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Pathways

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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



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16p11.2 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930451I11Rik RIKEN cDNA 4930451I11 gene ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,429,640...126,430,712
Ensembl chr 7:126,429,640...126,430,811
JBrowse link
G AI467606 expressed sequence AI467606 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,689,952...126,693,221
Ensembl chr 7:126,690,531...126,693,158
JBrowse link
G Aldoa aldolase A, fructose-bisphosphate ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 NCBI chr 7:126,394,406...126,399,537
Ensembl chr 7:126,394,406...126,399,923
Ensembl chr 7:126,394,406...126,399,923
JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,545,159...126,548,754
Ensembl chr 7:126,544,739...126,548,754
JBrowse link
G Atp2a1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:126,045,032...126,062,245
Ensembl chr 7:126,045,030...126,062,280
JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:126,090,880...126,106,991
Ensembl chr 7:126,090,880...126,102,609
JBrowse link
G Bola2 bolA family member 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 7:126,295,172...126,295,865
Ensembl chr 7:126,294,573...126,298,970
JBrowse link
G Cd19 CD19 antigen ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061
JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,575,630...126,579,671
Ensembl chr 7:126,575,086...126,579,673
JBrowse link
G Cdiptos CDIP transferase, opposite strand ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 NCBI chr 7:126,571,792...126,575,575
Ensembl chr 7:126,570,894...126,575,270
JBrowse link
G Coro1a coronin, actin binding protein 1A ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,298,946...126,303,925
Ensembl chr 7:126,298,945...126,306,959
JBrowse link
G Doc2a double C2, alpha ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,446,525...126,451,877
Ensembl chr 7:126,446,588...126,451,877
JBrowse link
G Eif3c eukaryotic translation initiation factor 3, subunit C ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 7:126,146,083...126,165,538
Ensembl chr 7:126,145,627...126,165,583
JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,365,586...126,374,817
Ensembl chr 7:126,365,506...126,374,821
JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,461,155...126,464,549
Ensembl chr 7:126,461,144...126,464,549
JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,450,756...126,461,544
Ensembl chr 7:126,450,132...126,461,549
JBrowse link
G Kctd13 potassium channel tetramerisation domain containing 13 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,528,051...126,544,781
Ensembl chr 7:126,528,051...126,544,803
JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,626,901...126,641,639
Ensembl chr 7:126,626,901...126,641,643
JBrowse link
G Lat linker for activation of T cells ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:125,962,999...125,968,877
Ensembl chr 7:125,962,996...125,968,742
JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
JBrowse link
G Maz MYC-associated zinc finger protein (purine-binding transcription factor) ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,621,306...126,626,177
Ensembl chr 7:126,621,302...126,626,209
JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,586,032...126,613,766
Ensembl chr 7:126,586,032...126,613,793
JBrowse link
G Nfatc2ip nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2 interacting protein ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:125,982,025...125,995,909
Ensembl chr 7:125,982,026...125,995,909
JBrowse link
G Pagr1a PAXIP1 associated glutamate rich protein 1A ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,614,223...126,616,524
Ensembl chr 7:126,614,205...126,616,524
Ensembl chr 7:126,614,205...126,616,524
JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,385,038...126,391,729
Ensembl chr 7:126,385,038...126,391,668
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,616,707...126,620,800
Ensembl chr 7:126,616,703...126,620,383
JBrowse link
G Qprt quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,706,942...126,721,201
Ensembl chr 7:126,706,286...126,721,398
JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:126,027,596...126,045,079
Ensembl chr 7:126,027,931...126,048,417
JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,549,665...126,569,782
Ensembl chr 7:126,549,735...126,569,778
JBrowse link
G Sftpa1 surfactant associated protein A1 ISO ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409
JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:126,066,165...126,075,882
Ensembl chr 7:126,066,166...126,074,596
JBrowse link
G Slx1b SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae) ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 7:126,288,099...126,294,955
Ensembl chr 7:126,288,640...126,294,956
JBrowse link
G Spn sialophorin ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,731,404...126,743,785
Ensembl chr 7:126,731,404...126,736,995
JBrowse link
G Spns1 SPNS lysolipid transporter 1, lysophospholipid ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:125,969,232...125,977,179
Ensembl chr 7:125,969,232...125,976,622
JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,464,848...126,485,468
Ensembl chr 7:126,464,850...126,483,875
JBrowse link
G Tbx6 T-box 6 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732
JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,413,213...126,429,391
Ensembl chr 7:126,396,840...126,429,391
JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,485,391...126,527,993
Ensembl chr 7:126,485,343...126,522,089
JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:126,086,445...126,089,903
Ensembl chr 7:126,086,533...126,089,903
JBrowse link
G Ypel3 yippee like 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,376,135...126,379,682
Ensembl chr 7:126,376,127...126,379,686
JBrowse link
G Zg16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,649,328...126,651,847
Ensembl chr 7:126,649,328...126,686,500
JBrowse link
16Q24.3 Microdeletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700018B08Rik RIKEN cDNA 1700018B08 gene ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,257,515...122,271,077
Ensembl chr 8:122,257,519...122,271,059
JBrowse link
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,502,209...123,544,626
Ensembl chr 8:123,502,225...123,544,619
JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,301,376...123,303,646
Ensembl chr 8:123,301,374...123,303,648
JBrowse link
G Banp BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,674,711...122,755,999
Ensembl chr 8:122,676,489...122,755,997
JBrowse link
G Car5a carbonic anhydrase 5a, mitochondrial ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,642,874...122,671,651
Ensembl chr 8:122,642,865...122,671,643
JBrowse link
G Cbfa2t3 CBFA2/RUNX1 translocation partner 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,351,875...123,426,069
Ensembl chr 8:123,351,880...123,425,848
JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,575,113...123,594,136
Ensembl chr 8:123,574,705...123,594,136
JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,294,754...123,299,869
Ensembl chr 8:123,294,754...123,300,293
JBrowse link
G Cpne7 copine VII ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,844,054...123,861,924
Ensembl chr 8:123,844,113...123,861,921
JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,202,882...123,209,831
Ensembl chr 8:123,202,882...123,210,877
JBrowse link
G Cyba cytochrome b-245, alpha polypeptide ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
JBrowse link
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,276,182...122,305,607
Ensembl chr 8:122,276,179...122,305,545
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,304,976...123,338,226
Ensembl chr 8:123,304,981...123,338,202
JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,147,912...123,150,820
Ensembl chr 8:123,148,759...123,150,378
JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,457,298...122,517,822
Ensembl chr 8:122,456,362...122,521,015
JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,523,047...122,556,322
Ensembl chr 8:122,523,052...122,556,308
JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,317,177...122,325,499
Ensembl chr 8:122,317,100...122,325,499
JBrowse link
G Mvd mevalonate (diphospho) decarboxylase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,160,335...123,170,161
Ensembl chr 8:123,160,340...123,170,161
JBrowse link
G Pabpn1l poly(A)binding protein nuclear 1-like ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,346,210...123,349,474
Ensembl chr 8:123,346,210...123,349,478
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068
JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,192,884...123,202,813
Ensembl chr 8:123,192,886...123,202,803
JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983
JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
JBrowse link
G Snai3 snail family zinc finger 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,180,943...123,187,546
Ensembl chr 8:123,180,947...123,187,472
JBrowse link
G Trappc2l trafficking protein particle complex 2L ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,338,365...123,342,330
Ensembl chr 8:123,338,379...123,343,399
JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,103,298...123,144,104
Ensembl chr 8:123,103,348...123,144,099
JBrowse link
G Zcchc14 zinc finger, CCHC domain containing 14 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,325,442...122,379,662
Ensembl chr 8:122,325,442...122,379,640
JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 9:20,338,457...20,371,465
Ensembl chr 9:20,339,745...20,371,458
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389
JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:123,008,595...123,064,601
Ensembl chr 8:123,008,880...123,063,990
JBrowse link
1q24 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930523C07Rik RIKEN cDNA 4930523C07 gene ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:159,871,950...159,906,157
Ensembl chr 1:159,871,952...159,907,778
JBrowse link
G 4930558K02Rik RIKEN cDNA 4930558K02 gene ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:161,769,658...161,809,940
Ensembl chr 1:161,769,655...161,807,205
JBrowse link
G Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,386,160...156,477,189
Ensembl chr 1:156,386,356...156,477,138
JBrowse link
G Acbd6 acyl-Coenzyme A binding domain containing 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,433,845...155,564,120
Ensembl chr 1:155,433,866...155,567,076
JBrowse link
G Angptl1 angiopoietin-like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,666,495...156,688,648
Ensembl chr 1:156,666,132...156,688,648
JBrowse link
G Ankrd45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:160,970,017...160,998,077
Ensembl chr 1:160,970,261...160,998,068
JBrowse link
G Astn1 astrotactin 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,189,647...158,519,351
Ensembl chr 1:158,189,843...158,519,351
JBrowse link
G Atp1b1 ATPase, Na+/K+ transporting, beta 1 polypeptide ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:164,264,668...164,285,924
Ensembl chr 1:164,264,678...164,285,924
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,157,985...156,248,743
Ensembl chr 1:156,151,079...156,248,729
JBrowse link
G BC034090 cDNA sequence BC034090 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,088,217...155,123,504
Ensembl chr 1:155,088,217...155,120,190
JBrowse link
G Blzf1 basic leucine zipper nuclear factor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:164,117,368...164,135,056
Ensembl chr 1:164,117,369...164,135,058
JBrowse link
G Brinp2 bone morphogenic protein/retinoic acid inducible neural-specific 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,072,835...158,185,096
Ensembl chr 1:158,072,839...158,183,896
JBrowse link
G Cacna1e calcium channel, voltage-dependent, R type, alpha 1E subunit ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,266,552...154,760,374
Ensembl chr 1:154,266,477...154,760,247
JBrowse link
G Cacybp calcyclin binding protein ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:160,029,937...160,040,462
Ensembl chr 1:160,029,937...160,040,445
JBrowse link
G Ccdc181 coiled-coil domain containing 181 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:164,103,126...164,115,416
Ensembl chr 1:164,103,154...164,115,416
JBrowse link
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:160,898,337...160,914,294
Ensembl chr 1:160,898,283...160,914,294
JBrowse link
G Cep350 centrosomal protein 350 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,720,710...155,849,001
Ensembl chr 1:155,720,710...155,849,001
JBrowse link
G Cop1 COP1, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:159,059,734...159,182,442
Ensembl chr 1:159,059,890...159,175,210
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:160,868,171...160,898,236
Ensembl chr 1:160,868,171...160,898,228
JBrowse link
G Dhx9 DExH-box helicase 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:153,331,506...153,363,464
Ensembl chr 1:153,331,504...153,363,406
JBrowse link
G Dnm3 dynamin 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:161,810,022...162,305,890
Ensembl chr 1:161,810,022...162,305,603
JBrowse link
G Dnm3os dynamin 3, opposite strand ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,045,192...162,053,119
Ensembl chr 1:162,045,192...162,053,119
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846
JBrowse link
G Fam163a family with sequence similarity 163, member A ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,951,702...156,033,027
Ensembl chr 1:155,951,712...156,032,596
JBrowse link
G Fam20b FAM20B, glycosaminoglycan xylosylkinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,506,127...156,547,204
Ensembl chr 1:156,506,102...156,546,656
JBrowse link
G Fasl Fas ligand ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
JBrowse link
G Firrm FIGNL1 interacting regulator of recombination and mitosis ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,773,409...163,822,377
Ensembl chr 1:163,773,562...163,822,365
JBrowse link
G Fmo1 flavin containing monooxygenase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,657,130...162,694,179
Ensembl chr 1:162,657,130...162,694,179
JBrowse link
G Fmo2 flavin containing monooxygenase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,701,886...162,726,327
Ensembl chr 1:162,701,886...162,726,295
JBrowse link
G Fmo3 flavin containing monooxygenase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,781,368...162,812,097
Ensembl chr 1:162,781,369...162,812,097
JBrowse link
G Fmo4 flavin containing monooxygenase 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,620,757...162,643,788
Ensembl chr 1:162,620,757...162,641,541
JBrowse link
G Gas5 growth arrest specific 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:160,862,171...160,866,109
Ensembl chr 1:160,861,992...160,866,116
JBrowse link
G Glul glutamate-ammonia ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:153,775,692...153,785,469
Ensembl chr 1:153,775,690...153,785,469
JBrowse link
G Gm6185 predicted gene 6185 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:161,006,274...161,062,743
Ensembl chr 1:161,004,506...161,062,740
JBrowse link
G Gorab golgin, RAB6-interacting ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,212,472...163,231,238
Ensembl chr 1:163,212,477...163,231,238
JBrowse link
G Gpr52 G protein-coupled receptor 52 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:160,402,287...160,407,274
Ensembl chr 1:160,403,908...160,405,544
JBrowse link
G Ier5 immediate early response 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,972,113...154,975,382
Ensembl chr 1:154,972,107...154,975,382
JBrowse link
G Kifap3 kinesin-associated protein 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,589,711...163,744,676
Ensembl chr 1:163,607,152...163,744,678
JBrowse link
G Klhl20 kelch-like 20 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:160,915,945...160,959,078
Ensembl chr 1:160,915,945...160,959,081
JBrowse link
G Lamc1 laminin, gamma 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:153,094,668...153,208,532
Ensembl chr 1:153,094,668...153,208,532
JBrowse link
G Lamc2 laminin, gamma 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:152,998,502...153,062,193
Ensembl chr 1:152,998,502...153,062,193
JBrowse link
G Lhx4 LIM homeobox protein 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,573,777...155,627,481
Ensembl chr 1:155,573,777...155,627,430
JBrowse link
G Mettl13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,359,694...162,376,098
Ensembl chr 1:162,359,696...162,376,120
JBrowse link
G Mettl18 methyltransferase like 18 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,822,458...163,824,812
Ensembl chr 1:163,822,458...163,824,812
JBrowse link
G Mir199a-2 microRNA 199a-2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,045,383...162,045,492
Ensembl chr 1:162,045,383...162,045,492
JBrowse link
G Mir214 microRNA 214 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,050,937...162,051,046
Ensembl chr 1:162,050,937...162,051,046
JBrowse link
G Mr1 major histocompatibility complex, class I-related ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,003,620...155,022,560
Ensembl chr 1:155,003,023...155,022,560
JBrowse link
G Mroh9 maestro heat-like repeat family member 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,851,871...162,913,239
Ensembl chr 1:162,851,871...162,913,239
JBrowse link
G Mrps14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:160,022,785...160,028,756
Ensembl chr 1:160,022,785...160,029,740
JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,466,719...162,477,263
Ensembl chr 1:162,466,724...162,477,262
JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:152,675,904...152,712,741
Ensembl chr 1:152,675,945...152,712,742
JBrowse link
G Nme7 NME/NM23 family member 7 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:164,135,091...164,264,870
Ensembl chr 1:164,131,690...164,265,294
JBrowse link
G Nmnat2 nicotinamide nucleotide adenylyltransferase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:152,830,532...152,995,012
Ensembl chr 1:152,830,744...152,995,007
JBrowse link
G Nphs2 nephrosis 2, podocin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:153,378,762...153,425,460
Ensembl chr 1:153,378,761...153,425,791
JBrowse link
G Ntmt2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,529,415...163,552,801
Ensembl chr 1:163,529,825...163,552,801
JBrowse link
G Pappa2 pappalysin 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,539,297...158,788,019
Ensembl chr 1:158,539,297...158,808,060
JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:161,796,757...161,801,029
Ensembl chr 1:161,796,755...161,801,004
JBrowse link
G Prdx6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:161,067,682...161,078,780
Ensembl chr 1:161,067,682...161,078,789
JBrowse link
G Prrc2c proline-rich coiled-coil 2C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,499,354...162,568,125
Ensembl chr 1:162,498,294...162,568,125
JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,072,688...163,142,714
Ensembl chr 1:163,072,688...163,141,279
JBrowse link
G Qsox1 quiescin Q6 sulfhydryl oxidase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,653,901...155,688,645
Ensembl chr 1:155,651,775...155,688,635
JBrowse link
G Rabgap1l RAB GTPase activating protein 1-like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:160,046,744...160,621,046
Ensembl chr 1:160,046,744...160,620,781
JBrowse link
G Ralgps2 Ral GEF with PH domain and SH3 binding motif 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,631,736...156,767,422
Ensembl chr 1:156,631,736...156,767,196
JBrowse link
G Rasal2 RAS protein activator like 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,962,759...157,240,170
Ensembl chr 1:156,962,752...157,240,165
JBrowse link
G Rc3h1 RING CCCH (C3H) domains 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:160,733,981...160,802,546
Ensembl chr 1:160,733,988...160,802,548
JBrowse link
G Rgs16 regulator of G-protein signaling 16 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:153,616,099...153,621,212
Ensembl chr 1:153,616,095...153,621,214
JBrowse link
G Rgs8 regulator of G-protein signaling 8 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:153,528,612...153,573,415
Ensembl chr 1:153,528,771...153,576,069
JBrowse link
G Rgsl1 regulator of G-protein signaling like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:153,653,675...153,723,087
Ensembl chr 1:153,655,127...153,719,888
JBrowse link
G Rnasel ribonuclease L (2', 5'-oligoisoadenylate synthetase-dependent) ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:153,625,089...153,644,441
Ensembl chr 1:153,625,172...153,639,967
JBrowse link
G Scyl3 SCY1-like 3 (S. cerevisiae) ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,756,669...163,782,695
Ensembl chr 1:163,756,669...163,782,695
JBrowse link
G Sec16b SEC16 homolog B, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:157,334,303...157,395,995
Ensembl chr 1:157,334,298...157,395,995
JBrowse link
G Sele selectin, endothelial cell ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,867,200...163,886,056
Ensembl chr 1:163,875,773...163,885,246
JBrowse link
G Sell selectin, lymphocyte ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,889,556...163,908,354
Ensembl chr 1:163,889,551...163,911,750
JBrowse link
G Selp selectin, platelet ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595
JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433
JBrowse link
G Shcbp1l Shc SH2-domain binding protein 1-like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:153,300,846...153,328,320
Ensembl chr 1:153,300,908...153,328,320
JBrowse link
G Slc19a2 solute carrier family 19 (thiamine transporter), member 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:164,076,615...164,092,954
Ensembl chr 1:164,076,615...164,092,954
JBrowse link
G Smg7 SMG7 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:152,712,746...152,783,212
Ensembl chr 1:152,712,746...152,778,397
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,255,678...156,301,898
Ensembl chr 1:156,252,095...156,301,901
JBrowse link
G Stx6 syntaxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,034,374...155,083,405
Ensembl chr 1:155,034,461...155,084,002
JBrowse link
G Suco SUN domain containing ossification factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:161,643,681...161,704,506
Ensembl chr 1:161,643,683...161,704,251
JBrowse link
G Tdrd5 tudor domain containing 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,082,866...156,131,874
Ensembl chr 1:156,082,866...156,131,234
JBrowse link
G Teddm1b transmembrane epididymal protein 1B ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:153,750,089...153,752,622
Ensembl chr 1:153,750,091...153,752,617
JBrowse link
G Tex35 testis expressed 35 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,926,711...156,938,506
Ensembl chr 1:156,926,709...156,936,250
JBrowse link
G Tnfsf18 tumor necrosis factor (ligand) superfamily, member 18 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:161,322,221...161,333,903
Ensembl chr 1:161,322,224...161,332,859
JBrowse link
G Tnfsf4 tumor necrosis factor (ligand) superfamily, member 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:161,223,009...161,245,777
Ensembl chr 1:161,222,980...161,245,981
JBrowse link
G Tnn tenascin N ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:159,912,599...159,981,242
Ensembl chr 1:159,912,599...159,981,150
JBrowse link
G Tnr tenascin R ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:159,351,170...159,759,299
Ensembl chr 1:159,351,339...159,759,299
JBrowse link
G Tor1aip1 torsin A interacting protein 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,880,328...155,912,226
Ensembl chr 1:155,880,345...155,912,226
JBrowse link
G Tor1aip2 torsin A interacting protein 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,911,410...155,944,607
Ensembl chr 1:155,911,149...155,944,607
JBrowse link
G Tor3a torsin family 3, member A ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,481,187...156,501,909
Ensembl chr 1:156,481,187...156,501,926
JBrowse link
G Vamp4 vesicle-associated membrane protein 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:162,398,084...162,426,651
Ensembl chr 1:162,398,084...162,426,653
JBrowse link
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,151,403...155,293,190
Ensembl chr 1:155,151,447...155,293,161
JBrowse link
G Zbtb37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:160,830,492...160,862,432
Ensembl chr 1:160,830,492...160,862,419
JBrowse link
G Zfp648 zinc finger protein 648 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,076,933...154,088,955
Ensembl chr 1:154,076,933...154,081,435
JBrowse link
22q11 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12223415 NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354
JBrowse link
G Six1 sine oculis-related homeobox 1 IMP RGD PMID:21364285 RGD:11561941 NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661
JBrowse link
G Tbx1 T-box 1 IMP RGD PMID:16452092 RGD:155663362 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421
JBrowse link
3p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930590J08Rik RIKEN cDNA 4930590J08 gene ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,877,732...91,928,717
Ensembl chr 6:91,879,790...91,927,706
JBrowse link
G Ankrd28 ankyrin repeat domain 28 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,418,687...31,552,374
Ensembl chr14:31,420,725...31,552,608
JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,363,014...31,390,154
Ensembl chr14:31,362,985...31,390,536
JBrowse link
G Capn7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,058,582...31,093,944
Ensembl chr14:31,058,595...31,093,943
JBrowse link
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,819,983...91,876,830
Ensembl chr 6:91,855,034...91,876,824
JBrowse link
G Chchd4 coiled-coil-helix-coiled-coil-helix domain containing 4 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,441,258...91,450,405
Ensembl chr 6:91,439,154...91,450,528
JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,245,039...31,299,820
Ensembl chr14:31,245,039...31,313,300
JBrowse link
G Dazl deleted in azoospermia-like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:50,586,422...50,600,627
Ensembl chr17:50,586,423...50,600,664
JBrowse link
G Dph3 diphthamine biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,802,474...31,807,649
Ensembl chr14:31,802,523...31,807,686
JBrowse link
G Eaf1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,217,036...31,231,815
Ensembl chr14:31,216,356...31,231,815
JBrowse link
G Efhb EF hand domain family, member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:53,705,077...53,770,362
Ensembl chr17:53,705,917...53,770,349
JBrowse link
G Fbln2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,189,442...91,249,522
Ensembl chr 6:91,189,437...91,249,522
JBrowse link
G Fgd5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,955,809...92,052,986
Ensembl chr 6:91,955,859...92,052,985
JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,750,739...31,784,161
Ensembl chr14:31,750,946...31,784,154
JBrowse link
G Grip2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,738,433...91,820,884
Ensembl chr 6:91,738,490...91,804,231
JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,329,183...31,364,201
Ensembl chr14:31,320,687...31,363,243
JBrowse link
G Hdac11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,133,652...91,151,674
Ensembl chr 6:91,133,647...91,151,674
JBrowse link
G Kat2b K(lysine) acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:53,873,802...53,979,749
Ensembl chr17:53,873,889...53,979,748
JBrowse link
G Kcnh8 potassium voltage-gated channel, subfamily H (eag-related), member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:52,909,535...53,286,892
Ensembl chr17:52,909,737...53,286,222
JBrowse link
G Lsm3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,493,017...91,499,602
Ensembl chr 6:91,492,910...91,499,607
JBrowse link
G Mettl6 methyltransferase 6, methylcytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,180,775...31,217,007
Ensembl chr14:31,195,535...31,216,997
JBrowse link
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:92,146,493...92,161,004
Ensembl chr 6:92,146,506...92,161,014
JBrowse link
G Nr2c2 nuclear receptor subfamily 2, group C, member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:92,068,426...92,150,039
Ensembl chr 6:92,068,371...92,151,275
JBrowse link
G Nup210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:90,990,049...91,095,920
Ensembl chr 6:90,990,050...91,093,811
JBrowse link
G Oxnad1 oxidoreductase NAD-binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,807,301...31,825,160
Ensembl chr14:31,807,331...31,825,159
JBrowse link
G Plcl2 phospholipase C-like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:50,815,893...50,995,522
Ensembl chr17:50,816,431...50,995,512
JBrowse link
G Pp2d1 protein phosphatase 2C-like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:53,814,488...53,846,479
Ensembl chr17:53,814,488...53,846,479
JBrowse link
G Rab5a RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:53,786,262...53,814,706
Ensembl chr17:53,786,262...53,814,708
JBrowse link
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:92,163,693...92,191,874
Ensembl chr 6:92,163,693...92,191,906
JBrowse link
G Rftn1 raftlin lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:50,300,287...50,497,525
Ensembl chr17:50,299,285...50,497,702
JBrowse link
G Satb1 special AT-rich sequence binding protein 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:52,043,215...52,140,318
Ensembl chr17:52,043,215...52,140,318
JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396
JBrowse link
G Sh3bp5 SH3-domain binding protein 5 (BTK-associated) ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,094,571...31,158,056
Ensembl chr14:31,081,837...31,158,035
JBrowse link
G Slc6a6 solute carrier family 6 (neurotransmitter transporter, taurine), member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,661,031...91,736,044
Ensembl chr 6:91,661,034...91,736,047
JBrowse link
G Tbc1d5 TBC1 domain family, member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:51,040,155...51,488,228
Ensembl chr17:51,040,152...51,486,380
JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 6:113,023,292...113,045,239
Ensembl chr 6:113,023,186...113,045,234
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,450,689...91,465,445
Ensembl chr 6:91,450,685...91,465,445
JBrowse link
G Wnt7a wingless-type MMTV integration site family, member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,340,963...91,388,335
Ensembl chr 6:91,340,963...91,388,345
JBrowse link
G Xpc xeroderma pigmentosum, complementation group C ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,466,287...91,492,870
Ensembl chr 6:91,466,287...91,492,870
JBrowse link
46,XY sex reversal 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY (sex determining region Y)-box 9 ISO ClinVar Annotator: match by term: 46,XY sex reversal 10 ClinVar PMID:567843 PMID:6620326 PMID:22051515 PMID:25604083 NCBI chr11:112,673,036...112,678,583
Ensembl chr11:112,673,050...112,678,586
JBrowse link
46,XY sex reversal 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal 4 ClinVar PMID:25741868 NCBI chr19:25,483,070...25,581,692
Ensembl chr19:25,482,982...25,581,693
JBrowse link
autosomal dominant intellectual developmental disorder 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb18 zinc finger and BTB domain containing 18 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 | ClinVar Annotator: match by term: ZBTB18-Related Disorder
OMIM
CTD
ClinVar
PMID:24193349 PMID:25741868 PMID:26740508 PMID:27598823 PMID:28135719 More... NCBI chr 1:177,269,858...177,278,330
Ensembl chr 1:177,269,917...177,278,330
JBrowse link
Chromosome 11p Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:28492532 NCBI chr 2:105,527,665...105,734,909
Ensembl chr 2:105,531,372...105,734,909
JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar NCBI chr 2:105,490,598...105,506,398 JBrowse link
G LOC107983946 Wt1 promoter region ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:104,956,361...104,957,127 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 More... NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:6307071 More... NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933427D06Rik RIKEN cDNA 4933427D06 gene ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 6:89,073,092...89,087,021
Ensembl chr 6:88,927,665...89,087,013
JBrowse link
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,284,448...103,294,009
Ensembl chr14:103,284,413...103,294,009
JBrowse link
G Alg11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,550,731...22,561,643
Ensembl chr 8:22,550,737...22,561,643
JBrowse link
G Arl11 ADP-ribosylation factor-like 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,543,740...61,549,386
Ensembl chr14:61,547,202...61,549,385
JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321
JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,283,880...99,311,976
Ensembl chr14:99,283,658...99,311,976
JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,678,400...59,786,353
Ensembl chr14:59,678,421...59,823,213
JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,459,791...22,464,071
Ensembl chr 8:22,459,791...22,464,057
JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,796,837...59,835,433
Ensembl chr14:59,796,837...59,835,408
JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,658,168...22,675,835
Ensembl chr 8:22,658,176...22,675,835
JBrowse link
G Cln5 ceroid-lipofuscinosis, neuronal 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,307,679...103,315,064
Ensembl chr14:103,307,652...103,315,064
JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,875,122...79,899,634
Ensembl chr14:79,875,130...79,899,610
JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,871,202...101,877,907
Ensembl chr14:101,870,417...101,878,122
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,263,043...73,286,554
Ensembl chr14:73,263,043...73,286,554
JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:98,024,282...98,407,608
Ensembl chr14:98,024,289...98,407,201
JBrowse link
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:86,892,793...87,378,683
Ensembl chr14:86,892,803...87,378,671
JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,314,070...99,337,217
Ensembl chr14:99,312,642...99,337,206
JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,513,678...62,530,428
Ensembl chr14:62,513,680...62,530,496
JBrowse link
G Ebpl emopamil binding protein-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,577,212...61,597,894
Ensembl chr14:61,569,191...61,597,888
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,052,051...104,083,248
Ensembl chr14:104,052,061...104,081,838
JBrowse link
G Fam124a family with sequence similarity 124, member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,793,186...62,845,935
Ensembl chr14:62,793,186...62,845,935
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,317,675...103,337,036
Ensembl chr14:103,317,675...103,337,002
JBrowse link
G Fndc3a fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:72,775,388...72,948,141
Ensembl chr14:72,775,386...72,947,443
JBrowse link
G Gm4131 predicted gene 4131 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,699,937...62,718,604
Ensembl chr14:62,700,863...62,804,370
JBrowse link
G Gm45935 predicted gene, 45935 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,618,282...59,678,329 JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,913,774...62,998,617
Ensembl chr14:62,913,779...62,998,618
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729
JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,844,905...61,850,282
Ensembl chr14:61,844,906...61,850,275
JBrowse link
G Kctd12 potassium channel tetramerisation domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,214,017...103,220,073
Ensembl chr14:103,214,017...103,220,073
JBrowse link
G Klf12 Kruppel-like transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:100,103,617...100,719,681
Ensembl chr14:100,108,068...100,522,115
JBrowse link
G Klf5 Kruppel-like transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,536,127...99,550,848
Ensembl chr14:99,536,127...99,552,472
JBrowse link
G Klhl1 kelch-like 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:96,342,695...96,756,525
Ensembl chr14:96,340,172...96,756,538
JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,602,635...61,677,396
Ensembl chr14:61,602,660...61,677,323
JBrowse link
G Krtap21-1 keratin associated protein 21-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:89,199,915...89,200,662
Ensembl chr16:89,200,106...89,200,756
JBrowse link
G Lmo7 LIM domain only 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,967,353...102,172,144
Ensembl chr14:101,967,393...102,172,146
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,475,331...73,477,798
Ensembl chr14:73,475,335...73,480,734
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,747,489...73,755,985
Ensembl chr14:73,747,465...73,756,289
JBrowse link
G Mir15a microRNA 15a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,869,476...61,869,559
Ensembl chr14:61,869,476...61,869,559
JBrowse link
G Mir16-1 microRNA 16-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,869,329...61,869,421
Ensembl chr14:61,869,329...61,869,421
JBrowse link
G Mir759 microRNA 759 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,975,871...79,975,968
Ensembl chr14:79,975,871...79,975,968
JBrowse link
G Mycbp2 MYC binding protein 2, E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,350,847...103,584,276
Ensembl chr14:103,350,847...103,584,250
JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,271,980...99,283,898
Ensembl chr14:99,271,980...99,283,570
JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,495,975...105,546,732
Ensembl chr14:105,496,008...105,546,732
JBrowse link
G Nek3 NIMA (never in mitosis gene a)-related expressed kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,618,299...22,657,009
Ensembl chr 8:22,618,299...22,656,451
JBrowse link
G Nek5 NIMA (never in mitosis gene a)-related expressed kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,563,631...22,615,443
Ensembl chr 8:22,563,632...22,615,069
JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,756,320...73,785,682
Ensembl chr14:73,756,317...73,785,682
JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,714,970...104,760,148
Ensembl chr14:104,714,972...104,760,081
JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:80,237,742...80,260,581
Ensembl chr14:80,221,521...80,260,579
JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:84,680,626...84,775,005
Ensembl chr14:84,681,003...84,776,442
JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:88,702,183...88,708,832
Ensembl chr14:88,702,179...88,708,832
JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:80,004,224...80,008,752
Ensembl chr14:80,004,215...80,008,752
JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:93,251,136...94,132,619
Ensembl chr14:93,250,846...94,128,115
JBrowse link
G Phf11d PHD finger protein 11D ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,584,856...59,602,939
Ensembl chr14:59,584,856...59,602,919
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,336,860...99,492,335
Ensembl chr14:99,336,860...99,491,929
JBrowse link
G Pou4f1 POU domain, class 4, transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,699,111...104,705,554
Ensembl chr14:104,699,112...104,705,435
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,344,187...105,418,475
Ensembl chr14:105,344,187...105,414,763
JBrowse link
G Rcbtb1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,438,471...59,474,716
Ensembl chr14:59,438,658...59,474,714
JBrowse link
G Rcbtb2 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,376,185...73,421,495
Ensembl chr14:73,360,477...73,445,283
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,569,517...62,610,445
Ensembl chr14:62,530,038...62,610,441
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,750,499...103,850,782
Ensembl chr14:103,750,778...103,850,233
JBrowse link
G Serpine3 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,900,743...62,929,692
Ensembl chr14:62,901,116...62,929,692
JBrowse link
G Setdb2 SET domain, bifurcated 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,639,458...59,678,329
Ensembl chr14:59,639,458...59,678,333
JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,887,664...103,942,343
Ensembl chr14:103,887,664...103,942,343
JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:109,147,420...109,151,671
Ensembl chr14:109,146,232...109,151,590
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:110,984,770...110,992,640
Ensembl chr14:110,986,012...110,992,581
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:106,129,381...106,134,899
Ensembl chr14:106,129,381...106,134,253
JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,769,300...61,794,335
Ensembl chr14:61,769,442...61,794,335
JBrowse link
G Sucla2 succinate-Coenzyme A ligase, ADP-forming, beta subunit ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,790,226...73,833,584
Ensembl chr14:73,762,759...73,833,582
JBrowse link
G Sugt1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,825,100...79,868,237
Ensembl chr14:79,825,131...79,872,636
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,679,800...101,846,717
Ensembl chr14:101,679,796...101,846,627
JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:87,647,598...87,782,944
Ensembl chr14:87,654,075...87,782,940
JBrowse link
G Thsd1 thrombospondin, type I, domain 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350
JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,835,675...61,847,736
Ensembl chr14:61,835,696...61,843,395
JBrowse link
G Uchl3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,891,387...101,933,561
Ensembl chr14:101,891,403...101,933,561
JBrowse link
G Vps36 vacuolar protein sorting 36 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,682,849...22,710,969
Ensembl chr 8:22,682,825...22,710,859
JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:63,075,110...63,198,958
Ensembl chr14:63,075,127...63,198,958
JBrowse link
chromosome 15q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apba2 amyloid beta precursor protein binding family A member 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:64,151,444...64,403,620
Ensembl chr 7:64,151,454...64,403,626
JBrowse link
G Atp10a ATPase, class V, type 10A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:58,305,896...58,479,783
Ensembl chr 7:58,305,914...58,479,168
JBrowse link
G Auts2 autism susceptibility candidate 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25205402 PMID:25741868 PMID:28505103 NCBI chr 5:131,466,171...132,572,059
Ensembl chr 5:131,466,171...132,572,183
JBrowse link
G Ccdc92b coiled-coil domain containing 92B ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr11:74,510,428...74,532,342
Ensembl chr11:74,510,431...74,532,342
JBrowse link
G Chrna7 cholinergic receptor, nicotinic, alpha polypeptide 7 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr 7:62,748,440...62,862,274
Ensembl chr 7:62,748,440...62,862,317
JBrowse link
G Cluh clustered mitochondria homolog ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr11:74,539,707...74,561,680
Ensembl chr11:74,540,321...74,561,673
JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 7:55,491,556...55,582,381
Ensembl chr 7:55,491,493...55,582,350
JBrowse link
G Entrep2 endosomal transmembrane epsin interactor 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:64,405,839...64,806,276
Ensembl chr 7:64,405,839...64,806,318
JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:57,057,417...57,240,808
Ensembl chr 7:57,057,420...57,159,807
JBrowse link
G Gabrb3 GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:57,240,266...57,478,550
Ensembl chr 7:57,069,440...57,478,550
JBrowse link
G Gabrg3 gamma-aminobutyric acid type A receptor, subunit gamma 3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:56,366,211...57,037,173
Ensembl chr 7:56,366,213...57,036,936
JBrowse link
G Gm22046 predicted gene, 22046 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:59,398,704...59,398,797
Ensembl chr 7:59,398,704...59,398,797
JBrowse link
G Gm22496 predicted gene, 22496 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:58,997,085...58,997,172
Ensembl chr 7:58,997,085...58,997,172
JBrowse link
G Gm23471 predicted gene, 23471 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:59,084,025...59,084,103
Ensembl chr 7:59,084,025...59,084,103
JBrowse link
G Gm26504 predicted gene, 26504 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:59,325,738...59,325,827
Ensembl chr 7:59,325,736...59,325,829
JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:55,699,872...55,884,373
Ensembl chr 7:55,699,944...55,881,548
JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:62,026,727...62,031,388
Ensembl chr 7:62,026,758...62,031,388
JBrowse link
G Mkrn3 makorin, ring finger protein, 3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:62,067,341...62,069,901
Ensembl chr 7:62,067,341...62,069,887
JBrowse link
G Ndn necdin, MAGE family member ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:61,998,025...61,999,676
Ensembl chr 7:61,996,317...62,000,010
JBrowse link
G Nipa1 non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human) ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 7:55,628,232...55,669,348
Ensembl chr 7:55,627,315...55,669,702
JBrowse link
G Nipa2 non imprinted in Prader-Willi/Angelman syndrome 2 homolog (human) ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 7:55,581,014...55,612,241
Ensembl chr 7:55,581,035...55,612,224
JBrowse link
G Nsmce3 NSE3 homolog, SMC5-SMC6 complex component ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:64,521,430...64,522,788
Ensembl chr 7:64,516,800...64,522,745
JBrowse link
G Oca2 oculocutaneous albinism II ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:55,889,341...56,186,266
Ensembl chr 7:55,889,508...56,186,266
JBrowse link
G Otud7a OTU domain containing 7A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr 7:63,094,493...63,415,980
Ensembl chr 7:63,094,499...63,408,776
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr11:74,564,775...74,615,210
Ensembl chr11:74,564,775...74,615,496
JBrowse link
G Rap1gap2 RAP1 GTPase activating protein 2 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr11:74,274,182...74,501,796
Ensembl chr11:74,274,182...74,501,741
JBrowse link
G Snhg14 small nucleolar RNA host gene 14 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:58,922,485...60,099,925 JBrowse link
G Snord107 small nucleolar RNA, C/D box 107 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:59,630,624...59,630,693
Ensembl chr 7:59,630,624...59,630,693
JBrowse link
G Snord64 small nucleolar RNA, C/D box 64 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:59,628,559...59,628,604
Ensembl chr 7:59,628,556...59,628,622
JBrowse link
G Snrpn small nuclear ribonucleoprotein N ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:59,632,243...60,099,925
Ensembl chr 7:59,632,243...59,789,967
JBrowse link
G Snurf SNRPN upstream reading frame ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:59,632,243...59,654,947
Ensembl chr 7:59,623,897...59,654,812
Ensembl chr 7:59,623,897...59,654,812
JBrowse link
G Tjp1 tight junction protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:64,945,913...65,177,629
Ensembl chr 7:64,945,913...65,177,529
JBrowse link
G Tubgcp5 tubulin, gamma complex component 5 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 7:55,443,873...55,481,207
Ensembl chr 7:55,443,902...55,481,425
JBrowse link
G Ube3a ubiquitin protein ligase E3A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:58,871,891...58,960,585
Ensembl chr 7:58,878,498...58,961,284
JBrowse link
chromosome 15q13.3 microdeletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor, nicotinic, alpha polypeptide 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome
CTD
ClinVar
PMID:31690835 NCBI chr 7:62,748,440...62,862,274
Ensembl chr 7:62,748,440...62,862,317
JBrowse link
G Fan1 FANCD2/FANCI-associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 7:63,994,627...64,023,874
Ensembl chr 7:63,996,506...64,023,843
JBrowse link
G Klf13 Kruppel-like transcription factor 13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome
CTD
ClinVar
PMID:31690835 NCBI chr 7:63,536,099...63,588,663
Ensembl chr 7:63,536,099...63,588,663
JBrowse link
G Mir211 microRNA 211 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 7:63,855,554...63,855,659
Ensembl chr 7:63,855,554...63,855,659
JBrowse link
G Mtmr10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 7:63,937,418...63,990,554
Ensembl chr 7:63,937,401...63,990,554
JBrowse link
G Otud7a OTU domain containing 7A IAGP
ISO
OMIM:612001
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome
MouseDO
ClinVar
PMID:31690835 NCBI chr 7:63,094,493...63,415,980
Ensembl chr 7:63,094,499...63,408,776
JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 7:63,803,583...63,923,630
Ensembl chr 7:63,803,583...63,919,523
JBrowse link
chromosome 15q24 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cimap1c ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 9:56,755,940...56,779,199
Ensembl chr 9:56,755,943...56,771,963
JBrowse link
G Commd4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 9:57,062,319...57,065,633
Ensembl chr 9:57,062,319...57,065,615
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 9:56,772,388...56,807,154
Ensembl chr 9:56,772,317...56,807,154
JBrowse link
G Imp3 IMP3, U3 small nucleolar ribonucleoprotein ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 9:56,844,784...56,845,682
Ensembl chr 9:56,844,759...56,845,682
JBrowse link
G Man2c1 mannosidase, alpha, class 2C, member 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 9:57,037,953...57,049,497
Ensembl chr 9:57,037,974...57,050,006
JBrowse link
G Neil1 nei endonuclease VIII-like 1 (E. coli) ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 9:57,050,072...57,055,973
Ensembl chr 9:57,050,084...57,055,589
JBrowse link
G Ptpn9 protein tyrosine phosphatase, non-receptor type 9 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 9:56,902,252...56,970,092
Ensembl chr 9:56,902,207...56,970,091
JBrowse link
G Sin3a transcriptional regulator, SIN3A (yeast) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome | ClinVar Annotator: match by term: SIN3A-related intellectual disability syndrome | ClinVar Annotator: match by term: Witteveen-kolk syndrome
OMIM
CTD
ClinVar
PMID:18755302 PMID:19557438 PMID:21681106 PMID:25741868 PMID:27399968 More... NCBI chr 9:56,979,271...57,035,652
Ensembl chr 9:56,979,324...57,035,650
JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 9:56,855,158...56,893,545
Ensembl chr 9:56,858,162...56,890,490
JBrowse link
G Snx33 sorting nexin 33 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 9:56,824,472...56,835,726
Ensembl chr 9:56,824,477...56,835,655
JBrowse link
chromosome 15q26-qter deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,487,387...66,802,373
Ensembl chr 7:66,489,483...66,802,919
JBrowse link
G Aldh1a3 aldehyde dehydrogenase family 1, subfamily A3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,040,640...66,077,225
Ensembl chr 7:66,040,638...66,077,265
JBrowse link
G Asb7 ankyrin repeat and SOCS box-containing 7 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,294,220...66,339,601
Ensembl chr 7:66,294,313...66,339,344
JBrowse link
G Cers3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,382,864...66,473,440
Ensembl chr 7:66,393,252...66,473,439
JBrowse link
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:65,759,240...65,823,546
Ensembl chr 7:65,759,263...65,823,546
JBrowse link
G Igf1r insulin-like growth factor I receptor ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
JBrowse link
G Lins1 lines homolog 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,339,565...66,367,004
Ensembl chr 7:66,339,637...66,367,004
JBrowse link
G Lrrc28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:67,163,158...67,295,084
Ensembl chr 7:67,163,158...67,295,016
JBrowse link
G Lrrk1 leucine-rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:65,908,493...66,038,089
Ensembl chr 7:65,876,660...66,038,098
JBrowse link
G Lysmd4 LysM, putative peptidoglycan-binding, domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,872,292...66,878,216
Ensembl chr 7:66,872,292...66,957,078
JBrowse link
G Mef2a myocyte enhancer factor 2A ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,880,911...67,026,435
Ensembl chr 7:66,880,911...67,022,606
JBrowse link
G Pgpep1l pyroglutamyl-peptidase I-like ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:67,881,154...67,914,232
Ensembl chr 7:67,886,358...67,913,981
JBrowse link
G Synm synemin, intermediate filament protein ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:67,379,909...67,409,490
Ensembl chr 7:67,379,908...67,409,490
JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:67,295,180...67,378,370
Ensembl chr 7:67,297,158...67,412,660
JBrowse link
chromosome 16p11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930451I11Rik RIKEN cDNA 4930451I11 gene ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,429,640...126,430,712
Ensembl chr 7:126,429,640...126,430,811
JBrowse link
G AI467606 expressed sequence AI467606 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,689,952...126,693,221
Ensembl chr 7:126,690,531...126,693,158
JBrowse link
G Aldoa aldolase A, fructose-bisphosphate ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr 7:126,394,406...126,399,537
Ensembl chr 7:126,394,406...126,399,923
Ensembl chr 7:126,394,406...126,399,923
JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,545,159...126,548,754
Ensembl chr 7:126,544,739...126,548,754
JBrowse link
G Atp2a1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:126,045,032...126,062,245
Ensembl chr 7:126,045,030...126,062,280
JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:126,090,880...126,106,991
Ensembl chr 7:126,090,880...126,102,609
JBrowse link
G Bola2 bolA family member 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar NCBI chr 7:126,295,172...126,295,865
Ensembl chr 7:126,294,573...126,298,970
JBrowse link
G Cd19 CD19 antigen ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061
JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,575,630...126,579,671
Ensembl chr 7:126,575,086...126,579,673
JBrowse link
G Cdiptos CDIP transferase, opposite strand ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr 7:126,571,792...126,575,575
Ensembl chr 7:126,570,894...126,575,270
JBrowse link
G Coro1a coronin, actin binding protein 1A ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,298,946...126,303,925
Ensembl chr 7:126,298,945...126,306,959
JBrowse link
G Doc2a double C2, alpha ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,446,525...126,451,877
Ensembl chr 7:126,446,588...126,451,877
JBrowse link
G Eif3c eukaryotic translation initiation factor 3, subunit C ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 7:126,146,083...126,165,538
Ensembl chr 7:126,145,627...126,165,583
JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,365,586...126,374,817
Ensembl chr 7:126,365,506...126,374,821
JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,461,155...126,464,549
Ensembl chr 7:126,461,144...126,464,549
JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,450,756...126,461,544
Ensembl chr 7:126,450,132...126,461,549
JBrowse link
G Kctd13 potassium channel tetramerisation domain containing 13 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,528,051...126,544,781
Ensembl chr 7:126,528,051...126,544,803
JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,626,901...126,641,639
Ensembl chr 7:126,626,901...126,641,643
JBrowse link
G Lat linker for activation of T cells ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:125,962,999...125,968,877
Ensembl chr 7:125,962,996...125,968,742
JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
JBrowse link
G Maz MYC-associated zinc finger protein (purine-binding transcription factor) ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,621,306...126,626,177
Ensembl chr 7:126,621,302...126,626,209
JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,586,032...126,613,766
Ensembl chr 7:126,586,032...126,613,793
JBrowse link
G Nfatc2ip nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2 interacting protein ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:125,982,025...125,995,909
Ensembl chr 7:125,982,026...125,995,909
JBrowse link
G Pagr1a PAXIP1 associated glutamate rich protein 1A ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,614,223...126,616,524
Ensembl chr 7:126,614,205...126,616,524
Ensembl chr 7:126,614,205...126,616,524
JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,385,038...126,391,729
Ensembl chr 7:126,385,038...126,391,668
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,616,707...126,620,800
Ensembl chr 7:126,616,703...126,620,383
JBrowse link
G Qprt quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,706,942...126,721,201
Ensembl chr 7:126,706,286...126,721,398
JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:126,027,596...126,045,079
Ensembl chr 7:126,027,931...126,048,417
JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,549,665...126,569,782
Ensembl chr 7:126,549,735...126,569,778
JBrowse link
G Sftpa1 surfactant associated protein A1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409
JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:126,066,165...126,075,882
Ensembl chr 7:126,066,166...126,074,596
JBrowse link
G Slx1b SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae) ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 7:126,288,099...126,294,955
Ensembl chr 7:126,288,640...126,294,956
JBrowse link
G Spn sialophorin ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,731,404...126,743,785
Ensembl chr 7:126,731,404...126,736,995
JBrowse link
G Spns1 SPNS lysolipid transporter 1, lysophospholipid ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:125,969,232...125,977,179
Ensembl chr 7:125,969,232...125,976,622
JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,464,848...126,485,468
Ensembl chr 7:126,464,850...126,483,875
JBrowse link
G Tbx6 T-box 6 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732
JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,413,213...126,429,391
Ensembl chr 7:126,396,840...126,429,391
JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,485,391...126,527,993
Ensembl chr 7:126,485,343...126,522,089
JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 7:126,086,445...126,089,903
Ensembl chr 7:126,086,533...126,089,903
JBrowse link
G Ypel3 yippee like 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,376,135...126,379,682
Ensembl chr 7:126,376,127...126,379,686
JBrowse link
G Zg16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 7:126,649,328...126,651,847
Ensembl chr 7:126,649,328...126,686,500
JBrowse link
chromosome 16p12.1 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdr2 cerebellar degeneration-related 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 7:120,556,259...120,581,535
Ensembl chr 7:120,556,259...120,581,535
JBrowse link
G Eef2k eukaryotic elongation factor-2 kinase ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 7:120,442,080...120,506,441
Ensembl chr 7:120,442,054...120,506,673
JBrowse link
G Mosmo modulator of smoothened ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 7:120,276,825...120,334,077
Ensembl chr 7:120,276,841...120,334,077
JBrowse link
G Pdzd9 PDZ domain containing 9 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 7:120,258,126...120,276,785
Ensembl chr 7:120,257,954...120,269,566
JBrowse link
G Polr3e polymerase (RNA) III (DNA directed) polypeptide E ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 7:120,516,960...120,546,658
Ensembl chr 7:120,516,967...120,546,655
JBrowse link
G Sdr42e2 short chain dehydrogenase/reductase family 42E, member 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 7:120,408,853...120,431,122
Ensembl chr 7:120,411,588...120,430,416
JBrowse link
G Uqcrc2 ubiquinol cytochrome c reductase core protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 7:120,234,412...120,258,746
Ensembl chr 7:120,234,399...120,258,747
JBrowse link
G Vwa3a von Willebrand factor A domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 7:120,336,554...120,404,769
Ensembl chr 7:120,338,541...120,404,965
JBrowse link
chromosome 16q22 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933405L10Rik RIKEN cDNA 4933405L10 gene ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 8:106,434,921...106,436,877
Ensembl chr 8:106,434,287...106,436,878
JBrowse link
G Acd adrenocortical dysplasia ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 8:106,424,789...106,427,748
Ensembl chr 8:106,422,492...106,427,734
JBrowse link
G Carmil2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 8:106,412,642...106,424,827
Ensembl chr 8:106,412,906...106,424,819
JBrowse link
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 8:106,351,135...106,409,554
Ensembl chr 8:106,363,200...106,409,554
JBrowse link
G Enkd1 enkurin domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 8:106,430,281...106,435,358
Ensembl chr 8:106,430,283...106,434,842
JBrowse link
G Gfod2 glucose-fructose oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 8:106,440,676...106,485,299
Ensembl chr 8:106,440,486...106,485,296
JBrowse link
G Pard6a par-6 family cell polarity regulator alpha ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 8:106,427,780...106,430,126
Ensembl chr 8:106,427,780...106,430,128
JBrowse link
G Ranbp10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 8:106,494,940...106,560,463
Ensembl chr 8:106,494,940...106,553,982
JBrowse link
Chromosome 17 Deletion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544363 PMID:22544367 NCBI chr11:104,224,327...104,360,584
Ensembl chr11:104,224,055...104,359,687
JBrowse link
G Trp53 transformation related protein 53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14961032 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD
ClinVar
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr11:80,074,652...80,090,581
Ensembl chr11:80,074,677...80,090,583
JBrowse link
chromosome 17q12 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aatf apoptosis antagonizing transcription factor ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:84,313,682...84,404,433
Ensembl chr11:84,313,681...84,404,348
JBrowse link
G Acaca acetyl-Coenzyme A carboxylase alpha ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:84,020,461...84,292,477
Ensembl chr11:84,020,498...84,292,477
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509
JBrowse link
G Ddx52 DExD box helicase 52 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:83,831,659...83,853,914
Ensembl chr11:83,832,888...83,853,914
JBrowse link
G Dhrs11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:84,711,547...84,719,880
Ensembl chr11:84,711,682...84,719,820
JBrowse link
G Dusp14 dual specificity phosphatase 14 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:83,938,859...83,960,016
Ensembl chr11:83,938,867...83,960,087
JBrowse link
G Ggnbp2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:84,723,187...84,761,668
Ensembl chr11:84,723,187...84,761,643
JBrowse link
G Gm11437 predicted gene 11437 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:84,039,187...84,058,302
Ensembl chr11:84,039,177...84,058,302
JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:83,741,035...83,796,743
Ensembl chr11:83,740,889...83,796,645
JBrowse link
G Lhx1 LIM homeobox protein 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:84,408,801...84,416,360
Ensembl chr11:84,409,110...84,416,361
JBrowse link
G Mrm1 mitochondrial rRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:84,703,887...84,710,341
Ensembl chr11:84,703,887...84,710,341
JBrowse link
G Mrpl45 mitochondrial ribosomal protein L45 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr11:97,205,749...97,220,746
Ensembl chr11:97,206,542...97,220,746
JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:84,770,996...84,802,052
Ensembl chr11:84,770,974...84,802,052
JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:84,767,139...84,771,111
Ensembl chr11:84,767,141...84,771,111
JBrowse link
G Synrg synergin, gamma ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:83,855,217...83,935,404
Ensembl chr11:83,855,254...83,935,404
JBrowse link
G Tada2a transcriptional adaptor 2A ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:83,969,746...84,020,466
Ensembl chr11:83,969,746...84,020,426
JBrowse link
G Znhit3 zinc finger, HIT type 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr11:84,801,776...84,807,192
Ensembl chr11:84,801,776...84,807,192
JBrowse link
chromosome 18p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3-like AAA ATPase 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,537,830...67,582,277
Ensembl chr18:67,537,834...67,582,242
JBrowse link
G Akain1 A kinase anchor inhibitor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:69,744,906...69,796,228
Ensembl chr17:69,746,321...69,796,228
JBrowse link
G Ankrd12 ankyrin repeat domain 12 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:66,272,698...66,386,242
Ensembl chr17:66,272,693...66,384,084
JBrowse link
G Apcdd1 adenomatosis polyposis coli down-regulated 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:63,055,398...63,086,886
Ensembl chr18:63,055,302...63,094,250
JBrowse link
G Arhgap28 Rho GTPase activating protein 28 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:68,149,701...68,311,185
Ensembl chr17:68,149,708...68,311,115
JBrowse link
G Cep192 centrosomal protein 192 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,933,124...68,018,241
Ensembl chr18:67,933,177...68,018,241
JBrowse link
G Cep76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,750,034...67,774,425
Ensembl chr18:67,750,870...67,774,406
JBrowse link
G Chmp1b charged multivesicular body protein 1B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,338,430...67,340,958
Ensembl chr18:67,338,437...67,340,960
JBrowse link
G Cidea cell death-inducing DNA fragmentation factor, alpha subunit-like effector A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,476,634...67,500,864
Ensembl chr18:67,476,674...67,500,855
JBrowse link
G Dlgap1 DLG associated protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:70,276,068...71,128,408
Ensembl chr17:70,276,068...71,128,408
JBrowse link
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:71,559,167...71,618,551
Ensembl chr17:71,559,167...71,618,973
JBrowse link
G Epb41l3 erythrocyte membrane protein band 4.1 like 3 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:69,382,642...69,596,986
Ensembl chr17:69,382,678...69,596,984
JBrowse link
G Fam210a family with sequence similarity 210, member A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:68,393,248...68,433,404
Ensembl chr18:68,393,258...68,433,404
JBrowse link
G Gnal guanine nucleotide binding protein, alpha stimulating, olfactory type ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,221,369...67,359,863
Ensembl chr18:67,221,287...67,359,863
JBrowse link
G Impa2 inositol monophosphatase 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,422,246...67,454,375
Ensembl chr18:67,422,256...67,455,542
JBrowse link
G L3mbtl4 L3MBTL4 histone methyl-lysine binding protein ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:68,579,893...69,091,073
Ensembl chr17:68,580,792...69,087,081
JBrowse link
G Lama1 laminin, alpha 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:68,004,129...68,129,640
Ensembl chr17:68,004,254...68,129,642
JBrowse link
G Ldlrad4 low density lipoprotein receptor class A domain containing 4 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:68,065,345...68,393,621
Ensembl chr18:68,066,328...68,401,701
JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:71,490,527...71,556,813
Ensembl chr17:71,489,555...71,556,812
JBrowse link
G Lrrc30 leucine rich repeat containing 30 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:67,937,960...67,939,718
Ensembl chr17:67,937,959...67,939,718
JBrowse link
G Mc2r melanocortin 2 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:68,539,970...68,562,391
Ensembl chr18:68,539,978...68,562,391
JBrowse link
G Mc5r melanocortin 5 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:68,469,811...68,475,517
Ensembl chr18:68,470,575...68,475,517
JBrowse link
G Mppe1 metallophosphoesterase 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,358,119...67,378,901
Ensembl chr18:67,358,114...67,378,901
JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:66,643,975...66,760,672
Ensembl chr17:66,643,977...66,756,745
JBrowse link
G Myl12a myosin, light chain 12A, regulatory, non-sarcomeric ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:71,300,788...71,309,528
Ensembl chr17:71,300,651...71,309,873
JBrowse link
G Myl12b myosin, light chain 12B, regulatory ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:71,280,958...71,297,511
Ensembl chr17:71,280,128...71,297,885
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:71,326,455...71,433,851
Ensembl chr17:71,309,628...71,433,851
JBrowse link
G Napg N-ethylmaleimide sensitive fusion protein attachment protein gamma ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:63,110,910...63,132,521
Ensembl chr18:63,110,902...63,132,521
JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:66,385,790...66,408,554
Ensembl chr17:66,385,633...66,408,554
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:63,143,284...63,520,787
Ensembl chr18:63,143,284...63,520,254
JBrowse link
G Ppp4r1 protein phosphatase 4, regulatory subunit 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:66,089,253...66,148,921
Ensembl chr17:66,089,568...66,148,921
JBrowse link
G Prelid3a PRELI domain containing 3A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,595,119...67,613,651
Ensembl chr18:67,597,936...67,612,905
JBrowse link
G Psmg2 proteasome (prosome, macropain) assembly chaperone 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,774,657...67,787,251
Ensembl chr18:67,774,669...67,787,232
JBrowse link
G Ptpn2 protein tyrosine phosphatase, non-receptor type 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,798,571...67,857,697
Ensembl chr18:67,798,581...67,857,665
JBrowse link
G Ptprm protein tyrosine phosphatase receptor type M ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:66,973,843...67,661,486
Ensembl chr17:66,973,942...67,661,452
JBrowse link
G Rab12 RAB12, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:66,801,507...66,826,712
Ensembl chr17:66,801,507...66,826,724
JBrowse link
G Rab31 RAB31, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:65,958,721...66,079,747
Ensembl chr17:65,958,724...66,079,747
JBrowse link
G Ralbp1 ralA binding protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:66,155,410...66,192,750
Ensembl chr17:66,155,413...66,192,793
JBrowse link
G Rnmt RNA (guanine-7-) methyltransferase ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:68,433,406...68,457,923
Ensembl chr18:68,433,426...68,457,923
JBrowse link
G Seh1l SEH1-like (S. cerevisiae ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,907,946...67,928,557
Ensembl chr18:67,907,946...67,928,557
JBrowse link
G Smchd1 SMC hinge domain containing 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:71,651,484...71,782,361
Ensembl chr17:71,651,484...71,782,338
JBrowse link
G Spire1 spire type actin nucleation factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,621,279...67,745,880
Ensembl chr18:67,621,279...67,743,860
JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:71,151,200...71,160,527
Ensembl chr17:71,151,200...71,160,541
JBrowse link
G Tmem200c transmembrane protein 200C ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:69,144,084...69,150,133
Ensembl chr17:69,133,618...69,150,134
JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,523,801...67,535,819
Ensembl chr18:67,523,787...67,535,819
JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:66,230,060...66,258,198
Ensembl chr17:66,228,967...66,258,221
JBrowse link
G Txndc2 thioredoxin domain containing 2 (spermatozoa) ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:65,944,498...65,955,871
Ensembl chr17:65,944,502...65,949,163
JBrowse link
G Vapa vesicle-associated membrane protein, associated protein A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:65,887,048...65,925,441
Ensembl chr17:65,885,322...65,920,550
JBrowse link
G Zbtb14 zinc finger and BTB domain containing 14 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr17:69,690,170...69,697,747
Ensembl chr17:69,690,045...69,698,194
JBrowse link
chromosome 18q deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:80,169,523...80,195,284
Ensembl chr18:80,169,526...80,194,697
JBrowse link
G Atp9b ATPase, class II, type 9B ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:80,777,356...80,977,291
Ensembl chr18:80,777,356...80,977,275
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
JBrowse link
G Cbln2 cerebellin 2 precursor protein ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:86,727,226...86,736,410
Ensembl chr18:86,729,235...86,736,408
JBrowse link
G Cd226 CD226 antigen ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:89,195,078...89,290,356
Ensembl chr18:89,195,091...89,290,353
JBrowse link
G Cdh19 cadherin 19, type 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:110,811,802...110,905,331
Ensembl chr 1:110,816,056...110,905,314
JBrowse link
G Cdh20 cadherin 20 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:104,696,242...104,923,206
Ensembl chr 1:104,696,254...104,923,206
JBrowse link
G Cdh7 cadherin 7, type 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:109,909,967...110,073,002
Ensembl chr 1:109,910,161...110,067,887
JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:84,628,509...84,668,359
Ensembl chr18:84,628,634...84,668,220
JBrowse link
G Cndp2 CNDP dipeptidase 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:84,685,590...84,703,827
Ensembl chr18:84,685,590...84,703,827
JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:80,451,174...80,522,959
Ensembl chr18:80,451,174...80,512,910
JBrowse link
G Cyb5a cytochrome b5 type A (microsomal) ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:84,869,463...84,897,996
Ensembl chr18:84,856,829...84,897,996
JBrowse link
G Dipk1c divergent protein kinase domain 1C ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:84,737,133...84,762,820
Ensembl chr18:84,737,361...84,758,561
JBrowse link
G Dok6 docking protein 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:89,310,547...89,787,664
Ensembl chr18:89,310,548...89,787,652
JBrowse link
G Dsel dermatan sulfate epimerase-like ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:111,786,431...111,792,782
Ensembl chr 1:111,786,432...111,792,648
JBrowse link
G Fbxo15 F-box protein 15 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:84,952,677...84,999,601
Ensembl chr18:84,952,907...84,999,598
JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:82,410,621...82,424,902
Ensembl chr18:82,410,505...82,424,902
JBrowse link
G Gm17266 predicted gene, 17266 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:84,813,104...84,856,766
Ensembl chr18:84,816,683...84,854,841
JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:80,272,154...80,293,329
Ensembl chr18:80,272,973...80,290,317
JBrowse link
G Kcng2 potassium voltage-gated channel, subfamily G, member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:80,337,731...80,407,469
Ensembl chr18:80,337,761...80,407,469
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:106,648,140...106,689,544
Ensembl chr 1:106,648,189...106,687,457
JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762
JBrowse link
G Mc4r melanocortin 4 receptor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 NCBI chr18:66,990,776...66,993,558
Ensembl chr18:66,990,775...66,993,577
JBrowse link
G Neto1 neuropilin (NRP) and tolloid (TLL)-like 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:86,411,110...86,524,482
Ensembl chr18:86,413,077...86,524,843
JBrowse link
G Nfatc1 nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:80,649,418...80,756,286
Ensembl chr18:80,649,420...80,756,286
JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:80,090,045...80,162,855
Ensembl chr18:80,090,105...80,162,854
JBrowse link
G Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:106,099,599...106,321,975
Ensembl chr 1:106,099,482...106,321,980
JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:105,446,147...105,591,466
Ensembl chr 1:105,446,147...105,591,402
JBrowse link
G Ptgr3 prostaglandin reductase 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:84,106,250...84,115,579
Ensembl chr18:84,106,188...84,115,653
JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:80,235,479...80,243,873
Ensembl chr18:80,235,480...80,243,873
JBrowse link
G Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:105,591,570...105,682,856
Ensembl chr 1:105,591,586...105,682,916
JBrowse link
G Rnf152 ring finger protein 152 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:105,204,642...105,284,665
Ensembl chr 1:105,204,639...105,284,435
JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:88,989,860...89,149,140
Ensembl chr18:88,989,914...89,149,140
JBrowse link
G Sall3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:81,010,204...81,030,236
Ensembl chr18:81,009,591...81,029,986
JBrowse link
G Serpinb10 serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 10 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:107,456,724...107,488,469
Ensembl chr 1:107,456,757...107,477,001
JBrowse link
G Serpinb11 serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 11 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:107,290,044...107,308,205
Ensembl chr 1:107,288,928...107,308,205
JBrowse link
G Serpinb12 serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 12 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:106,862,179...106,884,810
Ensembl chr 1:106,862,179...106,884,810
JBrowse link
G Serpinb13 serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 13 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:106,908,714...106,928,925
Ensembl chr 1:106,908,714...106,928,925
JBrowse link
G Serpinb2 serine (or cysteine) peptidase inhibitor, clade B, member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:107,439,153...107,453,330
Ensembl chr 1:107,439,153...107,463,208
JBrowse link
G Serpinb3a serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:106,973,317...106,980,033
Ensembl chr 1:106,973,317...106,980,033
JBrowse link
G Serpinb3d serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3D ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:107,005,893...107,011,210
Ensembl chr 1:107,005,897...107,011,236
JBrowse link
G Serpinb5 serine (or cysteine) peptidase inhibitor, clade B, member 5 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:106,788,905...106,811,078
Ensembl chr 1:106,788,903...106,811,078
JBrowse link
G Serpinb7 serine (or cysteine) peptidase inhibitor, clade B, member 7 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:107,350,418...107,380,419
Ensembl chr 1:107,327,385...107,380,419
JBrowse link
G Serpinb8 serine (or cysteine) peptidase inhibitor, clade B, member 8 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:107,517,668...107,536,708
Ensembl chr 1:107,517,736...107,538,214
JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:80,298,458...80,335,940
Ensembl chr18:80,296,507...80,335,940
JBrowse link
G Socs6 suppressor of cytokine signaling 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:88,883,293...88,912,623
Ensembl chr18:88,683,348...88,945,605
JBrowse link
G Timm21 translocase of inner mitochondrial membrane 21 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:84,964,316...84,970,168
Ensembl chr18:84,964,316...84,969,649
JBrowse link
G Tmx3 thioredoxin-related transmembrane protein 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:90,528,336...90,561,391
Ensembl chr18:90,528,278...90,561,391
JBrowse link
G Tnfrsf11a tumor necrosis factor receptor superfamily, member 11a, NFKB activator ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:105,708,443...105,777,172
Ensembl chr 1:105,708,443...105,775,709
JBrowse link
G Tshz1 teashirt zinc finger family member 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:84,029,752...84,105,833
Ensembl chr18:84,029,752...84,105,831
JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:80,250,041...80,269,066
Ensembl chr18:80,249,980...80,255,956
Ensembl chr18:80,249,980...80,255,956
JBrowse link
G Vps4b vacuolar protein sorting 4B ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:106,698,518...106,724,455
Ensembl chr 1:106,691,801...106,724,458
JBrowse link
G Zcchc2 zinc finger, CCHC domain containing 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:105,916,929...105,961,807
Ensembl chr 1:105,918,136...105,961,804
JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:82,611,718...82,711,044
Ensembl chr18:82,611,718...82,711,008
JBrowse link
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:84,225,826...84,612,815
Ensembl chr18:84,146,152...84,607,850
JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:82,925,324...83,023,439
Ensembl chr18:82,928,788...83,023,439
JBrowse link
chromosome 19q13.11 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba2 ubiquitin-like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome, distal ClinVar PMID:25741868 NCBI chr 7:33,840,121...33,868,014
Ensembl chr 7:33,840,113...33,869,024
JBrowse link
chromosome 1p36 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2510039O18Rik RIKEN cDNA 2510039O18 gene ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,023,849...148,031,773
Ensembl chr 4:148,025,352...148,031,771
JBrowse link
G 9430015G10Rik RIKEN cDNA 9430015G10 gene ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,194,455...156,211,720
Ensembl chr 4:156,194,439...156,211,722
JBrowse link
G A430005L14Rik RIKEN cDNA A430005L14 gene ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,041,694...154,046,382
Ensembl chr 4:154,041,694...154,046,382
JBrowse link
G Aadacl3 arylacetamide deacetylase like 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:144,180,341...144,190,326
Ensembl chr 4:144,180,341...144,190,326
JBrowse link
G Aadacl4 arylacetamide deacetylase like 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:144,340,277...144,349,968
Ensembl chr 4:144,340,277...144,349,968
JBrowse link
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,976,332...155,991,708
Ensembl chr 4:155,976,279...155,991,708
JBrowse link
G Acot7 acyl-CoA thioesterase 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,258,872...152,356,312
Ensembl chr 4:152,262,591...152,356,312
JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,750,885...154,752,324
Ensembl chr 4:154,750,890...154,752,324
JBrowse link
G Agmat agmatinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,473,986...141,486,574
Ensembl chr 4:141,473,983...141,486,574
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,249,747...156,281,997
Ensembl chr 4:156,249,747...156,281,945
JBrowse link
G Agtrap angiotensin II, type I receptor-associated protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,161,518...148,172,521
Ensembl chr 4:148,161,518...148,172,488
JBrowse link
G Ajap1 adherens junction associated protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:153,457,678...153,568,313
Ensembl chr 4:153,457,678...153,567,268
JBrowse link
G Akr7a5 aldo-keto reductase family 7, member A5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:139,038,005...139,046,097
Ensembl chr 4:139,038,055...139,045,737
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:139,348,404...139,377,002
Ensembl chr 4:139,350,177...139,377,001
JBrowse link
G Angptl7 angiopoietin-like 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,579,737...148,584,919
Ensembl chr 4:148,579,640...148,584,917
JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,875,432...155,884,132
Ensembl chr 4:155,874,896...155,877,659
JBrowse link
G Arhgef10l Rho guanine nucleotide exchange factor 10-like ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,241,796...140,393,318
Ensembl chr 4:140,241,796...140,393,323
JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,362,926...154,384,535
Ensembl chr 4:154,362,943...154,386,133
JBrowse link
G Arhgef19 Rho guanine nucleotide exchange factor 19 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,966,916...140,985,226
Ensembl chr 4:140,966,810...140,984,875
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,825,097...155,845,579
Ensembl chr 4:155,825,098...155,845,550
JBrowse link
G Atp13a2 ATPase type 13A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,711,812...140,734,641
Ensembl chr 4:140,714,184...140,734,641
JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,915,709...155,917,555
Ensembl chr 4:155,915,729...155,917,587
JBrowse link
G B3galt6 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,073,923...156,077,135
Ensembl chr 4:156,073,923...156,077,106
JBrowse link
G C1qtnf12 C1q and tumor necrosis factor related 12 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,046,769...156,051,086
Ensembl chr 4:156,046,775...156,051,086
JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:151,143,980...151,946,225
Ensembl chr 4:151,001,779...151,946,333
JBrowse link
G Capzb capping actin protein of muscle Z-line subunit beta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,920,210...139,019,131
Ensembl chr 4:138,920,210...139,019,129
JBrowse link
G Car6 carbonic anhydrase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:150,271,472...150,285,592
Ensembl chr 4:150,271,472...150,285,789
JBrowse link
G Casp9 caspase 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287
JBrowse link
G Casz1 castor zinc finger 1 IAGP
ISO
OMIM:607872
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome
MouseDO
ClinVar
NCBI chr 4:148,888,823...149,039,350
Ensembl chr 4:148,888,886...149,039,346
JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,111,101...154,127,202
Ensembl chr 4:154,111,096...154,127,134
JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,894,468...155,909,005
Ensembl chr 4:155,896,946...155,909,000
JBrowse link
G Cdk11b cyclin dependent kinase 11B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,709,293...155,734,392
Ensembl chr 4:155,709,311...155,734,395
JBrowse link
G Cela2a chymotrypsin-like elastase family, member 2A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,542,265...141,553,316
Ensembl chr 4:141,542,273...141,553,471
JBrowse link
G Cenps centromere protein S ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,212,806...149,222,057
Ensembl chr 4:149,211,578...149,222,086
JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,059,649...154,093,189
Ensembl chr 4:154,059,651...154,093,189
JBrowse link
G Cfap107 cilia and flagella associated protein 107 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:144,144,759...144,165,363
Ensembl chr 4:144,144,759...144,165,342
JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,493,647...155,551,280
Ensembl chr 4:155,493,647...155,551,280
JBrowse link
G Chd5 chromodomain helicase DNA binding protein 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,423,103...152,474,651
Ensembl chr 4:152,423,108...152,474,651
JBrowse link
G Clcn6 chloride channel, voltage-sensitive 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,088,716...148,123,270
Ensembl chr 4:148,088,716...148,123,278
JBrowse link
G Clcnka chloride channel, voltage-sensitive Ka ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,111,922...141,126,017
Ensembl chr 4:141,111,921...141,126,035
JBrowse link
G Clcnkb chloride channel, voltage-sensitive Kb ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,131,668...141,143,440
Ensembl chr 4:141,131,664...141,143,325
JBrowse link
G Clstn1 calsyntenin 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,670,536...149,733,356
Ensembl chr 4:149,670,925...149,733,356
JBrowse link
G Cort cortistatin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,209,491...149,211,220
Ensembl chr 4:149,209,491...149,211,220
JBrowse link
G Cplane2 ciliogenesis and planar polarity effector 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,941,249...140,947,425
Ensembl chr 4:140,941,267...140,954,067
JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,949,180...155,953,897
Ensembl chr 4:155,949,180...155,953,897
JBrowse link
G Crocc ciliary rootlet coiled-coil, rootletin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,743,948...140,787,927
Ensembl chr 4:140,743,948...140,787,861
JBrowse link
G Ctnnbip1 catenin beta interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,602,698...149,650,894
Ensembl chr 4:149,602,693...149,650,894
JBrowse link
G Ctrc chymotrypsin C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,565,550...141,573,598
Ensembl chr 4:141,565,550...141,573,670
JBrowse link
G Ddi2 DNA-damage inducible protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,410,874...141,450,730
Ensembl chr 4:141,404,860...141,450,730
JBrowse link
G Dffa DNA fragmentation factor, alpha subunit ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,188,599...149,205,110
Ensembl chr 4:149,188,603...149,205,104
JBrowse link
G Dffb DNA fragmentation factor, beta subunit ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,048,904...154,059,578
Ensembl chr 4:154,048,906...154,059,583
JBrowse link
G Dhrs3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:144,618,712...144,654,779
Ensembl chr 4:144,619,397...144,654,779
JBrowse link
G Disp3 dispatched RND transporter family member 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,320,890...148,372,653
Ensembl chr 4:148,324,721...148,372,422
JBrowse link
G Dnajc11 DnaJ heat shock protein family (Hsp40) member C11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,018,177...152,066,416
Ensembl chr 4:152,018,148...152,066,594
JBrowse link
G Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,487,498...141,518,255
Ensembl chr 4:141,487,500...141,518,242
JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,182,894...148,215,582
Ensembl chr 4:148,182,894...148,215,155
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,931,829...155,943,760
Ensembl chr 4:155,931,859...155,943,760
JBrowse link
G Efhd2 EF hand domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,585,453...141,602,231
Ensembl chr 4:141,585,453...141,602,231
JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:139,079,898...139,106,046
Ensembl chr 4:139,079,898...139,106,041
JBrowse link
G Eno1 enolase 1, alpha non-neuron ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:150,321,165...150,333,336
Ensembl chr 4:150,321,178...150,333,336
JBrowse link
G Epha2 Eph receptor A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,028,532...141,056,695
Ensembl chr 4:141,028,551...141,056,695
JBrowse link
G Errfi1 ERBB receptor feedback inhibitor 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:150,938,253...150,953,346
Ensembl chr 4:150,938,376...150,953,349
JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,204,788...152,236,871
Ensembl chr 4:152,204,788...152,236,828
JBrowse link
G Exosc10 exosome component 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,642,870...148,666,858
Ensembl chr 4:148,642,886...148,666,858
JBrowse link
G Faap20 Fanconi anemia core complex associated protein 20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,333,168...155,341,144
Ensembl chr 4:155,334,259...155,341,144
JBrowse link
G Fam131c family with sequence similarity 131, member C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,095,503...141,111,485
Ensembl chr 4:141,095,531...141,111,486
JBrowse link
G Fblim1 filamin binding LIM protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,303,373...141,333,351
Ensembl chr 4:141,303,373...141,333,407
JBrowse link
G Fbxo2 F-box protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,244,605...148,250,874
Ensembl chr 4:148,245,078...148,250,881
JBrowse link
G Fbxo42 F-box protein 42 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,875,216...140,931,373
Ensembl chr 4:140,875,224...140,931,373
JBrowse link
G Fbxo44 F-box protein 44 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,237,256...148,244,663
Ensembl chr 4:148,237,257...148,244,939
JBrowse link
G Fbxo6 F-box protein 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,230,173...148,236,592
Ensembl chr 4:148,230,173...148,236,597
JBrowse link
G Fhad1 forkhead-associated phosphopeptide binding domain 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,617,741...141,742,438
Ensembl chr 4:141,617,749...141,742,393
JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,778,799...155,780,942
Ensembl chr 4:155,778,799...155,780,938
JBrowse link
G Gabrd gamma-aminobutyric acid (GABA) A receptor, subunit delta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,469,436...155,482,549
Ensembl chr 4:155,469,437...155,482,569
JBrowse link
G Gm13201 predicted gene 13201 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,140,315...148,160,194
Ensembl chr 4:148,155,849...148,159,877
JBrowse link
G Gm17087 predicted gene 17087 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr17:8,784,489...8,785,858
Ensembl chr17:8,784,684...8,785,782
JBrowse link
G Gm572 predicted gene 572 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,727,774...148,761,562
Ensembl chr 4:148,727,774...148,756,029
JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), beta 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,575,757...155,643,726
Ensembl chr 4:155,575,818...155,643,726
JBrowse link
G Gpr153 G protein-coupled receptor 153 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,358,563...152,369,798
Ensembl chr 4:152,358,689...152,369,794
JBrowse link
G Gpr157 G protein-coupled receptor 157 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:150,171,960...150,190,457
Ensembl chr 4:150,171,822...150,190,384
JBrowse link
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:150,063,931...150,093,480
Ensembl chr 4:150,063,932...150,093,480
JBrowse link
G Hes2 hes family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,243,324...152,246,926
Ensembl chr 4:152,243,324...152,246,926
JBrowse link
G Hes3 hes family bHLH transcription factor 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,369,707...152,376,133
Ensembl chr 4:152,370,429...152,376,119
JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,042,358...155,046,829
Ensembl chr 4:155,045,380...155,046,828
JBrowse link
G Hspb7 heat shock protein family, member 7 (cardiovascular) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,148,090...141,152,621
Ensembl chr 4:141,148,090...141,152,622
JBrowse link
G Htr6 5-hydroxytryptamine (serotonin) receptor 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,787,017...138,802,881
Ensembl chr 4:138,788,419...138,802,881
JBrowse link
G Icmt isoprenylcysteine carboxyl methyltransferase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,381,671...152,391,583
Ensembl chr 4:152,381,684...152,391,578
JBrowse link
G Iffo2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:139,257,859...139,347,693
Ensembl chr 4:139,257,859...139,347,693
JBrowse link
G Igsf21 immunoglobulin superfamily, member 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:139,754,163...139,974,294
Ensembl chr 4:139,754,157...139,974,095
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,954,006...155,973,561
Ensembl chr 4:155,954,003...155,973,560
JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,283,881...156,285,275
Ensembl chr 4:156,283,912...156,285,253
JBrowse link
G Kazn kazrin, periplakin interacting protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:141,829,701...142,801,231
Ensembl chr 4:141,829,701...142,205,056
JBrowse link
G Kcnab2 potassium voltage-gated channel, shaker-related subfamily, beta member 2 IAGP
ISO
OMIM:607872
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome
MouseDO
ClinVar
NCBI chr 4:152,475,201...152,562,006
Ensembl chr 4:152,475,199...152,562,367
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,260,776...149,392,762
Ensembl chr 4:149,260,776...149,392,150
JBrowse link
G Klhdc7a kelch domain containing 7A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:139,689,484...139,695,337
Ensembl chr 4:139,687,531...139,695,337
JBrowse link
G Klhl17 kelch-like 17 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,313,501...156,319,314
Ensembl chr 4:156,313,792...156,319,314
JBrowse link
G Klhl21 kelch-like 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,093,348...152,102,134
Ensembl chr 4:152,093,260...152,102,137
JBrowse link
G Lrrc38 leucine rich repeat containing 38 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:143,076,242...143,097,602
Ensembl chr 4:143,076,327...143,097,602
JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,096,260...154,105,969
Ensembl chr 4:154,096,188...154,105,970
JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,569,642...149,581,952
Ensembl chr 4:149,569,686...149,581,125
JBrowse link
G Mad2l2 MAD2 mitotic arrest deficient-like 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,214,615...148,230,161
Ensembl chr 4:148,214,841...148,230,156
JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,679,079...148,699,939
Ensembl chr 4:148,687,011...148,699,956
JBrowse link
G Megf6 multiple EGF-like-domains 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,255,156...154,360,178
Ensembl chr 4:154,255,187...154,360,170
JBrowse link
G Mfap2 microfibrillar-associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,737,735...140,743,286
Ensembl chr 4:140,737,729...140,743,295
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161
JBrowse link
G Mib2 mindbomb E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,738,925...155,753,711
Ensembl chr 4:155,739,134...155,753,655
JBrowse link
G Micos10 mitochondrial contact site and cristae organizing system subunit 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,829,125...138,858,667
Ensembl chr 4:138,829,125...138,858,424
JBrowse link
G Miip migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:147,945,235...147,953,176
Ensembl chr 4:147,945,235...147,953,273
JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,139,353...156,139,442
Ensembl chr 4:156,139,353...156,139,442
JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,140,138...156,140,207
Ensembl chr 4:156,140,138...156,140,207
JBrowse link
G Mir34a microRNA 34a ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:150,152,911...150,153,012
Ensembl chr 4:150,152,911...150,153,012
JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,138,362...156,138,444
Ensembl chr 4:156,138,362...156,138,444
JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:154,954,042...154,979,987
Ensembl chr 4:154,954,042...154,979,985
JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,735,111...155,738,982
Ensembl chr 4:155,735,112...155,737,841
JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,167,771...155,229,964
Ensembl chr 4:155,171,034...155,229,962
JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,887,335...155,893,288
Ensembl chr 4:155,887,335...155,894,432
JBrowse link
G Mrto4 mRNA turnover 4, ribosome maturation factor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:139,074,751...139,079,887
Ensembl chr 4:139,074,746...139,079,887
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
JBrowse link
G Mxra8 matrix-remodelling associated 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,924,137...155,928,559
Ensembl chr 4:155,924,137...155,928,545
JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:155,646,838...155,675,458
Ensembl chr 4:155,646,835...155,675,458
JBrowse link
G Nbl1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,809,602...138,820,437
Ensembl chr 4:138,809,595...138,820,304
JBrowse link
G Necap2 NECAP endocytosis associated 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,793,823...140,805,672
Ensembl chr 4:140,793,823...140,805,668
JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,552,026...149,569,667
Ensembl chr 4:149,552,029...149,569,659
JBrowse link
G Noc2l NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,319,112...156,332,073
Ensembl chr 4:156,320,376...156,332,073
JBrowse link
G Nol9 nucleolar protein 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,123,731...152,145,951
Ensembl chr 4:152,123,778...152,145,951
JBrowse link
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,561,163...152,647,641
Ensembl chr 4:152,561,163...152,647,640
JBrowse link
G Nppa natriuretic peptide type A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536
JBrowse link
G Nppb natriuretic peptide type B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662
JBrowse link
G Otud3 OTU domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,618,374...138,641,322
Ensembl chr 4:138,622,690...138,641,256
JBrowse link
G Padi1 peptidyl arginine deiminase, type I ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,540,292...140,573,089
Ensembl chr 4:140,540,294...140,573,089
JBrowse link
G Padi2 peptidyl arginine deiminase, type II ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,633,648...140,679,897
Ensembl chr 4:140,633,655...140,679,897
JBrowse link
G Padi3 peptidyl arginine deiminase, type III ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,512,680...140,537,959
Ensembl chr 4:140,512,676...140,537,959
JBrowse link
G Padi4 peptidyl arginine deiminase, type IV ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,472,819...140,501,514
Ensembl chr 4:140,473,176...140,501,547
JBrowse link
G Padi6 peptidyl arginine deiminase, type VI ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:140,454,666...140,469,954
Ensembl chr 4:140,454,666...140,469,954
JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,048,580...155,065,395
Ensembl chr 4:155,048,580...155,065,395
JBrowse link
G Park7 Parkinson disease (autosomal recessive, early onset) 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:150,981,590...150,994,378
Ensembl chr 4:150,981,590...150,998,894
JBrowse link
G Pax7 paired box 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:139,464,357...139,560,841
Ensembl chr 4:139,464,373...139,560,839
JBrowse link
G Pdpn podoplanin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:142,993,979...143,026,134
Ensembl chr 4:142,994,001...143,026,134
JBrowse link
G Per3 period circadian clock 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:151,081,475...151,129,167
Ensembl chr 4:151,088,109...151,129,122
JBrowse link
G Perm1 PPARGC1 and ESRR induced regulator, muscle 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:156,287,724...156,305,766
Ensembl chr 4:156,300,325...156,305,764
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,151,487...155,156,863
Ensembl chr 4:155,151,473...155,156,890
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,044,992...149,184,300
Ensembl chr 4:149,044,992...149,184,333
JBrowse link
G Pgd phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,234,448...149,251,162
Ensembl chr 4:149,234,448...149,251,228
JBrowse link
G Phf13 PHD finger protein 13 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,074,088...152,080,636
Ensembl chr 4:152,074,090...152,080,715
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028
JBrowse link
G Pla2g2a phospholipase A2, group IIA (platelets, synovial fluid) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,559,168...138,562,500
Ensembl chr 4:138,559,171...138,562,497
JBrowse link
G Pla2g2c phospholipase A2, group IIC ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,452,636...138,471,886
Ensembl chr 4:138,452,103...138,473,443
JBrowse link
G Pla2g2d phospholipase A2, group IID ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,503,046...138,509,363
Ensembl chr 4:138,503,046...138,509,357
JBrowse link
G Pla2g2e phospholipase A2, group IIE ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,605,253...138,610,125
Ensembl chr 4:138,605,253...138,610,128
JBrowse link
G Pla2g2f phospholipase A2, group IIF ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,477,842...138,484,932
Ensembl chr 4:138,477,844...138,484,937
JBrowse link
G Pla2g5 phospholipase A2, group V ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:138,526,558...138,590,780
Ensembl chr 4:138,526,555...138,590,793
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:155,067,572...155,148,548
Ensembl chr 4:155,067,572...155,141,241
JBrowse link
G Plekhg5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 4:152,156,890...152,199,855
Ensembl chr 4:152,156,955...152,199,857
JBrowse link