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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 Aldoa aldolase, fructose-bisphosphate A 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 chrNW_004936501:12,418,090...12,423,959
Ensembl chrNW_004936501:12,418,090...12,422,689
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 chrNW_004936501:12,557,551...12,561,896
Ensembl chrNW_004936501:12,553,403...12,561,938
JBrowse link
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chrNW_004936501:11,818,301...11,836,221
Ensembl chrNW_004936501:11,816,585...11,836,231
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 chrNW_004936501:11,865,796...11,875,215
Ensembl chrNW_004936501:11,865,778...11,874,978
JBrowse link
G Bola2b bolA family member 2B ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936501:12,335,330...12,335,941 JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chrNW_004936501:11,793,903...11,807,410
Ensembl chrNW_004936501:11,793,891...11,804,162
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 chrNW_004936501:12,590,373...12,592,724
Ensembl chrNW_004936501:12,590,373...12,593,419
JBrowse link
G Coro1a coronin 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 chrNW_004936501:12,338,542...12,344,236
Ensembl chrNW_004936501:12,338,542...12,344,265
JBrowse link
G CUNH16orf54 chromosome unknown C16orf54 homolog 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 chrNW_004936501:12,723,922...12,726,482
Ensembl chrNW_004936501:12,723,815...12,726,560
JBrowse link
G CUNH16orf92 chromosome unknown C16orf92 homolog 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 chrNW_004936501:12,450,902...12,452,169
Ensembl chrNW_004936501:12,451,173...12,451,964
JBrowse link
G Doc2a double C2 domain 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 chrNW_004936501:12,458,537...12,463,857
Ensembl chrNW_004936501:12,458,482...12,463,199
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 chrNW_004936501:12,391,204...12,397,877
Ensembl chrNW_004936501:12,391,314...12,397,864
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 chrNW_004936501:12,472,399...12,475,646
Ensembl chrNW_004936501:12,472,844...12,475,426
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 chrNW_004936501:12,463,592...12,472,271
Ensembl chrNW_004936501:12,463,520...12,472,257
JBrowse link
G Kctd13 potassium channel tetramerization 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 chrNW_004936501:12,544,899...12,557,485
Ensembl chrNW_004936501:12,544,851...12,559,550
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 chrNW_004936501:12,670,717...12,683,999
Ensembl chrNW_004936501:12,670,172...12,684,571
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 chrNW_004936501:11,759,245...11,764,693
Ensembl chrNW_004936501:11,760,840...11,764,397
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 chrNW_004936501:12,342,670...12,390,650
Ensembl chrNW_004936501:12,384,804...12,392,180
JBrowse link
G Maz MYC associated zinc finger 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 chrNW_004936501:12,664,861...12,668,819 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 chrNW_004936501:12,598,907...12,610,306
Ensembl chrNW_004936501:12,599,036...12,655,910
JBrowse link
G Nfatc2ip nuclear factor of activated T cells 2 interacting protein ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chrNW_004936501:11,776,037...11,785,566
Ensembl chrNW_004936501:11,776,031...11,785,644
JBrowse link
G Pagr1 PAXIP1 associated glutamate rich protein 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 chrNW_004936501:12,657,092...12,660,106
Ensembl chrNW_004936501:12,656,435...12,660,067
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 chrNW_004936501:12,407,968...12,416,057
Ensembl chrNW_004936501:12,407,920...12,416,108
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 chrNW_004936501:12,660,181...12,663,788
Ensembl chrNW_004936501:12,659,905...12,663,110
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 chrNW_004936501:12,743,634...12,763,068
Ensembl chrNW_004936501:12,742,157...12,763,187
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 chrNW_004936501:11,807,369...11,818,350
Ensembl chrNW_004936501:11,806,836...11,817,838
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 chrNW_004936501:12,562,731...12,582,475
Ensembl chrNW_004936501:12,563,253...12,581,941
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 chrNW_004936501:11,840,227...11,849,742
Ensembl chrNW_004936501:11,840,190...11,848,780
JBrowse link
G Slx1a SLX1 homolog A, structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936501:12,332,135...12,335,081 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 chrNW_004936501:12,773,967...12,776,642 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 chrNW_004936501:11,765,236...11,772,403
Ensembl chrNW_004936501:11,764,295...11,772,409
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 chrNW_004936501:12,477,032...12,495,298
Ensembl chrNW_004936501:12,477,032...12,495,501
JBrowse link
G Tbx6 T-box transcription factor 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 chrNW_004936501:12,402,709...12,407,571
Ensembl chrNW_004936501:12,402,724...12,407,571
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 chrNW_004936501:12,435,058...12,450,961
Ensembl chrNW_004936501:12,435,051...12,450,675
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 chrNW_004936501:12,495,827...12,510,942
Ensembl chrNW_004936501:12,495,825...12,511,768
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 chrNW_004936501:11,859,558...11,863,689
Ensembl chrNW_004936501:11,859,552...11,865,747
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 chrNW_004936501:12,399,323...12,402,349
Ensembl chrNW_004936501:12,399,323...12,402,567
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 chrNW_004936501:12,699,197...12,700,697
Ensembl chrNW_004936501:12,699,200...12,700,979
JBrowse link
16Q24.3 Microdeletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:700,218...736,875
Ensembl chrNW_004936641:700,187...736,941
JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:569,002...661,935
Ensembl chrNW_004936641:627,398...661,137
JBrowse link
G Aprt adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:913,674...916,312
Ensembl chrNW_004936641:913,475...918,748
JBrowse link
G Banp BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:1,386,592...1,472,750
Ensembl chrNW_004936641:1,387,102...1,472,803
JBrowse link
G Ca5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:1,478,285...1,495,490
Ensembl chrNW_004936641:1,480,325...1,495,490
JBrowse link
G Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:857,483...875,527
Ensembl chrNW_004936641:810,074...875,534
JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:675,317...691,386
Ensembl chrNW_004936641:675,322...691,386
JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:916,695...925,411
Ensembl chrNW_004936641:917,435...920,981
JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:413,331...426,514
Ensembl chrNW_004936641:413,759...426,507
JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:980,493...986,015
Ensembl chrNW_004936641:980,533...984,506
JBrowse link
G CUNH16orf95 chromosome unknown C16orf95 homolog ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:1,843,874...1,850,488 JBrowse link
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:1,801,539...1,831,988
Ensembl chrNW_004936641:1,801,548...1,830,440
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:893,976...913,138
Ensembl chrNW_004936641:894,869...912,533
JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:1,045,636...1,047,567
Ensembl chrNW_004936641:1,046,380...1,047,567
JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:1,619,640...1,668,480
Ensembl chrNW_004936641:1,620,652...1,668,486
JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:1,572,814...1,613,454
Ensembl chrNW_004936641:1,572,785...1,614,534
JBrowse link
G LOC101967032 cytochrome b-245 light chain ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:1,036,967...1,044,954
Ensembl chrNW_004936641:1,036,967...1,044,991
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:1,030,465...1,035,967
Ensembl chrNW_004936641:1,030,595...1,035,954
JBrowse link
G Pabpn1l PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:880,548...883,098
Ensembl chrNW_004936641:880,548...883,098
JBrowse link
G Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:932,291...980,440
Ensembl chrNW_004936641:932,577...980,233
JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:987,476...994,535
Ensembl chrNW_004936641:990,568...993,498
JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:437,684...441,257
Ensembl chrNW_004936641:437,731...440,999
JBrowse link
G Slc22a31 solute carrier family 22 member 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:665,601...674,963 JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:1,513,110...1,538,955 JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:1,001,788...1,007,970
Ensembl chrNW_004936641:1,001,782...1,008,106
JBrowse link
G Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:887,034...889,435
Ensembl chrNW_004936641:883,292...889,414
JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:1,053,650...1,104,664
Ensembl chrNW_004936641:1,053,624...1,104,670
JBrowse link
G Zcchc14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:1,728,596...1,783,710
Ensembl chrNW_004936641:1,728,592...1,781,896
JBrowse link
G Zfpm1 zinc finger protein, FOG family member 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:1,130,073...1,162,022
Ensembl chrNW_004936641:1,130,446...1,138,473
JBrowse link
G Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chrNW_004936641:1,193,085...1,205,283 JBrowse link
1q24 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:9,823,790...9,847,291
Ensembl chrNW_004936481:9,824,392...9,847,104
JBrowse link
G Acbd6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:8,747,203...8,897,617
Ensembl chrNW_004936481:8,746,863...8,898,657
JBrowse link
G Angptl1 angiopoietin like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:10,048,439...10,071,035
Ensembl chrNW_004936481:10,048,475...10,071,134
JBrowse link
G Ankrd45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004936481:14,130,319...14,161,114
Ensembl chrNW_004936481:14,136,920...14,164,198
JBrowse link
G Astn1 astrotactin 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:11,461,091...11,743,376
Ensembl chrNW_004936481:11,461,009...11,743,386
JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:17,438,146...17,460,329
Ensembl chrNW_004936481:17,436,270...17,460,348
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:9,531,655...9,609,564 JBrowse link
G Blzf1 basic leucine zipper nuclear factor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:17,261,399...17,280,642
Ensembl chrNW_004936481:17,260,472...17,281,309
JBrowse link
G Brinp2 BMP/retinoic acid inducible neural specific 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:11,358,832...11,455,104
Ensembl chrNW_004936481:11,356,608...11,455,125
JBrowse link
G Cacna1e calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:7,694,960...7,908,683
Ensembl chrNW_004936481:7,702,152...7,993,263
JBrowse link
G Cacybp calcyclin binding protein ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004936481:13,198,744...13,203,518 JBrowse link
G Ccdc181 coiled-coil domain containing 181 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:17,235,194...17,250,718
Ensembl chrNW_004936481:17,237,558...17,250,718
JBrowse link
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004936481:14,052,816...14,063,066
Ensembl chrNW_004936481:14,052,810...14,064,101
JBrowse link
G Cep350 centrosomal protein 350 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:9,045,080...9,205,178
Ensembl chrNW_004936481:9,048,792...9,205,475
JBrowse link
G Cop1 COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:12,262,415...12,437,627
Ensembl chrNW_004936481:12,262,409...12,437,571
JBrowse link
G CUNH1orf105 chromosome unknown C1orf105 homolog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:14,936,108...14,962,504 JBrowse link
G Dars2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004936481:14,029,478...14,052,724
Ensembl chrNW_004936481:14,027,772...14,052,806
JBrowse link
G Dhx9 DExH-box helicase 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:6,896,487...6,934,938
Ensembl chrNW_004936481:6,896,359...6,935,623
JBrowse link
G Dnm3 dynamin 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:14,971,977...15,411,253
Ensembl chrNW_004936481:14,971,947...15,411,288
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:17,114,441...17,178,902
Ensembl chrNW_004936481:17,114,480...17,178,844
JBrowse link
G Fam163a family with sequence similarity 163 member A ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:9,307,340...9,367,572
Ensembl chrNW_004936481:9,304,594...9,312,661
JBrowse link
G Fam20b FAM20B glycosaminoglycan xylosylkinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:9,876,970...9,928,000
Ensembl chrNW_004936481:9,876,995...9,928,012
JBrowse link
G Faslg Fas ligand ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:14,789,547...14,795,780 JBrowse link
G Firrm FIGNL1 interacting regulator of recombination and mitosis ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:16,828,810...16,863,108
Ensembl chrNW_004936481:16,828,944...16,860,447
JBrowse link
G Fmo2 flavin containing dimethylaniline monoxygenase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:15,885,375...15,910,216
Ensembl chrNW_004936481:15,885,280...15,910,267
JBrowse link
G Fmo4 flavin containing dimethylaniline monoxygenase 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:15,737,491...15,767,344 JBrowse link
G Glul glutamate-ammonia ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:7,293,301...7,301,416
Ensembl chrNW_004936481:7,293,091...7,306,202
JBrowse link
G Gorab golgin, RAB6 interacting ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:16,332,442...16,350,822
Ensembl chrNW_004936481:16,332,439...16,350,825
JBrowse link
G Gpr52 G protein-coupled receptor 52 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004936481:13,588,705...13,593,018 JBrowse link
G Ier5 immediate early response 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:8,301,297...8,305,082 JBrowse link
G Kiaa0040 KIAA0040 ortholog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004936481:13,044,194...13,076,700 JBrowse link
G Kiaa1614 KIAA1614 ortholog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:8,410,621...8,446,382
Ensembl chrNW_004936481:8,410,141...8,444,167
JBrowse link
G Kifap3 kinesin associated protein 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:16,664,025...16,777,440
Ensembl chrNW_004936481:16,663,974...16,779,428
JBrowse link
G Klhl20 kelch like family member 20 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004936481:14,074,169...14,111,634
Ensembl chrNW_004936481:14,071,470...14,111,838
JBrowse link
G Lamc1 laminin subunit gamma 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:6,675,620...6,783,184
Ensembl chrNW_004936481:6,673,488...6,783,191
JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:6,588,797...6,647,167
Ensembl chrNW_004936481:6,588,865...6,647,188
JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:8,908,157...8,950,093
Ensembl chrNW_004936481:8,908,136...8,950,391
JBrowse link
G LOC101972633 major histocompatibility complex class I-related gene protein ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:8,325,918...8,347,941
Ensembl chrNW_004936481:8,327,690...8,347,960
JBrowse link
G LOC106144612 torsin-1A-interacting protein 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:9,266,527...9,280,289 JBrowse link
G Mettl13 methyltransferase 13, eEF1A N-terminus and K55 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:15,446,940...15,460,306
Ensembl chrNW_004936481:15,446,809...15,460,306
JBrowse link
G Mettl18 methyltransferase 18, RPL3 N3(tau)-histidine ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:16,863,048...16,865,619
Ensembl chrNW_004936481:16,864,478...16,865,575
JBrowse link
G Mroh9 maestro heat like repeat family member 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:16,007,155...16,057,502
Ensembl chrNW_004936481:16,007,209...16,051,687
JBrowse link
G Mrps14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004936481:13,192,030...13,195,812
Ensembl chrNW_004936481:13,192,021...13,195,806
JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:15,544,733...15,556,813
Ensembl chrNW_004936481:15,544,660...15,556,857
JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:6,300,894...6,325,878
Ensembl chrNW_004936481:6,301,012...6,324,787
JBrowse link
G Nme7 NME/NM23 family member 7 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:17,280,661...17,438,496
Ensembl chrNW_004936481:17,280,464...17,438,084
JBrowse link
G Nmnat2 nicotinamide nucleotide adenylyltransferase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:6,443,286...6,585,784
Ensembl chrNW_004936481:6,443,240...6,582,026
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:9,496,083...9,516,086
Ensembl chrNW_004936481:9,496,127...9,515,534
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:6,942,128...6,977,042
Ensembl chrNW_004936481:6,942,282...6,972,775
JBrowse link
G Ntmt2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:16,582,352...16,598,385
Ensembl chrNW_004936481:16,582,901...16,598,504
JBrowse link
G Pappa2 pappalysin 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:11,756,580...11,998,919
Ensembl chrNW_004936481:11,756,085...11,997,132
JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:14,962,572...14,964,929
Ensembl chrNW_004936481:14,962,613...14,964,861
JBrowse link
G Prdx6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004936481:14,223,422...14,233,634
Ensembl chrNW_004936481:14,222,696...14,233,641
JBrowse link
G Prrc2c proline rich coiled-coil 2C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:15,577,323...15,657,349
Ensembl chrNW_004936481:15,577,312...15,657,404
JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:16,208,243...16,272,836
Ensembl chrNW_004936481:16,205,240...16,272,850
JBrowse link
G Qsox1 quiescin sulfhydryl oxidase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:8,975,818...9,013,684
Ensembl chrNW_004936481:8,975,790...9,013,723
JBrowse link
G Rabgap1l RAB GTPase activating protein 1 like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004936481:13,213,465...13,771,188
Ensembl chrNW_004936481:13,218,553...13,749,173
JBrowse link
G Ralgps2 Ral GEF with PH domain and SH3 binding motif 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:10,002,132...10,130,577
Ensembl chrNW_004936481:10,007,336...10,130,414
JBrowse link
G Rasal2 RAS protein activator like 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:10,358,673...10,688,535
Ensembl chrNW_004936481:10,365,303...10,688,578
JBrowse link
G Rc3h1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004936481:13,919,006...13,973,868
Ensembl chrNW_004936481:13,919,257...13,966,677
JBrowse link
G Rgs16 regulator of G protein signaling 16 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:7,147,147...7,152,555
Ensembl chrNW_004936481:7,147,013...7,152,565
JBrowse link
G Rgs8 regulator of G protein signaling 8 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:7,077,345...7,115,350
Ensembl chrNW_004936481:7,077,330...7,110,747
JBrowse link
G Rgsl1 regulator of G protein signaling like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:7,190,038...7,231,768
Ensembl chrNW_004936481:7,190,346...7,221,180
JBrowse link
G Rnasel ribonuclease L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:7,165,400...7,177,342
Ensembl chrNW_004936481:7,165,353...7,177,538
JBrowse link
G Scyl3 SCY1 like pseudokinase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:16,796,044...16,828,809
Ensembl chrNW_004936481:16,800,286...16,828,194
JBrowse link
G Sec16b SEC16 homolog B, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:10,782,988...10,821,204
Ensembl chrNW_004936481:10,783,054...10,821,206
JBrowse link
G Sele selectin E ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:16,915,203...16,921,840
Ensembl chrNW_004936481:16,915,182...16,921,840
JBrowse link
G Sell selectin L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:17,022,421...17,032,105
Ensembl chrNW_004936481:17,022,580...17,032,124
JBrowse link
G Selp selectin P ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:17,076,660...17,112,501
Ensembl chrNW_004936481:17,076,536...17,107,963
JBrowse link
G Serpinc1 serpin family C member 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004936481:13,981,014...13,993,750
Ensembl chrNW_004936481:13,981,019...13,993,634
JBrowse link
G Shcbp1l SHC binding and spindle associated 1 like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:6,854,480...6,889,584
Ensembl chrNW_004936481:6,855,169...6,889,708
JBrowse link
G Slc19a2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:17,197,133...17,225,435
Ensembl chrNW_004936481:17,197,095...17,227,891
JBrowse link
G Slc9c2 solute carrier family 9 member C2 (putative) ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004936481:14,167,249...14,220,860 JBrowse link
G Smg7 SMG7 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:6,326,211...6,405,067
Ensembl chrNW_004936481:6,326,010...6,405,074
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:9,614,605...9,669,705
Ensembl chrNW_004936481:9,616,850...9,669,705
JBrowse link
G Stx6 syntaxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:8,362,059...8,405,228
Ensembl chrNW_004936481:8,362,050...8,399,737
JBrowse link
G Suco SUN domain containing ossification factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:14,823,622...14,892,312
Ensembl chrNW_004936481:14,823,253...14,892,318
JBrowse link
G Tdrd5 tudor domain containing 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:9,418,512...9,485,388
Ensembl chrNW_004936481:9,418,641...9,485,386
JBrowse link
G Tex35 testis expressed 35 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:10,327,845...10,338,508 JBrowse link
G Tnfsf18 TNF superfamily member 18 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004936481:14,499,495...14,508,074
Ensembl chrNW_004936481:14,499,577...14,508,017
JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004936481:14,391,359...14,409,514 JBrowse link
G Tnn tenascin N ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004936481:13,085,325...13,149,840
Ensembl chrNW_004936481:13,086,297...13,158,490
JBrowse link
G Tnr tenascin R ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004936481:12,586,460...12,972,348
Ensembl chrNW_004936481:12,787,536...12,965,327
JBrowse link
G Tor1aip1 torsin 1A interacting protein 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:9,234,379...9,261,961
Ensembl chrNW_004936481:9,232,588...9,262,563
JBrowse link
G Tor3a torsin family 3 member A ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:9,859,452...9,872,556
Ensembl chrNW_004936481:9,859,972...9,872,556
JBrowse link
G Vamp4 vesicle associated membrane protein 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936481:15,480,865...15,515,851
Ensembl chrNW_004936481:15,480,879...15,516,945
JBrowse link
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:8,462,714...8,601,824
Ensembl chrNW_004936481:8,462,714...8,602,185
JBrowse link
G Zbtb37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chrNW_004936481:13,986,826...14,020,854
Ensembl chrNW_004936481:14,009,281...14,021,139
JBrowse link
G Znf648 zinc finger protein 648 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chrNW_004936481:7,542,652...7,548,557
Ensembl chrNW_004936481:7,545,941...7,547,626
JBrowse link
22q11 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12223415 NCBI chrNW_004936600:4,004,847...4,010,626
Ensembl chrNW_004936600:4,004,824...4,010,689
JBrowse link
G Six1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chrNW_004936495:4,839,496...4,842,906
Ensembl chrNW_004936495:4,838,051...4,842,994
JBrowse link
G Tbx1 T-box transcription factor 1 ISO RGD PMID:16452092 RGD:155663362 NCBI chrNW_004936619:3,662,567...3,670,470
Ensembl chrNW_004936619:3,664,468...3,670,525
JBrowse link
3p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd28 ankyrin repeat domain 28 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:8,550,851...8,730,845
Ensembl chrNW_004936473:8,550,950...8,730,902
JBrowse link
G Capn7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:3,112,951...3,152,963
Ensembl chrNW_004936473:3,112,951...3,150,640
JBrowse link
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:360,048...374,960
Ensembl chrNW_004936602:360,604...374,952
JBrowse link
G Chchd4 coiled-coil-helix-coiled-coil-helix domain containing 4 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:93,126...99,695
Ensembl chrNW_004936602:93,123...95,810
JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:2,877,543...2,941,374
Ensembl chrNW_004936473:2,877,568...2,939,840
JBrowse link
G CUNH3orf20 chromosome unknown C3orf20 homolog ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:382,904...408,017
Ensembl chrNW_004936602:383,070...408,017
JBrowse link
G Dazl deleted in azoospermia like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:9,392,079...9,436,725 JBrowse link
G Dph3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:9,046,062...9,052,522 JBrowse link
G Eaf1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:2,950,321...2,963,560
Ensembl chrNW_004936473:2,949,692...2,963,554
JBrowse link
G Efhb EF-hand domain family member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:12,179,950...12,232,093 JBrowse link
G Fbln2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936898:112,687...148,686 JBrowse link
G Fgd5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:432,114...483,964
Ensembl chrNW_004936602:436,058...482,370
JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:8,974,884...9,016,222
Ensembl chrNW_004936473:8,975,948...9,016,228
JBrowse link
G Grip2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:276,964...334,942
Ensembl chrNW_004936602:278,252...314,720
JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:2,823,183...2,856,077
Ensembl chrNW_004936473:2,823,123...2,856,077
JBrowse link
G Hdac11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936898:148,891...177,471 JBrowse link
G Kat2b lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:12,341,545...12,415,637
Ensembl chrNW_004936473:12,344,343...12,417,875
JBrowse link
G Kcnh8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:11,615,877...11,954,377
Ensembl chrNW_004936473:11,616,090...11,953,811
JBrowse link
G LOC101961662 biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:2,787,386...2,823,014 JBrowse link
G Lsm3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:140,014...147,000
Ensembl chrNW_004936602:140,004...147,035
JBrowse link
G Mettl6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:2,963,591...2,984,827
Ensembl chrNW_004936473:2,963,466...2,985,634
JBrowse link
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:559,127...584,853
Ensembl chrNW_004936602:526,730...584,859
JBrowse link
G Nr2c2 nuclear receptor subfamily 2 group C member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:491,821...557,790
Ensembl chrNW_004936602:504,652...553,936
JBrowse link
G Nup210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936898:196,545...237,211
Ensembl chrNW_004936898:201,392...237,699
JBrowse link
G Oxnad1 oxidoreductase NAD binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:9,052,679...9,096,411
Ensembl chrNW_004936473:9,052,692...9,099,712
JBrowse link
G Plcl2 phospholipase C like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:9,628,612...9,801,713
Ensembl chrNW_004936473:9,627,811...9,802,132
JBrowse link
G Pp2d1 protein phosphatase 2C like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:12,267,353...12,291,505
Ensembl chrNW_004936473:12,267,538...12,285,582
JBrowse link
G Rab5a RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:12,238,226...12,267,339
Ensembl chrNW_004936473:12,238,156...12,269,089
JBrowse link
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:586,284...607,088
Ensembl chrNW_004936602:586,169...607,158
JBrowse link
G Rftn1 raftlin, lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:9,119,234...9,317,696
Ensembl chrNW_004936473:9,117,247...9,317,704
JBrowse link
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:10,906,059...11,001,007
Ensembl chrNW_004936473:10,904,989...11,001,051
JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chrNW_004936602:3,577,543...3,654,179
Ensembl chrNW_004936602:3,577,525...3,654,269
JBrowse link
G Sh3bp5 SH3 domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:3,103,878...3,110,435
Ensembl chrNW_004936473:3,038,963...3,109,174
JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:233,753...274,982 JBrowse link
G Tbc1d5 TBC1 domain family member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:9,868,657...10,294,554
Ensembl chrNW_004936473:9,868,430...10,188,484
JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chrNW_004936602:3,664,354...3,689,130
Ensembl chrNW_004936602:3,661,967...3,689,159
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:104,424...113,692
Ensembl chrNW_004936602:104,033...113,738
JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936898:45,903...70,313
Ensembl chrNW_004936898:45,115...70,326
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:118,173...139,884
Ensembl chrNW_004936602:118,188...139,675
JBrowse link
46,XY sex reversal 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: 46,XY sex reversal 10 ClinVar PMID:567843 PMID:6620326 PMID:22051515 PMID:25604083 NCBI chrNW_004936655:1,849,044...1,852,648
Ensembl chrNW_004936655:1,847,272...1,852,705
JBrowse link
46,XY sex reversal 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal 4 ClinVar PMID:25741868 NCBI chrNW_004936503:3,944,941...4,049,132
Ensembl chrNW_004936503:3,944,933...4,049,132
JBrowse link
autosomal dominant intellectual developmental disorder 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 | ClinVar Annotator: match by term: ZBTB18-Related Disorder OMIM
ClinVar
PMID:24193349 PMID:25741868 PMID:26740508 PMID:27598823 PMID:28135719 More... NCBI chrNW_004936526:6,706,035...6,714,011
Ensembl chrNW_004936526:6,705,983...6,712,281
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 chrNW_004936533:5,985,873...6,216,124
Ensembl chrNW_004936533:5,986,322...6,216,145
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 chrNW_004936533:5,952,529...5,980,889
Ensembl chrNW_004936533:5,957,971...5,982,075
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 chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,322,198...4,326,562
Ensembl chrNW_004936511:4,322,198...4,329,686
JBrowse link
G Alg11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,763,894...4,775,360
Ensembl chrNW_004936565:4,763,779...4,778,250
JBrowse link
G Arl11 ADP ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,686,783...2,687,377 JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,694,294...4,763,661
Ensembl chrNW_004936565:4,694,281...4,763,773
JBrowse link
G Bora BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,107,476...8,134,677
Ensembl chrNW_004936511:8,107,756...8,134,683
JBrowse link
G Cab39l calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,415,225...2,536,311
Ensembl chrNW_004936565:2,417,309...2,472,189
JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,336,613...2,395,816
Ensembl chrNW_004936565:2,336,744...2,387,195
JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,872,142...4,896,449
Ensembl chrNW_004936565:4,871,414...4,881,597
JBrowse link
G Cln5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,283,016...4,291,968
Ensembl chrNW_004936511:4,283,009...4,292,376
JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:599,703...624,821
Ensembl chrNW_004936667:599,711...624,999
JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,591,851...5,596,998
Ensembl chrNW_004936511:5,591,848...5,600,270
JBrowse link
G CUNH13orf42 chromosome unknown C13orf42 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:3,936,666...3,964,309
Ensembl chrNW_004936565:3,936,666...3,964,309
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,917,970...1,919,027 JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,899,245...9,253,024
Ensembl chrNW_004936511:9,061,676...9,253,486
JBrowse link
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936705:1,381,025...1,833,890
Ensembl chrNW_004936705:1,380,445...1,731,280
JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,082,909...8,105,203
Ensembl chrNW_004936511:8,082,406...8,108,233
JBrowse link
G Dleu7 deleted in lymphocytic leukemia 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:3,706,566...3,722,689
Ensembl chrNW_004936565:3,706,538...3,722,802
JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,706,788...2,731,453
Ensembl chrNW_004936565:2,706,788...2,731,453
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434
JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,058,280...4,106,803
Ensembl chrNW_004936565:4,080,867...4,105,740
JBrowse link
G Fbxl3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,259,066...4,280,501
Ensembl chrNW_004936511:4,258,548...4,283,285
JBrowse link
G Fndc3a fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,154,672...2,312,670
Ensembl chrNW_004936565:2,154,599...2,312,862
JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,198,659...4,282,443
Ensembl chrNW_004936565:4,199,195...4,282,443
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,535,570...1,557,667
Ensembl chrNW_004936565:1,535,779...1,557,013
JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,991,568...2,997,592
Ensembl chrNW_004936565:2,991,410...2,997,557
JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,389,558...4,395,630
Ensembl chrNW_004936511:4,389,755...4,390,738
JBrowse link
G Klf12 KLF transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:6,992,131...7,292,484
Ensembl chrNW_004936511:6,854,995...7,283,347
JBrowse link
G Klf5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:7,806,714...7,824,833
Ensembl chrNW_004936511:7,806,708...7,824,992
JBrowse link
G Klhl1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:10,511,200...10,879,121
Ensembl chrNW_004936511:10,511,192...10,879,146
JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,738,003...2,775,814
Ensembl chrNW_004936565:2,737,218...2,775,798
JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,292,737...5,501,374 JBrowse link
G LOC101972150 protocadherin-8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:716,802...721,441
Ensembl chrNW_004936667:716,625...721,503
JBrowse link
G LOC101978403 histone-lysine N-methyltransferase SETDB2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,536,623...2,607,824
Ensembl chrNW_004936565:2,591,305...2,606,130
Ensembl chrNW_004936565:2,591,305...2,606,130
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,688,218...1,689,876
Ensembl chrNW_004936565:1,688,314...1,689,348
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,397,434...1,414,674
Ensembl chrNW_004936565:1,396,088...1,415,248
JBrowse link
G Mlnr motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,321,799...2,326,871
Ensembl chrNW_004936565:2,323,966...2,328,535
JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,977,950...4,248,959
Ensembl chrNW_004936511:3,978,246...4,249,234
JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,134,607...8,149,923 JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,063,630...2,123,214
Ensembl chrNW_004936511:2,063,144...2,124,037
JBrowse link
G Nek3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,840,416...4,863,349
Ensembl chrNW_004936565:4,840,894...4,863,301
JBrowse link
G Nek5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,779,843...4,836,093
Ensembl chrNW_004936565:4,779,933...4,836,093
JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,380,981...1,389,908
Ensembl chrNW_004936565:1,381,655...1,389,048
JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,800,466...2,847,896
Ensembl chrNW_004936511:2,800,425...2,848,628
JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:905,556...923,105
Ensembl chrNW_004936667:907,473...922,291
JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936820:764,016...860,325
Ensembl chrNW_004936820:765,100...861,667
JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936705:326,349...332,242 JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936553:424,425...971,388
Ensembl chrNW_004936553:424,988...1,272,450
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:7,860,552...8,082,850
Ensembl chrNW_004936511:7,860,590...8,081,525
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,857,017...2,859,705
Ensembl chrNW_004936511:2,857,331...2,859,277
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846
JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,175,192...2,252,955
Ensembl chrNW_004936511:2,175,374...2,249,195
JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,608,788...2,649,992
Ensembl chrNW_004936565:2,608,792...2,650,604
JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,750,565...1,789,779
Ensembl chrNW_004936565:1,750,105...1,789,737
JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:3,791,305...3,839,991
Ensembl chrNW_004936565:3,791,329...3,840,016
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,696,150...3,794,031
Ensembl chrNW_004936511:3,694,543...3,794,086
JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,167,734...4,198,573
Ensembl chrNW_004936565:4,168,895...4,197,662
JBrowse link
G Slain1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,615,251...3,671,429
Ensembl chrNW_004936511:3,614,303...3,671,847
JBrowse link
G Slitrk1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936696:1,447,644...1,452,612
Ensembl chrNW_004936696:1,449,687...1,451,777
JBrowse link
G Slitrk6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936866:412,719...419,381
Ensembl chrNW_004936866:412,818...419,381
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:1,452,421...1,458,031 JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,911,523...2,939,151
Ensembl chrNW_004936565:2,908,169...2,939,232
JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,313,150...1,355,693
Ensembl chrNW_004936565:1,313,150...1,355,693
JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:556,555...588,585
Ensembl chrNW_004936667:556,533...588,160
JBrowse link
G Tbc1d4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,789,683...5,858,930
Ensembl chrNW_004936511:5,673,368...5,856,631
JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:11,258,898...11,348,522 JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,925,400...4,952,210
Ensembl chrNW_004936565:4,925,237...4,954,054
JBrowse link
G Tmem272 transmembrane protein 272 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar
G Trim13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,976,681...2,989,036
Ensembl chrNW_004936565:2,976,729...2,989,088
JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,524,425...5,581,156
Ensembl chrNW_004936511:5,522,965...5,581,334
JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,898,969...4,921,411 JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,375,012...4,527,259
Ensembl chrNW_004936565:4,375,462...4,520,691
JBrowse link
chromosome 15q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apba2 amyloid beta precursor protein binding family A member 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:1,062,971...1,315,059
Ensembl chrNW_004936483:1,250,152...1,315,088
JBrowse link
G Atp10a ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936471:40,868,114...40,976,707
Ensembl chrNW_004936471:40,782,793...40,976,524
JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25205402 PMID:25741868 PMID:28505103 NCBI chrNW_004936543:5,146,961...6,187,634 JBrowse link
G Ccdc92b coiled-coil domain containing 92B ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936538:8,728,805...8,749,231 JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chrNW_004937351:32,324...46,871
Ensembl chrNW_004937351:34,921...47,246
JBrowse link
G Cluh clustered mitochondria homolog ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936538:8,698,374...8,719,281
Ensembl chrNW_004936538:8,697,435...8,719,343
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 chrNW_004936471:38,264,455...38,331,995
Ensembl chrNW_004936471:38,267,703...38,332,218
JBrowse link
G Entrep2 endosomal transmembrane epsin interactor 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:1,316,542...1,424,463
Ensembl chrNW_004936483:1,319,684...1,722,353
JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936471:39,781,451...39,856,766
Ensembl chrNW_004936471:39,781,451...39,975,518
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936471:39,791,633...40,193,049
Ensembl chrNW_004936471:39,791,613...40,187,923
JBrowse link
G Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936471:39,184,683...39,256,439
Ensembl chrNW_004936471:39,185,702...39,751,187
JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936471:38,419,147...38,606,312
Ensembl chrNW_004936471:38,419,129...38,606,323
JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936805:882,296...886,442
Ensembl chrNW_004936805:882,273...886,475
JBrowse link
G Mkrn3 makorin ring finger protein 3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936805:933,791...936,023
Ensembl chrNW_004936805:933,725...936,043
JBrowse link
G Ndn necdin, MAGE family member ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936805:849,218...850,894
Ensembl chrNW_004936805:849,345...850,322
JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936471:38,363,521...38,403,647
Ensembl chrNW_004936471:38,364,940...38,407,314
JBrowse link
G Nipa2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936471:38,332,371...38,359,239 JBrowse link
G Nsmce3 NSE3 homolog, SMC5-SMC6 complex component ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:1,433,119...1,434,506
Ensembl chrNW_004936483:1,433,522...1,434,409
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936471:38,612,450...38,952,150
Ensembl chrNW_004936471:38,612,427...38,952,199
JBrowse link
G Otud7a OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chrNW_004936483:113,611...432,439
Ensembl chrNW_004936483:302,953...430,825
JBrowse link
G Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936538:8,612,142...8,693,698
Ensembl chrNW_004936538:8,612,049...8,694,015
JBrowse link
G Rap1gap2 RAP1 GTPase activating protein 2 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936538:8,755,379...8,977,432
Ensembl chrNW_004936538:8,755,359...8,971,886
JBrowse link
G Snrpn small nuclear ribonucleoprotein polypeptide N ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936805:86,244...91,074
Ensembl chrNW_004936805:85,051...94,547
JBrowse link
G Snurf SNRPN upstream open reading frame ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936805:88,553...105,497 JBrowse link
G Tjp1 tight junction protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:1,814,870...2,045,802
Ensembl chrNW_004936483:1,814,894...2,030,946
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 chrNW_004936471:38,180,670...38,215,972
Ensembl chrNW_004936471:38,181,252...38,216,306
JBrowse link
G Ube3a ubiquitin protein ligase E3A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936471:41,187,665...41,290,345
Ensembl chrNW_004936471:41,187,612...41,283,517
JBrowse link
chromosome 15q13.3 microdeletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004937351:32,324...46,871
Ensembl chrNW_004937351:34,921...47,246
JBrowse link
G Fan1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:916,377...949,833
Ensembl chrNW_004936483:912,346...949,833
JBrowse link
G Klf13 KLF transcription factor 13 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:477,490...575,143
Ensembl chrNW_004936483:532,736...575,237
JBrowse link
G Mtmr10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:863,667...915,579
Ensembl chrNW_004936483:863,639...916,843
JBrowse link
G Otud7a OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:113,611...432,439
Ensembl chrNW_004936483:302,953...430,825
JBrowse link
G Trpm1 transient receptor potential cation channel subfamily M member 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:723,784...856,839
Ensembl chrNW_004936483:724,018...858,855
JBrowse link
chromosome 15q24 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cimap1c ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chrNW_004936471:34,484,748...34,489,508
Ensembl chrNW_004936471:34,484,748...34,489,508
JBrowse link
G Commd4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chrNW_004936471:34,178,384...34,182,035
Ensembl chrNW_004936471:34,178,373...34,182,080
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chrNW_004936471:34,438,676...34,475,005
Ensembl chrNW_004936471:34,438,676...34,475,052
JBrowse link
G Imp3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chrNW_004936471:34,405,968...34,407,044
Ensembl chrNW_004936471:34,406,305...34,406,859
JBrowse link
G Man2c1 mannosidase alpha class 2C member 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chrNW_004936471:34,193,314...34,206,010
Ensembl chrNW_004936471:34,193,316...34,204,656
JBrowse link
G Neil1 nei like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chrNW_004936471:34,184,273...34,192,675
Ensembl chrNW_004936471:34,186,729...34,192,501
JBrowse link
G Ptpn9 protein tyrosine phosphatase non-receptor type 9 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chrNW_004936471:34,273,777...34,361,326
Ensembl chrNW_004936471:34,273,135...34,361,265
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome | ClinVar Annotator: match by term: SIN3A-related intellectual disability syndrome | ClinVar Annotator: match by term: Witteveen-kolk syndrome OMIM
ClinVar
PMID:18755302 PMID:19557438 PMID:21681106 PMID:25741868 PMID:27399968 More... NCBI chrNW_004936471:34,206,084...34,260,538
Ensembl chrNW_004936471:34,204,524...34,260,564
JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chrNW_004936471:34,373,492...34,393,666
Ensembl chrNW_004936471:34,373,468...34,393,692
JBrowse link
G Snx33 sorting nexin 33 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chrNW_004936471:34,414,086...34,425,236
Ensembl chrNW_004936471:34,414,474...34,428,784
JBrowse link
chromosome 15q26-qter deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:3,388,269...3,735,169
Ensembl chrNW_004936483:3,388,342...3,732,639
JBrowse link
G Aldh1a3 aldehyde dehydrogenase 1 family member A3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:2,930,781...2,967,309
Ensembl chrNW_004936483:2,930,789...2,967,346
JBrowse link
G Asb7 ankyrin repeat and SOCS box containing 7 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:3,165,577...3,205,878
Ensembl chrNW_004936483:3,168,137...3,205,880
JBrowse link
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:2,613,820...2,685,986
Ensembl chrNW_004936483:2,613,820...2,686,276
JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925
JBrowse link
G LOC101958833 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:3,276,519...3,365,054
Ensembl chrNW_004936483:3,206,110...3,229,939
Ensembl chrNW_004936483:3,206,110...3,229,939
JBrowse link
G Lrrc28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:4,131,900...4,264,019
Ensembl chrNW_004936483:4,131,749...4,264,012
JBrowse link
G Lrrk1 leucine rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:2,771,939...2,922,793
Ensembl chrNW_004936483:2,771,938...2,924,525
JBrowse link
G Lysmd4 LysM domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:3,819,427...3,824,449
Ensembl chrNW_004936483:3,819,381...3,824,128
JBrowse link
G Mef2a myocyte enhancer factor 2A ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:3,837,891...3,982,334
Ensembl chrNW_004936483:3,834,700...3,919,766
JBrowse link
G Synm synemin ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:4,362,891...4,388,558
Ensembl chrNW_004936483:4,365,508...4,389,180
JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:4,265,769...4,360,149
Ensembl chrNW_004936483:4,265,789...4,359,705
JBrowse link
chromosome 16p11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936501:12,418,090...12,423,959
Ensembl chrNW_004936501:12,418,090...12,422,689
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 chrNW_004936501:12,557,551...12,561,896
Ensembl chrNW_004936501:12,553,403...12,561,938
JBrowse link
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 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 chrNW_004936501:11,818,301...11,836,221
Ensembl chrNW_004936501:11,816,585...11,836,231
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 chrNW_004936501:11,865,796...11,875,215
Ensembl chrNW_004936501:11,865,778...11,874,978
JBrowse link
G Bola2b bolA family member 2B ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936501:12,335,330...12,335,941 JBrowse link
G Cd19 CD19 molecule 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 chrNW_004936501:11,793,903...11,807,410
Ensembl chrNW_004936501:11,793,891...11,804,162
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 chrNW_004936501:12,590,373...12,592,724
Ensembl chrNW_004936501:12,590,373...12,593,419
JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936501:12,338,542...12,344,236
Ensembl chrNW_004936501:12,338,542...12,344,265
JBrowse link
G CUNH16orf54 chromosome unknown C16orf54 homolog ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936501:12,723,922...12,726,482
Ensembl chrNW_004936501:12,723,815...12,726,560
JBrowse link
G CUNH16orf92 chromosome unknown C16orf92 homolog ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936501:12,450,902...12,452,169
Ensembl chrNW_004936501:12,451,173...12,451,964
JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936501:12,458,537...12,463,857
Ensembl chrNW_004936501:12,458,482...12,463,199
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 chrNW_004936501:12,391,204...12,397,877
Ensembl chrNW_004936501:12,391,314...12,397,864
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 chrNW_004936501:12,472,399...12,475,646
Ensembl chrNW_004936501:12,472,844...12,475,426
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 chrNW_004936501:12,463,592...12,472,271
Ensembl chrNW_004936501:12,463,520...12,472,257
JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936501:12,544,899...12,557,485
Ensembl chrNW_004936501:12,544,851...12,559,550
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 chrNW_004936501:12,670,717...12,683,999
Ensembl chrNW_004936501:12,670,172...12,684,571
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 chrNW_004936501:11,759,245...11,764,693
Ensembl chrNW_004936501:11,760,840...11,764,397
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 chrNW_004936501:12,342,670...12,390,650
Ensembl chrNW_004936501:12,384,804...12,392,180
JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936501:12,664,861...12,668,819 JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936501:12,598,907...12,610,306
Ensembl chrNW_004936501:12,599,036...12,655,910
JBrowse link
G Nfatc2ip nuclear factor of activated T cells 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 chrNW_004936501:11,776,037...11,785,566
Ensembl chrNW_004936501:11,776,031...11,785,644
JBrowse link
G Pagr1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936501:12,657,092...12,660,106
Ensembl chrNW_004936501:12,656,435...12,660,067
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 chrNW_004936501:12,407,968...12,416,057
Ensembl chrNW_004936501:12,407,920...12,416,108
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 chrNW_004936501:12,660,181...12,663,788
Ensembl chrNW_004936501:12,659,905...12,663,110
JBrowse link
G Qprt quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936501:12,743,634...12,763,068
Ensembl chrNW_004936501:12,742,157...12,763,187
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 chrNW_004936501:11,807,369...11,818,350
Ensembl chrNW_004936501:11,806,836...11,817,838
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 chrNW_004936501:12,562,731...12,582,475
Ensembl chrNW_004936501:12,563,253...12,581,941
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 chrNW_004936501:11,840,227...11,849,742
Ensembl chrNW_004936501:11,840,190...11,848,780
JBrowse link
G Slx1a SLX1 homolog A, structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936501:12,332,135...12,335,081 JBrowse link
G Spn sialophorin ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936501:12,773,967...12,776,642 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 chrNW_004936501:11,765,236...11,772,403
Ensembl chrNW_004936501:11,764,295...11,772,409
JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936501:12,477,032...12,495,298
Ensembl chrNW_004936501:12,477,032...12,495,501
JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936501:12,402,709...12,407,571
Ensembl chrNW_004936501:12,402,724...12,407,571
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 chrNW_004936501:12,435,058...12,450,961
Ensembl chrNW_004936501:12,435,051...12,450,675
JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936501:12,495,827...12,510,942
Ensembl chrNW_004936501:12,495,825...12,511,768
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 chrNW_004936501:11,859,558...11,863,689
Ensembl chrNW_004936501:11,859,552...11,865,747
JBrowse link
G Ypel3 yippee like 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936501:12,399,323...12,402,349
Ensembl chrNW_004936501:12,399,323...12,402,567
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 chrNW_004936501:12,699,197...12,700,697
Ensembl chrNW_004936501:12,699,200...12,700,979
JBrowse link
chromosome 16p12.1 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdr2 cerebellar degeneration related protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chrNW_004936501:7,247,162...7,271,954
Ensembl chrNW_004936501:7,246,340...7,271,620
JBrowse link
G Eef2k eukaryotic elongation factor 2 kinase ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chrNW_004936501:7,160,134...7,205,231
Ensembl chrNW_004936501:7,160,134...7,207,377
JBrowse link
G LOC101973430 cytochrome b-c1 complex subunit 2, mitochondrial ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chrNW_004936501:6,947,985...6,968,846
Ensembl chrNW_004936501:6,947,985...6,970,254
JBrowse link
G Mosmo modulator of smoothened ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chrNW_004936501:6,981,331...7,047,046 JBrowse link
G Pdzd9 PDZ domain containing 9 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chrNW_004936501:6,968,891...6,980,871
Ensembl chrNW_004936501:6,969,715...6,981,529
JBrowse link
G Polr3e RNA polymerase III subunit E ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chrNW_004936501:7,217,789...7,240,126
Ensembl chrNW_004936501:7,217,760...7,240,675
JBrowse link
G Sdr42e2 short chain dehydrogenase/reductase family 42E, member 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chrNW_004936501:7,111,563...7,126,537
Ensembl chrNW_004936501:7,111,563...7,126,490
JBrowse link
G Vwa3a von Willebrand factor A domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chrNW_004936501:7,062,421...7,105,926
Ensembl chrNW_004936501:7,058,029...7,104,963
JBrowse link
chromosome 16q22 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acd ACD shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936475:18,049,134...18,052,123
Ensembl chrNW_004936475:18,045,662...18,052,172
JBrowse link
G Carmil2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936475:18,036,233...18,049,144
Ensembl chrNW_004936475:18,035,994...18,049,129
JBrowse link
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936475:17,987,137...18,031,733
Ensembl chrNW_004936475:17,987,156...18,031,760
JBrowse link
G CUNH16orf86 chromosome unknown C16orf86 homolog ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936475:18,059,127...18,061,250
Ensembl chrNW_004936475:18,059,127...18,060,789
JBrowse link
G Enkd1 enkurin domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936475:18,055,005...18,058,925
Ensembl chrNW_004936475:18,054,983...18,058,633
JBrowse link
G Gfod2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936475:18,065,626...18,114,683
Ensembl chrNW_004936475:18,064,098...18,114,749
JBrowse link
G Pard6a par-6 family cell polarity regulator alpha ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936475:18,052,768...18,054,620
Ensembl chrNW_004936475:18,052,181...18,054,620
JBrowse link
G Ranbp10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936475:18,117,532...18,185,531
Ensembl chrNW_004936475:18,117,685...18,185,664
JBrowse link
Chromosome 17 Deletion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544363 PMID:22544367 NCBI chrNW_004936541:2,480,097...2,677,693
Ensembl chrNW_004936541:2,480,849...2,675,991
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14961032 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf135 ring finger protein 135 ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome ClinVar PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chrNW_004936538:2,741,308...2,757,042
Ensembl chrNW_004936538:2,741,220...2,757,240
JBrowse link
chromosome 17q12 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aatf apoptosis antagonizing transcription factor ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004936490:1,209,760...1,320,046
Ensembl chrNW_004936490:1,209,967...1,319,802
JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004936490:927,769...1,191,483
Ensembl chrNW_004936490:927,769...1,191,481
JBrowse link
G CUNH17orf78 chromosome unknown C17orf78 homolog ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004936490:939,270...952,143
Ensembl chrNW_004936490:939,599...952,096
JBrowse link
G Ddx52 DExD-box helicase 52 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004936490:743,482...758,886
Ensembl chrNW_004936490:743,482...760,712
JBrowse link
G Dhrs11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004936490:1,626,177...1,633,578
Ensembl chrNW_004936490:1,626,106...1,633,622
JBrowse link
G Dusp14 dual specificity phosphatase 14 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004936490:840,907...860,457
Ensembl chrNW_004936490:840,907...860,439
JBrowse link
G Ggnbp2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004936490:1,635,443...1,671,057
Ensembl chrNW_004936490:1,635,443...1,671,089
JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004936490:649,551...702,448
Ensembl chrNW_004936490:649,546...702,672
JBrowse link
G Lhx1 LIM homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004936490:1,324,378...1,332,177
Ensembl chrNW_004936490:1,324,370...1,331,505
JBrowse link
G Mrm1 mitochondrial rRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004936490:1,619,558...1,625,017
Ensembl chrNW_004936490:1,619,550...1,625,056
JBrowse link
G Mrpl45 mitochondrial ribosomal protein L45 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chrNW_004936490:13,782,733...13,799,488 JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004936490:1,679,092...1,706,976
Ensembl chrNW_004936490:1,679,187...1,706,976
JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis class W ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004936490:1,675,592...1,678,494
Ensembl chrNW_004936490:1,675,765...1,677,279
JBrowse link
G Synrg synergin gamma ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004936490:776,939...840,019
Ensembl chrNW_004936490:776,896...840,022
JBrowse link
G Tada2a transcriptional adaptor 2A ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004936490:873,675...924,582
Ensembl chrNW_004936490:872,945...924,614
JBrowse link
G Znhit3 zinc finger HIT-type containing 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chrNW_004936490:1,707,309...1,716,315
Ensembl chrNW_004936490:1,707,660...1,716,361
JBrowse link
chromosome 18p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:150,953...189,980
Ensembl chrNW_004936626:150,974...189,218
JBrowse link
G Akain1 A-kinase anchor inhibitor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936779:1,270,666...1,322,797
Ensembl chrNW_004936779:1,320,499...1,320,832
JBrowse link
G Ankrd12 ankyrin repeat domain 12 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936670:2,775,222...2,898,418
Ensembl chrNW_004936670:2,775,242...2,898,408
JBrowse link
G Apcdd1 APC down-regulated 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:1,217,240...1,237,741
Ensembl chrNW_004936626:1,216,323...1,237,792
JBrowse link
G Arhgap28 Rho GTPase activating protein 28 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936670:186,141...315,613
Ensembl chrNW_004936670:129,160...312,275
JBrowse link
G Cep192 centrosomal protein 192 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:2,565,302...2,659,863
Ensembl chrNW_004936626:2,565,281...2,658,295
JBrowse link
G Cep76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:2,306,161...2,327,262
Ensembl chrNW_004936626:2,304,613...2,327,268
JBrowse link
G Chmp1b charged multivesicular body protein 1B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:391,942...394,440 JBrowse link
G Cidea cell death inducing DFFA like effector a ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:230,372...246,893
Ensembl chrNW_004936626:230,329...246,893
JBrowse link
G Dlgap1 DLG associated protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936672:610,020...1,094,718
Ensembl chrNW_004936672:731,858...1,091,462
JBrowse link
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936672:1,607,914...1,661,531
Ensembl chrNW_004936672:1,609,193...1,661,528
JBrowse link
G Epb41l3 erythrocyte membrane protein band 4.1 like 3 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936779:962,696...1,106,452
Ensembl chrNW_004936779:1,016,265...1,104,070
JBrowse link
G Fam210a family with sequence similarity 210 member A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:3,096,220...3,106,251
Ensembl chrNW_004936626:3,095,944...3,106,331
JBrowse link
G Gnal G protein subunit alpha L ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:372,893...460,884
Ensembl chrNW_004936626:373,433...460,788
JBrowse link
G Impa2 inositol monophosphatase 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:268,788...310,781
Ensembl chrNW_004936626:268,727...310,787
JBrowse link
G L3mbtl4 L3MBTL histone methyl-lysine binding protein 4 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936779:192,852...570,881
Ensembl chrNW_004936779:234,634...454,418
JBrowse link
G Lama1 laminin subunit alpha 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936670:359,343...511,126
Ensembl chrNW_004936670:359,582...484,539
JBrowse link
G Ldlrad4 low density lipoprotein receptor class A domain containing 4 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:2,730,689...3,088,527
Ensembl chrNW_004936626:2,865,352...3,081,703
JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936672:1,550,865...1,606,268
Ensembl chrNW_004936672:1,568,732...1,602,931
JBrowse link
G Lrrc30 leucine rich repeat containing 30 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936670:590,401...592,138
Ensembl chrNW_004936670:590,579...591,481
JBrowse link
G Mc2r melanocortin 2 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:3,253,100...3,254,002
Ensembl chrNW_004936626:3,253,112...3,253,999
JBrowse link
G Mc5r melanocortin 5 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:3,203,437...3,204,743
Ensembl chrNW_004936626:3,202,346...3,204,477
JBrowse link
G Mppe1 metallophosphoesterase 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:349,324...371,073
Ensembl chrNW_004936626:361,270...373,629
JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936670:2,388,839...2,516,758
Ensembl chrNW_004936670:2,388,908...2,516,875
JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936672:1,303,510...1,321,969
Ensembl chrNW_004936672:1,300,341...1,322,065
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936672:1,351,053...1,481,954
Ensembl chrNW_004936672:1,351,002...1,482,124
JBrowse link
G Napg NSF attachment protein gamma ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:1,164,822...1,185,489
Ensembl chrNW_004936626:1,164,767...1,185,565
JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936670:2,742,553...2,772,697
Ensembl chrNW_004936670:2,742,553...2,772,697
JBrowse link
G Piezo2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:802,415...1,141,260
Ensembl chrNW_004936626:802,490...1,140,082
JBrowse link
G Ppp4r1 protein phosphatase 4 regulatory subunit 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:1,776,194...1,826,243
Ensembl chrNW_004936626:1,790,837...1,826,245
JBrowse link
G Prelid3a PRELI domain containing 3A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:113,461...120,669
Ensembl chrNW_004936626:113,457...120,071
JBrowse link
G Psmg2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:2,328,646...2,344,831
Ensembl chrNW_004936626:2,329,678...2,344,897
JBrowse link
G Ptpn2 protein tyrosine phosphatase non-receptor type 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:2,390,004...2,472,039
Ensembl chrNW_004936626:2,389,868...2,445,927
JBrowse link
G Ptprm protein tyrosine phosphatase receptor type M ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936670:890,316...1,692,033
Ensembl chrNW_004936670:890,310...1,692,041
JBrowse link
G Rab12 RAB12, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936670:2,315,930...2,338,489
Ensembl chrNW_004936670:2,315,442...2,338,509
JBrowse link
G Rab31 RAB31, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:1,628,379...1,673,150
Ensembl chrNW_004936626:1,628,451...1,660,510
JBrowse link
G Ralbp1 ralA binding protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:1,832,703...1,851,486
Ensembl chrNW_004936626:1,832,584...1,851,467
JBrowse link
G Rnmt RNA guanine-7 methyltransferase ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:3,132,781...3,156,252
Ensembl chrNW_004936626:3,132,772...3,153,920
JBrowse link
G Seh1l SEH1 like nucleoporin ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:2,538,655...2,562,468
Ensembl chrNW_004936626:2,540,710...2,562,595
JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936672:1,686,070...1,838,315
Ensembl chrNW_004936672:1,685,734...1,838,315
JBrowse link
G Spire1 spire type actin nucleation factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:2,151,990...2,292,307
Ensembl chrNW_004936626:2,151,827...2,227,374
JBrowse link
G Tgif1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936672:1,128,104...1,135,844
Ensembl chrNW_004936672:1,128,108...1,136,292
JBrowse link
G Tmem200c transmembrane protein 200C ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936779:640,180...648,031
Ensembl chrNW_004936779:643,503...645,434
JBrowse link
G Tubb6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:192,191...204,827
Ensembl chrNW_004936626:188,881...204,884
JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:1,901,686...1,946,554
Ensembl chrNW_004936626:1,901,680...1,946,460
JBrowse link
G Txndc2 thioredoxin domain containing 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:1,608,877...1,610,472 JBrowse link
G Vapa VAMP associated protein A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936626:1,550,305...1,585,783
Ensembl chrNW_004936626:1,548,139...1,568,656
JBrowse link
G Zbtb14 zinc finger and BTB domain containing 14 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chrNW_004936779:1,198,469...1,205,671
Ensembl chrNW_004936779:1,199,490...1,207,934
JBrowse link
chromosome 18q deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:124,590...145,944
Ensembl chrNW_004936616:123,758...146,254
JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:604,132...846,645
Ensembl chrNW_004936616:603,588...846,640
JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921
JBrowse link
G Cbln2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936756:567,906...576,276
Ensembl chrNW_004936756:567,710...575,205
JBrowse link
G Ccdc102b coiled-coil domain containing 102B ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936781:754,392...835,648 JBrowse link
G Cdh19 cadherin 19 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004938182:2,674...13,253 JBrowse link
G Cdh20 cadherin 20 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936497:3,626,181...3,827,024
Ensembl chrNW_004936497:3,625,601...3,699,564
JBrowse link
G Cdh7 cadherin 7 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936497:168,265...293,236 JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:3,955,847...3,984,021 JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:3,997,670...4,016,077
Ensembl chrNW_004936616:3,998,289...4,012,904
JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:369,306...407,083
Ensembl chrNW_004936616:369,893...407,093
JBrowse link
G CUNH18orf63 chromosome unknown C18orf63 homolog ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:4,125,043...4,170,685 JBrowse link
G Dipk1c divergent protein kinase domain 1C ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:4,058,786...4,069,254
Ensembl chrNW_004936616:4,047,635...4,069,253
JBrowse link
G Dok6 docking protein 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936781:55,643...217,946
Ensembl chrNW_004936781:56,078...218,115
JBrowse link
G Fbxo15 F-box protein 15 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:4,272,502...4,332,172
Ensembl chrNW_004936616:4,272,395...4,332,238
JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:2,007,339...2,020,737
Ensembl chrNW_004936616:2,007,352...2,020,737
JBrowse link
G Hsbp1l1 heat shock factor binding protein 1 like 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:244,940...249,941
Ensembl chrNW_004936616:244,940...248,499
JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:294,466...338,332
Ensembl chrNW_004936616:293,314...310,684
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936497:2,169,982...2,199,600
Ensembl chrNW_004936497:2,169,712...2,203,150
JBrowse link
G LOC101960314 cytochrome b5 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:4,176,576...4,210,276 JBrowse link
G LOC101971699 serpin B10 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936497:1,782,142...1,797,968
Ensembl chrNW_004936497:1,782,116...1,800,307
JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:2,082,154...2,159,028
Ensembl chrNW_004936616:2,082,099...2,159,070
JBrowse link
G Mc4r melanocortin 4 receptor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 NCBI chrNW_004936497:4,636,370...4,638,205
Ensembl chrNW_004936497:4,636,758...4,637,759
JBrowse link
G Neto1 neuropilin and tolloid like 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936756:296,584...403,830
Ensembl chrNW_004936756:296,578...401,823
JBrowse link
G Nfatc1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:484,062...584,950
Ensembl chrNW_004936616:484,045...587,891
JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:50,504...115,679
Ensembl chrNW_004936616:50,498...115,613
JBrowse link
G Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936497:2,467,776...2,683,794
Ensembl chrNW_004936497:2,467,684...2,683,799
JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis class N ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936497:3,121,184...3,230,912
Ensembl chrNW_004936497:3,124,557...3,234,061
JBrowse link
G Ptgr3 prostaglandin reductase 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:3,428,045...3,438,092
Ensembl chrNW_004936616:3,428,045...3,439,945
JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:185,616...201,405
Ensembl chrNW_004936616:192,886...201,411
JBrowse link
G Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936497:3,021,962...3,121,028
Ensembl chrNW_004936497:3,021,875...3,121,013
JBrowse link
G Rnf152 ring finger protein 152 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936497:3,357,464...3,421,813
Ensembl chrNW_004936497:3,420,724...3,421,335
JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936964:1,369...71,142 JBrowse link
G Sall3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:903,220...922,635
Ensembl chrNW_004936616:901,076...922,641
JBrowse link
G Serpinb11 serpin family B member 11 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936497:1,931,500...1,950,256
Ensembl chrNW_004936497:1,930,201...1,950,494
JBrowse link
G Serpinb12 serpin family B member 12 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936497:2,014,871...2,024,575 JBrowse link
G Serpinb2 serpin family B member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936497:1,805,957...1,814,911
Ensembl chrNW_004936497:1,805,957...1,814,911
JBrowse link
G Serpinb5 serpin family B member 5 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936497:2,067,796...2,089,965
Ensembl chrNW_004936497:2,069,035...2,089,745
JBrowse link
G Serpinb7 serpin family B member 7 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936497:1,865,540...1,887,695
Ensembl chrNW_004936497:1,866,166...1,887,690
JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:265,609...292,430
Ensembl chrNW_004936616:265,850...292,586
JBrowse link
G Socs6 suppressor of cytokine signaling 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936964:174,165...179,813 JBrowse link
G Timm21 translocase of inner mitochondrial membrane 21 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:4,263,912...4,271,927
Ensembl chrNW_004936616:4,263,464...4,272,039
JBrowse link
G Tmx3 thioredoxin related transmembrane protein 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936781:909,402...947,406
Ensembl chrNW_004936781:909,379...948,541
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11a ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936497:2,944,841...2,986,113
Ensembl chrNW_004936497:2,945,010...2,995,207
JBrowse link
G Tshz1 teashirt zinc finger homeobox 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:3,353,334...3,378,819
Ensembl chrNW_004936616:3,354,232...3,427,875
JBrowse link
G Txnl4a thioredoxin like 4A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:220,255...232,042
Ensembl chrNW_004936616:220,274...234,870
JBrowse link
G Vps4b vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936497:2,126,064...2,161,451
Ensembl chrNW_004936497:2,126,061...2,161,485
JBrowse link
G Zcchc2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936497:2,785,508...2,844,181
Ensembl chrNW_004936497:2,787,525...2,844,187
JBrowse link
G Znf236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:2,163,000...2,251,306
Ensembl chrNW_004936616:2,163,063...2,243,069
JBrowse link
G Znf407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:3,525,483...3,947,163
Ensembl chrNW_004936616:3,525,246...3,921,359
JBrowse link
G Znf516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chrNW_004936616:2,451,952...2,553,843
Ensembl chrNW_004936616:2,452,248...2,553,693
JBrowse link
chromosome 19q13.11 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba2 ubiquitin like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome, distal ClinVar PMID:25741868 NCBI chrNW_004936570:1,502,701...1,548,967
Ensembl chrNW_004936570:1,502,703...1,548,966
JBrowse link
chromosome 1p36 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadacl3 arylacetamide deacetylase like 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:1,360,034...1,373,234
Ensembl chrNW_004936474:1,360,034...1,372,850
JBrowse link
G Aadacl4 arylacetamide deacetylase like 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:1,303,449...1,313,995
Ensembl chrNW_004936474:1,303,441...1,313,974
JBrowse link
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,836,851...1,850,279
Ensembl chrNW_004936737:1,836,897...1,848,989
JBrowse link
G Acot7 acyl-CoA thioesterase 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:1,112,021...1,191,190
Ensembl chrNW_004936623:1,112,338...1,191,064
JBrowse link
G Actl8 actin like 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:4,528,485...4,531,164
Ensembl chrNW_004936474:4,528,485...4,531,164
JBrowse link
G Actrt2 actin related protein T2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:765,125...766,432
Ensembl chrNW_004936737:765,125...766,432
JBrowse link
G Agmat agmatinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,242,185...3,252,231
Ensembl chrNW_004936474:3,238,447...3,252,272
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:2,010,647...2,041,401
Ensembl chrNW_004936737:2,011,724...2,039,796
JBrowse link
G Agtrap angiotensin II receptor associated protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:585,440...597,493
Ensembl chrNW_004936474:585,440...597,257
JBrowse link
G Ajap1 adherens junctions associated protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:32,900...51,396 JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:5,217,601...5,246,718
Ensembl chrNW_004936474:5,218,686...5,246,664
JBrowse link
G Angptl7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:224,836...230,682
Ensembl chrNW_004936474:224,576...230,711
JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,751,065...1,753,843 JBrowse link
G Arhgef10l Rho guanine nucleotide exchange factor 10 like ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:4,364,244...4,448,975
Ensembl chrNW_004936474:4,364,269...4,449,000
JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:369,872...383,671
Ensembl chrNW_004936737:369,852...383,719
JBrowse link
G Arhgef19 Rho guanine nucleotide exchange factor 19 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,706,584...3,716,010
Ensembl chrNW_004936474:3,706,100...3,719,641
JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,968,216...3,980,821
Ensembl chrNW_004936474:3,968,506...3,980,815
JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,776,550...1,778,233
Ensembl chrNW_004936737:1,776,480...1,779,611
JBrowse link
G B3galt6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,887,250...1,889,055
Ensembl chrNW_004936737:1,887,855...1,888,826
JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,877,428...1,881,345
Ensembl chrNW_004936737:1,877,191...1,881,360
JBrowse link
G Ca6 carbonic anhydrase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:3,169,095...3,188,947
Ensembl chrNW_004936623:3,169,089...3,188,956
JBrowse link
G Calml6 calmodulin like 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:1,468,172...1,470,326
Ensembl chrNW_004936737:1,468,269...1,469,445
JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:1,759,052...2,265,466
Ensembl chrNW_004936623:1,526,171...2,266,124
JBrowse link
G Capzb capping actin protein of muscle Z-line subunit beta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:5,594,193...5,656,665
Ensembl chrNW_004936474:5,594,152...5,709,315
JBrowse link
G Casp9 caspase 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,178,097...3,196,130 JBrowse link
G Casz1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:4,478,421...4,503,207
Ensembl chrNW_004936623:4,467,837...4,494,390
JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:144,398...157,262 JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,765,027...1,773,156
Ensembl chrNW_004936737:1,764,189...1,772,475
JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:98,346...127,932
Ensembl chrNW_004936737:98,365...129,671
JBrowse link
G Cfap107 cilia and flagella associated protein 107 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:1,382,821...1,396,570
Ensembl chrNW_004936474:1,382,815...1,396,570
JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:1,416,475...1,465,984 JBrowse link
G Chd5 chromodomain helicase DNA binding protein 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:988,423...1,046,969
Ensembl chrNW_004936623:991,193...1,046,969
JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:637,930...669,383
Ensembl chrNW_004936474:637,978...669,833
JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,591,134...3,601,562 JBrowse link
G Cort cortistatin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:4,287,175...4,289,347 JBrowse link
G Cplane2 ciliogenesis and planar polarity effector complex subunit 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,725,871...3,730,634
Ensembl chrNW_004936474:3,725,865...3,730,677
JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,816,461...1,820,353
Ensembl chrNW_004936737:1,816,475...1,820,320
JBrowse link
G Crocc ciliary rootlet coiled-coil, rootletin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,918,237...3,958,635
Ensembl chrNW_004936474:3,918,919...3,958,229
JBrowse link
G CUNH1orf127 chromosome unknown C1orf127 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:49,570...73,710 JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,975,031...1,991,058 JBrowse link
G CUNH1orf167 chromosome unknown C1orf167 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:605,492...623,355 JBrowse link
G CUNH1orf174 chromosome unknown C1orf174 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:72,930...78,824 JBrowse link
G Dffa DNA fragmentation factor subunit alpha ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:4,296,995...4,307,069
Ensembl chrNW_004936623:4,296,681...4,307,159
JBrowse link
G Dffb DNA fragmentation factor subunit beta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:79,789...96,140
Ensembl chrNW_004936737:81,078...96,151
JBrowse link
G Dhrs3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:1,237,177...1,270,299
Ensembl chrNW_004936474:1,235,962...1,269,510
JBrowse link
G Disp3 dispatched RND transporter family member 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:414,546...460,525
Ensembl chrNW_004936474:432,825...459,736
JBrowse link
G Dnajc11 DnaJ heat shock protein family (Hsp40) member C11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:1,379,131...1,440,241
Ensembl chrNW_004936623:1,379,128...1,440,241
JBrowse link
G Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,201,773...3,241,939
Ensembl chrNW_004936474:3,201,755...3,243,093
JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:561,822...571,817
Ensembl chrNW_004936474:561,822...571,622
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,797,348...1,811,043
Ensembl chrNW_004936737:1,797,326...1,810,286
JBrowse link
G Efhd2 EF-hand domain family member D2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,113,116...3,128,348
Ensembl chrNW_004936474:3,112,954...3,128,363
JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:5,512,100...5,539,198
Ensembl chrNW_004936474:5,511,661...5,539,237
JBrowse link
G Eno1 enolase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:3,115,357...3,130,289
Ensembl chrNW_004936623:3,115,081...3,128,183
JBrowse link
G Epha2 EPH receptor A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,648,395...3,673,856
Ensembl chrNW_004936474:3,648,550...3,673,861
JBrowse link
G Errfi1 ERBB receptor feedback inhibitor 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:2,457,709...2,462,956
Ensembl chrNW_004936623:2,456,294...2,462,467
JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:1,220,435...1,249,743
Ensembl chrNW_004936623:1,220,593...1,248,993
JBrowse link
G Exosc10 exosome component 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:130,735...153,608
Ensembl chrNW_004936474:130,329...153,962
JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:1,296,152...1,300,038 JBrowse link
G Fam131c family with sequence similarity 131 member C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,602,330...3,607,462
Ensembl chrNW_004936474:3,602,881...3,607,452
JBrowse link
G Fblim1 filamin binding LIM protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,386,279...3,398,880
Ensembl chrNW_004936474:3,384,043...3,398,907
JBrowse link
G Fbxo2 F-box protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:521,235...526,151
Ensembl chrNW_004936474:521,123...526,959
JBrowse link
G Fbxo42 F-box protein 42 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,738,332...3,818,796
Ensembl chrNW_004936474:3,738,234...3,818,842
JBrowse link
G Fbxo44 F-box protein 44 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:526,191...531,825
Ensembl chrNW_004936474:525,862...532,152
JBrowse link
G Fbxo6 F-box protein 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:531,873...538,596
Ensembl chrNW_004936474:533,254...542,907
JBrowse link
G Fhad1 forkhead associated phosphopeptide binding domain 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:2,978,895...3,104,393
Ensembl chrNW_004936474:2,978,895...3,103,488
JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,658,932...1,668,081 JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:1,400,437...1,405,885
Ensembl chrNW_004936737:1,400,395...1,406,119
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,518,855...1,554,926
Ensembl chrNW_004936737:1,524,325...1,555,102
JBrowse link
G Gpr157 G protein-coupled receptor 157 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:3,264,409...3,281,857
Ensembl chrNW_004936623:3,264,403...3,281,931
JBrowse link
G H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:3,359,624...3,376,598
Ensembl chrNW_004936623:3,351,716...3,375,146
JBrowse link
G Hes2 hes family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:1,213,281...1,215,879
Ensembl chrNW_004936623:1,209,885...1,216,424
JBrowse link
G Hes3 hes family bHLH transcription factor 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:1,096,519...1,098,175
Ensembl chrNW_004936623:1,096,870...1,097,858
JBrowse link
G Hes4 hes family bHLH transcription factor 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:2,054,879...2,056,126 JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:1,045,496...1,047,865
Ensembl chrNW_004936737:1,046,613...1,047,950
JBrowse link
G Hspb7 heat shock protein family B (small) member 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,583,999...3,587,316
Ensembl chrNW_004936474:3,583,509...3,587,508
JBrowse link
G Htr6 5-hydroxytryptamine receptor 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:5,848,719...5,858,520
Ensembl chrNW_004936474:5,848,707...5,859,749
JBrowse link
G Iffo2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:5,248,342...5,290,908
Ensembl chrNW_004936474:5,248,336...5,291,096
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,820,472...1,833,301
Ensembl chrNW_004936737:1,822,826...1,833,104
JBrowse link
G Isg15 ISG15 ubiquitin like modifier ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:2,043,383...2,044,761 JBrowse link
G Kazn kazrin, periplakin interacting protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:2,561,729...2,865,137 JBrowse link
G Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:972,288...987,949
Ensembl chrNW_004936623:940,678...985,388
JBrowse link
G Kiaa2013 KIAA2013 ortholog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:728,621...737,665
Ensembl chrNW_004936474:728,612...734,296
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:4,091,093...4,222,510
Ensembl chrNW_004936623:4,091,190...4,218,251
JBrowse link
G Klhdc7a kelch domain containing 7A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:4,938,609...4,940,971
Ensembl chrNW_004936474:4,938,688...4,945,431
JBrowse link
G Klhl17 kelch like family member 17 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:2,080,699...2,086,252
Ensembl chrNW_004936737:2,079,582...2,086,152
JBrowse link
G Klhl21 kelch like family member 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:1,344,603...1,355,594
Ensembl chrNW_004936623:1,344,622...1,355,739
JBrowse link
G LOC101959362 peroxisomal membrane protein PEX14 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:4,313,186...4,462,462
Ensembl chrNW_004936623:4,313,147...4,462,528
Ensembl chrNW_004936623:4,313,147...4,462,528
JBrowse link
G LOC101962219 probable G-protein coupled receptor 153 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:1,102,478...1,110,224
Ensembl chrNW_004936623:1,101,360...1,106,184
Ensembl chrNW_004936623:1,101,360...1,106,184
JBrowse link
G LOC101965661 beta-catenin-interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:3,696,686...3,729,017
Ensembl chrNW_004936623:3,782,005...3,806,619
Ensembl chrNW_004936623:3,782,005...3,806,619
JBrowse link
G LOC101967812 chymotrypsin-C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,128,053...3,163,381 JBrowse link
G LOC101974041 aflatoxin B1 aldehyde reductase member 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:5,565,715...5,573,048 JBrowse link
G LOC101974144 immunoglobulin superfamily member 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:4,868,730...4,883,028 JBrowse link
G LOC101975825 group IIF secretory phospholipase A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:6,186,604...6,192,621
Ensembl chrNW_004936474:6,186,604...6,192,621
JBrowse link
G LOC101976106 uncharacterized LOC101976106 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:6,207,021...6,212,347 JBrowse link
G Lrrc38 leucine rich repeat containing 38 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:1,684,056...1,710,153
Ensembl chrNW_004936474:1,684,656...1,710,159
JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:129,781...139,139
Ensembl chrNW_004936737:129,724...139,468
JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:3,851,208...3,862,521
Ensembl chrNW_004936623:3,851,208...3,862,281
JBrowse link
G Mad2l2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:538,703...542,901
Ensembl chrNW_004936474:538,625...542,901
JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:100,584...113,781
Ensembl chrNW_004936474:101,402...114,313
JBrowse link
G Megf6 multiple EGF like domains 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:269,629...364,809 JBrowse link
G Mfap2 microfibril associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,959,499...3,963,326
Ensembl chrNW_004936474:3,956,095...3,963,253
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:767,754...795,258
Ensembl chrNW_004936474:767,671...796,556
JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,633,495...1,646,598 JBrowse link
G Micos10 mitochondrial contact site and cristae organizing system subunit 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:5,787,939...5,816,133
Ensembl chrNW_004936474:5,788,004...5,815,902
JBrowse link
G Miip migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:802,240...810,827
Ensembl chrNW_004936474:802,192...811,946
JBrowse link
G Mmel1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:970,504...997,452
Ensembl chrNW_004936737:970,504...997,067
JBrowse link
G Mmp23b matrix metallopeptidase 23B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,628,915...1,632,023
Ensembl chrNW_004936737:1,629,639...1,632,023
JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:1,166,183...1,214,517 JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,760,236...1,761,776 JBrowse link
G Mrto4 MRT4 homolog, ribosome maturation factor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:5,539,306...5,546,085
Ensembl chrNW_004936474:5,539,246...5,546,087
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:158,376...282,310
Ensembl chrNW_004936474:157,590...282,342
JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,790,653...1,794,749
Ensembl chrNW_004936737:1,790,587...1,794,796
JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,568,304...1,579,929 JBrowse link
G Nbl1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:5,820,798...5,843,291
Ensembl chrNW_004936474:5,840,240...5,859,749
JBrowse link
G Necap2 NECAP endocytosis associated 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,892,608...3,906,548
Ensembl chrNW_004936474:3,892,608...3,906,558
JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:3,862,234...3,891,849
Ensembl chrNW_004936623:3,870,031...3,891,849
JBrowse link
G Noc2l NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:2,087,123...2,098,153
Ensembl chrNW_004936737:2,087,158...2,098,156
JBrowse link
G Nol9 nucleolar protein 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:1,302,818...1,323,610
Ensembl chrNW_004936623:1,305,973...1,323,609
JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:802,152...904,198 JBrowse link
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:671,362...673,610 JBrowse link
G Nppb natriuretic peptide B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:683,325...684,662
Ensembl chrNW_004936474:683,325...684,665
JBrowse link
G Otud3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:5,994,019...6,010,101
Ensembl chrNW_004936474:5,994,076...6,011,799
JBrowse link
G Padi1 peptidyl arginine deiminase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:4,121,948...4,163,562
Ensembl chrNW_004936474:4,134,737...4,161,958
JBrowse link
G Padi2 peptidyl arginine deiminase 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:4,033,703...4,066,468
Ensembl chrNW_004936474:4,033,230...4,088,256
JBrowse link
G Padi3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:4,165,597...4,191,449
Ensembl chrNW_004936474:4,165,597...4,191,449
JBrowse link
G Padi4 peptidyl arginine deiminase 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:4,219,183...4,239,551
Ensembl chrNW_004936474:4,221,672...4,238,599
JBrowse link
G Padi6 peptidyl arginine deiminase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:4,242,863...4,262,154
Ensembl chrNW_004936474:4,245,135...4,262,154
JBrowse link
G Pank4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:1,049,467...1,064,548
Ensembl chrNW_004936737:1,048,597...1,065,364
JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:2,422,780...2,436,817
Ensembl chrNW_004936623:2,422,833...2,436,817
JBrowse link
G Pax7 paired box 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:5,045,284...5,131,859
Ensembl chrNW_004936474:5,045,284...5,131,859
JBrowse link
G Pdpn podoplanin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:1,751,159...1,779,011
Ensembl chrNW_004936474:1,750,944...1,781,156
JBrowse link
G Per3 period circadian regulator 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:2,291,211...2,362,693
Ensembl chrNW_004936623:2,290,614...2,336,634
JBrowse link
G Perm1 PPARGC1 and ESRR induced regulator, muscle 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:2,067,432...2,072,784 JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:1,144,753...1,152,720
Ensembl chrNW_004936737:1,144,700...1,152,718
JBrowse link
G Pgd phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:4,234,869...4,251,690
Ensembl chrNW_004936623:4,234,837...4,252,467
JBrowse link
G Phf13 PHD finger protein 13 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:1,364,422...1,372,226
Ensembl chrNW_004936623:1,366,401...1,372,222
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:3,672,201...3,696,959 JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:6,091,978...6,095,961
Ensembl chrNW_004936474:6,091,941...6,096,057
JBrowse link
G Pla2g2d phospholipase A2 group IID ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:6,167,507...6,172,750
Ensembl chrNW_004936474:6,167,507...6,172,750
JBrowse link
G Pla2g5 phospholipase A2 group V ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:6,131,915...6,150,810
Ensembl chrNW_004936474:6,131,884...6,150,819
JBrowse link
G Plch2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:1,066,860...1,131,627
Ensembl chrNW_004936737:1,066,825...1,133,216
JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:1,255,350...1,279,310
Ensembl chrNW_004936623:1,255,096...1,279,349
JBrowse link
G Plekhm2 pleckstrin homology and RUN domain containing M2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,348,661...3,366,054
Ensembl chrNW_004936474:3,348,487...3,365,226
JBrowse link
G Plekhn1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:2,072,857...2,079,855 JBrowse link
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:740,582...763,294
Ensembl chrNW_004936474:746,922...765,585
JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:400,819...446,768
Ensembl chrNW_004936737:404,846...446,985
JBrowse link
G Prdm2 PR/SET domain 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:1,910,026...1,924,900
Ensembl chrNW_004936474:1,862,898...1,949,500
JBrowse link
G Prkcz protein kinase C zeta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:1,303,502...1,383,135
Ensembl chrNW_004936737:1,303,887...1,321,944
JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:998,313...1,000,757
Ensembl chrNW_004936737:998,186...1,000,764
JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,833,298...1,836,101
Ensembl chrNW_004936737:1,833,798...1,836,696
JBrowse link
G Rbp7 retinol binding protein 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:3,899,506...3,907,073
Ensembl chrNW_004936623:3,899,471...3,907,080
JBrowse link
G Rcc2 regulator of chromosome condensation 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:4,265,572...4,307,283
Ensembl chrNW_004936474:4,265,578...4,281,364
JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:1,152,937...1,164,817
Ensembl chrNW_004936737:1,152,937...1,164,616
JBrowse link
G Rere arginine-glutamic acid dipeptide repeats ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:2,678,627...2,942,387
Ensembl chrNW_004936623:2,678,638...2,942,216
JBrowse link
G Rnf186 ring finger protein 186 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:5,947,077...5,947,772 JBrowse link
G Rnf207 ring finger protein 207 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:1,065,260...1,079,918
Ensembl chrNW_004936623:1,066,957...1,079,030
JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,992,117...1,997,810 JBrowse link
G Rpl22 ribosomal protein L22 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:1,052,197...1,059,529
Ensembl chrNW_004936623:1,052,182...1,061,614
JBrowse link
G Rsc1a1 regulator of solute carriers 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,284,512...3,312,366
Ensembl chrNW_004936474:3,307,377...3,312,066
Ensembl chrNW_004936474:3,307,377...3,312,066
JBrowse link
G Scnn1d sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,851,185...1,854,923 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,889,123...1,898,303
Ensembl chrNW_004936737:1,891,415...1,898,904
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,993,224...4,021,359
Ensembl chrNW_004936474:3,990,778...4,021,423
JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:1,223,653...1,274,664
Ensembl chrNW_004936737:1,222,341...1,276,631
JBrowse link
G Slc25a33 solute carrier family 25 member 33 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:3,585,372...3,603,515
Ensembl chrNW_004936623:3,585,253...3,604,310
JBrowse link
G Slc25a34 solute carrier family 25 member 34 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,367,374...3,371,315
Ensembl chrNW_004936474:3,367,695...3,370,133
JBrowse link
G Slc2a5 solute carrier family 2 member 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:3,226,533...3,249,909
Ensembl chrNW_004936623:3,226,515...3,249,914
JBrowse link
G Slc2a7 solute carrier family 2 member 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:3,205,237...3,221,639
Ensembl chrNW_004936623:3,205,532...3,221,030
JBrowse link
G Slc45a1 solute carrier family 45 member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:2,658,996...2,671,993
Ensembl chrNW_004936623:2,658,897...2,673,024
JBrowse link
G Slc66a1 solute carrier family 66 member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:5,573,175...5,588,319
Ensembl chrNW_004936474:5,576,507...5,590,279
JBrowse link
G Smim1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:141,024...141,851
Ensembl chrNW_004936737:140,702...143,791
JBrowse link
G Spata21 spermatogenesis associated 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,852,003...3,875,204 JBrowse link
G Spen spen family transcriptional repressor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,473,892...3,535,307
Ensembl chrNW_004936474:3,473,901...3,534,628
JBrowse link
G Spsb1 splA/ryanodine receptor domain and SOCS box containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:3,448,787...3,455,670
Ensembl chrNW_004936623:3,427,761...3,455,670
JBrowse link
G Srarp steroid receptor associated and regulated protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,573,668...3,575,859
Ensembl chrNW_004936474:3,573,642...3,575,868
JBrowse link
G Srm spermidine synthase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:121,135...124,894
Ensembl chrNW_004936474:118,000...124,963
JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,678,425...1,705,569
Ensembl chrNW_004936737:1,678,425...1,705,609
JBrowse link
G Szrd1 SUZ RNA binding domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,827,077...3,852,675
Ensembl chrNW_004936474:3,826,997...3,852,668
JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:90,813...103,713 JBrowse link
G Tas1r1 taste 1 receptor member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:1,325,384...1,333,609
Ensembl chrNW_004936623:1,325,384...1,333,609
JBrowse link
G Tas1r2 taste 1 receptor member 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:5,196,353...5,211,676
Ensembl chrNW_004936474:5,196,367...5,211,676
JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,811,123...1,814,982
Ensembl chrNW_004936737:1,811,815...1,814,982
JBrowse link
G Thap3 THAP domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:1,374,309...1,378,841
Ensembl chrNW_004936623:1,374,351...1,378,393
JBrowse link
G Tmco4 transmembrane and coiled-coil domains 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:5,860,263...5,936,648
Ensembl chrNW_004936474:5,860,906...5,921,076
JBrowse link
G Tmem201 transmembrane protein 201 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:3,612,845...3,629,661
Ensembl chrNW_004936623:3,613,218...3,628,688
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,710,311...1,711,882 JBrowse link
G Tmem51 transmembrane protein 51 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:2,953,969...2,962,963
Ensembl chrNW_004936474:2,953,925...2,963,677
JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:1,466,168...1,468,003 JBrowse link
G Tmem82 transmembrane protein 82 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:3,371,389...3,375,979
Ensembl chrNW_004936474:3,371,998...3,376,002
JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,746,208...1,746,947 JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936737:1,008,228...1,013,575 JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chrNW_004936737:1,905,307...1,910,356 JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936474:908,414...935,765
Ensembl chrNW_004936474:908,485...934,177
JBrowse link
G Tnfrsf25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chrNW_004936623:1,249,979...1,254,273
Ensembl chrNW_004936623:1,250,232...1,254,280
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome</