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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:Aneuploidy
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Accession:DOID:9008692 term browser browse the term
Definition:The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
Synonyms:exact_synonym: Aneuploid;   Aneuploid Cell;   Aneuploid Cells;   Aneuploidies;   Aneuploids
 primary_id: MESH:D000782;   RDO:0000372



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Aneuploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AURKA aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24976383 NCBI chr20:52,707,757...52,730,579
Ensembl chr20:53,994,881...54,017,339
JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B susceptibility ISO DNA:missense mutation: ; mosaic variegated aneuploidy syndrome, OMIM:257300 RGD PMID:15475955 RGD:1600540 NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648
JBrowse link
G CKAP5 cytoskeleton associated protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24976383 NCBI chr11:46,694,967...46,797,500
Ensembl chr11:47,252,752...47,329,274
JBrowse link
G KIF11 kinesin family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17974955 NCBI chr10:89,339,254...89,401,188
Ensembl chr10:92,852,786...92,914,440
JBrowse link
G TLX1 T cell leukemia homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20972433 NCBI chr10:97,731,715...97,738,978
Ensembl chr10:101,207,374...101,214,625
JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553959
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 PMID:31690835
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 Ensembl chr16:30,268,390...30,273,581 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 Ensembl chr16:29,265,516...29,290,807
Ensembl chr16:29,265,516...29,290,807
JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 Ensembl chr16:29,209,115...29,226,239 JBrowse link
G BOLA2B bolA family member 2B ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:31690835
G C16H16orf54 chromosome 16 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 Ensembl chr16:30,117,052...30,117,726 JBrowse link
G C16H16orf92 chromosome 16 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 Ensembl chr16:30,398,743...30,399,615 JBrowse link
G CD19 CD19 molecule ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 Ensembl chr16:29,320,734...29,327,481 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 Ensembl chr16:30,227,772...30,233,145 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 Ensembl chr16:30,550,383...30,556,196 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 Ensembl chr16:30,378,922...30,384,142 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 Ensembl chr16:30,479,684...30,488,868 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 Ensembl chr16:30,365,725...30,369,486 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 Ensembl chr16:30,369,610...30,379,198 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
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 Ensembl chr16:30,161,702...30,177,170 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
G LOC100995352 keratin-associated protein 10-2 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
G LOC103783265 pulmonary surfactant-associated protein A1 ISO ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 NCBI chr10:76,571,312...76,575,820 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 Ensembl chr16:30,489,362...30,498,017 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 Ensembl chr16:30,049,806...30,070,469 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 Ensembl chr16:30,190,090...30,219,070 JBrowse link
G MVP-DT MVP divergent transcript 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
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
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 Ensembl chr16:30,186,326...30,190,654 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 Ensembl chr16:30,450,467...30,464,446 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 Ensembl chr16:30,183,352...30,187,862 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 Ensembl chr16:30,049,806...30,070,469 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 Ensembl chr16:29,289,949...29,314,177 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 Ensembl chr16:30,240,276...30,267,689 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 Ensembl chr16:29,249,597...29,263,334 JBrowse link
G SLX1A SLX1 homolog A, structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:31690835
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 Ensembl chr16:30,035,243...30,036,445 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
G SULT1A3 sulfotransferase family 1A member 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:31690835
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 Ensembl chr16:30,347,229...30,366,743 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 Ensembl chr16:30,460,305...30,467,070 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 Ensembl chr16:30,399,815...30,406,663 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 Ensembl chr16:30,327,890...30,346,316 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 Ensembl chr16:29,227,852...29,233,513 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 Ensembl chr16:30,467,490...30,471,256 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 Ensembl chr16:30,149,307...30,151,579 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 chr16:69,842,709...69,907,075
Ensembl chr16:89,467,997...89,523,825
JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,994,926...70,242,659
Ensembl chr16:89,633,849...89,683,311
JBrowse link
G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504
JBrowse link
G BANP BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:68,626,638...68,753,293 JBrowse link
G C16H16orf95 chromosome 16 C16orf95 homolog ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:67,973,069...67,987,773
Ensembl chr16:87,298,076...87,312,629
JBrowse link
G CA5A carbonic anhydrase 5A ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:68,564,400...68,618,614 JBrowse link
G CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,592,293...69,662,321
Ensembl chr16:89,246,545...89,347,435
JBrowse link
G CDH15 cadherin 15 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar Ensembl chr16:89,543,888...89,562,843 JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,516,728...69,522,419
Ensembl chr16:89,174,071...89,177,823
JBrowse link
G CPNE7 copine 7 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:70,327,952...70,349,898
Ensembl chr16:89,936,172...89,955,115
JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,419,811...69,428,500
Ensembl chr16:89,079,132...89,088,231
JBrowse link
G FBXO31 F-box protein 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:67,997,481...68,053,081
Ensembl chr16:87,322,364...87,377,104
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,557,956...69,571,421
Ensembl chr16:89,183,950...89,217,036
JBrowse link
G IL17C interleukin 17C ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,347,233...69,353,562
Ensembl chr16:89,011,688...89,013,678
JBrowse link
G JPH3 junctophilin 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:68,276,459...68,379,909
Ensembl chr16:87,596,814...87,700,235
JBrowse link
G KLHDC4 kelch domain containing 4 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:68,384,552...68,448,167
Ensembl chr16:87,702,744...87,764,605
JBrowse link
G LOC100986914 cytochrome b-245 light chain ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719
JBrowse link
G MAP1LC3B microtubule associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:68,063,869...68,076,772 JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,365,070...69,376,149
Ensembl chr16:89,025,572...89,036,964
JBrowse link
G PABPN1L PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,579,421...69,583,803
Ensembl chr16:89,234,156...89,237,595
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 chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068
JBrowse link
G RNF166 ring finger protein 166 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,409,777...69,419,761 JBrowse link
G RPL13 ribosomal protein L13 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:70,312,241...70,314,956 JBrowse link
G SLC22A31 solute carrier family 22 member 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar
G SLC7A5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:68,512,407...68,552,763 JBrowse link
G SNAI3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,390,929...69,400,971
Ensembl chr16:89,051,479...89,059,704
JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,571,438...69,575,556
Ensembl chr16:89,226,220...89,231,854
JBrowse link
G ZC3H18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,282,652...69,345,077
Ensembl chr16:88,944,517...89,005,199
JBrowse link
G ZCCHC14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:68,078,237...68,165,406
Ensembl chr16:87,401,184...87,486,124
JBrowse link
G ZFPM1 zinc finger protein, FOG family member 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,164,299...69,246,136 JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:68,777,496...69,151,995
Ensembl chr16:88,803,202...88,815,390
JBrowse link
G ZNF778 zinc finger protein 778 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar
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 chr 1:154,586,423...154,711,621
Ensembl chr 1:158,280,994...158,313,915
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 chr 1:155,774,799...155,988,767
Ensembl chr 1:159,448,023...159,661,741
JBrowse link
G ANGPTL1 angiopoietin like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,339,139...154,360,540
Ensembl chr 1:158,030,657...158,052,089
JBrowse link
G ANKRD45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:149,127,108...149,232,776
Ensembl chr 1:152,832,935...152,892,971
JBrowse link
G ASTN1 astrotactin 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:152,385,103...152,688,885
Ensembl chr 1:156,085,398...156,284,771
JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:144,592,667...144,621,052
Ensembl chr 1:148,314,793...148,342,050
JBrowse link
G AXDND1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251
JBrowse link
G BLZF1 basic leucine zipper nuclear factor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:144,850,261...144,870,672
Ensembl chr 1:148,572,418...148,592,827
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 chr 1:152,694,667...152,806,085
Ensembl chr 1:156,450,411...156,502,742
JBrowse link
G C1H1orf105 chromosome 1 C1orf105 homolog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:147,942,148...147,966,867
Ensembl chr 1:151,628,511...151,676,565
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 chr 1:156,796,855...157,296,987
Ensembl chr 1:160,628,089...160,949,270
JBrowse link
G CACYBP calcyclin binding protein ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:150,511,021...150,522,369
Ensembl chr 1:154,210,001...154,220,583
JBrowse link
G CCDC181 coiled-coil domain containing 181 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:144,877,237...144,943,380
Ensembl chr 1:148,599,559...148,632,247
JBrowse link
G CENPL centromere protein L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:149,317,149...149,342,267
Ensembl chr 1:153,020,837...153,045,866
JBrowse link
G CEP350 centrosomal protein 350 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,436,014...155,601,800
Ensembl chr 1:159,147,376...159,271,848
JBrowse link
G COP1 COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:151,459,354...151,727,131
Ensembl chr 1:155,156,185...155,425,156
JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:149,342,301...149,375,979
Ensembl chr 1:153,045,886...153,080,461
JBrowse link
G DHX9 DExH-box helicase 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,355,472...158,404,178
Ensembl chr 1:162,006,822...162,055,833
JBrowse link
G DNM3 dynamin 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:147,339,773...147,916,513
Ensembl chr 1:151,049,346...151,615,808
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915
JBrowse link
G FAM163A family with sequence similarity 163 member A ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,223,640...155,297,354
Ensembl chr 1:158,974,145...158,977,214
JBrowse link
G FAM20B FAM20B glycosaminoglycan xylosylkinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,510,050...154,558,868
Ensembl chr 1:158,217,079...158,249,897
JBrowse link
G FASLG Fas ligand ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
JBrowse link
G FIRRM FIGNL1 interacting regulator of recombination and mitosis ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:145,277,657...145,340,329
Ensembl chr 1:148,999,127...149,057,553
JBrowse link
G FMO1 flavin containing dimethylaniline monoxygenase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:146,742,505...146,778,560
Ensembl chr 1:150,456,729...150,492,527
JBrowse link
G FMO2 flavin containing dimethylaniline monoxygenase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:146,678,858...146,704,831
Ensembl chr 1:150,393,061...150,417,295
JBrowse link
G FMO3 flavin containing dimethylaniline monoxygenase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:146,583,570...146,611,720
Ensembl chr 1:150,298,957...150,325,850
JBrowse link
G FMO4 flavin containing dimethylaniline monoxygenase 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:146,806,413...146,834,315
Ensembl chr 1:150,520,375...150,548,270
JBrowse link
G GLUL glutamate-ammonia ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:157,882,258...157,891,562
Ensembl chr 1:161,534,106...161,543,411
JBrowse link
G GORAB golgin, RAB6 interacting ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:146,020,446...146,042,334
Ensembl chr 1:149,736,641...149,758,010
JBrowse link
G GPR52 G protein-coupled receptor 52 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:149,954,556...149,959,653 JBrowse link
G IER5 immediate early response 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,565,169...156,569,648 JBrowse link
G KIAA1614 KIAA1614 ortholog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,389,268...156,428,773
Ensembl chr 1:160,061,085...160,090,396
JBrowse link
G KIFAP3 kinesin associated protein 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:145,410,755...145,564,248
Ensembl chr 1:149,127,548...149,280,831
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 chr 1:149,232,858...149,303,357
Ensembl chr 1:152,937,835...153,008,239
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 chr 1:158,541,635...158,663,836
Ensembl chr 1:162,700,704...162,822,534
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 chr 1:158,697,084...158,763,209
Ensembl chr 1:162,862,785...162,921,864
JBrowse link
G LHX4 LIM homeobox 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,716,853...155,765,419
Ensembl chr 1:159,390,105...159,438,802
JBrowse link
G LOC100972084 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 chr 1:156,510,588...156,538,447
Ensembl chr 1:160,178,106...160,198,420
JBrowse link
G LOC100980580 uncharacterized protein KIAA0040 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:150,669,479...150,705,474
Ensembl chr 1:154,370,708...154,371,004
JBrowse link
G LOC100995923 torsin-1A-interacting protein 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,321,181...155,358,966
Ensembl chr 1:159,005,944...159,039,058
JBrowse link
G METTL13 methyltransferase 13, eEF1A N-terminus and K55 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:147,279,795...147,295,884
Ensembl chr 1:150,986,851...151,005,571
JBrowse link
G METTL18 methyltransferase 18, RPL3 N3(tau)-histidine ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:145,275,161...145,277,751
Ensembl chr 1:148,996,597...148,997,715
JBrowse link
G MROH9 maestro heat like repeat family member 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:146,425,586...146,557,901
Ensembl chr 1:150,141,104...150,273,143
JBrowse link
G MRPS14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:150,524,532...150,535,053
Ensembl chr 1:154,222,744...154,233,292
JBrowse link
G MYOC myocilin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:147,128,541...147,146,227
Ensembl chr 1:150,841,630...150,858,628
JBrowse link
G NCF2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:159,085,923...159,121,259
Ensembl chr 1:163,243,636...163,278,420
JBrowse link
G NME7 NME/NM23 family member 7 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:144,620,719...144,850,230
Ensembl chr 1:148,343,026...148,572,499
JBrowse link
G NMNAT2 nicotinamide nucleotide adenylyltransferase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,768,949...158,948,711
Ensembl chr 1:162,929,609...163,105,524
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 chr 1:155,038,753...155,064,332 JBrowse link
G NPL N-acetylneuraminate pyruvate lyase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,305,203...158,346,531
Ensembl chr 1:161,958,896...161,997,222
JBrowse link
G NTMT2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:145,635,789...145,658,564
Ensembl chr 1:149,352,738...149,374,488
JBrowse link
G PAPPA2 pappalysin 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:151,727,598...152,369,670
Ensembl chr 1:155,769,395...156,063,989
JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:147,891,867...147,942,057
Ensembl chr 1:151,649,468...151,650,361
JBrowse link
G PRDX6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:148,988,836...149,000,345 JBrowse link
G PRRC2C proline rich coiled-coil 2C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:146,979,651...147,089,506
Ensembl chr 1:150,693,780...150,801,477
JBrowse link
G PRRX1 paired related homeobox 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:146,151,633...146,227,926
Ensembl chr 1:149,867,634...149,943,810
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 chr 1:155,641,793...155,687,231
Ensembl chr 1:159,313,245...159,358,672
JBrowse link
G RABGAP1L RAB GTPase activating protein 1 like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:149,676,356...150,506,884
Ensembl chr 1:153,437,265...154,199,810
JBrowse link
G RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,224,362...154,411,202
Ensembl chr 1:157,916,856...158,097,550
JBrowse link
G RASAL2 RAS protein activator like 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:153,609,277...153,986,155
Ensembl chr 1:157,303,646...157,670,415
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 chr 1:149,454,748...149,539,566
Ensembl chr 1:153,160,661...153,213,402
JBrowse link
G RGS16 regulator of G protein signaling 16 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,117,257...158,123,031
Ensembl chr 1:161,765,595...161,774,709
JBrowse link
G RGS8 regulator of G protein signaling 8 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,160,368...158,268,521
Ensembl chr 1:161,813,540...161,855,027
JBrowse link
G RGSL1 regulator of G protein signaling like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:157,967,552...158,079,341
Ensembl chr 1:161,619,801...161,730,852
JBrowse link
G RNASEL ribonuclease L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,092,346...158,108,026
Ensembl chr 1:161,741,645...161,760,045
JBrowse link
G SCYL3 SCY1 like pseudokinase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:145,299,266...145,383,511
Ensembl chr 1:149,057,194...149,095,445
JBrowse link
G SEC16B SEC16 homolog B, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:153,445,298...153,555,082
Ensembl chr 1:157,139,709...157,179,830
JBrowse link
G SELE selectin E ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:145,205,684...145,217,143
Ensembl chr 1:148,930,437...148,938,313
JBrowse link
G SELL selectin L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:145,173,700...145,194,927
Ensembl chr 1:148,895,373...148,916,393
JBrowse link
G SELP selectin P ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701
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 chr 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369
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 chr 1:158,416,397...158,470,003
Ensembl chr 1:162,067,996...162,629,927
JBrowse link
G SLC19A2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:144,946,248...144,968,736
Ensembl chr 1:148,668,687...148,690,713
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 chr 1:149,012,063...149,127,843
Ensembl chr 1:152,718,175...152,826,534
JBrowse link
G SMG7 SMG7 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:159,002,363...159,084,572
Ensembl chr 1:163,159,362...163,242,285
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,776,305...154,840,594
Ensembl chr 1:158,464,886...158,524,909
JBrowse link
G STX6 syntaxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,450,202...156,500,143
Ensembl chr 1:160,117,825...160,167,314
JBrowse link
G SUCO SUN domain containing ossification factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:148,030,922...148,112,755
Ensembl chr 1:151,739,934...151,821,285
JBrowse link
G TDRD5 tudor domain containing 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,080,083...155,171,734
Ensembl chr 1:158,761,013...158,852,660
JBrowse link
G TEDDM1 transmembrane epididymal protein 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:157,897,568...157,917,608
Ensembl chr 1:161,550,771...161,569,394
JBrowse link
G TEX35 testis expressed 35 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,017,637...154,036,483
Ensembl chr 1:157,710,118...157,720,659
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 chr 1:148,684,689...148,989,775
Ensembl chr 1:152,391,450...152,415,845
Ensembl chr 1:152,391,450...152,415,845
JBrowse link
G TNN tenascin N ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:150,580,248...150,661,687
Ensembl chr 1:154,278,714...154,357,823
JBrowse link
G TNR tenascin R ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:150,826,892...151,257,301
Ensembl chr 1:154,532,582...154,615,538
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 chr 1:155,362,806...155,401,185
Ensembl chr 1:159,043,072...159,081,408
JBrowse link
G TOR3A torsin family 3 member A ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,563,795...154,578,339
Ensembl chr 1:158,255,410...158,271,166
JBrowse link
G VAMP4 vesicle associated membrane protein 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:147,192,001...147,233,945
Ensembl chr 1:150,903,134...150,944,815
JBrowse link
G XPR1 xenotropic and polytropic retrovirus receptor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,121,029...156,367,565
Ensembl chr 1:159,790,170...160,029,208
JBrowse link
G ZBTB37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:149,386,001...149,406,436
Ensembl chr 1:153,090,898...153,109,767
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 chr 1:157,546,709...157,560,498
Ensembl chr 1:161,208,135...161,209,841
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 chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916
JBrowse link
G SIX1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr14:41,250,512...41,256,567
Ensembl chr14:59,515,324...59,527,494
JBrowse link
G TBX1 T-box transcription factor 1 ISO RGD PMID:16452092 RGD:155663362 NCBI chr22:2,521,080...2,541,267 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 chr 3:15,591,890...15,785,997
Ensembl chr 3:15,932,020...16,057,647
JBrowse link
G BTD biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,526,339...15,575,475
Ensembl chr 3:15,863,489...15,907,497
JBrowse link
G C3H3orf20 chromosome 3 C3orf20 homolog ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,600,078...14,695,130
Ensembl chr 3:14,936,746...15,034,701
JBrowse link
G CAPN7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,131,774...15,177,836
Ensembl chr 3:15,468,890...15,515,528
JBrowse link
G CCDC174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,574,082...14,595,025
Ensembl chr 3:14,913,328...14,934,261
JBrowse link
G CHCHD4 coiled-coil-helix-coiled-coil-helix domain containing 4 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,030,410...14,043,233
Ensembl chr 3:14,370,854...14,383,660
JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,373,589...15,447,613
Ensembl chr 3:15,712,630...15,784,299
JBrowse link
G DAZL deleted in azoospermia like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,514,327...16,625,601
Ensembl chr 3:16,851,158...16,862,963
JBrowse link
G DPH3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,183,158...16,190,184
Ensembl chr 3:16,520,076...16,527,196
JBrowse link
G EAF1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,353,459...15,368,579
Ensembl chr 3:15,689,745...15,705,300
JBrowse link
G EFHB EF-hand domain family member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,798,204...19,855,338
Ensembl chr 3:20,128,668...20,184,718
JBrowse link
G FBLN2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:13,469,679...13,558,241
Ensembl chr 3:13,812,462...13,900,332
JBrowse link
G FGD5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,732,712...14,856,251
Ensembl chr 3:15,072,214...15,195,608
JBrowse link
G GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,099,794...16,152,941
Ensembl chr 3:16,436,838...16,494,038
JBrowse link
G GRIP2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,411,825...14,525,388
Ensembl chr 3:14,756,638...14,804,952
JBrowse link
G HACL1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,486,897...15,526,552
Ensembl chr 3:15,823,979...15,863,982
JBrowse link
G HDAC11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:13,400,788...13,427,010
Ensembl chr 3:13,744,475...13,769,997
JBrowse link
G KAT2B lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,956,067...20,070,637
Ensembl chr 3:20,286,865...20,400,770
JBrowse link
G KCNH8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,063,663...19,461,752
Ensembl chr 3:19,498,421...19,787,890
JBrowse link
G LSM3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,097,035...14,165,942
Ensembl chr 3:14,437,497...14,456,726
JBrowse link
G METTL6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,306,890...15,353,505
Ensembl chr 3:15,643,545...15,690,238
JBrowse link
G MRPS25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,934,006...14,989,899
Ensembl chr 3:15,313,061...15,328,594
JBrowse link
G NR2C2 nuclear receptor subfamily 2 group C member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,869,292...14,973,977
Ensembl chr 3:15,220,110...15,306,242
JBrowse link
G NUP210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:13,236,064...13,339,807
Ensembl chr 3:13,581,763...13,664,011
JBrowse link
G OXNAD1 oxidoreductase NAD binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,190,264...16,277,168
Ensembl chr 3:16,527,259...16,584,621
JBrowse link
G PLCL2 phospholipase C like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,736,430...17,015,531
Ensembl chr 3:17,154,500...17,351,287
JBrowse link
G PP2D1 protein phosphatase 2C like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,903,905...19,930,536
Ensembl chr 3:20,233,831...20,261,322
JBrowse link
G RAB5A RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,866,110...19,903,701
Ensembl chr 3:20,197,067...20,234,579
JBrowse link
G RBSN rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,994,647...15,023,733
Ensembl chr 3:15,333,359...15,362,361
JBrowse link
G RFTN1 raftlin, lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,241,255...16,441,402
Ensembl chr 3:16,578,092...16,778,464
JBrowse link
G SATB1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:18,267,819...18,368,924
Ensembl chr 3:18,602,204...18,681,211
JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306
JBrowse link
G SH3BP5 SH3 domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,180,369...15,257,951
Ensembl chr 3:15,517,447...15,594,971
JBrowse link
G SLC6A6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,323,251...14,411,949
Ensembl chr 3:14,663,955...14,752,326
JBrowse link
G TBC1D5 TBC1 domain family member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:17,080,589...17,664,776
Ensembl chr 3:17,416,307...17,768,132
JBrowse link
G THUMPD3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 3:9,315,275...9,338,096
Ensembl chr 3:9,557,894...9,581,157
JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587
JBrowse link
G WNT7A Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:13,733,487...13,797,189
Ensembl chr 3:14,077,839...14,138,386
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 chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377
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 chr17:66,028,737...66,034,122 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 chr 9:650,678...778,519
Ensembl chr 9:844,366...972,656
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 chr 1:219,660,496...219,669,134
Ensembl chr 1:225,042,281...225,050,259
JBrowse link
Chromosome 11, Partial Trisomy 11q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:100,969,185...100,990,296
Ensembl chr11:104,452,913...104,474,063
JBrowse link
G ABCG4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,987,709...114,001,354
Ensembl chr11:117,916,043...117,929,636
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ACRV1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:120,493,328...120,502,632
Ensembl chr11:124,406,467...124,415,043
JBrowse link
G ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:125,264,129...125,291,655
Ensembl chr11:129,154,895...129,182,326
JBrowse link
G ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:125,220,258...125,244,841
Ensembl chr11:129,112,176...129,136,928
JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,659,847...106,757,451
Ensembl chr11:110,511,860...110,601,179
JBrowse link
G ALKBH8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:102,390,687...102,456,357
Ensembl chr11:105,872,588...105,937,472
JBrowse link
G ANKK1 ankyrin repeat and kinase domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:108,267,717...108,280,635
Ensembl chr11:112,111,003...112,123,382
JBrowse link
G APLP2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:124,881,191...124,944,472
Ensembl chr11:128,775,329...128,847,482
JBrowse link
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
JBrowse link
G APOA4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382
JBrowse link
G APOA5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:111,625,403...111,627,932
Ensembl chr11:115,559,231...115,562,286
JBrowse link
G APOC3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460
JBrowse link
G ARCN1 archain 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,411,166...113,441,792
Ensembl chr11:117,341,427...117,371,589
JBrowse link
G ARHGAP20 Rho GTPase activating protein 20 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:105,457,931...105,593,644
Ensembl chr11:109,289,419...109,437,294
JBrowse link
G ARHGAP32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:123,780,028...124,096,494
Ensembl chr11:127,684,622...127,909,822
JBrowse link
G ARHGEF12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:115,173,575...115,327,040
Ensembl chr11:119,098,903...119,251,522
JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G ATP5MG ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,236,010...113,243,661
Ensembl chr11:117,167,404...117,200,030
JBrowse link
G B3GAT1 beta-1,3-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:129,200,676...129,269,650
Ensembl chr11:133,089,603...133,117,492
JBrowse link
G BACE1 beta-secretase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:112,120,950...112,151,505
Ensembl chr11:116,054,303...116,084,812
JBrowse link
G BARX2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:124,187,026...124,264,154
Ensembl chr11:128,086,409...128,162,833
JBrowse link
G BCL9L BCL9 like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,735,852...113,765,811
Ensembl chr11:117,666,995...117,678,598
JBrowse link
G BCO2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:107,056,525...107,105,358
Ensembl chr11:110,899,703...110,942,547
JBrowse link
G BLID BH3-like motif containing, cell death inducer ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:116,952,577...116,966,026 JBrowse link
G BSX brain specific homeobox ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:117,807,856...117,815,571
Ensembl chr11:121,731,049...121,735,101
JBrowse link
G BTG4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,374,407...106,394,341
Ensembl chr11:110,219,490...110,236,589
JBrowse link
G BUD13 BUD13 homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:111,583,588...111,610,703
Ensembl chr11:115,517,647...115,545,098
JBrowse link
G C11H11orf52 chromosome 11 C11orf52 homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,805,449...106,813,628
Ensembl chr11:110,649,474...110,657,531
JBrowse link
G C11H11orf65 chromosome 11 C11orf65 homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886
JBrowse link
G C11H11orf71 chromosome 11 C11orf71 homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:109,273,236...109,274,722
Ensembl chr11:113,108,478...113,117,573
JBrowse link
G C11H11orf87 chromosome 11 C11orf87 homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:104,308,303...104,315,320
Ensembl chr11:107,776,999...107,777,592
JBrowse link
G C1QTNF5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:114,179,998...114,187,761
Ensembl chr11:118,107,706...118,108,774
JBrowse link
G C2CD2L C2CD2 like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,944,939...113,955,296
Ensembl chr11:117,875,077...117,883,581
JBrowse link
G CADM1 cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:110,008,314...110,347,876
Ensembl chr11:113,950,291...114,280,324
JBrowse link
G CARD16 caspase recruitment domain family member 16 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:99,981,854...99,985,839
Ensembl chr11:103,467,368...103,468,288
JBrowse link
G CASP1 caspase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:99,965,964...99,975,640
Ensembl chr11:103,448,497...103,458,149
Ensembl chr11:103,448,497...103,458,149
JBrowse link
G CASP5 caspase 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:99,931,066...99,963,652 JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671
JBrowse link
G CCDC15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,781,702...119,872,629
Ensembl chr11:123,696,718...123,782,549
JBrowse link
G CCDC153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:114,028,927...114,034,620
Ensembl chr11:117,956,945...117,962,655
JBrowse link
G CDON cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:120,772,160...120,877,529
Ensembl chr11:124,685,084...124,786,091
JBrowse link
G CENATAC centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,836,400...113,853,928
Ensembl chr11:117,766,526...117,784,125
JBrowse link
G CEP164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:112,157,774...112,249,004
Ensembl chr11:116,106,847...116,180,516
JBrowse link
G CFAP68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,764,776...106,772,501
Ensembl chr11:110,608,823...110,614,652
JBrowse link
G CHEK1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:120,446,352...120,478,207
Ensembl chr11:124,359,218...124,390,981
JBrowse link
G CLDN25 claudin 25 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:108,658,470...108,659,159
Ensembl chr11:112,500,922...112,501,611
JBrowse link
G CLMP CXADR like membrane protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:117,902,792...118,023,936
Ensembl chr11:121,824,398...121,942,055
JBrowse link
G CRTAM cytotoxic and regulatory T cell molecule ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:117,671,581...117,705,818
Ensembl chr11:121,591,738...121,625,738
JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,795,406...106,800,019
Ensembl chr11:110,639,442...110,644,272
JBrowse link
G CUL5 cullin 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:102,895,611...102,994,447
Ensembl chr11:106,371,759...106,469,989
JBrowse link
G CWF19L2 CWF19 like cell cycle control factor 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:102,219,339...102,345,865
Ensembl chr11:105,702,934...105,828,149
JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,722,084...113,735,987
Ensembl chr11:117,652,368...117,664,852
JBrowse link
G DCPS decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:121,119,720...121,159,513
Ensembl chr11:125,028,616...125,068,807
JBrowse link
G DDX10 DEAD-box helicase 10 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:103,549,629...103,826,262
Ensembl chr11:107,018,798...107,293,248
JBrowse link
G DDX25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:120,718,758...120,738,527
Ensembl chr11:124,632,841...124,667,585
JBrowse link
G DDX6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,587,220...113,630,995
Ensembl chr11:117,515,778...117,559,364
JBrowse link
G DIXDC1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,813,905...106,908,898
Ensembl chr11:110,657,803...110,753,114
JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,910,857...106,950,851
Ensembl chr11:110,756,001...110,792,795
JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,934,705...113,940,535
Ensembl chr11:117,863,866...117,870,204
JBrowse link
G DRD2 dopamine receptor D2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:108,289,838...108,357,174
Ensembl chr11:112,132,703...112,198,935
JBrowse link
G DSCAML1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:112,263,509...112,632,332
Ensembl chr11:116,196,677...116,302,262
JBrowse link
G EI24 EI24 autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:120,389,136...120,404,347
Ensembl chr11:124,302,289...124,317,346
JBrowse link
G ELMOD1 ELMO domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:102,481,649...102,557,478
Ensembl chr11:105,989,544...106,034,696
JBrowse link
G ESAM endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,580,140...119,589,338
Ensembl chr11:123,495,779...123,504,938
JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:123,272,111...123,400,413
Ensembl chr11:127,174,721...127,288,673
JBrowse link
G EXPH5 exophilin 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:103,390,256...103,478,587
Ensembl chr11:106,863,716...106,947,586
JBrowse link
G FAM118B family with sequence similarity 118 member B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:121,025,604...121,076,860
Ensembl chr11:124,936,564...124,988,051
JBrowse link
G FDX1 ferredoxin 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:105,311,613...105,345,414 JBrowse link
G FDXACB1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,759,471...106,764,721
Ensembl chr11:110,603,654...110,609,074
JBrowse link
G FEZ1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:120,272,187...120,322,600
Ensembl chr11:124,182,901...124,236,403
JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:123,506,859...123,626,024
Ensembl chr11:127,409,301...127,530,312
JBrowse link
G FOXR1 forkhead box R1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,809,875...113,819,093
Ensembl chr11:117,740,678...117,750,262
JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:121,083,245...121,096,296
Ensembl chr11:124,993,070...125,005,798
JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:112,654,774...112,666,630
Ensembl chr11:116,587,226...116,595,197
JBrowse link
G FXYD6 FXYD domain containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:112,671,570...112,712,085
Ensembl chr11:116,606,903...116,609,890
JBrowse link
G GLB1L2 galactosidase beta 1 like 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:129,184,833...129,233,585
Ensembl chr11:133,052,848...133,087,425
JBrowse link
G GLB1L3 galactosidase beta 1 like 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:129,126,472...129,172,535
Ensembl chr11:132,987,384...133,029,890
JBrowse link
G GRAMD1B GRAM domain containing 1B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:118,191,126...118,459,439
Ensembl chr11:122,180,541...122,371,035
JBrowse link
G GRIA4 glutamate ionotropic receptor AMPA type subunit 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:100,498,632...100,873,764
Ensembl chr11:103,983,862...104,355,280
JBrowse link
G GRIK4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:115,348,836...115,827,873
Ensembl chr11:119,564,412...119,750,000
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:101,565,279...101,910,136 JBrowse link
G HEPACAM hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,746,915...119,764,062
Ensembl chr11:123,663,210...123,678,015
JBrowse link
G HEPN1 hepatocellular carcinoma, down-regulated 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,746,926...119,748,366
Ensembl chr11:123,661,843...123,662,109
JBrowse link
G HINFP histone H4 transcription factor ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,959,670...113,973,781
Ensembl chr11:117,888,855...117,902,184
JBrowse link
G HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757
JBrowse link
G HOATZ HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,394,354...106,419,546
Ensembl chr11:110,238,843...110,263,946
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:117,890,545...117,895,262
Ensembl chr11:121,809,800...121,815,773
JBrowse link
G HSPB2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,798,674...106,800,861
Ensembl chr11:110,642,933...110,644,893
JBrowse link
G HTR3A 5-hydroxytryptamine receptor 3A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:108,851,954...108,869,119
Ensembl chr11:112,695,891...112,711,695
JBrowse link
G HTR3B 5-hydroxytryptamine receptor 3B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:108,783,514...108,825,266
Ensembl chr11:112,624,864...112,671,439
JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:120,703,436...120,716,415 JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,882,418...113,895,438
Ensembl chr11:117,812,975...117,824,005
JBrowse link
G IFT46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,382,150...113,404,866
Ensembl chr11:117,312,894...117,335,319
JBrowse link
G IGSF9B immunoglobulin superfamily member 9B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:128,734,144...128,802,383
Ensembl chr11:132,615,398...132,664,811
JBrowse link
G IL10RA interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:112,820,445...112,835,603
Ensembl chr11:116,752,619...116,767,771
JBrowse link
G IL18 interleukin 18 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G JAM3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:128,916,024...129,006,497
Ensembl chr11:132,783,580...132,864,657
JBrowse link
G JAML junction adhesion molecule like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,027,829...113,062,344
Ensembl chr11:116,960,436...116,994,373
JBrowse link
G JHY junctional cadherin complex regulator ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:117,716,064...117,793,476
Ensembl chr11:121,639,251...121,712,928
JBrowse link
G KBTBD3 kelch repeat and BTB domain containing 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:100,938,438...100,969,353
Ensembl chr11:104,426,554...104,453,162
JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:123,649,466...123,680,149
Ensembl chr11:127,553,327...127,557,860
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:123,705,361...123,735,370
Ensembl chr11:127,606,208...127,634,213
JBrowse link
G KCNJ5-AS1 KCNJ5 antisense RNA 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:123,715,331...123,718,621
Ensembl chr11:127,615,846...127,621,983
JBrowse link
G KIRREL3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:121,236,962...121,821,806
Ensembl chr11:125,146,563...125,723,504
JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100
JBrowse link
G LAYN layilin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,423,134...106,443,237
Ensembl chr11:110,267,762...110,287,935
JBrowse link
G LINC02873 long intergenic non-protein coding RNA 2873 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:125,487,375...125,532,848 JBrowse link
G LOC100969411 olfactory receptor 10G8 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:118,858,083...118,859,115 JBrowse link
G LOC100969759 olfactory receptor 10G7 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:118,866,310...118,867,475
Ensembl chr11:122,783,013...122,783,948
JBrowse link
G LOC100970104 olfactory receptor 6T1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:118,771,165...118,772,241
Ensembl chr11:122,688,041...122,689,012
JBrowse link
G LOC100970443 olfactory receptor 10S1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:118,805,119...118,806,084 JBrowse link
G LOC100971133 olfactory receptor 4D5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:118,767,919...118,769,000
Ensembl chr11:122,684,788...122,685,744
JBrowse link
G LOC100971476 olfactory receptor 6M1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:118,633,962...118,635,927
Ensembl chr11:122,552,151...122,553,092
JBrowse link
G LOC100972169 olfactory receptor 8D4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:118,734,966...118,736,039
Ensembl chr11:122,651,884...122,652,828
JBrowse link
G LOC100972492 olfactory receptor 6X1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:118,583,457...118,584,395
Ensembl chr11:122,500,073...122,501,011
JBrowse link
G LOC100975221 olfactory receptor 8G1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,077,808...119,078,937 JBrowse link
G LOC100978919 T-cell surface glycoprotein CD3 epsilon chain ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,142,200...113,153,928
Ensembl chr11:117,074,041...117,085,625
JBrowse link
G LOC100979261 T-cell surface glycoprotein CD3 gamma chain ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,179,270...113,190,104
Ensembl chr11:117,111,132...117,120,566
JBrowse link
G LOC100979946 T-cell surface glycoprotein CD3 delta chain ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,174,007...113,179,244
Ensembl chr11:117,105,868...117,111,051
JBrowse link
G LOC100983381 protein NPAT ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:103,044,313...103,109,809
Ensembl chr11:106,519,614...106,584,034
JBrowse link
G LOC100985633 caspase-1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:100,031,979...100,041,771
Ensembl chr11:103,522,260...103,524,354
JBrowse link
G LOC100991353 caspase-4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:99,883,353...99,909,185
Ensembl chr11:103,366,138...103,391,824
JBrowse link
G LOC100992664 olfactory receptor 8A1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,395,269...119,396,731
Ensembl chr11:123,310,904...123,311,884
JBrowse link
G LOC100993012 olfactory receptor 8B12 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,367,996...119,368,928 JBrowse link
G LOC100994056 olfactory receptor 8B4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,250,801...119,251,733 JBrowse link
G LOC100994157 histone H2AX ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,932,078...113,933,679 JBrowse link
G LOC100994750 olfactory receptor 8D2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,159,744...119,160,782
Ensembl chr11:123,075,429...123,076,364
JBrowse link
G LOC100995418 olfactory receptor 8G5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,099,240...119,100,454
Ensembl chr11:123,015,013...123,016,053
JBrowse link
G LOC112441186 olfactory receptor 8B3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,223,013...119,224,485 JBrowse link
G MCAM melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:114,149,583...114,158,234
Ensembl chr11:118,078,179...118,083,893
JBrowse link
G MFRP membrane frizzled-related protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:114,179,998...114,187,716
Ensembl chr11:118,107,317...118,115,050
JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,063,961...113,102,097
Ensembl chr11:117,023,102...117,034,209
JBrowse link
G MPZL3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,063,957...113,089,929
Ensembl chr11:116,996,090...117,022,051
JBrowse link
G MSANTD2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,593,493...119,628,962
Ensembl chr11:123,509,696...123,543,184
JBrowse link
G MSANTD4 Myb/SANT DNA binding domain containing 4 with coiled-coils ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:100,899,541...100,913,926
Ensembl chr11:104,383,412...104,397,702
JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401
JBrowse link
G NCAPD3 non-SMC condensin II complex subunit D3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:129,005,365...129,078,581
Ensembl chr11:132,865,349...132,935,590
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090
JBrowse link
G NFRKB nuclear factor related to kappaB binding protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:124,676,456...124,708,349
Ensembl chr11:128,572,240...128,601,779
JBrowse link
G NHERF4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:114,024,150...114,028,884
Ensembl chr11:117,952,154...117,956,879
JBrowse link
G NKAPD1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,960,669...106,971,584
Ensembl chr11:110,804,481...110,815,338
JBrowse link
G NLRX1 NLR family member X1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:114,007,415...114,022,712
Ensembl chr11:117,935,444...117,950,728
JBrowse link
G NNMT nicotinamide N-methyltransferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:109,174,490...109,186,758
Ensembl chr11:113,016,613...113,029,581
JBrowse link
G NRGN neurogranin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,566,934...119,574,248 JBrowse link
G NTM neurotrimin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:126,189,660...127,154,890
Ensembl chr11:130,617,876...131,037,876
JBrowse link
G NXPE1 neurexophilin and PC-esterase domain family member 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:109,395,176...109,433,810
Ensembl chr11:113,238,153...113,276,278
JBrowse link
G NXPE2 neurexophilin and PC-esterase domain family member 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:109,341,362...109,556,238
Ensembl chr11:113,466,008...113,490,392
JBrowse link
G NXPE4 neurexophilin and PC-esterase domain family member 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:109,444,062...109,465,161 JBrowse link
G OAF out at first homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:115,045,790...115,065,032
Ensembl chr11:118,972,574...118,991,170
JBrowse link
G OPCML opioid binding protein/cell adhesion molecule like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:127,233,465...128,377,367 JBrowse link
G PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:111,978,368...112,005,064
Ensembl chr11:115,911,803...115,944,351
JBrowse link
G PANX3 pannexin 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,438,866...119,452,174
Ensembl chr11:123,354,919...123,363,463
JBrowse link
G PATE1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:120,565,280...120,568,857
Ensembl chr11:124,478,417...124,480,839
JBrowse link
G PATE2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:120,595,136...120,703,189
Ensembl chr11:124,509,500...124,510,891
JBrowse link
G PATE3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:120,607,720...120,611,235
Ensembl chr11:124,520,239...124,523,719
JBrowse link
G PATE4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:120,651,794...120,659,020
Ensembl chr11:124,565,341...124,572,090
JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,446,275...113,496,941
Ensembl chr11:117,376,205...117,426,391
JBrowse link
G PIH1D2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,938,450...106,960,535
Ensembl chr11:110,798,074...110,804,506
JBrowse link
G PKNOX2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,991,916...120,259,800
Ensembl chr11:124,072,715...124,173,865
JBrowse link
G PLET1 placenta expressed transcript 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:107,126,523...107,141,857
Ensembl chr11:110,971,824...110,984,838
JBrowse link
G POGLUT3 protein O-glucosyltransferase 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:103,356,813...103,383,515
Ensembl chr11:106,827,056...106,853,166
JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,231,870...106,258,822
Ensembl chr11:110,078,850...110,103,996
JBrowse link
G POU2AF2 POU class 2 homeobox associating factor 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,125,675...106,165,907
Ensembl chr11:109,971,255...110,011,080
JBrowse link
G POU2AF3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,178,653...106,188,354
Ensembl chr11:110,023,207...110,033,060
JBrowse link
G POU2F3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:115,075,399...115,156,307
Ensembl chr11:119,001,408...119,082,531
JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,609,754...106,651,811
Ensembl chr11:110,465,475...110,495,908
JBrowse link
G PRDM10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:124,712,440...124,816,141
Ensembl chr11:128,607,600...128,710,156
JBrowse link
G PTS 6-pyruvoyltetrahydropterin synthase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:107,107,114...107,114,594
Ensembl chr11:110,949,708...110,957,599
JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:120,709,264...120,718,773
Ensembl chr11:124,622,279...124,629,508
JBrowse link
G RAB39A RAB39A, member RAS oncogene family ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:102,814,825...102,851,700
Ensembl chr11:106,291,348...106,326,587
JBrowse link
G RBM7 RNA binding motif protein 7 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:109,274,678...109,284,568
Ensembl chr11:113,117,771...113,131,348
JBrowse link
G RDX radixin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:105,075,716...105,176,660
Ensembl chr11:108,921,477...109,005,557
JBrowse link
G REXO2 RNA exonuclease 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:109,313,231...109,323,794
Ensembl chr11:113,156,189...113,166,767
JBrowse link
G RNF214 ring finger protein 214 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:112,066,666...112,121,051
Ensembl chr11:116,002,034...116,054,282
JBrowse link
G RNF26 ring finger protein 26 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:114,175,586...114,178,379
Ensembl chr11:118,103,505...118,104,806
JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,692,232...119,708,309
Ensembl chr11:123,607,268...123,623,356
JBrowse link
G ROBO4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,711,023...119,724,701
Ensembl chr11:123,626,063...123,639,837
JBrowse link
G RPS25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,853,891...113,856,636
Ensembl chr11:117,784,075...117,787,104
JBrowse link
G RPUSD4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:120,997,815...121,025,558
Ensembl chr11:124,926,910...124,936,621
JBrowse link
G SC5D sterol-C5-desaturase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:116,139,979...116,160,745
Ensembl chr11:120,063,743...120,078,386
JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:112,996,609...113,010,412
Ensembl chr11:116,928,676...116,942,500
JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:118,460,860...118,486,563
Ensembl chr11:122,377,643...122,403,063
JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:112,967,190...112,986,727
Ensembl chr11:116,899,268...116,918,892
JBrowse link
G SIAE sialic acid acetylesterase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,463,554...119,503,192
Ensembl chr11:123,378,866...123,416,935
JBrowse link
G SIDT2 SID1 transmembrane family member 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:112,012,734...112,031,403
Ensembl chr11:115,946,725...115,963,408
JBrowse link
G SIK2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,484,913...106,613,711
Ensembl chr11:110,329,237...110,453,543
JBrowse link
G SIK3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:111,680,884...111,932,424
Ensembl chr11:115,613,478...115,730,158
JBrowse link
G SLC35F2 solute carrier family 35 member F2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:102,681,791...102,750,821
Ensembl chr11:106,159,625...106,227,656
JBrowse link
G SLC37A2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,890,340...119,917,731
Ensembl chr11:123,804,677...123,832,326
JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,862,537...113,869,447
Ensembl chr11:117,792,700...117,799,269
JBrowse link
G SLN sarcolipin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:102,598,123...102,602,917 JBrowse link
G SNX19 sorting nexin 19 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:125,691,537...125,732,206
Ensembl chr11:129,581,876...129,622,517
JBrowse link
G SORL1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:116,297,014...116,477,399
Ensembl chr11:120,222,491...120,402,432
JBrowse link
G SPA17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,501,604...119,526,103
Ensembl chr11:123,416,725...123,437,818
JBrowse link
G SPATA19 spermatogenesis associated 19 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 Ensembl chr11:132,550,916...132,555,821 JBrowse link
G SRPRA SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:121,071,054...121,083,106
Ensembl chr11:124,987,307...124,993,347
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559
JBrowse link
G ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:121,169,213...121,228,287
Ensembl chr11:125,079,260...125,141,737
JBrowse link
G STT3A STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:120,412,488...120,440,713
Ensembl chr11:124,325,762...124,353,596
JBrowse link
G TAGLN transgelin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:112,033,257...112,038,749
Ensembl chr11:115,966,516...115,972,129
JBrowse link
G TBRG1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,450,666...119,463,685
Ensembl chr11:123,365,974...123,378,463
JBrowse link
G TEX12 testis expressed 12 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:107,048,417...107,053,655
Ensembl chr11:110,817,016...110,896,829
JBrowse link
G THY1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:114,253,535...114,259,495
Ensembl chr11:118,180,717...118,186,901
JBrowse link
G THYN1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:129,101,422...129,106,521
Ensembl chr11:132,958,850...132,963,911
JBrowse link
G TIMM8B translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:106,971,579...106,973,226
Ensembl chr11:110,815,333...110,816,980
JBrowse link
G TIRAP TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:121,100,558...121,112,844
Ensembl chr11:125,018,064...125,022,309
JBrowse link
G TLCD5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:115,161,556...115,170,850
Ensembl chr11:119,087,580...119,093,621
JBrowse link
G TMEM218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,924,220...119,938,931
Ensembl chr11:123,839,054...123,843,682
JBrowse link
G TMEM225 transmembrane protein 225 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:118,711,832...118,715,420
Ensembl chr11:122,628,109...122,631,425
JBrowse link
G TMEM25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,368,595...113,384,290
Ensembl chr11:117,299,183...117,314,494
JBrowse link
G TMEM45B transmembrane protein 45B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:124,629,967...124,673,385
Ensembl chr11:128,526,824...128,568,268
JBrowse link
G TMPRSS13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:112,735,048...112,763,561
Ensembl chr11:116,666,773...116,686,762
JBrowse link
G TMPRSS4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:112,910,223...112,953,677
Ensembl chr11:116,843,287...116,884,767
JBrowse link
G TMPRSS5 transmembrane serine protease 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:108,566,007...108,585,002
Ensembl chr11:112,408,976...112,427,704
JBrowse link
G TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:123,748,770...123,757,797
Ensembl chr11:127,650,841...127,659,213
JBrowse link
G TRAPPC4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,856,661...113,861,855
Ensembl chr11:117,786,838...117,793,395
JBrowse link
G TREH trehalase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,496,561...113,519,230
Ensembl chr11:117,426,597...117,448,445
JBrowse link
G TRIM29 tripartite motif containing 29 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:114,946,176...114,973,186
Ensembl chr11:118,872,831...118,899,708
JBrowse link
G TTC12 tetratricopeptide repeat domain 12 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:108,194,610...108,253,161
Ensembl chr11:112,037,620...112,106,537
JBrowse link
G TTC36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,364,559...113,368,586
Ensembl chr11:117,295,191...117,298,928
JBrowse link
G UBASH3B ubiquitin associated and SH3 domain containing B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:117,489,411...117,647,719
Ensembl chr11:121,410,545...121,563,133
JBrowse link
G UBE4A ubiquitination factor E4A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,193,986...113,233,660
Ensembl chr11:117,131,100...117,162,385
JBrowse link
G UPK2 uroplakin 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,768,506...113,796,564
Ensembl chr11:117,724,038...117,726,313
JBrowse link
G USP2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:114,196,725...114,223,411
Ensembl chr11:118,124,350...118,150,868
JBrowse link
G USP28 ubiquitin specific peptidase 28 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:108,676,566...108,754,372
Ensembl chr11:112,517,693...112,595,585
JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:113,905,989...113,920,163
Ensembl chr11:117,835,557...117,849,389
JBrowse link
G VPS26B VPS26 retromer complex component B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:129,077,964...129,100,936
Ensembl chr11:132,936,077...132,958,364
JBrowse link
G VSIG2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:119,573,939...119,579,988
Ensembl chr11:123,490,150...123,495,720
JBrowse link
G VWA5A von Willebrand factor A domain containing 5A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:118,943,755...118,974,886
Ensembl chr11:122,860,255...122,891,317
JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:108,938,414...109,133,819
Ensembl chr11:112,780,380...112,977,164
JBrowse link
G ZBTB44 zinc finger and BTB domain containing 44 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:125,037,645...125,125,711
Ensembl chr11:128,929,826...128,964,790
JBrowse link
G ZC3H12C zinc finger CCCH-type containing 12C ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:104,975,798...105,054,382
Ensembl chr11:108,859,581...108,899,858
JBrowse link
G ZNF202 zinc finger protein 202 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:118,554,313...118,572,473
Ensembl chr11:122,470,920...122,488,201
JBrowse link
G ZPR1 ZPR1 zinc finger ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:111,613,940...111,623,539
Ensembl chr11:115,547,973...115,557,883
JBrowse link
G ZW10 zw10 kinetochore protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr11:108,611,818...108,652,444
Ensembl chr11:112,454,637...112,495,316
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 chr11:31,473,439...31,754,446 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 chr11:31,753,190...31,782,225
Ensembl chr11:31,641,813...31,664,474
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 chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249
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 chr13:58,166,872...58,176,146
Ensembl chr13:77,211,430...77,222,201
JBrowse link
G ALG11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,144,708...33,166,033
Ensembl chr13:51,888,738...51,905,894
JBrowse link
G ARL11 ADP ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,767,431...30,770,962
Ensembl chr13:49,518,030...49,518,620
JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839
JBrowse link
G BORA BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:53,956,913...53,985,355
Ensembl chr13:72,733,006...72,761,432
JBrowse link
G C13H13orf42 chromosome 13 C13orf42 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,216,898...32,247,120 JBrowse link
G CAB39L calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,446,643...30,584,608
Ensembl chr13:49,198,143...49,288,816
JBrowse link
G CCDC70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,991,931...32,997,329
Ensembl chr13:51,741,930...51,742,631
JBrowse link
G CDADC1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,386,671...30,432,112
Ensembl chr13:49,138,498...49,186,541
JBrowse link
G CKAP2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,371,744...33,393,483
Ensembl chr13:52,378,278...52,399,608
JBrowse link
G CLN5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,207,542...58,220,697
Ensembl chr13:77,253,203...77,263,759
JBrowse link
G CNMD chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,737,029...33,776,588
Ensembl chr13:52,547,943...52,584,720
JBrowse link
G COMMD6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:56,752,787...56,764,664
Ensembl chr13:75,526,128...75,537,499
JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,796,598...29,853,676
Ensembl chr13:48,551,757...48,552,797
JBrowse link
G DACH1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,666,569...53,098,257 JBrowse link
G DHRS12 dehydrogenase/reductase 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,897,182...32,932,715
Ensembl chr13:51,642,208...51,672,203
JBrowse link
G DIAPH3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:40,846,270...41,335,920
Ensembl chr13:59,676,307...60,056,672
JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:53,982,914...54,011,076
Ensembl chr13:72,760,610...72,787,325
JBrowse link
G DLEU7 deleted in lymphocytic leukemia 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:31,834,182...31,982,703
Ensembl chr13:50,706,111...50,726,445
JBrowse link
G EBPL EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,799,832...30,830,670
Ensembl chr13:49,548,230...49,578,820
JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:59,112,349...59,136,615
Ensembl chr13:78,153,020...78,177,286
JBrowse link
G FAM124A family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,356,260...32,418,132
Ensembl chr13:51,101,704...51,163,916
JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,219,260...58,244,780
Ensembl chr13:77,266,496...77,283,651
JBrowse link
G FNDC3A fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,119,740...30,347,544
Ensembl chr13:48,820,018...49,049,274
JBrowse link
G HNRNPA1L2 heterogeneous nuclear ribonucleoprotein A1 like 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,653,693...33,680,196
Ensembl chr13:52,487,132...52,488,093
JBrowse link
G INTS6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,487,169...32,583,415
Ensembl chr13:51,242,452...51,327,882
JBrowse link
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,383,318...29,412,018 JBrowse link
G KCNRG potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:31,154,531...31,161,081
Ensembl chr13:49,901,696...49,908,169
JBrowse link
G KCTD12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,097,764...58,104,972 JBrowse link
G KLF12 KLF transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:54,916,443...55,535,131
Ensembl chr13:73,697,912...73,996,956
JBrowse link
G KLF5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar
G KLHL1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,906,581...51,335,692
Ensembl chr13:69,691,537...70,118,448
JBrowse link
G KPNA3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,838,320...30,931,608
Ensembl chr13:49,586,544...49,679,906
JBrowse link
G LMO7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:56,846,724...57,084,178
Ensembl chr13:75,894,529...76,130,080
JBrowse link
G LOC100982148 LMO7 downstream neighbor protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,096,039...57,109,497 JBrowse link
G LOC100983617 protocadherin-8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,880,543...33,886,243
Ensembl chr13:52,688,522...52,692,399
JBrowse link
G LOC100992351 putative UPF0607 protein ENSP00000383144 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,877,777...58,879,200 JBrowse link
G LOC117975530 proline-rich protein 20E ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:38,340,469...38,342,105 JBrowse link
G LOC130540719 uncharacterized LOC130540719 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar
G LPAR6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,561,219...29,567,414
Ensembl chr13:48,263,254...48,264,291
JBrowse link
G MED4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,227,620...29,247,082
Ensembl chr13:47,929,918...47,948,836
JBrowse link
G MLNR motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,358,092...30,362,419
Ensembl chr13:49,109,918...49,111,850
JBrowse link
G MYCBP2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,262,251...58,544,819
Ensembl chr13:77,306,509...77,586,843
JBrowse link
G MZT1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:53,937,689...53,956,954 JBrowse link
G NDFIP2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,717,590...60,792,373
Ensembl chr13:79,745,362...79,820,286
JBrowse link
G NEK3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,261,186...33,288,316
Ensembl chr13:52,003,518...52,030,212
JBrowse link
G NEK5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,166,069...33,260,990
Ensembl chr13:51,938,342...51,998,357
JBrowse link
G NUDT15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,189,459...29,198,825
Ensembl chr13:47,891,557...47,900,971
JBrowse link
G OBI1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:59,840,406...59,884,765
Ensembl chr13:78,874,466...78,918,446
JBrowse link
G OLFM4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:34,066,155...34,089,468
Ensembl chr13:52,873,289...52,896,827
JBrowse link
G PCDH17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:38,801,514...38,900,811
Ensembl chr13:57,532,850...57,631,725
JBrowse link
G PCDH20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:42,582,806...42,588,890
Ensembl chr13:61,300,554...61,318,534
JBrowse link
G PCDH9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:47,512,960...48,430,521
Ensembl chr13:66,310,212...67,222,134
JBrowse link
G PHF11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,636,035...30,670,262
Ensembl chr13:49,386,374...49,419,310
JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:54,011,239...54,247,952
Ensembl chr13:72,788,608...73,022,473
JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:59,821,614...59,829,671 JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
JBrowse link
G RBM26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,547,197...60,642,551
Ensembl chr13:79,585,632...79,670,999
JBrowse link
G RCBTB1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,673,230...30,727,480
Ensembl chr13:49,422,283...49,475,857
JBrowse link
G RCBTB2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,631,741...29,675,959
Ensembl chr13:48,332,860...48,377,336
JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,047,830...32,108,573
Ensembl chr13:50,795,701...50,852,909
JBrowse link
G SCEL sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,772,893...58,861,813
Ensembl chr13:77,795,230...77,904,016
JBrowse link
G SERPINE3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,475,429...32,496,700
Ensembl chr13:51,220,735...51,241,791
JBrowse link
G SETDB2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,584,762...30,635,408
Ensembl chr13:49,335,894...49,386,150
JBrowse link
G SLAIN1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,914,327...58,981,193 JBrowse link
G SLITRK1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:65,081,844...65,087,135
Ensembl chr13:84,253,287...84,256,069
JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,990,025...67,003,900
Ensembl chr13:86,161,905...86,164,430
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:61,569,658...61,574,817
Ensembl chr13:80,596,346...80,597,408
JBrowse link
G SPRYD7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:31,053,278...31,076,746
Ensembl chr13:49,801,309...49,824,463
JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,095,062...29,189,618
Ensembl chr13:47,797,472...47,856,138
JBrowse link
G SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,688,941...33,724,687
Ensembl chr13:52,497,557...52,532,434
JBrowse link
G TBC1D4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:56,513,065...56,706,491
Ensembl chr13:75,282,441...75,361,729
JBrowse link
G TDRD3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:41,568,080...41,750,288
Ensembl chr13:60,290,518...60,470,245
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,442,480...33,472,259
Ensembl chr13:52,301,206...52,330,504
JBrowse link
G TMEM272 transmembrane protein 272 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,940,896...33,065,397 JBrowse link
G TRIM13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:31,137,236...31,153,398
Ensembl chr13:49,889,041...49,900,488
JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:56,776,436...56,832,539
Ensembl chr13:75,549,647...75,878,673
JBrowse link
G UTP14C UTP14C small subunit processome component ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,144,810...33,166,033
Ensembl chr13:51,905,055...51,908,218
JBrowse link
G VPS36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,398,165...33,436,615
Ensembl chr13:52,336,484...52,372,851
JBrowse link
G WDFY2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,714,088...32,896,885
Ensembl chr13:51,535,071...51,636,052
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 chr15:167,863...400,296
Ensembl chr15:27,174,217...27,241,529
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 chr15:4,064,605...4,262,695
Ensembl chr15:23,090,927...23,275,674
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 chr 7:64,822,964...66,015,831
Ensembl chr 7:77,495,909...78,686,763
JBrowse link
G CCDC92B coiled-coil domain containing 92B ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,711,407...2,740,361 JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194
JBrowse link
G CLUH clustered mitochondria homolog ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,680,660...2,703,205
Ensembl chr17:2,685,994...2,700,587
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 Ensembl chr15:20,462,811...20,573,684 JBrowse link
G ENTREP2 endosomal transmembrane epsin interactor 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:400,828...861,377
Ensembl chr15:26,915,381...27,176,793
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 chr15:2,953,857...3,036,722
Ensembl chr15:24,300,300...24,382,730
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 chr15:3,129,481...3,357,495
Ensembl chr15:23,981,359...24,058,357
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 chr15:2,371,468...2,932,250
Ensembl chr15:24,409,611...24,959,987
JBrowse link
G GOLGA6L2 golgin A6 family like 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:6,213,121...6,224,509 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 chr15:1,590,558...1,800,023
Ensembl chr15:25,536,483...25,746,074
JBrowse link
G LOC117975960 golgin subfamily A member 6-like protein 7 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:126,343...133,909 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 chr15:6,017,523...6,021,849
Ensembl chr15:21,134,857...21,138,576
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 chr15:6,036,034...6,099,137 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 chr15:5,977,519...5,979,185 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 Ensembl chr15:20,617,547...20,655,686 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 Ensembl chr15:20,574,757...20,603,745 JBrowse link
G NPAP1 nuclear pore associated protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:5,268,210...5,272,017 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 chr15:550,856...552,543
Ensembl chr15:27,027,373...27,028,285
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 chr15:1,811,728...2,192,018
Ensembl chr15:25,181,386...25,523,774
JBrowse link
G OTUD7A OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr15:9,974,737...10,360,991 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 chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994
JBrowse link
G RAP1GAP2 RAP1 GTPase activating protein 2 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,742,454...3,031,659
Ensembl chr17:2,760,790...3,025,393
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 chr15:4,970,013...5,124,478
Ensembl chr15:22,347,242...22,371,062
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 chr15:4,971,565...4,993,651
Ensembl chr15:22,347,242...22,371,062
JBrowse link
G TJP1 tight junction protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:981,198...1,249,292
Ensembl chr15:26,344,878...26,598,878
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 Ensembl chr15:20,403,757...20,444,851 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 chr15:4,494,029...4,595,415
Ensembl chr15:22,747,075...22,825,459
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 chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194
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 chr15:9,395,348...9,435,434
Ensembl chr15:28,433,749...28,473,211
JBrowse link
G KLF13 KLF transcription factor 13 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:9,818,294...9,964,912 JBrowse link
G MTMR10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:9,431,261...9,484,107
Ensembl chr15:28,469,039...28,521,997
JBrowse link
G OTUD7A OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:9,974,737...10,360,991 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 chr15:9,492,500...9,653,644
Ensembl chr15:28,530,878...28,690,947
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 chr15:54,630,808...54,636,066
Ensembl chr15:74,225,859...74,229,571
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 chr15:54,252,289...54,256,637
Ensembl chr15:73,848,231...73,852,531
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 chr15:54,583,010...54,621,240
Ensembl chr15:74,177,909...74,200,498
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 chr15:54,547,455...54,548,633
Ensembl chr15:74,141,156...74,141,710
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 chr15:54,272,142...54,285,102
Ensembl chr15:73,868,134...73,880,704
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 chr15:54,263,424...54,271,601
Ensembl chr15:73,858,910...73,867,474
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 chr15:54,382,689...54,489,942
Ensembl chr15:73,978,147...74,034,204
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 chr15:54,285,587...54,371,376
Ensembl chr15:73,881,500...73,966,506
JBrowse link
G SNUPN snurportin 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr15:54,508,586...54,536,301
Ensembl chr15:74,102,753...74,126,511
JBrowse link
G SNX33 sorting nexin 33 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr15:54,556,304...54,570,683
Ensembl chr15:74,151,053...74,159,584
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 chr15:78,703,728...79,076,861
Ensembl chr15:97,999,448...98,366,893
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 chr15:79,603,893...79,640,866
Ensembl chr15:98,891,770...98,928,396
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 chr15:79,328,868...79,378,039
Ensembl chr15:98,616,797...98,666,094
JBrowse link
G CERS3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:79,128,338...79,272,018
Ensembl chr15:98,422,256...98,521,775
JBrowse link
G CHSY1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:79,901,340...79,976,067
Ensembl chr15:99,186,705...99,260,591
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 chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
JBrowse link
G LINS1 lines homolog 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:79,293,426...79,328,691
Ensembl chr15:98,583,906...98,616,407
JBrowse link
G LRRC28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:77,932,476...78,069,106
Ensembl chr15:97,117,104...97,250,570
JBrowse link
G LRRK1 leucine rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:79,642,908...79,793,990
Ensembl chr15:98,931,344...99,081,168
JBrowse link
G LYSMD4 LysM domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:78,396,860...78,413,774
Ensembl chr15:97,590,076...97,596,035
JBrowse link
G MEF2A myocyte enhancer factor 2A ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:78,246,439...78,396,720
Ensembl chr15:97,428,744...97,579,092
JBrowse link
G PGPEP1L pyroglutamyl-peptidase I like ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:77,651,265...77,791,570
Ensembl chr15:96,836,590...96,839,587
JBrowse link
G SYNM synemin ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:77,790,447...77,821,317
Ensembl chr15:96,975,160...97,002,412
JBrowse link
G TTC23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:77,821,847...77,932,769
Ensembl chr15:97,005,675...97,116,569
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 PMID:31690835
G ASPHD1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,268,390...30,273,581 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 Ensembl chr16:29,265,516...29,290,807
Ensembl chr16:29,265,516...29,290,807
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 Ensembl chr16:29,209,115...29,226,239 JBrowse link
G BOLA2B bolA family member 2B ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:31690835
G C16H16orf54 chromosome 16 C16orf54 homolog ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,117,052...30,117,726 JBrowse link
G C16H16orf92 chromosome 16 C16orf92 homolog ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,398,743...30,399,615 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 Ensembl chr16:29,320,734...29,327,481 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 Ensembl chr16:30,227,772...30,233,145 JBrowse link
G CORO1A coronin 1A ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,550,383...30,556,196 JBrowse link
G DOC2A double C2 domain alpha ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,378,922...30,384,142 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 Ensembl chr16:30,479,684...30,488,868 JBrowse link
G HIRIP3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,365,725...30,369,486 JBrowse link
G INO80E INO80 complex subunit E ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,369,610...30,379,198 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
G KIF22 kinesin family member 22 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,161,702...30,177,170 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
G LOC100995352 keratin-associated protein 10-2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868
G LOC103783265 pulmonary surfactant-associated protein A1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr10:76,571,312...76,575,820 JBrowse link
G LOC117978925 nuclear pore complex-interacting protein family member A7 ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,489,362...30,498,017 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 Ensembl chr16:30,049,806...30,070,469 JBrowse link
G MVP major vault protein ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,190,090...30,219,070 JBrowse link
G MVP-DT MVP divergent transcript ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868
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
G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,186,326...30,190,654 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 Ensembl chr16:30,450,467...30,464,446 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 Ensembl chr16:30,183,352...30,187,862 JBrowse link
G QPRT quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,049,806...30,070,469 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 Ensembl chr16:29,289,949...29,314,177 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 Ensembl chr16:30,240,276...30,267,689 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 Ensembl chr16:29,249,597...29,263,334 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
G SPN sialophorin ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,035,243...30,036,445 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
G SULT1A1 sulfotransferase family 1A member 1 ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar
G SULT1A3 sulfotransferase family 1A member 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:31690835
G TAOK2 TAO kinase 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,347,229...30,366,743 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 Ensembl chr16:30,460,305...30,467,070 JBrowse link
G TLCD3B TLC domain containing 3B ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,399,815...30,406,663 JBrowse link
G TMEM219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,327,890...30,346,316 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 Ensembl chr16:29,227,852...29,233,513 JBrowse link
G YPEL3 yippee like 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,467,490...30,471,256 JBrowse link
G ZG16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,149,307...30,151,579 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 chr16:16,305,281...16,385,601 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 chr16:16,443,579...16,526,061
Ensembl chr16:22,537,518...22,596,091
JBrowse link
G LOC100972888 cytochrome b-c1 complex subunit 2, mitochondrial ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr16:16,750,102...16,780,867
Ensembl chr16:22,263,433...22,294,137
JBrowse link
G MOSMO modulator of smoothened ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr16:16,645,508...16,725,434
Ensembl chr16:22,319,108...22,395,805
JBrowse link
G PDZD9 PDZ domain containing 9 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr16:16,731,845...16,775,963
Ensembl chr16:22,294,635...22,311,852
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 chr16:16,397,988...16,434,949
Ensembl chr16:22,609,181...22,645,511
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 chr16:16,540,166...16,569,799
Ensembl chr16:22,477,440...22,502,105
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 chr16:16,575,765...16,640,697
Ensembl chr16:22,403,518...22,468,186
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 chr16:48,001,408...48,004,620
Ensembl chr16:67,390,703...67,393,685
JBrowse link
G C16H16orf86 chromosome 16 C16orf86 homolog ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr16:48,010,721...48,012,660
Ensembl chr16:67,400,057...67,401,999
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 chr16:47,989,040...48,001,455
Ensembl chr16:67,378,353...67,390,709
JBrowse link
G CTCF CCCTC-binding factor ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr16:47,906,503...47,983,271
Ensembl chr16:67,302,952...67,372,041
JBrowse link
G ENKD1 enkurin domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr16:48,006,827...48,010,646
Ensembl chr16:67,396,162...67,399,956
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 chr16:48,018,181...48,067,345
Ensembl chr16:67,407,669...67,456,632
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 chr16:48,004,822...48,006,656
Ensembl chr16:67,394,252...67,395,991
JBrowse link
G RANBP10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr16:48,071,095...48,148,105
Ensembl chr16:67,460,311...67,536,892
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 chr17:11,508,245...11,705,023
Ensembl chr17:11,296,318...11,456,593
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14961032 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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 chr17:25,843,447...25,869,874 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 chr17:20,027,351...20,129,255
Ensembl chr17:20,325,282...20,426,359
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 chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651
JBrowse link
G C17H17orf78 chromosome 17 C17orf78 homolog ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr17:19,690,994...19,704,223
Ensembl chr17:19,986,722...20,003,170
JBrowse link
G CCL18 C-C motif chemokine ligand 18 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr17:20,723,413...20,730,633
Ensembl chr17:21,019,868...21,027,070
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 chr17:19,433,036...19,466,975
Ensembl chr17:19,734,588...19,763,689
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 chr17:20,480,754...20,489,736
Ensembl chr17:20,776,083...20,784,789
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 chr17:19,562,013...19,585,798
Ensembl chr17:19,862,235...19,862,831
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 chr17:20,491,687...20,537,516
Ensembl chr17:20,786,936...20,831,055
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 chr17:19,333,485...19,392,147
Ensembl chr17:19,633,424...19,691,863
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 chr17:20,134,308...20,140,652
Ensembl chr17:20,430,618...20,437,751
JBrowse link
G LOC100992309 C-C motif chemokine 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr17:20,704,738...20,706,641
Ensembl chr17:21,000,709...21,002,610
JBrowse link
G LOC117974322 C-C motif chemokine 4 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr17:20,689,341...20,691,921 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 chr17:20,472,593...20,479,991
Ensembl chr17:20,767,988...20,775,308
JBrowse link
G MRPL45 mitochondrial ribosomal protein L45 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr17:18,949,525...18,974,651 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 chr17:20,546,652...20,586,131
Ensembl chr17:20,840,913...20,880,242
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 chr17:20,542,694...20,547,347
Ensembl chr17:20,837,769...20,839,283
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 chr17:19,467,539...19,560,618
Ensembl chr17:19,768,058...19,860,323
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 chr17:19,595,055...19,670,090
Ensembl chr17:19,897,659...19,967,926
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 chr17:20,583,614...20,595,332
Ensembl chr17:20,878,333...20,889,078
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 chr18:1,951,279...1,999,313
Ensembl chr18:17,062,250...17,109,400
JBrowse link
G AKAIN1 A-kinase anchor inhibitor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:9,083,750...9,138,400 JBrowse link
G ANKRD12 ankyrin repeat domain 12 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:5,002,212...5,153,112
Ensembl chr18:7,287,287...7,385,041
JBrowse link
G ANKRD62 ankyrin repeat domain 62 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:2,191,716...2,231,178
Ensembl chr18:4,456,082...4,493,924
JBrowse link
G APCDD1 APC down-regulated 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:3,799,425...3,834,557
Ensembl chr18:6,083,649...6,117,276
JBrowse link
G ARHGAP28 Rho GTPase activating protein 28 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:7,366,986...7,548,782
Ensembl chr18:9,690,107...9,775,270
JBrowse link
G CEP192 centrosomal protein 192 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:1,205,747...1,339,267
Ensembl chr18:16,327,808...16,452,575
JBrowse link
G CEP76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:1,620,954...1,650,498
Ensembl chr18:16,735,827...16,765,269
JBrowse link
G CHMP1B charged multivesicular body protein 1B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:2,452,393...2,455,509 JBrowse link
G CIDEA cell death inducing DFFA like effector a ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:2,051,880...2,075,909 JBrowse link
G DLGAP1 DLG associated protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:9,816,171...10,781,490
Ensembl chr18:12,704,306...13,091,118
JBrowse link
G EMILIN2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:11,368,328...11,435,808
Ensembl chr18:13,678,772...13,743,346
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 chr18:8,656,684...8,894,170
Ensembl chr18:10,993,680...11,210,416
JBrowse link
G FAM210A family with sequence similarity 210 member A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:598,267...657,131
Ensembl chr18:2,767,335...2,827,533
JBrowse link
G GNAL G protein subunit alpha L ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:2,420,578...2,615,947 JBrowse link
G IMPA2 inositol monophosphatase 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:2,293,788...2,344,422
Ensembl chr18:4,557,280...4,608,991
JBrowse link
G L3MBTL4 L3MBTL histone methyl-lysine binding protein 4 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:7,861,424...8,338,011 JBrowse link
G LAMA1 laminin subunit alpha 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:7,159,568...7,335,363
Ensembl chr18:9,482,895...9,656,800
JBrowse link
G LDLRAD4 low density lipoprotein receptor class A domain containing 4 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:669,862...1,110,558
Ensembl chr18:2,845,198...2,879,363
JBrowse link
G LOC100977910 myosin regulatory light chain 12B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:10,999,849...11,016,059
Ensembl chr18:13,308,356...13,324,754
JBrowse link
G LPIN2 lipin 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:11,270,941...11,367,312
Ensembl chr18:13,608,883...13,675,165
JBrowse link
G LRRC30 leucine rich repeat containing 30 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:7,042,813...7,043,785
Ensembl chr18:9,367,147...9,368,052
JBrowse link
G MC2R melanocortin 2 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:409,141...442,578
Ensembl chr18:2,608,691...2,609,584
JBrowse link
G MC5R melanocortin 5 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:495,561...501,555
Ensembl chr18:2,668,394...2,669,371
JBrowse link
G MPPE1 metallophosphoesterase 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:2,397,423...2,423,209
Ensembl chr18:4,662,348...4,686,262
JBrowse link
G MTCL1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:5,454,320...5,580,020
Ensembl chr18:7,737,903...7,906,958
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:11,057,733...11,215,998
Ensembl chr18:13,368,052...13,523,834
JBrowse link
G NAPG NSF attachment protein gamma ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:3,737,245...3,764,064
Ensembl chr18:6,020,592...6,047,429
JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:5,154,158...5,186,088
Ensembl chr18:7,433,167...7,464,884
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:3,141,285...3,619,885
Ensembl chr18:5,407,467...5,882,928
JBrowse link
G PPP4R1 protein phosphatase 4 regulatory subunit 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:4,671,010...4,742,301
Ensembl chr18:6,974,934...7,022,996
JBrowse link
G PRELID3A PRELI domain containing 3A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:1,895,635...1,920,455
Ensembl chr18:17,006,556...17,021,984
JBrowse link
G PSMG2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:1,597,981...1,620,721
Ensembl chr18:16,713,534...16,735,531
JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:1,440,837...1,538,501
Ensembl chr18:16,562,052...16,659,570
JBrowse link
G PTPRM protein tyrosine phosphatase receptor type M ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:5,879,556...6,706,824
Ensembl chr18:8,206,677...9,030,286
JBrowse link
G RAB12 RAB12, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:5,646,023...5,675,920
Ensembl chr18:7,972,938...8,027,500
JBrowse link
G RAB31 RAB31, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:4,424,677...4,578,263
Ensembl chr18:6,710,174...6,859,896
JBrowse link
G RALBP1 ralA binding protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:4,747,555...4,810,710
Ensembl chr18:7,028,188...7,090,934