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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_004955541:2,837,487...2,876,220
Ensembl chrNW_004955541:2,837,448...2,876,316 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,921,230...3,033,612
Ensembl chrNW_004955541:2,919,631...2,961,445 		JBrowse link
G Aprt adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906 		JBrowse link
G Banp BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,169,303...2,256,779
Ensembl chrNW_004955541:2,169,303...2,256,779 		JBrowse link
G Ca5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,141,450...2,159,955
Ensembl chrNW_004955541:2,139,920...2,160,597 		JBrowse link
G Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,724,369...2,777,540
Ensembl chrNW_004955541:2,724,312...2,777,592 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,881,374...2,893,885
Ensembl chrNW_004955541:2,881,525...2,893,653 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,683,030...2,687,883
Ensembl chrNW_004955541:2,683,408...2,687,102 		JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:3,159,485...3,170,304
Ensembl chrNW_004955541:3,159,818...3,170,428 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,610,021...2,618,197 JBrowse link
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:1,811,010...1,828,734
Ensembl chrNW_004955541:1,811,010...1,828,724 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,691,103...2,711,137
Ensembl chrNW_004955541:2,691,103...2,710,696 		JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,568,941...2,570,440
Ensembl chrNW_004955541:2,568,941...2,570,440 		JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:1,969,197...2,020,868
Ensembl chrNW_004955541:1,969,194...2,017,588 		JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,026,554...2,065,627
Ensembl chrNW_004955541:2,026,771...2,065,462 		JBrowse link
G LOC102004641 cytochrome b-245 light chain ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,570,843...2,573,822
Ensembl chrNW_004955541:2,569,727...2,574,118 		JBrowse link
G LOC102025174 chromosome unknown open reading frame, human C16orf95 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:1,795,301...1,807,870 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_004955541:1,852,388...1,868,194 JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,578,584...2,581,823
Ensembl chrNW_004955541:2,579,074...2,581,821 		JBrowse link
G Pabpn1l PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,718,076...2,720,322
Ensembl chrNW_004955541:2,718,076...2,720,322 		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_004955541:2,618,167...2,655,349
Ensembl chrNW_004955541:2,618,438...2,643,771 		JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,604,197...2,607,969
Ensembl chrNW_004955541:2,605,096...2,608,866 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:3,149,438...3,152,210
Ensembl chrNW_004955541:3,149,438...3,152,210 		JBrowse link
G Slc22a31 solute carrier family 22 member 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,894,053...2,897,032
Ensembl chrNW_004955541:2,892,495...2,896,840 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,103,437...2,129,668
Ensembl chrNW_004955541:2,103,384...2,130,310 		JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,593,530...2,599,105
Ensembl chrNW_004955541:2,593,351...2,599,175 		JBrowse link
G Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,711,051...2,715,458
Ensembl chrNW_004955541:2,710,938...2,718,804 		JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,531,230...2,566,959
Ensembl chrNW_004955541:2,524,499...2,567,203 		JBrowse link
G Zcchc14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:1,872,624...1,909,723
Ensembl chrNW_004955541:1,872,624...1,909,779 		JBrowse link
G Zfpm1 zinc finger protein, FOG family member 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,461,690...2,495,614 JBrowse link
G Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004955541:2,404,549...2,438,183 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_004955406:18,435,984...18,527,967
Ensembl chrNW_004955406:18,437,672...18,527,698 		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_004955406:19,481,640...19,658,807
Ensembl chrNW_004955406:19,481,640...19,658,806 		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_004955406:18,160,164...18,224,822
Ensembl chrNW_004955406:18,203,310...18,224,789 		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_004955406:13,842,571...13,882,625
Ensembl chrNW_004955406:13,846,452...13,872,411 		JBrowse link
G Astn1 astrotactin 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004955406:16,445,738...16,742,185
Ensembl chrNW_004955406:16,445,495...16,742,295 		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_004955462:8,072,519...8,095,311
Ensembl chrNW_004955462:8,073,679...8,094,880 		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_004955406:18,717,383...18,859,263
Ensembl chrNW_004955406:18,717,820...18,858,905 		JBrowse link
G Blzf1 basic leucine zipper nuclear factor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:7,856,650...7,879,659
Ensembl chrNW_004955462:7,855,075...7,879,186 		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_004955406:16,748,824...16,840,924
Ensembl chrNW_004955406:16,748,824...16,844,093 		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_004955406:20,356,564...20,824,679
Ensembl chrNW_004955406:20,510,954...20,816,678 		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_004955406:14,823,509...14,840,127 JBrowse link
G Ccdc181 coiled-coil domain containing 181 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:7,820,176...7,838,931
Ensembl chrNW_004955462:7,821,226...7,838,892 		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_004955406:13,949,697...13,963,827
Ensembl chrNW_004955406:13,949,697...13,963,827 		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_004955406:19,178,993...19,329,467
Ensembl chrNW_004955406:19,196,806...19,325,763 		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_004955406:15,662,546...15,859,306
Ensembl chrNW_004955406:15,662,546...15,859,306 		JBrowse link
G CUNH1orf105 chromosome unknown C1orf105 homolog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955406:12,883,547...12,919,467
Ensembl chrNW_004955406:12,883,078...12,921,221 		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_004955406:13,964,087...13,991,691
Ensembl chrNW_004955406:13,964,087...13,991,691 		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_004955406:21,697,813...21,743,551
Ensembl chrNW_004955406:21,697,813...21,745,011 		JBrowse link
G Dnm3 dynamin 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955406:12,345,483...12,881,182
Ensembl chrNW_004955406:12,345,693...12,881,269 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:7,695,004...7,757,832
Ensembl chrNW_004955462:7,694,939...7,757,463 		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_004955406:19,019,569...19,079,995
Ensembl chrNW_004955406:19,028,513...19,080,892 		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_004955406:18,357,394...18,400,743
Ensembl chrNW_004955406:18,357,036...18,401,240 		JBrowse link
G Faslg Fas ligand ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389 		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_004955462:7,477,260...7,518,227
Ensembl chrNW_004955462:7,476,887...7,518,153 		JBrowse link
G Fmo1 flavin containing dimethylaniline monoxygenase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955406:11,882,656...11,915,875
Ensembl chrNW_004955406:11,881,882...11,916,323 		JBrowse link
G Fmo2 flavin containing dimethylaniline monoxygenase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955406:11,851,694...11,875,314
Ensembl chrNW_004955406:11,851,637...11,876,843 		JBrowse link
G Fmo4 flavin containing dimethylaniline monoxygenase 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955406:11,967,045...11,987,105
Ensembl chrNW_004955406:11,967,003...11,988,887 		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_004955406:21,266,383...21,274,546
Ensembl chrNW_004955406:21,266,383...21,275,309 		JBrowse link
G Gorab golgin, RAB6 interacting ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:6,807,618...6,824,296
Ensembl chrNW_004955462:6,807,707...6,825,935 		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_004955406:14,415,252...14,420,251
Ensembl chrNW_004955406:14,415,252...14,420,251 		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_004955406:20,140,510...20,143,147 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_004955406:14,960,837...14,961,459 JBrowse link
G Kiaa1614 KIAA1614 ortholog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004955406:20,005,261...20,038,783
Ensembl chrNW_004955406:20,005,261...20,038,895 		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_004955406:13,891,589...13,938,964
Ensembl chrNW_004955406:13,891,571...13,938,964 		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_004955406:21,863,836...21,990,161
Ensembl chrNW_004955406:21,863,836...21,992,199 		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_004955406:22,020,330...22,074,271
Ensembl chrNW_004955406:22,020,024...22,075,942 		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_004955406:19,457,658...19,470,875 JBrowse link
G LOC102013688 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_004955406:20,098,544...20,117,065
Ensembl chrNW_004955406:20,098,538...20,125,057 		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_004955406:12,274,191...12,290,219
Ensembl chrNW_004955406:12,274,193...12,290,219 		JBrowse link
G Mettl18 methyltransferase 18, RPL3 N3(tau)-histidine ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:7,519,591...7,521,021
Ensembl chrNW_004955462:7,519,857...7,520,978 		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_004955442:17,689,702...17,771,230
Ensembl chrNW_004955442:17,690,620...17,771,230 		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_004955406:14,844,301...14,847,389
Ensembl chrNW_004955406:14,844,301...14,847,389 		JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955406:12,182,115...12,194,683
Ensembl chrNW_004955406:12,182,046...12,199,669 		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_004955406:22,355,717...22,384,746
Ensembl chrNW_004955406:22,355,724...22,384,864 		JBrowse link
G Nme7 NME/NM23 family member 7 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:7,879,754...8,073,207
Ensembl chrNW_004955462:7,880,157...8,073,186 		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_004955406:22,077,247...22,274,668
Ensembl chrNW_004955406:22,076,343...22,227,200 		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_004955406:18,862,054...18,885,214
Ensembl chrNW_004955406:18,863,446...18,885,279 		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_004955406:21,633,979...21,670,279
Ensembl chrNW_004955406:21,633,032...21,670,958 		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_004955462:6,450,063...6,473,919 JBrowse link
G Pappa2 pappalysin 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004955406:16,167,764...16,430,165
Ensembl chrNW_004955406:16,169,759...16,430,206 		JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955406:12,891,187...12,893,935
Ensembl chrNW_004955406:12,891,187...12,893,935 		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_004955406:13,717,267...13,728,216
Ensembl chrNW_004955406:13,717,267...13,728,216 		JBrowse link
G Prrc2c proline rich coiled-coil 2C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955406:12,087,072...12,165,266
Ensembl chrNW_004955406:12,108,097...12,163,587 		JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:6,919,905...6,991,733
Ensembl chrNW_004955462:6,919,899...6,991,733 		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_004955406:19,363,938...19,402,134 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_004955406:14,216,549...14,815,052
Ensembl chrNW_004955406:14,262,738...14,815,052 		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_004955406:18,161,587...18,267,737
Ensembl chrNW_004955406:18,161,585...18,262,436 		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_004955406:17,602,584...17,904,611
Ensembl chrNW_004955406:17,603,377...17,910,464 		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_004955406:14,053,122...14,123,023
Ensembl chrNW_004955406:14,053,122...14,123,029 		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_004955406:21,439,536...21,444,822
Ensembl chrNW_004955406:21,439,272...21,445,038 		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_004955406:21,482,810...21,523,518
Ensembl chrNW_004955406:21,482,810...21,523,674 		JBrowse link
G Rgsl1 regulator of G protein signaling like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004955406:21,274,546...21,395,534
Ensembl chrNW_004955406:21,332,926...21,390,893 		JBrowse link
G Rnasel ribonuclease L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004955406:21,413,950...21,424,860
Ensembl chrNW_004955406:21,411,980...21,425,052 		JBrowse link
G Scyl3 SCY1 like pseudokinase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:7,443,841...7,477,596
Ensembl chrNW_004955462:7,448,893...7,476,840 		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_004955406:17,458,699...17,509,379
Ensembl chrNW_004955406:17,458,635...17,491,920 		JBrowse link
G Sele selectin E ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:7,564,437...7,575,297 JBrowse link
G Sell selectin L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:7,591,997...7,611,408
Ensembl chrNW_004955462:7,591,366...7,612,846 		JBrowse link
G Selp selectin P ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:7,658,371...7,692,870
Ensembl chrNW_004955462:7,652,437...7,693,994 		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_004955406:14,024,183...14,036,206
Ensembl chrNW_004955406:14,024,313...14,035,948 		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_004955406:21,754,461...21,785,156
Ensembl chrNW_004955406:21,754,461...21,785,158 		JBrowse link
G Slc19a2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:7,786,920...7,804,828
Ensembl chrNW_004955462:7,786,913...7,805,792 		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_004955406:13,734,098...13,838,966
Ensembl chrNW_004955406:13,734,811...13,838,989 		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_004955406:22,273,298...22,352,782
Ensembl chrNW_004955406:22,273,298...22,352,782 		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_004955406:18,644,351...18,708,666
Ensembl chrNW_004955406:18,655,894...18,706,891 		JBrowse link
G Stx6 syntaxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004955406:20,042,552...20,089,853
Ensembl chrNW_004955406:20,048,155...20,089,906 		JBrowse link
G Suco SUN domain containing ossification factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955406:12,985,339...13,064,863
Ensembl chrNW_004955406:12,985,856...13,065,855 		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_004955406:18,895,010...18,961,200
Ensembl chrNW_004955406:18,895,011...18,962,333 		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_004955406:21,282,941...21,285,402 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_004955406:17,930,460...17,946,364
Ensembl chrNW_004955406:17,930,537...17,946,480 		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_004955406:13,391,162...13,402,479 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_004955406:13,477,077...13,493,309
Ensembl chrNW_004955406:13,477,077...13,493,309 		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_004955406:14,882,414...14,950,572
Ensembl chrNW_004955406:14,882,245...14,950,587 		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_004955406:15,007,248...15,512,219
Ensembl chrNW_004955406:15,088,843...15,282,937 		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_004955406:19,122,906...19,152,458
Ensembl chrNW_004955406:19,122,926...19,151,522 		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_004955406:18,408,095...18,422,098
Ensembl chrNW_004955406:18,408,154...18,424,403 		JBrowse link
G Vamp4 vesicle associated membrane protein 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955406:12,223,736...12,260,506
Ensembl chrNW_004955406:12,223,736...12,260,317 		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_004955406:19,831,398...19,980,994
Ensembl chrNW_004955406:19,797,245...19,974,911 		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_004955406:14,000,003...14,028,673
Ensembl chrNW_004955406:14,000,282...14,011,645 		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_004955406:21,017,715...21,023,779
Ensembl chrNW_004955406:21,018,719...21,020,398 		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_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770 		JBrowse link
G Six1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chrNW_004955466:8,961,597...8,966,069
Ensembl chrNW_004955466:8,961,597...8,966,069 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO RGD PMID:16452092 RGD:155663362 NCBI chrNW_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337 		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_004955430:8,014,631...8,197,434
Ensembl chrNW_004955430:8,014,583...8,197,434 		JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:7,960,036...7,988,754
Ensembl chrNW_004955430:7,960,039...7,988,754 		JBrowse link
G Capn7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:2,269,274...2,307,801
Ensembl chrNW_004955430:2,269,274...2,308,713 		JBrowse link
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,201,563...17,218,726
Ensembl chrNW_004955429:17,201,027...17,218,726 		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_004955429:16,911,392...16,921,353
Ensembl chrNW_004955429:16,912,208...16,921,157 		JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:1,956,833...2,019,581
Ensembl chrNW_004955430:1,956,375...2,019,598 		JBrowse link
G CUNH3orf20 chromosome unknown C3orf20 homolog ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,222,834...17,271,320
Ensembl chrNW_004955429:17,231,820...17,272,343 		JBrowse link
G Dazl deleted in azoospermia like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,869,419...8,880,782
Ensembl chrNW_004955430:8,869,352...8,880,789 		JBrowse link
G Dph3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,544,314...8,550,276
Ensembl chrNW_004955430:8,544,314...8,550,276 		JBrowse link
G Eaf1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:1,933,290...1,946,900
Ensembl chrNW_004955430:1,933,290...1,947,932 		JBrowse link
G Efhb EF-hand domain family member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:11,932,753...11,986,985
Ensembl chrNW_004955430:11,932,296...11,987,845 		JBrowse link
G Fbln2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:12,791,926...12,880,544
Ensembl chrNW_004955429:12,788,468...12,880,543 		JBrowse link
G Fgd5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,297,123...17,367,365
Ensembl chrNW_004955429:17,304,992...17,366,051 		JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,463,773...8,510,583
Ensembl chrNW_004955430:8,464,496...8,510,642 		JBrowse link
G Grip2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,132,520...17,177,547
Ensembl chrNW_004955429:17,134,158...17,160,036 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:2,055,774...2,096,260
Ensembl chrNW_004955430:2,053,640...2,096,432 		JBrowse link
G Hdac11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:12,890,939...12,907,749
Ensembl chrNW_004955429:12,890,879...12,907,749 		JBrowse link
G Kat2b lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:12,109,493...12,196,102
Ensembl chrNW_004955430:12,128,069...12,198,117 		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_004955430:11,298,850...11,654,835
Ensembl chrNW_004955430:11,298,850...11,654,835 		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_004955429:16,968,490...16,977,517
Ensembl chrNW_004955429:16,968,490...16,977,517 		JBrowse link
G Mettl6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:1,910,557...1,933,249
Ensembl chrNW_004955430:1,909,404...1,933,239 		JBrowse link
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,424,570...17,436,247
Ensembl chrNW_004955429:17,432,443...17,436,247 		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_004955429:17,386,190...17,430,820
Ensembl chrNW_004955429:17,386,190...17,430,820 		JBrowse link
G Nup210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:12,907,943...13,041,819
Ensembl chrNW_004955429:12,961,665...13,043,214 		JBrowse link
G Oxnad1 oxidoreductase NAD binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,550,370...8,586,863
Ensembl chrNW_004955430:8,550,372...8,586,863 		JBrowse link
G Plcl2 phospholipase C like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:9,157,074...9,347,366
Ensembl chrNW_004955430:9,157,074...9,348,563 		JBrowse link
G Pp2d1 protein phosphatase 2C like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:12,039,391...12,070,440
Ensembl chrNW_004955430:12,040,197...12,069,254 		JBrowse link
G Rab5a RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:11,991,548...12,040,003 JBrowse link
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,444,031...17,468,024
Ensembl chrNW_004955429:17,444,622...17,468,050 		JBrowse link
G Rftn1 raftlin, lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,605,057...8,801,187
Ensembl chrNW_004955430:8,603,401...8,779,896 		JBrowse link
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:10,587,539...10,683,887
Ensembl chrNW_004955430:10,587,539...10,683,887 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chrNW_004955561:968,814...1,091,687
Ensembl chrNW_004955561:968,814...1,042,691 		JBrowse link
G Sh3bp5 SH3 domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:2,251,544...2,266,166
Ensembl chrNW_004955430:2,196,967...2,264,953 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,097,753...17,130,079
Ensembl chrNW_004955429:17,098,268...17,130,433 		JBrowse link
G Tbc1d5 TBC1 domain family member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:9,411,865...9,966,710
Ensembl chrNW_004955430:9,410,475...9,940,460 		JBrowse link
G Thumpd3 THUMP domain 3 tRNA guanosine methyltransferase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chrNW_004955561:933,168...956,457
Ensembl chrNW_004955561:933,173...956,457 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:16,921,469...16,934,978
Ensembl chrNW_004955429:16,921,469...16,934,978 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:12,647,993...12,693,998
Ensembl chrNW_004955429:12,647,993...12,694,895 		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_004955429:16,935,901...16,968,285
Ensembl chrNW_004955429:16,935,901...16,955,845 		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_004955478:941,684...945,563
Ensembl chrNW_004955478:940,177...945,563 		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_004955434:5,341,519...5,448,049
Ensembl chrNW_004955434:5,341,286...5,448,235 		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_004955406:7,364,080...7,372,038
Ensembl chrNW_004955406:7,364,080...7,373,483 		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_004955510:5,812,571...5,936,312
Ensembl chrNW_004955510:5,905,008...5,936,312 		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_004955476:9,850,110...10,054,313
Ensembl chrNW_004955476:9,849,365...10,054,583 		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_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		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_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473 		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_004955404:30,254,934...30,266,898
Ensembl chrNW_004955404:30,254,841...30,270,921 		JBrowse link
G Alg11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:5,297,477...5,320,653
Ensembl chrNW_004955431:5,297,715...5,306,590 		JBrowse link
G Arl11 ARF like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:3,086,983...3,090,423
Ensembl chrNW_004955431:3,086,983...3,090,423 		JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:5,228,395...5,297,120
Ensembl chrNW_004955431:5,229,126...5,269,616 		JBrowse link
G Bora BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:33,923,496...33,946,113
Ensembl chrNW_004955404:33,924,533...33,946,346 		JBrowse link
G Cab39l calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,781,714...2,899,857
Ensembl chrNW_004955431:2,780,839...2,889,769 		JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:5,166,451...5,170,263
Ensembl chrNW_004955431:5,166,451...5,170,263 		JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,724,988...2,767,539
Ensembl chrNW_004955431:2,725,742...2,767,664 		JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:5,416,596...5,429,465
Ensembl chrNW_004955431:5,418,103...5,427,463 		JBrowse link
G Cln5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:30,229,632...30,235,677
Ensembl chrNW_004955404:30,229,632...30,235,679 		JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:50,864,017...50,889,249
Ensembl chrNW_004955404:50,863,651...50,889,249 		JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:31,473,054...31,487,169
Ensembl chrNW_004955404:31,473,114...31,477,936 		JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,203,342...2,282,635
Ensembl chrNW_004955431:2,263,698...2,282,635 		JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:34,739,780...35,118,037
Ensembl chrNW_004955404:34,740,026...35,137,490 		JBrowse link
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:44,653,308...45,106,943
Ensembl chrNW_004955404:44,653,501...45,105,966 		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_004955404:33,897,681...33,924,069
Ensembl chrNW_004955404:33,897,237...33,924,069 		JBrowse link
G Dleu7 deleted in lymphocytic leukemia 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:4,205,391...4,220,305
Ensembl chrNW_004955431:4,204,901...4,220,311 		JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:3,114,160...3,122,448
Ensembl chrNW_004955431:3,112,134...3,121,780 		JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:29,394,253...29,425,358
Ensembl chrNW_004955404:29,394,164...29,425,358 		JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:4,585,518...4,633,567
Ensembl chrNW_004955431:4,585,466...4,636,017 		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_004955404:30,215,140...30,229,798
Ensembl chrNW_004955404:30,215,108...30,229,798 		JBrowse link
G Fndc3a fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,553,311...2,696,596
Ensembl chrNW_004955431:2,553,892...2,696,744 		JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:4,728,011...4,810,236
Ensembl chrNW_004955431:4,728,533...4,809,494 		JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:1,928,706...1,935,010
Ensembl chrNW_004955431:1,928,706...1,937,238 		JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:3,395,920...3,402,494 JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:30,325,019...30,330,953
Ensembl chrNW_004955404:30,325,144...30,326,121 		JBrowse link
G Klf12 KLF transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:32,715,636...33,127,525
Ensembl chrNW_004955404:32,854,754...33,118,361 		JBrowse link
G Klf5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:33,642,604...33,665,445
Ensembl chrNW_004955404:33,644,077...33,658,094 		JBrowse link
G Klhl1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:36,304,862...36,696,901
Ensembl chrNW_004955404:36,304,326...36,697,236 		JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:3,147,679...3,176,577
Ensembl chrNW_004955431:3,147,679...3,212,306 		JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:31,197,156...31,388,571
Ensembl chrNW_004955404:31,196,312...31,388,258 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,077,093...2,079,000
Ensembl chrNW_004955431:2,077,269...2,078,300 		JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:1,794,863...1,812,641
Ensembl chrNW_004955431:1,794,115...1,812,889 		JBrowse link
G Mlnr motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,711,418...2,719,062
Ensembl chrNW_004955431:2,710,962...2,713,603 		JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:29,932,125...30,186,236
Ensembl chrNW_004955404:29,932,125...30,186,236 		JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:33,945,576...33,961,922
Ensembl chrNW_004955404:33,944,833...33,962,729 		JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:27,981,215...28,051,238
Ensembl chrNW_004955404:27,979,187...28,051,561 		JBrowse link
G Nek3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:5,382,992...5,412,206
Ensembl chrNW_004955431:5,378,896...5,412,221 		JBrowse link
G Nek5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:5,312,243...5,378,998
Ensembl chrNW_004955431:5,318,987...5,377,398 		JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:1,767,971...1,775,555
Ensembl chrNW_004955431:1,767,525...1,775,555 		JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:28,759,640...28,803,257
Ensembl chrNW_004955404:28,758,918...28,804,972 		JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:50,549,218...50,570,302
Ensembl chrNW_004955404:50,549,151...50,570,305 		JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:46,795,303...46,886,918
Ensembl chrNW_004955404:46,791,148...46,886,918 		JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:43,615,300...43,623,119
Ensembl chrNW_004955404:43,611,537...43,623,286 		JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:50,403,752...50,413,264 JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:38,666,480...39,534,211
Ensembl chrNW_004955404:38,667,015...39,532,423 		JBrowse link
G Phf11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,945,119...2,974,767
Ensembl chrNW_004955431:2,951,722...2,974,131 		JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:33,713,903...33,897,622
Ensembl chrNW_004955404:33,714,193...33,897,622 		JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:28,812,762...28,818,024 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576 		JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:28,116,009...28,198,878
Ensembl chrNW_004955404:28,114,576...28,198,856 		JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,976,283...3,080,665
Ensembl chrNW_004955431:2,976,283...3,080,405 		JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,122,640...2,170,222
Ensembl chrNW_004955431:2,129,006...2,162,854 		JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:4,291,687...4,368,169
Ensembl chrNW_004955431:4,291,688...4,351,178 		JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:29,619,710...29,727,873
Ensembl chrNW_004955404:29,620,693...29,728,006 		JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:4,694,654...4,727,080
Ensembl chrNW_004955431:4,694,654...4,727,080 		JBrowse link
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,899,849...2,943,091
Ensembl chrNW_004955431:2,813,602...2,945,323 		JBrowse link
G Slain1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:29,537,497...29,594,617
Ensembl chrNW_004955404:29,535,923...29,595,141 		JBrowse link
G Slitrk1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:24,436,394...24,439,749
Ensembl chrNW_004955404:24,437,299...24,439,389 		JBrowse link
G Slitrk6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:22,738,080...22,744,601
Ensembl chrNW_004955404:22,737,974...22,745,046 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:27,349,286...27,353,706
Ensembl chrNW_004955404:27,349,519...27,353,706 		JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:3,303,091...3,330,360
Ensembl chrNW_004955431:3,303,091...3,324,994 		JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:1,678,720...1,737,234
Ensembl chrNW_004955431:1,676,362...1,737,489 		JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:50,916,715...50,947,619
Ensembl chrNW_004955404:50,917,177...50,947,522 		JBrowse link
G Tbc1d4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:31,516,727...31,691,414
Ensembl chrNW_004955404:31,622,102...31,691,517 		JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:44,329,159...44,457,958
Ensembl chrNW_004955404:44,328,795...44,457,784 		JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:5,472,209...5,495,937
Ensembl chrNW_004955431:5,472,287...5,495,995 		JBrowse link
G Trim13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:3,324,331...3,395,724
Ensembl chrNW_004955431:3,324,331...3,395,724 		JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:31,414,076...31,465,205
Ensembl chrNW_004955404:31,414,208...31,464,968 		JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:5,443,050...5,466,577
Ensembl chrNW_004955431:5,443,050...5,463,366 		JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:4,809,405...5,086,647
Ensembl chrNW_004955431:4,912,954...5,060,304 		JBrowse link
chromosome 15q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apba2 amyloid beta precursor protein binding family A member 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:29,390,601...29,591,815
Ensembl chrNW_004955416:29,390,362...29,581,094 		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_004955533:3,413,607...3,533,834
Ensembl chrNW_004955533:3,413,607...3,533,834 		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_004955456:10,294,525...11,417,761
Ensembl chrNW_004955456:10,296,377...10,322,455 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chrNW_004955416:30,687,518...30,798,700
Ensembl chrNW_004955416:30,687,478...30,798,700 		JBrowse link
G Cluh clustered mitochondria homolog ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955481:583,554...606,566
Ensembl chrNW_004955481:583,398...605,373 		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_004955416:29,103,925...29,389,149
Ensembl chrNW_004955416:29,161,695...29,386,111 		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_004955533:2,563,499...2,631,086
Ensembl chrNW_004955533:2,563,319...2,631,289 		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_004955533:2,879,437...2,938,952
Ensembl chrNW_004955533:2,573,599...2,938,952 		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_004955533:1,962,175...2,495,877
Ensembl chrNW_004955533:1,962,273...2,495,876 		JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955533:1,304,675...1,489,041
Ensembl chrNW_004955533:1,304,675...1,489,041 		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_004955416:31,091,306...31,095,420
Ensembl chrNW_004955416:31,091,151...31,095,484 		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_004955416:31,052,939...31,054,615 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_004955416:31,125,354...31,127,010
Ensembl chrNW_004955416:31,125,924...31,126,889 		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_004955533:1,244,232...1,304,497
Ensembl chrNW_004955533:1,249,500...1,284,588 		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_004955533:1,204,429...1,223,512
Ensembl chrNW_004955533:1,204,429...1,223,519 		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_004955416:29,261,347...29,262,696 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_004955533:1,522,878...1,796,673
Ensembl chrNW_004955533:1,522,795...1,797,116 		JBrowse link
G Otud7a OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chrNW_004955416:30,244,875...30,427,829 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_004955481:608,897...686,454
Ensembl chrNW_004955481:608,897...686,452 		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_004955481:296,411...537,490
Ensembl chrNW_004955481:299,919...537,577 		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_004955416:31,668,789...31,674,144
Ensembl chrNW_004955416:31,668,736...31,677,219 		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_004955416:31,655,664...31,668,803
Ensembl chrNW_004955416:31,655,664...31,668,803 		JBrowse link
G Tjp1 tight junction protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:28,640,807...28,869,717
Ensembl chrNW_004955416:28,654,905...28,870,555 		JBrowse link
G Ube3a ubiquitin protein ligase E3A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955533:3,733,148...3,828,353
Ensembl chrNW_004955533:3,733,148...3,821,577 		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_004955416:30,687,518...30,798,700
Ensembl chrNW_004955416:30,687,478...30,798,700 		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_004955416:29,722,280...29,757,960
Ensembl chrNW_004955416:29,722,280...29,757,742 		JBrowse link
G Klf13 KLF transcription factor 13 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:30,087,705...30,137,437 JBrowse link
G Mtmr10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:29,758,048...29,803,701
Ensembl chrNW_004955416:29,758,048...29,805,029 		JBrowse link
G Otud7a OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:30,244,875...30,427,829 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_004955416:29,846,374...29,880,922
Ensembl chrNW_004955416:29,814,077...29,939,344 		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_004955450:2,614,377...2,617,064
Ensembl chrNW_004955450:2,614,261...2,617,324 		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_004955450:2,891,920...2,895,009
Ensembl chrNW_004955450:2,892,125...2,893,666 		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_004955450:2,631,310...2,663,118
Ensembl chrNW_004955450:2,631,327...2,662,269 		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_004955450:2,690,814...2,692,336 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_004955450:2,872,577...2,882,743
Ensembl chrNW_004955450:2,872,580...2,882,743 		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_004955450:2,883,344...2,889,593
Ensembl chrNW_004955450:2,883,560...2,887,736 		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_004955450:2,725,755...2,796,390
Ensembl chrNW_004955450:2,725,755...2,796,390 		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_004955450:2,804,551...2,870,450
Ensembl chrNW_004955450:2,808,130...2,870,450 		JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chrNW_004955450:2,701,496...2,720,971
Ensembl chrNW_004955450:2,691,617...2,722,150 		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_004955450:2,669,993...2,682,503
Ensembl chrNW_004955450:2,669,993...2,682,503 		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_004955416:27,128,066...27,434,826
Ensembl chrNW_004955416:27,130,559...27,434,747 		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_004955416:27,823,611...27,858,112
Ensembl chrNW_004955416:27,823,611...27,858,173 		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_004955416:27,610,011...27,649,186
Ensembl chrNW_004955416:27,610,011...27,649,356 		JBrowse link
G Cers3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:27,461,950...27,577,145
Ensembl chrNW_004955416:27,461,335...27,536,188 		JBrowse link
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:28,070,981...28,136,848
Ensembl chrNW_004955416:28,070,710...28,135,590 		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_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666 		JBrowse link
G Lins1 lines homolog 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:27,585,172...27,609,780
Ensembl chrNW_004955416:27,586,257...27,595,117 		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_004955416:26,668,712...26,786,945
Ensembl chrNW_004955416:26,668,712...26,789,756 		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_004955416:27,860,934...27,988,279
Ensembl chrNW_004955416:27,865,784...27,988,279 		JBrowse link
G Lysmd4 LysM domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:27,057,845...27,063,459
Ensembl chrNW_004955416:27,059,941...27,063,459 		JBrowse link
G Mef2a myocyte enhancer factor 2A ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:26,926,753...27,051,171
Ensembl chrNW_004955416:26,953,798...27,051,171 		JBrowse link
G Pgpep1l pyroglutamyl-peptidase I like ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:26,069,466...26,094,419 JBrowse link
G Synm synemin ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:26,554,074...26,579,804
Ensembl chrNW_004955416:26,554,703...26,578,761 		JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:26,583,219...26,664,519
Ensembl chrNW_004955416:26,583,648...26,657,059 		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_004955493:6,559,995...6,578,461
Ensembl chrNW_004955493:6,559,995...6,578,461 		JBrowse link
G Atxn2l ataxin 2 like ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chrNW_004955493:6,626,106...6,637,678
Ensembl chrNW_004955493:6,626,106...6,637,681 		JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chrNW_004955493:6,540,160...6,544,077 JBrowse link
G Lat linker for activation of T cells ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chrNW_004955493:6,501,504...6,506,089
Ensembl chrNW_004955493:6,499,311...6,507,543 		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_004955493:6,522,604...6,527,999 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_004955493:6,548,951...6,560,039
Ensembl chrNW_004955493:6,549,111...6,559,577 		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_004955493:6,583,415...6,592,690
Ensembl chrNW_004955493:6,583,415...6,592,452 		JBrowse link
G Spns1 SPNS lysolipid transporter 1, lysophospholipid ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chrNW_004955493:6,506,449...6,514,308
Ensembl chrNW_004955493:6,505,230...6,514,307 		JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chrNW_004955493:6,619,205...6,623,780
Ensembl chrNW_004955493:6,619,205...6,623,780 		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_004955493:6,904,931...6,910,682
Ensembl chrNW_004955493:6,904,091...6,908,959 		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_004955493:7,055,944...7,076,802
Ensembl chrNW_004955493:7,055,944...7,059,582 		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_004955493:6,559,995...6,578,461
Ensembl chrNW_004955493:6,559,995...6,578,461 		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_004955493:6,626,106...6,637,678
Ensembl chrNW_004955493:6,626,106...6,637,681 		JBrowse link
G Bola2b bolA family member 2B ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955493:6,812,208...6,812,932 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_004955493:6,540,160...6,544,077 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_004955493:7,087,491...7,091,306
Ensembl chrNW_004955493:7,087,491...7,092,809 		JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955493:6,815,148...6,820,295
Ensembl chrNW_004955493:6,811,430...6,826,485 		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_004955493:6,940,226...6,941,290
Ensembl chrNW_004955493:6,940,226...6,941,290 		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_004955493:6,948,089...6,953,835
Ensembl chrNW_004955493:6,947,512...6,953,835 		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_004955493:6,876,943...6,883,716
Ensembl chrNW_004955493:6,877,486...6,883,698 		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_004955493:6,964,576...6,967,234
Ensembl chrNW_004955493:6,964,598...6,967,016 		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_004955493:6,953,945...6,963,910
Ensembl chrNW_004955493:6,949,534...6,964,366 		JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955493:7,039,027...7,055,798
Ensembl chrNW_004955493:7,038,698...7,055,798 		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_004955493:7,155,307...7,173,576
Ensembl chrNW_004955493:7,154,728...7,173,516 		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_004955493:6,501,504...6,506,089
Ensembl chrNW_004955493:6,499,311...6,507,543 		JBrowse link
G LOC102010497 chromosome unknown open reading frame, human C16orf54 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955493:7,204,452...7,207,168
Ensembl chrNW_004955493:7,204,576...7,207,907 		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_004955493:6,870,699...6,876,836
Ensembl chrNW_004955493:6,869,668...6,879,152 		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_004955493:7,149,600...7,152,449 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_004955493:7,113,194...7,141,944
Ensembl chrNW_004955493:7,113,319...7,143,582 		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_004955493:6,522,604...6,527,999 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_004955493:7,142,048...7,144,836
Ensembl chrNW_004955493:7,142,272...7,144,389 		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_004955493:6,894,849...6,901,344
Ensembl chrNW_004955493:6,894,849...6,901,344 		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_004955493:7,144,389...7,148,613 JBrowse link
G Qprt quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955493:7,225,472...7,243,078
Ensembl chrNW_004955493:7,224,983...7,242,852 		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_004955493:6,548,951...6,560,039
Ensembl chrNW_004955493:6,549,111...6,559,577 		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_004955493:7,059,865...7,080,524
Ensembl chrNW_004955493:7,059,865...7,081,038 		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_004955493:6,583,415...6,592,690
Ensembl chrNW_004955493:6,583,415...6,592,452 		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_004955493:6,797,913...6,800,555 JBrowse link
G Spn sialophorin ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955493:7,256,505...7,258,607 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_004955493:6,506,449...6,514,308
Ensembl chrNW_004955493:6,505,230...6,514,307 		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_004955493:6,968,537...6,986,608
Ensembl chrNW_004955493:6,969,096...6,985,878 		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_004955493:6,888,832...6,894,840
Ensembl chrNW_004955493:6,888,832...6,894,831 		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_004955493:6,929,477...6,940,109
Ensembl chrNW_004955493:6,929,477...6,942,227 		JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955493:6,987,621...6,999,219
Ensembl chrNW_004955493:6,987,621...6,999,219 		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_004955493:6,619,205...6,623,780
Ensembl chrNW_004955493:6,619,205...6,623,780 		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_004955493:6,885,050...6,888,729
Ensembl chrNW_004955493:6,885,052...6,888,729 		JBrowse link
G Zg16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955493:7,183,096...7,201,750
Ensembl chrNW_004955493:7,181,555...7,184,589 		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_004955493:982,559...1,006,117
Ensembl chrNW_004955493:983,554...1,006,115 		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_004955493:865,830...922,765
Ensembl chrNW_004955493:865,830...922,765 		JBrowse link
G LOC102007781 cytochrome b-c1 complex subunit 2, mitochondrial ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chrNW_004955493:655,619...689,705
Ensembl chrNW_004955493:655,619...689,705 		JBrowse link
G Mosmo modulator of smoothened ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chrNW_004955493:760,729...771,996 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_004955493:690,694...705,953
Ensembl chrNW_004955493:690,909...705,959 		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_004955493:933,381...962,314
Ensembl chrNW_004955493:933,381...962,314 		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_004955493:834,582...849,058
Ensembl chrNW_004955493:834,582...849,058 		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_004955493:780,808...829,768
Ensembl chrNW_004955493:781,031...829,957 		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_004955484:9,022,520...9,025,446
Ensembl chrNW_004955484:9,022,520...9,025,446 		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_004955484:9,025,409...9,037,942
Ensembl chrNW_004955484:9,025,460...9,037,580 		JBrowse link
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955484:9,041,226...9,092,924
Ensembl chrNW_004955484:9,042,524...9,064,927 		JBrowse link
G CUNH16orf86 chromosome unknown C16orf86 homolog ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955484:9,013,743...9,015,836
Ensembl chrNW_004955484:9,013,890...9,015,520 		JBrowse link
G Enkd1 enkurin domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955484:9,015,744...9,019,781
Ensembl chrNW_004955484:9,016,049...9,019,568 		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_004955484:8,963,297...9,009,791
Ensembl chrNW_004955484:8,963,297...9,009,791 		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_004955484:9,019,929...9,022,561
Ensembl chrNW_004955484:9,019,929...9,021,995 		JBrowse link
G Ranbp10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955484:8,889,349...8,960,122
Ensembl chrNW_004955484:8,889,349...8,960,122 		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_004955478:10,039,687...10,221,170
Ensembl chrNW_004955478:10,040,284...10,221,170 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14961032 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928 		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_004955481:7,111,760...7,122,800 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_004955451:929,278...1,033,665
Ensembl chrNW_004955451:929,510...1,033,492 		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_004955451:679,033...909,892
Ensembl chrNW_004955451:600,254...909,892 		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_004955451:617,281...645,926
Ensembl chrNW_004955451:617,412...646,448 		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_004955451:409,827...437,757
Ensembl chrNW_004955451:409,249...438,951 		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_004955451:1,335,134...1,343,271
Ensembl chrNW_004955451:1,333,384...1,343,271 		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_004955451:515,889...537,762
Ensembl chrNW_004955451:515,889...535,017 		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_004955451:1,345,720...1,386,100
Ensembl chrNW_004955451:1,345,626...1,386,099 		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_004955451:320,283...371,420
Ensembl chrNW_004955451:320,283...371,420 		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_004955451:1,037,936...1,048,501
Ensembl chrNW_004955451:1,037,825...1,048,501 		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_004955451:1,328,065...1,334,438
Ensembl chrNW_004955451:1,325,243...1,334,438 		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_004955451:13,518,240...13,541,981
Ensembl chrNW_004955451:13,518,075...13,541,981 		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_004955451:1,391,793...1,436,514
Ensembl chrNW_004955451:1,392,645...1,436,514 		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_004955451:1,388,474...1,391,671
Ensembl chrNW_004955451:1,388,474...1,391,559 		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_004955451:439,205...510,675
Ensembl chrNW_004955451:438,904...510,136 		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_004955451:548,373...599,739
Ensembl chrNW_004955451:549,028...587,996 		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_004955451:1,436,440...1,444,484
Ensembl chrNW_004955451:1,436,440...1,444,484 		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_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511 		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_004955402:1,037,414...1,069,165
Ensembl chrNW_004955402:1,037,402...1,069,165 		JBrowse link
G Akain1 A-kinase anchor inhibitor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:5,814,876...5,864,612 JBrowse link
G Ankrd12 ankyrin repeat domain 12 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:2,705,252...2,799,682
Ensembl chrNW_004955402:2,705,261...2,799,682 		JBrowse link
G Apcdd1 APC down-regulated 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:1,932,685...1,947,680
Ensembl chrNW_004955402:1,930,037...1,947,765 		JBrowse link
G Arhgap28 Rho GTPase activating protein 28 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:4,417,978...4,531,683
Ensembl chrNW_004955402:4,418,201...4,490,146 		JBrowse link
G Cep192 centrosomal protein 192 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:604,605...675,179
Ensembl chrNW_004955402:603,439...659,316 		JBrowse link
G Cep76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:870,090...888,577
Ensembl chrNW_004955402:870,090...888,577 		JBrowse link
G Chmp1b charged multivesicular body protein 1B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:1,196,912...1,199,480 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_004955402:1,090,372...1,096,621
Ensembl chrNW_004955402:1,090,518...1,096,569 		JBrowse link
G Dlgap1 DLG associated protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:6,809,126...7,105,356
Ensembl chrNW_004955402:6,451,864...7,105,411 		JBrowse link
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:7,507,674...7,519,978
Ensembl chrNW_004955402:7,508,159...7,519,977 		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_004955402:5,459,586...5,674,745
Ensembl chrNW_004955402:5,590,724...5,675,340 		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_004955402:344,191...367,851
Ensembl chrNW_004955402:343,371...367,252 		JBrowse link
G Gnal G protein subunit alpha L ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:1,182,515...1,249,301
Ensembl chrNW_004955402:1,181,133...1,248,616 		JBrowse link
G Impa2 inositol monophosphatase 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:1,119,376...1,143,589
Ensembl chrNW_004955402:1,121,838...1,143,507 		JBrowse link
G L3mbtl4 L3MBTL histone methyl-lysine binding protein 4 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:4,927,453...5,168,415 JBrowse link
G Lama1 laminin subunit alpha 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:4,281,415...4,397,158
Ensembl chrNW_004955402:4,285,492...4,400,348 		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_004955402:384,177...508,876 JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:7,457,408...7,505,829
Ensembl chrNW_004955402:7,472,538...7,504,231 		JBrowse link
G Lrrc30 leucine rich repeat containing 30 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:4,174,990...4,178,170
Ensembl chrNW_004955402:4,175,557...4,176,462 		JBrowse link
G Mc2r melanocortin 2 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:190,513...225,627
Ensembl chrNW_004955402:190,513...225,627 		JBrowse link
G Mc5r melanocortin 5 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:283,388...286,884 JBrowse link
G Mppe1 metallophosphoesterase 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:1,167,711...1,182,410
Ensembl chrNW_004955402:1,172,704...1,181,908 		JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:2,980,539...3,076,283
Ensembl chrNW_004955402:2,979,547...3,076,283 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:7,293,415...7,418,226
Ensembl chrNW_004955402:7,297,502...7,417,583 		JBrowse link
G Napg NSF attachment protein gamma ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:1,888,301...1,908,895
Ensembl chrNW_004955402:1,888,133...1,908,895 		JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:2,802,366...2,818,049
Ensembl chrNW_004955402:2,800,447...2,818,375 		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_004955402:1,534,619...1,873,143
Ensembl chrNW_004955402:1,650,726...1,871,876 		JBrowse link
G Ppp4r1 protein phosphatase 4 regulatory subunit 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:2,529,335...2,568,621
Ensembl chrNW_004955402:2,515,057...2,568,860 		JBrowse link
G Prelid3a PRELI domain containing 3A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:1,016,977...1,027,063
Ensembl chrNW_004955402:1,016,977...1,025,147 		JBrowse link
G Psmg2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:857,228...870,940
Ensembl chrNW_004955402:857,432...869,983 		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_004955402:771,410...846,671 JBrowse link
G Ptprm protein tyrosine phosphatase receptor type M ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:3,243,447...3,756,457
Ensembl chrNW_004955402:3,244,222...3,756,925 		JBrowse link
G Rab12 RAB12, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:3,102,709...3,109,701
Ensembl chrNW_004955402:3,103,708...3,110,701 		JBrowse link
G Rab31 RAB31, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:2,354,399...2,446,537
Ensembl chrNW_004955402:2,354,646...2,446,453 		JBrowse link
G Ralbp1 ralA binding protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:2,571,672...2,616,040
Ensembl chrNW_004955402:2,569,637...2,616,040 		JBrowse link
G Rnmt RNA guanine-7 methyltransferase ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:319,520...344,129 JBrowse link
G Seh1l SEH1 like nucleoporin ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:679,109...698,624
Ensembl chrNW_004955402:681,436...698,624 		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_004955402:7,544,265...7,661,191
Ensembl chrNW_004955402:7,544,265...7,649,067 		JBrowse link
G Spire1 spire type actin nucleation factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:920,730...1,011,339
Ensembl chrNW_004955402:920,308...1,011,332 		JBrowse link
G Tgif1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:7,130,809...7,138,945
Ensembl chrNW_004955402:7,129,484...7,138,340 		JBrowse link
G Tmem200c transmembrane protein 200C ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:5,235,381...5,248,845 JBrowse link
G Tubb6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:1,071,135...1,081,385
Ensembl chrNW_004955402:1,070,858...1,081,385 		JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:2,652,020...2,685,350
Ensembl chrNW_004955402:2,652,020...2,686,117 		JBrowse link
G Txndc2 thioredoxin domain containing 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:2,339,130...2,341,283 JBrowse link
G Vapa VAMP associated protein A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004955402:2,274,248...2,309,461
Ensembl chrNW_004955402:2,270,850...2,298,227 		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_004955402:5,750,877...5,757,370
Ensembl chrNW_004955402:5,750,877...5,757,370 		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_004955402:63,312,588...63,346,307
Ensembl chrNW_004955402:63,311,741...63,347,641 		JBrowse link
G Ankrd29 ankyrin repeat domain 29 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:11,751,417...11,775,499 JBrowse link
G Aqp4 aquaporin 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709 		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_004955402:31,867,651...31,975,930
Ensembl chrNW_004955402:31,867,645...31,969,804 		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_004955402:31,717,996...31,810,401
Ensembl chrNW_004955402:31,717,533...31,810,401 		JBrowse link
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:20,571,209...20,704,480
Ensembl chrNW_004955402:20,605,804...20,702,054 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:31,652,226...31,662,114
Ensembl chrNW_004955402:31,651,960...31,662,762 		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_004955402:62,231,875...62,537,311
Ensembl chrNW_004955402:62,231,875...62,537,311 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:18,945,013...19,024,132
Ensembl chrNW_004955402:18,942,872...19,024,132 		JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485 		JBrowse link
G Cabyr calcium binding tyrosine phosphorylation regulated ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:12,508,524...12,529,230
Ensembl chrNW_004955402:12,508,538...12,529,230 		JBrowse link
G Cbln2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955402:56,052,340...56,062,190
Ensembl chrNW_004955402:56,051,496...56,062,190 		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_004955402:52,377,366...52,495,386 JBrowse link
G Ccdc178 coiled-coil domain containing 178 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:20,076,834...20,429,089
Ensembl chrNW_004955402:20,076,826...20,429,151 		JBrowse link
G Cd226 CD226 molecule ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955402:53,408,861...53,560,896
Ensembl chrNW_004955402:53,473,131...53,560,924 		JBrowse link
G Cdh19 cadherin 19 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955402:50,110,907...50,213,882
Ensembl chrNW_004955402:50,112,516...50,213,896 		JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:15,829,895...16,049,874
Ensembl chrNW_004955402:15,831,110...16,049,890 		JBrowse link
G Cdh20 cadherin 20 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955402:45,340,824...45,543,088
Ensembl chrNW_004955402:45,340,223...45,543,256 		JBrowse link
G Cdh7 cadherin 7 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955402:49,444,814...49,568,653
Ensembl chrNW_004955402:49,444,814...49,562,803 		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_004955402:23,607,160...23,898,495
Ensembl chrNW_004955402:23,617,421...23,898,347 		JBrowse link
G Chst9 carbohydrate sulfotransferase 9 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:14,892,707...15,115,846
Ensembl chrNW_004955402:14,894,169...15,114,731 		JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955402:57,970,205...58,019,980
Ensembl chrNW_004955402:57,970,161...58,019,479 		JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955402:57,939,003...57,960,056
Ensembl chrNW_004955402:57,938,276...57,960,056 		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_004955402:62,817,822...62,914,250
Ensembl chrNW_004955402:62,817,974...62,914,276 		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_004955402:33,706,824...33,986,476
Ensembl chrNW_004955402:33,706,788...33,987,583 		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_004955402:57,753,626...57,805,255
Ensembl chrNW_004955402:57,753,018...57,805,495 		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_004955402:57,878,727...57,899,315 JBrowse link
G Dok6 docking protein 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955402:53,029,311...53,454,223
Ensembl chrNW_004955402:53,029,420...53,448,138 		JBrowse link
G Dsc1 desmocollin 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:18,514,657...18,543,449
Ensembl chrNW_004955402:18,513,817...18,543,720 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:18,465,631...18,496,948
Ensembl chrNW_004955402:18,464,989...18,489,475 		JBrowse link
G Dsc3 desmocollin 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:18,401,065...18,439,827
Ensembl chrNW_004955402:18,399,220...18,439,878 		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_004955402:51,017,963...51,023,508
Ensembl chrNW_004955402:51,017,963...51,023,508 		JBrowse link
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:18,668,717...18,704,329
Ensembl chrNW_004955402:18,668,196...18,700,630 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:18,826,400...18,876,188 JBrowse link
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:18,781,511...18,811,675
Ensembl chrNW_004955402:18,790,243...18,810,305 		JBrowse link
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:18,724,959...18,754,232
Ensembl chrNW_004955402:18,715,893...18,753,028 		JBrowse link
G Dtna dystrobrevin alpha ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:21,414,122...21,676,389
Ensembl chrNW_004955402:21,315,889...21,673,044 		JBrowse link
G Dym dymeclin ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:34,150,783...34,541,944
Ensembl chrNW_004955402:34,150,783...34,542,507 		JBrowse link
G Elp2 elongator acetyltransferase complex subunit 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:22,698,817...22,742,691
Ensembl chrNW_004955402:22,698,881...22,742,615 		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_004955402:31,422,848...31,532,189
Ensembl chrNW_004955402:31,422,848...31,532,289 		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_004955402:57,524,726...57,586,198
Ensembl chrNW_004955402:57,523,696...57,586,251 		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_004955402:22,822,060...23,277,993
Ensembl chrNW_004955402:22,821,710...23,279,222 		JBrowse link
G Galnt1 polypeptide N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:22,311,045...22,381,527
Ensembl chrNW_004955402:22,319,198...22,379,435 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955402:60,449,660...60,559,549
Ensembl chrNW_004955402:60,546,186...60,559,298 		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_004955402:19,469,652...19,663,654
Ensembl chrNW_004955402:19,469,649...19,663,654 		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_004955402:31,664,281...31,678,976
Ensembl chrNW_004955402:31,663,847...31,679,253 		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_004955402:32,495,053...32,529,284
Ensembl chrNW_004955402:32,494,824...32,529,233 		JBrowse link
G Hrh4 histamine receptor H4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:12,809,164...12,826,952
Ensembl chrNW_004955402:12,809,146...12,824,226 		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_004955402:32,532,692...32,550,638
Ensembl chrNW_004955402:32,532,629...32,550,710 		JBrowse link
G Impact impact RWD domain protein ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:12,752,748...12,781,238
Ensembl chrNW_004955402:12,752,432...12,779,299 		JBrowse link
G Ino80c INO80 complex subunit C ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:22,189,943...22,210,315
Ensembl chrNW_004955402:22,189,943...22,210,658 		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_004955402:32,407,994...32,490,009
Ensembl chrNW_004955402:32,407,745...32,490,009 		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_004955402:62,997,807...63,033,813 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_004955402:14,478,702...14,573,154
Ensembl chrNW_004955402:14,474,259...14,670,329 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955402:47,092,779...47,130,131
Ensembl chrNW_004955402:47,092,779...47,130,132 		JBrowse link
G Kiaa1328 KIAA1328 ortholog ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:23,298,244...23,591,420
Ensembl chrNW_004955402:23,306,672...23,589,057 		JBrowse link
G Klhl14 kelch like family member 14 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:19,841,255...19,932,774
Ensembl chrNW_004955402:19,841,194...19,932,774 		JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:11,980,980...12,362,143 JBrowse link
G LOC102007956 chromosome unknown open reading frame, human C18orf21 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:22,573,130...22,580,293
Ensembl chrNW_004955402:22,572,551...22,580,207 		JBrowse link
G LOC102012144 cytochrome b5 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955402:57,701,931...57,739,163
Ensembl chrNW_004955402:57,701,931...57,739,163 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:31,985,616...32,144,040
Ensembl chrNW_004955402:31,985,583...32,144,040 		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_004955402:21,746,957...21,905,647
Ensembl chrNW_004955402:21,748,709...21,906,431 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955402:60,324,060...60,448,926
Ensembl chrNW_004955402:60,323,950...60,441,406 		JBrowse link
G Mc4r melanocortin 4 receptor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 NCBI chrNW_004955402:44,453,973...44,456,689
Ensembl chrNW_004955402:44,455,294...44,456,292 		JBrowse link
G Mep1b meprin A subunit beta ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:19,404,026...19,432,724
Ensembl chrNW_004955402:19,404,096...19,433,044 		JBrowse link
G Mocos molybdenum cofactor sulfurase ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:22,754,034...22,808,428
Ensembl chrNW_004955402:22,754,064...22,808,167 		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_004955402:56,262,137...56,376,105
Ensembl chrNW_004955402:56,262,137...56,376,142 		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_004955402:62,558,392...62,674,347
Ensembl chrNW_004955402:62,558,286...62,674,457 		JBrowse link
G Nol4 nucleolar protein 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:20,781,485...21,106,508
Ensembl chrNW_004955402:20,780,251...21,106,508 		JBrowse link
G Osbpl1a oxysterol binding protein like 1A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:12,530,130...12,718,703
Ensembl chrNW_004955402:12,530,135...12,718,703 		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_004955402:63,374,837...63,459,327
Ensembl chrNW_004955402:63,374,837...63,459,333 		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_004955402:46,563,918...46,773,349
Ensembl chrNW_004955402:46,666,599...46,772,387 		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_004955402:32,263,616...32,358,532
Ensembl chrNW_004955402:32,270,348...32,358,312 		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_004955402:45,979,577...46,114,634
Ensembl chrNW_004955402:45,983,826...46,114,752 		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_004955402:28,081,150...28,195,305
Ensembl chrNW_004955402:28,081,098...28,196,252 		JBrowse link
G Psma8 proteasome 20S subunit alpha 8 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:14,230,119...14,278,987
Ensembl chrNW_004955402:14,230,204...14,278,508 		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_004955402:31,538,335...31,637,901
Ensembl chrNW_004955402:31,536,822...31,637,512 		JBrowse link
G Ptgr3 prostaglandin reductase 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955402:58,634,433...58,642,498
Ensembl chrNW_004955402:58,632,530...58,642,007 		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_004955402:63,213,097...63,224,252
Ensembl chrNW_004955402:63,213,081...63,230,907 		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_004955402:46,114,835...46,226,330
Ensembl chrNW_004955402:46,115,066...46,224,752 		JBrowse link
G Rit2 Ras like without CAAX 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:28,737,882...29,137,006
Ensembl chrNW_004955402:28,737,575...29,078,777 		JBrowse link
G Rnf125 ring finger protein 125 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:19,276,157...19,310,605
Ensembl chrNW_004955402:19,295,809...19,309,987 		JBrowse link
G Rnf138 ring finger protein 138 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:19,344,480...19,358,799
Ensembl chrNW_004955402:19,330,961...19,358,799 		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_004955402:45,774,565...45,846,649
Ensembl chrNW_004955402:45,774,565...45,846,518 		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_004955402:22,584,600...22,646,046
Ensembl chrNW_004955402:22,584,600...22,646,046 		JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955402:53,600,985...53,753,218
Ensembl chrNW_004955402:53,600,985...53,753,459 		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_004955402:62,157,988...62,163,977
Ensembl chrNW_004955402:62,157,970...62,163,057 		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_004955402:47,564,631...47,585,486
Ensembl chrNW_004955402:47,564,492...47,585,054 		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_004955402:47,338,874...47,361,485
Ensembl chrNW_004955402:47,342,151...47,360,030 		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_004955402:47,376,973...47,395,267 JBrowse link
G Serpinb2 serpin family B member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955402:47,707,182...47,720,688
Ensembl chrNW_004955402:47,711,215...47,720,755 		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_004955402:47,248,665...47,276,017
Ensembl chrNW_004955402:47,248,932...47,276,834 		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_004955402:47,599,503...47,649,537
Ensembl chrNW_004955402:47,599,150...47,649,885 		JBrowse link
G Serpinb8 serpin family B member 8 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955402:47,761,900...47,781,281
Ensembl chrNW_004955402:47,763,322...47,781,523 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:30,380,346...30,738,869
Ensembl chrNW_004955402:30,380,346...30,734,144 		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_004955402:31,403,765...31,418,954
Ensembl chrNW_004955402:31,403,965...31,417,386 		JBrowse link
G Skor2 SKI family transcriptional corepressor 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:32,577,189...32,618,611
Ensembl chrNW_004955402:32,582,575...32,618,436 		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_004955402:31,320,897...31,343,774
Ensembl chrNW_004955402:31,320,591...31,343,829 		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_004955402:30,877,808...31,283,983
Ensembl chrNW_004955402:31,115,937...31,285,228 		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_004955402:22,670,598...22,698,455
Ensembl chrNW_004955402:22,670,437...22,698,591 		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_004955402:63,035,932...63,073,981
Ensembl chrNW_004955402:63,035,932...63,073,980 		JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:33,131,760...33,217,144
Ensembl chrNW_004955402:33,136,778...33,216,844 		JBrowse link
G Smad7 SMAD family member 7 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:34,028,184...34,058,949
Ensembl chrNW_004955402:34,028,063...34,058,291 		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_004955402:53,847,859...53,876,245
Ensembl chrNW_004955402:53,852,510...53,876,245 		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_004955402:14,140,261...14,210,467
Ensembl chrNW_004955402:14,140,261...14,210,467 		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_004955402:32,165,912...32,232,683
Ensembl chrNW_004955402:32,165,912...32,232,674 		JBrowse link
G Syt4 synaptotagmin 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:29,195,124...29,204,816
Ensembl chrNW_004955402:29,193,455...29,204,975 		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_004955402:14,296,202...14,425,298
Ensembl chrNW_004955402:14,296,202...14,425,321 		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_004955402:57,586,651...57,598,817
Ensembl chrNW_004955402:57,586,998...57,599,869 		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_004955402:52,271,705...52,315,795
Ensembl chrNW_004955402:52,274,800...52,315,634 		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_004955402:46,242,329...46,298,157
Ensembl chrNW_004955402:46,264,164...46,296,368 		JBrowse link
G Tpgs2 tubulin polyglutamylase complex subunit 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:23,286,950...23,319,207
Ensembl chrNW_004955402:23,286,833...23,319,207 		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_004955402:19,130,393...19,223,019
Ensembl chrNW_004955402:19,130,393...19,216,705 		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_004955402:58,695,150...58,717,926 JBrowse link
G Ttc39c tetratricopeptide repeat domain 39C ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:12,408,853...12,503,273
Ensembl chrNW_004955402:12,408,853...12,503,273 		JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:18,921,235...18,927,976
Ensembl chrNW_004955402:18,921,274...18,928,108 		JBrowse link
G Txnl4a thioredoxin like 4A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955402:63,153,274...63,166,208
Ensembl chrNW_004955402:63,153,052...63,166,199 		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_004955402:47,154,350...47,183,979
Ensembl chrNW_004955402:47,154,007...47,184,021 		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_004955402:33,296,387...33,389,901
Ensembl chrNW_004955402:33,296,344...33,543,850 		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_004955402:46,426,432...46,466,064
Ensembl chrNW_004955402:46,426,432...46,464,063 		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_004955402:60,185,687...60,315,589
Ensembl chrNW_004955402:60,185,646...60,315,584 		JBrowse link
G Znf24 zinc finger protein 24 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:22,067,261...22,079,216
Ensembl chrNW_004955402:22,067,261...22,079,216 		JBrowse link
G Znf396 zinc finger protein 396 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:22,087,109...22,095,664
Ensembl chrNW_004955402:22,086,660...22,093,375 		JBrowse link
G Znf397 zinc finger protein 397 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:21,973,687...21,982,202
Ensembl chrNW_004955402:21,974,795...21,978,770 		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_004955402:58,036,270...58,507,506 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_004955402:59,750,682...59,874,987
Ensembl chrNW_004955402:59,752,106...59,874,743 		JBrowse link
G Znf516-dt ZNF516 divergent transcript ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:59,875,642...59,912,201 JBrowse link
G Znf521 zinc finger protein 521 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chrNW_004955402:13,299,670...13,570,188
Ensembl chrNW_004955402:13,299,432...13,571,898 		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_004955468:4,034,776...4,072,766
Ensembl chrNW_004955468:4,034,854...4,072,106 		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_004955486:577,468...586,176
Ensembl chrNW_004955486:577,468...586,176 		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_004955486:9,495,087...9,508,047
Ensembl chrNW_004955486:9,495,186...9,508,214 		JBrowse link
G Acot7 acyl-CoA thioesterase 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:6,188,102...6,258,230
Ensembl chrNW_004955486:6,188,102...6,259,110 		JBrowse link
G Actl8 actin like 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:1,217,950...1,274,453
Ensembl chrNW_004955527:1,217,943...1,274,466 		JBrowse link
G Actrt2 actin related protein T2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:8,465,523...8,466,841
Ensembl chrNW_004955486:8,465,620...8,466,744 		JBrowse link
G Agmat agmatinase (putative) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,563,705...2,572,421
Ensembl chrNW_004955527:2,563,194...2,572,283 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,674,103...9,704,994
Ensembl chrNW_004955486:9,675,214...9,704,991 		JBrowse link
G Agtrap angiotensin II receptor associated protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,137,249...2,149,978
Ensembl chrNW_004955486:2,137,065...2,149,882 		JBrowse link
G Ajap1 adherens junctions associated protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:7,333,663...7,441,686
Ensembl chrNW_004955486:7,333,663...7,441,706 		JBrowse link
G Akr7a2 aldo-keto reductase family 7 member A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955452:6,844...13,868 JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:338,593...369,528
Ensembl chrNW_004955527:338,593...372,872 		JBrowse link
G Angptl7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,539,781...2,545,630
Ensembl chrNW_004955486:2,539,781...2,545,630 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,383,502...9,384,519 JBrowse link
G Arhgef10l Rho guanine nucleotide exchange factor 10 like ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:1,315,509...1,448,306
Ensembl chrNW_004955527:1,314,077...1,448,366 		JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:8,109,291...8,128,184
Ensembl chrNW_004955486:8,109,291...8,123,404 		JBrowse link
G Arhgef19 Rho guanine nucleotide exchange factor 19 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,073,009...2,087,291
Ensembl chrNW_004955527:2,077,806...2,088,880 		JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:1,805,854...1,823,623
Ensembl chrNW_004955527:1,806,009...1,823,344 		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_004955486:9,437,511...9,438,945
Ensembl chrNW_004955486:9,437,958...9,438,857 		JBrowse link
G B3galt6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,553,765...9,555,675
Ensembl chrNW_004955486:9,554,435...9,555,459 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,541,466...9,545,231
Ensembl chrNW_004955486:9,541,367...9,547,097 		JBrowse link
G Ca6 carbonic anhydrase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:4,234,293...4,249,026
Ensembl chrNW_004955486:4,234,235...4,247,876 		JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:5,115,469...5,890,028
Ensembl chrNW_004955486:5,116,677...5,872,167 		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_004955452:34,454...168,514
Ensembl chrNW_004955452:30,589...169,693 		JBrowse link
G Casp9 caspase 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,613,691...2,630,217
Ensembl chrNW_004955527:2,613,683...2,629,738 		JBrowse link
G Casz1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,923,239...2,975,835 JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:7,895,376...7,907,678 JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,423,491...9,432,811
Ensembl chrNW_004955486:9,423,491...9,432,811 		JBrowse link
G Cdk11b cyclin dependent kinase 11B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,251,242...9,270,218 JBrowse link
G Cenps centromere protein S ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:3,157,535...3,167,424
Ensembl chrNW_004955486:3,157,535...3,167,397 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:7,849,921...7,877,598
Ensembl chrNW_004955486:7,853,641...7,876,047 		JBrowse link
G Cfap107 cilia and flagella associated protein 107 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:538,170...551,522
Ensembl chrNW_004955486:538,143...551,488 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:9,056,836...9,107,572
Ensembl chrNW_004955486:9,057,030...9,107,600 		JBrowse link
G Chd5 chromodomain helicase DNA binding protein 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:6,320,380...6,369,020
Ensembl chrNW_004955486:6,320,380...6,369,065 		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_004955486:2,691,850...2,717,340
Ensembl chrNW_004955486:2,674,528...2,717,568 		JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,066,317...2,096,317
Ensembl chrNW_004955486:2,064,916...2,096,317 		JBrowse link
G Clstn1 calsyntenin 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:3,706,969...3,813,858
Ensembl chrNW_004955486:3,780,516...3,813,858 		JBrowse link
G Cort cortistatin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:3,152,745...3,154,956
Ensembl chrNW_004955486:3,152,810...3,154,205 		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_004955527:2,060,063...2,064,152
Ensembl chrNW_004955527:2,060,063...2,064,152 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,475,520...9,478,925
Ensembl chrNW_004955486:9,475,520...9,478,925 		JBrowse link
G Crocc ciliary rootlet coiled-coil, rootletin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:1,833,348...1,874,211
Ensembl chrNW_004955527:1,833,665...1,874,116 		JBrowse link
G Ctrc chymotrypsin C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,714,001...2,719,598
Ensembl chrNW_004955527:2,714,210...2,719,598 		JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,632,940...9,659,682
Ensembl chrNW_004955486:9,638,645...9,659,682 		JBrowse link
G CUNH1orf167 chromosome unknown C1orf167 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,112,698...2,131,296 JBrowse link
G CUNH1orf174 chromosome unknown C1orf174 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:7,821,396...7,834,357
Ensembl chrNW_004955486:7,831,913...7,833,898 		JBrowse link
G Ddi2 DNA damage inducible 1 homolog 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,498,211...2,534,768 JBrowse link
G Dffa DNA fragmentation factor subunit alpha ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:3,273,712...3,274,510 JBrowse link
G Dffb DNA fragmentation factor subunit beta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:7,836,013...7,849,875
Ensembl chrNW_004955486:7,838,273...7,850,180 		JBrowse link
G Dhrs3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:1,439,179...1,473,476
Ensembl chrNW_004955486:1,439,179...1,474,130 		JBrowse link
G Disp3 dispatched RND transporter family member 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,290,413...2,335,193
Ensembl chrNW_004955486:2,291,220...2,317,476 		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_004955486:5,959,083...6,011,177
Ensembl chrNW_004955486:5,980,656...6,011,751 		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_004955527:2,576,861...2,609,925
Ensembl chrNW_004955527:2,577,157...2,609,997 		JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,161,927...2,185,230
Ensembl chrNW_004955486:2,161,913...2,174,013 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,464,390...9,469,984
Ensembl chrNW_004955486:9,464,313...9,469,984 		JBrowse link
G Efhd2 EF-hand domain family member D2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,724,607...2,739,324
Ensembl chrNW_004955527:2,724,500...2,739,324 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:19,069...45,951
Ensembl chrNW_004955527:19,069...45,951 		JBrowse link
G Eno1 enolase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:4,275,371...4,287,152
Ensembl chrNW_004955486:4,274,238...4,289,809 		JBrowse link
G Epha2 EPH receptor A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,120,447...2,151,932
Ensembl chrNW_004955527:2,120,266...2,152,781 		JBrowse link
G Errfi1 ERBB receptor feedback inhibitor 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:4,941,143...4,955,693
Ensembl chrNW_004955486:4,941,143...4,955,693 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:6,130,190...6,156,859 JBrowse link
G Exosc10 exosome component 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,601,362...2,626,451
Ensembl chrNW_004955486:2,601,322...2,626,876 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:8,938,352...8,944,631 JBrowse link
G Fam131c family with sequence similarity 131 member C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,182,624...2,203,063
Ensembl chrNW_004955527:2,182,570...2,207,068 		JBrowse link
G Fblim1 filamin binding LIM protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,399,804...2,418,160
Ensembl chrNW_004955527:2,400,218...2,415,051 		JBrowse link
G Fbxo2 F-box protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,212,001...2,217,260
Ensembl chrNW_004955486:2,212,001...2,218,017 		JBrowse link
G Fbxo42 F-box protein 42 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:1,967,232...2,049,524
Ensembl chrNW_004955527:1,967,232...2,049,524 		JBrowse link
G Fbxo44 F-box protein 44 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,204,470...2,210,604
Ensembl chrNW_004955486:2,204,470...2,210,604 		JBrowse link
G Fbxo6 F-box protein 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,197,296...2,205,947
Ensembl chrNW_004955486:2,197,467...2,201,256 		JBrowse link
G Fhad1 forkhead associated phosphopeptide binding domain 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,756,630...2,879,135
Ensembl chrNW_004955527:2,757,588...2,879,343 		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_004955486:9,301,802...9,303,246 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_004955486:9,035,330...9,039,553
Ensembl chrNW_004955486:9,035,330...9,039,557 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,165,850...9,192,306
Ensembl chrNW_004955486:9,165,850...9,193,066 		JBrowse link
G Gpr153 G protein-coupled receptor 153 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:6,264,321...6,270,979
Ensembl chrNW_004955486:6,264,433...6,269,378 		JBrowse link
G Gpr157 G protein-coupled receptor 157 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:4,172,515...4,188,887
Ensembl chrNW_004955486:4,172,515...4,189,137 		JBrowse link
G H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:4,088,354...4,115,077
Ensembl chrNW_004955486:4,022,306...4,115,077 		JBrowse link
G Hes2 hes family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:6,158,863...6,161,289
Ensembl chrNW_004955486:6,160,231...6,164,379 		JBrowse link
G Hes3 hes family bHLH transcription factor 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:6,272,757...6,273,721
Ensembl chrNW_004955486:6,272,757...6,273,721 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:8,700,212...8,701,581
Ensembl chrNW_004955486:8,700,162...8,701,748 		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_004955527:2,219,462...2,222,824
Ensembl chrNW_004955527:2,219,462...2,222,824 		JBrowse link
G Htr6 5-hydroxytryptamine receptor 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955452:323,641...338,312 JBrowse link
G Icmt isoprenylcysteine carboxyl methyltransferase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:6,280,838...6,289,584
Ensembl chrNW_004955486:6,280,125...6,289,584 		JBrowse link
G Iffo2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:294,950...332,716
Ensembl chrNW_004955527:294,488...333,823 		JBrowse link
G Igsf21 immunoglobin superfamily member 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:773,340...994,679
Ensembl chrNW_004955527:773,340...994,679 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,479,057...9,491,629
Ensembl chrNW_004955486:9,479,057...9,491,629 		JBrowse link
G Isg15 ISG15 ubiquitin like modifier ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,706,878...9,707,876
Ensembl chrNW_004955486:9,706,703...9,707,949 		JBrowse link
G Kazn kazrin, periplakin interacting protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,963,713...3,970,331 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_004955486:6,371,212...6,442,888
Ensembl chrNW_004955486:6,369,288...6,442,885 		JBrowse link
G Kiaa2013 KIAA2013 ortholog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:1,996,057...2,002,308
Ensembl chrNW_004955486:1,953,348...2,002,308 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:3,366,791...3,503,845
Ensembl chrNW_004955486:3,370,596...3,489,052 		JBrowse link
G Klhdc7a kelch domain containing 7A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:689,631...696,250 JBrowse link
G Klhl17 kelch like family member 17 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,745,162...9,750,874
Ensembl chrNW_004955486:9,745,162...9,750,874 		JBrowse link
G Klhl21 kelch like family member 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:6,038,291...6,047,814 JBrowse link
G Lrrc38 leucine rich repeat containing 38 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:4,265,027...4,288,222
Ensembl chrNW_004955527:4,265,792...4,288,232 		JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:7,880,259...7,890,709
Ensembl chrNW_004955486:7,880,259...7,889,274 		JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:3,655,745...3,666,828
Ensembl chrNW_004955486:3,655,812...3,666,828 		JBrowse link
G Mad2l2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,191,903...2,197,193
Ensembl chrNW_004955486:2,191,903...2,198,538 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,641,730...2,655,125 JBrowse link
G Megf6 multiple EGF like domains 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:8,029,200...8,103,395
Ensembl chrNW_004955486:8,029,200...8,102,876 		JBrowse link
G Mfap2 microfibril associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:1,826,528...1,832,058
Ensembl chrNW_004955527:1,826,528...1,832,052 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:1,937,873...1,962,577
Ensembl chrNW_004955486:1,937,802...1,962,772 		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_004955486:9,273,580...9,285,682
Ensembl chrNW_004955486:9,271,099...9,285,682 		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_004955452:248,892...289,711
Ensembl chrNW_004955452:248,974...289,480 		JBrowse link
G Miip migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:1,922,569...1,930,621
Ensembl chrNW_004955486:1,922,738...1,931,239 		JBrowse link
G Mmel1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:8,635,727...8,662,793
Ensembl chrNW_004955486:8,638,233...8,663,053 		JBrowse link
G Mmp23b matrix metallopeptidase 23B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,270,588...9,272,310
Ensembl chrNW_004955486:9,270,484...9,272,420 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:8,802,800...8,850,635
Ensembl chrNW_004955486:8,802,975...8,850,445 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,417,925...9,420,789 JBrowse link
G Mrto4 MRT4 homolog, ribosome maturation factor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:12,547...18,906
Ensembl chrNW_004955527:12,547...18,906 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694 		JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,452,707...9,456,640 JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,191,923...9,217,547
Ensembl chrNW_004955486:9,191,923...9,217,538 		JBrowse link
G Nbl1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955452:316,867...319,883
Ensembl chrNW_004955452:308,573...319,989 		JBrowse link
G Necap2 NECAP endocytosis associated 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:1,885,708...1,900,424
Ensembl chrNW_004955527:1,885,708...1,900,877 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:3,637,794...3,655,744
Ensembl chrNW_004955486:3,637,794...3,655,598 		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_004955486:9,750,969...9,763,622
Ensembl chrNW_004955486:9,751,053...9,767,104 		JBrowse link
G Nol9 nucleolar protein 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:6,066,093...6,079,756
Ensembl chrNW_004955486:6,066,136...6,079,117 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:6,442,058...6,547,451
Ensembl chrNW_004955486:6,448,442...6,547,488 		JBrowse link
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,061,196...2,062,805
Ensembl chrNW_004955486:2,060,735...2,063,003 		JBrowse link
G Nppb natriuretic peptide B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,054,775...2,056,130 JBrowse link
G Otud3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955452:488,295...516,162
Ensembl chrNW_004955452:487,994...516,217 		JBrowse link
G Padi1 peptidyl arginine deiminase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:1,610,643...1,641,953
Ensembl chrNW_004955527:1,610,064...1,642,379 		JBrowse link
G Padi2 peptidyl arginine deiminase 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:1,709,307...1,751,332
Ensembl chrNW_004955527:1,709,444...1,752,783 		JBrowse link
G Padi3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:1,582,065...1,608,455
Ensembl chrNW_004955527:1,582,025...1,608,465 		JBrowse link
G Padi4 peptidyl arginine deiminase 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:1,536,917...1,560,508
Ensembl chrNW_004955527:1,536,423...1,561,130 		JBrowse link
G Padi6 peptidyl arginine deiminase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:1,515,796...1,531,420
Ensembl chrNW_004955527:1,516,019...1,531,420 		JBrowse link
G Pank4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:8,703,236...8,716,017
Ensembl chrNW_004955486:8,702,909...8,716,377 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:4,974,130...4,985,927
Ensembl chrNW_004955486:4,969,497...4,985,885 		JBrowse link
G Pax7 paired box 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:474,450...573,869
Ensembl chrNW_004955527:474,403...574,689 		JBrowse link
G Pdpn podoplanin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:4,183,639...4,215,200 JBrowse link
G Per3 period circadian regulator 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:5,058,602...5,101,480
Ensembl chrNW_004955486:5,059,773...5,101,637 		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_004955486:9,731,317...9,736,821
Ensembl chrNW_004955486:9,732,734...9,735,881 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:8,785,199...8,801,914
Ensembl chrNW_004955486:8,785,174...8,791,247 		JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,981,026...3,129,721
Ensembl chrNW_004955486:2,980,700...3,129,721 		JBrowse link
G Pgd phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:3,344,705...3,356,906
Ensembl chrNW_004955486:3,343,863...3,357,066 		JBrowse link
G Phf13 PHD finger protein 13 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:6,018,614...6,025,473
Ensembl chrNW_004955486:6,017,748...6,025,614 		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_004955486:3,813,923...3,837,563
Ensembl chrNW_004955486:3,813,923...3,838,119 		JBrowse link
G Pla2g2c phospholipase A2 group IIC ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955452:771,031...783,323
Ensembl chrNW_004955452:770,952...783,375 		JBrowse link
G Pla2g2d phospholipase A2 group IID ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955452:738,133...743,718
Ensembl chrNW_004955452:736,600...743,806 		JBrowse link
G Pla2g2e phospholipase A2 group IIE ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955452:522,314...526,095
Ensembl chrNW_004955452:520,361...525,846 		JBrowse link
G Pla2g2f phospholipase A2 group IIF ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955452:755,738...765,304
Ensembl chrNW_004955452:755,478...763,571 		JBrowse link
G Pla2g5 phospholipase A2 group V ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955452:662,281...721,507
Ensembl chrNW_004955452:710,271...723,142 		JBrowse link
G Plch2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:8,717,799...8,785,144
Ensembl chrNW_004955486:8,718,155...8,775,228 		JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:6,099,654...6,121,805
Ensembl chrNW_004955486:6,107,024...6,121,356 		JBrowse link
G Plekhm2 pleckstrin homology and RUN domain containing M2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,438,595...2,453,120
Ensembl chrNW_004955527:2,438,595...2,463,842 		JBrowse link
G Plekhn1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,736,801...9,744,659
Ensembl chrNW_004955486:9,737,365...9,744,111 		JBrowse link
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:1,967,771...1,990,561
Ensembl chrNW_004955486:1,967,167...1,990,561 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:8,139,848...8,327,788
Ensembl chrNW_004955486:8,137,531...8,327,977 		JBrowse link
G Prdm2 PR/SET domain 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:4,005,410...4,105,376
Ensembl chrNW_004955527:4,012,332...4,105,311 		JBrowse link
G Prkcz protein kinase C zeta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:8,947,579...9,021,702
Ensembl chrNW_004955486:8,947,579...9,021,702 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:8,663,708...8,666,369
Ensembl chrNW_004955486:8,663,595...8,666,469 		JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,491,613...9,494,746
Ensembl chrNW_004955486:9,491,506...9,494,520 		JBrowse link
G Rcc2 regulator of chromosome condensation 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:1,490,179...1,512,111
Ensembl chrNW_004955527:1,490,179...1,509,926 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:8,791,457...8,802,691
Ensembl chrNW_004955486:8,791,457...8,802,691 		JBrowse link
G Rere arginine-glutamic acid dipeptide repeats ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:4,303,573...4,695,800
Ensembl chrNW_004955486:4,443,723...4,695,800 		JBrowse link
G Rnf186 ring finger protein 186 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955452:433,413...450,261 JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,658,706...9,665,467
Ensembl chrNW_004955486:9,662,186...9,665,467 		JBrowse link
G Rpl22 ribosomal protein L22 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:6,302,092...6,310,789
Ensembl chrNW_004955486:6,302,092...6,310,789 		JBrowse link
G Rsc1a1 regulator of solute carriers 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,492,904...2,495,318 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_004955486:9,763,704...9,781,132
Ensembl chrNW_004955486:9,763,725...9,779,197 		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_004955486:9,508,435...9,514,107 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,555,773...9,565,310
Ensembl chrNW_004955486:9,555,364...9,567,340 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:1,769,280...1,792,496
Ensembl chrNW_004955527:1,768,940...1,792,361 		JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:8,857,693...8,921,821
Ensembl chrNW_004955486:8,857,693...8,921,821 		JBrowse link
G Slc25a33 solute carrier family 25 member 33 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:3,905,001...3,921,501
Ensembl chrNW_004955486:3,905,001...3,921,505 		JBrowse link
G Slc25a34 solute carrier family 25 member 34 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,433,577...2,437,348
Ensembl chrNW_004955527:2,433,577...2,437,343 		JBrowse link
G Slc2a5 solute carrier family 2 member 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:4,194,568...4,208,568
Ensembl chrNW_004955486:4,194,833...4,211,377 		JBrowse link
G Slc45a1 solute carrier family 45 member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:4,701,889...4,732,008
Ensembl chrNW_004955486:4,701,991...4,716,939 		JBrowse link
G Slc66a1 solute carrier family 66 member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955452:17,459...22,259
Ensembl chrNW_004955452:16,770...26,189 		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_004955486:7,889,510...7,895,281
Ensembl chrNW_004955486:7,889,510...7,894,567 		JBrowse link
G Spata21 spermatogenesis associated 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:1,903,607...1,939,020 JBrowse link
G Spen spen family transcriptional repressor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,279,438...2,343,263
Ensembl chrNW_004955527:2,280,459...2,343,262 		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_004955486:4,022,307...4,061,111
Ensembl chrNW_004955486:4,022,306...4,115,077 		JBrowse link
G Srarp steroid receptor associated and regulated protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,229,664...2,232,201 JBrowse link
G Srm spermidine synthase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,631,579...2,634,779
Ensembl chrNW_004955486:2,631,586...2,634,527 		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_004955486:9,317,078...9,338,414
Ensembl chrNW_004955486:9,317,078...9,338,414 		JBrowse link
G Szrd1 SUZ RNA binding domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:1,938,477...1,961,524
Ensembl chrNW_004955527:1,938,477...1,961,521 		JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,656,121...2,674,808
Ensembl chrNW_004955486:2,656,121...2,674,807 		JBrowse link
G Tas1r1 taste 1 receptor member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:6,056,501...6,065,038
Ensembl chrNW_004955486:6,056,676...6,066,272 		JBrowse link
G Tas1r2 taste 1 receptor member 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:377,269...392,833
Ensembl chrNW_004955527:376,083...392,282 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,469,954...9,475,421
Ensembl chrNW_004955486:9,470,626...9,473,780 		JBrowse link
G Thap3 THAP domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:6,012,557...6,018,101 JBrowse link
G Tmco4 transmembrane and coiled-coil domains 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955452:338,779...425,901
Ensembl chrNW_004955452:338,779...414,201 		JBrowse link
G Tmem201 transmembrane protein 201 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:3,881,571...3,900,879
Ensembl chrNW_004955486:3,882,813...3,900,780 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,339,489...9,344,025
Ensembl chrNW_004955486:9,339,479...9,344,025 		JBrowse link
G Tmem278 transmembrane protein 278 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,376,707...9,379,315
Ensembl chrNW_004955486:9,376,707...9,379,315 		JBrowse link
G Tmem51 transmembrane protein 51 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,893,040...2,944,542
Ensembl chrNW_004955527:2,893,040...2,944,542 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:9,107,254...9,111,006
Ensembl chrNW_004955486:9,109,431...9,110,668 		JBrowse link
G Tmem82 transmembrane protein 82 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,428,818...2,432,843
Ensembl chrNW_004955527:2,428,541...2,432,242 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:8,670,182...8,684,677 JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,571,527...9,573,733
Ensembl chrNW_004955486:9,571,530...9,573,733 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362 		JBrowse link
G Tnfrsf25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:6,121,906...6,127,060
Ensembl chrNW_004955486:6,122,454...6,126,782 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,565,424...9,569,836
Ensembl chrNW_004955486:9,567,220...9,569,676 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:1,839,642...1,910,080 JBrowse link
G Tnfrsf9 TNF receptor superfamily member 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:4,986,245...5,009,437
Ensembl chrNW_004955486:4,989,582...5,010,213 		JBrowse link
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:7,914,608...7,961,992
Ensembl chrNW_004955486:7,914,440...7,952,982 		JBrowse link
G Tprg1l tumor protein p63 regulated 1 like ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:8,007,678...8,013,996
Ensembl chrNW_004955486:8,007,842...8,013,910 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:8,620,609...8,633,069
Ensembl chrNW_004955486:8,620,516...8,631,399 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,576,174...9,589,297 JBrowse link
G Ube2j2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:9,519,467...9,539,666
Ensembl chrNW_004955486:9,524,459...9,540,562 		JBrowse link
G Ube4b ubiquitination factor E4B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:3,518,873...3,626,036
Ensembl chrNW_004955486:3,518,740...3,626,121 		JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:2,472,035...2,481,975
Ensembl chrNW_004955486:2,472,035...2,481,975 		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_004955527:57,335...185,727
Ensembl chrNW_004955527:57,335...185,727 		JBrowse link
G Ubxn10 UBX domain protein 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955452:790,950...799,378
Ensembl chrNW_004955452:790,950...799,378 		JBrowse link
G Uts2 urotensin 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:5,052,045...5,056,610
Ensembl chrNW_004955486:5,052,045...5,056,610 		JBrowse link
G Vamp3 vesicle associated membrane protein 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:5,103,228...5,112,157
Ensembl chrNW_004955486:5,103,106...5,112,176 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:1,515,630...1,772,107
Ensembl chrNW_004955486:1,513,712...1,767,956 		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_004955486:9,365,920...9,369,117
Ensembl chrNW_004955486:9,366,796...9,369,115 		JBrowse link
G Wrap73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:7,992,684...8,006,121
Ensembl chrNW_004955486:7,992,015...8,006,115 		JBrowse link
G Zbtb17 zinc finger and BTB domain containing 17 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955527:2,252,118...2,278,127
Ensembl chrNW_004955527:2,252,074...2,282,787 		JBrowse link
G Zbtb48 zinc finger and BTB domain containing 48 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004955486:6,049,242...6,056,253
Ensembl chrNW_004955486:6,048,234...6,055,690 		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_004955568:744,453...764,402
Ensembl chrNW_004955568:744,836...764,331 		JBrowse link
G Bcl9 BCL9 transcription coactivator ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chrNW_004955568:785,361...866,986
Ensembl chrNW_004955568:783,692...811,600 		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_004955568:1,132,594...1,189,176
Ensembl chrNW_004955568:1,132,857...1,189,024 		JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chrNW_004955568:1,225,136...1,247,352
Ensembl chrNW_004955568:1,224,843...1,250,729 		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_004955568:635,319...652,692
Ensembl chrNW_004955568:635,042...653,349 		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_004955568:514,905...516,551
Ensembl chrNW_004955568:515,113...516,435 		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_004955568:1,253,331...1,279,761
Ensembl chrNW_004955568:1,252,736...1,279,761 		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_004955520:1,254,853...1,285,118
Ensembl chrNW_004955520:1,257,216...1,285,322 		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_004955442:14,933,550...14,989,492
Ensembl chrNW_004955442:14,933,550...14,989,492 		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_004955442:19,334,217...19,346,438
Ensembl chrNW_004955442:19,333,591...19,346,438 		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_004955442:18,109,421...18,149,969
Ensembl chrNW_004955442:18,109,439...18,127,971 		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_004955455:7,598,794...7,727,386
Ensembl chrNW_004955455:7,598,794...7,727,386 		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_004955442:17,474,743...17,482,389 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_004955442:17,962,249...17,965,261 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_004955442:18,513,398...18,548,317
Ensembl chrNW_004955442:18,514,731...18,547,805 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004955442:18,509,501...18,511,267
Ensembl chrNW_004955442:18,509,676...18,510,332 		JBrowse link
G Cltcl1 clathrin heavy chain like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004955442:18,688,019...18,803,458
Ensembl chrNW_004955442:18,687,746...18,804,104 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412 		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_004955442:19,358,202...19,388,552
Ensembl chrNW_004955442:19,358,081...19,388,815 		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_004955442:18,570,867...18,575,809
Ensembl chrNW_004955442:18,570,867...18,576,076 		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_004955442:18,857,222...18,938,552
Ensembl chrNW_004955442:18,857,222...18,938,680 		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_004955442:17,810,570...17,815,905 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_004955442:17,998,565...18,034,247
Ensembl chrNW_004955442:17,998,565...18,030,831 		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_004955442:18,829,037...18,840,542
Ensembl chrNW_004955442:18,828,976...18,840,542 		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_004955455:7,501,153...7,554,235
Ensembl chrNW_004955455:7,501,153...7,554,235 		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_004955442:18,224,081...18,281,558 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_004955442:18,359,664...18,360,979
Ensembl chrNW_004955442:18,359,664...18,360,979 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004955442:18,824,187...18,825,760
Ensembl chrNW_004955442:18,823,495...18,825,760 		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_004955442:17,610,042...17,643,381
Ensembl chrNW_004955442:17,626,190...17,643,455 		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_004955442:19,010,971...19,051,300
Ensembl chrNW_004955442:19,009,155...19,051,393 		JBrowse link
G LOC102009660 protein HIRA ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004955442:18,581,370...18,673,590
Ensembl chrNW_004955442:18,581,370...18,673,761 		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_004955442:19,272,350...19,296,090
Ensembl chrNW_004955442:19,272,433...19,287,527 		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_004955442:19,315,427...19,333,361
Ensembl chrNW_004955442:19,315,427...19,333,522 		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_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020 		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_004955442:19,112,269...19,179,742
Ensembl chrNW_004955442:19,112,270...19,179,742 		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_004955442:18,578,107...18,580,517
Ensembl chrNW_004955442:18,577,952...18,580,517 		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_004955442:19,263,544...19,272,231
Ensembl chrNW_004955442:19,264,790...19,271,537 		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_004955442:19,446,955...19,594,790
Ensembl chrNW_004955442:19,446,955...19,598,725 		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_004955442:17,426,154...17,449,079
Ensembl chrNW_004955442:17,425,231...17,449,832 		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_004955442:17,233,258...17,256,009
Ensembl chrNW_004955442:17,227,723...17,252,383 		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_004955455:6,921,420...6,930,453
Ensembl chrNW_004955455:6,921,052...6,930,537 		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_004955455:7,574,376...7,590,024
Ensembl chrNW_004955455:7,575,875...7,587,972 		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_004955442:17,985,456...17,992,945
Ensembl chrNW_004955442:17,985,544...17,992,759 		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_004955455:7,491,693...7,574,257
Ensembl chrNW_004955455:7,488,504...7,572,047 		JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004955442:17,866,508...17,891,803
Ensembl chrNW_004955442:17,866,398...17,891,820 		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_004955442:18,995,253...19,006,499
Ensembl chrNW_004955442:18,996,070...19,001,624 		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_004955442:17,468,302...17,470,296
Ensembl chrNW_004955442:17,468,302...17,470,296 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004955442:18,361,072...18,369,648
Ensembl chrNW_004955442:18,359,609...18,369,648 		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_004955442:19,525,411...19,537,986
Ensembl chrNW_004955442:19,525,411...19,538,384 		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_004955442:18,804,319...18,807,353
Ensembl chrNW_004955442:18,804,319...18,808,900 		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_004955442:19,258,901...19,263,317
Ensembl chrNW_004955442:19,258,796...19,263,317 		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_004955442:19,419,381...19,446,782
Ensembl chrNW_004955442:19,419,821...19,446,665 		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_004955442:18,036,477...18,074,036
Ensembl chrNW_004955442:18,036,477...18,074,213 		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_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337 		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_004955442:19,311,307...19,313,779
Ensembl chrNW_004955442:19,311,574...19,313,779 		JBrowse link
G Tmem191c transmembrane protein 191C ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chrNW_004955442:17,145,361...17,149,050 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_004955442:17,201,079...17,223,824
Ensembl chrNW_004955442:17,200,453...17,225,335 		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_004955442:17,993,130...17,997,944
Ensembl chrNW_004955442:17,993,434...17,997,850 		JBrowse link
G Tssk2 testis specific serine kinase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004955442:18,846,491...18,847,485 JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004955442:18,150,060...18,205,775
Ensembl chrNW_004955442:18,152,152...18,204,327 		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_004955442:17,487,815...17,581,675
Ensembl chrNW_004955442:17,487,815...17,581,675 		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_004955442:18,548,545...18,568,989
Ensembl chrNW_004955442:18,548,545...18,569,366 		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_004955442:17,481,581...17,483,858
Ensembl chrNW_004955442:17,482,020...17,484,853 		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_004955442:17,400,655...17,423,896 JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chrNW_004955442:17,965,186...17,980,854
Ensembl chrNW_004955442:17,965,963...17,980,854 		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_004955455:6,893,363...6,899,637 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_004955455:6,866,576...6,888,907
Ensembl chrNW_004955455:6,866,762...6,868,411 		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_004955442:18,969,061...18,982,193 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_004955442:19,334,217...19,346,438
Ensembl chrNW_004955442:19,333,591...19,346,438 		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_004955442:18,109,421...18,149,969
Ensembl chrNW_004955442:18,109,439...18,127,971 		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_004955442:17,962,249...17,965,261 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_004955442:18,513,398...18,548,317
Ensembl chrNW_004955442:18,514,731...18,547,805 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955442:18,509,501...18,511,267
Ensembl chrNW_004955442:18,509,676...18,510,332 		JBrowse link
G Cltcl1 clathrin heavy chain like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955442:18,688,019...18,803,458
Ensembl chrNW_004955442:18,687,746...18,804,104 		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_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412 		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_004955442:19,358,202...19,388,552
Ensembl chrNW_004955442:19,358,081...19,388,815 		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_004955442:18,570,867...18,575,809
Ensembl chrNW_004955442:18,570,867...18,576,076 		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_004955442:18,857,222...18,938,552
Ensembl chrNW_004955442:18,857,222...18,938,680 		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_004955442:17,810,570...17,815,905 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_004955442:17,998,565...18,034,247
Ensembl chrNW_004955442:17,998,565...18,030,831 		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_004955442:18,829,037...18,840,542
Ensembl chrNW_004955442:18,828,976...18,840,542 		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_004955442:18,224,081...18,281,558 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_004955442:18,359,664...18,360,979
Ensembl chrNW_004955442:18,359,664...18,360,979 		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_004955442:18,824,187...18,825,760
Ensembl chrNW_004955442:18,823,495...18,825,760 		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_004955442:19,010,971...19,051,300
Ensembl chrNW_004955442:19,009,155...19,051,393 		JBrowse link
G LOC102009660 protein HIRA ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955442:18,581,370...18,673,590
Ensembl chrNW_004955442:18,581,370...18,673,761 		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_004955442:19,272,350...19,296,090
Ensembl chrNW_004955442:19,272,433...19,287,527 		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_004955442:19,315,427...19,333,361
Ensembl chrNW_004955442:19,315,427...19,333,522 		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_004955442:19,112,269...19,179,742
Ensembl chrNW_004955442:19,112,270...19,179,742 		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_004955442:18,578,107...18,580,517
Ensembl chrNW_004955442:18,577,952...18,580,517 		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_004955442:19,263,544...19,272,231
Ensembl chrNW_004955442:19,264,790...19,271,537 		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_004955442:19,446,955...19,594,790
Ensembl chrNW_004955442:19,446,955...19,598,725 		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_004955442:17,985,456...17,992,945
Ensembl chrNW_004955442:17,985,544...17,992,759 		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_004955442:17,866,508...17,891,803
Ensembl chrNW_004955442:17,866,398...17,891,820 		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_004955442:18,995,253...19,006,499
Ensembl chrNW_004955442:18,996,070...19,001,624 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955442:18,361,072...18,369,648
Ensembl chrNW_004955442:18,359,609...18,369,648 		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_004955442:19,525,411...19,537,986
Ensembl chrNW_004955442:19,525,411...19,538,384 		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_004955442:18,804,319...18,807,353
Ensembl chrNW_004955442:18,804,319...18,808,900 		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_004955442:19,258,901...19,263,317
Ensembl chrNW_004955442:19,258,796...19,263,317 		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_004955442:19,419,381...19,446,782
Ensembl chrNW_004955442:19,419,821...19,446,665 		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_004955442:18,036,477...18,074,036
Ensembl chrNW_004955442:18,036,477...18,074,213 		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_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337 		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_004955442:19,311,307...19,313,779
Ensembl chrNW_004955442:19,311,574...19,313,779 		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_004955442:17,993,130...17,997,944
Ensembl chrNW_004955442:17,993,434...17,997,850 		JBrowse link
G Tssk2 testis specific serine kinase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955442:18,846,491...18,847,485 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_004955442:18,150,060...18,205,775
Ensembl chrNW_004955442:18,152,152...18,204,327 		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_004955442:18,548,545...18,568,989
Ensembl chrNW_004955442:18,548,545...18,569,366 		JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004955442:17,965,186...17,980,854
Ensembl chrNW_004955442:17,965,963...17,980,854 		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_004955442:18,969,061...18,982,193 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_004955424:22,434,292...22,689,944
Ensembl chrNW_004955424:22,474,098...22,689,322 		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_004955441:16,230,977...17,178,003
Ensembl chrNW_004955441:16,234,070...17,178,005 		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_004955542:710,506...720,564
Ensembl chrNW_004955542:710,005...717,741 		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_004955542:910,258...943,546
Ensembl chrNW_004955542:910,251...943,389 		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_004955542:2,243,381...2,255,747
Ensembl chrNW_004955542:2,243,381...2,255,747 		JBrowse link
G Atg4b autophagy related 4B cysteine peptidase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:164,969...192,498
Ensembl chrNW_004955542:166,365...193,006 		JBrowse link
G Bok BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:224,471...232,401
Ensembl chrNW_004955542:224,471...232,428 		JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:874,083...885,085
Ensembl chrNW_004955542:874,083...885,084 		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_004955542:2,869,183...2,950,569
Ensembl chrNW_004955542:2,887,723...2,949,062 		JBrowse link
G Cops8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:3,129,184...3,140,232
Ensembl chrNW_004955542:3,128,194...3,140,232 		JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:1,131,110...1,135,871
Ensembl chrNW_004955542:1,131,110...1,135,871 		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_004955542:647,145...694,523
Ensembl chrNW_004955542:646,143...694,682 		JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:99,379...130,447
Ensembl chrNW_004955542:93,226...130,444 		JBrowse link
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:155,741...163,759
Ensembl chrNW_004955542:155,742...163,759 		JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:909,239...911,139
Ensembl chrNW_004955542:909,917...910,646 		JBrowse link
G Erfe erythroferrone ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:2,408,504...2,415,522
Ensembl chrNW_004955542:2,409,988...2,415,522 		JBrowse link
G Espnl espin like ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:2,430,610...2,453,738
Ensembl chrNW_004955542:2,430,712...2,453,361 		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_004955542:279,489...395,524
Ensembl chrNW_004955542:280,008...379,166 		JBrowse link
G Gal3st2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:82,972...94,041
Ensembl chrNW_004955542:84,629...87,356 		JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:947,556...968,295
Ensembl chrNW_004955542:947,556...968,295 		JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:851,895...856,688
Ensembl chrNW_004955542:851,895...856,688 		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_004955542:1,629,691...1,886,160
Ensembl chrNW_004955542:1,629,691...1,886,210 		JBrowse link
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:444,221...505,512
Ensembl chrNW_004955542:444,258...510,065 		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_004955542:2,373,241...2,374,827
Ensembl chrNW_004955542:2,373,370...2,374,272 		JBrowse link
G Ilkap ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:2,391,432...2,407,559
Ensembl chrNW_004955542:2,391,431...2,408,732 		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_004955542:135,634...160,991
Ensembl chrNW_004955542:132,560...148,138 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:756,834...832,805
Ensembl chrNW_004955542:756,835...832,889 		JBrowse link
G Klhl30 kelch like family member 30 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:2,418,399...2,427,571
Ensembl chrNW_004955542:2,418,324...2,428,062 		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_004955542:2,632,933...2,737,922
Ensembl chrNW_004955542:2,632,933...2,686,865 		JBrowse link
G Mab21l4 mab-21 like 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:699,717...708,760
Ensembl chrNW_004955542:701,633...709,315 		JBrowse link
G Mlph melanophilin ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:2,769,709...2,807,768
Ensembl chrNW_004955542:2,769,649...2,802,672 		JBrowse link
G Mterf4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:579,183...584,617
Ensembl chrNW_004955542:579,356...584,508 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:1,329,802...1,370,109
Ensembl chrNW_004955542:1,329,212...1,370,695 		JBrowse link
G Neu4 neuraminidase 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:66,214...70,456
Ensembl chrNW_004955542:66,174...71,058 		JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:1,128,036...1,129,445
Ensembl chrNW_004955542:1,128,036...1,129,445 		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_004955542:539,806...578,496
Ensembl chrNW_004955542:555,030...578,227 		JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823 		JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:2,331,547...2,369,011
Ensembl chrNW_004955542:2,338,099...2,371,274 		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_004955542:520,605...539,699 JBrowse link
G Prlh prolactin releasing hormone ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:2,765,578...2,768,057
Ensembl chrNW_004955542:2,765,566...2,766,371 		JBrowse link
G Rab17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:2,751,953...2,759,661 JBrowse link
G Ramp1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:2,530,349...2,564,072 JBrowse link
G Rbm44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:2,573,648...2,620,240
Ensembl chrNW_004955542:2,571,203...2,620,313 		JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:897,708...906,011
Ensembl chrNW_004955542:898,462...906,703 		JBrowse link
G Rtp5 receptor transporter protein 5 (putative) ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:40,344...43,885 JBrowse link
G Scly selenocysteine lyase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:2,453,826...2,472,951
Ensembl chrNW_004955542:2,454,708...2,472,851 		JBrowse link
G Septin2 septin 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:401,081...444,304
Ensembl chrNW_004955542:401,081...443,962 		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_004955542:587,159...628,159
Ensembl chrNW_004955542:589,746...627,519 		JBrowse link
G Stk25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:268,406...279,323
Ensembl chrNW_004955542:272,715...280,110 		JBrowse link
G Thap4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:192,888...217,985
Ensembl chrNW_004955542:195,088...217,831 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:2,264,472...2,301,083
Ensembl chrNW_004955542:2,265,901...2,301,215 		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_004955542:1,959,765...2,000,665
Ensembl chrNW_004955542:1,959,765...2,000,665 		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_004955542:2,480,455...2,515,982
Ensembl chrNW_004955542:2,480,455...2,515,986 		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_004955561:326,008...335,911
Ensembl chrNW_004955561:325,944...335,914 		JBrowse link
G Oxtr oxytocin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chrNW_004955561:340,387...354,499
Ensembl chrNW_004955561:337,902...354,336 		JBrowse link
G Srgap3 SLIT-ROBO Rho GTPase activating protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chrNW_004955561:612,152...835,209
Ensembl chrNW_004955561:617,001...835,221 		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_004955420:12,823,663...12,829,598
Ensembl chrNW_004955420:12,823,889...12,825,337 		JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:13,068,289...13,273,805
Ensembl chrNW_004955420:13,068,289...13,273,805 		JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:12,515,195...12,528,863
Ensembl chrNW_004955420:12,515,195...12,528,861 		JBrowse link
G Fbxo45 F-box protein 45 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:12,714,749...12,727,600
Ensembl chrNW_004955420:12,714,608...12,726,113 		JBrowse link
G Meltf melanotransferrin ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:13,036,767...13,055,477
Ensembl chrNW_004955420:13,035,309...13,055,548 		JBrowse link
G Ncbp2 nuclear cap binding protein subunit 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:12,979,368...12,992,500
Ensembl chrNW_004955420:12,979,368...12,992,500 		JBrowse link
G Nrros negative regulator of reactive oxygen species ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:12,792,173...12,798,645
Ensembl chrNW_004955420:12,792,111...12,801,963 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:12,893,760...12,930,955
Ensembl chrNW_004955420:12,892,845...12,930,955 		JBrowse link
G Pcyt1a phosphate cytidylyltransferase 1A, choline ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:12,464,857...12,513,017
Ensembl chrNW_004955420:12,464,857...12,500,574 		JBrowse link
G Pigx phosphatidylinositol glycan anchor biosynthesis class X ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:12,825,438...12,853,658 JBrowse link
G Pigz phosphatidylinositol glycan anchor biosynthesis class Z ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:12,994,892...13,003,170 JBrowse link
G Rnf168 ring finger protein 168 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:12,656,815...12,676,836
Ensembl chrNW_004955420:12,657,272...12,676,426 		JBrowse link
G Senp5 SUMO specific peptidase 5 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:12,943,783...12,975,239
Ensembl chrNW_004955420:12,943,447...12,975,085 		JBrowse link
G Slc51a solute carrier family 51 member A ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:12,452,562...12,463,369
Ensembl chrNW_004955420:12,453,554...12,463,150 		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_004955420:12,680,494...12,685,018
Ensembl chrNW_004955420:12,678,932...12,685,025 		JBrowse link
G Tfrc transferrin receptor ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:12,348,392...12,372,714
Ensembl chrNW_004955420:12,348,821...12,372,691 		JBrowse link
G Tm4sf19 transmembrane 4 L six family member 19 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:12,532,435...12,558,861
Ensembl chrNW_004955420:12,531,012...12,537,156 		JBrowse link
G Tnk2 tyrosine kinase non receptor 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:12,302,463...12,337,976
Ensembl chrNW_004955420:12,300,572...12,338,058 		JBrowse link
G Ubxn7 UBX domain protein 7 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:12,555,144...12,594,452
Ensembl chrNW_004955420:12,555,144...12,595,155 		JBrowse link
G Wdr53 WD repeat domain 53 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:12,694,208...12,714,613
Ensembl chrNW_004955420:12,694,237...12,714,613 		JBrowse link
G Zdhhc19 zinc finger DHHC-type palmitoyltransferase 19 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004955420:12,432,342...12,442,411
Ensembl chrNW_004955420:12,432,279...12,442,249 		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_004955474:6,252,321...6,265,518
Ensembl chrNW_004955474:6,252,321...6,265,286 		JBrowse link
G Cds1 CDP-diacylglycerol synthase 1 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004955474:5,057,833...5,104,235
Ensembl chrNW_004955474:5,057,833...5,104,235 		JBrowse link
G Cops4 COP9 signalosome subunit 4 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004955474:6,540,022...6,581,881
Ensembl chrNW_004955474:6,539,313...6,582,551 		JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004955474:6,403,409...6,422,135 JBrowse link
G Enoph1 enolase-phosphatase 1 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004955433:6,522,663...6,549,352
Ensembl chrNW_004955433:6,522,663...6,549,352 		JBrowse link
G Gpat3 glycerol-3-phosphate acyltransferase 3 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004955474:6,119,516...6,192,784
Ensembl chrNW_004955474:6,118,437...6,193,847 		JBrowse link
G Helq helicase, POLQ like ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004955474:6,280,955...6,322,702
Ensembl chrNW_004955474:6,281,231...6,322,615 		JBrowse link
G Hnrnpd heterogeneous nuclear ribonucleoprotein D ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004955433:6,452,931...6,470,209
Ensembl chrNW_004955433:6,454,454...6,469,904 		JBrowse link
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D like ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004955433:6,515,509...6,522,081
Ensembl chrNW_004955433:6,512,399...6,522,377 		JBrowse link
G Hpse heparanase ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004955474:6,367,467...6,394,395
Ensembl chrNW_004955474:6,367,467...6,394,395 		JBrowse link
G Lin54 lin-54 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004955474:6,600,766...6,660,904
Ensembl chrNW_004955474:6,613,661...6,660,899 		JBrowse link
G Mrps18c mitochondrial ribosomal protein S18C ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004955474:6,274,545...6,280,871 JBrowse link
G Nkx6-1 NK6 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004955474:5,211,281...5,214,785 JBrowse link
G Plac8 placenta associated 8 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004955474:6,518,459...6,533,251
Ensembl chrNW_004955474:6,522,204...6,534,312 		JBrowse link
G Scd5 stearoyl-CoA desaturase 5 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004955433:6,700,616...6,819,782
Ensembl chrNW_004955433:6,700,555...6,818,147 		JBrowse link
G Sec31a SEC31 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004955433:6,830,732...6,891,259
Ensembl chrNW_004955433:6,830,540...6,891,258 		JBrowse link
G Thap9 THAP domain containing 9 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004955433:6,906,034...6,922,832 JBrowse link
G Tmem150c transmembrane protein 150C ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chrNW_004955433:6,560,628...6,628,525
Ensembl chrNW_004955433:6,560,628...6,628,525 		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_004955408:28,832,362...28,871,345
Ensembl chrNW_004955408:28,832,325...28,875,534 		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_004955408:28,910,141...28,913,692
Ensembl chrNW_004955408:28,910,141...28,913,692 		JBrowse link
G Faf2 Fas associated factor family member 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:28,737,597...28,797,143
Ensembl chrNW_004955408:28,737,279...28,797,564 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,370,480...29,383,531
Ensembl chrNW_004955408:29,370,468...29,383,971 		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_004955408:28,871,379...28,884,961
Ensembl chrNW_004955408:28,872,414...28,875,416 		JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,132,717...29,149,030
Ensembl chrNW_004955408:29,132,717...29,146,280 		JBrowse link
G Lman2 lectin, mannose binding 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,581,737...29,597,240
Ensembl chrNW_004955408:29,581,737...29,597,240 		JBrowse link
G Mxd3 MAX dimerization protein 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,555,028...29,560,589
Ensembl chrNW_004955408:29,555,406...29,559,451 		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_004955408:29,416,393...29,547,444
Ensembl chrNW_004955408:29,413,595...29,542,768 		JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,551,253...29,554,778
Ensembl chrNW_004955408:29,551,424...29,554,436 		JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,548,839...29,551,184
Ensembl chrNW_004955408:29,548,839...29,551,184 		JBrowse link
G Rgs14 regulator of G protein signaling 14 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,602,654...29,616,793
Ensembl chrNW_004955408:29,602,820...29,616,210 		JBrowse link
G Rnf44 ring finger protein 44 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:28,809,383...28,826,587
Ensembl chrNW_004955408:28,809,383...28,825,865 		JBrowse link
G Sncb synuclein beta ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:28,894,204...28,903,095
Ensembl chrNW_004955408:28,894,204...28,903,095 		JBrowse link
G Tspan17 tetraspanin 17 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:28,914,392...28,924,352
Ensembl chrNW_004955408:28,913,871...28,922,489 		JBrowse link
G Uimc1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,154,373...29,274,817
Ensembl chrNW_004955408:29,154,629...29,274,856 		JBrowse link
G Unc5a unc-5 netrin receptor A ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,071,812...29,132,744
Ensembl chrNW_004955408:29,071,792...29,132,037 		JBrowse link
G Znf346 zinc finger protein 346 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,312,273...29,346,983
Ensembl chrNW_004955408:29,312,274...29,349,316 		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_004955454:2,284,892...2,299,169 JBrowse link
G Klf1 KLF transcription factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chrNW_004955415:31,939,994...31,943,539
Ensembl chrNW_004955415:31,939,873...31,943,545 		JBrowse link
G Rps14 ribosomal protein S14 ISO OMIM NCBI chrNW_004955415:4,103,223...4,108,633
Ensembl chrNW_004955415:4,102,511...4,108,633 		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_004955439:10,241,298...10,262,416
Ensembl chrNW_004955439:10,238,664...10,263,081 		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_004955439:5,041,111...5,454,692
Ensembl chrNW_004955439:5,043,967...5,412,741 		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_004955439:10,136,393...10,151,178
Ensembl chrNW_004955439:10,138,804...10,151,086 		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_004955439:10,010,421...10,114,323
Ensembl chrNW_004955439:10,008,654...10,079,069 		JBrowse link
G Cldn20 claudin 20 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004955439:6,923,157...6,924,098 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_004955439:7,524,401...7,616,447
Ensembl chrNW_004955439:7,524,333...7,616,447 		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_004955439:3,833,525...3,842,393
Ensembl chrNW_004955439:3,833,525...3,842,393 		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_004955439:9,588,631...9,953,606
Ensembl chrNW_004955439:9,588,201...9,963,353 		JBrowse link
G Ezr ezrin ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004955439:3,701,722...3,740,345
Ensembl chrNW_004955439:3,703,013...3,740,345 		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_004955439:8,830,658...8,843,653
Ensembl chrNW_004955439:8,830,975...8,843,828 		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_004955439:3,251,851...3,356,679
Ensembl chrNW_004955439:3,252,529...3,325,567 		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_004955439:4,226,530...4,234,390
Ensembl chrNW_004955439:4,226,530...4,234,261 		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_004955439:7,666,246...7,836,481
Ensembl chrNW_004955439:7,756,126...7,836,542 		JBrowse link
G Iyd iodotyrosine deiodinase ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004955439:10,998,797...11,060,078
Ensembl chrNW_004955439:11,033,302...11,060,150 		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_004955439:10,432,732...10,621,991
Ensembl chrNW_004955439:10,438,883...10,621,768 		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_004955439:8,809,545...8,824,442
Ensembl chrNW_004955439:8,809,617...8,823,762 		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_004955439:9,065,983...9,086,491
Ensembl chrNW_004955439:9,065,574...9,086,539 		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_004955439:6,764,693...6,820,278
Ensembl chrNW_004955439:6,764,693...6,820,278 		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_004955439:7,870,563...7,923,817
Ensembl chrNW_004955439:7,757,569...7,923,817 		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_004955439:10,636,444...10,755,814
Ensembl chrNW_004955439:10,636,381...10,746,745 		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_004955439:8,687,775...8,805,229
Ensembl chrNW_004955439:8,687,672...8,802,260 		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_004955439:10,151,357...10,193,765 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_004955439:3,510,076...3,533,924
Ensembl chrNW_004955439:3,509,395...3,534,392 		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_004955439:7,282,264...7,361,855
Ensembl chrNW_004955439:7,282,264...7,333,560 		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_004955439:4,234,440...4,291,947
Ensembl chrNW_004955439:4,234,382...4,291,941 		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_004955439:4,422,385...4,503,408
Ensembl chrNW_004955439:4,421,297...4,503,393 		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_004955439:9,131,227...9,574,112 JBrowse link
G Synj2 synaptojanin 2 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004955439:4,305,630...4,400,775
Ensembl chrNW_004955439:4,290,238...4,400,775 		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_004955439:3,740,044...3,825,954
Ensembl chrNW_004955439:3,741,185...3,813,670 		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_004955439:3,479,041...3,488,403
Ensembl chrNW_004955439:3,478,708...3,488,777 		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_004955439:6,889,432...6,943,152
Ensembl chrNW_004955439:6,883,852...6,943,152 		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_004955439:6,942,702...7,147,145
Ensembl chrNW_004955439:6,939,563...7,067,507 		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_004955439:3,843,823...3,914,702
Ensembl chrNW_004955439:3,843,823...3,900,108 		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_004955439:4,936,386...4,964,934
Ensembl chrNW_004955439:4,935,813...4,967,382 		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_004955439:3,935,422...4,121,780
Ensembl chrNW_004955439:3,940,098...4,119,874 		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_004955439:9,021,923...9,031,783
Ensembl chrNW_004955439:9,021,904...9,031,792 		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_004955439:10,220,204...10,231,065
Ensembl chrNW_004955439:10,220,204...10,233,207 		JBrowse link
G Zdhhc14 zinc finger DHHC-type palmitoyltransferase 14 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004955439:4,617,654...4,893,090
Ensembl chrNW_004955439:4,618,525...4,892,247 		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_004955410:7,810,702...7,925,844
Ensembl chrNW_004955410:7,811,034...7,961,414 		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_004955456:14,582,812...14,588,574
Ensembl chrNW_004955456:14,583,610...14,585,169 		JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004955456:14,554,583...14,558,967 JBrowse link
G Dtx2 deltex E3 ubiquitin ligase 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004955456:15,034,214...15,070,521
Ensembl chrNW_004955456:15,034,189...15,074,193 		JBrowse link
G Fgl2 fibrinogen like 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004955410:7,899,263...7,903,499
Ensembl chrNW_004955410:7,899,309...7,902,722 		JBrowse link
G Gsap gamma-secretase activating protein ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004955410:7,740,548...7,810,563 JBrowse link
G Hip1 huntingtin interacting protein 1 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004955456:14,389,282...14,529,317
Ensembl chrNW_004955456:14,392,921...14,529,213 		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_004955844:8,094...9,565
Ensembl chrNW_004955844:7,790...10,004 		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_004955410:6,739,115...7,295,027
Ensembl chrNW_004955410:6,400,242...7,294,924 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004955456:14,819,406...14,833,547
Ensembl chrNW_004955456:14,819,406...14,837,142 		JBrowse link
G Phtf2 putative homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004955410:7,344,526...7,442,802
Ensembl chrNW_004955410:7,344,526...7,423,050 		JBrowse link
G Por P450 (cytochrome) oxidoreductase ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004955456:14,698,589...14,748,520
Ensembl chrNW_004955456:14,698,589...14,748,520 		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_004955410:7,556,283...7,599,170
Ensembl chrNW_004955410:7,557,103...7,599,139 		JBrowse link
G Rcc1l RCC1 like ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004955456:13,285,753...13,300,244
Ensembl chrNW_004955456:13,286,459...13,300,182 		JBrowse link
G Rhbdd2 rhomboid domain containing 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004955456:14,652,995...14,666,155
Ensembl chrNW_004955456:14,652,816...14,668,298 		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_004955410:7,453,868...7,528,509
Ensembl chrNW_004955410:7,457,305...7,528,472 		JBrowse link
G Srrm3 serine/arginine repetitive matrix 3 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004955456:14,855,387...14,914,315
Ensembl chrNW_004955456:14,855,077...14,914,315 		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_004955456:14,993,250...15,005,664
Ensembl chrNW_004955456:14,993,250...15,005,664 		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_004955456:14,755,516...14,819,326
Ensembl chrNW_004955456:14,755,637...14,819,125 		JBrowse link
G Tmem120a transmembrane protein 120A ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004955456:14,748,666...14,754,270
Ensembl chrNW_004955456:14,747,621...14,754,270 		JBrowse link
G Tmem60 transmembrane protein 60 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004955410:7,444,553...7,447,147
Ensembl chrNW_004955410:7,444,553...7,447,147 		JBrowse link
G Upk3b uroplakin 3B ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004955456:15,073,833...15,078,635
Ensembl chrNW_004955456:15,073,841...15,078,635 		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_004955456:14,939,130...14,970,248
Ensembl chrNW_004955456:14,939,084...14,970,248 		JBrowse link
G Zp3 zona pellucida glycoprotein 3 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chrNW_004955456:15,013,472...15,020,809 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_004955434:8,998,357...9,010,468
Ensembl chrNW_004955434:9,000,158...9,011,250 		JBrowse link
G Brd10 bromodomain containing 10 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:9,904,255...9,991,651
Ensembl chrNW_004955434:9,883,015...9,992,563 		JBrowse link
G Cd274 CD274 molecule ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904 		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_004955434:8,969,289...8,996,921
Ensembl chrNW_004955434:8,969,289...8,998,742 		JBrowse link
G Dmac1 distal membrane arm assembly component 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:11,530,632...11,539,237
Ensembl chrNW_004955434:11,530,790...11,531,883 		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_004955434:5,341,519...5,448,049
Ensembl chrNW_004955434:5,341,286...5,448,235 		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_004955434:5,528,625...5,535,783 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_004955434:5,455,449...5,470,343
Ensembl chrNW_004955434:5,455,449...5,470,343 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:4,849,147...5,050,545
Ensembl chrNW_004955434:4,867,016...5,049,118 		JBrowse link
G Dock8-as1 DOCK8 antisense RNA 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:4,806,409...4,820,650 JBrowse link
G Ermp1 endoplasmic reticulum metallopeptidase 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:9,772,667...9,825,048
Ensembl chrNW_004955434:9,778,465...9,824,973 		JBrowse link
G Foxd4 forkhead box D4 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:4,723,198...4,725,013 JBrowse link
G Frem1 FRAS1 related extracellular matrix 1 ISO OMIM:158170 MouseDO NCBI chrNW_004955434:17,754,002...17,901,416
Ensembl chrNW_004955434:17,753,925...17,901,407 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:10,431,434...10,533,118
Ensembl chrNW_004955434:10,431,983...10,533,002 		JBrowse link
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:8,140,965...8,581,889
Ensembl chrNW_004955434:8,145,053...8,573,537 		JBrowse link
G Il33 interleukin 33 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948 		JBrowse link
G Insl4 insulin like 4 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:9,365,212...9,367,503 JBrowse link
G Insl6 insulin like 6 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:9,349,033...9,355,817
Ensembl chrNW_004955434:9,349,142...9,355,739 		JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208 		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_004955434:5,247,278...5,279,043
Ensembl chrNW_004955434:5,191,846...5,279,739 		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_004955434:7,122,287...7,133,737
Ensembl chrNW_004955434:7,122,287...7,133,737 		JBrowse link
G Kdm4c lysine demethylase 4C ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:10,646,524...11,000,589
Ensembl chrNW_004955434:10,685,704...11,000,644 		JBrowse link
G Mlana melan-A ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:9,877,301...9,893,079
Ensembl chrNW_004955434:9,877,102...9,894,004 		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_004955434:9,540,047...9,559,335 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_004955434:9,424,793...9,468,055
Ensembl chrNW_004955434:9,424,397...9,468,159 		JBrowse link
G Plpp6 phospholipid phosphatase 6 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:8,953,069...8,955,866
Ensembl chrNW_004955434:8,953,152...8,954,033 		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_004955434:12,033,825...14,132,636
Ensembl chrNW_004955434:12,031,420...12,428,774 		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_004955434:7,208,319...7,245,324
Ensembl chrNW_004955434:7,198,558...7,245,324 		JBrowse link
G Ranbp6 RAN binding protein 6 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:9,995,734...9,999,194
Ensembl chrNW_004955434:9,995,830...9,999,147 		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_004955434:9,073,643...9,137,387
Ensembl chrNW_004955434:9,073,525...9,137,678 		JBrowse link
G Rfx3 regulatory factor X3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:7,635,363...7,910,056
Ensembl chrNW_004955434:7,610,422...7,881,304 		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_004955434:9,675,654...9,770,174
Ensembl chrNW_004955434:9,675,654...9,770,174 		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_004955434:8,790,685...8,879,757
Ensembl chrNW_004955434:8,790,685...8,879,757 		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_004955434:6,420,850...6,592,797
Ensembl chrNW_004955434:6,420,854...6,594,425 		JBrowse link
G Spata6l spermatogenesis associated 6 like ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:8,893,132...8,956,994
Ensembl chrNW_004955434:8,893,964...8,956,844 		JBrowse link
G Tpd52l3 TPD52 like 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:10,291,418...10,293,330 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_004955434:10,337,871...10,413,290
Ensembl chrNW_004955434:10,337,564...10,413,290 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004955434:7,013,092...7,050,103
Ensembl chrNW_004955434:7,013,092...7,050,103 		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_004955434:4,732,584...4,780,990 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_004955481:9,795,102...9,810,426
Ensembl chrNW_004955481:9,795,102...9,810,426 		JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO RGD PMID:12920066 RGD:1599213 NCBI chrNW_004955413:33,660,025...33,714,649
Ensembl chrNW_004955413:33,660,022...33,712,796 		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_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589 		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_004955478:11,131,908...11,186,465
Ensembl chrNW_004955478:11,132,719...11,186,378 		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_004955409:3,925,106...3,940,566 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_004955416:10,197,957...10,221,104
Ensembl chrNW_004955416:10,198,099...10,220,792 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chrNW_004955416:10,074,239...10,113,268
Ensembl chrNW_004955416:10,074,239...10,109,523 		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_004955416:10,139,420...10,141,906 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_004955442:19,334,217...19,346,438
Ensembl chrNW_004955442:19,333,591...19,346,438 		JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family member A2 ISO OMIM:188400 RGD
MouseDO		 PMID:12563036 RGD:734550 NCBI chrNW_004955450:16,406,578...16,453,048
Ensembl chrNW_004955450:16,406,436...16,453,180 		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_004955442:18,109,421...18,149,969
Ensembl chrNW_004955442:18,109,439...18,127,971 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955455:7,598,794...7,727,386
Ensembl chrNW_004955455:7,598,794...7,727,386 		JBrowse link
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955442:17,474,743...17,482,389 JBrowse link
G Ccdc188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chrNW_004955442:17,962,249...17,965,261 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_004955442:18,513,398...18,548,317
Ensembl chrNW_004955442:18,514,731...18,547,805 		JBrowse link
G Chrd chordin ISO OMIM:188400 MouseDO NCBI chrNW_004955420:23,111,690...23,120,038
Ensembl chrNW_004955420:23,112,093...23,120,036 		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_004955442:18,509,501...18,511,267
Ensembl chrNW_004955442:18,509,676...18,510,332 		JBrowse link
G Cltcl1 clathrin heavy chain like 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_004955442:18,688,019...18,803,458
Ensembl chrNW_004955442:18,687,746...18,804,104 		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_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412 		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_004955442:19,358,202...19,388,552
Ensembl chrNW_004955442:19,358,081...19,388,815 		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_004955442:18,570,867...18,575,809
Ensembl chrNW_004955442:18,570,867...18,576,076 		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_004955442:18,857,222...18,938,552
Ensembl chrNW_004955442:18,857,222...18,938,680 		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_004955442:17,810,570...17,815,905 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_004955442:17,998,565...18,034,247
Ensembl chrNW_004955442:17,998,565...18,030,831 		JBrowse link
G Dicer1 dicer 1, ribonuclease III ISO OMIM:188400 MouseDO NCBI chrNW_004955438:17,374,899...17,431,599
Ensembl chrNW_004955438:17,382,493...17,431,797 		JBrowse link
G Dock1 dedicator of cytokinesis 1 ISO OMIM:188400 MouseDO NCBI chrNW_004955477:4,725,780...5,243,812
Ensembl chrNW_004955477:4,725,039...5,243,866 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO RGD PMID:8644734 RGD:1580898 NCBI chrNW_004955486:9,464,390...9,469,984
Ensembl chrNW_004955486:9,464,313...9,469,984 		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_004955442:18,829,037...18,840,542
Ensembl chrNW_004955442:18,828,976...18,840,542 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism
OMIM:188400		 CTD
MouseDO		 PMID:16399080 NCBI chrNW_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770 		JBrowse link
G Foxn1 forkhead box N1 ISO OMIM:188400 MouseDO NCBI chrNW_004955481:4,611,246...4,640,606
Ensembl chrNW_004955481:4,611,087...4,627,113 		JBrowse link
G Gnaz G protein subunit alpha z ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955455:7,501,153...7,554,235
Ensembl chrNW_004955455:7,501,153...7,554,235 		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_004955442:18,224,081...18,281,558 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_004955442:18,359,664...18,360,979
Ensembl chrNW_004955442:18,359,664...18,360,979 		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_004955442:18,824,187...18,825,760
Ensembl chrNW_004955442:18,823,495...18,825,760 		JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955442:17,610,042...17,643,381
Ensembl chrNW_004955442:17,626,190...17,643,455 		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_004955455:10,694,102...10,717,613
Ensembl chrNW_004955455:10,694,102...10,717,613 		JBrowse link
G Hoxa3 homeobox A3 ISO OMIM:188400 MouseDO NCBI chrNW_004955410:28,801,918...28,846,605
Ensembl chrNW_004955410:28,800,139...28,834,429 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO OMIM:188400 RGD
MouseDO		 PMID:22921202 RGD:9590333 NCBI chrNW_004955536:900,198...1,015,520
Ensembl chrNW_004955536:900,198...1,015,520 		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_004955442:19,010,971...19,051,300
Ensembl chrNW_004955442:19,009,155...19,051,393 		JBrowse link
G LOC102009660 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_004955442:18,581,370...18,673,590
Ensembl chrNW_004955442:18,581,370...18,673,761 		JBrowse link
G Lrrc74b leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chrNW_004955442:19,272,350...19,296,090
Ensembl chrNW_004955442:19,272,433...19,287,527 		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_004955442:19,315,427...19,333,361
Ensembl chrNW_004955442:19,315,427...19,333,522 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020 		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_004955442:19,112,269...19,179,742
Ensembl chrNW_004955442:19,112,270...19,179,742 		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_004955454:5,820,291...5,983,262
Ensembl chrNW_004955454:5,820,299...5,983,101 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004955442:18,578,107...18,580,517
Ensembl chrNW_004955442:18,577,952...18,580,517 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO OMIM:188400 MouseDO NCBI chrNW_004955415:4,017,142...4,078,927
Ensembl chrNW_004955415:3,999,473...4,060,998 		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_004955442:19,263,544...19,272,231
Ensembl chrNW_004955442:19,264,790...19,271,537 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955454:6,097,251...6,115,430 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_004955442:19,446,955...19,594,790
Ensembl chrNW_004955442:19,446,955...19,598,725 		JBrowse link
G Plxnd1 plexin D1 ISO OMIM:188400 MouseDO NCBI chrNW_004955429:17,746,814...17,775,072
Ensembl chrNW_004955429:17,746,814...17,776,246 		JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955442:17,426,154...17,449,079
Ensembl chrNW_004955442:17,425,231...17,449,832 		JBrowse link
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent 1F ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955442:17,233,258...17,256,009
Ensembl chrNW_004955442:17,227,723...17,252,383 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955455:6,921,420...6,930,453
Ensembl chrNW_004955455:6,921,052...6,930,537 		JBrowse link
G Rab36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955455:7,574,376...7,590,024
Ensembl chrNW_004955455:7,575,875...7,587,972 		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_004955442:17,985,456...17,992,945
Ensembl chrNW_004955442:17,985,544...17,992,759 		JBrowse link
G Rsph14 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955455:7,491,693...7,574,257
Ensembl chrNW_004955455:7,488,504...7,572,047 		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_004955442:17,866,508...17,891,803
Ensembl chrNW_004955442:17,866,398...17,891,820 		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_004955442:18,995,253...19,006,499
Ensembl chrNW_004955442:18,996,070...19,001,624 		JBrowse link
G Sdf2l1 stromal cell derived factor 2 like 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955442:17,468,302...17,470,296
Ensembl chrNW_004955442:17,468,302...17,470,296 		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_004955442:18,361,072...18,369,648
Ensembl chrNW_004955442:18,359,609...18,369,648 		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_004955442:19,525,411...19,537,986
Ensembl chrNW_004955442:19,525,411...19,538,384 		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_004955442:18,804,319...18,807,353
Ensembl chrNW_004955442:18,804,319...18,808,900 		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_004955442:19,258,901...19,263,317
Ensembl chrNW_004955442:19,258,796...19,263,317 		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_004955442:19,419,381...19,446,782
Ensembl chrNW_004955442:19,419,821...19,446,665 		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_004955455:7,739,105...7,879,489
Ensembl chrNW_004955455:7,739,463...7,882,427 		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_004955442:18,036,477...18,074,036
Ensembl chrNW_004955442:18,036,477...18,074,213 		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_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337 		JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO OMIM:188400 MouseDO NCBI chrNW_004955430:21,919,338...21,999,688
Ensembl chrNW_004955430:21,932,553...22,001,837 		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_004955442:19,311,307...19,313,779
Ensembl chrNW_004955442:19,311,574...19,313,779 		JBrowse link
G Tmem191c transmembrane protein 191C ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955442:17,145,361...17,149,050 JBrowse link
G Top3b DNA topoisomerase III beta ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955442:17,201,079...17,223,824
Ensembl chrNW_004955442:17,200,453...17,225,335 		JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:25197075 RGD:155641238 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928 		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_004955442:17,993,130...17,997,944
Ensembl chrNW_004955442:17,993,434...17,997,850 		JBrowse link
G Tssk2 testis specific serine kinase 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004955442:18,846,491...18,847,485 JBrowse link
G Tuba8 tubulin alpha 8 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955454:6,129,821...6,148,645
Ensembl chrNW_004955454:6,129,612...6,148,645 		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_004955442:18,150,060...18,205,775
Ensembl chrNW_004955442:18,152,152...18,204,327 		JBrowse link
G Ube2l3 ubiquitin conjugating enzyme E2 L3 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955442:17,487,815...17,581,675
Ensembl chrNW_004955442:17,487,815...17,581,675 		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_004955442:18,548,545...18,568,989
Ensembl chrNW_004955442:18,548,545...18,569,366 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955454:6,171,575...6,200,879
Ensembl chrNW_004955454:6,171,569...6,203,091 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO OMIM:188400 MouseDO NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955442:17,481,581...17,483,858
Ensembl chrNW_004955442:17,482,020...17,484,853 		JBrowse link
G Ypel1 yippee like 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955442:17,400,655...17,423,896 JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chrNW_004955442:17,965,186...17,980,854
Ensembl chrNW_004955442:17,965,963...17,980,854 		JBrowse link
G Znf280a zinc finger protein 280A ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955455:6,893,363...6,899,637 JBrowse link
G Znf280b zinc finger protein 280B ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chrNW_004955455:6,866,576...6,888,907
Ensembl chrNW_004955455:6,866,762...6,868,411 		JBrowse link
G Znf366 zinc finger protein 366 ISO OMIM:188400 MouseDO NCBI chrNW_004955575:1,223,834...1,289,668
Ensembl chrNW_004955575:1,223,781...1,289,855 		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_004955442:18,969,061...18,982,193 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_004955429:7,559,994...7,730,683
Ensembl chrNW_004955429:7,358,758...7,725,648 		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_004955477:3,917,637...4,263,529
Ensembl chrNW_004955477:3,922,644...4,263,296 		JBrowse link
G Adam8 ADAM metallopeptidase domain 8 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:10,894,288...10,906,961
Ensembl chrNW_004955477:10,895,446...10,907,215 		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_004955477:10,721,635...10,761,357
Ensembl chrNW_004955477:10,723,070...10,762,326 		JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:9,621,812...9,630,406
Ensembl chrNW_004955477:9,621,812...9,638,099 		JBrowse link
G Caly calcyon neuron specific vesicular protein ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:10,983,602...10,993,371
Ensembl chrNW_004955477:10,983,133...10,987,331 		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_004955477:10,412,774...10,517,415
Ensembl chrNW_004955477:10,413,017...10,517,337 		JBrowse link
G Clrn3 clarin 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:5,663,188...5,676,430
Ensembl chrNW_004955477:5,663,488...5,676,459 		JBrowse link
G CUNH10orf90 chromosome unknown C10orf90 homolog ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:4,299,277...4,510,702
Ensembl chrNW_004955477:4,297,588...4,510,959 		JBrowse link
G Dhx32 DEAH-box helicase 32 (putative) ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:3,720,988...3,778,424
Ensembl chrNW_004955477:3,716,832...3,786,199 		JBrowse link
G Dock1 dedicator of cytokinesis 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:4,725,780...5,243,812
Ensembl chrNW_004955477:4,725,039...5,243,866 		JBrowse link
G Dpysl4 dihydropyrimidinase like 4 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:9,828,766...9,844,975
Ensembl chrNW_004955477:9,828,766...9,845,002 		JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:7,435,324...7,557,212
Ensembl chrNW_004955477:7,434,482...7,556,504 		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_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486 		JBrowse link
G Foxi2 forkhead box I2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:5,548,676...5,552,882
Ensembl chrNW_004955477:5,548,812...5,551,313 		JBrowse link
G Fuom fucose mutarotase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:11,004,871...11,008,479
Ensembl chrNW_004955477:11,002,591...11,008,478 		JBrowse link
G Glrx3 glutaredoxin 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:7,715,257...7,748,913
Ensembl chrNW_004955477:7,715,257...7,752,818 		JBrowse link
G Inpp5a inositol polyphosphate-5-phosphatase A ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:10,148,032...10,384,361
Ensembl chrNW_004955477:10,148,032...10,384,355 		JBrowse link
G Insyn2a inhibitory synaptic factor 2A ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:4,945,431...5,003,381
Ensembl chrNW_004955477:4,945,431...5,003,408 		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_004955477:9,681,239...9,827,704
Ensembl chrNW_004955477:9,680,798...9,807,420 		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_004955477:10,792,066...10,850,457
Ensembl chrNW_004955477:10,792,394...10,850,186 		JBrowse link
G LOC102026028 cytochrome P450 2E1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955507:6,293,162...6,303,255
Ensembl chrNW_004955507:6,289,576...6,304,193 		JBrowse link
G Lrrc27 leucine rich repeat containing 27 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:9,970,199...10,005,562
Ensembl chrNW_004955477:9,971,593...10,007,486 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:7,103,035...7,375,073
Ensembl chrNW_004955477:7,102,977...7,376,530 		JBrowse link
G Mki67 marker of proliferation Ki-67 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:5,847,288...5,875,970 JBrowse link
G Mtg1 mitochondrial ribosome associated GTPase 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:11,040,381...11,057,912
Ensembl chrNW_004955477:11,041,045...11,057,574 		JBrowse link
G Nkx6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:10,386,033...10,387,423
Ensembl chrNW_004955477:10,386,033...10,387,423 		JBrowse link
G Paox polyamine oxidase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:11,028,488...11,038,556
Ensembl chrNW_004955477:11,028,488...11,038,556 		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_004955477:9,571,974...9,611,076 JBrowse link
G Prap1 proline rich acidic protein 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:10,982,530...11,002,747
Ensembl chrNW_004955477:10,999,168...11,002,651 		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_004955477:5,688,936...5,838,264
Ensembl chrNW_004955477:5,688,817...5,838,761 		JBrowse link
G Pwwp2b PWWP domain containing 2B ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:10,017,449...10,039,691
Ensembl chrNW_004955477:10,017,443...10,039,675 		JBrowse link
G Sprn shadow of prion protein ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:11,058,388...11,062,786
Ensembl chrNW_004955477:11,058,388...11,062,574 		JBrowse link
G Stk32c serine/threonine kinase 32C ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:9,846,602...9,947,927
Ensembl chrNW_004955477:9,846,397...9,948,784 		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_004955507:6,263,070...6,271,289
Ensembl chrNW_004955507:6,264,059...6,271,729 		JBrowse link
G Tcerg1l transcription elongation regulator 1 like ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:8,652,282...8,850,439
Ensembl chrNW_004955477:8,652,246...8,850,445 		JBrowse link
G Tubgcp2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:10,909,213...10,932,833
Ensembl chrNW_004955477:10,907,298...10,932,649 		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_004955477:10,855,471...10,857,044 JBrowse link
G Ventx VENT homeobox ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:10,945,539...10,948,735 JBrowse link
G Znf511 zinc finger protein 511 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955477:10,932,833...10,941,562
Ensembl chrNW_004955477:10,932,851...10,936,110 		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_004955478:3,526,376...3,586,811
Ensembl chrNW_004955478:3,519,368...3,586,811 		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_004955441:14,155,084...14,167,584
Ensembl chrNW_004955441:14,155,082...14,169,161 		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_004955459:8,892,917...9,124,672
Ensembl chrNW_004955459:8,892,869...9,118,499 		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_004955429:19,367,352...19,372,358
Ensembl chrNW_004955429:19,371,693...19,372,310 		JBrowse link
G Akr1e2 aldo-keto reductase family 1 member E2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:714,843...731,285
Ensembl chrNW_004955429:715,157...731,303 		JBrowse link
G Ankrd16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,520,707...22,535,618
Ensembl chrNW_004955421:22,521,284...22,534,873 		JBrowse link
G Arl5b ARF like GTPase 5B ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:9,564,685...9,589,997
Ensembl chrNW_004955429:9,566,411...9,589,997 		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_004955421:22,328,393...22,380,656
Ensembl chrNW_004955421:22,327,523...22,349,641 		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_004955421:24,234,473...24,253,640
Ensembl chrNW_004955421:24,234,413...24,253,640 		JBrowse link
G Bend7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:20,674,390...20,756,760
Ensembl chrNW_004955429:20,674,392...20,754,634 		JBrowse link
G C1ql3 complement C1q like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:11,287,486...11,296,716
Ensembl chrNW_004955429:11,287,486...11,296,716 		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_004955429:9,642,725...9,966,175
Ensembl chrNW_004955429:9,644,053...9,966,175 		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_004955462:391,235...819,240
Ensembl chrNW_004955462:391,235...813,598 		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_004955462:909,300...1,013,927
Ensembl chrNW_004955462:909,300...1,013,927 		JBrowse link
G Cdc123 cell division cycle 123 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:212,090...270,168
Ensembl chrNW_004955462:212,090...274,334 		JBrowse link
G Cdnf cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,586,841...19,592,727
Ensembl chrNW_004955429:19,583,041...19,593,792 		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_004955421:27,064,497...27,374,850
Ensembl chrNW_004955421:26,992,734...27,374,850 		JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:10,789,674...11,038,297
Ensembl chrNW_004955429:10,788,959...11,038,845 		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_004955429:19,461,446...19,501,908
Ensembl chrNW_004955429:19,461,528...19,505,321 		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_004955462:103,501...163,472
Ensembl chrNW_004955462:103,598...162,344 		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_004955421:27,712,527...27,731,141
Ensembl chrNW_004955421:27,712,528...27,730,623 		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_004955429:19,748,880...19,818,453 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_004955429:19,184,886...19,241,987
Ensembl chrNW_004955429:19,114,953...19,241,987 		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_004955421:22,535,777...22,579,965
Ensembl chrNW_004955421:22,535,777...22,579,965 		JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,981,599...20,552,700 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_004955421:24,448,446...24,477,885
Ensembl chrNW_004955421:24,457,496...24,478,744 		JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,449,620...22,480,721
Ensembl chrNW_004955421:22,450,402...22,480,512 		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_004955429:10,394,046...10,406,945
Ensembl chrNW_004955429:10,384,708...10,406,945 		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_004955429:19,533,586...19,577,834
Ensembl chrNW_004955429:19,533,524...19,578,532 		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_004955421:22,590,168...22,612,835
Ensembl chrNW_004955421:22,586,012...22,620,788 		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_004955421:22,642,004...22,694,729
Ensembl chrNW_004955421:22,641,511...22,694,913 		JBrowse link
G Itga8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:11,932,764...12,120,757
Ensembl chrNW_004955429:11,932,570...12,120,821 		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_004955421:24,149,081...24,189,810
Ensembl chrNW_004955421:24,150,526...24,189,810 		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_004955421:24,042,405...24,125,085
Ensembl chrNW_004955421:24,043,182...24,125,085 		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_004955421:24,196,909...24,234,320 JBrowse link
G LOC102023269 calmodulin-like protein 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,205,476...22,219,715
Ensembl chrNW_004955421:22,214,339...22,219,715 		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_004955462:1,151,163...1,186,601
Ensembl chrNW_004955462:1,153,058...1,188,799 		JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,435,004...19,444,833
Ensembl chrNW_004955429:19,433,900...19,444,360 		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_004955429:11,805,205...11,890,103
Ensembl chrNW_004955429:11,805,080...11,890,103 		JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,105,292...22,154,368
Ensembl chrNW_004955421:22,105,257...22,156,292 		JBrowse link
G Nmt2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,282,568...19,356,322 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_004955429:9,594,964...9,639,614
Ensembl chrNW_004955429:9,594,958...9,639,614 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:190,872...211,975
Ensembl chrNW_004955462:190,999...203,736 		JBrowse link
G Olah oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,375,366...19,394,068
Ensembl chrNW_004955429:19,376,190...19,394,119 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:1,098,118...1,150,291
Ensembl chrNW_004955462:1,107,510...1,151,269 		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_004955421:22,762,290...22,868,677
Ensembl chrNW_004955421:22,848,548...22,866,035 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:1,238,622...1,250,731
Ensembl chrNW_004955462:1,238,622...1,250,736 		JBrowse link
G Prkcq protein kinase C theta ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:23,072,607...23,151,591
Ensembl chrNW_004955421:23,070,955...23,175,699 		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_004955421:27,809,610...27,823,125 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_004955429:20,581,457...20,613,258
Ensembl chrNW_004955429:20,581,457...20,613,257 		JBrowse link
G Pter phosphotriesterase related ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:11,296,833...11,356,082
Ensembl chrNW_004955429:11,293,644...11,356,239 		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_004955421:22,732,757...22,745,926
Ensembl chrNW_004955421:22,732,757...22,746,014 		JBrowse link
G Rpp38 ribonuclease P/MRP subunit p38 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,358,765...19,360,973
Ensembl chrNW_004955429:19,358,765...19,360,973 		JBrowse link
G Rsu1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:11,043,205...11,234,698
Ensembl chrNW_004955429:11,043,040...11,235,758 		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_004955462:166,423...189,592
Ensembl chrNW_004955462:166,423...189,585 		JBrowse link
G Sephs1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:20,849,526...20,871,074
Ensembl chrNW_004955429:20,847,861...20,871,074 		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_004955421:23,691,648...23,913,781 JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:10,053,022...10,116,713
Ensembl chrNW_004955429:10,052,968...10,116,727 		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_004955429:10,538,660...10,660,493
Ensembl chrNW_004955429:10,538,661...10,658,008 		JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:10,306,957...10,366,072
Ensembl chrNW_004955429:10,306,957...10,366,081 		JBrowse link
G Suv39h2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,503,197...19,526,454
Ensembl chrNW_004955429:19,503,197...19,528,027 		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_004955421:24,263,395...24,414,472 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_004955421:22,381,295...22,448,115
Ensembl chrNW_004955421:22,401,983...22,447,453 		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_004955429:10,741,512...10,774,268
Ensembl chrNW_004955429:10,742,097...10,771,877 		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_004955462:1,195,738...1,204,255
Ensembl chrNW_004955462:1,195,608...1,204,266 		JBrowse link
G Ucn3 urocortin 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955463:218,456...218,959 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_004955421:27,867,663...27,962,809
Ensembl chrNW_004955421:27,861,958...27,952,835 		JBrowse link
G Usp6nl USP6 N-terminal like ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:27,469,652...27,593,771
Ensembl chrNW_004955421:27,471,483...27,593,775 		JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:10,708,852...10,716,743
Ensembl chrNW_004955429:10,707,719...10,717,554 		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_004955441:11,453,939...11,830,893
Ensembl chrNW_004955441:11,454,345...11,825,211 		JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chrNW_004955441:11,276,525...11,338,586
Ensembl chrNW_004955441:11,276,525...11,352,095 		JBrowse link
G Prepl prolyl endopeptidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chrNW_004955441:11,418,299...11,453,889
Ensembl chrNW_004955441:11,418,299...11,453,218 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chrNW_004955441:11,381,390...11,418,193
Ensembl chrNW_004955441:11,381,441...11,418,025 		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_004955412:35,067,637...35,083,889
Ensembl chrNW_004955412:35,067,702...35,083,889 		JBrowse link
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:26,654,980...26,664,989
Ensembl chrNW_004955412:26,655,208...26,664,888 		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_004955412:31,336,759...31,360,905
Ensembl chrNW_004955412:31,336,759...31,360,957 		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_004955412:31,295,436...31,336,781
Ensembl chrNW_004955412:31,296,051...31,314,835 		JBrowse link
G Aplp2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:31,043,320...31,075,617
Ensembl chrNW_004955412:31,043,320...31,075,617 		JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:29,910,395...30,113,959
Ensembl chrNW_004955412:29,910,395...30,203,340 		JBrowse link
G B3gat1 beta-1,3-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:35,294,434...35,321,873
Ensembl chrNW_004955412:35,294,434...35,321,851 		JBrowse link
G Barx2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:30,345,837...30,418,186
Ensembl chrNW_004955412:30,345,311...30,418,232 		JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:26,014,842...26,089,556
Ensembl chrNW_004955412:26,005,090...26,089,615 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:27,004,391...27,093,968
Ensembl chrNW_004955412:27,003,919...27,065,989 		JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:26,627,606...26,650,554 JBrowse link
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:27,326,946...27,367,455
Ensembl chrNW_004955412:27,326,971...27,367,342 		JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:26,952,655...26,973,758
Ensembl chrNW_004955412:26,952,239...26,972,100 		JBrowse link
G Ei24 EI24 autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:26,574,814...26,586,154
Ensembl chrNW_004955412:26,574,866...26,585,161 		JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:29,433,730...29,602,389
Ensembl chrNW_004955412:29,432,482...29,545,580 		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_004955412:27,239,420...27,287,097
Ensembl chrNW_004955412:27,238,517...27,287,097 		JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:26,477,995...26,530,686
Ensembl chrNW_004955412:26,477,301...26,531,354 		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_004955412:29,653,621...29,773,412
Ensembl chrNW_004955412:29,654,459...29,775,903 		JBrowse link
G Foxred1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:27,293,467...27,300,522 JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:25,981,235...25,998,296
Ensembl chrNW_004955412:25,980,460...25,998,482 		JBrowse link
G Hyls1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:26,937,460...26,949,571
Ensembl chrNW_004955412:26,937,654...26,951,636 		JBrowse link
G Igsf9b immunoglobulin superfamily member 9B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:34,712,556...34,828,013
Ensembl chrNW_004955412:34,724,220...34,767,970 		JBrowse link
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:34,901,850...34,967,394
Ensembl chrNW_004955412:34,901,681...34,967,394 		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_004955412:29,801,022...29,832,153
Ensembl chrNW_004955412:29,801,022...29,829,674 		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_004955412:29,850,097...29,874,213
Ensembl chrNW_004955412:29,850,097...29,874,213 		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_004955412:27,428,360...27,994,458
Ensembl chrNW_004955412:27,428,360...27,991,321 		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_004955412:25,841,139...25,877,839
Ensembl chrNW_004955412:25,841,139...25,877,839 		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_004955412:34,967,464...35,035,103
Ensembl chrNW_004955412:34,963,854...35,035,111 		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_004955412:30,817,151...30,848,992
Ensembl chrNW_004955412:30,813,769...30,849,001 		JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:25,809,512...25,818,237
Ensembl chrNW_004955412:25,809,512...25,818,237 		JBrowse link
G Ntm neurotrimin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:32,779,245...33,194,093
Ensembl chrNW_004955412:32,227,794...33,195,101 		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_004955412:33,256,013...34,385,603
Ensembl chrNW_004955412:33,256,352...34,383,243 		JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:25,676,286...25,684,841
Ensembl chrNW_004955412:25,676,286...25,684,841 		JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:26,801,951...26,804,312
Ensembl chrNW_004955412:26,801,951...26,804,312 		JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:26,842,719...26,844,208
Ensembl chrNW_004955412:26,842,682...26,844,315 		JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:26,912,925...26,914,668 JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:26,214,671...26,468,737
Ensembl chrNW_004955412:26,372,846...26,468,926 		JBrowse link
G Prdm10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:30,855,909...30,929,998
Ensembl chrNW_004955412:30,852,969...30,917,510 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:26,941,837...26,951,524
Ensembl chrNW_004955412:26,942,082...26,945,624 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:25,937,624...25,953,458
Ensembl chrNW_004955412:25,937,624...25,953,189 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:25,954,906...25,967,707
Ensembl chrNW_004955412:25,954,085...25,967,723 		JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:27,231,371...27,239,366
Ensembl chrNW_004955412:27,229,492...27,239,339 		JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:25,704,024...25,741,646
Ensembl chrNW_004955412:25,703,591...25,792,252 		JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:26,119,121...26,143,728
Ensembl chrNW_004955412:26,118,572...26,143,728 		JBrowse link
G Snx19 sorting nexin 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:31,747,519...31,791,022
Ensembl chrNW_004955412:31,747,760...31,791,044 		JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:25,741,369...25,753,681
Ensembl chrNW_004955412:25,741,228...25,753,903 		JBrowse link
G Spata19 spermatogenesis associated 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:34,684,298...34,689,163
Ensembl chrNW_004955412:34,684,247...34,689,403 		JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:27,287,359...27,293,362
Ensembl chrNW_004955412:27,287,368...27,293,362 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:31,091,313...31,129,050
Ensembl chrNW_004955412:31,090,504...31,129,050 		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_004955412:27,376,270...27,418,770
Ensembl chrNW_004955412:27,387,039...27,418,770 		JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:26,593,142...26,624,143
Ensembl chrNW_004955412:26,595,666...26,623,621 		JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:25,686,105...25,713,363
Ensembl chrNW_004955412:25,685,761...25,701,055 		JBrowse link
G Thyn1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:35,061,874...35,067,631
Ensembl chrNW_004955412:35,061,874...35,067,352 		JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:27,303,548...27,315,031
Ensembl chrNW_004955412:27,312,489...27,315,031 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:26,149,816...26,166,470
Ensembl chrNW_004955412:26,151,452...26,166,470 		JBrowse link
G Tmem45b transmembrane protein 45B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:30,776,765...30,814,512
Ensembl chrNW_004955412:30,776,580...30,814,512 		JBrowse link
G Vps26b VPS26, retromer complex component B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chrNW_004955412:35,035,730...35,061,441
Ensembl chrNW_004955412:35,035,208...35,061,441 		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_004955412:25,818,501...25,823,393
Ensembl chrNW_004955412:25,818,566...25,823,224 		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_004955412:31,146,620...31,205,226
Ensembl chrNW_004955412:31,147,147...31,205,226 		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_004955513:5,035,879...5,051,140
Ensembl chrNW_004955513:5,033,771...5,051,200 		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_004955413:17,385,966...17,510,220
Ensembl chrNW_004955413:17,382,564...17,510,132 		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_004955513:2,761,386...2,786,447
Ensembl chrNW_004955513:2,764,186...2,786,187 		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_004955513:2,849,310...2,879,130
Ensembl chrNW_004955513:2,849,271...2,879,848 		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_004955513:4,142,074...4,145,097
Ensembl chrNW_004955513:4,135,460...4,149,677 		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_004955513:4,924,344...4,930,850
Ensembl chrNW_004955513:4,924,620...4,930,850 		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_004955513:5,183,472...5,194,253
Ensembl chrNW_004955513:5,183,472...5,194,253 		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_004955513:5,479,468...5,486,489
Ensembl chrNW_004955513:5,479,468...5,490,990 		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_004955513:3,145,267...3,164,791
Ensembl chrNW_004955513:3,145,288...3,174,370 		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_004955513:2,787,098...2,796,132
Ensembl chrNW_004955513:2,787,099...2,796,132 		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_004955513:5,654,915...5,823,094
Ensembl chrNW_004955513:5,654,238...5,824,386 		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_004955513:4,649,816...4,704,282
Ensembl chrNW_004955513:4,667,292...4,705,910 		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_004955513:4,350,873...4,359,345
Ensembl chrNW_004955513:4,350,147...4,359,345 		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_004955513:4,897,359...4,904,559
Ensembl chrNW_004955513:4,897,359...4,904,559 		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_004955513:5,239,239...5,245,859
Ensembl chrNW_004955513:5,235,629...5,245,859 		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_004955513:5,020,105...5,022,000
Ensembl chrNW_004955513:5,020,144...5,021,936 		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_004955513:3,533,612...3,660,605
Ensembl chrNW_004955513:3,533,614...3,658,161 		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_004955513:5,223,124...5,224,650
Ensembl chrNW_004955513:5,223,124...5,224,650 		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_004955513:2,918,085...2,932,481
Ensembl chrNW_004955513:2,918,286...2,932,247 		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_004955513:4,120,061...4,123,964
Ensembl chrNW_004955513:4,120,061...4,123,971 		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_004955513:4,359,421...4,361,081
Ensembl chrNW_004955513:4,359,421...4,361,081 		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_004955513:5,438,746...5,449,461 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_004955513:5,105,833...5,109,676
Ensembl chrNW_004955513:5,106,430...5,109,483 		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_004955513:4,942,268...4,945,645
Ensembl chrNW_004955513:4,942,268...4,946,000 		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_004955513:4,145,059...4,154,918
Ensembl chrNW_004955513:4,142,108...4,151,421 		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_004955513:5,491,446...5,642,559
Ensembl chrNW_004955513:5,547,313...5,641,499 		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_004955513:5,070,050...5,075,098
Ensembl chrNW_004955513:5,068,875...5,075,098 		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_004955513:5,352,843...5,357,671
Ensembl chrNW_004955513:5,353,229...5,356,019 		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_004955513:4,322,002...4,329,479
Ensembl chrNW_004955513:4,322,871...4,330,012 		JBrowse link
G Exd3 exonuclease 3'-5' domain 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_004955513:5,314,370...5,336,052 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_004955513:2,880,253...2,903,575
Ensembl chrNW_004955513:2,880,253...2,903,575 		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_004955513:4,993,161...4,996,922
Ensembl chrNW_004955513:4,993,161...4,996,921 		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_004955513:3,690,550...3,697,785
Ensembl chrNW_004955513:3,687,232...3,698,673 		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_004955513:5,056,718...5,061,974 JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chrNW_004955513:4,792,103...4,812,302
Ensembl chrNW_004955513:4,792,779...4,814,999 		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_004955513:4,363,534...4,387,356
Ensembl chrNW_004955513:4,361,139...4,387,356 		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_004955513:5,154,864...5,178,636
Ensembl chrNW_004955513:5,154,864...5,178,636 		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_004955513:4,304,483...4,313,087
Ensembl chrNW_004955513:4,304,483...4,313,087 		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_004955513:4,712,772...4,765,657
Ensembl chrNW_004955513:4,712,516...4,765,657 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:25741868 PMID:39013459 NCBI chrNW_004955491:6,245,408...6,420,535
Ensembl chrNW_004955491:6,247,249...6,402,470 		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_004955513:4,063,245...4,066,160
Ensembl chrNW_004955513:4,063,999...4,066,160 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chrNW_004955513:4,997,015...5,003,691
Ensembl chrNW_004955513:4,998,288...5,003,691 		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_004955513:4,860,420...4,863,716
Ensembl chrNW_004955513:4,860,662...4,863,648 		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_004955513:4,877,845...4,879,978
Ensembl chrNW_004955513:4,877,501...4,879,978 		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_004955513:4,786,615...4,788,768 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_004955513:5,012,879...5,015,482 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_004955513:4,464,149...4,470,962
Ensembl chrNW_004955513:4,464,149...4,470,962 		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_004955513:5,178,631...5,180,462
Ensembl chrNW_004955513:5,178,631...5,180,462 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chrNW_004955513:4,932,596...4,941,330
Ensembl chrNW_004955513:4,933,927...4,941,160 		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_004955513:5,109,651...5,122,568
Ensembl chrNW_004955513:5,111,046...5,122,442 		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_004955513:5,436,174...5,437,016
Ensembl chrNW_004955513:5,436,174...5,437,016 		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_004955513:4,055,814...4,058,507
Ensembl chrNW_004955513:4,055,819...4,062,049 		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_004955513:2,835,466...2,842,325
Ensembl chrNW_004955513:2,833,234...2,842,325 		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_004955513:4,560,903...4,595,081
Ensembl chrNW_004955513:4,561,643...4,595,364 		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_004955513:5,208,040...5,216,618
Ensembl chrNW_004955513:5,208,151...5,216,182 		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_004955513:5,248,190...5,261,018
Ensembl chrNW_004955513:5,248,190...5,262,044 		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_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259 		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_004955513:5,345,521...5,352,879
Ensembl chrNW_004955513:5,345,619...5,352,834 		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_004955513:5,063,448...5,066,108
Ensembl chrNW_004955513:5,063,704...5,066,106 		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_004955468:12,985,105...13,002,850 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_004955513:5,368,384...5,376,480
Ensembl chrNW_004955513:5,369,218...5,375,670 		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_004955733:6,189...30,455
Ensembl chrNW_004955733:6,189...30,455 		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_004955513:5,017,971...5,019,489
Ensembl chrNW_004955513:5,017,971...5,019,489 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chrNW_004955513:4,930,951...4,932,509
Ensembl chrNW_004955513:4,930,951...4,932,509 		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_004955513:4,047,764...4,055,692
Ensembl chrNW_004955513:4,052,413...4,055,691 		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_004955513:4,315,159...4,322,609
Ensembl chrNW_004955513:4,315,159...4,322,609 		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_004955513:5,376,690...5,436,095
Ensembl chrNW_004955513:5,376,699...5,434,581 		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_004955513:4,039,819...4,046,482
Ensembl chrNW_004955513:4,042,763...4,046,467 		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_004955513:5,009,530...5,012,781
Ensembl chrNW_004955513:5,009,625...5,012,781 		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_004955513:4,438,078...4,463,276
Ensembl chrNW_004955513:4,438,015...4,463,319 		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_004955513:4,904,659...4,923,225
Ensembl chrNW_004955513:4,904,958...4,922,599 		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_004955513:2,745,220...2,754,927
Ensembl chrNW_004955513:2,745,842...2,752,792 		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_004955513:5,219,250...5,223,043
Ensembl chrNW_004955513:5,219,425...5,220,228 		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_004955513:5,224,740...5,227,395
Ensembl chrNW_004955513:5,224,740...5,227,395 		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_004955513:3,313,544...3,386,544
Ensembl chrNW_004955513:3,335,897...3,386,994 		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_004955513:5,086,379...5,090,876 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_004955513:2,933,918...2,975,645
Ensembl chrNW_004955513:2,933,918...2,976,931 		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_004955513:4,272,623...4,304,314
Ensembl chrNW_004955513:4,273,581...4,303,157 		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_004955513:2,796,086...2,802,051
Ensembl chrNW_004955513:2,796,531...2,802,054 		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_004955513:5,228,575...5,233,501
Ensembl chrNW_004955513:5,228,598...5,234,128 		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_004955513:4,330,579...4,349,136
Ensembl chrNW_004955513:4,330,293...4,350,012 		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_004955513:4,767,591...4,771,654 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_004955513:5,194,308...5,195,721
Ensembl chrNW_004955513:5,194,308...5,195,721 		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_004955513:2,726,339...2,745,099
Ensembl chrNW_004955513:2,726,339...2,744,998 		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_004955513:5,245,861...5,247,582
Ensembl chrNW_004955513:5,245,861...5,247,582 		JBrowse link
G Surf1 surfeit 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chrNW_004955513:2,707,877...2,711,606
Ensembl chrNW_004955513:2,707,951...2,711,566 		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_004955513:2,711,605...2,715,667
Ensembl chrNW_004955513:2,711,679...2,714,789 		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_004955513:2,715,638...2,719,537
Ensembl chrNW_004955513:2,714,321...2,720,073 		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_004955513:4,892,650...4,894,371
Ensembl chrNW_004955513:4,892,674...4,894,371 		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_004955513:5,206,407...5,207,882
Ensembl chrNW_004955513:5,207,446...5,207,856 		JBrowse link
G Tmem210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chrNW_004955513:5,180,542...5,181,488
Ensembl chrNW_004955513:5,180,542...5,181,488 		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_004955513:4,520,445...4,524,203
Ensembl chrNW_004955513:4,520,445...4,524,203 		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_004955513:5,263,299...5,265,622
Ensembl chrNW_004955513:5,264,066...5,265,386 		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_004955513:5,196,871...5,205,945
Ensembl chrNW_004955513:5,197,280...5,203,445 		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_004955513:4,964,692...4,984,359
Ensembl chrNW_004955513:4,967,984...4,983,987 		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_004955513:5,237,050...5,239,370
Ensembl chrNW_004955513:5,235,629...5,239,370 		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_004955513:5,095,744...5,101,170
Ensembl chrNW_004955513:5,095,068...5,101,289 		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_004955513:4,620,978...4,640,318
Ensembl chrNW_004955513:4,621,242...4,640,318 		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_004955513:2,985,246...3,121,324
Ensembl chrNW_004955513:2,985,246...3,121,324 		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_004955513:3,198,655...3,213,754
Ensembl chrNW_004955513:3,198,980...3,216,468 		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_004955513:5,452,399...5,458,258
Ensembl chrNW_004955513:5,452,360...5,458,464 		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_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545 		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_004955478:10,380,185...10,390,838
Ensembl chrNW_004955478:10,379,287...10,404,825 		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_004955412:10,533,174...10,567,364
Ensembl chrNW_004955412:10,533,441...10,567,612 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: KANSL1-related condition | ClinVar Annotator: match by term: Koolen-de Vries syndrome OMIM
ClinVar		 PMID:2544363 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18628315 More... NCBI chrNW_004955478:10,039,687...10,221,170
Ensembl chrNW_004955478:10,040,284...10,221,170 		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_004955478:10,222,439...10,271,439
Ensembl chrNW_004955478:10,225,823...10,271,442 		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_004955478:10,368,379...10,370,624
Ensembl chrNW_004955478:10,365,857...10,370,548 		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_004955481:1,194,428...1,205,231
Ensembl chrNW_004955481:1,194,428...1,205,231 		JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISO OMIM:247200 MouseDO NCBI chrNW_004955481:1,179,015...1,182,936
Ensembl chrNW_004955481:1,179,015...1,181,825 		JBrowse link
G Mnt MAX network transcriptional repressor ISO OMIM:247200 MouseDO NCBI chrNW_004955481:852,539...866,731
Ensembl chrNW_004955481:852,879...866,643 		JBrowse link
G Myo1c myosin IC ISO ClinVar Annotator: match by term: Miller Dieker syndrome ClinVar PMID:25741868 NCBI chrNW_004955481:1,676,788...1,701,421
Ensembl chrNW_004955481:1,676,728...1,703,488 		JBrowse link
G Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO OMIM:247200 MouseDO NCBI chrNW_004955481:608,897...686,454
Ensembl chrNW_004955481:608,897...686,452 		JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISO OMIM:247200 MouseDO NCBI chrNW_004955481:1,752,778...1,805,700
Ensembl chrNW_004955481:1,752,778...1,808,583 		JBrowse link
Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9l sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 1 | ClinVar Annotator: match by term: Monosomy 7 of bone marrow OMIM
ClinVar		 PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 PMID:28492532 More... NCBI chrNW_004955432:10,007,631...10,028,989
Ensembl chrNW_004955432:10,007,936...10,012,693 		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_004955432:9,957,521...9,972,622
Ensembl chrNW_004955432:9,957,677...9,962,389 		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_004955423:27,799,976...28,108,307
Ensembl chrNW_004955423:27,806,873...28,112,268 		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_004955413:33,721,984...33,728,088 JBrowse link
G Adm2 adrenomedullin 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,460,975...33,469,935
Ensembl chrNW_004955413:33,465,982...33,466,953 		JBrowse link
G Alg12 ALG12 alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,030,994...33,039,622
Ensembl chrNW_004955413:33,029,116...33,039,700 		JBrowse link
G Arhgap8 Rho GTPase activating protein 8 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:29,385,840...29,434,345
Ensembl chrNW_004955413:29,404,576...29,434,464 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771 		JBrowse link
G Atxn10 ataxin 10 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:29,956,904...30,104,868
Ensembl chrNW_004955413:29,981,236...30,104,552 		JBrowse link
G Bik BCL2 interacting killer ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:28,277,727...28,294,032 JBrowse link
G Brd1 bromodomain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:32,935,827...32,973,820
Ensembl chrNW_004955413:32,935,827...32,973,804 		JBrowse link
G Cdpf1 cysteine rich DPF motif domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:30,366,346...30,372,210
Ensembl chrNW_004955413:30,366,346...30,368,864 		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_004955413:30,455,194...30,561,124
Ensembl chrNW_004955413:30,457,030...30,561,124 		JBrowse link
G Cerk ceramide kinase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:30,658,472...30,693,948
Ensembl chrNW_004955413:30,660,593...30,679,674 		JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,588,375...33,592,054
Ensembl chrNW_004955413:33,588,600...33,591,758 		JBrowse link
G Cimap1b ciliary microtubule associated protein 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,509,185...33,511,002
Ensembl chrNW_004955413:33,509,244...33,510,607 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar PMID:25741868 NCBI chrNW_004955490:7,168,725...7,409,655
Ensembl chrNW_004955490:7,168,676...7,409,887 		JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,578,734...33,588,055
Ensembl chrNW_004955413:33,578,355...33,588,674 		JBrowse link
G Creld2 cysteine rich with EGF like domains 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,039,931...33,046,622
Ensembl chrNW_004955413:33,040,024...33,046,390 		JBrowse link
G Dennd6b DENN domain containing 6B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,324,081...33,336,518
Ensembl chrNW_004955413:33,324,087...33,336,518 		JBrowse link
G Efcab6 EF-hand calcium binding domain 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:28,569,080...28,783,455
Ensembl chrNW_004955413:28,567,634...28,783,565 		JBrowse link
G Fam118a family with sequence similarity 118 member A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:29,685,697...29,707,860
Ensembl chrNW_004955413:29,685,702...29,707,860 		JBrowse link
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:29,837,134...29,911,313
Ensembl chrNW_004955413:29,837,134...29,912,222 		JBrowse link
G Gramd4 GRAM domain containing 4 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:30,603,820...30,656,940
Ensembl chrNW_004955413:30,603,580...30,656,940 		JBrowse link
G Gtse1 G2 and S-phase expressed 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:30,414,007...30,438,363
Ensembl chrNW_004955413:30,413,967...30,438,040 		JBrowse link
G Hdac10 histone deacetylase 10 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,272,600...33,277,893
Ensembl chrNW_004955413:33,272,714...33,277,686 		JBrowse link
G Ins insulin ISO CTD Direct Evidence: therapeutic CTD PMID:18948358 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419 		JBrowse link
G Kiaa0930 KIAA0930 ortholog ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:29,622,818...29,654,493
Ensembl chrNW_004955413:29,622,818...29,654,493 		JBrowse link
G Klhdc7b kelch domain containing 7B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,534,794...33,536,614 JBrowse link
G Lmf2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,487,970...33,492,033
Ensembl chrNW_004955413:33,487,917...33,492,033 		JBrowse link
G LOC106146232 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,503,882...33,505,417 JBrowse link
G Mapk11 mitogen-activated protein kinase 11 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,287,860...33,293,948
Ensembl chrNW_004955413:33,286,390...33,294,227 		JBrowse link
G Mapk12 mitogen-activated protein kinase 12 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,278,913...33,285,920
Ensembl chrNW_004955413:33,279,344...33,286,422 		JBrowse link
G Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,608,092...33,617,984
Ensembl chrNW_004955413:33,608,655...33,617,255 		JBrowse link
G Mcat malonyl-CoA-acyl carrier protein transacylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:28,296,507...28,301,669
Ensembl chrNW_004955413:28,296,964...28,301,722 		JBrowse link
G Miox myo-inositol oxygenase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,476,097...33,478,539
Ensembl chrNW_004955413:33,476,033...33,478,539 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,120,426...33,142,149
Ensembl chrNW_004955413:33,119,218...33,142,149 		JBrowse link
G Mov10l1 Mov10 like RNA helicase 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,142,857...33,208,897
Ensembl chrNW_004955413:33,142,918...33,208,329 		JBrowse link
G Mpped1 metallophosphoesterase domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:28,486,545...28,558,877
Ensembl chrNW_004955413:28,486,518...28,560,811 		JBrowse link
G Ncaph2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,492,348...33,503,804 JBrowse link
G Nup50 nucleoporin 50 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:29,595,498...29,615,167 JBrowse link
G Panx2 pannexin 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,220,145...33,224,241
Ensembl chrNW_004955413:33,220,140...33,224,344 		JBrowse link
G Parvb parvin beta ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:28,962,614...29,020,430
Ensembl chrNW_004955413:28,961,804...29,020,430 		JBrowse link
G Parvg parvin gamma ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:29,028,573...29,046,745
Ensembl chrNW_004955413:29,028,461...29,047,288 		JBrowse link
G Phf21b PHD finger protein 21B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:29,442,357...29,507,060
Ensembl chrNW_004955413:29,442,357...29,507,060 		JBrowse link
G Pim3 Pim-3 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,068,033...33,071,344 JBrowse link
G Pkdrej polycystin family receptor for egg jelly ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:30,377,627...30,384,749
Ensembl chrNW_004955413:30,378,603...30,384,681 		JBrowse link
G Plxnb2 plexin B2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,297,617...33,314,371
Ensembl chrNW_004955413:33,298,317...33,309,961 		JBrowse link
G Pnpla3 patatin like domain 3, 1-acylglycerol-3-phosphate O-acyltransferase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:28,879,646...28,896,224
Ensembl chrNW_004955413:28,879,748...28,893,938 		JBrowse link
G Pnpla5 patatin like domain 5, triacylglycerol lipase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:28,825,673...28,835,476
Ensembl chrNW_004955413:28,825,319...28,835,751 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:30,306,563...30,366,245
Ensembl chrNW_004955413:30,307,219...30,359,500 		JBrowse link
G Ppp6r2 protein phosphatase 6 regulatory subunit 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,362,879...33,425,361
Ensembl chrNW_004955413:33,385,084...33,425,226 		JBrowse link
G Prr34 PRR34 long non-coding RNA ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:30,237,791...30,247,142 JBrowse link
G Prr5 proline rich 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:29,360,125...29,379,196
Ensembl chrNW_004955413:29,348,303...29,379,659 		JBrowse link
G Rabl2b RAB, member of RAS oncogene family like 2B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,738,999...33,756,374 JBrowse link
G Ribc2 RIB43A domain with coiled-coils 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:29,765,119...29,781,206
Ensembl chrNW_004955413:29,764,684...29,783,711 		JBrowse link
G Rtl6 retrotransposon Gag like 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:29,238,719...29,244,112
Ensembl chrNW_004955413:29,242,588...29,243,307 		JBrowse link
G Samm50 SAMM50 sorting and assembly machinery component ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:28,901,124...28,925,093
Ensembl chrNW_004955413:28,901,124...28,925,093 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,427,283...33,450,581
Ensembl chrNW_004955413:33,427,214...33,452,415 		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_004955413:28,339,212...28,461,626
Ensembl chrNW_004955413:28,338,254...28,461,626 		JBrowse link
G Selenoo selenoprotein O ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,235,382...33,253,484
Ensembl chrNW_004955413:33,245,456...33,256,387 		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_004955413:33,660,025...33,714,649
Ensembl chrNW_004955413:33,660,022...33,712,796 		JBrowse link
G Shisal1 shisa like 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:29,084,441...29,185,524
Ensembl chrNW_004955413:29,084,441...29,139,804 		JBrowse link
G Smc1b structural maintenance of chromosomes 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:29,709,473...29,765,043
Ensembl chrNW_004955413:29,709,473...29,765,043 		JBrowse link
G Sult4a1 sulfotransferase family 4A member 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:28,800,537...28,821,082
Ensembl chrNW_004955413:28,797,645...28,821,088 		JBrowse link
G Syce3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,537,646...33,573,787
Ensembl chrNW_004955413:33,537,753...33,563,373 		JBrowse link
G Tafa5 TAFA chemokine like family member 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:32,094,438...32,200,276
Ensembl chrNW_004955413:32,094,438...32,200,329 		JBrowse link
G Tbc1d22a TBC1 domain family member 22A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:30,710,432...31,025,784
Ensembl chrNW_004955413:30,709,724...31,026,238 		JBrowse link
G Tcf20 transcription factor 20 ISO OMIM:606232 MouseDO NCBI chrNW_004955413:27,677,377...27,726,990
Ensembl chrNW_004955413:27,674,787...27,745,528 		JBrowse link
G Trabd TraB domain containing ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,229,796...33,233,686
Ensembl chrNW_004955413:33,221,807...33,237,274 		JBrowse link
G Trmu tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:30,440,014...30,453,860
Ensembl chrNW_004955413:30,440,282...30,453,860 		JBrowse link
G Tspo translocator protein ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:28,309,105...28,315,075
Ensembl chrNW_004955413:28,308,658...28,315,075 		JBrowse link
G Ttc38 tetratricopeptide repeat domain 38 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:30,391,385...30,411,210
Ensembl chrNW_004955413:30,390,722...30,413,955 		JBrowse link
G Ttll1 TTL family tubulin polyglutamylase complex subunit L1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:28,234,964...28,250,899
Ensembl chrNW_004955413:28,234,486...28,250,688 		JBrowse link
G Ttll12 tubulin tyrosine ligase like 12 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:28,316,936...28,333,423
Ensembl chrNW_004955413:28,316,936...28,333,508 		JBrowse link
G Ttll8 tubulin tyrosine ligase like 8 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,086,528...33,119,801
Ensembl chrNW_004955413:33,088,932...33,119,031 		JBrowse link
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,252,418...33,272,593
Ensembl chrNW_004955413:33,253,524...33,272,215 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748 		JBrowse link
G Upk3a uroplakin 3A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:29,673,160...29,679,604
Ensembl chrNW_004955413:29,672,970...29,682,245 		JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:30,146,185...30,185,693
Ensembl chrNW_004955413:30,144,869...30,181,791 		JBrowse link
G Zbed4 zinc finger BED-type containing 4 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chrNW_004955413:33,007,750...33,021,180
Ensembl chrNW_004955413:33,007,750...33,021,180 		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_004955422:28,662,392...28,721,896
Ensembl chrNW_004955422:28,664,282...28,721,896 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chrNW_004955412:19,586,435...19,670,149
Ensembl chrNW_004955412:19,586,141...19,665,527 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067 		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_004955413:27,027,341...27,065,227
Ensembl chrNW_004955413:27,027,341...27,065,227 		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_004955442:13,310,289...13,433,816
Ensembl chrNW_004955442:13,310,289...13,434,971 		JBrowse link
G Adsl adenylosuccinate lyase ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527 		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_004955442:12,476,055...12,487,613 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_004955442:12,752,468...12,775,081
Ensembl chrNW_004955442:12,752,008...12,775,081 		JBrowse link
G Atf4 activating transcription factor 4 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955413:25,406,589...25,408,727
Ensembl chrNW_004955413:25,406,589...25,412,218 		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_004955413:25,440,533...25,538,367
Ensembl chrNW_004955413:25,453,703...25,535,530 		JBrowse link
G Cbx7 chromobox 7 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955413:25,079,627...25,100,039
Ensembl chrNW_004955413:25,086,186...25,100,039 		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_004955442:12,895,403...12,913,517
Ensembl chrNW_004955442:12,895,702...12,913,517 		JBrowse link
G Chadl chondroadherin like ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955413:26,846,714...26,862,082
Ensembl chrNW_004955413:26,851,420...26,862,081 		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_004955442:13,843,952...13,890,082
Ensembl chrNW_004955442:13,842,784...13,885,860 		JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chrNW_004955442:13,010,032...13,084,897
Ensembl chrNW_004955442:13,009,977...13,084,355 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: RUBINSTEIN SYNDROME | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004 		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_004955442:12,496,862...12,507,655
Ensembl chrNW_004955442:12,496,527...12,508,802 		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_004955442:13,890,284...13,892,362 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_004955442:12,834,662...12,879,308
Ensembl chrNW_004955442:12,839,570...12,879,144 		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_004955442:12,738,888...12,752,306 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_004955442:12,971,031...13,002,605
Ensembl chrNW_004955442:12,967,438...13,010,943 		JBrowse link
G Dnajb7 DnaJ heat shock protein family (Hsp40) member B7 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chrNW_004955413:26,510,844...26,512,855
Ensembl chrNW_004955413:26,511,834...26,512,849 		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_004955442:13,733,107...13,736,527 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_004955442:12,467,077...12,475,902 JBrowse link
G Enthd1 ENTH domain containing 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955413:25,580,200...25,684,390
Ensembl chrNW_004955413:25,579,604...25,684,410 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: RUBINSTEIN-TAYBI SYNDROME 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 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:9536098 PMID:10700188 PMID:15706485 PMID:16199547 PMID:17299436 More... NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933 		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_004955413:25,775,107...25,807,592
Ensembl chrNW_004955413:25,775,107...25,807,625 		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_004955442:13,097,636...13,113,514
Ensembl chrNW_004955442:13,097,636...13,105,210 		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_004955442:12,654,805...12,694,090
Ensembl chrNW_004955442:12,654,805...12,694,090 		JBrowse link
G Grap2 GRB2 related adaptor protein 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955413:25,691,824...25,758,461
Ensembl chrNW_004955413:25,691,439...25,758,813 		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_004955442:12,913,983...12,947,412
Ensembl chrNW_004955442:12,913,983...12,920,152 		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_004955413:26,831,065...26,847,638
Ensembl chrNW_004955413:26,831,066...26,851,859 		JBrowse link
G LOC102028688 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_004955442:14,000,372...14,005,737
Ensembl chrNW_004955442:14,000,372...14,001,310 		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_004955413:26,343,771...26,347,374
Ensembl chrNW_004955413:26,343,759...26,347,520 		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_004955442:14,068,436...14,093,889
Ensembl chrNW_004955442:14,068,348...14,094,016 		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_004955413:25,346,135...25,367,782
Ensembl chrNW_004955413:25,360,806...25,367,782 		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_004955442:12,780,795...12,823,716
Ensembl chrNW_004955442:12,781,539...12,824,222 		JBrowse link
G Mief1 mitochondrial elongation factor 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955413:25,387,399...25,401,484
Ensembl chrNW_004955413:25,387,399...25,401,484 		JBrowse link
G Mrtfa myocardin related transcription factor A ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955413:26,139,060...26,311,272
Ensembl chrNW_004955413:26,139,843...26,222,580 		JBrowse link
G Naa60 N-alpha-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chrNW_004955442:13,895,248...13,926,152
Ensembl chrNW_004955442:13,895,248...13,918,723 		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_004955442:12,513,993...12,520,604
Ensembl chrNW_004955442:12,513,643...12,520,713 		JBrowse link
G Nlrc3 NLR family CARD domain containing 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chrNW_004955442:13,795,322...13,834,362
Ensembl chrNW_004955442:13,814,434...13,833,222 		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_004955442:12,960,559...12,967,186
Ensembl chrNW_004955442:12,959,931...12,967,282 		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_004955442:12,761,962...12,777,549
Ensembl chrNW_004955442:12,775,630...12,777,549 		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_004955442:13,087,082...13,097,048
Ensembl chrNW_004955442:13,087,092...13,097,048 		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_004955415:14,722,951...14,752,493
Ensembl chrNW_004955415:14,723,087...14,751,423 		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_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987 		JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955413:27,018,730...27,026,937 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_004955442:12,581,918...12,627,407
Ensembl chrNW_004955442:12,581,879...12,626,516 		JBrowse link
G Rangap1 Ran GTPase activating protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955413:26,869,487...26,894,192
Ensembl chrNW_004955413:26,867,812...26,890,284 		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_004955413:26,579,759...26,592,980
Ensembl chrNW_004955413:26,579,759...26,592,980 		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_004955442:12,694,197...12,700,181
Ensembl chrNW_004955442:12,694,197...12,700,181 		JBrowse link
G Rpl3 ribosomal protein L3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955413:25,217,777...25,224,052
Ensembl chrNW_004955413:25,217,777...25,224,052 		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_004955413:25,412,621...25,415,924
Ensembl chrNW_004955413:25,412,341...25,416,086 		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_004955442:12,527,999...12,567,626
Ensembl chrNW_004955442:12,528,767...12,566,608 		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_004955442:12,704,546...12,717,905
Ensembl chrNW_004955442:12,705,034...12,719,140 		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_004955413:26,094,170...26,139,062
Ensembl chrNW_004955413:26,094,146...26,142,219 		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_004955413:26,423,805...26,474,158
Ensembl chrNW_004955413:26,421,834...26,474,199 		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_004955442:13,765,660...13,792,106
Ensembl chrNW_004955442:13,770,340...13,791,314 		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_004955442:12,700,461...12,701,283
Ensembl chrNW_004955442:12,700,461...12,701,283 		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_004955442:13,200,237...13,242,816
Ensembl chrNW_004955442:13,200,440...13,238,227 		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_004955413:26,478,579...26,507,671
Ensembl chrNW_004955413:26,476,469...26,507,671 		JBrowse link
G Syngr1 synaptogyrin 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955413:25,244,679...25,269,725
Ensembl chrNW_004955413:25,244,647...25,269,725 		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_004955413:25,290,733...25,315,267
Ensembl chrNW_004955413:25,290,828...25,313,969 		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_004955413:26,956,285...26,978,734
Ensembl chrNW_004955413:26,956,285...26,979,045 		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 Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More... NCBI chrNW_004955442:13,160,467...13,174,288
Ensembl chrNW_004955442:13,160,450...13,175,057 		JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955413:25,820,428...26,060,681
Ensembl chrNW_004955413:25,886,077...26,048,546 		JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955413:26,999,955...27,010,091
Ensembl chrNW_004955413:26,999,955...27,010,156 		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_004955442:13,697,471...13,733,161
Ensembl chrNW_004955442:13,696,810...13,733,161 		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_004955442:12,828,567...12,834,355
Ensembl chrNW_004955442:12,828,567...12,834,355 		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_004955442:12,627,530...12,654,159
Ensembl chrNW_004955442:12,627,530...12,654,159 		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_004955442:13,060,923...13,071,303
Ensembl chrNW_004955442:13,060,923...13,071,303 		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_004955413:26,507,860...26,564,105
Ensembl chrNW_004955413:26,507,860...26,566,826 		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_004955413:26,907,883...26,951,352
Ensembl chrNW_004955413:26,925,943...26,951,040 		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_004955442:13,966,438...13,977,583
Ensembl chrNW_004955442:13,966,877...13,976,452 		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_004955442:14,053,845...14,061,497
Ensembl chrNW_004955442:14,053,851...14,061,497 		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_004955442:13,926,675...13,933,490
Ensembl chrNW_004955442:13,926,440...13,935,055 		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_004955442:14,033,491...14,045,086 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_004955403:3,610,938...3,637,893
Ensembl chrNW_004955403:3,610,913...3,641,340 		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_004955403:1,663,676...1,811,088
Ensembl chrNW_004955403:1,663,676...1,811,109 		JBrowse link
Smith-Magenis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:25741868 PMID:27799067 NCBI chrNW_004955565:879,560...1,242,727
Ensembl chrNW_004955565:879,830...1,237,692 		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_004955415:32,667,832...32,682,945
Ensembl chrNW_004955415:32,668,066...32,682,571 		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_004955434:10,431,434...10,533,118
Ensembl chrNW_004955434:10,431,983...10,533,002 		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_004955514:3,987,231...4,088,762
Ensembl chrNW_004955514:3,986,975...4,106,129 		JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 PMID:28492532 NCBI chrNW_004955475:243,666...278,064
Ensembl chrNW_004955475:243,666...278,627 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067 		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_004955495:4,695,239...4,718,380
Ensembl chrNW_004955495:4,695,768...4,722,098 		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_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288 		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_004955577:185,404...296,613
Ensembl chrNW_004955577:183,051...200,139 		JBrowse link
G Sms spermine synthase ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25741868 NCBI chrNW_004955509:2,277,501...2,328,612
Ensembl chrNW_004955509:2,276,878...2,329,620 		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_004955577:171,425...183,669
Ensembl chrNW_004955577:171,425...186,046 		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_004955470:3,809,835...3,822,442
Ensembl chrNW_004955470:3,808,455...3,822,497 		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_004955577:93,877...153,381
Ensembl chrNW_004955577:93,480...153,437 		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_004955440:10,755,658...10,881,044
Ensembl chrNW_004955440:10,756,014...10,795,491 		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_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337 		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_004955568:744,453...764,402
Ensembl chrNW_004955568:744,836...764,331 		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_004955568:130,062...134,841
Ensembl chrNW_004955568:131,259...134,841 		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_004955568:204,422...222,065
Ensembl chrNW_004955568:204,482...222,258 		JBrowse link
G Bcl9 BCL9 transcription coactivator ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chrNW_004955568:785,361...866,986
Ensembl chrNW_004955568:783,692...811,600 		JBrowse link
G Cd160 CD160 molecule ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chrNW_004955568:365,700...372,149 JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chrNW_004955568:1,132,594...1,189,176
Ensembl chrNW_004955568:1,132,857...1,189,024 		JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chrNW_004955568:1,225,136...1,247,352
Ensembl chrNW_004955568:1,224,843...1,250,729 		JBrowse link
G Gja5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chrNW_004955568:635,319...652,692
Ensembl chrNW_004955568:635,042...653,349 		JBrowse link
G Gja8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chrNW_004955568:514,905...516,551
Ensembl chrNW_004955568:515,113...516,435 		JBrowse link
G Gpr89a G protein-coupled receptor 89A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chrNW_004955568:436,817...493,188 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_004955568:80,386...84,707
Ensembl chrNW_004955568:80,444...84,834 		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_004955568:184,399...201,329
Ensembl chrNW_004955568:184,463...199,777 		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_004955568:136,482...158,531
Ensembl chrNW_004955568:136,589...157,991 		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_004955568:236,943...240,273
Ensembl chrNW_004955568:236,943...240,271 		JBrowse link
G Pdzk1 PDZ domain containing 1 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chrNW_004955568:405,697...436,346
Ensembl chrNW_004955568:386,904...436,346 		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_004955568:174,770...183,078
Ensembl chrNW_004955568:174,770...183,624 		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_004955568:227,603...237,396
Ensembl chrNW_004955568:227,476...237,396 		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_004955568:242,834...263,053
Ensembl chrNW_004955568:243,073...261,418 		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_004955568:120,475...129,990
Ensembl chrNW_004955568:120,475...129,990 		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_004955568:1,253,331...1,279,761
Ensembl chrNW_004955568:1,252,736...1,279,761 		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_004955568:164,050...166,162
Ensembl chrNW_004955568:164,050...166,162 		JBrowse link
G Rnf115 ring finger protein 115 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chrNW_004955568:263,302...349,192
Ensembl chrNW_004955568:263,302...349,192 		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_004955568:103,801...107,791
Ensembl chrNW_004955568:103,762...107,785 		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_004955442:19,334,217...19,346,438
Ensembl chrNW_004955442:19,333,591...19,346,438 		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_004955442:18,109,421...18,149,969
Ensembl chrNW_004955442:18,109,439...18,127,971 		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_004955442:17,962,249...17,965,261 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_004955442:18,513,398...18,548,317
Ensembl chrNW_004955442:18,514,731...18,547,805 		JBrowse link
G Chrd chordin ISO OMIM:192430 MouseDO NCBI chrNW_004955420:23,111,690...23,120,038
Ensembl chrNW_004955420:23,112,093...23,120,036 		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_004955442:18,509,501...18,511,267
Ensembl chrNW_004955442:18,509,676...18,510,332 		JBrowse link
G Cltcl1 clathrin heavy chain like 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004955442:18,688,019...18,803,458
Ensembl chrNW_004955442:18,687,746...18,804,104 		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_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412 		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_004955442:19,358,202...19,388,552
Ensembl chrNW_004955442:19,358,081...19,388,815 		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_004955442:18,570,867...18,575,809
Ensembl chrNW_004955442:18,570,867...18,576,076 		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_004955442:18,857,222...18,938,552
Ensembl chrNW_004955442:18,857,222...18,938,680 		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_004955442:17,810,570...17,815,905 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_004955442:17,998,565...18,034,247
Ensembl chrNW_004955442:17,998,565...18,030,831 		JBrowse link
G Ednra endothelin receptor type A ISO OMIM:192430 MouseDO NCBI chrNW_004955428:3,062,303...3,114,761
Ensembl chrNW_004955428:3,062,303...3,114,761 		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_004955442:18,829,037...18,840,542
Ensembl chrNW_004955442:18,828,976...18,840,542 		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_004955442:18,224,081...18,281,558 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_004955442:18,359,664...18,360,979
Ensembl chrNW_004955442:18,359,664...18,360,979 		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_004955442:18,824,187...18,825,760
Ensembl chrNW_004955442:18,823,495...18,825,760 		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_004955442:19,010,971...19,051,300
Ensembl chrNW_004955442:19,009,155...19,051,393 		JBrowse link
G LOC102009660 protein HIRA ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004955442:18,581,370...18,673,590
Ensembl chrNW_004955442:18,581,370...18,673,761 		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_004955442:19,272,350...19,296,090
Ensembl chrNW_004955442:19,272,433...19,287,527 		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_004955442:19,315,427...19,333,361
Ensembl chrNW_004955442:19,315,427...19,333,522 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO OMIM:192430 MouseDO NCBI chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020 		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_004955442:19,112,269...19,179,742
Ensembl chrNW_004955442:19,112,270...19,179,742 		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_004955442:18,578,107...18,580,517
Ensembl chrNW_004955442:18,577,952...18,580,517 		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_004955442:19,263,544...19,272,231
Ensembl chrNW_004955442:19,264,790...19,271,537 		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_004955442:19,446,955...19,594,790
Ensembl chrNW_004955442:19,446,955...19,598,725 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO OMIM:192430 MouseDO NCBI chrNW_004955500:1,897,899...1,990,791
Ensembl chrNW_004955500:1,897,912...1,990,875 		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_004955442:17,985,456...17,992,945
Ensembl chrNW_004955442:17,985,544...17,992,759 		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_004955442:17,866,508...17,891,803
Ensembl chrNW_004955442:17,866,398...17,891,820 		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_004955442:18,995,253...19,006,499
Ensembl chrNW_004955442:18,996,070...19,001,624 		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_004955442:18,361,072...18,369,648
Ensembl chrNW_004955442:18,359,609...18,369,648 		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_004955442:19,525,411...19,537,986
Ensembl chrNW_004955442:19,525,411...19,538,384 		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_004955442:18,804,319...18,807,353
Ensembl chrNW_004955442:18,804,319...18,808,900 		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_004955442:19,258,901...19,263,317
Ensembl chrNW_004955442:19,258,796...19,263,317 		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_004955442:19,419,381...19,446,782
Ensembl chrNW_004955442:19,419,821...19,446,665 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004955442:18,036,477...18,074,036
Ensembl chrNW_004955442:18,036,477...18,074,213 		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_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337 		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_004955442:19,311,307...19,313,779
Ensembl chrNW_004955442:19,311,574...19,313,779 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO OMIM:192430 MouseDO NCBI chrNW_004955407:41,271,526...41,347,850
Ensembl chrNW_004955407:41,271,526...41,347,850 		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_004955442:17,993,130...17,997,944
Ensembl chrNW_004955442:17,993,434...17,997,850 		JBrowse link
G Tssk2 testis specific serine kinase 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004955442:18,846,491...18,847,485 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_004955442:18,150,060...18,205,775
Ensembl chrNW_004955442:18,152,152...18,204,327 		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_004955442:18,548,545...18,568,989
Ensembl chrNW_004955442:18,548,545...18,569,366 		JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chrNW_004955442:17,965,186...17,980,854
Ensembl chrNW_004955442:17,965,963...17,980,854 		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_004955442:18,969,061...18,982,193 JBrowse link
WAGR syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955476:9,850,110...10,054,313
Ensembl chrNW_004955476:9,849,365...10,054,583 		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_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		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_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473 		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_004955456:14,019,073...14,021,536
Ensembl chrNW_004955456:14,018,109...14,021,483 		JBrowse link
G Baz1b bromodomain adjacent to zinc finger domain 1B ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,185,091...14,242,391
Ensembl chrNW_004955456:14,185,107...14,240,688 		JBrowse link
G Bcl7b BAF chromatin remodeling complex subunit BCL7B ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,149,484...14,166,753
Ensembl chrNW_004955456:14,148,868...14,167,653 		JBrowse link
G Bud23 BUD23 rRNA methyltransferase and ribosome maturation factor ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,047,409...14,057,483
Ensembl chrNW_004955456:14,047,409...14,057,939 		JBrowse link
G Cldn4 claudin 4 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,961,743...13,965,498
Ensembl chrNW_004955456:13,962,497...13,963,126 		JBrowse link
G Clip2 CAP-Gly domain containing linker protein 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,593,322...13,631,809
Ensembl chrNW_004955456:13,594,336...13,626,012 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO CTD Direct Evidence: marker/mechanism
OMIM:194050		 CTD
MouseDO		 PMID:20952458 NCBI chrNW_004955467:9,691,733...9,715,872
Ensembl chrNW_004955467:9,690,469...9,715,872 		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_004955456:14,057,517...14,058,729
Ensembl chrNW_004955456:14,057,620...14,058,303 		JBrowse link
G Eif4h eukaryotic translation initiation factor 4H ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,699,012...13,710,065
Ensembl chrNW_004955456:13,699,012...13,725,393 		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_004955456:13,788,992...13,818,836 JBrowse link
G Fkbp6 FKBP prolyl isomerase family member 6 (inactive) ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,291,445...14,318,310
Ensembl chrNW_004955456:14,291,260...14,318,310 		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_004955403:50,899,658...50,959,077
Ensembl chrNW_004955403:50,899,523...50,959,071 		JBrowse link
G Fzd9 frizzled class receptor 9 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,245,994...14,247,551
Ensembl chrNW_004955456:14,246,324...14,247,550 		JBrowse link
G Gtf2i general transcription factor IIi ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,371,306...13,461,846
Ensembl chrNW_004955456:13,369,772...13,446,815 		JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,494,644...13,564,826
Ensembl chrNW_004955456:13,492,496...13,564,826 		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_004955456:13,674,190...13,688,611 JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,751,135...13,773,722
Ensembl chrNW_004955456:13,750,889...13,774,021 		JBrowse link
G Lox lysyl oxidase ISO OMIM:194050 MouseDO NCBI chrNW_004955521:178,290...193,926
Ensembl chrNW_004955521:185,792...193,926 		JBrowse link
G Mettl27 methyltransferase like 27 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,955,257...13,959,758
Ensembl chrNW_004955456:13,956,294...13,960,213 		JBrowse link
G Mlxipl MLX interacting protein like ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955456:14,096,530...14,116,687
Ensembl chrNW_004955456:14,096,531...14,117,269 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO DNA:deletion RGD PMID:16532385 RGD:1624399 NCBI chrNW_004955456:13,353,780...13,363,956
Ensembl chrNW_004955456:13,354,011...13,363,891 		JBrowse link
G Nsun5 NOP2/Sun RNA methyltransferase 5 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,331,890...14,336,650
Ensembl chrNW_004955456:14,331,924...14,335,973 		JBrowse link
G Rcc1l RCC1 like ISO RGD PMID:12073013 RGD:1580600 NCBI chrNW_004955456:13,285,753...13,300,244
Ensembl chrNW_004955456:13,286,459...13,300,182 		JBrowse link
G Rfc2 replication factor C subunit 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,659,122...13,671,405
Ensembl chrNW_004955456:13,659,157...13,671,181 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO OMIM:194050 MouseDO NCBI chrNW_004955445:19,213,210...19,227,670
Ensembl chrNW_004955445:19,215,161...19,228,695 		JBrowse link
G Stx1a syntaxin 1A ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,030,233...14,046,456
Ensembl chrNW_004955456:14,030,226...14,046,456 		JBrowse link
G Tbl2 transducin beta like 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,128,847...14,134,314
Ensembl chrNW_004955456:14,128,188...14,134,314 		JBrowse link
G Tmem270 transmembrane protein 270 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,947,773...13,953,965 JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,064,197...14,067,571 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_004955514:359,174...376,916
Ensembl chrNW_004955514:359,174...376,916 		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_004955514:630,168...652,817
Ensembl chrNW_004955514:626,645...652,817 		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_004955514:499,526...509,208
Ensembl chrNW_004955514:497,573...509,811 		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_004955514:1,040,103...1,069,297
Ensembl chrNW_004955514:1,042,307...1,069,114 		JBrowse link
G Msx1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630905 NCBI chrNW_004955514:4,923,552...4,927,471
Ensembl chrNW_004955514:4,923,552...4,927,471 		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_004955514:1,084,522...1,162,624
Ensembl chrNW_004955514:1,069,085...1,162,624 		JBrowse link
G Nuf2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome ClinVar NCBI chrNW_004955462:13,082,874...13,142,709
Ensembl chrNW_004955462:13,082,047...13,142,944 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14333
    Pathological Conditions, Signs and Symptoms 11313
      Pathologic Processes 7193
        Chromosome Aberrations 2576
          Aneuploidy 1817
            Monosomy 1570
              Chromosome 18 Mosaic Monosomy 0
              Chromosome Deletion + 1570
paths to the root