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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:chromosomal deletion syndrome
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Accession:DOID:0060388 term browser browse the term
Definition:A chromosomal disease that has_material_basis_in partial deletion of chromosomes. (DO)
Synonyms:exact_synonym: chromosome deletion syndrome
For additional species annotation, visit the Alliance of Genome Resources.


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16p11.2 Deletion Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,379,060...198,382,982
Ensembl chr 1:198,379,022...198,382,614
JBrowse link
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868, PMID:32238909 NCBI chr 1:197,855,912...197,875,038 JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868, PMID:32238909 NCBI chr 1:197,908,087...197,920,400
Ensembl chr 1:197,908,094...197,919,560
JBrowse link
G Bola2 bolA family member 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,120,104...198,121,158
Ensembl chr 1:198,120,099...198,121,158
JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868, PMID:32238909 NCBI chr 1:197,815,422...197,822,123
Ensembl chr 1:197,815,413...197,821,936
JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,409,186...198,413,497
Ensembl chr 1:198,409,360...198,413,497
JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,123,883...198,128,890
Ensembl chr 1:198,123,884...198,128,857
JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,282,828...198,288,611
Ensembl chr 1:198,284,473...198,288,113
JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,199,032...198,209,178
Ensembl chr 1:198,199,622...198,209,150
JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,298,138...198,301,164
Ensembl chr 1:198,298,138...198,301,161
JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,287,489...198,298,076
Ensembl chr 1:198,287,490...198,298,076
JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,360,627...198,378,935
Ensembl chr 1:198,360,627...198,378,934
JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,461,406...198,476,430
Ensembl chr 1:198,461,169...198,476,476
JBrowse link
G Lat linker for activation of T cells ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868, PMID:32238909 NCBI chr 1:197,765,644...197,770,669
Ensembl chr 1:197,765,644...197,770,669
JBrowse link
G LOC308990 hypothetical protein LOC308990 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,528,569...198,531,585
Ensembl chr 1:198,528,635...198,531,201
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,456,699...198,460,126
Ensembl chr 1:198,456,699...198,460,126
JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,420,813...198,448,612
Ensembl chr 1:198,420,806...198,450,047
JBrowse link
G Nfatc2ip nuclear factor of activated T-cells 2 interacting protein ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868, PMID:32238909 NCBI chr 1:197,785,966...197,800,943
Ensembl chr 1:197,785,968...197,801,634
JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,448,790...198,451,078
Ensembl chr 1:198,449,040...198,450,688
JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,219,012...198,225,775
Ensembl chr 1:198,219,054...198,225,580
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
G Qprt quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,544,262...198,559,556
Ensembl chr 1:198,544,262...198,559,568
JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868, PMID:32238909 NCBI chr 1:197,839,583...197,855,953
Ensembl chr 1:197,839,430...197,856,312
JBrowse link
G RGD1563217 similar to RIKEN cDNA 4930451I11 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,260,711...198,268,056
Ensembl chr 1:198,266,108...198,267,093
JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,383,201...198,403,544
Ensembl chr 1:198,383,201...198,403,544
JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868, PMID:32238909 NCBI chr 1:197,878,839...197,888,223
Ensembl chr 1:197,878,840...197,886,759
JBrowse link
G Slx1b SLX1 homolog B, structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,114,514...198,120,061
Ensembl chr 1:198,112,245...198,120,061
JBrowse link
G Spn sialophorin ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,572,999...198,585,664
Ensembl chr 1:198,572,999...198,577,226
JBrowse link
G Spns1 sphingolipid transporter 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868, PMID:32238909 NCBI chr 1:197,771,196...197,778,506
Ensembl chr 1:197,771,108...197,778,490
JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,301,789...198,354,601
Ensembl chr 1:198,301,938...198,320,075
JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,214,797...198,218,706
Ensembl chr 1:198,214,797...198,218,706
JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,252,208...198,265,840
Ensembl chr 1:198,259,496...198,265,839
JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,322,276...198,360,552
Ensembl chr 1:198,324,857...198,354,466
JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868, PMID:32238909 NCBI chr 1:197,903,582...197,907,189
Ensembl chr 1:197,903,582...197,907,189
JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,210,525...198,213,821
Ensembl chr 1:198,210,525...198,213,816
JBrowse link
G Zg16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,483,800...198,486,157
Ensembl chr 1:198,483,805...198,486,157
JBrowse link
1q24 Deletion Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:74,154,533...74,333,244
Ensembl chr13:74,154,835...74,333,244
JBrowse link
G Acbd6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,196,504...73,334,077
Ensembl chr13:73,196,571...73,334,077
JBrowse link
G Angptl1 angiopoietin-like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:74,456,487...74,463,031
Ensembl chr13:74,410,010...74,474,681
JBrowse link
G Ankrd45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:78,973,578...79,000,356
Ensembl chr13:78,979,321...78,991,997
JBrowse link
G Astn1 astrotactin 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:76,054,965...76,370,674
Ensembl chr13:76,055,410...76,370,674
JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,737,161...82,757,681
Ensembl chr13:82,737,159...82,758,004
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,950,422...74,025,237 JBrowse link
G Blzf1 basic leucine zipper nuclear factor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,592,170...82,607,379
Ensembl chr13:82,592,170...82,607,379
JBrowse link
G Brinp2 BMP/retinoic acid inducible neural specific 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:75,948,679...76,049,363
Ensembl chr13:75,948,679...76,049,363
JBrowse link
G Cacna1e calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:71,899,445...72,534,992
Ensembl chr13:71,906,702...72,367,980
JBrowse link
G Cacybp calcyclin binding protein ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:77,948,771...77,959,089
Ensembl chr13:77,948,771...77,959,110
JBrowse link
G Ccdc181 coiled-coil domain containing 181 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,574,980...82,588,637
Ensembl chr13:82,574,966...82,588,640
JBrowse link
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:78,886,092...78,901,025
Ensembl chr13:78,886,163...78,901,420
JBrowse link
G Cep350 centrosomal protein 350 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,499,715...73,637,707
Ensembl chr13:73,499,229...73,638,073
JBrowse link
G Cop1 COP1, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:76,942,883...77,076,015
Ensembl chr13:76,942,928...77,075,723
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Dhx9 DExH-box helicase 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:70,885,503...70,922,278
Ensembl chr13:70,885,504...70,922,245
JBrowse link
G Dnm3 dynamin 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:79,906,711...80,379,967
Ensembl chr13:79,910,382...80,379,929
JBrowse link
G Eef1aknmt eEF1A lysine and N-terminal methyltransferase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,427,595...80,441,353
Ensembl chr13:80,420,025...80,441,374
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fam163a family with sequence similarity 163, member A ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,741,674...73,820,114
Ensembl chr13:73,741,679...73,819,896
JBrowse link
G Fam20b FAM20B, glycosaminoglycan xylosylkinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:74,280,173...74,333,463
Ensembl chr13:74,280,173...74,331,214
JBrowse link
G Faslg Fas ligand ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fmo1 flavin containing dimethylaniline monoxygenase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,712,885...80,745,095
Ensembl chr13:80,712,882...80,745,347
JBrowse link
G Fmo2 flavin containing dimethylaniline monoxygenase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,752,526...80,775,264
Ensembl chr13:80,755,058...80,775,264
JBrowse link
G Fmo3 flavin containing dimethylaniline monoxygenase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,837,418...80,856,214
Ensembl chr13:80,837,420...80,862,963
JBrowse link
G Fmo4 flavin containing dimethylaniline monoxygenase 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,685,385...80,703,575
Ensembl chr13:80,685,325...80,703,615
JBrowse link
G Gas5 growth arrest specific 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:78,852,523...78,855,844 JBrowse link
G Glul glutamate-ammonia ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
JBrowse link
G Gorab golgin, RAB6-interacting ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:81,682,207...81,698,827
Ensembl chr13:81,682,018...81,698,833
JBrowse link
G Gpr52 G protein-coupled receptor 52 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:78,326,545...78,331,349
Ensembl chr13:78,326,545...78,329,680
JBrowse link
G Ier5 immediate early response 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:72,742,210...72,744,302
Ensembl chr13:72,742,210...72,744,303
JBrowse link
G Kifap3 kinesin-associated protein 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,072,497...82,217,256
Ensembl chr13:82,072,497...82,217,252
JBrowse link
G Klhl20 kelch-like family member 20 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:78,912,361...78,957,226
Ensembl chr13:78,912,361...78,957,212
JBrowse link
G Lamc1 laminin subunit gamma 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:70,656,727...70,783,515
Ensembl chr13:70,658,707...70,783,515
JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:70,566,643...70,632,126
Ensembl chr13:70,566,643...70,626,252
JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
JBrowse link
G LOC100302372 hypothetical protein LOC100302372 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:77,784,516...77,822,333
Ensembl chr13:77,784,808...77,822,333
JBrowse link
G LOC498265 similar to hypothetical protein FLJ10706 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,254,516...82,298,467
Ensembl chr13:82,254,453...82,298,404
JBrowse link
G LOC684709 similar to putative membrane protein Re9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:71,304,452...71,308,203
Ensembl chr13:71,305,548...71,306,456
JBrowse link
G Mettl11b methyltransferase like 11B ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:81,987,877...82,027,781
Ensembl chr13:81,988,926...82,006,005
JBrowse link
G Mettl18 methyltransferase like 18 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,298,534...82,300,763
Ensembl chr13:82,298,534...82,300,657
JBrowse link
G Mir199a2 microRNA 199a-2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,125,487...80,125,596
Ensembl chr13:80,125,487...80,125,596
JBrowse link
G Mir3120 microRNA 3120 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,130,909...80,131,025
Ensembl chr13:80,130,909...80,131,025
JBrowse link
G Mr1 major histocompatibility complex, class I-related ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:72,771,992...72,789,861
Ensembl chr13:72,771,984...72,789,841
JBrowse link
G Mroh9 maestro heat-like repeat family member 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,928,982...80,986,373
Ensembl chr13:80,928,995...80,968,971
JBrowse link
G Mrps14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:77,940,454...77,946,201
Ensembl chr13:77,940,454...77,946,201
JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928
JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
JBrowse link
G Nme7 NME/NM23 family member 7 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,607,844...82,737,383
Ensembl chr13:82,626,685...82,737,343
JBrowse link
G Nmnat2 nicotinamide nucleotide adenylyltransferase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:70,379,346...70,559,311
Ensembl chr13:70,379,346...70,559,458
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:70,938,073...70,981,179
Ensembl chr13:70,938,082...70,980,913
JBrowse link
G Pappa2 pappalysin 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:76,389,150...76,660,248
Ensembl chr13:76,389,150...76,660,245
JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:79,886,832...79,889,305
Ensembl chr13:79,886,832...79,889,304
JBrowse link
G Prdx6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:79,077,567...79,088,113
Ensembl chr13:79,077,033...79,088,127
JBrowse link
G Prrc2c proline-rich coiled-coil 2C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,544,789...80,614,925 JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:81,147,038...81,215,559
Ensembl chr13:81,147,348...81,214,546
JBrowse link
G Qsox1 quiescin sulfhydryl oxidase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,423,396...73,460,890
Ensembl chr13:73,423,397...73,460,935
JBrowse link
G Rabgap1l RAB GTPase activating protein 1-like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:77,975,392...78,609,009
Ensembl chr13:78,011,047...78,609,045
JBrowse link
G Ralgps2 Ral GEF with PH domain and SH3 binding motif 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:74,446,001...74,520,640
Ensembl chr13:74,422,944...74,564,184
JBrowse link
G Rasal2 RAS protein activator like 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:74,770,557...75,059,298
Ensembl chr13:74,771,522...75,059,326
JBrowse link
G Rc3h1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:78,723,028...78,794,663
Ensembl chr13:78,722,763...78,789,266
JBrowse link
G RGD1304622 similar to 6820428L09 protein ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:72,860,313...72,900,020
Ensembl chr13:72,861,090...72,893,187
JBrowse link
G RGD1309106 similar to hypothetical protein ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:79,856,479...79,901,830
Ensembl chr13:79,856,479...79,899,479
JBrowse link
G Rgs16 regulator of G-protein signaling 16 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:71,163,411...71,185,147
Ensembl chr13:71,179,910...71,185,216
JBrowse link
G Rgs8 regulator of G-protein signaling 8 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:71,086,654...71,141,820
Ensembl chr13:71,086,745...71,141,075
JBrowse link
G Rgsl1 regulator of G-protein signaling like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:71,206,268...71,276,799
Ensembl chr13:71,209,560...71,276,497
JBrowse link
G Rnasel ribonuclease L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:71,188,712...71,202,636
Ensembl chr13:71,192,142...71,202,625
JBrowse link
G Scyl3 SCY1 like pseudokinase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,230,938...82,255,640
Ensembl chr13:82,231,030...82,254,318
JBrowse link
G Sec16b SEC16 homolog B, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:75,153,074...75,216,941
Ensembl chr13:75,175,254...75,216,941
JBrowse link
G Sele selectin E ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
JBrowse link
G Sell selectin L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
JBrowse link
G Selp selectin P ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
G Serpinc1 serpin family C member 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Shcbp1l SHC binding and spindle associated 1 like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:70,852,044...70,882,336
Ensembl chr13:70,852,023...70,882,340
JBrowse link
G Slc19a2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,552,586...82,566,586
Ensembl chr13:82,552,550...82,566,586
JBrowse link
G Slc9c2 solute carrier family 9, member C2 (putative) ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:79,000,368...79,073,060
Ensembl chr13:79,000,037...79,079,429
JBrowse link
G Smg7 SMG7 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:70,258,919...70,321,886
Ensembl chr13:70,258,915...70,321,752
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:74,035,258...74,077,759
Ensembl chr13:74,035,080...74,077,783
JBrowse link
G Stx6 syntaxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:72,804,218...72,850,757
Ensembl chr13:72,804,218...72,852,967
JBrowse link
G Suco SUN domain containing ossification factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:79,736,485...79,801,133
Ensembl chr13:79,736,482...79,801,561
JBrowse link
G Tdrd5 tudor domain containing 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,872,637...73,922,640
Ensembl chr13:73,872,621...73,921,969
JBrowse link
G Tex35 testis expressed 35 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:74,729,455...74,740,685
Ensembl chr13:74,729,467...74,740,458
JBrowse link
G Tnfsf18 TNF superfamily member 18 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:79,378,412...79,388,687
Ensembl chr13:79,378,733...79,388,498
JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:79,269,973...79,293,775
Ensembl chr13:79,269,973...79,293,778
JBrowse link
G Tnn tenascin N ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:77,829,384...77,896,831
Ensembl chr13:77,829,382...77,896,697
JBrowse link
G Tnr tenascin R ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:77,602,249...77,678,385
Ensembl chr13:77,485,113...77,678,437
JBrowse link
G Tor1aip1 torsin 1A interacting protein 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,670,649...73,704,668
Ensembl chr13:73,670,141...73,704,678
JBrowse link
G Tor1aip2 torsin 1A interacting protein 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,704,088...73,735,339
Ensembl chr13:73,708,815...73,735,339
Ensembl chr13:73,708,815...73,735,339
JBrowse link
G Tor3a torsin family 3, member A ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:74,246,504...74,277,694
Ensembl chr13:74,252,405...74,276,964
JBrowse link
G Vamp4 vesicle-associated membrane protein 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,460,699...80,483,597
Ensembl chr13:80,460,694...80,483,600
JBrowse link
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:72,918,552...73,056,785
Ensembl chr13:72,918,490...73,056,875
JBrowse link
G Zbtb37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:78,836,491...78,852,224
Ensembl chr13:78,836,587...78,852,182
JBrowse link
G Zfp648 zinc finger protein 648 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:71,652,464...71,659,187
Ensembl chr13:71,656,651...71,658,255
JBrowse link
22q11 Deletion Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12223415 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Six1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
46,XY sex reversal 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by OMIM:616425 ClinVar
OMIM
PMID:567843, PMID:6620326, PMID:22051515, PMID:25604083 NCBI chr10:101,288,528...101,294,030
Ensembl chr10:101,288,489...101,293,379
JBrowse link
46,XY sex reversal 4 term browser
Symbol Object Name 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 GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH 9p24.3 DELETION ClinVar PMID:25741868 NCBI chr 1:243,477,403...243,582,629
Ensembl chr 1:243,477,493...243,582,629
JBrowse link
AMME complex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a6 collagen type IV alpha 6 chain ISO OMIM NCBI chr  X:112,405,647...112,768,337
Ensembl chr  X:112,405,647...112,473,822
JBrowse link
chromosome 10q23 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1a bone morphogenetic protein receptor type 1A ISS OMIM:612242 MouseDO NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
JBrowse link
Chromosome 11p Deletion Syndrome term browser
Symbol Object Name 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 NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514, PMID:12868034, PMID:15086958, PMID:17417613, PMID:18776953, PMID:25741868, PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,612,968...93,622,322
Ensembl chr15:93,612,971...93,622,358
JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,854,007...74,866,096
Ensembl chr16:74,857,562...74,864,816
JBrowse link
G Arl11 ADP-ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,639,985...41,645,685
Ensembl chr15:41,643,541...41,645,685
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,442,217...83,463,737
Ensembl chr15:83,442,144...83,463,717
JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,745,124...39,849,022
Ensembl chr15:39,759,257...39,870,208
JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,958,897...74,963,925
Ensembl chr16:74,958,897...74,963,044
JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,865,094...39,894,122
Ensembl chr15:39,882,210...39,893,979
JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,752,655...74,779,184
Ensembl chr16:74,752,655...74,779,184
JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,634,815...93,644,146 JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:61,923,291...61,947,840
Ensembl chr15:61,923,299...61,947,764
JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,136,096...86,142,672
Ensembl chr15:86,136,096...86,142,672
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,095,003...82,482,272
Ensembl chr15:82,099,159...82,482,009
JBrowse link
G Diaph3 diaphanous-related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,466,330...83,494,107
Ensembl chr15:83,466,428...83,494,423
JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,360,505...45,378,840
Ensembl chr15:45,360,503...45,376,476
JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,668,119...41,691,518
Ensembl chr15:41,668,119...41,691,518
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,711,994...45,780,395
Ensembl chr15:45,712,821...45,780,405
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
JBrowse link
G Fndc3a fibronectin type III domain containing 3a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,378,865...54,582,954
Ensembl chr15:54,381,044...54,528,480
JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,844,050...45,929,996
Ensembl chr15:45,858,608...45,947,030
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,937,880...41,942,205
Ensembl chr15:41,937,880...41,942,205
JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,384,632...87,390,627 JBrowse link
G Klf12 Kruppel-like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:84,316,986...84,748,549
Ensembl chr15:84,324,470...84,748,525
JBrowse link
G Klf5 Kruppel-like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,703,796...83,722,921
Ensembl chr15:83,703,791...83,722,921
JBrowse link
G Klhl1 kelch-like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,270,846...80,714,176
Ensembl chr15:80,271,731...80,713,153
JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,696,356...41,770,112
Ensembl chr15:41,698,281...41,770,112
JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,242,911...86,458,512
Ensembl chr15:86,243,148...86,457,739
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,406,543...55,416,816
Ensembl chr15:55,406,543...55,416,815
JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,405,472...87,450,812
NCBI chr15:93,678,062...93,901,556
Ensembl chr15:87,506,959...93,868,301
JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,429,437...83,442,118
Ensembl chr15:83,431,178...83,442,008
JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:89,407,426...89,458,983
Ensembl chr15:89,407,426...89,458,983
JBrowse link
G Nek3 NIMA-related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,781,371...74,806,567
Ensembl chr16:74,785,281...74,806,149
JBrowse link
G Nek5 NIMA-related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,809,513...74,851,895
Ensembl chr16:74,810,938...74,848,113
JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,417,774...55,456,698
Ensembl chr15:55,419,502...55,456,698
JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:88,632,089...88,670,325
Ensembl chr15:88,631,794...88,670,349
JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:62,384,263...62,429,450
Ensembl chr15:62,406,873...62,429,449
JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:67,555,835...67,647,990
Ensembl chr15:67,555,835...67,645,088
JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:71,772,777...71,779,033
Ensembl chr15:71,772,777...71,779,033
JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:62,196,469...62,201,498
Ensembl chr15:62,197,060...62,200,837
JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:76,787,108...77,738,668
Ensembl chr15:77,733,402...77,736,892
JBrowse link
G Phf11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:38,692,817...39,683,417
Ensembl chr15:38,647,779...38,709,984
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:88,618,255...88,622,712
Ensembl chr15:88,620,470...88,622,413
JBrowse link
G Prr20e proline rich 20E ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 4:121,040,810...121,053,910
Ensembl chr 4:121,046,277...121,052,552
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:89,262,683...89,339,323
Ensembl chr15:89,266,710...89,339,323
JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,622,572...39,665,335
Ensembl chr15:39,638,510...39,669,473
JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,029,388...55,074,728
Ensembl chr15:55,034,033...55,073,437
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,689,190...87,820,731
Ensembl chr15:87,704,340...87,820,779
JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,827,983...45,855,952
Ensembl chr15:45,834,302...45,858,335
JBrowse link
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:38,699,135...39,745,035
Ensembl chr15:39,712,861...39,742,103
Ensembl chr15:39,712,861...39,742,103
JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,862,832...87,906,472
Ensembl chr15:87,886,783...87,906,474
JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,303,382...93,307,420
Ensembl chr15:93,303,382...93,307,420
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:95,507,632...95,514,259
Ensembl chr15:95,507,640...95,514,259
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,871,144...41,890,879
Ensembl chr15:41,870,762...41,890,716
JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,461,695...55,516,954
Ensembl chr15:55,461,695...55,516,952
JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:61,873,158...61,913,983
Ensembl chr15:61,873,056...61,914,072
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:70,732,164...70,864,855
Ensembl chr15:70,790,125...70,859,185
JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704
JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,897,191...41,936,545
Ensembl chr15:41,927,241...41,935,718
JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,153,624...86,198,127
Ensembl chr15:86,153,628...86,198,127
JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,719,642...74,743,921
Ensembl chr16:74,719,553...74,743,927
JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:46,008,613...46,134,319
Ensembl chr15:46,008,613...46,134,064
JBrowse link
chromosome 15q11.2 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp10a ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 NCBI chr 1:115,973,343...116,141,892
Ensembl chr 1:115,975,324...116,141,892
JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25205402, PMID:25741868, PMID:28505103 NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816
JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 NCBI chr 1:112,833,941...112,947,482
Ensembl chr 1:112,833,944...112,947,451
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 NCBI chr 1:112,158,525...112,812,267
Ensembl chr 1:112,158,519...112,811,936
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 NCBI chr 1:114,453,033...114,653,787
Ensembl chr 1:114,453,054...114,653,793
JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 NCBI chr 1:123,015,404...123,019,945
Ensembl chr 1:123,015,746...123,019,522
JBrowse link
G Mkrn3 makorin, ring finger protein, 3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 NCBI chr 1:123,062,049...123,064,763
Ensembl chr 1:123,062,863...123,064,642
JBrowse link
G Ndn necdin, MAGE family member ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 NCBI chr 1:122,981,755...122,983,354
Ensembl chr 1:122,981,755...122,983,351
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
JBrowse link
G Snrpn small nuclear ribonucleoprotein polypeptide N ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 NCBI chr 1:195,074,328...195,096,460
Ensembl chr 1:195,074,330...195,096,460
JBrowse link
G Snurf SNRPN upstream reading frame ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 NCBI chr 1:195,074,328...195,096,694
Ensembl chr 1:195,074,330...195,096,694
JBrowse link
G Ube3a ubiquitin protein ligase E3A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 NCBI chr 1:116,586,901...116,678,161
Ensembl chr 1:116,587,815...116,679,973
JBrowse link
chromosome 15q13.3 microdeletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
JBrowse link
G Fan1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome ClinVar NCBI chr 1:125,182,117...125,209,772
Ensembl chr 1:125,181,838...125,209,727
JBrowse link
G Klf13 Kruppel-like factor 13 ISO ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 1:124,772,596...124,803,363
Ensembl chr 1:124,772,596...124,803,363
JBrowse link
G Mir211 microRNA 211 ISO ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome ClinVar NCBI chr 1:125,042,119...125,042,224
Ensembl chr 1:125,042,119...125,042,224
JBrowse link
G Mtmr10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome ClinVar NCBI chr 1:125,124,743...125,175,857
Ensembl chr 1:125,124,743...125,175,857
JBrowse link
G Otud7a OTU deubiquitinase 7A ISO
ISS
ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome
OMIM:612001
ClinVar
MouseDO
NCBI chr 1:124,311,873...124,655,437
Ensembl chr 1:124,625,985...124,653,820
JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome ClinVar NCBI chr 1:124,983,391...125,101,759
Ensembl chr 1:124,983,452...125,099,573
JBrowse link
chromosome 15q24 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Commd4 COMM domain containing 4 ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar PMID:18755302, PMID:19557438, PMID:21681106 NCBI chr 8:61,833,340...61,836,872
Ensembl chr 8:61,833,326...61,836,945
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar PMID:18755302, PMID:19557438, PMID:21681106 NCBI chr 8:61,532,465...61,567,510
Ensembl chr 8:61,532,465...61,567,510
JBrowse link
G Imp3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar PMID:18755302, PMID:19557438, PMID:21681106 NCBI chr 8:61,607,021...61,607,909
Ensembl chr 8:61,607,015...61,608,457
JBrowse link
G Man2c1 mannosidase, alpha, class 2C, member 1 ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar PMID:18755302, PMID:19557438, PMID:21681106 NCBI chr 8:61,805,697...61,816,800
Ensembl chr 8:61,805,677...61,816,800
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar PMID:18755302, PMID:19557438, PMID:21681106 NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
JBrowse link
G Odf3l1 outer dense fiber of sperm tails 3-like 1 ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar PMID:18755302, PMID:19557438, PMID:21681106 NCBI chr 8:61,516,249...61,542,946
Ensembl chr 8:61,516,268...61,519,507
JBrowse link
G Ptpn9 protein tyrosine phosphatase, non-receptor type 9 ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar PMID:18755302, PMID:19557438, PMID:21681106 NCBI chr 8:61,658,851...61,739,458
Ensembl chr 8:61,659,445...61,739,434
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar
OMIM
PMID:18755302, PMID:19557438, PMID:21681106, PMID:25741868, PMID:27399968, PMID:30267900 NCBI chr 8:61,748,590...61,803,314
Ensembl chr 8:61,762,768...61,803,099
JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar PMID:18755302, PMID:19557438, PMID:21681106 NCBI chr 8:61,614,798...61,654,809
Ensembl chr 8:61,615,650...61,648,390
JBrowse link
G Snx33 sorting nexin 33 ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar PMID:18755302, PMID:19557438, PMID:21681106 NCBI chr 8:61,584,656...61,596,055
Ensembl chr 8:61,584,656...61,595,032
JBrowse link
Chromosome 17 Deletion term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544363, PMID:22544367 NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14961032 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD
ClinVar
PMID:17632510, PMID:21681106, PMID:27535533, PMID:28135719, PMID:30665703, PMID:30763456 NCBI chr10:67,531,989...67,551,237 JBrowse link
chromosome 17q12 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aatf apoptosis antagonizing transcription factor ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346, PMID:21055719, PMID:24088041, PMID:26633545 NCBI chr10:71,744,648...71,837,851
Ensembl chr10:71,744,659...71,837,851
JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346, PMID:21055719, PMID:24088041, PMID:26633545 NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041, PMID:26633545 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041, PMID:26633545 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
JBrowse link
G Ddx52 DExD-box helicase 52 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346, PMID:21055719, PMID:24088041, PMID:26633545 NCBI chr10:71,253,667...71,276,397
Ensembl chr10:71,253,598...71,277,277
JBrowse link
G Dhrs11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346, PMID:21055719, PMID:24088041, PMID:26633545 NCBI chr10:72,144,042...72,153,496
Ensembl chr10:72,144,042...72,153,375
JBrowse link
G Dusp14 dual specificity phosphatase 14 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346, PMID:21055719, PMID:24088041, PMID:26633545 NCBI chr10:71,363,688...71,383,602
Ensembl chr10:71,363,688...71,383,602
JBrowse link
G Ggnbp2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346, PMID:21055719, PMID:24088041, PMID:26633545 NCBI chr10:72,156,729...72,188,834
Ensembl chr10:72,156,728...72,188,308
JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346, PMID:21055719, PMID:24088041, PMID:26633545 NCBI chr10:71,159,863...71,218,902
Ensembl chr10:71,159,869...71,218,902
JBrowse link
G Lhx1 LIM homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346, PMID:21055719, PMID:24088041, PMID:26633545 NCBI chr10:71,843,991...71,849,293
Ensembl chr10:71,843,991...71,849,293
JBrowse link
G LOC102552988 uncharacterized LOC102552988 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346, PMID:21055719, PMID:24088041, PMID:26633545 NCBI chr10:71,462,168...71,493,312
Ensembl chr10:71,464,677...71,491,743
JBrowse link
G Mrm1 mitochondrial rRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346, PMID:21055719, PMID:24088041, PMID:26633545 NCBI chr10:72,136,241...72,143,075
Ensembl chr10:72,136,246...72,142,533
JBrowse link
G Mrpl45 mitochondrial ribosomal protein L45 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041, PMID:26633545 NCBI chr10:85,257,876...85,269,806
Ensembl chr10:85,257,876...85,269,806
JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346, PMID:21055719, PMID:24088041, PMID:26633545 NCBI chr10:72,198,475...72,227,892
Ensembl chr10:72,197,977...72,227,462
JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346, PMID:21055719, PMID:24088041, PMID:26633545 NCBI chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437
JBrowse link
G Synrg synergin, gamma ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346, PMID:21055719, PMID:24088041, PMID:26633545 NCBI chr10:71,278,698...71,357,791 JBrowse link
G Tada2a transcriptional adaptor 2A ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346, PMID:21055719, PMID:24088041, PMID:26633545 NCBI chr10:71,393,701...71,441,435
Ensembl chr10:71,393,692...71,441,389
JBrowse link
G Znhit3 zinc finger, HIT-type containing 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346, PMID:21055719, PMID:24088041, PMID:26633545 NCBI chr10:72,227,710...72,235,932
Ensembl chr10:72,228,222...72,235,888
JBrowse link
chromosome 18q deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:76,637,415...76,661,186
Ensembl chr18:76,637,785...76,653,056
JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:77,343,551...77,535,608
Ensembl chr18:77,343,551...77,535,593
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Cbln2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:83,775,568...83,783,841
Ensembl chr18:83,777,665...83,782,930
JBrowse link
G Cd226 CD226 molecule ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:86,299,392...86,394,772
Ensembl chr18:86,299,463...86,394,765
JBrowse link
G Cdh19 cadherin 19 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:32,344,954...32,469,887
Ensembl chr13:32,344,966...32,427,177
JBrowse link
G Cdh20 cadherin 20 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:24,630,298...24,914,463
Ensembl chr13:24,823,488...24,913,884
JBrowse link
G Cdh7 cadherin 7 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:31,081,064...31,228,884
Ensembl chr13:31,081,804...31,231,213
JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:81,466,717...81,512,841
Ensembl chr18:81,466,716...81,499,051
JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:81,521,966...81,539,065
Ensembl chr18:81,521,968...81,539,065
JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203
JBrowse link
G Cyb5a cytochrome b5 type A ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:81,694,818...81,726,821
Ensembl chr18:81,694,808...81,726,821
JBrowse link
G Dipk1c divergent protein kinase domain 1C ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:81,569,693...81,591,683
Ensembl chr18:81,569,910...81,590,887
JBrowse link
G Dok6 docking protein 6 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:86,420,361...86,878,142
Ensembl chr18:86,420,361...86,878,142
JBrowse link
G Dsel dermatan sulfate epimerase-like ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:1,942,384...1,948,563
Ensembl chr13:1,942,499...1,946,508
JBrowse link
G Fbxo15 F-box protein 15 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:81,785,408...81,882,796
Ensembl chr18:81,821,127...81,882,796
JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:79,243,009...79,258,570
Ensembl chr18:79,243,009...79,258,570
JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:76,748,067...76,754,642
Ensembl chr18:76,748,067...76,753,902
JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:76,808,294...76,880,742
Ensembl chr18:76,809,144...76,878,981
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:26,779,386...26,812,271
Ensembl chr13:26,780,633...26,812,215
JBrowse link
G LOC100359752 hypothetical protein LOC100359752 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:81,644,346...81,683,983
Ensembl chr18:81,644,858...81,682,206
JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mc4r melanocortin 4 receptor ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:62,612,838...62,614,725
Ensembl chr18:62,612,838...62,614,725
JBrowse link
G Neto1 neuropilin and tolloid like 1 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:83,471,342...83,585,043
Ensembl chr18:83,471,342...83,584,357
JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:77,203,517...77,322,690
Ensembl chr18:77,203,525...77,322,690
JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:76,559,877...76,627,843
Ensembl chr18:76,559,811...76,628,041
JBrowse link
G Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:26,145,989...26,394,505
Ensembl chr13:26,172,243...26,394,505
JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:25,510,593...25,662,943
Ensembl chr13:25,513,892...25,652,473
JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:76,704,223...76,714,387
Ensembl chr18:76,704,220...76,714,486
JBrowse link
G Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:25,656,983...25,752,792
Ensembl chr13:25,656,983...25,752,792
JBrowse link
G Rnf152 ring finger protein 152 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:25,183,295...25,262,785
Ensembl chr13:25,186,106...25,262,469
JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:86,071,884...86,247,486
Ensembl chr18:86,071,662...86,247,486
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:77,572,200...77,591,710
Ensembl chr18:77,573,702...77,579,969
JBrowse link
G Serpinb10 serpin family B member 10 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:27,466,036...27,483,789
Ensembl chr13:27,465,930...27,483,799
JBrowse link
G Serpinb11 serpin family B member 11 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:27,217,385...27,257,181
Ensembl chr13:27,238,767...27,257,181
JBrowse link
G Serpinb12 serpin family B member 12 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:26,970,824...26,999,709
Ensembl chr13:26,970,660...26,998,357
JBrowse link
G Serpinb13 serpin family B member 13 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:27,032,048...27,062,620
Ensembl chr13:27,032,048...27,062,620
JBrowse link
G Serpinb2 serpin family B member 2 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:27,449,907...27,463,015
Ensembl chr13:27,449,934...27,463,010
JBrowse link
G Serpinb3 serpin family B member 3 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:27,186,701...27,193,211
Ensembl chr13:27,187,130...27,192,592
JBrowse link
G Serpinb3a serpin family B member 3A ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:27,153,500...27,159,319
Ensembl chr13:27,153,925...27,158,628
JBrowse link
G Serpinb5 serpin family B member 5 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:26,903,052...26,923,250
Ensembl chr13:26,903,052...26,923,250
JBrowse link
G Serpinb7 serpin family B member 7 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:27,282,456...27,354,775
Ensembl chr13:27,312,498...27,354,052
JBrowse link
G Serpinb8 serpin family B member 8 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:27,876,662...27,914,038
Ensembl chr13:27,889,345...27,914,006
JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:76,768,466...76,805,773
Ensembl chr18:76,770,012...76,805,766
JBrowse link
G Socs6 suppressor of cytokine signaling 6 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:85,962,729...85,981,125
Ensembl chr18:85,962,729...85,980,833
JBrowse link
G Timm21 translocase of inner mitochondrial membrane 21 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:81,803,165...81,807,627
Ensembl chr18:81,803,173...81,807,627
JBrowse link
G Tmx3 thioredoxin-related transmembrane protein 3 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:87,580,227...87,613,481
Ensembl chr18:87,580,424...87,610,390
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
JBrowse link
G Tshz1 teashirt zinc finger homeobox 1 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:80,860,995...80,907,744
Ensembl chr18:80,862,372...80,865,584
JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:76,725,221...76,740,673
Ensembl chr18:76,725,247...76,740,688
JBrowse link
G Vps4b vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:26,825,261...26,850,460
Ensembl chr13:26,825,261...26,850,460
JBrowse link
G Zadh2 zinc binding alcohol dehydrogenase, domain containing 2 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:80,939,875...80,949,226
Ensembl chr18:80,939,875...80,949,226
JBrowse link
G Zcchc2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:25,961,762...26,052,472
Ensembl chr13:25,966,428...26,013,338
JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:79,447,384...79,543,271
Ensembl chr18:79,451,204...79,543,219
JBrowse link
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:81,057,507...81,453,682
Ensembl chr18:81,057,519...81,428,971
JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:79,768,387...79,857,909
Ensembl chr18:79,773,608...79,854,192
JBrowse link
chromosome 19q13.11 deletion syndrome term browser
Symbol Object Name 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 ClinVar PMID:25741868 NCBI chr 1:90,010,681...90,035,522
Ensembl chr 1:90,011,306...90,035,522
JBrowse link
chromosome 1p36 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,077,290...172,078,690
Ensembl chr 5:172,077,282...172,078,760
JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:171,626,450...171,649,124
Ensembl chr 5:171,624,796...171,648,563
JBrowse link
G Casz1 castor zinc finger 1 ISS OMIM:607872 MouseDO NCBI chr 5:165,625,119...165,777,053
Ensembl chr 5:165,724,027...165,774,616
JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:171,312,790...171,327,581
Ensembl chr 5:171,312,793...171,327,450
JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:171,262,278...171,294,560
Ensembl chr 5:171,262,278...171,294,559
JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,817,221...172,884,996
Ensembl chr 5:172,825,072...172,858,053
JBrowse link
G Dffb DNA fragmentation factor subunit beta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:171,250,559...171,261,875
Ensembl chr 5:171,249,633...171,262,119
JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,648,171...172,655,576
Ensembl chr 5:172,648,950...172,655,576
JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,364,421...172,365,188
Ensembl chr 5:172,364,421...172,365,188
JBrowse link
G Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 ISS OMIM:607872 MouseDO NCBI chr 5:169,570,327...169,658,875
Ensembl chr 5:169,572,517...169,658,875
JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:171,297,850...171,307,682
Ensembl chr 5:171,297,850...171,307,682
JBrowse link
G Megf6 multiple EGF-like-domains 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:171,588,901...171,620,947
Ensembl chr 5:171,472,273...171,620,947
JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,273,450...172,303,905
Ensembl chr 5:172,273,459...172,304,225
JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,489,160...172,547,102
Ensembl chr 5:172,488,708...172,547,058
JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,984,930...173,015,505
Ensembl chr 5:172,986,291...173,015,494
JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,367,593...172,384,077
Ensembl chr 5:172,367,398...172,384,269
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081
JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316
JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,658,071...172,769,492
Ensembl chr 5:172,658,748...172,769,421
JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,304,799...172,307,402
Ensembl chr 5:172,304,758...172,307,431
JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,476,746...172,488,822
Ensembl chr 5:172,476,747...172,488,822
JBrowse link
G RGD1304567 similar to RIKEN cDNA A430005L14 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:171,242,899...171,247,344
Ensembl chr 5:171,242,897...171,247,346
JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899
JBrowse link
G Smim1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:171,306,836...171,312,109
Ensembl chr 5:171,309,335...171,312,026
JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,887,587...172,889,349
Ensembl chr 5:172,887,217...172,889,383
JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,328,259...172,337,221
Ensembl chr 5:172,328,262...172,335,892
JBrowse link
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:171,355,876...171,415,354
Ensembl chr 5:171,355,876...171,415,354
JBrowse link
G Tprg1l tumor protein p63 regulated 1-like ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:171,456,299...171,459,488
Ensembl chr 5:171,456,302...171,459,488
JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:172,253,257...172,271,056
Ensembl chr 5:172,259,520...172,269,213
JBrowse link
G Wrap73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:171,441,471...171,455,795
Ensembl chr 5:171,441,560...171,455,650
JBrowse link
chromosome 1q21.1 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:199,284,177...199,305,793
Ensembl chr 2:199,283,909...199,305,799
JBrowse link
G Bcl9 BCL9, transcription coactivator ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:199,334,644...199,420,083
Ensembl chr 2:199,334,664...199,354,793
JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:199,714,044...199,792,270
Ensembl chr 2:199,716,713...199,771,896
JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:199,796,870...199,823,927
Ensembl chr 2:199,796,881...199,823,927
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: 1q21.1 Deletion
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868, PMID:28492532 NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: 1q21.1 Deletion
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470
JBrowse link
G Gpr89b G protein-coupled receptor 89B ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:198,999,945...199,038,702
Ensembl chr 2:198,999,946...199,038,702
JBrowse link
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:199,831,990...199,847,623
Ensembl chr 2:199,831,990...199,847,629
JBrowse link
chromosome 1q41-q42 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53bp2 tumor protein p53 binding protein, 2 ISS OMIM:612530 MouseDO NCBI chr13:100,817,206...100,873,837
Ensembl chr13:100,817,359...100,873,890
JBrowse link
chromosome 22q11.2 deletion syndrome, distal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,092,794...88,100,220
Ensembl chr11:88,095,170...88,098,252
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:31690835 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mir130b microRNA 130b ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854
JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,147,342...88,169,968
Ensembl chr11:88,147,377...88,169,968
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:31690835 NCBI chr11:88,313,709...88,343,726
Ensembl chr11:88,313,709...88,343,627
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:31690835 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878
JBrowse link
G Rimbp3 RIMS binding protein 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,033,213...88,039,002
Ensembl chr11:88,033,180...88,038,518
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:31690835 NCBI chr11:88,122,271...88,124,513
Ensembl chr11:88,122,271...88,124,513
JBrowse link
G Tmem191c transmembrane protein 191C ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:87,975,508...87,982,861
Ensembl chr11:87,975,527...87,977,368
JBrowse link
G Top3b DNA topoisomerase III beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,346,305...88,374,896
Ensembl chr11:88,346,313...88,374,679
JBrowse link
G Ube2l3 ubiquitin-conjugating enzyme E2L 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,047,186...88,088,477
Ensembl chr11:88,047,832...88,088,476
JBrowse link
G Vpreb1 V-set pre-B cell surrogate light chain 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,376,256...88,377,133
Ensembl chr11:88,376,256...88,377,133
JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,089,142...88,094,254
Ensembl chr11:88,090,921...88,093,516
JBrowse link
G Ypel1 yippee-like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,171,401...88,186,000
Ensembl chr11:88,173,890...88,180,542
JBrowse link
G Zfp280b zinc finger protein 280B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr20:13,566,381...13,581,215
Ensembl chr20:13,567,803...13,581,164
JBrowse link
chromosome 2q37 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19365831 NCBI chr 9:100,660,366...100,767,940
Ensembl chr 9:100,660,394...100,767,940
JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Brachydactyly-Mental Retardation syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:20691407, PMID:23188045, PMID:24715439, PMID:25741868, PMID:28492532 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hdlbp high density lipoprotein binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19365831 NCBI chr 9:100,554,574...100,624,707
Ensembl chr 9:100,554,563...100,624,638
JBrowse link
G Pask PAS domain containing serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19365831 NCBI chr 9:100,450,595...100,479,719
Ensembl chr 9:100,450,586...100,479,868
JBrowse link
chromosome 4q21 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abraxas1 abraxas 1, BRCA1 A complex subunit ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:10,424,674...10,439,010
Ensembl chr14:10,424,674...10,439,003
JBrowse link
G Cds1 CDP-diacylglycerol synthase 1 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:9,396,511...9,456,964
Ensembl chr14:9,396,512...9,456,990
JBrowse link
G Cops4 COP9 signalosome subunit 4 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:10,718,863...10,749,134
Ensembl chr14:10,718,844...10,749,120
JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:10,581,102...10,601,093
Ensembl chr14:10,581,136...10,600,566
JBrowse link
G Enoph1 enolase-phosphatase 1 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:11,172,359...11,198,799
Ensembl chr14:11,172,362...11,198,194
JBrowse link
G Gpat3 glycerol-3-phosphate acyltransferase 3 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:10,343,287...10,396,565
Ensembl chr14:10,343,282...10,395,047
JBrowse link
G Helq helicase, POLQ-like ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:10,446,981...10,491,042
Ensembl chr14:10,446,993...10,491,190
JBrowse link
G Hnrnpd heterogeneous nuclear ribonucleoprotein D ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:11,256,163...11,274,684
Ensembl chr14:11,256,268...11,274,578
JBrowse link
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:11,199,114...11,204,670
Ensembl chr14:11,198,896...11,202,669
JBrowse link
G Hpse heparanase ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:10,534,358...10,576,686
Ensembl chr14:10,534,423...10,575,224
JBrowse link
G Lin54 lin-54 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:10,770,072...10,828,115
Ensembl chr14:10,786,399...10,828,106
JBrowse link
G Mrps18c mitochondrial ribosomal protein S18C ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:10,440,691...10,446,909
Ensembl chr14:10,440,691...10,446,909
JBrowse link
G Nkx6-1 NK6 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:9,555,264...9,562,197
Ensembl chr14:9,555,264...9,562,189
JBrowse link
G Plac8 placenta associated 8 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:10,692,799...10,714,556
Ensembl chr14:10,692,764...10,714,524
JBrowse link
G Sec31a SEC31 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:10,854,713...10,909,579
Ensembl chr14:10,854,682...10,909,612
JBrowse link
G Tmem150c transmembrane protein 150C ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:11,094,655...11,166,323
Ensembl chr14:11,095,163...11,166,428
JBrowse link
Chromosome 5, Trisomy 5q term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,990,072...10,004,339
Ensembl chr17:9,990,078...10,004,321
JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,798,136...9,815,820
Ensembl chr17:9,797,907...9,816,139
JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,830,326...9,834,052
Ensembl chr17:9,830,332...9,839,452
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,834,245...9,837,285
Ensembl chr17:9,834,242...9,837,303
JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,837,259...9,839,464
Ensembl chr17:9,830,332...9,839,452
JBrowse link
chromosome 5q deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf1 Kruppel like factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
G Rps14 ribosomal protein S14 ISO OMIM NCBI chr18:56,042,532...56,047,316
Ensembl chr18:56,044,369...56,047,316
JBrowse link
chromosome 9p deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbwd1 COBW domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:242,819,383...242,861,792
Ensembl chr 1:242,819,390...242,861,767
JBrowse link
G Foxd4 forkhead box D4 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:242,808,886...242,810,186
Ensembl chr 1:242,808,965...242,810,186
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISS OMIM:158170 MouseDO NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
JBrowse link
G Washc1 WASH complex subunit 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 9:113,918,914...113,936,861
Ensembl chr 9:113,918,858...113,936,860
JBrowse link
Cri-du-Chat syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12629597 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
Deafness, with Smith-Magenis Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome ClinVar PMID:11735029, PMID:17546645, PMID:19274735, PMID:24033266, PMID:28492532 NCBI chr10:46,840,098...46,897,362
Ensembl chr10:46,840,113...46,896,054
JBrowse link
DiGeorge syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm3 apoptosis inducing factor, mitochondria associated 3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,364,452...87,380,705
Ensembl chr11:87,366,621...87,380,704
JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO
ISS
OMIM:188400 MouseDO PMID:12563036 RGD:734550 NCBI chr 8:77,640,234...77,719,488
Ensembl chr 8:77,640,222...77,719,489
JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362, PMID:9126485 RGD:1578806 NCBI chr11:86,736,125...86,793,795
Ensembl chr11:86,736,142...86,793,791
JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:14,421,250...14,546,406
Ensembl chr20:14,421,141...14,545,772
JBrowse link
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,092,794...88,100,220
Ensembl chr11:88,095,170...88,098,252
JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,328,785...86,354,099
Ensembl chr11:86,329,012...86,358,453
JBrowse link
G Chrd chordin ISS OMIM:188400 MouseDO NCBI chr11:83,858,503...83,867,543
Ensembl chr11:83,858,503...83,867,203
JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,356,292...86,357,718
Ensembl chr11:86,356,294...86,357,718
JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:8886163, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:16399080, PMID:32581362 NCBI chr11:87,338,606...87,356,644
Ensembl chr11:87,778,312...87,815,043
JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:87,242,441...87,290,806
Ensembl chr11:87,242,522...87,292,955
JBrowse link
G Dgcr6 DiGeorge syndrome critical region gene 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:32581362 NCBI chr11:87,076,205...87,081,306
Ensembl chr11:87,076,381...87,081,950
JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:32581362 NCBI chr11:86,852,682...86,885,233
Ensembl chr11:86,852,711...86,885,224
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISS OMIM:188400 MouseDO NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
JBrowse link
G Dock1 dedicator of cyto-kinesis 1 ISS OMIM:188400 MouseDO NCBI chr 1:206,900,617...207,414,852
Ensembl chr 1:206,900,617...207,414,843
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO RGD PMID:8644734 RGD:1580898 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
JBrowse link
G Ess2 ess-2 splicing factor homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:87,224,371...87,234,329
Ensembl chr11:87,224,421...87,233,326
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16399080 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Foxn1 forkhead box N1 ISS OMIM:188400 MouseDO NCBI chr10:65,621,142...65,634,666
Ensembl chr10:65,621,257...65,634,666
JBrowse link
G Gnaz G protein subunit alpha z ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:14,593,072...14,644,020
Ensembl chr20:14,593,819...14,620,019
JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,575,229...86,655,614
Ensembl chr11:86,577,339...86,655,602
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:87,220,618...87,222,606
Ensembl chr11:87,220,618...87,222,606
JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,988,213...88,016,825
Ensembl chr11:87,988,213...88,016,825
JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,168,196...86,276,430
Ensembl chr11:86,168,196...86,276,430
JBrowse link
G Hoxa3 homeobox A3 ISS OMIM:188400 MouseDO NCBI chr 4:82,137,802...82,181,836
Ensembl chr 4:82,138,683...82,141,385
JBrowse link
G Igll1 immunoglobulin lambda-like polypeptide 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,388,378...88,391,524
Ensembl chr11:88,388,378...88,391,370
JBrowse link
G Kat6a lysine acetyltransferase 6A ISO
ISS
OMIM:188400 MouseDO PMID:22921202 RGD:9590333 NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,646,489...87,718,808
Ensembl chr11:87,677,966...87,718,826
JBrowse link
G LOC102548901 protein Bop-like ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr12:6,230,524...6,231,398 JBrowse link
G LOC498122 similar to CG15908-PA ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,299,210...86,303,453
Ensembl chr11:86,299,210...86,303,453
JBrowse link
G Lztr1 leucine-zipper-like transcription regulator 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,553,868...87,628,631
Ensembl chr11:87,553,868...87,628,502
JBrowse link
G Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 4:153,484,876...153,631,986
Ensembl chr 4:153,484,876...153,593,773
JBrowse link
G Mir130b microRNA 130b ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854
JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,276,616...86,282,452
Ensembl chr11:86,276,616...86,282,451
JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:188400 MouseDO NCBI chr18:55,951,497...56,014,107
Ensembl chr18:55,955,389...55,992,885
JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,434,929...87,445,221
Ensembl chr11:87,435,185...87,445,219
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422
JBrowse link
G Plxnd1 plexin D1 ISS OMIM:188400 MouseDO NCBI chr 4:147,854,309...147,894,170
Ensembl chr 4:147,854,309...147,893,992
JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,147,342...88,169,968
Ensembl chr11:88,147,377...88,169,968
JBrowse link
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent, 1F ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,313,709...88,343,726
Ensembl chr11:88,313,709...88,343,627
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878
JBrowse link
G Prodh1 proline dehydrogenase 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:87,058,478...87,075,785
Ensembl chr11:87,058,616...87,075,785
JBrowse link
G Rab36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:14,557,485...14,573,939
Ensembl chr20:14,557,740...14,573,519
JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:86,890,585...86,898,818
Ensembl chr11:86,890,585...86,898,818
JBrowse link
G Rimbp3 RIMS binding protein 3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,033,213...88,039,002
Ensembl chr11:88,033,180...88,038,518
JBrowse link
G Rsph14 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:14,576,983...14,653,236
Ensembl chr20:14,577,166...14,653,038
JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:86,992,665...87,017,091
Ensembl chr11:86,992,399...87,017,115
JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,722,350...87,733,734
Ensembl chr11:87,722,350...87,733,734
JBrowse link
G Sdf2l1 stromal cell-derived factor 2-like 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,122,271...88,124,513
Ensembl chr11:88,122,271...88,124,513
JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,516,377...86,522,169
Ensembl chr11:86,512,797...86,522,168
JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,913,814...87,924,880
Ensembl chr11:87,913,806...87,924,816
JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:87,204,248...87,207,265
Ensembl chr11:87,204,175...87,207,264
JBrowse link
G Slc7a4 solute carrier family 7, member 4 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,445,585...87,450,008
Ensembl chr11:87,446,382...87,449,940
JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,827,633...87,858,107
Ensembl chr11:87,827,651...87,858,107
JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:86,793,959...86,840,556
Ensembl chr11:86,797,557...86,840,573
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: Catch22
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11748311, PMID:14585638, PMID:15060116, PMID:15190012, PMID:15355425, PMID:16399080, PMID:17000704, PMID:18375573, PMID:19948535, PMID:21921585, PMID:24826987, PMID:24998776, PMID:25205790, PMID:25516202, PMID:25741868, PMID:26467025, PMID:27879657, PMID:28272434, PMID:28492532, PMID:30007050, PMID:32581362 NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISS OMIM:188400 MouseDO NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,399,430...87,403,381
Ensembl chr11:87,399,483...87,403,367
JBrowse link
G Tmem191c transmembrane protein 191C ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,975,508...87,982,861
Ensembl chr11:87,975,527...87,977,368
JBrowse link
G Top3b DNA topoisomerase III beta ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,346,305...88,374,896
Ensembl chr11:88,346,313...88,374,679
JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:86,885,671...86,890,482
Ensembl chr11:86,885,626...86,890,390
JBrowse link
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:87,235,058...87,236,413
Ensembl chr11:87,221,613...87,236,445
JBrowse link
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 4:153,774,511...153,791,223
Ensembl chr 4:153,774,486...153,791,328
JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,667,994...86,716,063
Ensembl chr11:86,667,997...86,716,254
JBrowse link
G Ube2l3 ubiquitin-conjugating enzyme E2L 3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,047,186...88,088,477
Ensembl chr11:88,047,832...88,088,476
JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362, PMID:10024240 RGD:1580803 NCBI chr11:86,304,836...86,328,478
Ensembl chr11:86,304,815...86,328,469
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430
JBrowse link
G Vegfa vascular endothelial growth factor A ISS OMIM:188400 MouseDO NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vpreb1 V-set pre-B cell surrogate light chain 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,376,256...88,377,133
Ensembl chr11:88,376,256...88,377,133
JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,089,142...88,094,254
Ensembl chr11:88,090,921...88,093,516
JBrowse link
G Ypel1 yippee-like 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,171,401...88,186,000
Ensembl chr11:88,173,890...88,180,542
JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:86,903,122...86,917,261
Ensembl chr11:86,903,122...86,915,715
JBrowse link
G Zfp280b zinc finger protein 280B ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:13,566,381...13,581,215
Ensembl chr20:13,567,803...13,581,164
JBrowse link
G Zfp366 zinc finger protein 366 ISS OMIM:188400 MouseDO NCBI chr 2:29,410,169...29,498,661
Ensembl chr 2:29,410,579...29,498,664
JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 1:70,244,828...70,268,289
Ensembl chr 1:70,253,650...70,266,809
JBrowse link
Hao-Fountain Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Chromosome 16p13.2 deletion syndrome ClinVar
OMIM
PMID:26365382, PMID:30679821 NCBI chr10:6,930,462...7,019,910
Ensembl chr10:6,975,244...7,018,930
JBrowse link
hereditary nonpolyposis colorectal cancer type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epcam epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer type 8
ClinVar Annotator: match by OMIM:613244
OMIM
ClinVar
PMID:16951683, PMID:19098912, PMID:25741868, PMID:28492532 NCBI chr 6:11,282,194...11,308,870
Ensembl chr 6:11,281,964...11,298,216
JBrowse link
hypoparathyroidism-deafness-renal disease syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd7 acyl-CoA binding domain containing 7 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,904,549...78,913,372
Ensembl chr17:78,904,873...78,910,671
JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,441,253...69,460,334
Ensembl chr17:69,441,223...69,460,321
JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,388,337...69,435,160
Ensembl chr17:69,388,335...69,404,341
JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,761,126...69,778,021
Ensembl chr17:69,761,118...69,778,021
JBrowse link
G Akr1e2 aldo-keto reductase family 1, member E2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,365,437...69,379,944
Ensembl chr17:69,365,453...69,379,947
JBrowse link
G Ankrd16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,384,883...70,398,089
Ensembl chr17:70,386,707...70,398,769
JBrowse link
G Arl5b ADP-ribosylation factor like GTPase 5B ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:82,065,893...82,092,693
Ensembl chr17:82,065,937...82,091,362
JBrowse link
G Asb13 ankyrin repeat and SOCS box-containing 13 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,215,401...70,234,103
Ensembl chr17:70,215,401...70,234,103
JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,209,321...72,231,562
Ensembl chr17:72,209,373...72,394,271
JBrowse link
G Bend7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,448,430...77,527,888
Ensembl chr17:77,448,430...77,527,894
JBrowse link
G C1ql3 complement C1q like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,314,186...80,320,681
Ensembl chr17:80,314,186...80,320,681
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
JBrowse link
G Calml3 calmodulin-like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,070,458...70,073,697
Ensembl chr17:70,072,156...70,073,530
JBrowse link
G Calml5 calmodulin-like 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,044,956...70,045,886 JBrowse link
G Camk1d calcium/calmodulin-dependent protein kinase ID ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,532,611...76,938,956
Ensembl chr17:76,532,611...76,938,956
JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,991,722...77,093,515
Ensembl chr17:76,995,043...77,093,308
JBrowse link
G Cdc123 cell division cycle 123 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,410,629...76,454,275
Ensembl chr17:76,410,585...76,454,282
JBrowse link
G Cdnf cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,721,230...78,735,324
Ensembl chr17:78,719,111...78,735,324
JBrowse link
G Celf2 CUGBP, Elav-like family member 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:75,259,269...75,660,154
Ensembl chr17:75,352,389...75,654,951
JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243
JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,782,512...78,812,140
Ensembl chr17:78,783,437...78,812,111
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,306,585...76,358,058
Ensembl chr17:76,306,585...76,358,058
JBrowse link
G Echdc3 enoyl CoA hydratase domain containing 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,002,304...76,022,813
Ensembl chr17:76,002,275...76,022,813
JBrowse link
G Fam107b family with sequence similarity 107, member B ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,489,667...78,689,933
Ensembl chr17:78,489,668...78,561,613
JBrowse link
G Fam171a1 family with sequence similarity 171, member A1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:79,030,150...79,149,480
Ensembl chr17:79,031,423...79,085,076
JBrowse link
G Fbh1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,399,093...70,437,151
Ensembl chr17:70,399,049...70,437,144
JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,642,302...77,918,210 JBrowse link
G Gata3 GATA binding protein 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism-deafness-renal disease syndrome
ClinVar Annotator: match by term: Barakat syndrome
ClinVar Annotator: match by OMIM:146255
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:10935639, PMID:11389161, PMID:15705923, PMID:16912130, PMID:17309062, PMID:18621058, PMID:19248180, PMID:19253381, PMID:20006695, PMID:21834031, PMID:23142663, PMID:23435732, PMID:24033266, PMID:24728327, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30143558 NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,299,177...70,325,864
Ensembl chr17:70,299,183...70,325,855
JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:81,173,238...81,196,012
Ensembl chr17:81,173,713...81,187,739
JBrowse link
G Il15ra interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,451,861...70,481,838
Ensembl chr17:70,451,411...70,481,750
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Itga8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:79,321,893...79,676,927
Ensembl chr17:79,321,900...79,676,499
JBrowse link
G Itih2 inter-alpha-trypsin inhibitor heavy chain 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,160,734...72,197,248
Ensembl chr17:72,160,735...72,195,509
JBrowse link
G Kin Kin17 DNA and RNA binding protein ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,198,882...72,216,780
Ensembl chr17:72,198,866...72,209,279
JBrowse link
G Mcm10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,224,218...77,245,486
Ensembl chr17:77,224,112...77,246,478
JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,813,656...78,829,411
Ensembl chr17:78,817,529...78,829,411
JBrowse link
G Mindy3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:79,720,534...79,798,470
Ensembl chr17:79,720,535...79,798,435
JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,991,786...70,020,977
Ensembl chr17:70,010,794...70,020,982
JBrowse link
G Nmt2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,919,235...78,966,013
Ensembl chr17:78,921,793...78,962,476
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
JBrowse link
G Nudt5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,387,027...76,410,309
Ensembl chr17:76,387,031...76,410,294
JBrowse link
G Olah oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,878,673...78,903,919
Ensembl chr17:78,879,058...78,903,967
JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
G Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,632,778...70,713,736
Ensembl chr17:70,684,134...70,713,726
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
G Prkcq protein kinase C, theta ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286
JBrowse link
G Proser2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,079,641...76,140,428
Ensembl chr17:76,079,720...76,137,697
JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,601,914...77,632,507
Ensembl chr17:77,601,877...77,663,980
JBrowse link
G Pter phosphotriesterase related ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,250,444...80,311,987
Ensembl chr17:80,250,521...80,311,981
JBrowse link
G Rbm17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,586,345...70,603,289
Ensembl chr17:70,586,394...70,603,267
JBrowse link
G Rpp38 ribonuclease P/MRP subunit p38 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,915,450...78,919,144
Ensembl chr17:78,915,604...78,919,143
JBrowse link
G Rsu1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,388,477...80,577,338
Ensembl chr17:80,389,157...80,577,027
JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,358,947...76,385,860
Ensembl chr17:76,358,944...76,385,103
JBrowse link
G Sephs1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,312,562...77,340,934
Ensembl chr17:77,312,562...77,340,934
JBrowse link
G Sfmbt2 Scm-like with four mbt domains 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:71,719,012...71,904,303
Ensembl chr17:71,723,620...71,897,972
JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:81,455,731...81,541,742
Ensembl chr17:81,455,955...81,541,759
JBrowse link
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,960,785...81,002,830
Ensembl chr17:80,960,785...81,002,838
JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:81,209,795...81,256,111
Ensembl chr17:81,209,867...81,255,808
JBrowse link
G Suv39h2 suppressor of variegation 3-9 homolog 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,762,897...78,782,016
Ensembl chr17:78,762,991...78,782,016
JBrowse link
G Taf3 TATA-box binding protein associated factor 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,240,785...72,393,448
Ensembl chr17:72,209,373...72,394,271
JBrowse link
G Tasor2 transcription activation suppressor family member 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,245,672...70,299,056
Ensembl chr17:70,262,363...70,297,751
JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,824,652...80,859,585
Ensembl chr17:80,826,846...80,860,195
JBrowse link
G Tubal3 tubulin, alpha-like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,974,272...69,982,957
Ensembl chr17:69,974,272...69,982,957
JBrowse link
G Ucma upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,252,099...77,262,301
Ensembl chr17:77,252,100...77,261,731
JBrowse link
G Ucn3 urocortin 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,959,879...69,966,532
Ensembl chr17:69,960,160...69,966,099
JBrowse link
G Upf2 UPF2, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,176,379...76,287,246
Ensembl chr17:76,175,643...76,287,186
JBrowse link
G Usp6nl USP6 N-terminal like ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:75,759,428...75,887,108
Ensembl chr17:75,761,469...75,886,523
JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
JBrowse link
hypotonia-cystinuria syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,346,645...8,729,773
Ensembl chr 6:8,669,722...8,729,771
JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,219,385...8,280,127
Ensembl chr 6:8,218,696...8,280,124
JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,316,861...8,346,293
Ensembl chr 6:8,318,979...8,346,197
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,284,937...8,318,649
Ensembl chr 6:8,284,878...8,318,674
JBrowse link
Jacobsen Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876
JBrowse link
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,164,991...39,170,568
Ensembl chr 8:39,164,916...39,170,736
JBrowse link
G Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:31,977,001...32,000,378
Ensembl chr 8:31,977,001...32,000,378
JBrowse link
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,017,684...32,037,529
Ensembl chr 8:32,018,560...32,037,531
JBrowse link
G Aplp2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,298,526...32,328,821
Ensembl chr 8:32,298,532...32,328,839
JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,131,874...33,392,198
Ensembl chr 8:33,239,139...33,392,305
JBrowse link
G B3gat1 beta-1,3-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:27,777,024...27,804,368
Ensembl chr 8:27,777,179...27,804,515
JBrowse link
G Barx2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,950,878...33,018,245
Ensembl chr 8:32,950,875...33,017,854
JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,759,077...39,830,235
Ensembl chr 8:39,762,035...39,830,306
JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,181,162...39,201,588
Ensembl chr 8:39,181,163...39,243,882
JBrowse link
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,321,992...36,374,665
Ensembl chr 8:36,321,993...36,374,673
JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,744,686...36,760,720
Ensembl chr 8:36,744,667...36,760,742
JBrowse link
G Ei24 EI24, autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,254,883...39,271,238
Ensembl chr 8:39,254,889...39,266,959
JBrowse link
G Esam endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,997,875...40,008,802
Ensembl chr 8:39,997,875...40,008,809
JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,756,634...33,879,625
Ensembl chr 8:33,816,386...33,879,625
JBrowse link
G Fam118b family with sequence similarity 118, member B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,416,769...36,467,609
Ensembl chr 8:36,416,997...36,467,627
JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,305,128...39,350,270
Ensembl chr 8:39,305,128...39,350,270
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: 11q partial monosomy syndrome
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia
ClinVar PMID:25741868, PMID:28255014, PMID:31064749, PMID:32581362 NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612
JBrowse link
G Glb1l2 galactosidase, beta 1-like 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:27,805,139...27,853,080
Ensembl chr 8:27,807,301...27,852,996
JBrowse link
G Glb1l3 galactosidase, beta 1-like 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:27,865,452...27,907,726
Ensembl chr 8:27,865,350...27,907,911
JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130
JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,763,470...36,772,199
Ensembl chr 8:36,763,481...36,764,422
JBrowse link
G Igsf9b immunoglobulin superfamily, member 9B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,352,497...28,398,659
Ensembl chr 8:28,352,772...28,387,383
JBrowse link
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,147,110...28,208,466
Ensembl chr 8:28,147,111...28,208,466
JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
G Kirrel3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:35,692,525...36,254,755
Ensembl chr 8:36,125,999...36,254,753
JBrowse link
G Msantd2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,959,162...39,994,279
Ensembl chr 8:39,960,542...39,993,630
JBrowse link
G Ncapd3 non-SMC condensin II complex, subunit D3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,075,629...28,145,024
Ensembl chr 8:28,075,551...28,144,741
JBrowse link
G Nfrkb nuclear factor related to kappa B binding protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,530,412...32,561,955
Ensembl chr 8:32,530,412...32,561,955
JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,015,049...40,023,193
Ensembl chr 8:40,015,049...40,023,193
JBrowse link
G Ntm neurotrimin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:30,039,332...31,041,755
Ensembl chr 8:30,039,408...30,222,036
JBrowse link
G Olr1194 olfactory receptor 1194 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,191,902...40,192,831
Ensembl chr 8:40,191,902...40,192,831
JBrowse link
G Olr1196 olfactory receptor 1196 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,258,985...40,259,917
Ensembl chr 8:40,258,985...40,259,917
JBrowse link
G Olr1201 olfactory receptor 1201 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,383,997...40,384,929
Ensembl chr 8:40,383,918...40,384,966
JBrowse link
G Olr1202 olfactory receptor 1202 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,410,700...40,414,063
Ensembl chr 8:40,410,604...40,411,648
JBrowse link
G Olr1235 olfactory receptor 1235 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 4:1,470,716...1,471,657
Ensembl chr 4:1,470,716...1,471,657
JBrowse link
G Opcml opioid binding protein/cell adhesion molecule-like ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,842,202...29,967,300
Ensembl chr 8:29,453,643...29,962,825
JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,126,379...40,137,390
Ensembl chr 8:40,126,342...40,137,390
JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,874,700...36,876,931
Ensembl chr 8:36,874,700...36,876,931
JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,772,362...36,879,228
Ensembl chr 8:36,850,324...36,851,609
JBrowse link
G Pate3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,840,359...36,842,370
Ensembl chr 8:36,840,359...36,842,370
JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,815,007...36,817,747
Ensembl chr 8:36,815,007...36,817,747
JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,361,698...39,551,700
Ensembl chr 8:39,361,218...39,551,700
JBrowse link
G Prdm10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,419,921...32,526,357
Ensembl chr 8:32,452,885...32,526,351
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,760,874...36,769,167
Ensembl chr 8:36,766,977...36,769,162
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,892,792...39,923,735
Ensembl chr 8:39,892,792...39,907,478
JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,082,693...39,093,344
Ensembl chr 8:39,083,327...39,093,277
JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,467,706...36,477,190
Ensembl chr 8:36,467,706...36,477,189
JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,078,269...40,113,514
Ensembl chr 8:40,078,269...40,113,514
JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,708,678...39,735,042
Ensembl chr 8:39,708,638...39,734,594
JBrowse link
G Snx19 sorting nexin 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:31,497,034...31,534,077
Ensembl chr 8:31,497,639...31,534,077
JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,066,954...40,078,131
Ensembl chr 8:40,067,076...40,078,165
JBrowse link
G Spata19 spermatogenesis associated 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,454,938...28,460,645
Ensembl chr 8:28,454,962...28,459,835
JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,410,683...36,416,766
Ensembl chr 8:36,410,683...36,416,296
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,264,741...36,314,811
Ensembl chr 8:36,264,750...36,314,811
JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,204,218...39,243,751
Ensembl chr 8:39,181,163...39,243,882
JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,114,792...40,122,450
Ensembl chr 8:40,114,792...40,122,450
JBrowse link
G Thyn1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,045,093...28,053,974
Ensembl chr 8:28,045,093...28,054,040
JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:36,382,029...36,399,625
Ensembl chr 8:36,385,353...36,388,224
JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:39,687,280...39,702,722
Ensembl chr 8:39,687,269...39,702,902
JBrowse link
G Tmem45b transmembrane protein 45b ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,563,872...32,609,212
Ensembl chr 8:32,563,874...32,609,212
JBrowse link
G Vps26b VPS26 retromer complex component B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:28,054,407...28,075,514
Ensembl chr 8:28,054,407...28,075,514
JBrowse link
G Vsig2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:40,009,691...40,014,734
Ensembl chr 8:40,009,691...40,014,734
JBrowse link
G Zbtb44 zinc finger and BTB domain containing 44 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 8:32,165,388...32,223,341
Ensembl chr 8:32,165,810...32,217,476
JBrowse link
Kleefstra syndrome 1 term browser
Symbol Object Name 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:27891178, PMID:28492532 NCBI chr 3:2,648,787...2,668,770
Ensembl chr 3:2,648,885...2,668,809
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, PMID:27316244, PMID:28492532 NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:27891178, PMID:28492532 NCBI chr 3:4,044,741...4,055,384
Ensembl chr 3:4,044,542...4,055,806
JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:27891178, PMID:28492532 NCBI chr 3:2,799,032...2,806,686
Ensembl chr 3:2,800,650...2,803,574
JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:26833960, PMID:27891178, PMID:28492532 NCBI chr 3:2,490,496...2,502,247
Ensembl chr 3:2,490,518...2,502,248
JBrowse link
G Arrdc1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:26833960, PMID:27891178, PMID:28492532 NCBI chr 3:2,129,876...2,137,161
Ensembl chr 3:2,129,879...2,136,936
JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:27891178, PMID:28492532 NCBI chr 3:2,724,616...2,727,616
Ensembl chr 3:2,724,616...2,727,616
JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:27891178, PMID:28492532 NCBI chr 3:3,373,971...3,434,027
Ensembl chr 3:3,373,971...3,434,027
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:27891178, PMID:28492532 NCBI chr 3:3,798,346...3,806,841
Ensembl chr 3:3,798,347...3,806,713
JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:27891178, PMID:28492532 NCBI chr 3:2,832,893...2,843,050
Ensembl chr 3:2,832,847...2,841,331
JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:27891178, PMID:28492532 NCBI chr 3:2,675,732...2,678,248
Ensembl chr 3:2,676,296...2,680,565
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G Cysrt1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:26833960, PMID:27891178, PMID:28492532 NCBI chr 3:2,458,295...2,462,037
Ensembl chr 3:2,458,295...2,459,385
JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:27891178, PMID:28492532 NCBI chr 3:4,083,797...4,091,550
Ensembl chr 3:4,083,864...4,092,289
JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:27891178, PMID:28492532 NCBI chr 3:3,796,480...3,798,467
Ensembl chr 3:3,796,480...3,798,239
JBrowse link
G Dph7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:26833960, PMID:27891178, PMID:28492532 NCBI chr 3:2,170,193...2,179,101
Ensembl chr 3:2,170,533...2,179,010
JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:27891178, PMID:28492532 NCBI chr 3:2,569,135...2,573,387
Ensembl chr 3:2,569,135...2,573,387
JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:27891178, PMID:28492532 NCBI chr 3:2,781,169...2,785,474
Ensembl chr 3:2,781,169...2,785,474
JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:27891178, PMID:28492532 NCBI chr 3:4,034,759...4,044,280
Ensembl chr 3:4,034,921...4,043,936
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1
ClinVar Annotator: match by term: Chromosome 9q deletion syndrome
ClinVar Annotator: match by term: KLEEFSTRA SYNDROME 1
OMIM
ClinVar
PMID:15805155, PMID:16826528, PMID:18414213, PMID:19264732, PMID:20945554, PMID:22670141, PMID:22726846, PMID:24088041, PMID:24779060, PMID:25326635, PMID:25400900, PMID:25741868, PMID:26633545, PMID:26792009, PMID:26808425, PMID:26833960, PMID:27651234, PMID:27891178, PMID:28057753, PMID:28492532, PMID:29160022, PMID:30311386, PMID:32860008 NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:27891178, PMID:28492532 NCBI chr 3:2,617,795...2,623,818
Ensembl chr 3:2,617,805...2,623,445
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:26833960, PMID:27891178, PMID:28492532 NCBI chr 3:2,286,363...2,299,720
Ensembl chr 3:2,288,667...2,302,782
JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:27891178, PMID:28492532 NCBI chr 3:3,827,498...3,834,219
Ensembl chr 3:3,827,498...3,834,210
JBrowse link
G Fam166a family with sequence similarity 166, member A ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:26833960, PMID:27891178, PMID:28492532 NCBI chr 3:2,434,348...2,441,706
Ensembl chr 3:2,438,089...2,441,706
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:27891178, PMID:28492532 NCBI chr 3:2,726,705...2,731,213
Ensembl chr 3:2,727,254...2,731,212
JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:27891178, PMID:28492532 NCBI chr 3:2,637,281...2,646,497
Ensembl chr 3:2,642,531...2,646,648
JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:27891178, PMID:28492532 NCBI chr 3:3,767,394...3,794,360
Ensembl chr 3:3,767,394...3,794,359
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732, PMID:26833960, PMID:27891178, PMID:28492532 NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
JBrowse link