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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 disease
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Accession:DOID:0080014 term browser browse the term
Definition:Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Synonyms:exact_synonym: Autosomal Chromosome Disorder;   Autosomal Chromosome Disorders;   Chromosomal Disorder;   Chromosomal Disorders;   Chromosome Abnormality Disorder;   Chromosome Abnormality Disorders;   Chromosome Disorder;   Chromosome Disorders
 primary_id: MESH:D025063;   RDO:0000327
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
chromosomal disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pot1 protection of telomeres 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23502782 NCBI chr 4:51,888,632...51,946,764
Ensembl chr 4:51,888,634...51,946,715
JBrowse link
16p11.2 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: 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
16Q24.3 Microdeletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,594,801...55,635,312
Ensembl chr19:55,594,831...55,635,122
JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,703,831...55,862,446
Ensembl chr19:55,703,824...55,737,500
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
JBrowse link
G Banp Btg3 associated nuclear protein ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:54,766,441...54,843,795
Ensembl chr19:54,766,589...54,840,569
JBrowse link
G Ca5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:54,731,829...54,761,697
Ensembl chr19:54,731,859...54,761,670
JBrowse link
G Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,438,409...55,510,652
Ensembl chr19:55,441,572...55,510,460
JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,669,661...55,689,986
Ensembl chr19:55,669,626...55,689,992
JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,381,565...55,386,511
Ensembl chr19:55,381,565...55,386,511
JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,929,555...55,946,251
Ensembl chr19:55,929,609...55,946,250
JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,300,531...55,305,543
Ensembl chr19:55,300,395...55,305,702
JBrowse link
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:53,487,610...53,625,673
Ensembl chr19:53,487,613...53,625,673
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,391,004...55,423,328
Ensembl chr19:55,389,462...55,423,150
JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,246,926...55,248,688
Ensembl chr19:55,246,926...55,248,205
JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:54,553,419...54,613,477
Ensembl chr19:54,553,419...54,613,477
JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:54,651,911...54,652,381
Ensembl chr19:54,651,911...54,652,381
JBrowse link
G LOC687560 hypothetical protein LOC687560 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:53,467,806...53,481,093
Ensembl chr19:53,468,054...53,477,420
JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:53,635,449...53,643,970
Ensembl chr19:53,629,779...53,646,058
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951
JBrowse link
G Pabpn1l poly(A)binding protein nuclear 1-like ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,430,808...55,434,252
Ensembl chr19:55,430,810...55,434,252
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,290,563...55,300,403
Ensembl chr19:55,290,563...55,300,403
JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,917,489...55,920,040
Ensembl chr19:55,917,736...55,919,996
JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:54,693,959...54,722,563
Ensembl chr19:54,693,959...54,722,563
JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,276,211...55,290,031
Ensembl chr19:55,277,549...55,284,663
JBrowse link
G Trappc2l trafficking protein particle complex 2-like ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,423,350...55,428,551
Ensembl chr19:55,423,350...55,427,036
JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,197,348...55,241,800
Ensembl chr19:55,197,704...55,241,851
JBrowse link
G Zcchc14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:53,644,500...53,688,624
Ensembl chr19:53,647,815...53,688,597
JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:21,444,833...21,466,474
Ensembl chr 8:21,448,618...21,458,379
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:54,843,864...55,083,935 JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,094,585...55,150,994
Ensembl chr19:55,094,585...55,150,686
JBrowse link
1q24 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:74,154,533...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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12223415 NCBI chr 1:265,492,949...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 Qualifiers 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: 46,XY 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
acrocephalosyndactylia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:missense mutation: :p.P252R (human) RGD PMID:7874169, PMID:25251565 RGD:11567243, RGD:11567271 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 severity
treatment
ISO ClinVar Annotator: match by term: Acrocephalosyndactyly type I
ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly
ClinVar Annotator: match by term: Apert syndrome
ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia
ClinVar Annotator: match by term: Saethre-Chotzen syndrome
DNA:missense mutation:cds:p.P253R (human)
DNA:missense mutation:cds:p.A172F (human)
DNA:missense mutations:cds:p.S252W, p.P253R (human)
ClinVar Annotator: match by OMIM:101200
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
OMIM
ClinVar
CTD
PMID:7558045, PMID:7607643, PMID:7655462, PMID:7668257, PMID:7719344, PMID:7719345, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8650126, PMID:8651276, PMID:8696350, PMID:8755573, PMID:8946174, PMID:8957519, PMID:9002682, PMID:9150725, PMID:9462761, PMID:9475591, PMID:9502772, PMID:9677057, PMID:9700203, PMID:9719378, PMID:9973282, PMID:10394936, PMID:10851026, PMID:11121055, PMID:11390973, PMID:11781872, PMID:12000365, PMID:12124745, PMID:12145519, PMID:12400058, PMID:12900900, PMID:14499350, PMID:15286168, PMID:15316116, PMID:15389579, PMID:15863034, PMID:15975938, PMID:16158432, PMID:16418739, PMID:16440883, PMID:16531735, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17264867, PMID:17525745, PMID:17694057, PMID:18552176, PMID:18618990, PMID:19186770, PMID:20133659, PMID:20301628, PMID:20489451, PMID:20503384, PMID:20856019, PMID:21367659, PMID:21397175, PMID:22238366, PMID:22558232, PMID:22664175, PMID:23002168, PMID:23431754, PMID:23495007, PMID:23546041, PMID:23786770, PMID:24036790, PMID:24127277, PMID:24489893, PMID:24656465, PMID:24728327, PMID:25157968, PMID:25271085, PMID:25425289, PMID:25706251, PMID:25741868, PMID:25867380, PMID:25937001, PMID:26380986, PMID:26429889, PMID:26467025, PMID:26619011, PMID:27079505, PMID:27683237, PMID:28492532, PMID:30311386, PMID:31145570, PMID:10735635, PMID:23532954, PMID:17694057, PMID:9677057, PMID:7668257 RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413, RGD:8547743 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P
CTD Direct Evidence: marker/mechanism
CTD PMID:15923834, PMID:23354436, PMID:8988166 RGD:1624353 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link
agnathia-otocephaly complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxh1 forkhead box H1 ISS OMIM:202650 MouseDO NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Dysgnathia complex
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:202650
OMIM
ClinVar
CTD
PMID:12244557, PMID:21294718, PMID:22211708, PMID:22674740, PMID:23444262, PMID:25741868 NCBI chr13:81,147,038...81,215,559
Ensembl chr13:81,147,348...81,214,546
JBrowse link
G Trappc10 trafficking protein particle complex 10 ISS OMIM:202650 MouseDO NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625
JBrowse link
AMME complex term browser
Symbol Object Name Qualifiers 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
Angelman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp10a ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:12210318, PMID:18821858, PMID:22190369, PMID:23495136, PMID:24088041, PMID:25099823, PMID:25884337, PMID:26633545, PMID:28492532 NCBI chr 1:115,973,343...116,141,892
Ensembl chr 1:115,975,324...116,141,892
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19241098 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:24088041, PMID:26633545 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: Angelman syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15878204, PMID:24088041, PMID:26633545 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: Angelman syndrome ClinVar PMID:24088041, PMID:25741868, PMID:26633545 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: Angelman syndrome ClinVar PMID:24088041, PMID:26633545 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: Angelman syndrome ClinVar PMID:24088041, PMID:26633545 NCBI chr 1:123,015,404...123,019,945
Ensembl chr 1:123,015,746...123,019,522
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by OMIM:105830
ClinVar Annotator: match by term: Angelman syndrome
ClinVar Annotator: match by term: HAPPY PUPPET SYNDROME
ClinVar PMID:1191367, PMID:8177735, PMID:10508514, PMID:10577905, PMID:10745042, PMID:10767337, PMID:10814718, PMID:10814719, PMID:10852707, PMID:10854091, PMID:10944834, PMID:10944854, PMID:10991688, PMID:10991689, PMID:11022934, PMID:11035019, PMID:11055878, PMID:11055898, PMID:11058114, PMID:11071498, PMID:11214906, PMID:11227330, PMID:11241840, PMID:11245712, PMID:11269512, PMID:11283202, PMID:11309679, PMID:11313756, PMID:11313764, PMID:11376998, PMID:11392517, PMID:11402105, PMID:11462237, PMID:11469283, PMID:11524741, PMID:11738860, PMID:11738864, PMID:11738866, PMID:11738879, PMID:11738883, PMID:11738885, PMID:11746022, PMID:11913567, PMID:11960578, PMID:12065946, PMID:12081725, PMID:12111643, PMID:12180070, PMID:12210319, PMID:12325033, PMID:12418965, PMID:12567420, PMID:12615169, PMID:12655490, PMID:12673788, PMID:12707946, PMID:12746406, PMID:12843318, PMID:12872250, PMID:12966523, PMID:14560307, PMID:14649554, PMID:15057977, PMID:15173251, PMID:15389714, PMID:15526954, PMID:15558314, PMID:15737703, PMID:15866439, PMID:16122633, PMID:16169931, PMID:16183801, PMID:16473305, PMID:16629931, PMID:16672765, PMID:16690727, PMID:16832102, PMID:16905679, PMID:17089071, PMID:17236109, PMID:17267601, PMID:17276711, PMID:17341617, PMID:17351020, PMID:17387578, PMID:17881312, PMID:17986102, PMID:18174548, PMID:18174559, PMID:18332345, PMID:18337588, PMID:18414213, PMID:18499664, PMID:18562141, PMID:18989701, PMID:19133691, PMID:19189931, PMID:19217433, PMID:19309269, PMID:19309283, PMID:19371229, PMID:19442733, PMID:19552836, PMID:19573459, PMID:19652677, PMID:19722030, PMID:19914908, PMID:20031356, PMID:20093853, PMID:20116947, PMID:20231667, PMID:20301670, PMID:20631224, PMID:20661168, PMID:21154482, PMID:21160487, PMID:21372149, PMID:21420494, PMID:21831886, PMID:21954873, PMID:21982064, PMID:22277191, PMID:22368975, PMID:22476991, PMID:22525432, PMID:22561697, PMID:23238081, PMID:23260135, PMID:23262346, PMID:23270700, PMID:23421866, PMID:23770565, PMID:23770587, PMID:23810759, PMID:23921973, PMID:24399845, PMID:24458799, PMID:24511209, PMID:24916645, PMID:24970834, PMID:25167861, PMID:25741868, PMID:26175308, PMID:26418480, PMID:26467025, PMID:26647311, PMID:27354166, PMID:27929079, PMID:28492532, PMID:30311386, PMID:32860008 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Mkrn3 makorin, ring finger protein, 3 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:24088041, PMID:26633545 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: Angelman syndrome ClinVar PMID:24088041, PMID:26633545 NCBI chr 1:122,981,755...122,983,354
Ensembl chr 1:122,981,755...122,983,351
JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 1:114,385,484...114,422,741
Ensembl chr 1:114,386,757...114,422,733
JBrowse link
G Nipa2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 1:114,346,005...114,371,907
Ensembl chr 1:114,348,038...114,371,897
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:24088041, PMID:26633545 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
JBrowse link
G Rnf4 ring finger protein 4 ISO mRNA:increased expression:blood (human) RGD PMID:15014980 RGD:9831454 NCBI chr14:81,658,400...81,679,756
Ensembl chr14:81,660,354...81,679,082
JBrowse link
G Snrpn small nuclear ribonucleoprotein polypeptide N ISO
ISS
ClinVar Annotator: match by term: Angelman syndrome
OMIM:105830
ClinVar
MouseDO
PMID:12210318, PMID:18821858, PMID:22190369, PMID:23495136, PMID:24088041, PMID:25099823, PMID:25884337, PMID:26633545, PMID:28492532 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: Angelman syndrome ClinVar PMID:12210318, PMID:18821858, PMID:22190369, PMID:23495136, PMID:24088041, PMID:25099823, PMID:25884337, PMID:26633545, PMID:28492532 NCBI chr 1:195,074,328...195,096,694
Ensembl chr 1:195,074,330...195,096,694
JBrowse link
G Tubgcp5 tubulin, gamma complex associated protein 5 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 1:114,186,853...114,222,516
Ensembl chr 1:114,186,853...114,222,516
JBrowse link
G Ube3a ubiquitin protein ligase E3A treatment ISO ClinVar Annotator: match by term: Angelman syndrome
ClinVar Annotator: match by term: HAPPY PUPPET SYNDROME
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:105830
ClinVar
CTD
OMIM
PMID:2309781, PMID:8988171, PMID:8988172, PMID:9585605, PMID:9600250, PMID:9792887, PMID:9887341, PMID:11748306, PMID:12210318, PMID:12725589, PMID:15054837, PMID:15150776, PMID:15263005, PMID:15878204, PMID:16470747, PMID:17765640, PMID:17940072, PMID:18414213, PMID:18821858, PMID:19213023, PMID:20034088, PMID:21072004, PMID:22190369, PMID:22670133, PMID:23495136, PMID:24088041, PMID:24796722, PMID:24876791, PMID:25099823, PMID:25212744, PMID:25326635, PMID:25326637, PMID:25741868, PMID:25884337, PMID:26068938, PMID:26219744, PMID:26255772, PMID:26467025, PMID:26633545, PMID:26993267, PMID:27620904, PMID:28281572, PMID:28492532, PMID:29188609, PMID:8988171, PMID:25470045, PMID:25866966 RGD:1358469, RGD:12859274, RGD:12859273 NCBI chr 1:116,586,901...116,678,161
Ensembl chr 1:116,587,815...116,679,973
JBrowse link
autosomal dominant non-syndromic intellectual disability 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 22
ClinVar Annotator: match by OMIM:612337
OMIM
ClinVar
PMID:9568537, PMID:9756912, PMID:10567577, PMID:11179890, PMID:11350943, PMID:11854316, PMID:14681759, PMID:17447250, PMID:17668379, PMID:19409883, PMID:20059953, PMID:20382278, PMID:20672375, PMID:21800092, PMID:21934713, PMID:22095278, PMID:22234186, PMID:22513377, PMID:22678713, PMID:23020937, PMID:23494996, PMID:24193349, PMID:24614070, PMID:25131622, PMID:25741868, PMID:26740508, PMID:27598823, PMID:28283832, PMID:29573576 NCBI chr13:95,582,234...95,593,316
Ensembl chr13:95,589,668...95,591,236
JBrowse link
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar
OMIM
PMID:20602916 NCBI chr 1:241,945,816...242,084,044
Ensembl chr 1:241,945,841...242,083,484
JBrowse link
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects ClinVar PMID:24084572 NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
JBrowse link
Beckwith-Wiedemann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:130650
OMIM
ClinVar
CTD
PMID:8841187, PMID:9311733, PMID:9341892, PMID:10323243, PMID:10424811, PMID:11414765, PMID:18395877, PMID:18414213, PMID:19386358, PMID:19843502, PMID:20503313, PMID:21910219, PMID:22140035, PMID:22634751, PMID:23197429, PMID:24033266, PMID:25427884, PMID:25741868, PMID:25861374, PMID:26061650, PMID:26077438, PMID:27436784, PMID:28492532, PMID:30311386, PMID:30374176 NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:28492532, PMID:30165906 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8252039, PMID:9349812 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome
ClinVar Annotator: match by term: EMG Syndrome
CTD
ClinVar
PMID:10704188, PMID:11530100, PMID:12566525, PMID:14510661, PMID:14678125, PMID:15051636, PMID:15840476, PMID:15935335, PMID:19716085, PMID:19841300, PMID:22378279, PMID:22581653, PMID:22629021, PMID:23174487, PMID:23392653, PMID:24033266, PMID:24055113, PMID:24190995, PMID:24357532, PMID:24606995, PMID:24912595, PMID:25608792, PMID:25637381, PMID:25649125, PMID:25705178, PMID:25741868, PMID:25854863, PMID:26077850, PMID:26318259, PMID:26669661, PMID:27159321, PMID:27650965, PMID:27884173, PMID:28438721, PMID:28449774, PMID:28492532, PMID:28944242, PMID:29197658, PMID:31696929 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:18836444 NCBI chr 1:215,701,544...215,709,313
Ensembl chr 1:215,701,544...215,709,313
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by OMIM:130650
ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome
ClinVar Annotator: match by term: EMG Syndrome
ClinVar PMID:12464997, PMID:12807965, PMID:14517949, PMID:14571271, PMID:14627693, PMID:15452385, PMID:15742365, PMID:15942875, PMID:16222665, PMID:16232326, PMID:16247291, PMID:17565729, PMID:18001468, PMID:18414213, PMID:18505455, PMID:19545651, PMID:21196496, PMID:21597970, PMID:21972110, PMID:22924495, PMID:24088041, PMID:24412544, PMID:25326635, PMID:25326637, PMID:25533962, PMID:25608832, PMID:25741868, PMID:25741869, PMID:25852445, PMID:26633545, PMID:26690673, PMID:26896805, PMID:27604501, PMID:27834868, PMID:28475857, PMID:28492532, PMID:29264563, PMID:29276005, PMID:30311386 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Sptbn1 spectrin, beta, non-erythrocytic 1 ISS OMIM:130650 MouseDO NCBI chr14:114,517,839...114,700,199
Ensembl chr14:114,518,816...114,692,764
JBrowse link
brachydactyly-syndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome
ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:610713
OMIM
ClinVar
CTD
PMID:9758628, PMID:12649808, PMID:17236141, PMID:18177473, PMID:18399101, PMID:19429598, PMID:19686284, PMID:21814222, PMID:22233338, PMID:23995701, PMID:24239177, PMID:25741868, PMID:26581570, PMID:30311386 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
branchiootic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by OMIM:602588
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Branchiootic syndrome
ClinVar
CTD
PMID:9359046, PMID:9361030, PMID:10655545, PMID:10991693, PMID:11734542, PMID:12701758, PMID:15146463, PMID:15493068, PMID:15802522, PMID:16691597, PMID:16797546, PMID:18177466, PMID:18220287, PMID:18678597, PMID:19951260, PMID:21280147, PMID:22340499, PMID:22447252, PMID:23435380, PMID:23552953, PMID:23967202, PMID:24033266, PMID:24123792, PMID:24429398, PMID:24489909, PMID:25107291, PMID:25741868, PMID:26467025, PMID:26489027, PMID:26969326, PMID:27657687, PMID:28492532, PMID:29966037 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G Six1 SIX homeobox 1 ISS
ISO
OMIM:120502 | OMIM:602588 | OMIM:608389
ClinVar Annotator: match by term: Branchiootic syndrome
MouseDO
ClinVar
PMID:12843324, PMID:15141091, PMID:16652090, PMID:19497856, PMID:21254961, PMID:24033266, PMID:25741868 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
Branchiootic Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: BO syndrome 1 ClinVar
OMIM
PMID:10991693, PMID:24033266, PMID:25741868 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
Branchiootic Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Branchiootic syndrome 3
ClinVar Annotator: match by OMIM:608389
OMIM
ClinVar
PMID:10777717, PMID:12843324, PMID:15141091, PMID:16971658, PMID:17637804, PMID:19497856, PMID:21280147, PMID:24033266, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
branchiootorenal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Melnick-Fraser syndrome
ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:113650
DNA:mutations:exons,introns:multiple
DNA:deletion,mutations:exons, IVS:c.920delG, c.1773C>G(p.Y591X),IVS10-1G>A (1141-1G>A),IVS12+4A>G (c.1360+4A>G)(human)
ClinVar
CTD
PMID:2773990, PMID:5365063, PMID:9020840, PMID:9361030, PMID:9603436, PMID:10464653, PMID:10655545, PMID:10991693, PMID:11683347, PMID:11734542, PMID:12834866, PMID:15146463, PMID:15802522, PMID:16691597, PMID:16797546, PMID:18177466, PMID:18220287, PMID:18678597, PMID:19206155, PMID:19951260, PMID:20848651, PMID:21280147, PMID:22340499, PMID:22382802, PMID:22447252, PMID:23435380, PMID:23840632, PMID:23967202, PMID:24033266, PMID:24489909, PMID:25107291, PMID:25741868, PMID:26969326, PMID:27657687, PMID:28492532, PMID:28832562, PMID:29500469, PMID:30937553, PMID:9361030, PMID:16491411, PMID:17637804 RGD:1598917, RGD:8554897, RGD:8554880 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G Six1 SIX homeobox 1 ISO DNA:missense mutations,deletion:A386G(Y129C),C328T(R110W),397_399delGGA(E133del)(human)
ClinVar Annotator: match by term: Melnick-Fraser syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, snp:cds, intron:p.Y129C, p.P249L, c.560+3A>T (human)
ClinVar Annotator: match by OMIM:113650
DNA:mutations:cds:c.50T>A, c.218A>C, c.317T>G, c.329G>A, c.334C>T (human)
DNA:mutation:cds:c.364T>A (p.W122R)(human)
DNA:mutation:cds:p.E121G(mouse)
ClinVar
CTD
PMID:12843324, PMID:15141091, PMID:19497856, PMID:25326635, PMID:25741868, PMID:15141091, PMID:21280147, PMID:18330911, PMID:17637804, PMID:19389353 RGD:8554876, RGD:11064057, RGD:8554882, RGD:8554880, RGD:8554879 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
G Six5 SIX homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:80,000,106...80,005,303
Ensembl chr 1:80,000,165...80,003,232
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19685247 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
JBrowse link
branchiootorenal syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: BRANCHIOOTORENAL SYNDROME 1
ClinVar Annotator: match by term: Branchiootorenal syndrome 1
ClinVar
OMIM
PMID:9020840, PMID:10464653, PMID:10991693, PMID:15146463, PMID:18220287, PMID:19951260, PMID:21280147, PMID:24033266, PMID:24489909, PMID:25741868, PMID:28492532, PMID:28832562 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G Six1 SIX homeobox 1 ISS OMIM:113650 MouseDO NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
branchiootorenal syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six5 SIX homeobox 5 ISO ClinVar Annotator: match by term: Branchiootorenal syndrome 2 ClinVar
OMIM
PMID:17357085, PMID:21280147, PMID:25741868, PMID:27657687 NCBI chr 1:80,000,106...80,005,303
Ensembl chr 1:80,000,165...80,003,232
JBrowse link
Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Carpenter syndrome ClinVar NCBI chr 9:38,456,487...38,467,120
Ensembl chr 9:38,456,468...38,467,118
JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:82,184,671...82,234,045
Ensembl chr 1:82,185,034...82,234,045
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3322002, PMID:3993675, PMID:15129947, PMID:17503333, PMID:20358613, PMID:21412941, PMID:23599695, PMID:24458945, PMID:25168863, PMID:25741868, PMID:28492532 NCBI chr 9:38,469,784...38,496,185
Ensembl chr 9:38,470,298...38,495,176
JBrowse link
Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 1 ClinVar NCBI chr 9:38,456,487...38,467,120
Ensembl chr 9:38,456,468...38,467,118
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 1
ClinVar Annotator: match by OMIM:201000
OMIM
ClinVar
PMID:3322002, PMID:3993675, PMID:15129947, PMID:17503333, PMID:20358613, PMID:21412941, PMID:23599695, PMID:24458945, PMID:25168863, PMID:25741868, PMID:28492532 NCBI chr 9:38,469,784...38,496,185
Ensembl chr 9:38,470,298...38,495,176
JBrowse link
Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar Annotator: match by OMIM:614976
OMIM
ClinVar
PMID:23063620, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr 1:82,184,671...82,234,045
Ensembl chr 1:82,185,034...82,234,045
JBrowse link
Cenani-Lenz syndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome
ClinVar Annotator: match by term: SYNDACTYLY, TYPE VII
ClinVar Annotator: match by term: Syndactyly Cenani Lenz type
ClinVar Annotator: match by OMIM:212780
OMIM
ClinVar
PMID:7891385, PMID:9182770, PMID:10756427, PMID:11260233, PMID:12868467, PMID:14577675, PMID:18978656, PMID:20381006, PMID:21471202, PMID:24234652, PMID:25119311, PMID:25741868, PMID:26751728, PMID:28492532, PMID:28559208 NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
JBrowse link
chromosome 10q23 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1a bone morphogenetic protein receptor type 1A 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar 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 13q Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: CHROMOSOME 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q DELETION SYNDROME ClinVar NCBI chr15:93,634,815...93,644,146 JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: CHROMOSOME 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q 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 13q DELETION SYNDROME ClinVar NCBI chr15:46,008,613...46,134,319
Ensembl chr15:46,008,613...46,134,064
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,612,968...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 Qualifiers 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: 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 Qualifiers 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544363, PMID:22544367 NCBI chr10:92,388,045...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 17p13.3 duplication syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abr ABR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:64,565,121...64,657,079
Ensembl chr10:64,567,268...64,657,089
JBrowse link
G Bhlha9 basic helix-loop-helix family, member a9 ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:63,498,267...63,500,353
Ensembl chr10:63,498,698...63,499,390
JBrowse link
G Crk CRK proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:63,829,731...63,855,999
Ensembl chr10:63,829,807...63,852,780
JBrowse link
G Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:63,471,330...63,491,713
Ensembl chr10:63,471,331...63,491,713
JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:63,884,338...63,921,709
Ensembl chr10:63,884,338...63,921,709
JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aatf apoptosis antagonizing transcription factor ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346, PMID:21055719, PMID:24088041, PMID:26633545 NCBI chr10:71,744,648...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 Qualifiers 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba2 ubiquitin-like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome 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 Qualifiers 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 Qualifiers 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53bp2 tumor protein p53 binding protein, 2 ISS OMIM:612530 MouseDO NCBI chr13:100,817,206...100,873,837
Ensembl chr13:100,817,359...100,873,890
JBrowse link
chromosome 22q11.2 deletion syndrome, distal term browser
Symbol Object Name Qualifiers 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 2p16.3 DELETION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrxn1 neurexin 1 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
JBrowse link
chromosome 2q37 deletion syndrome term browser
Symbol Object Name Qualifiers 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: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 3, Monosomy 3p25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav3 caveolin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Oxtr oxytocin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chr 4:144,399,326...144,417,598
Ensembl chr 4:144,403,358...144,416,116
JBrowse link
G Srgap3 SLIT-ROBO Rho GTPase activating protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chr 4:144,638,782...144,869,961
Ensembl chr 4:144,638,335...144,869,919
JBrowse link
chromosome 4q21 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abraxas1 abraxas 1, BRCA1 A complex subunit ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr14:10,424,674...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 Qualifiers 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 Qualifiers 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 8, Trisomy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO associated with Myeloproliferative Disorders;DNA:missense mutation:cds:609C>T (human) RGD PMID:23643325 RGD:10769356 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
chromosome 9p deletion syndrome term browser
Symbol Object Name Qualifiers 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
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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
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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
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Chromosome Deletion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21526190 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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G Rad51d RAD51 paralog D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27924006 NCBI chr10:70,222,703...70,241,352
Ensembl chr10:70,227,163...70,241,254
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G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO RGD PMID:12920066 RGD:1599213 NCBI chr 7:130,474,278...130,534,679
Ensembl chr 7:130,474,279...130,534,679
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chromosome Xp11.22 duplication syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO OMIM NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
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Chromosome Xq26.3 Duplication Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome ClinVar PMID:25712922, PMID:26935837 NCBI chr  X:159,722,031...159,841,344
Ensembl chr  X:159,723,866...159,841,072
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G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome ClinVar PMID:26935837 NCBI chr  X:159,484,953...159,510,944
Ensembl chr  X:159,505,344...159,511,021
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome ClinVar PMID:25712922, PMID:26935837 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
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G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome ClinVar PMID:25712922, PMID:26935837 NCBI chr  X:140,296,220...140,303,743
Ensembl chr  X:140,299,770...140,303,686
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G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome ClinVar PMID:26935837 NCBI chr  X:159,514,053...159,528,281
Ensembl chr  X:159,513,800...159,528,281
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G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome ClinVar PMID:25712922, PMID:26935837 NCBI chr  X:159,881,835...159,891,405
Ensembl chr  X:159,884,885...159,891,326
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G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome ClinVar PMID:25712922, PMID:26935837 NCBI chr  X:159,556,296...159,576,639 JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:225060
OMIM
ClinVar
CTD
PMID:3035184, PMID:10932188, PMID:11559849, PMID:11756979, PMID:12893758, PMID:16195396, PMID:16674562, PMID:17089422, PMID:18223281, PMID:19132250, PMID:19715471, PMID:23560673, PMID:24560896, PMID:28492532 NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
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congenital heart defects, hamartomas of tongue, and polysyndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Orstavik Lindemann Solberg syndrome
ClinVar Annotator: match by term: Congenital heart defects, hamartomas of tongue, and polysyndactyly
ClinVar
OMIM
PMID:20671153, PMID:25326635, PMID:25427950, PMID:25741868, PMID:27158779, PMID:28492532 NCBI chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505
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Contiguous Abcd1/Dxs1375e Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcap31 B-cell receptor-associated protein 31 ISO OMIM NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
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Cornelia de Lange syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379197 NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
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G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1
ClinVar Annotator: match by term: Brachmann de Lange syndrome
ClinVar Annotator: match by term: Cornelia de Lange Syndrome
ClinVar PMID:18414213, PMID:26467025, PMID:28492532 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
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G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by OMIM:122470
ClinVar Annotator: match by term: Typus degenerativus amstelodamensis
ClinVar Annotator: match by term: Brachmann de Lange syndrome
ClinVar Annotator: match by term: Cornelia de Lange Syndrome
ClinVar Annotator: match by term: De Lange syndrome
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15318302, PMID:17661813, PMID:18414213, PMID:19763162, PMID:19886366, PMID:24038889, PMID:24918291, PMID:25741868, PMID:26467025, PMID:26597256, PMID:28492532, PMID:29379197 NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820
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G Pds5a PDS5 cohesin associated factor A ISS OMIM:122470 | OMIM:300590 | OMIM:300882 | OMIM:610759 | OMIM:614701 MouseDO NCBI chr14:44,185,445...44,282,308
Ensembl chr14:44,185,446...44,280,079
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G Rad21 RAD21 cohesin complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:91,511,755...91,538,673
Ensembl chr 7:91,511,756...91,538,673
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G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by OMIM:300590
ClinVar Annotator: match by term: Cornelia de Lange Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr  X:21,710,976...21,755,708
Ensembl chr  X:21,711,019...21,755,525
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G Smc3 structural maintenance of chromosomes 3 ISO ClinVar Annotator: match by OMIM:610759
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cornelia de Lange syndrome 3
ClinVar
CTD
PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 1:274,310,120...274,352,856
Ensembl chr 1:274,309,758...274,352,854
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Cornelia de Lange syndrome 1 term browser