNW_004624871:3,965,985...4,079,281 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004624871:4,103,014...4,364,690
Ensembl chrNW_004624871:4,105,067...4,412,325 		JBrowse link
G CUNH17orf78 chromosome unknown C17orf78 homolog ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004624871:4,375,839...4,390,450 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 chrNW_004624871:4,596,313...4,622,634 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 chrNW_004624871:3,663,308...3,671,504
Ensembl chrNW_004624871:3,662,428...3,671,508 		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 chrNW_004624871:4,481,426...4,503,723
Ensembl chrNW_004624871:4,481,493...4,503,723 		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 chrNW_004624871:3,624,107...3,661,004
Ensembl chrNW_004624871:3,624,106...3,661,392 		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 chrNW_004624871:4,662,104...4,713,125
Ensembl chrNW_004624871:4,661,669...4,712,960 		JBrowse link
G Lhx1 LIM homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004624871:3,954,490...3,961,861
Ensembl chrNW_004624871:3,954,504...3,963,033 		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 chrNW_004624871:3,672,090...3,678,281
Ensembl chrNW_004624871:3,671,750...3,678,388 		JBrowse link
G Mrpl45 mitochondrial ribosomal protein L45 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chrNW_004624795:4,211,546...4,225,747
Ensembl chrNW_004624795:4,211,539...4,225,659 		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 chrNW_004624871:3,585,009...3,616,289
Ensembl chrNW_004624871:3,585,009...3,616,277 		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 chrNW_004624871:3,616,335...3,619,668
Ensembl chrNW_004624871:3,616,359...3,619,560 		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 chrNW_004624871:4,505,693...4,593,472
Ensembl chrNW_004624871:4,509,428...4,593,337 		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 chrNW_004624871:4,412,703...4,478,275
Ensembl chrNW_004624871:4,415,409...4,469,359 		JBrowse link
G Znhit3 zinc finger HIT-type containing 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004624871:3,573,030...3,585,012
Ensembl chrNW_004624871:3,576,939...3,585,018 		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 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 chrNW_004624892:2,110,310...2,148,023
Ensembl chrNW_004624892:2,117,561...2,148,037 		JBrowse link
chromosome 18p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:19,590,829...19,631,663
Ensembl chrNW_004624770:19,591,215...19,631,722 		JBrowse link
G Akain1 A-kinase anchor inhibitor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:14,886,494...14,951,763
Ensembl chrNW_004624770:14,888,182...14,928,821 		JBrowse link
G Ankrd12 ankyrin repeat domain 12 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:17,953,053...18,043,778
Ensembl chrNW_004624770:17,952,777...18,044,121 		JBrowse link
G Apcdd1 APC down-regulated 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:18,748,299...18,776,100
Ensembl chrNW_004624770:18,725,513...18,776,613 		JBrowse link
G Arhgap28 Rho GTPase activating protein 28 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:16,179,225...16,343,299
Ensembl chrNW_004624770:16,179,216...16,344,247 		JBrowse link
G Cep192 centrosomal protein 192 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:19,942,426...20,010,606 JBrowse link
G Cep76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:19,765,633...19,787,733
Ensembl chrNW_004624770:19,766,688...19,787,714 		JBrowse link
G Chmp1b charged multivesicular body protein 1B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:19,487,040...19,489,740 JBrowse link
G Cidea cell death inducing DFFA like effector a ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:19,559,735...19,573,394
Ensembl chrNW_004624770:19,559,692...19,573,788 		JBrowse link
G Dlgap1 DLG associated protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:13,543,893...13,841,213
Ensembl chrNW_004624770:13,542,680...13,841,352 		JBrowse link
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:13,133,319...13,156,420 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 chrNW_004624770:15,092,706...15,303,990
Ensembl chrNW_004624770:15,094,969...15,287,128 		JBrowse link
G Fam210a family with sequence similarity 210 member A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:20,290,086...20,312,506
Ensembl chrNW_004624770:20,290,086...20,300,310 		JBrowse link
G Gnal G protein subunit alpha L ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:19,433,614...19,504,759
Ensembl chrNW_004624770:19,433,660...19,504,698 		JBrowse link
G Impa2 inositol monophosphatase 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:19,526,796...19,549,113
Ensembl chrNW_004624770:19,526,446...19,548,386 		JBrowse link
G Lama1 laminin subunit alpha 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:16,358,952...16,490,986
Ensembl chrNW_004624770:16,359,255...16,462,817 		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 chrNW_004624770:20,137,979...20,269,714 JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:13,158,111...13,200,818
Ensembl chrNW_004624770:13,159,903...13,203,643 		JBrowse link
G Lrrc30 leucine rich repeat containing 30 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:16,571,858...16,573,510
Ensembl chrNW_004624770:16,571,982...16,572,887 		JBrowse link
G Mc2r melanocortin 2 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:20,431,571...20,476,405 JBrowse link
G Mppe1 metallophosphoesterase 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:19,504,774...19,526,710
Ensembl chrNW_004624770:19,505,326...19,526,750 		JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:17,702,793...17,788,861
Ensembl chrNW_004624770:17,703,586...17,788,192 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:13,378,668...13,408,633
Ensembl chrNW_004624770:13,393,106...13,409,139
Ensembl chrNW_004624770:13,393,106...13,409,139 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:13,239,572...13,356,041
Ensembl chrNW_004624770:13,239,723...13,355,954 		JBrowse link
G Napg NSF attachment protein gamma ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:18,795,141...18,814,643
Ensembl chrNW_004624770:18,795,106...18,814,723 		JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:17,925,250...17,950,754 JBrowse link
G Piezo2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:18,835,706...19,157,177
Ensembl chrNW_004624770:18,836,899...19,157,114 		JBrowse link
G Ppp4r1 protein phosphatase 4 regulatory subunit 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:18,150,135...18,206,835
Ensembl chrNW_004624770:18,150,135...18,206,898 		JBrowse link
G Prelid3a PRELI domain containing 3A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:19,638,982...19,647,734
Ensembl chrNW_004624770:19,638,991...19,646,517 		JBrowse link
G Psmg2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:19,787,876...19,802,623
Ensembl chrNW_004624770:19,788,057...19,802,422 		JBrowse link
G Ptpn2 protein tyrosine phosphatase non-receptor type 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:19,808,400...19,877,494
Ensembl chrNW_004624770:19,808,400...19,876,503 		JBrowse link
G Ptprm protein tyrosine phosphatase receptor type M ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:16,900,925...17,507,775
Ensembl chrNW_004624770:16,990,056...17,508,167 		JBrowse link
G Rab12 RAB12, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:17,636,031...17,654,863
Ensembl chrNW_004624770:17,635,901...17,653,919 		JBrowse link
G Rab31 RAB31, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:18,285,140...18,372,389
Ensembl chrNW_004624770:18,285,132...18,372,650 		JBrowse link
G Ralbp1 ralA binding protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:18,117,106...18,147,472
Ensembl chrNW_004624770:18,127,025...18,147,465 		JBrowse link
G Rnmt RNA guanine-7 methyltransferase ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:20,312,555...20,389,099 JBrowse link
G Seh1l SEH1 like nucleoporin ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:19,913,601...19,938,387 JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:13,000,532...13,123,346
Ensembl chrNW_004624770:13,000,316...13,124,031 		JBrowse link
G Spire1 spire type actin nucleation factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:19,652,842...19,756,581
Ensembl chrNW_004624770:19,653,848...19,745,067 		JBrowse link
G Tgif1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:13,506,501...13,515,388
Ensembl chrNW_004624770:13,508,409...13,516,457 		JBrowse link
G Tmem200c transmembrane protein 200C ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:15,512,059...15,515,584
Ensembl chrNW_004624770:15,512,843...15,514,623 		JBrowse link
G Tubb6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:19,580,623...19,590,617 JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:18,047,790...18,081,559
Ensembl chrNW_004624770:18,047,810...18,081,761 		JBrowse link
G Txndc2 thioredoxin domain containing 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:18,383,444...18,385,340 JBrowse link
G Vapa VAMP associated protein A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:18,411,921...18,447,004
Ensembl chrNW_004624770:18,411,789...18,447,009 		JBrowse link
G Zbtb14 zinc finger and BTB domain containing 14 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004624770:15,016,689...15,021,000
Ensembl chrNW_004624770:15,012,887...15,019,805 		JBrowse link
chromosome 18q deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:191,927...225,321
Ensembl chrNW_004624806:195,608...216,587 		JBrowse link
G Ankrd29 ankyrin repeat domain 29 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:8,527,081...8,585,678
Ensembl chrNW_004624770:8,527,140...8,583,154 		JBrowse link
G Aqp4 aquaporin 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:5,581,192...5,593,470
Ensembl chrNW_004624770:5,580,808...5,594,628 		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 chrNW_004624778:9,982,923...10,089,204
Ensembl chrNW_004624778:9,982,936...10,086,937 		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 chrNW_004624778:9,835,272...9,924,462
Ensembl chrNW_004624778:9,877,100...9,925,512 		JBrowse link
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:8,099,434...8,270,812
Ensembl chrNW_004624779:8,144,474...8,271,269 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624778:9,773,365...9,784,564
Ensembl chrNW_004624778:9,773,064...9,784,533 		JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:1,038,093...1,346,070
Ensembl chrNW_004624806:1,037,622...1,345,721 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:1,119,202...1,239,127
Ensembl chrNW_004624770:1,160,120...1,240,016 		JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G Cabyr calcium binding tyrosine phosphorylation regulated ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:8,055,008...8,079,925 JBrowse link
G Cbln2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:8,371,966...8,381,908
Ensembl chrNW_004624806:8,371,995...8,380,059 		JBrowse link
G Ccdc102b coiled-coil domain containing 102B ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624840:1,097,686...1,237,195 JBrowse link
G Ccdc178 coiled-coil domain containing 178 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:7,726,526...7,998,593 JBrowse link
G Cd226 CD226 molecule ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:11,324,239...11,390,487
Ensembl chrNW_004624806:11,324,344...11,388,206 		JBrowse link
G Cdh19 cadherin 19 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624792:12,633,803...12,752,267
Ensembl chrNW_004624792:12,635,240...12,752,439 		JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:4,333,643...4,540,817
Ensembl chrNW_004624770:4,334,202...4,545,470 		JBrowse link
G Cdh20 cadherin 20 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624792:6,903,439...7,158,708
Ensembl chrNW_004624792:6,902,931...7,159,514 		JBrowse link
G Cdh7 cadherin 7 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624792:11,836,034...11,963,545
Ensembl chrNW_004624792:11,849,046...11,958,461 		JBrowse link
G Celf4 CUGBP Elav-like family member 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:11,443,993...11,731,208
Ensembl chrNW_004624779:11,452,545...11,731,251 		JBrowse link
G Chst9 carbohydrate sulfotransferase 9 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:5,275,677...5,535,613
Ensembl chrNW_004624770:5,506,021...5,533,391 		JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:6,113,052...6,169,943
Ensembl chrNW_004624806:6,113,227...6,169,745 		JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:6,174,621...6,196,039
Ensembl chrNW_004624806:6,172,809...6,195,644 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:621,087...720,044
Ensembl chrNW_004624806:621,804...719,942 		JBrowse link
G Ctif cap binding complex dependent translation initiation factor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624778:12,085,856...12,371,623
Ensembl chrNW_004624778:12,085,702...12,371,721 		JBrowse link
G CUNH18orf21 chromosome unknown C18orf21 homolog ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:10,280,815...10,287,611
Ensembl chrNW_004624779:10,280,964...10,288,017 		JBrowse link
G CUNH18orf63 chromosome unknown C18orf63 homolog ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:6,350,054...6,384,940 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 chrNW_004624806:6,229,538...6,251,953 JBrowse link
G Dok6 docking protein 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624840:108,761...500,280
Ensembl chrNW_004624840:109,066...500,400 		JBrowse link
G Dsc1 desmocollin 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:1,709,920...1,743,005
Ensembl chrNW_004624770:1,710,170...1,740,454 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:1,748,561...1,778,566
Ensembl chrNW_004624770:1,748,276...1,781,117 		JBrowse link
G Dsc3 desmocollin 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:1,799,731...1,846,379
Ensembl chrNW_004624770:1,803,296...1,843,687 		JBrowse link
G Dsel dermatan sulfate epimerase like ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624792:13,671,150...13,677,777
Ensembl chrNW_004624792:13,671,194...13,677,449 		JBrowse link
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:1,514,978...1,551,437
Ensembl chrNW_004624770:1,517,027...1,542,322 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:1,315,021...1,363,472
Ensembl chrNW_004624770:1,313,916...1,364,153 		JBrowse link
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:1,384,847...1,416,833 JBrowse link
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:1,456,988...1,491,069
Ensembl chrNW_004624770:1,457,016...1,495,009 		JBrowse link
G Dtna dystrobrevin alpha ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:8,948,578...9,329,459
Ensembl chrNW_004624779:8,948,499...9,329,550 		JBrowse link
G Dym dymeclin ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624778:12,541,566...12,977,319
Ensembl chrNW_004624778:12,541,566...12,977,314 		JBrowse link
G Elp2 elongator acetyltransferase complex subunit 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:10,434,022...10,477,844
Ensembl chrNW_004624779:10,434,092...10,477,098 		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 chrNW_004624778:9,490,744...9,614,289
Ensembl chrNW_004624778:9,491,258...9,614,299 		JBrowse link
G Fbxo15 F-box protein 15 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:6,521,185...6,584,678
Ensembl chrNW_004624806:6,521,208...6,586,709 		JBrowse link
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:10,562,319...11,069,557
Ensembl chrNW_004624779:10,562,296...11,069,694 		JBrowse link
G Galnt1 polypeptide N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:9,952,387...10,044,273
Ensembl chrNW_004624779:9,958,974...10,044,284 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:3,331,025...3,347,774
Ensembl chrNW_004624806:3,334,325...3,347,087 		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 chrNW_004624770:501,113...727,736
Ensembl chrNW_004624770:500,641...728,014 		JBrowse link
G Haus1 HAUS augmin like complex subunit 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624778:9,784,623...9,799,204 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 chrNW_004624778:10,655,560...10,703,759
Ensembl chrNW_004624778:10,657,801...10,704,043 		JBrowse link
G Hrh4 histamine receptor H4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:7,792,321...7,795,303 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 chrNW_004624806:381,400...420,347 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 chrNW_004624778:10,707,363...10,724,822
Ensembl chrNW_004624778:10,705,916...10,739,006 		JBrowse link
G Impact impact RWD domain protein ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:7,808,225...7,839,844
Ensembl chrNW_004624770:7,805,855...7,839,756 		JBrowse link
G Ino80c INO80 complex subunit C ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:9,843,068...9,861,959
Ensembl chrNW_004624779:9,843,065...9,862,137 		JBrowse link
G Katnal2 katanin catalytic subunit A1 like 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624778:10,599,429...10,664,022
Ensembl chrNW_004624778:10,561,459...10,663,686 		JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:481,353...562,126
Ensembl chrNW_004624806:481,353...561,508 		JBrowse link
G Kctd1 potassium channel tetramerization domain containing 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:5,775,317...5,967,929
Ensembl chrNW_004624770:5,775,458...5,968,699 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624792:9,038,076...9,081,650
Ensembl chrNW_004624792:9,040,999...9,082,154 		JBrowse link
G Kiaa1328 KIAA1328 ortholog ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:11,107,359...11,428,028 JBrowse link
G Klhl14 kelch like family member 14 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:203,962...296,837
Ensembl chrNW_004624770:203,374...297,378 		JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:8,237,085...8,482,770 JBrowse link
G LOC101711375 cytochrome b5 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:6,399,708...6,434,667
Ensembl chrNW_004624806:6,399,460...6,436,735 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624778:10,106,009...10,282,085
Ensembl chrNW_004624778:10,106,975...10,282,085 		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 chrNW_004624779:9,405,794...9,585,749 JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:3,465,881...3,587,428
Ensembl chrNW_004624806:3,489,681...3,588,335 		JBrowse link
G Mc4r melanocortin 4 receptor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 NCBI chrNW_004624792:5,865,902...5,867,498
Ensembl chrNW_004624792:5,866,119...5,867,120 		JBrowse link
G Mep1b meprin A subunit beta ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:757,626...806,289
Ensembl chrNW_004624770:757,711...806,330 		JBrowse link
G Mocos molybdenum cofactor sulfurase ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:10,500,696...10,547,452
Ensembl chrNW_004624779:10,500,772...10,545,503 		JBrowse link
G Neto1 neuropilin and tolloid like 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:8,013,955...8,128,867
Ensembl chrNW_004624806:8,014,353...8,127,078 		JBrowse link
G Nfatc1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:905,487...1,022,784
Ensembl chrNW_004624806:905,174...1,022,800 		JBrowse link
G Nol4 nucleolar protein 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:8,359,844...8,687,368
Ensembl chrNW_004624779:8,359,584...8,685,781 		JBrowse link
G Osbpl1a oxysterol binding protein like 1A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:7,855,776...8,054,886
Ensembl chrNW_004624770:7,864,036...8,054,881 		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 chrNW_004624806:95,478...182,374
Ensembl chrNW_004624806:95,448...182,925 		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 chrNW_004624792:8,448,245...8,680,845
Ensembl chrNW_004624792:8,448,013...8,681,053 		JBrowse link
G Pias2 protein inhibitor of activated STAT 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624778:10,426,788...10,530,854
Ensembl chrNW_004624778:10,434,550...10,530,766 		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 chrNW_004624792:7,713,042...7,916,177
Ensembl chrNW_004624792:7,712,113...7,916,160 		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 chrNW_004624779:16,307,875...16,435,567
Ensembl chrNW_004624779:16,307,800...16,434,169 		JBrowse link
G Psma8 proteasome 20S subunit alpha 8 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:6,183,774...6,235,885
Ensembl chrNW_004624770:6,185,767...6,236,505 		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 chrNW_004624778:9,629,841...9,761,005
Ensembl chrNW_004624778:9,628,340...9,760,963 		JBrowse link
G Ptgr3 prostaglandin reductase 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:5,465,755...5,476,891
Ensembl chrNW_004624806:5,465,370...5,476,260 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:336,976...350,478
Ensembl chrNW_004624806:332,759...351,246 		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 chrNW_004624792:7,916,354...8,012,976
Ensembl chrNW_004624792:7,916,395...8,014,167 		JBrowse link
G Rit2 Ras like without CAAX 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:17,128,640...17,467,505
Ensembl chrNW_004624779:17,128,075...17,467,817 		JBrowse link
G Rnf125 ring finger protein 125 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:909,808...942,386 JBrowse link
G Rnf138 ring finger protein 138 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:858,081...895,361
Ensembl chrNW_004624770:860,391...895,039 		JBrowse link
G Rnf152 ring finger protein 152 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624792:7,448,110...7,571,467
Ensembl chrNW_004624792:7,448,112...7,536,776 		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 chrNW_004624779:10,299,378...10,371,213
Ensembl chrNW_004624779:10,301,878...10,371,184 		JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:11,058,138...11,266,639
Ensembl chrNW_004624806:11,058,880...11,266,289 		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 chrNW_004624806:1,432,771...1,454,794
Ensembl chrNW_004624806:1,435,617...1,454,779 		JBrowse link
G Serpinb11 serpin family B member 11 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624792:9,679,310...9,712,474
Ensembl chrNW_004624792:9,679,211...9,712,970 		JBrowse link
G Serpinb12 serpin family B member 12 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624792:9,326,061...9,344,870
Ensembl chrNW_004624792:9,326,066...9,343,959 		JBrowse link
G Serpinb13 serpin family B member 13 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624792:9,388,994...9,406,618
Ensembl chrNW_004624792:9,391,297...9,406,424 		JBrowse link
G Serpinb5 serpin family B member 5 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624792:9,196,932...9,220,147
Ensembl chrNW_004624792:9,198,657...9,221,264 		JBrowse link
G Serpinb7 serpin family B member 7 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624792:9,730,223...9,794,673 JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624778:8,444,681...8,800,595
Ensembl chrNW_004624778:8,465,462...8,800,815 		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 chrNW_004624778:9,472,529...9,487,973 JBrowse link
G Skor2 SKI family transcriptional corepressor 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624778:10,757,829...10,807,277
Ensembl chrNW_004624778:10,758,013...10,809,789 		JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624778:9,397,773...9,419,604
Ensembl chrNW_004624778:9,403,405...9,419,841 		JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624778:8,943,209...9,379,942
Ensembl chrNW_004624778:9,330,064...9,379,942 		JBrowse link
G Slc39a6 solute carrier family 39 member 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:10,400,581...10,433,405
Ensembl chrNW_004624779:10,399,198...10,432,869 		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 chrNW_004624806:440,001...479,191
Ensembl chrNW_004624806:439,613...479,191 		JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624778:11,380,656...11,460,566
Ensembl chrNW_004624778:11,384,769...11,501,078 		JBrowse link
G Smad7 SMAD family member 7 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624778:12,415,364...12,444,882
Ensembl chrNW_004624778:12,415,282...12,444,835 		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 chrNW_004624806:10,921,204...10,949,108 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 chrNW_004624770:6,256,397...6,338,047
Ensembl chrNW_004624770:6,256,120...6,339,257 		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 chrNW_004624778:10,293,685...10,390,340
Ensembl chrNW_004624778:10,305,450...10,389,625 		JBrowse link
G Syt4 synaptotagmin 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:17,593,760...17,603,217
Ensembl chrNW_004624779:17,592,669...17,603,403 		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 chrNW_004624770:5,955,159...6,163,060
Ensembl chrNW_004624770:6,031,028...6,162,937 		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 chrNW_004624806:6,509,711...6,520,687
Ensembl chrNW_004624806:6,510,998...6,520,496 		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 chrNW_004624840:1,314,514...1,361,073 JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11a ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624792:8,029,383...8,087,824
Ensembl chrNW_004624792:8,029,364...8,084,424 		JBrowse link
G Tpgs2 tubulin polyglutamylase complex subunit 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:11,070,741...11,107,349
Ensembl chrNW_004624779:11,049,815...11,107,459 		JBrowse link
G Trappc8 trafficking protein particle complex subunit 8 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:999,888...1,090,606
Ensembl chrNW_004624770:999,934...1,090,907 		JBrowse link
G Tshz1 teashirt zinc finger homeobox 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:5,389,464...5,463,222
Ensembl chrNW_004624806:5,389,387...5,463,240 		JBrowse link
G Ttc39c tetratricopeptide repeat domain 39C ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:8,086,597...8,189,139
Ensembl chrNW_004624770:8,086,749...8,189,701 		JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:1,255,401...1,262,019
Ensembl chrNW_004624770:1,251,716...1,262,213 		JBrowse link
G Txnl4a thioredoxin like 4A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:367,668...385,946
Ensembl chrNW_004624806:367,286...385,946 		JBrowse link
G Vps4b vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624792:9,098,291...9,128,931 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 chrNW_004624778:11,622,007...11,980,279
Ensembl chrNW_004624778:11,622,010...11,635,407 		JBrowse link
G Zcchc2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624792:8,239,931...8,298,508 JBrowse link
G Znf236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:3,609,783...3,750,471
Ensembl chrNW_004624806:3,611,795...3,731,918 		JBrowse link
G Znf24 zinc finger protein 24 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:9,727,764...9,739,442
Ensembl chrNW_004624779:9,732,615...9,739,497 		JBrowse link
G Znf396 zinc finger protein 396 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:9,748,970...9,757,170
Ensembl chrNW_004624779:9,750,890...9,757,184 		JBrowse link
G Znf397 zinc finger protein 397 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624779:9,669,198...9,721,794
Ensembl chrNW_004624779:9,668,423...9,674,709 		JBrowse link
G Znf407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:5,624,108...6,106,630
Ensembl chrNW_004624806:5,622,629...6,074,418 		JBrowse link
G Znf516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624806:4,103,811...4,223,294
Ensembl chrNW_004624806:4,153,663...4,213,110 		JBrowse link
G Znf521 zinc finger protein 521 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004624770:7,025,678...7,264,481
Ensembl chrNW_004624770:7,025,544...7,264,606 		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 chrNW_004624779:9,678,549...9,708,490
Ensembl chrNW_004624779:9,680,315...9,686,601 		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 chrNW_004624794:8,755,798...8,787,678
Ensembl chrNW_004624794:8,755,798...8,787,681 		JBrowse link
chromosome 1p36 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadacl3 arylacetamide deacetylase like 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:369,486...377,881
Ensembl chrNW_004624818:370,609...377,838 		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 chrNW_004624818:8,302,409...8,315,878
Ensembl chrNW_004624818:8,302,957...8,314,590 		JBrowse link
G Acot7 acyl-CoA thioesterase 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:5,048,410...5,142,135
Ensembl chrNW_004624818:5,065,995...5,142,558 		JBrowse link
G Actl8 actin like 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:3,163,610...3,220,919
Ensembl chrNW_004624764:3,201,899...3,221,161 		JBrowse link
G Actrt2 actin related protein T2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:7,288,206...7,289,499
Ensembl chrNW_004624818:7,288,304...7,289,434 		JBrowse link
G Agmat agmatinase (putative) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:1,839,667...1,853,344
Ensembl chrNW_004624764:1,843,227...1,853,350 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,475,453...8,508,818
Ensembl chrNW_004624818:8,476,562...8,508,786 		JBrowse link
G Agtrap angiotensin II receptor associated protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,226,876...1,239,975
Ensembl chrNW_004624818:1,228,175...1,240,059 		JBrowse link
G Ajap1 adherens junctions associated protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:6,214,846...6,318,347
Ensembl chrNW_004624818:6,214,907...6,318,333 		JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:4,051,999...4,081,954
Ensembl chrNW_004624764:4,051,178...4,082,142 		JBrowse link
G Angptl7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,620,741...1,626,704
Ensembl chrNW_004624818:1,619,790...1,626,474 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,217,922...8,221,907
Ensembl chrNW_004624818:8,219,101...8,221,907 		JBrowse link
G Arhgef10l Rho guanine nucleotide exchange factor 10 like ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,992,344...3,126,131
Ensembl chrNW_004624764:3,007,216...3,126,298 		JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:6,949,484...6,966,195
Ensembl chrNW_004624818:6,949,484...6,966,237 		JBrowse link
G Arhgef19 Rho guanine nucleotide exchange factor 19 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,325,151...2,339,161
Ensembl chrNW_004624764:2,325,151...2,348,631 		JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,614,541...2,631,972
Ensembl chrNW_004624764:2,614,827...2,631,793 		JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,246,636...8,248,002
Ensembl chrNW_004624818:8,246,646...8,248,005 		JBrowse link
G B3galt6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,360,321...8,361,975
Ensembl chrNW_004624818:8,360,849...8,361,817 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,347,292...8,352,160
Ensembl chrNW_004624818:8,348,758...8,352,150 		JBrowse link
G Ca6 carbonic anhydrase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:3,179,847...3,193,699
Ensembl chrNW_004624818:3,180,356...3,192,928 		JBrowse link
G Calml6 calmodulin like 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:7,920,401...7,921,517 JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:4,021,045...4,798,029
Ensembl chrNW_004624818:4,019,755...4,797,962 		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 chrNW_004624764:4,473,880...4,601,260
Ensembl chrNW_004624764:4,473,606...4,601,286 		JBrowse link
G Casp9 caspase 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:1,769,270...1,789,399
Ensembl chrNW_004624764:1,773,455...1,789,423 		JBrowse link
G Casz1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:2,024,553...2,078,708
Ensembl chrNW_004624818:2,024,461...2,076,551 		JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:6,755,562...6,767,446 JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,233,547...8,242,547
Ensembl chrNW_004624818:8,233,574...8,242,542 		JBrowse link
G Cenps centromere protein S ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:2,244,114...2,256,870
Ensembl chrNW_004624818:2,249,369...2,256,834 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:6,712,616...6,737,377
Ensembl chrNW_004624818:6,716,695...6,737,883 		JBrowse link
G Cfap107 cilia and flagella associated protein 107 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:333,523...346,236
Ensembl chrNW_004624818:335,264...346,535 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:7,876,727...7,916,762
Ensembl chrNW_004624818:7,882,658...7,918,521 		JBrowse link
G Chd5 chromodomain helicase DNA binding protein 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:5,203,200...5,251,057
Ensembl chrNW_004624818:5,203,304...5,249,033 		JBrowse link
G Ciroz ciliated left-right organizer protein containing ZP-N domains ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,799,997...1,826,300
Ensembl chrNW_004624818:1,809,875...1,826,350 		JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,151,981...1,184,648
Ensembl chrNW_004624818:1,151,981...1,184,616 		JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,202,438...2,212,185
Ensembl chrNW_004624764:2,202,579...2,212,337 		JBrowse link
G Cplane2 ciliogenesis and planar polarity effector complex subunit 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,350,780...2,358,514
Ensembl chrNW_004624764:2,350,780...2,358,495 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,283,925...8,287,410
Ensembl chrNW_004624818:8,283,926...8,287,274 		JBrowse link
G Crocc ciliary rootlet coiled-coil, rootletin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,562,321...2,605,527
Ensembl chrNW_004624764:2,567,316...2,604,992 		JBrowse link
G Ctrc chymotrypsin C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:1,741,703...1,747,715
Ensembl chrNW_004624764:1,741,703...1,747,712 		JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,443,253...8,461,489
Ensembl chrNW_004624818:8,443,447...8,461,489 		JBrowse link
G CUNH1orf167 chromosome unknown C1orf167 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,199,994...1,218,489 JBrowse link
G CUNH1orf174 chromosome unknown C1orf174 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:6,691,416...6,698,288
Ensembl chrNW_004624818:6,691,432...6,698,596 		JBrowse link
G Dffa DNA fragmentation factor subunit alpha ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:2,225,777...2,239,897 JBrowse link
G Dffb DNA fragmentation factor subunit beta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:6,700,120...6,712,449
Ensembl chrNW_004624818:6,700,050...6,712,450 		JBrowse link
G Dhrs3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:557,399...590,872
Ensembl chrNW_004624818:557,409...590,872 		JBrowse link
G Disp3 dispatched RND transporter family member 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,373,337...1,421,575
Ensembl chrNW_004624818:1,378,009...1,421,687 		JBrowse link
G Dnajc11 DnaJ heat shock protein family (Hsp40) member C11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:4,856,558...4,905,788
Ensembl chrNW_004624818:4,856,629...4,905,788 		JBrowse link
G Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:1,792,487...1,844,138
Ensembl chrNW_004624764:1,792,373...1,840,816 		JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,253,968...1,274,418
Ensembl chrNW_004624818:1,256,169...1,263,904 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,267,111...8,283,755
Ensembl chrNW_004624818:8,267,128...8,278,725 		JBrowse link
G Efhd2 EF-hand domain family member D2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:1,722,867...1,737,708
Ensembl chrNW_004624764:1,722,561...1,737,818 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:4,367,780...4,401,000
Ensembl chrNW_004624764:4,370,591...4,400,920 		JBrowse link
G Eno1 enolase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:3,223,384...3,235,128
Ensembl chrNW_004624818:3,223,308...3,238,419 		JBrowse link
G Epha2 EPH receptor A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,265,114...2,296,032
Ensembl chrNW_004624764:2,264,945...2,296,197 		JBrowse link
G Errfi1 ERBB receptor feedback inhibitor 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:3,868,089...3,882,960
Ensembl chrNW_004624818:3,868,814...3,882,960 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:5,015,275...5,042,862
Ensembl chrNW_004624818:5,016,019...5,042,724 		JBrowse link
G Exosc10 exosome component 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,699,729...1,722,999
Ensembl chrNW_004624818:1,699,744...1,725,343 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:7,747,602...7,756,968 JBrowse link
G Fam131c family with sequence similarity 131 member C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,212,511...2,234,012
Ensembl chrNW_004624764:2,212,404...2,233,574 		JBrowse link
G Fbxo2 F-box protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,300,191...1,311,245
Ensembl chrNW_004624818:1,299,067...1,309,667 		JBrowse link
G Fbxo42 F-box protein 42 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,368,251...2,465,867
Ensembl chrNW_004624764:2,368,251...2,466,298 		JBrowse link
G Fbxo6 F-box protein 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,286,819...1,292,565
Ensembl chrNW_004624818:1,286,820...1,292,755 		JBrowse link
G Fhad1 forkhead associated phosphopeptide binding domain 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:1,574,959...1,714,016
Ensembl chrNW_004624764:1,559,435...1,714,268 		JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,120,230...8,126,439
Ensembl chrNW_004624818:8,120,230...8,122,171 		JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:7,856,797...7,864,552
Ensembl chrNW_004624818:7,856,797...7,864,540 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:7,937,061...8,002,798
Ensembl chrNW_004624818:7,936,932...8,003,433 		JBrowse link
G Gpr153 G protein-coupled receptor 153 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:5,144,945...5,155,485
Ensembl chrNW_004624818:5,144,998...5,153,895 		JBrowse link
G Gpr157 G protein-coupled receptor 157 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:3,109,457...3,123,819
Ensembl chrNW_004624818:3,109,407...3,123,912 		JBrowse link
G H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:3,025,323...3,052,486
Ensembl chrNW_004624818:3,025,252...3,051,260 		JBrowse link
G Hes2 hes family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:5,045,170...5,047,998 JBrowse link
G Hes3 hes family bHLH transcription factor 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:5,156,428...5,160,858
Ensembl chrNW_004624818:5,153,717...5,161,026 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:7,516,279...7,517,654
Ensembl chrNW_004624818:7,516,189...7,518,734 		JBrowse link
G Hspb7 heat shock protein family B (small) member 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,194,420...2,197,713
Ensembl chrNW_004624764:2,193,778...2,197,707 		JBrowse link
G Htr6 5-hydroxytryptamine receptor 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:4,778,563...4,791,505
Ensembl chrNW_004624764:4,778,657...4,791,458 		JBrowse link
G Icmt isoprenylcysteine carboxyl methyltransferase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:5,165,923...5,174,761
Ensembl chrNW_004624818:5,165,876...5,174,828 		JBrowse link
G Iffo2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:4,083,495...4,128,307
Ensembl chrNW_004624764:4,086,119...4,127,948 		JBrowse link
G Igsf21 immunoglobin superfamily member 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:3,440,683...3,661,259
Ensembl chrNW_004624764:3,441,941...3,661,330 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,287,539...8,299,456
Ensembl chrNW_004624818:8,289,929...8,299,254 		JBrowse link
G Isg15 ISG15 ubiquitin like modifier ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,510,657...8,511,749 JBrowse link
G Kazn kazrin, periplakin interacting protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:414,993...1,486,004 JBrowse link
G Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:5,251,304...5,326,796
Ensembl chrNW_004624818:5,253,773...5,327,000 		JBrowse link
G Kiaa2013 KIAA2013 ortholog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,096,493...1,102,788
Ensembl chrNW_004624818:1,095,993...1,105,296 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:2,282,999...2,428,586
Ensembl chrNW_004624818:2,282,999...2,428,563 		JBrowse link
G Klhdc7a kelch domain containing 7A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:3,732,685...3,737,878
Ensembl chrNW_004624764:3,732,988...3,735,267 		JBrowse link
G Klhl17 kelch like family member 17 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,545,562...8,551,348
Ensembl chrNW_004624818:8,546,137...8,550,603 		JBrowse link
G Klhl21 kelch like family member 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:4,931,288...4,941,363
Ensembl chrNW_004624818:4,931,296...4,942,199 		JBrowse link
G Lrrc38 leucine rich repeat containing 38 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:81,735...105,325
Ensembl chrNW_004624764:81,637...105,465 		JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:6,741,029...6,749,919
Ensembl chrNW_004624818:6,740,983...6,750,877 		JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:2,591,415...2,605,914
Ensembl chrNW_004624818:2,591,508...2,606,016 		JBrowse link
G Mad2l2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,274,553...1,286,750
Ensembl chrNW_004624818:1,282,082...1,286,997 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,745,401...1,759,051 JBrowse link
G Megf6 multiple EGF like domains 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:6,867,706...6,945,383 JBrowse link
G Mfap2 microfibril associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,606,089...2,611,738
Ensembl chrNW_004624764:2,606,138...2,611,732 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,041,371...1,065,061
Ensembl chrNW_004624818:1,041,369...1,065,023 		JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,078,677...8,091,448
Ensembl chrNW_004624818:8,077,851...8,099,547 		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 chrNW_004624764:4,709,978...4,749,620
Ensembl chrNW_004624764:4,710,105...4,744,769 		JBrowse link
G Miip migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,027,152...1,035,536
Ensembl chrNW_004624818:1,027,315...1,033,936 		JBrowse link
G Mmel1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:7,451,213...7,481,988
Ensembl chrNW_004624818:7,453,177...7,485,439 		JBrowse link
G Mmp23b matrix metallopeptidase 23B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,074,977...8,077,849
Ensembl chrNW_004624818:8,075,725...8,077,838 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:7,616,542...7,667,487
Ensembl chrNW_004624818:7,616,738...7,667,130 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,227,947...8,231,006
Ensembl chrNW_004624818:8,228,005...8,231,009 		JBrowse link
G Mrto4 MRT4 homolog, ribosome maturation factor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:4,401,005...4,406,157
Ensembl chrNW_004624764:4,400,731...4,407,180 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,570,155...1,698,264
Ensembl chrNW_004624818:1,570,276...1,698,259 		JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,258,707...8,264,821
Ensembl chrNW_004624818:8,261,758...8,264,026 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,006,465...8,025,664 JBrowse link
G Nbl1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:4,771,334...4,774,462
Ensembl chrNW_004624764:4,764,903...4,775,707 		JBrowse link
G Necap2 NECAP endocytosis associated 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,543,826...2,557,249
Ensembl chrNW_004624764:2,543,918...2,556,163 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:2,575,476...2,591,423
Ensembl chrNW_004624818:2,573,498...2,580,095 		JBrowse link
G Noc2l NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,551,379...8,563,760
Ensembl chrNW_004624818:8,551,462...8,563,529 		JBrowse link
G Nol9 nucleolar protein 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:4,960,663...4,974,906
Ensembl chrNW_004624818:4,960,601...4,972,598 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:5,325,946...5,432,290
Ensembl chrNW_004624818:5,327,038...5,432,901 		JBrowse link
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,147,654...1,149,722
Ensembl chrNW_004624818:1,147,974...1,148,927 		JBrowse link
G Nppb natriuretic peptide B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,139,776...1,141,010 JBrowse link
G Otud3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:4,950,727...4,979,856
Ensembl chrNW_004624764:4,949,975...4,976,067 		JBrowse link
G Padi2 peptidyl arginine deiminase 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,693,276...2,734,070
Ensembl chrNW_004624764:2,693,060...2,734,107 		JBrowse link
G Padi3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,827,665...2,853,247
Ensembl chrNW_004624764:2,827,682...2,852,353 		JBrowse link
G Padi4 peptidyl arginine deiminase 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,871,002...2,898,748
Ensembl chrNW_004624764:2,871,078...2,898,584 		JBrowse link
G Padi6 peptidyl arginine deiminase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,904,874...2,921,186
Ensembl chrNW_004624764:2,904,384...2,921,523 		JBrowse link
G Pank4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:7,519,347...7,532,116
Ensembl chrNW_004624818:7,519,382...7,532,108 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:3,900,917...3,915,457
Ensembl chrNW_004624818:3,900,917...3,911,042 		JBrowse link
G Pax7 paired box 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:3,853,055...3,951,182
Ensembl chrNW_004624764:3,853,055...3,947,521 		JBrowse link
G Pdpn podoplanin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:163,370...192,770 JBrowse link
G Per3 period circadian regulator 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:3,959,639...4,007,739
Ensembl chrNW_004624818:3,967,333...4,007,739 		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 chrNW_004624818:8,526,953...8,537,071 JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:7,598,467...7,605,067
Ensembl chrNW_004624818:7,597,729...7,605,322 		JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:2,082,709...2,224,235
Ensembl chrNW_004624818:2,082,709...2,224,899 		JBrowse link
G Pgd phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:2,261,658...2,274,878
Ensembl chrNW_004624818:2,261,940...2,274,723 		JBrowse link
G Phf13 PHD finger protein 13 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:4,913,209...4,921,093
Ensembl chrNW_004624818:4,913,287...4,921,118 		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 chrNW_004624818:2,751,724...2,789,145
Ensembl chrNW_004624818:2,751,724...2,779,999 		JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:5,144,549...5,152,517
Ensembl chrNW_004624764:5,144,549...5,151,995 		JBrowse link
G Pla2g2c phospholipase A2 group IIC ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:5,257,955...5,269,744 JBrowse link
G Pla2g2d phospholipase A2 group IID ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:5,224,071...5,229,603
Ensembl chrNW_004624764:5,224,018...5,229,609 		JBrowse link
G Pla2g2e phospholipase A2 group IIE ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:4,984,021...4,989,315
Ensembl chrNW_004624764:4,985,688...4,988,818 		JBrowse link
G Pla2g2f phospholipase A2 group IIF ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:5,243,507...5,249,842
Ensembl chrNW_004624764:5,244,152...5,249,842 		JBrowse link
G Pla2g5 phospholipase A2 group V ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:5,196,215...5,207,138
Ensembl chrNW_004624764:5,196,215...5,207,232 		JBrowse link
G Plch2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:7,533,889...7,595,887
Ensembl chrNW_004624818:7,534,265...7,588,288 		JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:4,990,321...5,010,308
Ensembl chrNW_004624818:4,990,808...5,009,788 		JBrowse link
G Plekhn1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,537,044...8,545,393
Ensembl chrNW_004624818:8,537,631...8,544,676 		JBrowse link
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,070,841...1,092,346
Ensembl chrNW_004624818:1,071,505...1,092,237 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:6,978,436...7,258,366
Ensembl chrNW_004624818:6,978,436...7,258,357 		JBrowse link
G Prdm2 PR/SET domain 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:261,451...384,270
Ensembl chrNW_004624764:276,893...384,270 		JBrowse link
G Prkcz protein kinase C zeta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:7,758,192...7,846,950
Ensembl chrNW_004624818:7,759,770...7,847,208 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:7,478,680...7,485,431
Ensembl chrNW_004624818:7,483,001...7,485,431 		JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,299,449...8,302,333
Ensembl chrNW_004624818:8,299,449...8,302,320 		JBrowse link
G Rcc2 regulator of chromosome condensation 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,924,924...2,950,481
Ensembl chrNW_004624764:2,924,816...2,950,472 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:7,604,854...7,616,457
Ensembl chrNW_004624818:7,605,105...7,616,282 		JBrowse link
G Rere arginine-glutamic acid dipeptide repeats ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:3,255,835...3,648,634
Ensembl chrNW_004624818:3,388,149...3,648,634 		JBrowse link
G Rnf186 ring finger protein 186 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:4,897,234...4,898,470 JBrowse link
G Rnf207 ring finger protein 207 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:5,176,316...5,183,610
Ensembl chrNW_004624818:5,178,299...5,183,610 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,461,662...8,467,044
Ensembl chrNW_004624818:8,461,575...8,467,038 		JBrowse link
G Rpl22 ribosomal protein L22 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:5,189,154...5,198,577
Ensembl chrNW_004624818:5,188,925...5,199,059 		JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,563,376...8,581,028
Ensembl chrNW_004624818:8,563,879...8,581,015 		JBrowse link
G Scnn1d sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,316,300...8,321,995 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,362,107...8,371,565
Ensembl chrNW_004624818:8,365,359...8,371,386 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,655,138...2,679,138
Ensembl chrNW_004624764:2,650,604...2,679,005 		JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:7,674,184...7,736,249
Ensembl chrNW_004624818:7,673,203...7,736,255 		JBrowse link
G Slc25a33 solute carrier family 25 member 33 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:2,838,700...2,868,672
Ensembl chrNW_004624818:2,835,649...2,868,692 		JBrowse link
G Slc2a5 solute carrier family 2 member 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:3,132,345...3,156,184
Ensembl chrNW_004624818:3,135,422...3,155,698 		JBrowse link
G Slc45a1 solute carrier family 45 member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:3,653,999...3,669,433
Ensembl chrNW_004624818:3,654,007...3,665,579 		JBrowse link
G Slc66a1 solute carrier family 66 member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:4,455,843...4,466,413
Ensembl chrNW_004624764:4,457,156...4,465,109 		JBrowse link
G Smim1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:6,749,893...6,755,460
Ensembl chrNW_004624818:6,752,595...6,753,126 		JBrowse link
G Spata21 spermatogenesis associated 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,500,335...2,533,705 JBrowse link
G Spen spen family transcriptional repressor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,058,689...2,144,640
Ensembl chrNW_004624764:2,058,773...2,143,640 		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 chrNW_004624818:2,965,222...3,014,544
Ensembl chrNW_004624818:2,964,984...2,983,433 		JBrowse link
G Srarp steroid receptor associated and regulated protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,174,205...2,188,407 JBrowse link
G Srm spermidine synthase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,725,614...1,729,374
Ensembl chrNW_004624818:1,725,480...1,732,186 		JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,147,173...8,177,682
Ensembl chrNW_004624818:8,147,185...8,177,684 		JBrowse link
G Szrd1 SUZ RNA binding domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,472,771...2,500,136
Ensembl chrNW_004624764:2,472,426...2,500,251 		JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,759,496...1,789,806
Ensembl chrNW_004624818:1,759,497...1,789,813 		JBrowse link
G Tas1r1 taste 1 receptor member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:4,951,593...4,959,828
Ensembl chrNW_004624818:4,951,359...4,959,503 		JBrowse link
G Tas1r2 taste 1 receptor member 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:4,031,759...4,046,285
Ensembl chrNW_004624764:4,031,651...4,044,916 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,279,161...8,282,304
Ensembl chrNW_004624818:8,279,161...8,282,304 		JBrowse link
G Thap3 THAP domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:4,905,070...4,913,095
Ensembl chrNW_004624818:4,906,385...4,912,544 		JBrowse link
G Tmco4 transmembrane and coiled-coil domains 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:4,793,324...4,882,334
Ensembl chrNW_004624764:4,793,812...4,882,266 		JBrowse link
G Tmem201 transmembrane protein 201 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:2,817,083...2,835,468
Ensembl chrNW_004624818:2,816,845...2,835,524 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,178,425...8,183,185
Ensembl chrNW_004624818:8,178,451...8,183,043 		JBrowse link
G Tmem278 transmembrane protein 278 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,213,876...8,217,899
Ensembl chrNW_004624818:8,215,265...8,216,922 		JBrowse link
G Tmem51 transmembrane protein 51 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:1,512,251...1,560,533
Ensembl chrNW_004624764:1,524,793...1,560,646 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:7,916,889...7,920,138
Ensembl chrNW_004624818:7,918,625...7,920,138 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:7,491,473...7,505,185 JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,376,204...8,380,266
Ensembl chrNW_004624818:8,378,131...8,379,974 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:894,470...922,806
Ensembl chrNW_004624818:896,150...922,710 		JBrowse link
G Tnfrsf25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:5,010,508...5,012,453 JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,372,092...8,376,108
Ensembl chrNW_004624818:8,373,810...8,376,204 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:957,597...996,565 JBrowse link
G Tnfrsf9 TNF receptor superfamily member 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:3,924,883...3,934,343
Ensembl chrNW_004624818:3,925,626...3,934,046 		JBrowse link
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:6,775,588...6,817,187
Ensembl chrNW_004624818:6,775,599...6,809,289 		JBrowse link
G Tprg1l tumor protein p63 regulated 1 like ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:6,850,479...6,857,979
Ensembl chrNW_004624818:6,850,486...6,858,136 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:7,435,250...7,447,905
Ensembl chrNW_004624818:7,427,787...7,447,303 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,382,673...8,389,891 JBrowse link
G Ube2j2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624818:8,326,592...8,347,108
Ensembl chrNW_004624818:8,326,781...8,347,370 		JBrowse link
G Ube4b ubiquitination factor E4B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:2,448,809...2,561,947
Ensembl chrNW_004624818:2,447,368...2,562,128 		JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:1,555,751...1,565,281
Ensembl chrNW_004624818:1,554,084...1,565,383 		JBrowse link
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:4,223,784...4,358,923
Ensembl chrNW_004624764:4,223,784...4,358,885 		JBrowse link
G Ubxn10 UBX domain protein 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:5,277,390...5,285,508
Ensembl chrNW_004624764:5,277,398...5,285,499 		JBrowse link
G Vamp3 vesicle associated membrane protein 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:4,010,130...4,019,695
Ensembl chrNW_004624818:4,009,991...4,019,728 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:632,276...885,450
Ensembl chrNW_004624818:632,278...885,445 		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 chrNW_004624818:8,204,223...8,208,398
Ensembl chrNW_004624818:8,204,749...8,208,358 		JBrowse link
G Wrap73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:6,838,261...6,850,115
Ensembl chrNW_004624818:6,838,376...6,850,020 		JBrowse link
G Zbtb17 zinc finger and BTB domain containing 17 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624764:2,144,555...2,174,177
Ensembl chrNW_004624764:2,144,878...2,174,545 		JBrowse link
G Zbtb48 zinc finger and BTB domain containing 48 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004624818:4,943,468...4,951,223
Ensembl chrNW_004624818:4,942,849...4,951,024 		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 chrNW_004624772:16,661,720...16,707,676
Ensembl chrNW_004624772:16,688,493...16,707,189 		JBrowse link
G Bcl9 BCL9 transcription coactivator ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chrNW_004624772:16,580,740...16,661,617
Ensembl chrNW_004624772:16,647,707...16,661,978 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chrNW_004624772:16,178,080...16,241,869
Ensembl chrNW_004624772:16,178,139...16,241,624 		JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chrNW_004624772:16,132,648...16,155,717
Ensembl chrNW_004624772:16,131,954...16,155,477 		JBrowse link
G Gja5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624772:16,810,723...16,828,328
Ensembl chrNW_004624772:16,813,011...16,814,084 		JBrowse link
G Gja8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar PMID:25741868 PMID:26694549 PMID:28492532 PMID:28827829 PMID:29464339 NCBI chrNW_004624772:16,959,615...16,960,937
Ensembl chrNW_004624772:16,959,615...16,960,937 		JBrowse link
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chrNW_004624772:16,110,805...16,127,221
Ensembl chrNW_004624772:16,110,294...16,127,119 		JBrowse link
chromosome 1q41-q42 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53bp2 tumor protein p53 binding protein 2 ISO OMIM:612530 MouseDO NCBI chrNW_004624835:5,744,973...5,790,840
Ensembl chrNW_004624835:5,744,543...5,790,603 		JBrowse link
chromosome 22q11.2 deletion syndrome, distal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:28492532 NCBI chrNW_004624824:85,369...144,053
Ensembl chrNW_004624824:84,430...144,062 		JBrowse link
G Aifm3 AIF family member 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:710,562...724,699
Ensembl chrNW_004624945:710,820...722,621 		JBrowse link
G Arvcf ARVCF delta catenin family member ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:590,293...643,797
Ensembl chrNW_004624747:591,891...610,988 		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 chrNW_004624747:9,528,968...9,664,055
Ensembl chrNW_004624747:9,528,996...9,662,131 		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 chrNW_004624747:1,183,749...1,190,645 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 chrNW_004624747:756,298...759,056 JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:132,731...161,590
Ensembl chrNW_004624747:132,835...161,553 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:164,113...166,502
Ensembl chrNW_004624747:164,761...165,417 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:734,532...767,184
Ensembl chrNW_004624945:734,532...767,168 		JBrowse link
G CUNH22orf39 chromosome unknown C22orf39 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:101,938...109,335
Ensembl chrNW_004624747:103,310...107,382 		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 chrNW_004624945:204,374...295,551
Ensembl chrNW_004624945:204,133...297,341 		JBrowse link
G Dgcr6l DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:905,239...910,562 JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:689,751...722,266
Ensembl chrNW_004624747:689,955...722,266 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:176,773...187,586
Ensembl chrNW_004624945:176,678...188,040 		JBrowse link
G Gnaz G protein subunit alpha z ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624747:9,425,720...9,479,571
Ensembl chrNW_004624747:9,425,775...9,480,162 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:418,912...489,057
Ensembl chrNW_004624747:418,519...489,529 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:352,129...354,173
Ensembl chrNW_004624747:352,165...354,170 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:172,345...176,453
Ensembl chrNW_004624945:172,345...176,191 		JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624747:1,065,864...1,096,164
Ensembl chrNW_004624747:1,067,927...1,092,757 		JBrowse link
G Klhl22 kelch like family member 22 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:409,093...446,619
Ensembl chrNW_004624945:408,999...441,975 		JBrowse link
G LOC101713307 protein HIRA ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:9...95,643 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 chrNW_004624945:656,956...685,824
Ensembl chrNW_004624945:656,983...670,865 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564 		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 chrNW_004624747:1,296,062...1,389,674
Ensembl chrNW_004624747:1,296,221...1,389,757 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:488,396...562,084 JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:96,411...99,490
Ensembl chrNW_004624747:96,418...100,913 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:646,361...687,901
Ensembl chrNW_004624945:648,499...656,075 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:837,877...1,016,041
Ensembl chrNW_004624945:837,864...1,014,684 		JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:1,221,703...1,248,398
Ensembl chrNW_004624747:1,221,631...1,248,391 		JBrowse link
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent 1F ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:1,417,004...1,446,211
Ensembl chrNW_004624747:1,420,835...1,446,143 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222 		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 chrNW_004624747:9,504,525...9,521,315
Ensembl chrNW_004624747:9,506,138...9,519,176 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:728,123...736,045
Ensembl chrNW_004624747:728,014...736,043 		JBrowse link
G Rimbp3c RIMS binding protein 3C ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:1,110,596...1,115,995 JBrowse link
G Rsph14 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624747:9,416,411...9,504,561
Ensembl chrNW_004624747:9,416,373...9,502,716 		JBrowse link
G Rtl10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:484,995...486,791 JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:829,947...855,942
Ensembl chrNW_004624747:829,850...855,991 		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 chrNW_004624945:392,615...404,961
Ensembl chrNW_004624945:393,412...404,958 		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 chrNW_004624747:1,195,043...1,197,105
Ensembl chrNW_004624747:1,195,055...1,197,105 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:343,940...352,016
Ensembl chrNW_004624747:343,934...353,561 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:919,639...932,515
Ensembl chrNW_004624945:915,789...932,515 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:155,596...159,042
Ensembl chrNW_004624945:155,604...159,667 		JBrowse link
G Slc7a4 solute carrier family 7 member 4 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:642,082...646,247
Ensembl chrNW_004624945:642,432...646,231 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:799,831...837,720
Ensembl chrNW_004624945:801,833...837,564 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:647,571...686,870 JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098 		JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:687,941...690,480
Ensembl chrNW_004624945:688,185...690,480 		JBrowse link
G Top3b DNA topoisomerase III beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:1,450,236...1,473,467
Ensembl chrNW_004624747:1,446,412...1,473,600 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:722,901...727,979
Ensembl chrNW_004624747:722,607...727,947 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:485,012...569,175
Ensembl chrNW_004624747:514,158...569,154 		JBrowse link
G Ube2l3 ubiquitin conjugating enzyme E2 L3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:1,125,009...1,178,595
Ensembl chrNW_004624747:1,125,022...1,177,524 		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 chrNW_004624747:110,090...132,145
Ensembl chrNW_004624747:110,090...132,097 		JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:1,181,617...1,183,581
Ensembl chrNW_004624747:1,181,956...1,183,485 		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 chrNW_004624747:1,248,026...1,274,909
Ensembl chrNW_004624747:1,248,026...1,274,869 		JBrowse link
G Zdhhc8 zDHHC palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624747:740,352...755,891
Ensembl chrNW_004624747:739,594...754,989 		JBrowse link
G Znf280a zinc finger protein 280A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004624747:8,841,993...8,848,484 JBrowse link
G Znf280b 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 chrNW_004624747:8,816,707...8,835,136
Ensembl chrNW_004624747:8,819,889...8,821,529 		JBrowse link
G Znf74 zinc finger protein 74 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004624945:356,794...367,202 JBrowse link
chromosome 22q11.2 microduplication syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm3 AIF family member 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:710,562...724,699
Ensembl chrNW_004624945:710,820...722,621 		JBrowse link
G Arvcf ARVCF delta catenin family member ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:590,293...643,797
Ensembl chrNW_004624747:591,891...610,988 		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 chrNW_004624747:756,298...759,056 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 chrNW_004624747:132,731...161,590
Ensembl chrNW_004624747:132,835...161,553 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:164,113...166,502
Ensembl chrNW_004624747:164,761...165,417 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:734,532...767,184
Ensembl chrNW_004624945:734,532...767,168 		JBrowse link
G CUNH22orf39 chromosome unknown C22orf39 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:101,938...109,335
Ensembl chrNW_004624747:103,310...107,382 		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 chrNW_004624945:204,374...295,551
Ensembl chrNW_004624945:204,133...297,341 		JBrowse link
G Dgcr6l DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:905,239...910,562 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 chrNW_004624747:689,751...722,266
Ensembl chrNW_004624747:689,955...722,266 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:176,773...187,586
Ensembl chrNW_004624945:176,678...188,040 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:418,912...489,057
Ensembl chrNW_004624747:418,519...489,529 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:352,129...354,173
Ensembl chrNW_004624747:352,165...354,170 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:172,345...176,453
Ensembl chrNW_004624945:172,345...176,191 		JBrowse link
G Klhl22 kelch like family member 22 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:409,093...446,619
Ensembl chrNW_004624945:408,999...441,975 		JBrowse link
G LOC101713307 protein HIRA ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:9...95,643 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 chrNW_004624945:656,956...685,824
Ensembl chrNW_004624945:656,983...670,865 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564 		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 chrNW_004624945:488,396...562,084 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 chrNW_004624747:96,411...99,490
Ensembl chrNW_004624747:96,418...100,913 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:646,361...687,901
Ensembl chrNW_004624945:648,499...656,075 		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 chrNW_004624945:837,877...1,016,041
Ensembl chrNW_004624945:837,864...1,014,684 		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 chrNW_004624747:728,123...736,045
Ensembl chrNW_004624747:728,014...736,043 		JBrowse link
G Rtl10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:484,995...486,791 JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:829,947...855,942
Ensembl chrNW_004624747:829,850...855,991 		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 chrNW_004624945:392,615...404,961
Ensembl chrNW_004624945:393,412...404,958 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:343,940...352,016
Ensembl chrNW_004624747:343,934...353,561 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:919,639...932,515
Ensembl chrNW_004624945:915,789...932,515 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:155,596...159,042
Ensembl chrNW_004624945:155,604...159,667 		JBrowse link
G Slc7a4 solute carrier family 7 member 4 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:642,082...646,247
Ensembl chrNW_004624945:642,432...646,231 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:799,831...837,720
Ensembl chrNW_004624945:801,833...837,564 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:647,571...686,870 JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098 		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 chrNW_004624945:687,941...690,480
Ensembl chrNW_004624945:688,185...690,480 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:722,901...727,979
Ensembl chrNW_004624747:722,607...727,947 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:485,012...569,175
Ensembl chrNW_004624747:514,158...569,154 		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 chrNW_004624747:110,090...132,145
Ensembl chrNW_004624747:110,090...132,097 		JBrowse link
G Zdhhc8 zDHHC palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624747:740,352...755,891
Ensembl chrNW_004624747:739,594...754,989 		JBrowse link
G Znf74 zinc finger protein 74 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004624945:356,794...367,202 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 chrNW_004624833:444,143...719,840
Ensembl chrNW_004624833:444,250...719,276 		JBrowse link
CHROMOSOME 2p16.3 DELETION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrxn1 neurexin 1 susceptibility ISO ClinVar Annotator: match by term: Chromosome 2P16.3 deletion syndrome | ClinVar Annotator: match by term: Chromosome 2p16.3 deletion syndrome OMIM
ClinVar		 PMID:18179900 PMID:18945720 PMID:21681106 PMID:23495017 PMID:25741868 More... NCBI chrNW_004624738:31,134,551...32,273,596
Ensembl chrNW_004624738:31,133,346...32,273,565 		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 and serine--pyruvate aminotransferase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,066,356...5,073,538
Ensembl chrNW_004624847:5,067,201...5,077,525 		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 chrNW_004624847:4,856,789...4,890,982
Ensembl chrNW_004624847:4,860,668...4,890,718 		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 chrNW_004624847:3,477,499...3,489,427
Ensembl chrNW_004624847:3,477,516...3,491,451 		JBrowse link
G Atg4b autophagy related 4B cysteine peptidase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,605,818...5,629,729
Ensembl chrNW_004624847:5,605,844...5,629,891 		JBrowse link
G Bok BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,564,671...5,573,459
Ensembl chrNW_004624847:5,564,979...5,573,459 		JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:4,911,052...4,922,549
Ensembl chrNW_004624847:4,911,737...4,922,192 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:2,786,560...2,863,800
Ensembl chrNW_004624847:2,787,319...2,863,853 		JBrowse link
G Cops8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:2,609,760...2,620,804
Ensembl chrNW_004624847:2,609,743...2,620,789 		JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:4,679,059...4,684,041
Ensembl chrNW_004624847:4,679,059...4,683,969 		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 chrNW_004624847:5,095,183...5,145,196
Ensembl chrNW_004624847:5,095,451...5,142,313 		JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,664,306...5,683,959
Ensembl chrNW_004624847:5,664,252...5,683,959 		JBrowse link
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,630,765...5,637,948
Ensembl chrNW_004624847:5,630,619...5,638,000 		JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:4,893,146...4,894,593
Ensembl chrNW_004624847:4,893,202...4,893,873 		JBrowse link
G Erfe erythroferrone ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:3,313,214...3,319,050 JBrowse link
G Espnl espin like ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:3,279,022...3,299,321
Ensembl chrNW_004624847:3,279,555...3,298,589 		JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,385,718...5,511,408
Ensembl chrNW_004624847:5,385,764...5,511,227 		JBrowse link
G Gal3st2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,688,903...5,700,300
Ensembl chrNW_004624847:5,696,086...5,698,750 		JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:4,832,610...4,853,849
Ensembl chrNW_004624847:4,832,488...4,853,851 		JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:4,922,631...4,947,098
Ensembl chrNW_004624847:4,925,516...4,945,831 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: 2q37 microdeletion syndrome | ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:10958686 PMID:11486037 PMID:20691407 PMID:23188045 PMID:24715439 More... NCBI chrNW_004624847:3,846,196...4,101,537
Ensembl chrNW_004624847:3,845,858...4,101,487 		JBrowse link
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,278,695...5,341,333
Ensembl chrNW_004624847:5,278,695...5,340,818 		JBrowse link
G Hes6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:3,353,997...3,355,484
Ensembl chrNW_004624847:3,354,501...3,355,378 		JBrowse link
G Ilkap ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:3,321,400...3,344,725
Ensembl chrNW_004624847:3,320,788...3,344,705 		JBrowse link
G Ing5 inhibitor of growth family member 5 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,648,199...5,659,038
Ensembl chrNW_004624847:5,648,233...5,662,044 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:4,961,552...5,035,125
Ensembl chrNW_004624847:4,961,552...5,035,061 		JBrowse link
G Klhl30 kelch like family member 30 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:3,302,124...3,310,701
Ensembl chrNW_004624847:3,302,135...3,310,696 		JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:2,993,251...3,095,611
Ensembl chrNW_004624847:2,993,291...3,094,961 		JBrowse link
G Mab21l4 mab-21 like 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,079,755...5,087,593
Ensembl chrNW_004624847:5,078,945...5,087,436 		JBrowse link
G Mlph melanophilin ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:2,919,391...2,958,459
Ensembl chrNW_004624847:2,919,404...2,958,554 		JBrowse link
G Mterf4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,207,624...5,214,218
Ensembl chrNW_004624847:5,207,882...5,214,156 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:4,371,264...4,412,334
Ensembl chrNW_004624847:4,370,570...4,412,393 		JBrowse link
G Neu4 neuraminidase 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,716,165...5,720,542
Ensembl chrNW_004624847:5,716,659...5,720,542 		JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:4,685,889...4,686,813 JBrowse link
G Pask PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,215,626...5,246,540
Ensembl chrNW_004624847:5,216,441...5,238,908 		JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,732,922...5,741,908
Ensembl chrNW_004624847:5,732,767...5,742,269 		JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:3,359,174...3,399,584
Ensembl chrNW_004624847:3,361,170...3,390,405 		JBrowse link
G Ppp1r7 protein phosphatase 1 regulatory subunit 7 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,247,094...5,263,873
Ensembl chrNW_004624847:5,246,734...5,263,867 		JBrowse link
G Prlh prolactin releasing hormone ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:2,960,750...2,961,324
Ensembl chrNW_004624847:2,960,750...2,961,324 		JBrowse link
G Ramp1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:3,169,339...3,202,393
Ensembl chrNW_004624847:3,169,360...3,202,389 		JBrowse link
G Rbm44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:3,105,568...3,158,511
Ensembl chrNW_004624847:3,105,564...3,158,902 		JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:4,897,496...4,905,823
Ensembl chrNW_004624847:4,897,496...4,906,282 		JBrowse link
G Rtp5 receptor transporter protein 5 (putative) ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,746,275...5,751,088 JBrowse link
G Scly selenocysteine lyase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:3,260,966...3,278,915
Ensembl chrNW_004624847:3,260,952...3,279,526 		JBrowse link
G Septin2 septin 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,341,177...5,382,920
Ensembl chrNW_004624847:5,341,467...5,385,065 		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 chrNW_004624847:5,146,973...5,207,481
Ensembl chrNW_004624847:5,147,008...5,202,666 		JBrowse link
G Stk25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,511,590...5,530,773
Ensembl chrNW_004624847:5,511,007...5,530,764 		JBrowse link
G Thap4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:5,579,521...5,605,447
Ensembl chrNW_004624847:5,578,001...5,605,423 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:3,424,388...3,469,708
Ensembl chrNW_004624847:3,424,365...3,472,075 		JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:3,730,126...3,774,338
Ensembl chrNW_004624847:3,730,291...3,773,773 		JBrowse link
G Ube2f ubiquitin conjugating enzyme E2 F (putative) ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624847:3,213,455...3,253,049
Ensembl chrNW_004624847:3,213,196...3,253,407 		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 chrNW_004624731:3,348,172...3,363,772
Ensembl chrNW_004624731:3,347,984...3,364,581 		JBrowse link
G Oxtr oxytocin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chrNW_004624731:3,367,645...3,384,815
Ensembl chrNW_004624731:3,370,701...3,385,640 		JBrowse link
G Srgap3 SLIT-ROBO Rho GTPase activating protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chrNW_004624731:3,707,934...3,937,175
Ensembl chrNW_004624731:3,712,361...3,824,206 		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 chrNW_004624730:61,783,665...61,789,980
Ensembl chrNW_004624730:61,783,903...61,790,001 		JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:62,001,547...62,223,098
Ensembl chrNW_004624730:62,002,280...62,223,319 		JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:61,467,262...61,479,848
Ensembl chrNW_004624730:61,467,510...61,479,756 		JBrowse link
G Fbxo45 F-box protein 45 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:61,667,177...61,684,162 JBrowse link
G Meltf melanotransferrin ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:61,967,868...61,990,576
Ensembl chrNW_004624730:61,971,877...61,988,902 		JBrowse link
G Ncbp2 nuclear cap binding protein subunit 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:61,925,831...61,931,451
Ensembl chrNW_004624730:61,925,831...61,931,385 		JBrowse link
G Nrros negative regulator of reactive oxygen species ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:61,717,592...61,742,374
Ensembl chrNW_004624730:61,735,134...61,742,541 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:61,809,876...61,879,755
Ensembl chrNW_004624730:61,817,300...61,879,755 		JBrowse link
G Pcyt1a phosphate cytidylyltransferase 1A, choline ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:61,417,030...61,466,028
Ensembl chrNW_004624730:61,418,013...61,466,016 		JBrowse link
G Pigx phosphatidylinositol glycan anchor biosynthesis class X ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:61,789,769...61,812,875
Ensembl chrNW_004624730:61,789,911...61,813,502 		JBrowse link
G Pigz phosphatidylinositol glycan anchor biosynthesis class Z ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:61,933,493...61,956,516
Ensembl chrNW_004624730:61,933,431...61,937,413 		JBrowse link
G Rnf168 ring finger protein 168 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:61,592,967...61,627,585
Ensembl chrNW_004624730:61,591,943...61,627,170 		JBrowse link
G Senp5 SUMO specific peptidase 5 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:61,891,580...61,924,858 JBrowse link
G Slc51a solute carrier family 51 member A ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:61,405,480...61,416,602
Ensembl chrNW_004624730:61,404,807...61,416,384 		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 chrNW_004624730:61,632,664...61,636,014
Ensembl chrNW_004624730:61,632,737...61,635,812 		JBrowse link
G Tfrc transferrin receptor ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:61,282,650...61,313,487
Ensembl chrNW_004624730:61,285,334...61,313,550 		JBrowse link
G Tm4sf19 transmembrane 4 L six family member 19 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:61,484,511...61,487,458
Ensembl chrNW_004624730:61,484,712...61,487,335 		JBrowse link
G Tnk2 tyrosine kinase non receptor 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:61,237,653...61,272,499
Ensembl chrNW_004624730:61,236,983...61,273,166 		JBrowse link
G Ubxn7 UBX domain protein 7 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:61,505,225...61,571,945
Ensembl chrNW_004624730:61,507,095...61,571,931 		JBrowse link
G Wdr53 WD repeat domain 53 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:61,644,358...61,667,005
Ensembl chrNW_004624730:61,641,450...61,666,975 		JBrowse link
G Zdhhc19 zDHHC palmitoyltransferase 19 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004624730:61,357,276...61,405,048
Ensembl chrNW_004624730:61,362,941...61,370,514 		JBrowse link
chromosome 4q21 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abraxas1 abraxas 1, BRCA1 A complex subunit ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004624900:431,969...447,535
Ensembl chrNW_004624900:434,576...447,518 		JBrowse link
G Cds1 CDP-diacylglycerol synthase 1 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004624900:1,701,507...1,765,791
Ensembl chrNW_004624900:1,701,522...1,766,768 		JBrowse link
G Cops4 COP9 signalosome subunit 4 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004624900:90,154...127,299
Ensembl chrNW_004624900:89,940...131,300 		JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004624900:272,440...288,090
Ensembl chrNW_004624900:272,404...288,675 		JBrowse link
G Enoph1 enolase-phosphatase 1 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004624757:8,456,021...8,488,262
Ensembl chrNW_004624757:8,456,966...8,488,229 		JBrowse link
G Gpat3 glycerol-3-phosphate acyltransferase 3 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004624900:493,982...545,932
Ensembl chrNW_004624900:493,852...546,983 		JBrowse link
G Helq helicase, POLQ like ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004624900:375,081...419,698
Ensembl chrNW_004624900:375,216...419,672 		JBrowse link
G Hnrnpd heterogeneous nuclear ribonucleoprotein D ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004624757:8,532,373...8,549,840
Ensembl chrNW_004624757:8,531,601...8,549,835 		JBrowse link
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D like ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004624757:8,488,619...8,495,498
Ensembl chrNW_004624757:8,488,365...8,495,822 		JBrowse link
G Hpse heparanase ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004624900:296,626...335,624
Ensembl chrNW_004624900:296,676...335,570 		JBrowse link
G Lin54 lin-54 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004624900:12,511...66,582
Ensembl chrNW_004624900:12,174...66,648 		JBrowse link
G Mrps18c mitochondrial ribosomal protein S18C ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004624900:419,835...426,886 JBrowse link
G Nkx6-1 NK6 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004624900:1,618,019...1,623,975
Ensembl chrNW_004624900:1,618,563...1,623,793 		JBrowse link
G Plac8 placenta associated 8 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004624900:134,075...157,982
Ensembl chrNW_004624900:133,889...158,050 		JBrowse link
G Scd5 stearoyl-CoA desaturase 5 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004624757:8,133,260...8,302,168
Ensembl chrNW_004624757:8,132,895...8,302,551 		JBrowse link
G Sec31a SEC31 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004624757:8,040,894...8,122,785 JBrowse link
G Thap9 THAP domain containing 9 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004624757:8,011,452...8,029,844
Ensembl chrNW_004624757:8,014,278...8,029,701 		JBrowse link
G Tmem150c transmembrane protein 150C ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004624757:8,372,847...8,442,429
Ensembl chrNW_004624757:8,422,872...8,444,442 		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 chrNW_004624733:13,537,363...13,582,390
Ensembl chrNW_004624733:13,535,809...13,576,940 		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 chrNW_004624733:13,476,389...13,489,273 JBrowse link
G Faf2 Fas associated factor family member 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004624733:13,608,993...13,674,200
Ensembl chrNW_004624733:13,608,360...13,674,175 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004624733:12,964,893...12,979,198
Ensembl chrNW_004624733:12,964,746...12,976,732 		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 chrNW_004624733:13,523,307...13,537,324
Ensembl chrNW_004624733:13,533,438...13,536,317 		JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004624733:13,245,822...13,262,300
Ensembl chrNW_004624733:13,245,845...13,262,184 		JBrowse link
G Lman2 lectin, mannose binding 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004624733:12,728,061...12,747,093
Ensembl chrNW_004624733:12,727,838...12,747,441 		JBrowse link
G Mxd3 MAX dimerization protein 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004624733:12,769,031...12,777,613
Ensembl chrNW_004624733:12,769,245...12,774,778 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004624733:12,781,693...12,929,861
Ensembl chrNW_004624733:12,786,347...12,927,980 		JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004624733:12,774,456...12,778,174
Ensembl chrNW_004624733:12,774,737...12,778,131 		JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004624733:12,778,262...12,780,389
Ensembl chrNW_004624733:12,778,277...12,780,389 		JBrowse link
G Rgs14 regulator of G protein signaling 14 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004624733:12,705,392...12,722,919
Ensembl chrNW_004624733:12,707,825...12,723,279 		JBrowse link
G Rnf44 ring finger protein 44 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004624733:13,582,201...13,597,798 JBrowse link
G Sncb synuclein beta ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004624733:13,506,181...13,513,979
Ensembl chrNW_004624733:13,506,180...13,513,712 		JBrowse link
G Tspan17 tetraspanin 17 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004624733:13,466,005...13,476,313
Ensembl chrNW_004624733:13,468,255...13,476,329 		JBrowse link
G Uimc1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004624733:13,096,572...13,240,685
Ensembl chrNW_004624733:13,096,286...13,242,372 		JBrowse link
G Unc5a unc-5 netrin receptor A ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004624733:13,262,271...13,322,649
Ensembl chrNW_004624733:13,262,271...13,322,673 		JBrowse link
G Znf346 zinc finger protein 346 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004624733:12,997,728...13,057,640
Ensembl chrNW_004624733:12,995,358...13,068,150 		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 chrNW_004624735:13,148,640...13,165,259
Ensembl chrNW_004624735:13,154,327...13,173,477 		JBrowse link
G Klf1 KLF transcription factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chrNW_004624901:467,937...471,917
Ensembl chrNW_004624901:468,662...471,500 		JBrowse link
G Rps14 ribosomal protein S14 ISO OMIM NCBI chrNW_004624774:9,727,216...9,733,114
Ensembl chrNW_004624774:9,726,434...9,733,410 		JBrowse link
chromosome 6q24-q25 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap12 A-kinase anchoring protein 12 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624785:6,900,252...6,987,712
Ensembl chrNW_004624785:6,897,561...6,988,287 		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 chrNW_004624785:970,169...1,417,847
Ensembl chrNW_004624785:973,003...1,417,853 		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 chrNW_004624785:6,801,512...6,814,680 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 chrNW_004624785:6,659,375...6,742,757
Ensembl chrNW_004624785:6,658,352...6,728,377 		JBrowse link
G Cldn20 claudin 20 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624785:3,063,852...3,065,040
Ensembl chrNW_004624785:3,063,991...3,064,650 		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 chrNW_004624785:3,805,829...3,905,554
Ensembl chrNW_004624785:3,805,389...3,902,216 		JBrowse link
G Dynlt1 dynein light chain Tctex-type 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624929:969,294...976,420
Ensembl chrNW_004624929:968,823...976,414 		JBrowse link
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624785:6,164,507...6,601,302
Ensembl chrNW_004624785:6,164,379...6,601,326 		JBrowse link
G Ezr ezrin ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624929:827,275...873,743
Ensembl chrNW_004624929:826,531...873,572 		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 chrNW_004624785:5,248,434...5,260,623
Ensembl chrNW_004624785:5,247,731...5,260,736 		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 chrNW_004624929:395,766...495,288
Ensembl chrNW_004624929:395,705...460,563 		JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624785:70,425...82,098
Ensembl chrNW_004624785:69,978...82,012 		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 chrNW_004624785:4,031,811...4,114,650
Ensembl chrNW_004624785:4,017,720...4,111,043 		JBrowse link
G Iyd iodotyrosine deiodinase ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624785:7,799,975...7,824,611
Ensembl chrNW_004624785:7,800,408...7,824,647 		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 chrNW_004624785:7,129,969...7,328,331
Ensembl chrNW_004624785:7,129,859...7,328,153 		JBrowse link
G Mtrf1l mitochondrial translation release factor 1 like ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624785:5,226,894...5,240,615
Ensembl chrNW_004624785:5,226,805...5,242,671 		JBrowse link
G Myct1 MYC target 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624785:5,543,867...5,570,727
Ensembl chrNW_004624785:5,543,855...5,570,774 		JBrowse link
G Nox3 NADPH oxidase 3 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624785:2,869,024...2,955,039
Ensembl chrNW_004624785:2,893,559...2,954,793 		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 chrNW_004624785:4,147,079...4,195,712
Ensembl chrNW_004624785:4,032,689...4,196,186 		JBrowse link
G Plekhg1 pleckstrin homology and RhoGEF domain containing G1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624785:7,340,310...7,590,385
Ensembl chrNW_004624785:7,338,592...7,513,435 		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 chrNW_004624785:5,086,828...5,225,147
Ensembl chrNW_004624785:5,086,765...5,218,367 		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 chrNW_004624785:6,814,901...6,856,643
Ensembl chrNW_004624785:6,822,268...6,857,035 		JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624929:661,257...682,772
Ensembl chrNW_004624929:661,495...682,072 		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 chrNW_004624785:3,349,809...3,559,895
Ensembl chrNW_004624785:3,465,821...3,559,757 		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 chrNW_004624785:82,120...155,103
Ensembl chrNW_004624785:82,155...146,457 		JBrowse link
G Snx9 sorting nexin 9 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624785:283,886...374,740
Ensembl chrNW_004624785:282,512...374,378 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624785:5,647,041...6,144,065 JBrowse link
G Synj2 synaptojanin 2 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624785:157,455...265,926
Ensembl chrNW_004624785:145,228...266,022 		JBrowse link
G Sytl3 synaptotagmin like 3 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624929:874,246...969,213
Ensembl chrNW_004624929:874,471...953,246 		JBrowse link
G Tagap T cell activation RhoGTPase activating protein ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624929:630,707...642,915
Ensembl chrNW_004624929:631,593...639,482 		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 chrNW_004624785:3,027,662...3,085,879
Ensembl chrNW_004624785:3,027,230...3,085,879 		JBrowse link
G Tiam2 TIAM Rac1 associated GEF 2 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624785:3,085,876...3,303,006
Ensembl chrNW_004624785:3,086,449...3,192,680 		JBrowse link
G Tmem181 transmembrane protein 181 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624929:977,896...1,053,590
Ensembl chrNW_004624929:979,523...1,040,057 		JBrowse link
G Tmem242 transmembrane protein 242 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624785:840,425...874,306
Ensembl chrNW_004624785:840,632...874,305 		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 chrNW_004624929:1,095,164...1,317,623
Ensembl chrNW_004624929:1,098,801...1,253,891 		JBrowse link
G Vip vasoactive intestinal peptide ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624785:5,466,429...5,487,763
Ensembl chrNW_004624785:5,468,563...5,488,143 		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 chrNW_004624785:6,869,923...6,892,263
Ensembl chrNW_004624785:6,883,436...6,894,339 		JBrowse link
G Zdhhc14 zDHHC palmitoyltransferase 14 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624785:478,333...796,841
Ensembl chrNW_004624785:504,190...796,015 		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 Ccdc146 coiled-coil domain containing 146 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624739:26,445,872...26,580,775
Ensembl chrNW_004624739:26,474,281...26,581,666 		JBrowse link
G Ccl24 C-C motif chemokine ligand 24 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624740:14,640,486...14,652,414
Ensembl chrNW_004624740:14,640,292...14,643,020 		JBrowse link
G Dtx2 deltex E3 ubiquitin ligase 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624740:15,055,984...15,098,322
Ensembl chrNW_004624740:15,055,915...15,098,322 		JBrowse link
G Fgl2 fibrinogen like 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624739:26,501,149...26,507,305
Ensembl chrNW_004624739:26,503,965...26,507,305 		JBrowse link
G Gsap gamma-secretase activating protein ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624739:26,582,689...26,657,097 JBrowse link
G Hip1 huntingtin interacting protein 1 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624740:14,460,742...14,607,203
Ensembl chrNW_004624740:14,464,372...14,607,130 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624740:14,940,161...14,941,561
Ensembl chrNW_004624740:14,939,445...14,941,819 		JBrowse link
G LOC101712555 NADPH--cytochrome P450 reductase ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624740:14,739,458...14,790,736
Ensembl chrNW_004624740:14,733,427...14,791,065 		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 chrNW_004624739:27,132,533...28,430,765
Ensembl chrNW_004624739:27,134,993...28,430,686 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624740:14,837,699...14,850,126
Ensembl chrNW_004624740:14,837,023...14,850,988 		JBrowse link
G Phtf2 putative homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624739:26,965,769...27,070,808
Ensembl chrNW_004624739:26,981,590...27,070,866 		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 chrNW_004624739:26,747,830...26,828,535 JBrowse link
G Rcc1l RCC1 like ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624740:13,365,571...13,381,197
Ensembl chrNW_004624740:13,365,437...13,384,611 		JBrowse link
G Rhbdd2 rhomboid domain containing 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624740:14,698,769...14,709,994
Ensembl chrNW_004624740:14,698,665...14,712,382 		JBrowse link
G Rsbn1l round spermatid basic protein 1 like ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624739:26,873,245...26,954,038
Ensembl chrNW_004624739:26,873,588...26,950,361 		JBrowse link
G Srrm3 serine/arginine repetitive matrix 3 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624740:14,873,340...14,929,023
Ensembl chrNW_004624740:14,873,396...14,929,008 		JBrowse link
G Ssc4d scavenger receptor cysteine rich family member with 4 domains ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624740:15,018,542...15,030,954
Ensembl chrNW_004624740:15,018,696...15,028,465 		JBrowse link
G Styxl1 serine/threonine/tyrosine interacting like 1 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624740:14,797,853...14,837,690
Ensembl chrNW_004624740:14,797,868...14,837,668 		JBrowse link
G Tmem120a transmembrane protein 120A ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624740:14,790,876...14,796,673
Ensembl chrNW_004624740:14,790,876...14,796,635 		JBrowse link
G Tmem60 transmembrane protein 60 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624739:26,961,771...26,965,617
Ensembl chrNW_004624739:26,961,771...26,965,547 		JBrowse link
G Upk3b uroplakin 3B ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624740:15,100,978...15,106,141
Ensembl chrNW_004624740:15,101,170...15,106,141 		JBrowse link
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624740:14,960,105...14,995,522
Ensembl chrNW_004624740:14,959,089...14,995,548 		JBrowse link
G Zp3 zona pellucida glycoprotein 3 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004624740:15,037,818...15,044,207
Ensembl chrNW_004624740:15,037,943...15,044,193 		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 chrNW_004624736:9,428,736...9,494,645 JBrowse link
G Brd10 bromodomain containing 10 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:10,536,272...10,618,341
Ensembl chrNW_004624736:10,533,571...10,618,259 		JBrowse link
G Cd274 CD274 molecule ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814 		JBrowse link
G Cdc37l1 cell division cycle 37 like 1, HSP90 cochaperone ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:9,435,450...9,466,248
Ensembl chrNW_004624736:9,435,467...9,466,236 		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 chrNW_004624736:5,525,417...5,641,612
Ensembl chrNW_004624736:5,525,408...5,645,636 		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 chrNW_004624736:5,721,984...5,730,558
Ensembl chrNW_004624736:5,722,404...5,730,633 		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 chrNW_004624736:5,648,318...5,662,301
Ensembl chrNW_004624736:5,648,318...5,661,584 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:4,959,482...5,195,182
Ensembl chrNW_004624736:4,959,634...5,193,928 		JBrowse link
G Ermp1 endoplasmic reticulum metallopeptidase 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:10,311,868...10,393,851
Ensembl chrNW_004624736:10,345,718...10,394,356 		JBrowse link
G Foxd4 forkhead box D4 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:4,872,270...4,874,153 JBrowse link
G Frem1 FRAS1 related extracellular matrix 1 ISO OMIM:158170 MouseDO NCBI chrNW_004624736:18,975,104...19,346,159
Ensembl chrNW_004624736:18,989,320...19,132,416 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:11,022,691...11,133,950
Ensembl chrNW_004624736:11,022,691...11,134,377 		JBrowse link
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:8,552,143...9,030,122
Ensembl chrNW_004624736:8,555,916...9,004,996 		JBrowse link
G Il33 interleukin 33 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864 		JBrowse link
G Insl6 insulin like 6 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:9,838,781...9,848,514 JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:9,724,876...9,827,364
Ensembl chrNW_004624736:9,724,369...9,830,365 		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 chrNW_004624736:5,260,761...5,444,234
Ensembl chrNW_004624736:5,379,728...5,444,234 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:7,405,697...7,419,364
Ensembl chrNW_004624736:7,407,367...7,418,577 		JBrowse link
G Kdm4c lysine demethylase 4C ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:11,254,125...11,711,498
Ensembl chrNW_004624736:11,382,598...11,711,536 		JBrowse link
G Mlana melan-A ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:10,512,358...10,529,888
Ensembl chrNW_004624736:10,468,485...10,531,910 		JBrowse link
G Pdcd1lg2 programmed cell death 1 ligand 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:10,049,428...10,056,849 JBrowse link
G Plgrkt plasminogen receptor with a C-terminal lysine ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:9,908,482...9,968,771
Ensembl chrNW_004624736:9,906,633...9,969,183 		JBrowse link
G Ptprd protein tyrosine phosphatase receptor type D ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:12,874,884...13,558,030
Ensembl chrNW_004624736:12,874,706...13,278,956 		JBrowse link
G Pum3 pumilio RNA binding family member 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:7,501,432...7,536,990 JBrowse link
G Ranbp6 RAN binding protein 6 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:10,621,080...10,625,825
Ensembl chrNW_004624736:10,622,339...10,625,656 		JBrowse link
G Rcl1 RNA terminal phosphate cyclase like 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:9,545,580...9,609,897
Ensembl chrNW_004624736:9,545,433...9,609,887 		JBrowse link
G Rfx3 regulatory factor X3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:8,001,078...8,301,856
Ensembl chrNW_004624736:8,003,234...8,161,150 		JBrowse link
G Ric1 RIC1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:10,161,772...10,337,585 JBrowse link
G Rln2 relaxin 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:9,886,285...9,891,887
Ensembl chrNW_004624736:9,886,148...9,891,191 		JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:9,246,348...9,325,671
Ensembl chrNW_004624736:9,246,262...9,325,485 		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 chrNW_004624736:6,681,491...6,863,403
Ensembl chrNW_004624736:6,695,658...6,865,809 		JBrowse link
G Spata6l spermatogenesis associated 6 like ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:9,340,041...9,416,725
Ensembl chrNW_004624736:9,337,024...9,416,684 		JBrowse link
G Uhrf2 ubiquitin like with PHD and ring finger domains 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:10,901,260...11,004,832
Ensembl chrNW_004624736:10,913,643...11,003,525 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:7,280,478...7,316,897
Ensembl chrNW_004624736:7,280,490...7,316,946 		JBrowse link
G Washc1 WASH complex subunit 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624828:249,994...269,347 JBrowse link
G Zng1a Zn regulated GTPase metalloprotein activator 1A ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624736:4,878,241...4,934,000 JBrowse link
Chromosome Deletion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad51d RAD51 paralog D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27924006 NCBI chrNW_004624875:2,972,739...2,987,360
Ensembl chrNW_004624875:2,972,678...2,987,344 		JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO RGD PMID:12920066 RGD:1599213 NCBI chrNW_004624752:72,545...127,321
Ensembl chrNW_004624752:72,615...127,325 		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 chrNW_004624751:624,569...647,198 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 chrNW_004624849:3,283,180...3,345,456
Ensembl chrNW_004624849:3,284,085...3,344,759 		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 ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:19344877 PMID:24033266 PMID:25741868 NCBI chrNW_004624731:9,707,912...9,721,239 JBrowse link
G Ckmt1a creatine kinase, mitochondrial 1A ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chrNW_004624804:10,680,595...10,689,212
Ensembl chrNW_004624804:10,681,210...10,689,212 		JBrowse link
G Pdia3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chrNW_004624804:10,754,978...10,784,641
Ensembl chrNW_004624804:10,755,103...10,784,337 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chrNW_004624804:10,633,142...10,680,089
Ensembl chrNW_004624804:10,633,142...10,680,084 		JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 More... NCBI chrNW_004624838:2,894,945...2,913,030
Ensembl chrNW_004624838:2,896,147...2,910,268 		JBrowse link
DiGeorge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm3 AIF family member 3 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:710,562...724,699
Ensembl chrNW_004624945:710,820...722,621 		JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family member A2 ISO OMIM:188400 RGD
MouseDO		 PMID:12563036 RGD:734550 NCBI chrNW_004624781:13,756,469...13,845,253
Ensembl chrNW_004624781:13,756,390...13,845,479 		JBrowse link
G Arvcf ARVCF delta catenin family member ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:590,293...643,797
Ensembl chrNW_004624747:591,891...610,988 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:9,528,968...9,664,055
Ensembl chrNW_004624747:9,528,996...9,662,131 		JBrowse link
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,183,749...1,190,645 JBrowse link
G Ccdc188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chrNW_004624747:756,298...759,056 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 chrNW_004624747:132,731...161,590
Ensembl chrNW_004624747:132,835...161,553 		JBrowse link
G Chrd chordin ISO OMIM:188400 MouseDO NCBI chrNW_004624730:72,201,239...72,209,843
Ensembl chrNW_004624730:72,201,644...72,209,843 		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 chrNW_004624747:164,113...166,502
Ensembl chrNW_004624747:164,761...165,417 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:734,532...767,184
Ensembl chrNW_004624945:734,532...767,168 		JBrowse link
G CUNH22orf39 chromosome unknown C22orf39 homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:101,938...109,335
Ensembl chrNW_004624747:103,310...107,382 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:204,374...295,551
Ensembl chrNW_004624945:204,133...297,341 		JBrowse link
G Dgcr6l DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:905,239...910,562 JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:689,751...722,266
Ensembl chrNW_004624747:689,955...722,266 		JBrowse link
G Dicer1 dicer 1, ribonuclease III ISO OMIM:188400 MouseDO NCBI chrNW_004624734:7,604,049...7,681,481
Ensembl chrNW_004624734:7,608,273...7,651,819 		JBrowse link
G Dock1 dedicator of cytokinesis 1 ISO OMIM:188400 MouseDO NCBI chrNW_004624737:19,575,012...20,105,406
Ensembl chrNW_004624737:19,574,948...20,105,265 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO RGD PMID:8644734 RGD:1580898 NCBI chrNW_004624818:8,267,111...8,283,755
Ensembl chrNW_004624818:8,267,128...8,278,725 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:176,773...187,586
Ensembl chrNW_004624945:176,678...188,040 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism
OMIM:188400		 CTD
MouseDO		 PMID:16399080 NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741 		JBrowse link
G Foxn1 forkhead box N1 ISO OMIM:188400 MouseDO NCBI chrNW_004624786:1,114,305...1,127,787
Ensembl chrNW_004624786:1,114,305...1,127,683 		JBrowse link
G Gnaz G protein subunit alpha z ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:9,425,720...9,479,571
Ensembl chrNW_004624747:9,425,775...9,480,162 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:418,912...489,057
Ensembl chrNW_004624747:418,519...489,529 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:352,129...354,173
Ensembl chrNW_004624747:352,165...354,170 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:172,345...176,453
Ensembl chrNW_004624945:172,345...176,191 		JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,065,864...1,096,164
Ensembl chrNW_004624747:1,067,927...1,092,757 		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 chrNW_004624747:12,717,713...12,746,040
Ensembl chrNW_004624747:12,717,707...12,746,724 		JBrowse link
G Hoxa3 homeobox A3 ISO OMIM:188400 MouseDO NCBI chrNW_004624739:3,453,358...3,498,061
Ensembl chrNW_004624739:3,478,406...3,498,333 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO OMIM:188400 RGD
MouseDO		 PMID:22921202 RGD:9590333 NCBI chrNW_004624780:1,237,326...1,378,718
Ensembl chrNW_004624780:1,240,292...1,376,072 		JBrowse link
G Klhl22 kelch like family member 22 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:409,093...446,619
Ensembl chrNW_004624945:408,999...441,975 		JBrowse link
G LOC101713307 protein HIRA 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 chrNW_004624747:9...95,643 JBrowse link
G Lrrc74b leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chrNW_004624945:656,956...685,824
Ensembl chrNW_004624945:656,983...670,865 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,296,062...1,389,674
Ensembl chrNW_004624747:1,296,221...1,389,757 		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 chrNW_004624945:488,396...562,084 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 chrNW_004624735:9,332,637...9,545,164
Ensembl chrNW_004624735:9,332,682...9,545,157 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:96,411...99,490
Ensembl chrNW_004624747:96,418...100,913 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO OMIM:188400 MouseDO NCBI chrNW_004624774:9,758,459...9,821,309
Ensembl chrNW_004624774:9,758,809...9,821,309 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:31690835 PMID:32581362 NCBI chrNW_004624945:646,361...687,901
Ensembl chrNW_004624945:648,499...656,075 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624735:9,248,065...9,262,975
Ensembl chrNW_004624735:9,251,046...9,263,199 		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 chrNW_004624945:837,877...1,016,041
Ensembl chrNW_004624945:837,864...1,014,684 		JBrowse link
G Plxnd1 plexin D1 ISO OMIM:188400 MouseDO NCBI chrNW_004624872:542,776...571,019
Ensembl chrNW_004624872:543,553...571,019 		JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,221,703...1,248,398
Ensembl chrNW_004624747:1,221,631...1,248,391 		JBrowse link
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent 1F ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,417,004...1,446,211
Ensembl chrNW_004624747:1,420,835...1,446,143 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222 		JBrowse link
G Rab36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:9,504,525...9,521,315
Ensembl chrNW_004624747:9,506,138...9,519,176 		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 chrNW_004624747:728,123...736,045
Ensembl chrNW_004624747:728,014...736,043 		JBrowse link
G Rimbp3c RIMS binding protein 3C ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,110,596...1,115,995 JBrowse link
G Rsph14 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:9,416,411...9,504,561
Ensembl chrNW_004624747:9,416,373...9,502,716 		JBrowse link
G Rtl10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:484,995...486,791 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 chrNW_004624747:829,947...855,942
Ensembl chrNW_004624747:829,850...855,991 		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 chrNW_004624945:392,615...404,961
Ensembl chrNW_004624945:393,412...404,958 		JBrowse link
G Sdf2l1 stromal cell derived factor 2 like 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,195,043...1,197,105
Ensembl chrNW_004624747:1,195,055...1,197,105 		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:25516202 PMID:28492532 NCBI chrNW_004624747:343,940...352,016
Ensembl chrNW_004624747:343,934...353,561 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:919,639...932,515
Ensembl chrNW_004624945:915,789...932,515 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:155,596...159,042
Ensembl chrNW_004624945:155,604...159,667 		JBrowse link
G Slc7a4 solute carrier family 7 member 4 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:31690835 PMID:32581362 NCBI chrNW_004624945:642,082...646,247
Ensembl chrNW_004624945:642,432...646,231 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:799,831...837,720
Ensembl chrNW_004624945:801,833...837,564 		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 chrNW_004624747:9,687,369...9,837,344
Ensembl chrNW_004624747:9,705,081...9,837,535 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:647,571...686,870 JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge 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 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		 OMIM
ClinVar		 PMID:9536098 PMID:11239417 PMID:11242049 PMID:11748311 PMID:14585638 More... NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098 		JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO OMIM:188400 MouseDO NCBI chrNW_004624788:8,447,679...8,535,821
Ensembl chrNW_004624788:8,447,542...8,535,959 		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 chrNW_004624945:687,941...690,480
Ensembl chrNW_004624945:688,185...690,480 		JBrowse link
G Top3b DNA topoisomerase III beta ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,450,236...1,473,467
Ensembl chrNW_004624747:1,446,412...1,473,600 		JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:25197075 RGD:155641238 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:722,901...727,979
Ensembl chrNW_004624747:722,607...727,947 		JBrowse link
G Tuba8 tubulin alpha 8 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624735:9,211,458...9,229,909
Ensembl chrNW_004624735:9,211,152...9,230,303 		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 chrNW_004624747:485,012...569,175
Ensembl chrNW_004624747:514,158...569,154 		JBrowse link
G Ube2l3 ubiquitin conjugating enzyme E2 L3 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,125,009...1,178,595
Ensembl chrNW_004624747:1,125,022...1,177,524 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:110,090...132,145
Ensembl chrNW_004624747:110,090...132,097 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624735:9,158,597...9,187,503 JBrowse link
G Vegfa vascular endothelial growth factor A ISO OMIM:188400 MouseDO NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,181,617...1,183,581
Ensembl chrNW_004624747:1,181,956...1,183,485 		JBrowse link
G Ypel1 yippee like 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:1,248,026...1,274,909
Ensembl chrNW_004624747:1,248,026...1,274,869 		JBrowse link
G Zdhhc8 zDHHC palmitoyltransferase 8 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624747:740,352...755,891
Ensembl chrNW_004624747:739,594...754,989 		JBrowse link
G Znf280a zinc finger protein 280A ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:8,841,993...8,848,484 JBrowse link
G Znf280b zinc finger protein 280B ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004624747:8,816,707...8,835,136
Ensembl chrNW_004624747:8,819,889...8,821,529 		JBrowse link
G Znf366 zinc finger protein 366 ISO OMIM:188400 MouseDO NCBI chrNW_004624905:1,523,205...1,590,722
Ensembl chrNW_004624905:1,526,693...1,544,301 		JBrowse link
G Znf74 zinc finger protein 74 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004624945:356,794...367,202 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 chrNW_004624796:7,133,915...7,498,706
Ensembl chrNW_004624796:7,133,923...7,493,673 		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 chrNW_004624737:20,650,365...21,107,171
Ensembl chrNW_004624737:20,650,427...21,065,944 		JBrowse link
G Adam8 ADAM metallopeptidase domain 8 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:13,459,274...13,474,686 JBrowse link
G Adgra1 adhesion G protein-coupled receptor A1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:13,614,946...13,653,320
Ensembl chrNW_004624737:13,613,762...13,653,885 		JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:14,848,355...14,863,731
Ensembl chrNW_004624737:14,848,350...14,862,965 		JBrowse link
G Caly calcyon neuron specific vesicular protein ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:13,359,520...13,368,948
Ensembl chrNW_004624737:13,358,986...13,368,967 		JBrowse link
G Cfap46 cilia and flagella associated protein 46 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:13,897,146...14,021,257
Ensembl chrNW_004624737:13,897,221...14,015,533 		JBrowse link
G Clrn3 clarin 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:19,140,954...19,154,709
Ensembl chrNW_004624737:19,140,907...19,156,308 		JBrowse link
G CUNH10orf90 chromosome unknown C10orf90 homolog ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:20,519,983...20,638,786
Ensembl chrNW_004624737:20,361,942...20,613,761 		JBrowse link
G Dhx32 DEAH-box helicase 32 (putative) ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:21,264,759...21,326,688
Ensembl chrNW_004624737:21,269,872...21,326,855 		JBrowse link
G Dock1 dedicator of cytokinesis 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:19,575,012...20,105,406
Ensembl chrNW_004624737:19,574,948...20,105,265 		JBrowse link
G Dpysl4 dihydropyrimidinase like 4 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:14,606,176...14,623,498
Ensembl chrNW_004624737:14,606,176...14,623,490 		JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:17,069,676...17,201,481
Ensembl chrNW_004624737:17,078,683...17,201,536 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:13,329,052...13,338,358
Ensembl chrNW_004624737:13,328,904...13,338,366 		JBrowse link
G Fank1 fibronectin type III and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:21,074,992...21,269,834
Ensembl chrNW_004624737:21,075,001...21,269,757 		JBrowse link
G Foxi2 forkhead box I2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:19,269,071...19,270,718
Ensembl chrNW_004624737:19,269,115...19,270,718 		JBrowse link
G Fuom fucose mutarotase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:13,341,094...13,343,834
Ensembl chrNW_004624737:13,338,974...13,346,986 		JBrowse link
G Glrx3 glutaredoxin 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:16,906,135...16,938,089
Ensembl chrNW_004624737:16,905,964...16,938,048 		JBrowse link
G Inpp5a inositol polyphosphate-5-phosphatase A ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:14,048,696...14,300,960
Ensembl chrNW_004624737:14,047,264...14,300,946 		JBrowse link
G Insyn2a inhibitory synaptic factor 2A ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:19,826,903...19,884,494
Ensembl chrNW_004624737:19,827,461...19,885,070 		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 chrNW_004624737:14,626,402...14,775,749
Ensembl chrNW_004624737:14,643,770...14,744,107 		JBrowse link
G Kndc1 kinase non-catalytic C-lobe domain containing 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:13,516,881...13,577,795
Ensembl chrNW_004624737:13,518,818...13,577,762 		JBrowse link
G LOC101722366 cytochrome P450 2E1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:12,335,733...12,345,278
Ensembl chrNW_004624737:12,335,681...12,345,514 		JBrowse link
G Lrrc27 leucine rich repeat containing 27 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:14,454,767...14,487,622 JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:17,271,881...17,619,123
Ensembl chrNW_004624737:17,271,992...17,528,889 		JBrowse link
G Mki67 marker of proliferation Ki-67 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:18,935,686...18,963,907 JBrowse link
G Mtg1 mitochondrial ribosome associated GTPase 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:13,297,687...13,310,598
Ensembl chrNW_004624737:13,298,236...13,310,747 		JBrowse link
G Nkx6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:14,045,402...14,047,005
Ensembl chrNW_004624737:14,045,640...14,048,786 		JBrowse link
G Nps neuropeptide S ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:19,447,495...19,451,005 JBrowse link
G Paox polyamine oxidase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:13,312,728...13,324,559
Ensembl chrNW_004624737:13,312,201...13,324,559 		JBrowse link
G Ppp2r2d protein phosphatase 2 regulatory subunit Bdelta ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:14,873,129...14,920,886
Ensembl chrNW_004624737:14,873,129...14,920,804 		JBrowse link
G Prap1 proline rich acidic protein 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:13,346,621...13,350,428
Ensembl chrNW_004624737:13,343,674...13,351,284 		JBrowse link
G Ptpre protein tyrosine phosphatase receptor type E ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:18,977,142...19,129,112
Ensembl chrNW_004624737:18,977,042...19,020,284 		JBrowse link
G Pwwp2b PWWP domain containing 2B ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:14,420,293...14,442,969
Ensembl chrNW_004624737:14,419,670...14,442,933 		JBrowse link
G Sprn shadow of prion protein ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:13,293,202...13,297,559
Ensembl chrNW_004624737:13,293,252...13,297,764 		JBrowse link
G Stk32c serine/threonine kinase 32C ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:14,511,025...14,606,319
Ensembl chrNW_004624737:14,511,054...14,605,626 		JBrowse link
G Syce1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:12,290,317...12,297,823
Ensembl chrNW_004624737:12,290,276...12,297,924 		JBrowse link
G Tcerg1l transcription elongation regulator 1 like ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:15,644,238...15,868,287
Ensembl chrNW_004624737:15,644,238...15,868,364 		JBrowse link
G Tubgcp2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:13,436,046...13,459,101 JBrowse link
G Utf1 undifferentiated embryonic cell transcription factor 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:13,512,558...13,513,923 JBrowse link
G Ventx VENT homeobox ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:13,415,558...13,416,906 JBrowse link
G Znf511 zinc finger protein 511 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004624737:13,428,543...13,436,072
Ensembl chrNW_004624737:13,432,606...13,436,008 		JBrowse link
Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca5 ATP binding cassette subfamily A member 5 ISO ClinVar Annotator: match by term: ABCA5-related condition | ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis OMIM
ClinVar		 PMID:24831815 PMID:25741868 PMID:28492532 NCBI chrNW_004624870:4,150,287...4,224,448
Ensembl chrNW_004624870:4,153,594...4,218,132 		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 OMIM
ClinVar		 PMID:16951683 PMID:19098912 PMID:21145788 PMID:21309036 PMID:23462293 More... NCBI chrNW_004624738:28,755,039...28,770,160
Ensembl chrNW_004624738:28,754,602...28,770,758 		JBrowse link
Holoprosencephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624732:24,159,407...24,381,495
Ensembl chrNW_004624732:24,159,312...24,328,452 		JBrowse link
hypoparathyroidism-deafness-renal disease syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd7 acyl-CoA binding domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:466,140...472,588 JBrowse link
G Ankrd16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624775:772,192...788,276
Ensembl chrNW_004624775:772,908...787,505 		JBrowse link
G Arl5b ARF like GTPase 5B ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624796:9,406,205...9,433,125
Ensembl chrNW_004624796:9,411,703...9,437,989 		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 chrNW_004624775:497,711...514,963
Ensembl chrNW_004624775:499,426...514,934 		JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624775:2,745,556...2,765,269
Ensembl chrNW_004624775:2,744,731...2,768,373 		JBrowse link
G Bend7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:1,685,004...1,792,413
Ensembl chrNW_004624805:1,686,099...1,765,766 		JBrowse link
G C1ql3 complement C1q like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624796:11,239,297...11,246,800
Ensembl chrNW_004624796:11,239,077...11,248,111 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624796:9,502,132...9,858,836
Ensembl chrNW_004624796:9,503,452...9,859,019 		JBrowse link
G Calml3 calmodulin like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624775:335,860...338,267
Ensembl chrNW_004624775:337,054...337,503 		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 chrNW_004624805:5,047,885...5,413,264
Ensembl chrNW_004624805:5,193,397...5,408,011 		JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:5,465,699...5,574,837
Ensembl chrNW_004624805:5,465,001...5,574,291 		JBrowse link
G Cdc123 cell division cycle 123 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:4,922,912...4,983,104
Ensembl chrNW_004624805:4,922,677...4,983,629 		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 chrNW_004624775:6,017,713...6,557,684
Ensembl chrNW_004624775:6,017,817...6,557,684 		JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624796:10,728,853...10,987,292
Ensembl chrNW_004624796:10,728,983...10,988,361 		JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:555,444...593,548
Ensembl chrNW_004624805:555,545...592,250 		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 chrNW_004624805:4,814,444...4,871,097
Ensembl chrNW_004624805:4,814,546...4,869,359 		JBrowse link
G Echdc3 enoyl-CoA hydratase domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624775:6,930,762...6,956,295
Ensembl chrNW_004624775:6,930,693...6,959,970 		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 chrNW_004624805:710,564...898,976 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 chrNW_004624805:203,234...344,205
Ensembl chrNW_004624805:203,496...346,101 		JBrowse link
G Fbh1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624775:788,388...844,968
Ensembl chrNW_004624775:788,463...837,524 		JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:1,072,327...1,593,563
Ensembl chrNW_004624805:1,073,132...1,590,661 		JBrowse link
G Gata3 GATA binding protein 3 ISO ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome OMIM
ClinVar		 PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 More... NCBI chrNW_004624775:2,985,077...3,014,567
Ensembl chrNW_004624775:2,994,164...3,015,392 		JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624775:594,477...622,592
Ensembl chrNW_004624775:594,472...622,592 		JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624796:10,295,957...10,315,222
Ensembl chrNW_004624796:10,295,993...10,313,108 		JBrowse link
G Hspa14 heat shock protein family A (Hsp70) member 14 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:623,223...660,974
Ensembl chrNW_004624805:623,149...660,922 		JBrowse link
G Il15ra interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624775:846,063...877,894
Ensembl chrNW_004624775:847,677...877,604 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624775:927,337...991,062
Ensembl chrNW_004624775:924,648...942,354 		JBrowse link
G Itga8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624796:11,908,927...12,103,806
Ensembl chrNW_004624796:11,908,964...12,101,139 		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 chrNW_004624775:2,667,840...2,706,951
Ensembl chrNW_004624775:2,667,781...2,707,046 		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 chrNW_004624775:2,526,161...2,620,857
Ensembl chrNW_004624775:2,533,067...2,620,896 		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 chrNW_004624775:2,715,748...2,745,524
Ensembl chrNW_004624775:2,716,150...2,745,442 		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 chrNW_004624805:5,728,781...5,766,796
Ensembl chrNW_004624805:5,728,569...5,765,862 		JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:533,195...547,600
Ensembl chrNW_004624805:533,089...547,489 		JBrowse link
G Mindy3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624796:11,778,932...11,862,882
Ensembl chrNW_004624796:11,778,201...11,863,318 		JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624775:223,832...260,623
Ensembl chrNW_004624775:224,297...262,630 		JBrowse link
G Nmt2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:408,378...457,887 JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624796:9,433,005...9,539,757
Ensembl chrNW_004624796:9,438,338...9,501,296 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:4,903,250...4,922,719
Ensembl chrNW_004624805:4,903,373...4,915,846 		JBrowse link
G Olah oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:476,106...494,612
Ensembl chrNW_004624805:476,612...495,158 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:5,683,095...5,717,558
Ensembl chrNW_004624805:5,683,021...5,721,336 		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 chrNW_004624775:1,092,018...1,173,848
Ensembl chrNW_004624775:1,145,797...1,169,858 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:5,801,392...5,813,696 JBrowse link
G Prkcq protein kinase C theta ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624775:1,419,596...1,543,805
Ensembl chrNW_004624775:1,419,509...1,502,064 		JBrowse link
G Proser2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624775:7,069,053...7,104,209
Ensembl chrNW_004624775:7,069,196...7,104,975 		JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:1,593,697...1,635,987
Ensembl chrNW_004624805:1,602,782...1,637,099 		JBrowse link
G Pter phosphotriesterase related ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624796:11,248,274...11,301,801
Ensembl chrNW_004624796:11,245,391...11,298,947 		JBrowse link
G Rbm17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624775:1,041,666...1,067,195
Ensembl chrNW_004624775:1,041,348...1,071,194 		JBrowse link
G Rpp38 ribonuclease P/MRP subunit p38 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:456,432...460,906
Ensembl chrNW_004624805:453,703...460,430 		JBrowse link
G Rsu1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624796:10,994,043...11,183,091
Ensembl chrNW_004624796:10,994,062...11,183,562 		JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:4,873,523...4,901,907
Ensembl chrNW_004624805:4,873,506...4,901,907 		JBrowse link
G Sephs1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:1,850,796...1,878,024
Ensembl chrNW_004624805:1,851,337...1,873,731 		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 chrNW_004624775:2,151,927...2,386,949 JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624796:9,940,228...10,008,526
Ensembl chrNW_004624796:9,940,176...10,008,234 		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 chrNW_004624796:10,383,947...10,577,117
Ensembl chrNW_004624796:10,458,466...10,570,959 		JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624796:10,195,897...10,269,311
Ensembl chrNW_004624796:10,201,518...10,269,311 		JBrowse link
G Suv39h2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624805:594,986...619,115
Ensembl chrNW_004624805:597,406...618,969 		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 chrNW_004624775:2,791,406...2,958,886
Ensembl chrNW_004624775:2,791,610...2,959,236 		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 chrNW_004624775:612,758...698,067
Ensembl chrNW_004624775:625,515...697,534 		JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624796:10,630,982...10,712,689
Ensembl chrNW_004624796:10,656,432...10,710,124 		JBrowse link
G Tubal3 tubulin alpha like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624796:102,139...123,446
Ensembl chrNW_004624796:115,091...123,436 		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 chrNW_004624805:5,775,019...5,781,957
Ensembl chrNW_004624805:5,775,019...5,781,957 		JBrowse link
G Ucn3 urocortin 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624796:130,924...131,886 JBrowse link
G Upf2 UPF2 regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624775:7,142,411...7,249,637 JBrowse link
G Usp6nl USP6 N-terminal like ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624775:6,662,824...6,876,708
Ensembl chrNW_004624775:6,670,563...6,811,235 		JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004624796:10,624,672...10,632,300
Ensembl chrNW_004624796:10,623,929...10,632,600 		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 CTD Direct Evidence: marker/mechanism
OMIM:606407		 CTD
MouseDO		 PMID:26247364 NCBI chrNW_004624738:25,835,123...26,251,254
Ensembl chrNW_004624738:25,835,163...26,250,729 		JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chrNW_004624738:25,657,084...25,738,913
Ensembl chrNW_004624738:25,656,755...25,723,236 		JBrowse link
G Prepl prolyl endopeptidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chrNW_004624738:25,802,156...25,835,663
Ensembl chrNW_004624738:25,802,793...25,834,762 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chrNW_004624738:25,762,064...25,802,407
Ensembl chrNW_004624738:25,768,573...25,802,716 		JBrowse link
Jacobsen Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad8 acyl-CoA dehydrogenase family member 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:8,810,597...8,828,664
Ensembl chrNW_004624812:8,814,004...8,827,944 		JBrowse link
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:1,645,923...1,653,291 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 chrNW_004624812:4,814,753...4,839,843
Ensembl chrNW_004624812:4,814,644...4,839,944 		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 chrNW_004624812:4,775,240...4,795,841 JBrowse link
G Aplp2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:4,490,798...4,571,500
Ensembl chrNW_004624812:4,490,798...4,571,623 		JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:3,278,564...3,474,004
Ensembl chrNW_004624812:3,282,299...3,597,436 		JBrowse link
G B3gat1 beta-1,3-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:9,013,676...9,039,935
Ensembl chrNW_004624812:9,013,354...9,039,966 		JBrowse link
G Barx2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:3,720,302...3,802,630
Ensembl chrNW_004624812:3,720,303...3,802,701 		JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:963,083...1,105,668
Ensembl chrNW_004624927:962,958...1,084,156 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:107,632...203,791
Ensembl chrNW_004624812:109,405...203,519 		JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:1,609,404...1,643,409
Ensembl chrNW_004624927:1,610,878...1,643,409 		JBrowse link
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:456,758...499,262
Ensembl chrNW_004624812:456,812...500,015 		JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:53,129...74,073
Ensembl chrNW_004624812:52,368...74,149 		JBrowse link
G Ei24 EI24 autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:1,548,544...1,566,108 JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:2,795,961...2,920,263
Ensembl chrNW_004624812:2,795,686...2,920,274 		JBrowse link
G Fam118b family with sequence similarity 118 member B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:366,432...416,408
Ensembl chrNW_004624812:366,476...416,408 		JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:1,470,218...1,512,780
Ensembl chrNW_004624927:1,469,025...1,512,790 		JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: 11q partial monosomy syndrome | ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:15798196 PMID:24100448 PMID:25741868 PMID:28255014 PMID:28492532 More... NCBI chrNW_004624812:3,004,631...3,138,901
Ensembl chrNW_004624812:3,004,628...3,139,101 		JBrowse link
G Foxred1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:423,000...429,660
Ensembl chrNW_004624812:423,109...433,466 		JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:922,272...939,429
Ensembl chrNW_004624927:919,908...939,762 		JBrowse link
G Hyls1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:37,055...49,908
Ensembl chrNW_004624812:36,963...51,411 		JBrowse link
G Igsf9b immunoglobulin superfamily member 9B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:8,436,525...8,514,435
Ensembl chrNW_004624812:8,470,958...8,514,368 		JBrowse link
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:8,644,002...8,707,257
Ensembl chrNW_004624812:8,643,921...8,707,351 		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 chrNW_004624812:3,160,684...3,192,323
Ensembl chrNW_004624812:3,160,693...3,193,595 		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 chrNW_004624812:3,213,619...3,243,514
Ensembl chrNW_004624812:3,213,774...3,244,012 		JBrowse link
G Kirrel3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:561,290...1,158,012
Ensembl chrNW_004624812:562,308...1,154,934 		JBrowse link
G LOC101717337 olfactory receptor 8A1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:566,203...567,135
Ensembl chrNW_004624927:566,206...567,135 		JBrowse link
G Msantd2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:784,325...816,691
Ensembl chrNW_004624927:783,482...817,427 		JBrowse link
G Ncapd3 non-SMC condensin II complex subunit D3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:8,708,061...8,782,282
Ensembl chrNW_004624812:8,709,735...8,782,200 		JBrowse link
G Nfrkb nuclear factor related to kappaB binding protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:4,248,077...4,282,948
Ensembl chrNW_004624812:4,249,350...4,280,182 		JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:753,967...762,663
Ensembl chrNW_004624927:753,956...762,662 		JBrowse link
G Ntm neurotrimin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:5,834,367...6,812,623
Ensembl chrNW_004624812:5,834,748...6,812,837 		JBrowse link
G Opcml opioid binding protein/cell adhesion molecule like ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:6,852,568...8,042,583
Ensembl chrNW_004624812:6,875,314...8,042,482 		JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:612,686...621,282
Ensembl chrNW_004624927:612,750...620,564 		JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:1,197,610...1,459,777
Ensembl chrNW_004624927:1,275,956...1,460,170 		JBrowse link
G Prdm10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:4,283,179...4,389,520
Ensembl chrNW_004624812:4,287,749...4,390,020 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:41,234...52,962
Ensembl chrNW_004624812:41,652...52,973 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:872,197...887,316
Ensembl chrNW_004624927:872,197...887,079 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:888,421...903,657
Ensembl chrNW_004624927:888,141...903,659 		JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:311,912...366,427
Ensembl chrNW_004624812:359,184...366,872 		JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:636,134...678,367
Ensembl chrNW_004624927:637,175...678,780 		JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:1,106,050...1,132,050
Ensembl chrNW_004624927:1,106,367...1,131,730 		JBrowse link
G Snx19 sorting nexin 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:5,328,091...5,381,537
Ensembl chrNW_004624812:5,329,460...5,381,593 		JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:678,390...691,963
Ensembl chrNW_004624927:678,260...691,797 		JBrowse link
G Spata19 spermatogenesis associated 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:8,430,604...8,435,215
Ensembl chrNW_004624812:8,430,242...8,435,112 		JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:416,727...422,820
Ensembl chrNW_004624812:416,727...422,823 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:4,584,043...4,620,410
Ensembl chrNW_004624812:4,583,946...4,620,547 		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 chrNW_004624812:503,703...551,907
Ensembl chrNW_004624812:509,841...553,894 		JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:1,577,504...1,608,328
Ensembl chrNW_004624927:1,577,534...1,606,596 		JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:622,865...632,243
Ensembl chrNW_004624927:623,175...632,243 		JBrowse link
G Thyn1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:8,805,196...8,810,559
Ensembl chrNW_004624812:8,805,196...8,810,582 		JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:433,540...445,517
Ensembl chrNW_004624812:439,319...446,646 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:1,137,223...1,163,880
Ensembl chrNW_004624927:1,136,636...1,163,757 		JBrowse link
G Tmem45b transmembrane protein 45B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:4,212,349...4,247,107
Ensembl chrNW_004624812:4,212,595...4,247,107 		JBrowse link
G Vps26b VPS26, retromer complex component B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:8,783,350...8,804,755
Ensembl chrNW_004624812:8,783,378...8,804,753 		JBrowse link
G Vsig2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624927:762,912...768,914
Ensembl chrNW_004624927:762,967...768,066 		JBrowse link
G Zbtb44 zinc finger and BTB domain containing 44 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004624812:4,631,468...4,694,218 JBrowse link
Kleefstra syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chrNW_004624760:880,216...898,753
Ensembl chrNW_004624760:880,148...898,751 		JBrowse link
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:21344641 PMID:22610116 PMID:23307537 PMID:25590979 PMID:25741868 More... NCBI chrNW_004624752:16,792,202...16,926,552
Ensembl chrNW_004624752:16,792,165...16,927,293 		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 chrNW_004624760:1,865,474...1,889,394
Ensembl chrNW_004624760:1,865,376...1,889,203 		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 chrNW_004624760:1,948,302...1,977,459
Ensembl chrNW_004624760:1,949,907...1,976,894 		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 chrNW_004624760:1,746,642...1,755,154
Ensembl chrNW_004624760:1,747,081...1,755,113 		JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chrNW_004624760:1,002,860...1,008,527
Ensembl chrNW_004624760:1,001,590...1,007,530 		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 chrNW_004624760:760,815...772,116
Ensembl chrNW_004624760:760,749...772,855 		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 chrNW_004624760:464,914...475,070
Ensembl chrNW_004624760:468,069...475,070 		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 chrNW_004624760:2,220,019...2,247,322
Ensembl chrNW_004624760:2,221,472...2,247,388 		JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chrNW_004624760:937,871...939,655
Ensembl chrNW_004624760:937,871...939,466 		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 chrNW_004624760:1,889,793...1,897,703
Ensembl chrNW_004624760:1,889,949...1,897,703 		JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chrNW_004624760:78,754...257,901
Ensembl chrNW_004624760:81,236...257,787 		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 chrNW_004624760:1,220,036...1,267,345
Ensembl chrNW_004624760:1,179,756...1,267,285 		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 chrNW_004624760:1,533,247...1,542,529
Ensembl chrNW_004624760:1,533,390...1,540,162 		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 chrNW_004624760:1,029,318...1,038,375
Ensembl chrNW_004624760:1,029,257...1,037,821 		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 chrNW_004624760:710,923...715,126
Ensembl chrNW_004624760:711,349...715,024 		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 chrNW_004624760:911,124...912,922
Ensembl chrNW_004624760:911,145...912,951 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chrNW_004624760:2,593,923...2,713,772
Ensembl chrNW_004624760:2,593,961...2,713,772 		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 chrNW_004624760:730,245...731,559
Ensembl chrNW_004624760:730,492...731,379 		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 chrNW_004624760:2,016,066...2,030,240
Ensembl chrNW_004624760:2,015,474...2,029,939 		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 chrNW_004624760:1,763,424...1,769,277
Ensembl chrNW_004624760:1,763,440...1,770,253 		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 chrNW_004624760:1,531,439...1,533,176
Ensembl chrNW_004624760:1,531,439...1,533,170 		JBrowse link
G Dph7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chrNW_004624760:504,173...515,747 JBrowse link
G Dpp7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chrNW_004624760:825,992...829,670
Ensembl chrNW_004624760:826,218...830,636 		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 chrNW_004624760:986,820...990,019
Ensembl chrNW_004624760:986,822...990,019 		JBrowse link
G Egfl7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chrNW_004624760:1,737,001...1,746,496
Ensembl chrNW_004624760:1,738,942...1,746,226 		JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: EHMT1-related condition | ClinVar Annotator: match by term: Kleefstra syndrome 1 OMIM
ClinVar		 PMID:2663354 PMID:9536098 PMID:15805155 PMID:16199547 PMID:16826528 More... NCBI chrNW_004624760:271,397...463,462
Ensembl chrNW_004624760:272,493...379,780 		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 chrNW_004624760:859,598...865,194
Ensembl chrNW_004624760:859,637...866,804 		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 chrNW_004624760:597,580...603,523
Ensembl chrNW_004624760:599,156...603,520 		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 chrNW_004624760:1,562,213...1,568,630
Ensembl chrNW_004624760:1,562,033...1,568,550 		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 chrNW_004624760:1,978,667...2,002,131
Ensembl chrNW_004624760:1,978,293...2,001,410 		JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chrNW_004624760:939,896...943,636
Ensembl chrNW_004624760:940,256...943,644 		JBrowse link
G Fcn1 ficolin 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chrNW_004624760:2,743,996...2,751,116
Ensembl chrNW_004624760:2,743,996...2,751,110 		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 chrNW_004624760:876,048...877,984
Ensembl chrNW_004624760:876,059...877,574 		JBrowse link
G Gpsm1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chrNW_004624760:1,507,255...1,529,170
Ensembl chrNW_004624760:1,507,242...1,529,163 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chrNW_004624760:777,208...800,525
Ensembl chrNW_004624760:776,873...801,354 		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 chrNW_004624760:1,586,003...1,594,869
Ensembl chrNW_004624760:1,586,848...1,594,835 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chrNW_004624760:1,167,489...1,209,155
Ensembl chrNW_004624760:1,167,641...1,209,802 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:25741868 PMID:39013459 NCBI chrNW_004624800:4,510,669...4,785,909
Ensembl chrNW_004624800:4,511,549...4,784,053 		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 chrNW_004624760:1,070,637...1,074,260 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 chrNW_004624760:1,047,585...1,050,735 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 chrNW_004624760:1,066,532...1,070,083 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 chrNW_004624760:1,052,765...1,055,559 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 chrNW_004624760:1,143,457...1,145,561 JBrowse link
G Lcnl1 lipocalin like 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chrNW_004624760:917,617...920,100 JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chrNW_004624760:1,428,496...1,435,414
Ensembl chrNW_004624760:1,429,384...1,435,414 		JBrowse link
G LOC101710326 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chrNW_004624760:1,815,215...1,819,014
Ensembl chrNW_004624760:1,815,224...1,818,991 		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 chrNW_004624760:774,137...777,095 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 chrNW_004624760:813,657...826,020
Ensembl chrNW_004624760:813,045...825,153 		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 chrNW_004624760:517,200...518,805
Ensembl chrNW_004624760:517,200...518,884 		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 chrNW_004624760:3,112,670...3,115,621 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 chrNW_004624760:1,934,223...1,941,176
Ensembl chrNW_004624760:1,934,699...1,941,149 		JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chrNW_004624760:1,319,092...1,386,692
Ensembl chrNW_004624760:1,318,993...1,349,810 		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 chrNW_004624760:738,110...746,417
Ensembl chrNW_004624760:737,583...746,357 		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 chrNW_004624760:692,735...703,571
Ensembl chrNW_004624760:692,735...705,328 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531 		JBrowse link
G Noxa1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chrNW_004624760:602,403...610,775
Ensembl chrNW_004624760:603,528...610,942 		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 chrNW_004624760:866,358...871,572
Ensembl chrNW_004624760:866,570...871,305 		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 chrNW_004624794:141,316...158,059 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 chrNW_004624760:670,796...672,679
Ensembl chrNW_004624760:670,837...671,181 		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 chrNW_004624760:575,805...583,410
Ensembl chrNW_004624760:574,920...583,410 		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 chrNW_004624760:2,842,177...2,876,966
Ensembl chrNW_004624760:2,842,340...2,876,958 		JBrowse link
G Paxx PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chrNW_004624760:912,953...914,793
Ensembl chrNW_004624760:913,574...914,708 		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 chrNW_004624760:3,095,656...3,112,545
Ensembl chrNW_004624760:3,109,127...3,112,526 		JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chrNW_004624760:1,568,655...1,576,273
Ensembl chrNW_004624760:1,568,710...1,575,867 		JBrowse link
G Pnpla7 patatin like domain 7, lysophospholipase ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chrNW_004624760:521,145...575,431 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 chrNW_004624760:3,090,014...3,099,163
Ensembl chrNW_004624760:3,094,025...3,097,699 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chrNW_004624760:920,292...923,174
Ensembl chrNW_004624760:920,877...923,283 		JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chrNW_004624760:1,436,169...1,459,522
Ensembl chrNW_004624760:1,435,969...1,459,578 		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 chrNW_004624760:1,008,723...1,029,070
Ensembl chrNW_004624760:1,009,270...1,028,929 		JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chrNW_004624760:1,851,008...1,861,370
Ensembl chrNW_004624760:1,851,877...1,859,387 		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 chrNW_004624760:733,711...735,605
Ensembl chrNW_004624760:734,629...735,435 		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 chrNW_004624760:726,458...728,605 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 chrNW_004624760:2,379,809...2,455,749
Ensembl chrNW_004624760:2,380,708...2,456,928 		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 chrNW_004624760:843,746...848,104
Ensembl chrNW_004624760:843,760...847,327 		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 chrNW_004624760:2,030,835...2,070,517
Ensembl chrNW_004624760:2,032,326...2,066,584 		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 chrNW_004624760:1,595,021...1,628,985
Ensembl chrNW_004624760:1,594,899...1,629,409 		JBrowse link
G Slc2a6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chrNW_004624760:1,897,960...1,903,484
Ensembl chrNW_004624760:1,898,427...1,903,445 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chrNW_004624760:720,539...725,940
Ensembl chrNW_004624760:720,472...725,551 		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 chrNW_004624760:1,542,979...1,561,164
Ensembl chrNW_004624760:1,543,498...1,561,178 		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 chrNW_004624760:1,154,848...1,159,341 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 chrNW_004624760:759,471...760,797
Ensembl chrNW_004624760:759,469...760,797 		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 chrNW_004624760:1,833,797...1,851,379
Ensembl chrNW_004624760:1,835,478...1,850,864 		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 chrNW_004624760:703,733...707,880
Ensembl chrNW_004624760:705,486...706,898 		JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chrNW_004624760:1,819,028...1,822,179
Ensembl chrNW_004624760:1,819,049...1,822,161 		JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chrNW_004624760:1,823,688...1,833,438
Ensembl chrNW_004624760:1,822,052...1,833,426 		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 chrNW_004624760:1,038,579...1,040,250
Ensembl chrNW_004624760:1,038,579...1,040,239 		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 chrNW_004624760:746,451...747,960
Ensembl chrNW_004624760:746,671...747,081 		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 chrNW_004624760:1,383,478...1,386,722 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 chrNW_004624760:686,754...692,557
Ensembl chrNW_004624760:686,768...690,397 		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 chrNW_004624760:750,833...758,329
Ensembl chrNW_004624760:750,871...758,433 		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 chrNW_004624760:952,574...973,511
Ensembl chrNW_004624760:952,574...965,661 		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 chrNW_004624760:715,013...717,462
Ensembl chrNW_004624760:712,987...717,951 		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 chrNW_004624760:834,605...839,983
Ensembl chrNW_004624760:834,606...839,970 		JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chrNW_004624760:1,278,395...1,294,403
Ensembl chrNW_004624760:1,278,286...1,294,482 		JBrowse link
G Vav2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chrNW_004624760:2,081,796...2,201,520
Ensembl chrNW_004624760:2,081,796...2,201,934 		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 chrNW_004624760:2,275,660...2,291,796
Ensembl chrNW_004624760:2,274,813...2,292,379 		JBrowse link
G Zmynd19 zinc finger MYND-type containing 19 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chrNW_004624760:495,430...501,645
Ensembl chrNW_004624760:494,771...503,301 		JBrowse link
Koolen de Vries syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:9043869 PMID:10817650 PMID:12815592 PMID:16238588 PMID:17124347 More... NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216 		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 chrNW_004624849:2,484,144...2,528,130
Ensembl chrNW_004624849:2,484,109...2,528,223 		JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:9043869 PMID:10817650 PMID:12815592 PMID:16238588 PMID:17124347 More... NCBI chrNW_004624784:3,083,664...3,144,017
Ensembl chrNW_004624784:3,084,385...3,145,517 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: Koolen-de Vries syndrome OMIM
ClinVar		 PMID:2544363 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18628315 More... NCBI chrNW_004624849:2,129,154...2,317,640
Ensembl chrNW_004624849:2,129,357...2,319,538 		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 chrNW_004624849:2,320,887...2,421,099 JBrowse link
G Sppl2c signal peptide peptidase like 2C ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chrNW_004624849:2,469,076...2,471,365
Ensembl chrNW_004624849:2,468,699...2,471,428 		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 ISO OMIM:247200 MouseDO NCBI chrNW_004624786:4,706,595...4,716,743
Ensembl chrNW_004624786:4,706,592...4,720,405 		JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISO OMIM:247200 MouseDO NCBI chrNW_004624786:4,724,806...4,729,714 JBrowse link
G Mnt MAX network transcriptional repressor ISO OMIM:247200 MouseDO NCBI chrNW_004624786:5,039,699...5,057,789
Ensembl chrNW_004624786:5,039,699...5,055,491 		JBrowse link
G Myo1c myosin IC ISO ClinVar Annotator: match by term: Miller Dieker syndrome ClinVar PMID:25741868 NCBI chrNW_004624786:4,188,143...4,211,712
Ensembl chrNW_004624786:4,188,143...4,211,732 		JBrowse link
G Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO OMIM:247200 MouseDO NCBI chrNW_004624786:5,223,890...5,306,033
Ensembl chrNW_004624786:5,224,982...5,302,436 		JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISO OMIM:247200 MouseDO NCBI chrNW_004624786:4,080,650...4,135,200
Ensembl chrNW_004624786:4,080,427...4,135,459 		JBrowse link
Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9 sterile alpha motif domain containing 9 ISO ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 2 OMIM
ClinVar		 PMID:2569483 PMID:25741868 PMID:28346228 PMID:28487541 PMID:28492532 More... NCBI chrNW_004624809:14,181...64,002
Ensembl chrNW_004624809:42,443...66,279 		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 chrNW_004624742:31,895,791...32,198,156
Ensembl chrNW_004624742:31,898,892...32,189,295 		JBrowse link
Phelan-McDermid syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acr acrosin ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:42,847...49,438 JBrowse link
G Adm2 adrenomedullin 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:294,451...302,405
Ensembl chrNW_004624752:294,451...298,616 		JBrowse link
G Alg12 ALG12 alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:745,133...754,055
Ensembl chrNW_004624752:732,648...754,146 		JBrowse link
G Arhgap8 Rho GTPase activating protein 8 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:4,615,769...4,679,459
Ensembl chrNW_004624752:4,615,399...4,660,678 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:149,248...153,625
Ensembl chrNW_004624752:149,187...153,746 		JBrowse link
G Atxn10 ataxin 10 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:3,901,834...4,061,074
Ensembl chrNW_004624752:3,902,696...4,061,065 		JBrowse link
G Bik BCL2 interacting killer ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:5,839,422...5,856,350 JBrowse link
G Brd1 bromodomain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:811,457...853,702
Ensembl chrNW_004624752:811,451...854,039 		JBrowse link
G Cdpf1 cysteine rich DPF motif domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:3,637,917...3,644,863
Ensembl chrNW_004624752:3,641,861...3,644,863 		JBrowse link
G Celsr1 cadherin EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:3,426,317...3,537,219
Ensembl chrNW_004624752:3,425,901...3,535,400 		JBrowse link
G Cerk ceramide kinase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:3,285,649...3,328,131
Ensembl chrNW_004624752:3,285,637...3,326,738 		JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:187,544...191,330
Ensembl chrNW_004624752:187,956...191,137 		JBrowse link
G Cimap1b ciliary microtubule associated protein 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:250,190...252,440
Ensembl chrNW_004624752:251,038...252,381 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar PMID:25741868 NCBI chrNW_004624803:7,509,877...7,916,365
Ensembl chrNW_004624803:7,511,041...7,916,031 		JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:191,539...200,483
Ensembl chrNW_004624752:190,462...201,880 		JBrowse link
G Creld2 cysteine rich with EGF like domains 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:738,074...744,897
Ensembl chrNW_004624752:735,230...744,912 		JBrowse link
G Dennd6b DENN domain containing 6B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:459,694...472,606
Ensembl chrNW_004624752:459,087...473,277 		JBrowse link
G Efcab6 EF-hand calcium binding domain 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:5,313,804...5,552,248 JBrowse link
G Fam118a family with sequence similarity 118 member A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:4,303,362...4,345,246
Ensembl chrNW_004624752:4,320,943...4,345,288 		JBrowse link
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:4,109,478...4,189,987
Ensembl chrNW_004624752:4,109,478...4,190,066 		JBrowse link
G Gramd4 GRAM domain containing 4 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:3,328,132...3,401,027
Ensembl chrNW_004624752:3,330,905...3,400,977 		JBrowse link
G Gtse1 G2 and S-phase expressed 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:3,554,960...3,580,180
Ensembl chrNW_004624752:3,555,283...3,572,409 		JBrowse link
G Hdac10 histone deacetylase 10 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:518,563...524,497 JBrowse link
G Ins insulin ISO CTD Direct Evidence: therapeutic CTD PMID:18948358 NCBI chrNW_004624767:14,999,088...15,000,035
Ensembl chrNW_004624767:14,999,088...15,000,035 		JBrowse link
G Kiaa0930 KIAA0930 ortholog ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:4,384,488...4,424,603
Ensembl chrNW_004624752:4,384,492...4,424,603 		JBrowse link
G Klhdc7b kelch domain containing 7B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:235,932...238,153 JBrowse link
G Lmf2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:269,054...273,316
Ensembl chrNW_004624752:269,147...273,054 		JBrowse link
G LOC106007592 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:256,243...257,829
Ensembl chrNW_004624752:256,376...257,825 		JBrowse link
G Mapk11 mitogen-activated protein kinase 11 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:502,411...508,452
Ensembl chrNW_004624752:502,350...508,449 		JBrowse link
G Mapk12 mitogen-activated protein kinase 12 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:510,593...518,065
Ensembl chrNW_004624752:510,601...518,065 		JBrowse link
G Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:162,724...171,984
Ensembl chrNW_004624752:163,462...171,859 		JBrowse link
G Mcat malonyl-CoA-acyl carrier protein transacylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:5,828,037...5,836,896
Ensembl chrNW_004624752:5,827,956...5,836,400 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:653,224...675,875
Ensembl chrNW_004624752:654,076...675,863 		JBrowse link
G Mov10l1 Mov10 like RNA helicase 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:580,580...651,209
Ensembl chrNW_004624752:580,155...651,000 		JBrowse link
G Mpped1 metallophosphoesterase domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:5,560,478...5,621,506
Ensembl chrNW_004624752:5,560,391...5,619,531 		JBrowse link
G Ncaph2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:257,885...268,971
Ensembl chrNW_004624752:258,039...268,737 		JBrowse link
G Nup50 nucleoporin 50 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:4,429,650...4,449,507
Ensembl chrNW_004624752:4,433,365...4,449,769 		JBrowse link
G Panx2 pannexin 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:565,357...575,064
Ensembl chrNW_004624752:565,357...575,069 		JBrowse link
G Parvb parvin beta ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:5,039,180...5,121,056
Ensembl chrNW_004624752:5,039,037...5,121,116 		JBrowse link
G Parvg parvin gamma ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:5,005,402...5,024,577
Ensembl chrNW_004624752:5,004,642...5,024,642 		JBrowse link
G Phf21b PHD finger protein 21B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:4,543,998...4,605,501
Ensembl chrNW_004624752:4,544,003...4,605,501 		JBrowse link
G Pim3 Pim-3 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:710,959...715,035
Ensembl chrNW_004624752:710,960...715,342 		JBrowse link
G Pkdrej polycystin family receptor for egg jelly ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:3,630,908...3,632,330 JBrowse link
G Plxnb2 plexin B2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:473,451...498,555
Ensembl chrNW_004624752:469,973...498,729 		JBrowse link
G Pnpla5 patatin like domain 5, triacylglycerol lipase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:5,256,060...5,266,061
Ensembl chrNW_004624752:5,256,060...5,266,071 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:3,646,499...3,702,553
Ensembl chrNW_004624752:3,650,922...3,701,672 		JBrowse link
G Ppp6r2 protein phosphatase 6 regulatory subunit 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:331,301...434,191
Ensembl chrNW_004624752:332,145...411,391 		JBrowse link
G Prr5 proline rich 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:4,684,145...4,726,608
Ensembl chrNW_004624752:4,683,851...4,707,995 		JBrowse link
G Rabl2b RAB, member of RAS oncogene family like 2B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:12,782...33,152 JBrowse link
G Ribc2 RIB43A domain with coiled-coils 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:4,241,679...4,255,776
Ensembl chrNW_004624752:4,238,457...4,255,537 		JBrowse link
G Rtl6 retrotransposon Gag like 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:4,814,643...4,820,080
Ensembl chrNW_004624752:4,815,450...4,816,172 		JBrowse link
G Samm50 SAMM50 sorting and assembly machinery component ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:5,136,487...5,152,557
Ensembl chrNW_004624752:5,136,570...5,152,864 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:302,589...329,974
Ensembl chrNW_004624752:302,557...329,974 		JBrowse link
G Scube1 signal peptide, CUB domain and EGF like domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:5,673,335...5,783,615
Ensembl chrNW_004624752:5,673,332...5,780,634 		JBrowse link
G Selenoo selenoprotein O ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:542,378...551,300
Ensembl chrNW_004624752:542,637...550,642 		JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome OMIM
ClinVar		 PMID:17173049 PMID:20301377 PMID:21062623 PMID:22892527 PMID:23758743 More... NCBI chrNW_004624752:72,545...127,321
Ensembl chrNW_004624752:72,615...127,325 		JBrowse link
G Shisal1 shisa like 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:4,938,802...4,976,525
Ensembl chrNW_004624752:4,940,906...4,972,103 		JBrowse link
G Smc1b structural maintenance of chromosomes 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:4,255,829...4,320,257
Ensembl chrNW_004624752:4,255,897...4,320,665 		JBrowse link
G Sult4a1 sulfotransferase family 4A member 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:5,272,212...5,301,350
Ensembl chrNW_004624752:5,272,276...5,294,615 		JBrowse link
G Syce3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:204,242...235,081
Ensembl chrNW_004624752:218,587...234,971 		JBrowse link
G Tafa5 TAFA chemokine like family member 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:1,649,875...1,754,591
Ensembl chrNW_004624752:1,649,367...1,754,681 		JBrowse link
G Tbc1d22a TBC1 domain family member 22A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:2,816,547...3,272,693
Ensembl chrNW_004624752:2,903,130...3,273,535 		JBrowse link
G Tcf20 transcription factor 20 ISO OMIM:606232 MouseDO NCBI chrNW_004624752:6,446,414...6,537,238 JBrowse link
G Trabd TraB domain containing ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:554,444...562,021
Ensembl chrNW_004624752:554,471...561,692 		JBrowse link
G Trmu tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:3,538,558...3,552,847
Ensembl chrNW_004624752:3,538,558...3,553,377 		JBrowse link
G Tspo translocator protein ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:5,814,784...5,820,250
Ensembl chrNW_004624752:5,814,784...5,820,141 		JBrowse link
G Ttc38 tetratricopeptide repeat domain 38 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:3,578,459...3,602,650
Ensembl chrNW_004624752:3,576,695...3,602,658 		JBrowse link
G Ttll1 TTL family tubulin polyglutamylase complex subunit L1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:5,883,039...5,901,333
Ensembl chrNW_004624752:5,883,042...5,903,687 		JBrowse link
G Ttll12 tubulin tyrosine ligase like 12 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:5,796,935...5,813,078
Ensembl chrNW_004624752:5,796,958...5,813,075 		JBrowse link
G Ttll8 tubulin tyrosine ligase like 8 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:686,043...694,256 JBrowse link
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:524,581...542,441
Ensembl chrNW_004624752:523,290...542,341 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:251,670...256,243
Ensembl chrNW_004624752:252,937...256,244 		JBrowse link
G Upk3a uroplakin 3A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:4,354,415...4,361,250
Ensembl chrNW_004624752:4,351,164...4,361,235 		JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:3,818,073...3,856,602
Ensembl chrNW_004624752:3,818,025...3,857,027 		JBrowse link
G Zbed4 zinc finger BED-type containing 4 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004624752:763,148...785,330
Ensembl chrNW_004624752:764,368...767,868 		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 chrNW_004624741:188,985...258,065
Ensembl chrNW_004624741:188,745...250,142 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chrNW_004624784:13,824,507...13,912,672
Ensembl chrNW_004624784:13,824,541...13,908,077 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346 		JBrowse link
Rubinstein-Taybi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:7,074,148...7,113,773
Ensembl chrNW_004624752:7,074,153...7,113,773 		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 chrNW_004624824:1,777,141...1,902,324
Ensembl chrNW_004624824:1,777,141...1,939,071 		JBrowse link
G Adsl adenylosuccinate lyase ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:8,098,612...8,117,635
Ensembl chrNW_004624752:8,098,088...8,118,091 		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 chrNW_004624824:2,846,573...2,875,459
Ensembl chrNW_004624824:2,863,983...2,874,953 		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 chrNW_004624824:2,478,608...2,507,287
Ensembl chrNW_004624824:2,478,608...2,505,257 		JBrowse link
G Atf4 activating transcription factor 4 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:8,822,955...8,825,019
Ensembl chrNW_004624752:8,822,740...8,825,032 		JBrowse link
G Cacna1i calcium voltage-gated channel subunit alpha1 I ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:8,702,320...8,795,192
Ensembl chrNW_004624752:8,705,149...8,785,272 		JBrowse link
G Cbx7 chromobox 7 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:9,133,587...9,151,216
Ensembl chrNW_004624752:9,133,569...9,151,934 		JBrowse link
G Cdip1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chrNW_004624824:2,317,562...2,338,983 JBrowse link
G Chadl chondroadherin like ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:7,284,344...7,293,815
Ensembl chrNW_004624752:7,283,639...7,289,531 		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 chrNW_004624824:1,299,426...1,352,019
Ensembl chrNW_004624824:1,300,137...1,351,129 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: BROAD THUMB-HALLUX SYNDROME | 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 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: 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
ClinVar		 PMID:7630403 PMID:8967953 PMID:9536098 PMID:11331617 PMID:12070251 More... NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329 		JBrowse link
G CUNH16orf89 chromosome unknown C16orf89 homolog ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chrNW_004624824:2,838,681...2,854,521
Ensembl chrNW_004624824:2,842,238...2,852,027 		JBrowse link
G CUNH16orf90 chromosome unknown C16orf90 homolog ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chrNW_004624824:1,289,352...1,295,555 JBrowse link
G CUNH16orf96 chromosome unknown C16orf96 homolog ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chrNW_004624824:2,354,149...2,399,147 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 chrNW_004624824:2,507,454...2,518,610 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 chrNW_004624824:2,215,337...2,259,696
Ensembl chrNW_004624824:2,214,240...2,259,696 		JBrowse link
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chrNW_004624824:1,429,078...1,446,881
Ensembl chrNW_004624824:1,443,451...1,446,881 		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 chrNW_004624824:2,875,590...2,884,687 JBrowse link
G Enthd1 ENTH domain containing 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:8,527,208...8,655,014
Ensembl chrNW_004624752:8,527,004...8,655,020 		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 chrNW_004624752:8,403,619...8,438,975
Ensembl chrNW_004624752:8,406,436...8,438,950 		JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: CREBBP-related condition ClinVar PMID:10633133 PMID:10983956 PMID:11385713 PMID:11438992 PMID:12111646 More... NCBI chrNW_004624776:17,517,824...17,522,683
Ensembl chrNW_004624776:17,518,284...17,522,936 		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 chrNW_004624824:2,106,261...2,127,740
Ensembl chrNW_004624824:2,098,384...2,127,733 		JBrowse link
G Glyr1 glyoxylate reductase 1 homolog ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chrNW_004624824:2,655,909...2,692,546
Ensembl chrNW_004624824:2,655,909...2,692,522 		JBrowse link
G Grap2 GRB2 related adaptor protein 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:8,453,946...8,476,256
Ensembl chrNW_004624752:8,458,292...8,476,256 		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 chrNW_004624824:2,272,515...2,317,115 JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:7,291,888...7,309,379
Ensembl chrNW_004624752:7,292,852...7,309,856 		JBrowse link
G LOC101704312 olfactory receptor 15 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chrNW_004624824:1,161,671...1,167,369
Ensembl chrNW_004624824:1,166,431...1,167,369 		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 chrNW_004624752:7,801,867...7,805,791
Ensembl chrNW_004624752:7,801,948...7,805,635 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chrNW_004624824:1,035,172...1,047,632
Ensembl chrNW_004624824:1,035,094...1,047,678 		JBrowse link
G Mgat3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:8,859,809...8,891,344
Ensembl chrNW_004624752:8,859,596...8,891,440 		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 chrNW_004624824:2,419,973...2,473,580
Ensembl chrNW_004624824:2,420,203...2,470,627 		JBrowse link
G Mief1 mitochondrial elongation factor 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:8,827,202...8,841,278
Ensembl chrNW_004624752:8,830,485...8,841,210 		JBrowse link
G Mrtfa myocardin related transcription factor A ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:7,836,545...8,050,176
Ensembl chrNW_004624752:7,878,876...8,050,274 		JBrowse link
G Naa60 N-alpha-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chrNW_004624824:1,255,274...1,289,413
Ensembl chrNW_004624824:1,264,660...1,286,925 		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 chrNW_004624824:2,828,835...2,838,116
Ensembl chrNW_004624824:2,828,835...2,835,907 		JBrowse link
G Nlrc3 NLR family CARD domain containing 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chrNW_004624824:1,356,587...1,375,403
Ensembl chrNW_004624824:1,357,326...1,375,688 		JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chrNW_004624824:2,243,184...2,272,379
Ensembl chrNW_004624824:2,262,961...2,272,376 		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 chrNW_004624824:2,476,144...2,478,650 JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome		 ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chrNW_004624746:18,235,774...18,237,603 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 chrNW_004624741:4,966,136...5,025,465
Ensembl chrNW_004624741:4,966,260...5,007,207 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593 		JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:7,114,239...7,123,706
Ensembl chrNW_004624752:7,114,274...7,123,706 		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 chrNW_004624824:2,720,444...2,765,937
Ensembl chrNW_004624824:2,721,336...2,765,811 		JBrowse link
G Rangap1 Ran GTPase activating protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:7,246,161...7,277,702
Ensembl chrNW_004624752:7,246,193...7,277,701 		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 chrNW_004624752:7,547,702...7,560,605
Ensembl chrNW_004624752:7,546,959...7,560,668 		JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome		 ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chrNW_004624824:2,649,694...2,655,728
Ensembl chrNW_004624824:2,650,116...2,655,716 		JBrowse link
G Rpl3 ribosomal protein L3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:9,019,200...9,025,626
Ensembl chrNW_004624752:9,017,452...9,025,832 		JBrowse link
G Rps19bp1 ribosomal protein S19 binding protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:8,816,017...8,819,422
Ensembl chrNW_004624752:8,816,032...8,819,422 		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 chrNW_004624824:2,781,997...2,824,665
Ensembl chrNW_004624824:2,783,262...2,820,970 		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 chrNW_004624824:2,633,025...2,645,557
Ensembl chrNW_004624824:2,633,154...2,644,880 		JBrowse link
G Sgsm3 small G protein signaling modulator 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:8,050,345...8,093,119
Ensembl chrNW_004624752:8,050,342...8,093,105 		JBrowse link
G Slc25a17 solute carrier family 25 member 17 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chrNW_004624752:7,670,918...7,727,015
Ensembl chrNW_004624752:7,670,951...7,726,655 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chrNW_004624824:1,398,258...1,423,652
Ensembl chrNW_004624824:1,395,434...1,420,622 		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 chrNW_004624824:2,645,488...2,649,428
Ensembl chrNW_004624824:2,648,641...2,649,427 		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 chrNW_004624824:1,979,539...2,041,085
Ensembl chrNW_004624824:1,981,609...2,021,159 		JBrowse link
G St13 ST13 Hsp70 interacting protein ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chrNW_004624752:7,634,910...7,663,135
Ensembl chrNW_004624752:7,634,970...7,661,974 		JBrowse link
G Syngr1 synaptogyrin 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:8,954,164...8,990,117
Ensembl chrNW_004624752:8,954,159...8,990,789 		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 chrNW_004624752:8,912,467...8,937,313
Ensembl chrNW_004624752:8,913,900...8,937,329 		JBrowse link
G Tef TEF transcription factor, PAR bZIP family member ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:7,159,791...7,186,043
Ensembl chrNW_004624752:7,159,362...7,186,022 		JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 ClinVar PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More... NCBI chrNW_004624824:2,044,322...2,105,571
Ensembl chrNW_004624824:2,044,235...2,058,662 		JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:8,125,472...8,394,809
Ensembl chrNW_004624752:8,137,532...8,336,877 		JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:7,129,464...7,190,718
Ensembl chrNW_004624752:7,129,550...7,140,668 		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 chrNW_004624824:1,446,827...1,511,062
Ensembl chrNW_004624824:1,446,827...1,511,225 		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 chrNW_004624824:2,409,845...2,415,211 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 chrNW_004624824:2,693,270...2,720,305
Ensembl chrNW_004624824:2,693,403...2,720,305 		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 chrNW_004624824:2,154,646...2,164,796
Ensembl chrNW_004624824:2,155,589...2,164,796 		JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chrNW_004624752:7,573,399...7,634,875
Ensembl chrNW_004624752:7,574,920...7,634,838 		JBrowse link
G Zc3h7b zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004624752:7,191,287...7,233,982
Ensembl chrNW_004624752:7,193,846...7,216,469 		JBrowse link
G Znf174 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 chrNW_004624824:1,197,475...1,210,405
Ensembl chrNW_004624824:1,197,233...1,206,214 		JBrowse link
G Znf263 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 chrNW_004624824:1,067,811...1,074,910
Ensembl chrNW_004624824:1,067,773...1,074,907 		JBrowse link
G Znf597 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 chrNW_004624824:1,235,666...1,255,332
Ensembl chrNW_004624824:1,235,356...1,254,877 		JBrowse link
G Znf75a zinc finger protein 75a ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chrNW_004624824:1,086,123...1,137,317 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 subunit 3 ISO ClinVar Annotator: match by term: Chromosome 2q32-q33 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004624854:333,507...362,324
Ensembl chrNW_004624854:333,602...360,994 		JBrowse link
G Satb2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Chromosome 2q32-q33 deletion syndrome | ClinVar Annotator: match by term: SATB2 associated disorder | ClinVar Annotator: match by term: SATB2-associated syndrome | ClinVar Annotator: match by term: SATB2-related disorder OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17377962 PMID:17576681 PMID:21343628 More... NCBI chrNW_004624889:1,321,323...1,466,368
Ensembl chrNW_004624889:1,321,345...1,466,319 		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 PMID:28492532 PMID:33090494 NCBI chrNW_004624762:13,723,347...14,106,844
Ensembl chrNW_004624762:13,722,691...14,106,844 		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 chrNW_004624901:1,188,687...1,204,627
Ensembl chrNW_004624901:1,188,986...1,205,511 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:25741868 PMID:27799067 PMID:28492532 NCBI chrNW_004624736:11,022,691...11,133,950
Ensembl chrNW_004624736:11,022,691...11,134,377 		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 chrNW_004624755:22,638,804...22,763,380
Ensembl chrNW_004624755:22,643,952...22,708,804 		JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 PMID:28492532 NCBI chrNW_004624909:421,033...455,201
Ensembl chrNW_004624909:420,077...455,309 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346 		JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chrNW_004624828:5,489,085...5,511,166
Ensembl chrNW_004624828:5,488,814...5,511,445 		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 chrNW_004624946:620,581...685,339
Ensembl chrNW_004624946:628,284...685,246 		JBrowse link
G Rai1 retinoic acid induced 1 ISO 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
ClinVar		 PMID:8841119 PMID:12652298 PMID:15788730 PMID:18414213 PMID:21857958 More... NCBI chrNW_004624849:3,624,436...3,749,276
Ensembl chrNW_004624849:3,625,882...3,640,671 		JBrowse link
G Sms spermine synthase ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25741868 NCBI chrNW_004624829:6,883,018...6,931,646
Ensembl chrNW_004624829:6,883,027...6,931,389 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25087610 NCBI chrNW_004624849:3,602,103...3,623,922
Ensembl chrNW_004624849:3,602,261...3,623,465 		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 chrNW_004624749:2,333,472...2,344,652
Ensembl chrNW_004624749:2,333,472...2,344,674 		JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25087610 NCBI chrNW_004624849:3,466,572...3,594,397
Ensembl chrNW_004624849:3,466,520...3,594,738 		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 chrNW_004624732:44,097,348...44,226,701
Ensembl chrNW_004624732:44,101,613...44,139,997 		JBrowse link
Takao VCF Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome ClinVar PMID:14585638 PMID:15703190 PMID:17273972 NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098 		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 chrNW_004624772:16,661,720...16,707,676
Ensembl chrNW_004624772:16,688,493...16,707,189 		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 chrNW_004624772:17,315,076...17,330,487
Ensembl chrNW_004624772:17,314,813...17,320,009 		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 chrNW_004624772:17,226,734...17,250,880
Ensembl chrNW_004624772:17,233,816...17,244,947 		JBrowse link
G Bcl9 BCL9 transcription coactivator ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chrNW_004624772:16,580,740...16,661,617
Ensembl chrNW_004624772:16,647,707...16,661,978 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chrNW_004624772:16,178,080...16,241,869
Ensembl chrNW_004624772:16,178,139...16,241,624 		JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chrNW_004624772:16,132,648...16,155,717
Ensembl chrNW_004624772:16,131,954...16,155,477 		JBrowse link
G Gja5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chrNW_004624772:16,810,723...16,828,328
Ensembl chrNW_004624772:16,813,011...16,814,084 		JBrowse link
G Gja8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chrNW_004624772:16,959,615...16,960,937
Ensembl chrNW_004624772:16,959,615...16,960,937 		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 chrNW_004624772:17,363,062...17,367,320
Ensembl chrNW_004624772:17,360,207...17,367,373 		JBrowse link
G Itga10 integrin subunit alpha 10 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chrNW_004624772:17,253,972...17,269,796
Ensembl chrNW_004624772:17,255,598...17,269,669 		JBrowse link
G Lix1l limb and CNS expressed 1 like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chrNW_004624772:17,292,118...17,313,010
Ensembl chrNW_004624772:17,293,732...17,313,184 		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 chrNW_004624772:17,214,539...17,217,515
Ensembl chrNW_004624772:17,214,577...17,216,954 		JBrowse link
G Pdzk1 PDZ domain containing 1 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chrNW_004624772:17,023,837...17,057,160
Ensembl chrNW_004624772:17,022,967...17,057,447 		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 chrNW_004624772:17,270,633...17,281,170
Ensembl chrNW_004624772:17,270,519...17,281,159 		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 chrNW_004624772:17,217,068...17,226,757
Ensembl chrNW_004624772:17,217,986...17,224,020 		JBrowse link
G Polr3c RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chrNW_004624772:17,196,418...17,212,265
Ensembl chrNW_004624772:17,196,388...17,212,727 		JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chrNW_004624772:17,320,090...17,328,492
Ensembl chrNW_004624772:17,281,782...17,328,628 		JBrowse link
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chrNW_004624772:16,110,805...16,127,221
Ensembl chrNW_004624772:16,110,294...16,127,119 		JBrowse link
G Rbm8a RNA binding motif protein 8A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome OMIM
ClinVar		 PMID:9536098 PMID:16501574 PMID:17236129 PMID:17576681 PMID:20301781 More... NCBI chrNW_004624772:17,286,950...17,289,143
Ensembl chrNW_004624772:17,286,957...17,295,135 		JBrowse link
G Rnf115 ring finger protein 115 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chrNW_004624772:17,099,593...17,196,258
Ensembl chrNW_004624772:17,104,189...17,196,326 		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 chrNW_004624772:17,341,918...17,345,964
Ensembl chrNW_004624772:17,341,630...17,345,960 		JBrowse link
velocardiofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm3 AIF family member 3 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:710,562...724,699
Ensembl chrNW_004624945:710,820...722,621 		JBrowse link
G Arvcf ARVCF delta catenin family member ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:590,293...643,797
Ensembl chrNW_004624747:591,891...610,988 		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 chrNW_004624747:756,298...759,056 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 chrNW_004624747:132,731...161,590
Ensembl chrNW_004624747:132,835...161,553 		JBrowse link
G Chrd chordin ISO OMIM:192430 MouseDO NCBI chrNW_004624730:72,201,239...72,209,843
Ensembl chrNW_004624730:72,201,644...72,209,843 		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 chrNW_004624747:164,113...166,502
Ensembl chrNW_004624747:164,761...165,417 		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 chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:734,532...767,184
Ensembl chrNW_004624945:734,532...767,168 		JBrowse link
G CUNH22orf39 chromosome unknown C22orf39 homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:101,938...109,335
Ensembl chrNW_004624747:103,310...107,382 		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 chrNW_004624945:204,374...295,551
Ensembl chrNW_004624945:204,133...297,341 		JBrowse link
G Dgcr6l DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:905,239...910,562 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 chrNW_004624747:689,751...722,266
Ensembl chrNW_004624747:689,955...722,266 		JBrowse link
G Ednra endothelin receptor type A ISO OMIM:192430 MouseDO NCBI chrNW_004624853:6,298,406...6,362,353
Ensembl chrNW_004624853:6,302,751...6,360,089 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:176,773...187,586
Ensembl chrNW_004624945:176,678...188,040 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:418,912...489,057
Ensembl chrNW_004624747:418,519...489,529 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:352,129...354,173
Ensembl chrNW_004624747:352,165...354,170 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:172,345...176,453
Ensembl chrNW_004624945:172,345...176,191 		JBrowse link
G Klhl22 kelch like family member 22 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:409,093...446,619
Ensembl chrNW_004624945:408,999...441,975 		JBrowse link
G LOC101713307 protein HIRA ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:9...95,643 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 chrNW_004624945:656,956...685,824
Ensembl chrNW_004624945:656,983...670,865 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO OMIM:192430 MouseDO NCBI chrNW_004624747:1,296,062...1,389,674
Ensembl chrNW_004624747:1,296,221...1,389,757 		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 chrNW_004624945:488,396...562,084 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 chrNW_004624747:96,411...99,490
Ensembl chrNW_004624747:96,418...100,913 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:646,361...687,901
Ensembl chrNW_004624945:648,499...656,075 		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 chrNW_004624945:837,877...1,016,041
Ensembl chrNW_004624945:837,864...1,014,684 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO OMIM:192430 MouseDO NCBI chrNW_004624816:10,087,866...10,185,004
Ensembl chrNW_004624816:10,164,666...10,184,994 		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 chrNW_004624747:728,123...736,045
Ensembl chrNW_004624747:728,014...736,043 		JBrowse link
G Rtl10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:484,995...486,791 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 chrNW_004624747:829,947...855,942
Ensembl chrNW_004624747:829,850...855,991 		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 chrNW_004624945:392,615...404,961
Ensembl chrNW_004624945:393,412...404,958 		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 chrNW_004624747:343,940...352,016
Ensembl chrNW_004624747:343,934...353,561 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:919,639...932,515
Ensembl chrNW_004624945:915,789...932,515 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:155,596...159,042
Ensembl chrNW_004624945:155,604...159,667 		JBrowse link
G Slc7a4 solute carrier family 7 member 4 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:642,082...646,247
Ensembl chrNW_004624945:642,432...646,231 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:799,831...837,720
Ensembl chrNW_004624945:801,833...837,564 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:647,571...686,870 JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Shprintzen VCF syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:16684884 PMID:17273972 More... NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098 		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 chrNW_004624945:687,941...690,480
Ensembl chrNW_004624945:688,185...690,480 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO OMIM:192430 MouseDO NCBI chrNW_004624745:29,959,237...30,031,074
Ensembl chrNW_004624745:29,961,054...30,031,113 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:722,901...727,979
Ensembl chrNW_004624747:722,607...727,947 		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 chrNW_004624747:485,012...569,175
Ensembl chrNW_004624747:514,158...569,154 		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 chrNW_004624747:110,090...132,145
Ensembl chrNW_004624747:110,090...132,097 		JBrowse link
G Zdhhc8 zDHHC palmitoyltransferase 8 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:740,352...755,891
Ensembl chrNW_004624747:739,594...754,989 		JBrowse link
G Znf74 zinc finger protein 74 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004624945:356,794...367,202 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: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624766:20,343,776...20,536,627
Ensembl chrNW_004624766:20,343,803...20,531,873 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 More... NCBI chrNW_004624766:20,536,581...20,554,589
Ensembl chrNW_004624766:20,536,233...20,554,759 		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 ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202 		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 chrNW_004624740:14,093,587...14,099,465
Ensembl chrNW_004624740:14,093,439...14,095,994 		JBrowse link
G Baz1b bromodomain adjacent to zinc finger domain 1B ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:14,247,972...14,319,713
Ensembl chrNW_004624740:14,248,274...14,319,823 		JBrowse link
G Bcl7b BAF chromatin remodeling complex subunit BCL7B ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:14,223,391...14,237,897
Ensembl chrNW_004624740:14,223,384...14,240,671 		JBrowse link
G Bud23 BUD23 rRNA methyltransferase and ribosome maturation factor ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:14,120,798...14,131,490
Ensembl chrNW_004624740:14,120,798...14,131,933 		JBrowse link
G Cldn3 claudin 3 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:14,065,172...14,066,432
Ensembl chrNW_004624740:14,065,478...14,066,137 		JBrowse link
G Cldn4 claudin 4 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:14,033,848...14,035,854 JBrowse link
G Clip2 CAP-Gly domain containing linker protein 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:13,674,727...13,716,826
Ensembl chrNW_004624740:13,675,610...13,708,290 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO CTD Direct Evidence: marker/mechanism
OMIM:194050		 CTD
MouseDO		 PMID:20952458 NCBI chrNW_004624786:9,811,201...9,835,660
Ensembl chrNW_004624786:9,811,780...9,837,100 		JBrowse link
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:14,131,362...14,133,580 JBrowse link
G Eif4h eukaryotic translation initiation factor 4H ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:13,779,387...13,801,679
Ensembl chrNW_004624740:13,779,024...13,801,809 		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 ClinVar PMID:10942104 PMID:25741868 PMID:28492532 PMID:31829210 NCBI chrNW_004624740:13,856,932...13,886,266 JBrowse link
G Fkbp6 FKBP prolyl isomerase family member 6 (inactive) ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:14,369,214...14,400,560
Ensembl chrNW_004624740:14,369,164...14,400,480 		JBrowse link
G Fzd3 frizzled class receptor 3 ISO maps to 2 Mb in chromosome band 7q11.23 deleted in WS RGD PMID:9147651 RGD:1582654 NCBI chrNW_004624758:23,147,512...23,240,711
Ensembl chrNW_004624758:23,147,452...23,230,879 		JBrowse link
G Fzd9 frizzled class receptor 9 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:14,323,445...14,325,616
Ensembl chrNW_004624740:14,323,817...14,325,601 		JBrowse link
G Gtf2i general transcription factor IIi ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:13,446,811...13,547,050
Ensembl chrNW_004624740:13,445,872...13,547,056 		JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:13,581,752...13,653,148
Ensembl chrNW_004624740:13,579,292...13,652,402 		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 chrNW_004624740:13,745,949...13,764,869 JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:13,824,930...13,847,605
Ensembl chrNW_004624740:13,823,437...13,847,808 		JBrowse link
G Lox lysyl oxidase ISO OMIM:194050 MouseDO NCBI chrNW_004624774:20,116,625...20,137,767
Ensembl chrNW_004624774:20,116,970...20,134,355 		JBrowse link
G Mettl27 methyltransferase like 27 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:14,027,930...14,032,058 JBrowse link
G Mlxipl MLX interacting protein like ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624740:14,150,425...14,187,687
Ensembl chrNW_004624740:14,168,238...14,187,264 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO DNA:deletion RGD PMID:16532385 RGD:1624399 NCBI chrNW_004624740:13,428,375...13,439,915
Ensembl chrNW_004624740:13,429,476...13,439,807 		JBrowse link
G Nsun5 NOP2/Sun RNA methyltransferase 5 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:14,413,451...14,418,255
Ensembl chrNW_004624740:14,413,489...14,419,340 		JBrowse link
G Rcc1l RCC1 like ISO RGD PMID:12073013 RGD:1580600 NCBI chrNW_004624740:13,365,571...13,381,197
Ensembl chrNW_004624740:13,365,437...13,384,611 		JBrowse link
G Rfc2 replication factor C subunit 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:13,737,225...13,748,876
Ensembl chrNW_004624740:13,737,310...13,748,821 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO OMIM:194050 MouseDO NCBI chrNW_004624842:2,212,561...2,260,514
Ensembl chrNW_004624842:2,211,020...2,230,132 		JBrowse link
G Stx1a syntaxin 1A ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:14,104,033...14,120,133
Ensembl chrNW_004624740:14,104,050...14,120,133 		JBrowse link
G Tbl2 transducin beta like 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:14,210,310...14,218,600
Ensembl chrNW_004624740:14,210,246...14,219,701 		JBrowse link
G Tmem270 transmembrane protein 270 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:14,017,188...14,021,587 JBrowse link
G Trim50 tripartite motif containing 50 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:14,399,773...14,410,477
Ensembl chrNW_004624740:14,399,068...14,409,933 		JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:14,137,087...14,142,211
Ensembl chrNW_004624740:14,136,775...14,142,569 		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 chrNW_004624755:26,265,590...26,286,203
Ensembl chrNW_004624755:26,266,614...26,288,079 		JBrowse link
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624755:25,998,524...26,021,223
Ensembl chrNW_004624755:25,999,713...26,021,331 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624755:26,134,957...26,145,746
Ensembl chrNW_004624755:26,135,505...26,144,325 		JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO 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 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624755:25,604,636...25,631,974
Ensembl chrNW_004624755:25,604,454...25,631,716 		JBrowse link
G Msx1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630905 NCBI chrNW_004624755:21,857,360...21,861,235
Ensembl chrNW_004624755:21,857,461...21,861,337 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome ClinVar PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 More... NCBI chrNW_004624755:25,510,329...25,588,540
Ensembl chrNW_004624755:25,509,301...25,588,204 		JBrowse link
G Nuf2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome ClinVar NCBI chrNW_004624826:1,794,084...1,831,009
Ensembl chrNW_004624826:1,798,737...1,831,112 		JBrowse link
Term paths to the root
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  disease 14230
    Pathological Conditions, Signs and Symptoms 11248
      Pathologic Processes 7125
        Chromosome Aberrations 2526
          Aneuploidy 1783
            Monosomy 1534
              Chromosome 18 Mosaic Monosomy 0
              Chromosome Deletion + 1534
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